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A 30-year-old male patient presented with recurrent episodes of sudden vomiting since 2017. He reported episodes of vomiting once every 2 to 3 months, averaging 4 to 5 episodes annually. Initially, vomiting episodes lasted 5 days but were typically reduced to 3 days with prompt medical intervention at a local clinic. Each episode involved persistent vomiting for 3 to 5 days, occurring more than twenty times daily severely impairing his ability to eat and work. Chronic digestive discomfort and occasional heartburn before sleep were also reported, although there was no abdominal pain, headache, or other pain types. Episodes primarily occurred at night, and no specific triggers were identified. Prodromal symptoms included severe nausea rated 6 on a numeric scale, significantly affecting daily activities. The patient was a nonsmoker and abstained from alcohol, with no significant family history.
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Gastroenterology
|
The patient reported a poor appetite and frequent indigestion. Bowel movements were normal, but occasional heartburn before bedtime disrupted his sleep. The unpredictability and fear of episodes caused anxiety and irritability, complicating his eating habits. A symptom-related questionnaire indicated a visual analog scale (VAS, 0–100 mm) score of 67 for nausea and vomiting, suggesting moderate-to-severe discomfort. The patient experienced persistent postprandial fullness and early satiety for over 3 days weekly in the past 6 months.
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Gastroenterology
|
In the year preceding presentation, the patient experienced vomiting episodes 4 times, with 3 episodes occurring at intervals of at least 1 week in the last 6 months. These episodes followed a typical pattern of sudden onset, lasting <1 week. Although vomiting ceased between episodes, mild symptoms like indigestion persisted. CVNS was ruled out due to the presence of distinct temporal phases, which are not typical of CVNS. Additionally, CHS was excluded because the patient’s symptoms were unrelated to cannabis use. Despite extensive testing, no alternative diagnosis was established. Based on the Rome criteria, the patient was diagnosed with moderate-to-severe CVS (Table 1 ).
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Gastroenterology
|
Subjective comments on GI discomfort were recorded throughout the treatment. At the initial visit, the patient reported severe nausea and vomiting symptoms occurring 6 days prior, leading to a notable decrease in quality of life. He also expressed fear of worsening symptoms and difficulty eating normally. However, after 1 month of treatment, the patient no longer experienced symptoms such as nausea, vomiting, or heartburn, except for occasional postprandial fullness. After 2 months of treatment, there was substantial improvement in overall symptoms, with the patient reporting a greatly improved quality of life and only mild feelings of fullness and discomfort when eating excessively. No additional symptomatic medications or injection therapies were used posttreatment, and no adverse events were observed during the treatment period.
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Gastroenterology
|
Before acupuncture treatment, the patient underwent conventional drug and injection therapies at various hospitals. However, periodic vomiting, heartburn, and indigestion persisted. The patient exhibited a typical 4-phase CVS pattern. During the symptom-free phase, the patient was able to lead a normal daily life with mild indigestion. The prodromal phase was characterized by varying degrees of nausea and malaise, often severe enough to impair daily activities. The emetic phase involved persistent severe nausea and repetitive vomiting, sometimes occurring up to 20 to 30 times a day, lasting 3 to 5 days, and leading to severe dehydration. The recovery phase presented a decrease in vomiting episodes, improvement in symptoms, and a return to oral intake and vitality. These phases necessitate appropriate treatment, and the uncertainty of vomiting episodes and fear of relapse significantly impair the patient’s quality of life, causing notable anxiety and irritability. Specifically, during the emetic phase, when severe vomiting makes eating and daily activities impossible, close monitoring, ongoing treatment, daily management, and long-term follow-up are essential.
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Gastroenterology
|
The visual analogue scale (VAS) score before treatment was 6. During the first umbilical needling, the patient was instructed to move her neck appropriately, and the symptoms of neck pain have significantly improved compared to before. The cervical spine that cannot be moved can now be moved appropriately. But there was still pain at the Dazhui acupoint When the neck tilts back. The VAS score was 2. After the second umbilical needling treatment, the patient’s neck pain and restricted mobility have been largely relieved. The VAS score was 1. After 1 week of umbilical needling treatment, the neck pain disappeared. It was evaluated according to the changes in clinical symptoms and signs and the improvement rate of the VAS score. Improvement rate of VAS score = [(VAS score before treatment − VAS score after treatment) ÷ VAS score before treatment] × 100. The patient achieved clinical curative effect; the local pain symptoms of the patient’s neck spine completely disappeared, the neck spine function returned to normal, the VAS score was 0, and it had no effect on the fetus. After 1 month of follow-up, the patient’s neck spine activity was regular without obvious pain and discomfort, and she was satisfied with this treatment. The patient did not report any adverse events during the treatment and follow-up.
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Acupuncture
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A 63-year-old male with a medical history significant for type 2 diabetes, hypertension, chronic kidney disease stage 5, and a past brucellosis infection 40 years ago, as well as a neurogenic bladder status post-botox injection on clean intermittent catheterization, presented to King Abdulaziz Medical City in Riyadh, Saudi Arabia, with a chief complaint of severe, intermittent left testicular pain persisting for 10 days, unresponsive to acetaminophen. The patient reported no associated fever, dysuria, hematuria, or other complaints. Two similar episodes occurred earlier in the year, with the first occurring four months prior to this presentation, revealing a right epididymal non-drainable abscess that responded well to a two-week course of ciprofloxacin. The second episode, which occurred two months previously, involved left epididymo-orchitis with a small non-drainable epididymal tail collection and a urine culture that grew >100,000 cfu/ml of Streptococcus agalactiae (Group B), which responded favorably to a two-week course of ciprofloxacin. The patient denied any recent risky behaviors, extra-marital or new sexual contacts, alcohol or illicit drug intake, or exposure to water bodies.
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Urology
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On examination, the patient was afebrile with normal vital signs, and the abdominal examination was unremarkable. A significant swelling in the left testicular area with mild tenderness was noted. Ultrasonographic imaging of the swelling demonstrated interval improvement of the left epididymal tail collection from 2.3 cm to 0.7 cm with diffuse heterogeneous enlargement of the epididymal tail, indicating persistent left epididymo-orchitis .
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Urology
|
Urine culture identified the growth of 90,000 cfu/ml Aeromonas hydrophilia . Susceptibility testing showed that the isolate was susceptible to meropenem, ciprofloxacin, co-trimoxazole, gentamicin, amikacin, cefepime, and cefuroxime, but resistant to piperacillin and tazobactam. The patient was treated with two weeks of meropenem followed by four weeks of ciprofloxacin, resulting in a significant improvement in symptoms upon follow-up.
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Microbiology
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On physical examination, the swelling was localized to the third, fourth and fifth digits of the right hand and the fourth and fifth digits of the left hand. It was nontender, soft in consistency, non-fluctuant and non-pulsatile. There was no local erythema or any scar mark, as shown in Fig. 1 . The affected digit's range of motion was restricted. No concomitant sensory loss was seen. The blood investigations were within normal limits. Fig. 1 A clicked picture of the right and left hand showing asymmetrically enlarged multiple digits of the bilateral hand. Fig 1
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Rheumatology
|
Harlyjoy et al. presented a case report of a rare life-threatening complication of TBI called traumatic tension pneumocephalus. The study, based in Indonesia, highlighted the barriers to timely management, including patient refusal of surgery and financial constraints. Despite these challenges, the patient eventually underwent emergency neurosurgery and achieved a full recovery. This case underscores the importance of overcoming healthcare access barriers in low- and middle-income countries to improve neurotrauma outcomes.
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Neurosurgery
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A 51-year-old man was transferred to our hospital with severe pneumonitis and AKI. The patient had a fever (maximum temperature of 38°C), cough, and fatigue for the past seven days. His symptoms persisted and he visited the emergency room of a local hospital two days prior to his presentation where his serum creatine was 6.24 mg/dL (normal range: 0.7-1.3 mg/dL). He remained oliguric even after a 500 ml intravenous extracellular fluid drip. During the treatment at the emergency room, he did not show any signs of vital shock or low blood pressure. He was transferred to our hospital due to severe pneumonia and AKI with oliguria. He was only taking medication for hyperlipidemia. He never smoked. There was no family history for autoimmune or chronic kidney diseases.
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Nephrology
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After the transfer to our hospital, he had no fever, his heart rate was 65 beats per minute, and his blood pressure was 116/80 mmHg. There was no muscle pain. His oxygen saturation was 93% in room air. Blood gas analysis showed pH 7.437, partial pressure of oxygen (PO2) 70 mmHg, and partial pressure of carbon dioxide (PCO2) 30 mmHg. Moist crackles were detected on both dorsal back sides. Chest X-ray showed bilateral lower lung consolidation , and CT revealed diffuse bilateral consolidation opacities in the lower lobes .
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Pulmonology
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Due to an elevated white blood cell count with a predominance of neutrophils and high levels of procalcitonin, combined antibiotic treatment (levofloxacin (LVFX) and ceftriaxone (CTRX)) was started. Over the next few days, his fever, respiratory symptoms, and radiological findings improved. Laboratory markers of inflammation and renal function gradually improved.
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Infectiology
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In this case, Legionella infection showed pneumonia and AKI. Both pneumonia and AKI improved with antibiotic administration. A kidney biopsy revealed no glomerulonephritis but there was a mild-to-moderate degree of mixed inflammatory cell infiltration, composed of polymorphonuclear leukocytes, lymphocytes in zonal areas of the tubulointerstitium with patchy tubular epithelial cell flattening and atrophy.
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Nephrology
|
On September 8, 2022, a 52-year-old woman presented at our hospital complaining of an abdominal mass and intermittent abdominal pain since July 2022. Initially, the palpable mass, which was as large as an egg, was in the left lower abdomen. Without any treatment, the mass showed continuous growth, ultimately expanding into the entire lower abdomen. The patient denied any additional symptoms, such as fever, vomiting, or hematochezia. Throughout the course of her illness, the patient had lost approximately 5 kg in weight. A review of the laboratory examination of this patient revealed relevant abnormal indicators, as shown in Table 1 .
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Gastroenterology
|
For further aid in diagnosis, the patient subsequently underwent comprehensive imaging examinations. Ultrasound (US) suggested a hypoechoic solid mass in the pelvic cavity measuring 14 × 10 × 11 cm . A plain CT scan of the abdomen revealed a heterogeneous hypodense mass with ascites . In the abdominal pelvic MRI, the mass was considered to originate from the right ovary, displaying mixed high signal on T2-weighted imaging (T2WI) and a hypointense signal on T1-weighted imaging (T1WI). The mass had a heterogeneous high signal on diffusion-weighted imaging (DWI) . Enhanced MRI showed the tumor artery originating from the internal iliac artery, which exhibited moderate delayed enhancement . Moreover, coronal MRI showed the tumor encasing the right ovarian vein .
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Radiology
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Subsequently, the patient underwent a bilateral salpingo-oophorectomy on September 12, 2022. The surgical procedure disclosed a 14-cm mass originating from the right ovary, adherent to the right bladder and pelvic wall. The enlarged left ovary was cystic. The intraoperative pathology suggested “malignant tumor, high grade,” leading to the expansion of the surgical scope. These resected tissues were then pathologically examined. The immunohistochemistry (IHC) results of the tumor tissues in the right ovary revealed positive expression of CD19, CD20, CD45, CD79a, Bcl-6, Bcl-2, and MUM-1. The positivity rate of Ki-67 was over 90%. Notably, no tumor cells were detected in the fallopian tube and the left ovary. The timeline of this patient is shown in Supplementary Figure S1 .
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Gynecologic oncology
|
A 22-year-old male presented with a progressive right-sided weakness for two years. His past medical and family medical history were unremarkable. Upon neurologic examination, he was awake, oriented, and able to follow commands, but had slowed mentation. He experienced diplopia and had right lateral rectus palsy and right hemiplegia.
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Neurology
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A magnetic resonance image (MRI) obtained revealed a 4.8 cm x 5.4 cm tumor at the left thalamus, with defined margins and heterogeneous contrast enhancement . Under the impression of a probable high-grade glioma, a stereotactic biopsy was performed through the left Kocher’s point, taking samples from four quadrants of the target. This was immediately followed by a contralateral ventriculoperitoneal shunt insertion.
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Neurosurgery
|
Two months later, he developed a progressively enlarging mass under the left frontal post-operative site, which developed a nonhealing, bleeding ulceration. On admission, he had a fungating mass eroding the skin and producing serous discharge at the previous biopsy incision site. He was awake and able to name himself, followed by prodding, with slowed responses, and with a right lateral rectus palsy and right hemiparesis.
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Neurosurgery
|
A repeat cranial MRI showed growth of the tumor to 4.8 cm x 6.4 cm, with tumor extension following the biopsy track at the left frontal parenchyma, to the burr hole, and to the scalp . There was no evidence of metastases on spinal MRI. The impression was implantation metastasis of the GCT extending to the scalp. To repair the skin and obtain tissue confirmation, he underwent sampling of the tumor at the burr hole and excision of the scalp mass, with closure using a rotational flap and split-thickness skin graft. The postoperative course was unremarkable, and he was discharged with a schedule for MRI and radiation therapy. Upon histologic analysis, the tissue taken from the burr site was germinoma, but the scalp tissue was inflammatory and granulation tissue, with no evidence of malignancy. He was discharged with plans for adjuvant therapy, but despite constant advice and communication, he was again lost to follow-up.
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Neurosurgery
|
We present the case of a full-term female newborn weighing 2750 grams, born to a 24-year-old primigravida mother through spontaneous vaginal delivery. The pregnancy was poorly monitored, with the first obstetric ultrasound conducted at 24 weeks of gestation showing microcephaly, a single cerebral ventricular cavity, and laminated brain parenchyma with thalamic fusion, suggestive of alobar HPE . The parents were non-consanguineous, with no family history of malformation, tobacco use, drug exposure, or infections during pregnancy.
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Neonatology
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At clinical examination, the Apgar score was 7/10 at 1’ and 9/10 at 5’. Craniofacial anomalies observed included microcephaly, hypertelorism, hypoplasia of the nasal pyramid, premaxillary agenesis, a median cleft lip-palate, and low-set ears. The newborn also showed generalized hypotonia, difficulty sucking, and absent primitive reflexes. Cardiovascular and respiratory systems were clinically normal .
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Pediatrics
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A 66-year-old female patient was identified six years ago with adhesions at the junction of the left and right coronary valves of the trileaflet aortic valve, resulting in a bicuspid deformity and severe stenosis of the aortic valve. Simultaneously, there was concurrent aneurysmal dilatation of the ascending aorta. Upon admission, the patient did not manifest any discernible symptoms. During physical examination, her heart rate was recorded at 84 beats per/minute, and her blood pressure was measured at 143/101 mmHg. Transthoracic echocardiography revealed an aortic valve opening area of approximately 0.9 cm², a peak systolic flow rate of 4.5 m/s, a differential pressure gradient of 82 mmHg, a left ventricular ejection fraction of 63%, a proximal aortic diameter of approximately 4.3 cm, and normal morphology and activity of the mitral and tricuspid valves. Aortic computed tomography angiography (CTA) results show thickening of the aortic valve with minimal calcification and dilation of the ascending aorta, with a diameter of 4.4 cm. Additionally, mild stenosis was observed in the anterior descending branch of the right coronary artery at the opening on coronary arteriography. Following a clear surgical indication, we considered performing mechanical aortic valve replacement alongside ascending aortic replacement or ascending aortoplasty for the patient. Ultimately, the patient chose ascending aortoplasty due to personal factors. The surgery was performed through a median sternotomy under moderate hypothermic cardiopulmonary bypass. After cardiac arrest, the aortic valve was excised through the aortic incision, and a mechanical valve prosthesis was placed, confirming that the valve leaflets opened and closed properly. A tapered resection of the dilated aortic wall was performed along the aortic incision, and the aortic incision was closed with a continuous suture using 5–0 Prolene thread. Postoperative examination revealed optimal functioning of the mechanical valve. Moreover, the ascending aorta exhibited satisfactory flow. The patient was discharged 16 days postsurgery. During the six-year follow-up period, the patient attended regular outpatient reviews at our center, where laboratory tests and transthoracic echocardiography results showed no significant abnormalities. Coagulation function was maintained within the acceptable range required after mechanical valve replacement.
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Cardiology
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Six years after the operation, the patient sought admission to the emergency department of our hospital and presented with intermittent chest tightness and pain, coupled with weakness and dizziness. A transthoracic echocardiogram revealed a rupture on the right posterior wall of the ascending aorta extending into the right atrium. The ascending aorta exhibited aneurysmal dilation, with a proximal diameter of approximately 5.1 cm, indicating slight expansion compared to six years ago. The mechanical aortic valve exhibited normal function, characterized by systolic blood flow without significant acceleration, a peak flow rate of 3.3 m/s, and a differential pressure gradient of 44 mmHg. The left ventricular ejection fraction was measured at 65%. Additionally, the patient presented with a combination of moderately severe tricuspid insufficiency, moderate pulmonary hypertension, and a moderate to large amount of systolic regurgitant signal at the tricuspid orifice, featuring a peak flow rate of 3.1 m/s and a pressure gradient of 39 mmHg. Upon admission to the hospital, the patient underwent emergency room CTA of the thoracic and abdominal aorta. Imaging revealed limited bulging and protruding shadows measuring approximately 38*18 mm at the right edge of the lower section of the ascending aorta. The tip of this bulging structure was suspected to be connected to the right atrium, which appears to be flattened due to compression , and a three-dimensional CTA likewise showed a significant rupture at the ascending aorta . Moreover, the patient exhibited an international normalized ratio of 2.54 s, a prothrombin time of 24.9 s, and an elevated N-terminal pro-B-type natriuretic peptide level of 4030.0 pg/ml. Ultimately, owing to acute right heart failure resulting from the influx of blood from the ascending aorta into the right atrium, the patient was subsequently transferred to our cardiovascular surgery department for further treatment.
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Cardiology
|
Following the confirmation of the absence of contraindications to surgery, we proceeded with ascending aortic replacement using a median sternotomy combined with a right inguinal incision. Subsequently, we initiated extracorporeal circulation by cannulation through the femoral artery, superior vena cava, and inferior vena cava. When circulatory arrest was achieved circulatory arrest through whole-body mild hypothermia, the surgical procedure commenced with removal of the pseudoaneurysm. Subsequently, the right atrial rupture was meticulously closed. The proximal portion of the ascending aorta was then trimmed, and the concluding phase involved the execution of ascending aortic replacement. Next, evaluation of tricuspid valve function was carried out through a right atrial incision, and the water injection test demonstrated the absence of discernible regurgitation. Following the closure of the right atrial incision, we disengaged from the extracorporeal circulation and meticulously closed the thoracic cavity using layer-by-layer sutures. Intraoperative transesophageal ultrasonography revealed unimpeded blood flow in the artificial vessel after ascending aortic replacement, patent coronary artery openings on both the right and left sides, and no discernible abnormalities subsequent to the repair of the right posterior wall breach of the ascending aorta. No discernible signal was detected during the diastolic phase of the aortic valve. Following the procedure, the patient was transferred to the cardiac care unit.
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Cardiac surgery
|
This patient is a 25-year-old male, resident of western India. He had presented with jaundice during the neonatal period and was treated with phototherapy. At three months of age, he presented as a failure to thrive child. On investigation, he was found to have low hemoglobin (Hb: range: 4–5 g/dL) along with increased indirect bilirubin and lactate dehydrogenase (LDH). He was put on blood transfusions every 3–4 weeks for the maintenance of Hb levels.
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Hematology
|
At 25 years of age, he presented with epistaxis. On evaluation, his Hb was 11 g/dL, total leukocyte count (TLC) 527,000 /mm 3 and a peripheral blood smear was suggestive of myeloproliferative neoplasm, likely CML – chronic phase. . He was positive for the breakpoint cluster region-Abelson oncogene (BCR-ABL) rearrangement with a major translocation (P210 (e13a2, e14a2) and initiated imatinib treatment. After three months, his Hb level had dropped to 8.5 g/dL. Mutational analysis revealed the alpha thalassemia mutation-heterozygous deletion (-α 3.7α/αα or αα/-α3.7α). No Beta thalassemia mutation was detected. Furthermore, next generation clinical exome sequencing detected ‘Heterozygous’ variants in the PKLR gene Table 1 .
|
Hematology
|
The parents of the patient are related first cousins. He has an elder sister who has a similar clinical profile (transfusion-dependent hemolytic anemia, indirect hyperbilirubinemia, and splenectomy at 18 years of age). Moreover, he had a sibling who died at 3.5 years of age who had a history of neonatal jaundice and kernicterus. Figure 1 (A graphical representation of family studies) Figure 1 Graphical representation of family studies. Figure 1 Figure 2 Peripheral blood smear showing leukocytosis with myelocyte bulge, blasts, basophils, promyelocytes, metamyelocytes, bands, eosinophils and monocytes suggestive of chronic myeloid leukemia likely the chronic phase. Figure 2
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Hematology
|
This case report aims to document the effectiveness and safety of using RTX as a treatment for a case of severe PV.
|
Dermatology
|
A 44-year-old female with no relevant risk factors or potential comorbidities presented with mucous and skin lesions that had been gradually evolving over 12 months, causing pain and a burning sensation. The patient had dispersed flaccid blisters and erosions on the skin, mainly on the trunk, upper limbs, and face, and several mucosal areas were affected, including the oral cavity, nasopharynx, and genital region . The patient had previously received outpatient treatment with oral prednisolone (60 mg/day), cyclosporine (400 mg/day), azathioprine (150 mg/day), and methotrexate (20 mg/day), without improvement. On admission, the patient had mild leukocytosis with neutrophilia, but no other relevant analytical changes were observed. A punch biopsy of a blister portion of the skin showed intraepidermal/suprabasal blistering and dyskeratotic cells with acantholysis, leading to a presumptive diagnosis of PV with mucocutaneous involvement with a Pemphigus Disease and Area Index (PDAI) total activity score of 66 , indicating severe disease.
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Dermatology
|
Due to the patient's deteriorating condition, RTX infusions were recommended and administered in accordance with the European Academy of Dermatology and Venereology (EADV) guidelines for the management of pemphigus vulgaris and foliaceus during a 30-day inpatient stay at the hospital-based dermatology service. The patient received two infusions of RTX 1g, two weeks apart, and oral prednisolone 60 mg/day, being closely monitored without complications. One week after the second administration of RTX, partial remission of the lesions was observed . Following two weeks of no new blister formation and an 80% improvement in the healing of established lesions, the corticosteroid dosage was gradually tapered. On an outpatient basis, remission was observed after four months of follow-up, presenting post-inflammatory hyperpigmentation dispersed on the skin as a result of resolving lesions. The patient has initiated maintenance treatment with RTX 500 mg at 12 months and will continue receiving treatment at 18 months and every six months, if clinically indicated, according to the EADV guidelines on the management of pemphigus vulgaris and foliaceus.
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Dermatology
|
A 47-year-old male nonsmoker with a past medical history of hypertension and ESRD secondary to type 1 diabetes mellitus (T1DM) who had undergone an SPK transplant. Following induction immunosuppression with solumedrol and thymoglobulin, the patient was maintained on a triple regimen of mycophenolate, tacrolimus, and sirolimus; he had no delayed function of either the kidney or the pancreas allograft. After five years, he was found to have increasing creatinine levels, raising concerns about transplant rejection. A kidney allograft biopsy at that time showed moderate interstitial fibrosis and tubular atrophy involving 40% of the cortex, attributed to polyomavirus (BK) nephropathy, focal segmental glomerulonephritis (FSGS) of the collapsing type, and chronic allograft nephropathy. He had plasmapheresis and was subsequently discharged on high-dose prednisone. Two years later, the patient was reinitiated on hemodialysis due to progressively worsening renal graft function. After over eight years post-transplant, the patient began to report episodes of gross hematuria. The patient subsequently underwent a cystoscopy, which showed normal-appearing bladder mucosa without stones, tumors, diverticula, or foreign bodies, as well as bilateral native and transplant retrograde pyelograms without any obvious abnormalities or filling defects. Urine cytology at the time, however, came back positive for high-grade urothelial carcinoma, for which the patient underwent pelvic MRI with and without intravenous (IV) contrast. A lobulated infiltrating 2.6 cm lesion concerning urothelial malignancy was found in the failed renal transplant. He subsequently underwent a nephroureterectomy with resection of the bladder cuff without complication. Pathology showed infiltrating high-grade papillary urothelial carcinoma with micropapillary and glandular features, associated with in-situ urothelial carcinoma, arising in the renal pelvis and invading the peripelvic soft tissues and renal parenchyma, along with lymphovascular invasion, confirming pT3 TCC of the renal allograft. All margins of the kidney and ureter were noted to be clear, with no lymph nodes identified. The patient remains on his initial immunosuppressive regimen as the pancreas allograft continues to function well without evidence of rejection, maintaining adequate glucose control, and insulin independence.
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Nephrology
|
A 49-year-old male nonsmoker with a past medical history of hypertension and ESRD who a underwent cadaveric renal transplant complicated by hydronephrosis from anastomotic stricture managed endoscopically. The patient was maintained on a regimen of Tacrolimus and Sirolimus with prophylactic Ganicyclovir. An ultrasound 13 years post-transplant revealed a complex cystic lesion in the upper pole of one of the native kidneys, on the ipsilateral side of the transplanted kidney. Subsequent abdominal MRI with and without contrast confirmed a 2.9 cm x 3.3 cm x 3.4 cm enhancing mass in the superior pole that was suspicious for renal cell carcinoma. He underwent open radical nephrectomy of the native kidney later that year. Pathology of the native kidney showed papillary renal cell carcinoma type 1 with resection margins free of involvement. His transplanted kidney began to progressively fail after this and 21 years post-transplant the patient began having problems with fluid overload and later nearly daily gross hematuria. MRI of the abdomen and pelvis with and without IV contrast revealed heterogeneously enhancing lesion and focal dilation of a calyx in the interpolar region of the transplanted kidney concerning urothelial carcinoma. At the time, urine cytology was negative for urothelial carcinoma. He subsequently underwent a transplant nephroureterectomy with resection of the bladder cuff and was subsequently initiated on dialysis. Pathology of the renal allograft demonstrated invasive high-grade papillary urothelial carcinoma arising in the renal pelvis invading the renal parenchyma with negative resection margins (pT3). Due to the high-grade invasive nature of his cancer, the patient was referred to the cancer center for evaluation of the potential need for systemic chemotherapy or immunotherapy. He was determined not to be a candidate for adjuvant treatment due to his comorbidities. Since then he has undergone cancer surveillance with CT chest, abdomen, and pelvis. The patient had no BKV.
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Nephrology and Urologic Oncology
|
A 44-year-old male ex-smoker with a past medical history of T1DM, hypertension, and ESRD who underwent an SPK transplant. The pancreas allograft failed early from thrombosis and had an allograft pancreatectomy the following month. The renal allograft retained good function. He was on steroid-free maintenance immunosuppressants with tacrolimus and mycophenolic acid. About three years post-transplant, he was diagnosed with BK viremia via PCR, and he was started on leflunomide. During follow-up, he was found to have persistent microscopic hematuria. He underwent a cystoscopy, which was unremarkable, transplant ureteroscopy was attempted but was unsuccessful. The hematuria worsened to gross episodes, which prompted repeat cystoscopy; urine cytology from the transplanted renal pelvis washings revealed high-grade urothelial carcinoma. Ultrasound demonstrated moderate hydronephrosis of the transplanted kidney, for which a nephrostomy tube was placed. The patient subsequently underwent transplant nephroureterectomy with excision of bladder cuff and excision of nephrostomy tube tract without complication. Pathology confirmed high-grade papillary urothelial carcinoma limited to the allograft renal pelvis with vascular margins free of the tumor (pT3). He was referred to the cancer center to be evaluated for potential systemic chemotherapy or immunotherapy. He was subsequently started on an adjuvant Gemcitabine and Carboplatin chemotherapy regimen. After three cycles of adjuvant chemotherapy, it was discontinued due to intolerance. Interval abdominal/pelvic CT scan revealed no recurrence or metastatic disease. At this time, the patient moved out of state and was lost to follow-up.
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Nephrology and Urologic Oncology
|
A 65-year-old male ex-smoker with a past medical history of hypertension and ESRD who had undergone DDKT. His maintenance immunosuppressants included tacrolimus and mycophenolic acid. He was diagnosed with BKV after seven years post-transplant and mycophenolic acid was switched to leflunomide. He began to have intermittent episodes of painless, gross hematuria after 15 years post-transplant. The patient underwent a cystoscopy and urine cytology which was negative. CT of the abdomen and pelvis with and without IV contrast done the following year revealed an enhancing lesion in the lower pelvicalyceal system of the transplanted kidney. Subsequent pelvic MRI with and without IV contrast confirmed an enhancing filling defect located within the lower pole collecting system of the transplanted kidney, concerning TCC. The patient was managed endoscopically with renal biopsy and fulguration without complication. Evaluation of the intraoperative specimens confirmed atypical urothelial cell pathology consistent with high-grade papillary urothelial carcinoma. Repeat ureteroscopies were performed for continued resection and surveillance of the tumor. However, the stage and depth of invasion were never able to be confirmed, the patient was unwilling to undergo transplant nephrectomy. His immunosuppressive medication was switched to Sirolimus at this time. He continued to have surveillance cystoscopy with ureteroscopy and biopsies, his pathology was intermittently suspicious for recurrence with rare clusters and scattered single atypical urothelial cells with high nuclear to cytoplasmic ratio. Repeat ureteroscopies never fully confirmed actual recurrence. At his last ureteroscopy, pathology of the aspirate of the allograft renal pelvis showed no evidence of recurrence. He was admitted to an outside hospital at the end of his 18th-year post-transplant due to dizziness and a new onset of atrial fibrillation. During the course of his hospitalization, he aspirated and went into ventricular fibrillation. Resuscitation efforts were unsuccessful.
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Nephrology and Urology
|
In October 2023, a 59-year-old female patient presented to the Breast Disease Center at Mianyang Central Hospital with a one-year history of a lump in her right breast. The key milestones in patient diagnosis and treatment are summarized in Supplementary Table S1 , and SSc manifestations at different stages are detailed in Supplementary Table S2 (the details of Supplementary Tables S1 and S2 are in the Supplementary Material ). On examination, the patient’s vital signs were stable. Physical examination revealed an irregular mass in the right breast, measuring 12.5 cm × 8.0 cm, with indistinct borders. The skin over the areola displayed an orange-peel texture. The remaining skin color and elasticity, as well as range of motion in the limbs, were normal. The patient had no significant medical or family history, nor was she taking any medications.
|
Oncology
|
Core needle biopsy confirmed the diagnosis of invasive ductal carcinoma of the right breast with axillary lymph node involvement. Immunohistochemistry results further corroborated this diagnosis. The final diagnosis was right-sided invasive ductal carcinoma with ductal carcinoma in situ (cT4N2M0, Stage IIIb), classified as a luminal B HER-2 positive subtype. The patient underwent neoadjuvant therapy with six cycles of TcbHP comprising docetaxel, carboplatin, trastuzumab, and pertuzumab.
|
Oncology
|
After the second chemotherapy cycle, the patient experienced itching, skin hardening, and hyperpigmentation in the upper outer quadrant of the right breast at the 11 o’clock position, covering 3.0 × 5.0 cm. Initially, this was hypothesized to be an adverse reaction to chemotherapy; therefore, no special treatment was provided and the patient continued with chemotherapy. However, as treatment progressed, the itching worsened, and the sclerosis and hyperpigmentation gradually spread from the breast to the neck and face. By the end of the fifth chemotherapy cycle, the patient exhibited skin hardening, itching, and hyperpigmentation of the face and both upper limbs. Suspecting chemotherapy-induced dermatitis, loratadine and mometasone furoate cream were prescribed for symptomatic relief, and the patient proceeded with the sixth chemotherapy cycle.
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Oncology
|
After completing chemotherapy, the patient developed pronounced skin sclerosis, primarily affecting the limbs and face. The skin was taut, swollen, and displayed non-pitting edema. Her fingers appeared puffy, with loss of skin folds and restricted range of motion. Her facial expression was stiff and mask-like. Hyperpigmentation intensified on the face, waist, and abdomen, whereas the skin on the chest and neck developed a distinctive “pepper-and-salt” appearance . Throughout the neoadjuvant therapy, dermatosclerosis and hyperpigmentation progressed from the breast to the head, neck, lower back, abdomen, and extremities. Medication such as loratadine and mometasone furoate cream failed to halt the progression of the condition. Given the worsening of symptoms, the possibility of comorbid skin or immune-related diseases was considered. Upon admission, routine autoantibody testing was performed to assess for a comorbid immune disorder, which showed as follow: C-reactive protein (CRP) levels of 0.25 ng/dL, anti-Streptolysin O (ASO) concentrations of 0.25 IU/mL, and rheumatoid factor (RF) levels of <20 IU/mL. The patient tested negative for anti-cyclic citrullinated peptide antibodies (anti-CCP) were negative. Considering the possibility of an underlying immune disorder, an indirect immunofluorescence assay (IIFA) revealed the presence of antinuclear antibodies (ANA) with both a speckled pattern (AC-4/5) at a titer of 1:3200 and a dense fine speckled pattern (AC-2) at a titer of 1:320. Further analysis identified anti-Scl-70 antibody positivity. The patient was subsequently diagnosed with SSc and the modified Rodnan skin score (mRSS) was 19.
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Rheumatology
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Glucocorticoids may be considered for patients with significant skin swelling to control inflammation and alleviate edema. However, the use of rituximab (RTX), tocilizumab (TCZ), and glucocorticoids during the perioperative period may increase the risks of poor incision healing, flap necrosis, and infection ( 6 – 9 ). Given these concerns, hydroxychloroquine, which has immunomodulatory properties and can inhibit abnormal immune responses without compromising normal immune function, was chosen as an alternative. Additionally, due to the patient’s limited financial resources to support the cost of TCZ and RTX treatments, more affordable treatment options were selected. Therefore, the patient was treated symptomatically with hydroxychloroquine (0.2 g bid), candesartan (8 mg qd), and beclomethasone (40 µg qd). After one week of treatment, the patient showed reduced skin tightness and improved mobility of their extremities. Following a multidisciplinary treatment discussion, we decided to proceed with modified radical mastectomy. Intraoperatively, significant skin fibrosis complicated the procedure, making breast flap dissection difficult. The area of the skin first affected by sclerosis, near the breast cancer lesion, was excised, and a flap graft was performed.
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Oncology
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One month later, the patient continued targeted therapy with trastuzumab and pertuzumab. After completing two cycles, sclerosis of the skin on the patient’s face, limbs, waist, and abdomen worsened, accompanied by generalized hyperpigmentation and pruritus. The hard swelling became more pronounced, rendering the skin impossible to pinch or twist. Shallow ulcers appeared on the dorsum of the patient’s foot, and their knuckles became swollen, painful, and stiff, limiting flexion and extension. Raynaud’s phenomenon was also prominent. Extensive fibrosis in the extremities led to unsteady walking and bilateral knee flexion was limited to > 90°, and an mRSS of 44 . However, the patient did not experience difficulty with breathing or swallowing, nor were there any signs of gastrointestinal involvement such as gastroesophageal reflux, indigestion, or diarrhea.
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Rheumatology
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Chest computed tomography (CT) revealed interstitial fibrotic changes in both lungs, and cardiac ultrasonography suggested mild pulmonary hypertension. Liver and kidney functions remained normal. Given the progression of SSc, it was unclear whether this was related to antitumor drug treatment, and targeted therapy was discontinued. Given the patient’s significant swelling and high inflammatory response, yet mild internal organ involvement, we opted to use glucocorticoids for inflammation control. The main clinical manifestation in this patient was severe, diffuse skin fibrosis. According to the 2023 EULAR guidelines, mycophenolate mofetil is recommended as a first-line treatment for skin fibrosis in SSc ( 10 ). Both thalidomide and colchicine exhibit antifibrotic properties ( 11 , 12 ). Due to the progression of SSc, we discontinued antitumor therapy. Given that both thalidomide and colchicine exhibit antitumor effects ( 13 – 16 ), we combined them with low-dose mycophenolate mofetil to enhance safety in the oncological setting while also control the progression of SSc. At the same time, our treatment also adhered to the Guidelines for the Diagnosis and Treatment of Systemic Sclerosis issued by the Rheumatology Branch of the Chinese Medical Association ( 17 ). The patient’s immunosuppressive regimen was adjusted to include prednisone acetate (100mg qd for short term use, then adjusted to 15mg qd), colchicine (0.5 mg qd), thalidomide (50 mg qn), hydroxychloroquine (0.2g bid), and mycophenolate mofetil (0.5g bid) to aggressively manage SSc and prevent further progression. The echocardiographically suggested pulmonary hypertension did not worsen or change from the time of admission, and influenced by the patient’s financial constraints, so we did not further examine the right heart catheterization or perform drug intervention. Antitumor therapy was reconsidered once the patient’s condition had stabilized.
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Rheumatology
|
After three months of follow-up, the patient showed improvement in SSc symptoms and limb mobility after discontinuing anticancer therapy, and the patient continues to experience skin sclerosis and pigmentation on the neck, face, limbs, waist, and abdomen. The skin had become more flexible, with significant reductions in tightness and itching. Partial healing of the foot ulcer was observed. Knuckle swelling subsided, and the range of motion improved. Pain, swelling, and stiffness were markedly reduced. No evidence of breast cancer recurrence or metastasis was detected at this time.
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Rheumatology
|
This case highlights a dilemma: continuing antitumor therapy risks worsening SSc and causing life-threatening organ damage, while suspending therapy risks breast cancer progression or recurrence. The relationship between targeted drugs and SSc remains unclear. Given prior neoadjuvant therapy and surgery, we chose to halt further antitumor therapy and prioritize aggressive SSc treatment. SSc remission and breast cancer stabilization suggest a novel approach to managing such conflicting treatment strategies. We opted to discontinue intensive antitumor therapy after initial effective treatment, while actively managing the patient’s immune disorders to maintain a relative balance between the two diseases and prevent further exacerbation.
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Oncology
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A 28-year-old woman was admitted to the neurology department with dizziness and chest tightness that had persisted for half a month. A cranial computed tomography (CT) scan revealed no significant abnormalities. The electrocardiogram (ECG) showed ST-segment downward shift in leads II, III, and AV F , and QS in leads V1–V4 . She was advised to get sufficient rest and was scheduled for a follow-up visit. Over the next 20 days her chest tightness worsened. She needed to rest after walking only 200–300 m on flat ground and could not lie down comfortably. She sought medical attention from the cardiology department and underwent further investigations. Blood tests showed an elevated white blood cell count (14.92 × 10 9 /L; reference range: 3.5–9.5 × 10 9 /L) with increased neutrophil (6.78 × 10 9 /L; reference range: 1.8–6.3 × 10 9 /L) and eosinophil counts (4.5 × 10 9 /L; reference range: 0.02–0.52 × 10 9 /L). B-type natriuretic peptide level was elevated (840 pg/ml; reference range: 0–100 pg/ml), and lactate dehydrogenase level was high (591 U/L; reference range: 135–214 U/L). ECG again showed sinus tachycardia and ST-T changes.
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Cardiology
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Brain magnetic resonance imaging (MRI) revealed multiple acute or subacute cerebral infarctions in both cerebellar hemispheres. Cardiac ultrasound identified an enlarged left heart with an abnormal left ventricular structure (unclear whether congenital, hypertrophic cardiomyopathy, or incomplete myocardial densification). There was also mild mitral regurgitation, moderate tricuspid regurgitation, and pulmonary hypertension. She was diagnosed with acute cerebral infarction, respiratory infection, and heart failure. She received treatment with antibiotics, diuretics, and nutritional cardiac drugs (sodium phosphocreatine), following which her chest tightness improved. However, to further investigate the cause of her condition, she sought medical attention at our hospital.
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Cardiology
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The etiology of her heart failure remains under investigation. Potential causes included coronary artery disease, valvular heart disease, hypertension, primary or secondary cardiomyopathy, congenital heart disease, pericardial disease, and others ( 5 ). The above research indicated that the patient was less likely to have atherosclerotic disease and has no history of hypertension. Cardiac ultrasound showed abnormal left ventricular structure. It is unclear whether there is valvular heart disease, cardiomyopathy, pericardial disease or congenital heart disease. Therefore, the patient needed to undergo another echocardiogram and CMR, as necessary. The next step focused on investigating the causes of both the suspected cardioembolic event and heart failure. Echocardiogram revealed the following findings: left atrial anterior-posterior diameter 41 mm, left ventricular end-diastolic diameter 57 mm, right atrial long diameter 53 mm, right atrial transverse diameter 47 mm, right ventricular anterior-posterior diameter 23 mm, left ventricular ejection fraction 34%, pulmonary artery systolic pressure 44 mmHg, left ventricular mid- and lower-segment thrombus , decreased left and right ventricular wall movement, decreased left ventricular systolic and diastolic function, decreased right ventricular systolic function, and a small amount of pericardial effusion. It did not detect any congenital structural abnormalities, valvular heart disease, cardiomyopathy, or pericardial disease.
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Cardiology
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After identifying the cause, we developed a treatment plan. Currently, there are no clear evidence-based guidelines or consensus statements regarding the treatment of Loeffler's endocarditis. Existing case reports suggest that steroids are effective in some patients, while secondary immunosuppressants are effective in others. Steroid use was higher in patients with HES-induced steroid drugs ( 9 ). For patients with life-threatening eosinophilic complications, high-dose corticosteroids (at least 1 mg/kg of prednisone daily) are typically used for a short course ( 1 ). Therefore, we treated the patient with 80 mg of methylprednisolone for four days, followed by anticoagulation with 2.5 mg of warfarin. The patient's chest tightness and suffocation symptoms significantly reduced, and the amount of methylprednisolone gradually decreased. After one week of treatment, follow-up cardiac ultrasound was performed, showing an increased left ventricular ejection fraction of 50%. Following discharge, her treatment continued with oral warfarin and prednisone. Weekly INR monitoring ensured a range of 2.0–3.0. The prednisone dose was 50 mg with a reduction of 10 mg/week. After 20 days of treatment, follow-up cardiac ultrasound showed a normal left ventricular ejection fraction (54%). However, the left side of the heart remained enlarged. Additionally, a left ventricular thrombus was still present. Subsequently, multiple cardiac ultrasound examinations showed a decrease in the volume of the cardiac mass, although it did not completely disappear . As expected, her eosinophil count gradually decreased after treatment, reaching 0 . However, the persistence of the cardiac mass led us to question its nature and we speculated that granulation tissue or other tissue types might be mixed with the thrombus. Therefore, the prednisone dosage was gradually reduced until discontinued, and imatinib was added. After one year of treatment with imatinib, the patient's cardiac mass completely disappeared .
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Cardiology
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A 66-year-old female was admitted to the Hematology Department in November 2021 because of dizziness and fatigue. Laboratory examinations revealed the hemoglobin (Hgb) level of 36 g/L, white blood cell count of 74.23 × 10 9 /L, and platelet count of 1,437 × 10 9 /L. Bone marrow imaging showed extremely active proliferation, with a markedly increased granulocyte lineage, predominantly in the middle and late juvenile granulocytes, and an increased number of megakaryocytes, with small cytosols and few lobes. Immunophenotyping results revealed that lymphocytes, monocytes, granulocytes, and primitive cells accounted for 8.3%, 1%, 70.9%, and 3.4%, respectively. The proportion of primitive cells and granulocytes increased, with positive expression of CD34, CD117, CD56, CD38, and CD13. Fluorescence in situ hybridization analysis using dual-fusion probes showed the BCR::ABL1 classical fusion signal in 99% of 500 cells counted, and cytogenetic analysis was positive for 46, XX, t(9;22)(q34;q11). Thus, the patient was diagnosed with chronic phase CML. The Sokal and ELTS scores indicated high risk.
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Hematology
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A 25-year-old female patient (gravidity 0) presented with abdominal pain in February 2023. Her medical and family histories were unremarkable. The blood workup showed three elevated serum tumor markers, AFP at 2643 μg/L (normal < 8 μg/L), CA-125 at 145 U/mL (normal < 30 U/mL), and CA-19-9 at 113 U/mL (normal < 31 U/mL); the serum tumor marker hCG was normal at 2 mIU/mL (normal < 10 mIU/mL). An abdominal ultrasound revealed a 90 × 50 mm solid mass lesion containing calcifications and cystic growth, suspicious for an immature teratoma. The mass was located anterior to the uterus. Doppler ultrasound showed increased central vascularity of the lesion. Contrast-enhanced abdominal computed tomography (CT) showed a lobulated mass, likely a teratoma or dysgerminoma, which was noted anterior to the uterus. This mass extended towards the superior pelvic region, measuring up to 75 mm on the right and 65 mm on the left at its widest points. It contained areas of fat and calcification and appeared heterogeneous and hypodense. No evidence of metastases was seen in the abdomen or on contrast-enhanced thorax CT.
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Gynecologic oncology
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One week later, in February 2023, the patient underwent a laparotomy. A multilobulated mass with irregular surfaces, originating from the right adnexa and measuring approximately 13 × 16 cm, was observed. The right unilateral salpingo-oophorectomy specimen was sent for frozen section analysis, which indicated an immature teratoma. A systematic complete pelvic and paraaortic lymphadenectomy was performed from the level of the deep circumflex iliac vein to the renal vein. During the lymph node dissection, the left ovarian artery was preserved. A necrotic mass that was adherent to the uterine artery and ureter was observed just above the level of the right sacrouterine ligament. The mass was excised while preserving the ureter and the uterine artery. Several implants were observed on the omentum, and an omentectomy was performed. Palpation and observation of the abdomen revealed no other suspicious lesions.
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Gynecologic oncology
|
On paraffin pathology, the tumor measured 17 cm in diameter and consisted of approximately 50% immature elements with a histological grade of 3. The capsule was macroscopically intact. No lymphovascular or perineural invasion was noted. The posterior parametrium (right sacrouterine ligament) was infiltrated with the immature teratoma. The collected lymph nodes were nonmetastatic. The ascitic fluid was negative for malignancy. The patient was deemed to have stage IIIA grade 3 immature teratoma with parametrial involvement.
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Oncology
|
Her postoperative course was uneventful. Three weeks later in March 2023, she underwent oocyte retrieval and cryopreservation. One month after surgery, her serum AFP level had dropped (67 μg/L; normal <8 μg/L), her CA-125 was 193 U/mL (normal <30 U/mL), her CA-19-9 was 57 U/mL (normal <31 U/mL), and her serum hCG was 43 mIU/mL (normal <10 mIU/mL). She received two cycles of bleomycin, etoposide, and cisplatin (BEP) chemotherapy, which were completed in April 2023. Her serum AFP and hCG levels normalized after the chemotherapy.
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Oncology
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However, the patient presented with generalized abdominal pain in May 2023. The contrast-enhanced abdominal CT scan in May 2023 revealed a dense lesion approximately 12 × 13 mm in size showing nodular enhancement consistent with a tumor deposit on the left pelvic peritoneal surface . In the left adnexal area, dense solid structures consistent with implants or metastatic lymphadenopathy were identified adjacent to dilated pelvic vascular structures, where differentiation between them was not always clear. Additionally, right upper quadrant metastatic lesions approximately 10 × 16 mm in size were seen on the parietal and visceral peritoneal surfaces causing external indentation on the liver . At the junction of the 5th and 6th hepatic segments posteriorly, there was an ovoid-shaped heterogenous hypodense lesion measuring 13 × 26 mm, causing mild indentation, and containing scattered millimetric punctate calcifications . These imaging features were concerning for metastatic recurrence or residual tumor, which often demonstrate irregular contouring on imaging. However, these lesions were well circumscribed on imaging and the patient’s serum AFP, CA-125, and hCG were within normal range.
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Oncology
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The patient had another operation in June 2023 due to a suspected recurrence in the peritoneum. During exploration, approximately 1.5-cm tumoral implants and a 2.5-cm lobulated mass were observed on the peritoneum adjacent to the liver and in the hepatorenal pouch. The observed masses were excised and sent for frozen section analysis. The frozen section results were consistent with mature teratomas. A 1-cm tumoral lesion adjacent to the left ovary peritoneum was excised. Millimetric lesions consistent with implants were observed on the bladder peritoneum and in the rectovaginal pouch. The peritoneum of the bladder and the rectovaginal pouch were excised. The uterus and the left ovary were conserved.
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Gynecologic oncology
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Moreover, several admissions to the hospital for electroconvulsive therapy (a total of 42 sessions) were required, with a limited clinical response. Therefore, she was considered for DBS. From the first month of stimulation, the patient presented a significant and progressive clinical response supported by a significant reduction in her scores on the Hamilton Depression Rating Scale, the Beck Depression Inventory, and the Montgomery-Asberg Depression Scale, and an increase in her Global Assessment Functioning scores, which persisted at the last follow-up at nine months. No relapse of manic symptoms occurred, as reflected in her scores on the Young Mania Scale.
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Psychiatry
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It is worth mentioning a recently described case, not reported in the table due to its complexity, with concurrent STAT3::RARA and RARA::STAT5b rearrangements, who presented with APL-like features. The patient was treated with ATRA and ATO, did not show signs of differentiation or clinical response, also to CHT, and died of intracranial hemorrhage .
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Hematology
|
Tuberculosis (TB) is a significant global health concern caused by Mycobacterium tuberculosis . While it primarily affects the lungs, extrapulmonary involvement is common, with the kidneys being the most frequently affected organ in the genitourinary system. Isolated prostate TB is exceedingly rare, accounting for only 2.6% of genitourinary TB cases. This condition often presents with mildly elevated PSA levels and imaging findings that may resemble those of advanced prostate cancer. Extremely elevated PSA levels in cases of prostate tuberculosis are exceptionally rare, leading to diagnostic challenges, especially in TB-endemic regions. This case report discusses an instance of isolated prostate tuberculosis presenting with an unusually elevated PSA level in a patient experiencing persistent LUTS for seven months.
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Urology
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A 69-year-old male was referred to Tikur Anbessa Specialized Hospital (TASH) in Ethiopia for obstructive LUTS. His medical history included a transurethral resection of the prostate (TURP) procedure, with results indicating BPH. During clinical examination, he reported difficulty urinating, hematuria, and frequent urination over a seven-month period. His International Prostate Symptom Score (IPSS) was 32. Notably, he exhibited no constitutional symptoms such as night sweats, fever, weight loss, or signs of chronic illness, making clinical suspicion for tuberculosis less likely. He had no personal or family history of tuberculosis or prostate carcinoma. Vital signs were stable, with a blood pressure of 110/80 mmHg, pulse rate of 84 beats/min, respiratory rate of 18 breaths/min, and temperature of 36.4°C. A digital rectal examination revealed an enlarged, firm prostate with smooth contours.
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Urology
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Further investigations included urine analysis, which showed sterile pyuria, and cystoscopy, which revealed moderately enlarged lateral and median lobes of the prostate without any urethral strictures. His PSA level was significantly elevated at 1768 ng/ml, raising suspicion for prostate cancer. An abdominal ultrasound confirmed an enlarged prostate measuring 89 ml without any apparent mass. Imaging of the kidneys, urinary bladder, seminal vesicles, and testicles was normal. Chest radiography and lumbosacral imaging revealed no abnormalities suggestive of tuberculosis or metastasis. Given the high PSA level, an MRI was performed for further investigation.
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Urology
|
The patient commenced anti-tuberculosis therapy for six months based on local guidelines. Combination therapy with rifampicin, isoniazid, pyrazinamide, and ethambutol was administered for two months, followed by isoniazid and rifampicin for four months. Follow-up indicated a significant reduction in the PSA level (83 ng/ml at two months), and the patient reported improvement in LUTS, with an IPSS score of 9. Unfortunately, the patient was lost to follow-up, preventing further PSA-level assessment.
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Urology
|
MRI in this patient played a critical role in prompting further investigation and diagnosis, as the first biopsy was not representative of the patient's primary pathology. Transurethral resection of the prostate (TURP) and biopsy ultimately revealed the findings after a negative transrectal biopsy; however, the initial transrectal biopsy was performed without ultrasound guidance. This case highlights the importance of utilizing transrectal biopsy with ultrasound guidance to improve the efficacy of lesion detection, rather than relying on random biopsy methods.
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Urology
|
The patient is a young woman and works as a psychologist in a psychiatric community. She decides to start therapy one year after her grandmother’s death, who died suddenly of a heart attack. The patient initially reports experiencing a significant difficulty in ending a relationship with her friend, which she recognized as dysfunctional and unhealthy for her but from which she cannot extricate herself because of the guilt she feels at the idea of doing so. She complains, therefore, of a lack of assertiveness that makes her feel compelled to stay in the relationship, generating anxiety and insomnia and often leading her to give up her needs and desires. The patient has central beliefs that guide her behavior; in particular, she has the idea that expressing her needs makes her a bad person and that this coincides with the other person’s unhappiness. From the perspective of a finalistic model of mind, the patient’s goals refer to motivations and plans that guide individual functioning . In the field of psychopathology, in particular, the patient’s over-invested anti-goals assume relevance: these constitute scenarios and internal states experienced by the patient as unacceptable in their subjective representation . The patient’s main anti-goal (the worst case scenario that she wants to avoid at all cost) initially emerges as generating suffering in the other in view of fulfilling her legitimate needs. She imagines that communicating her suffering to the friend will deeply hurt her and make her feel responsible for the patient’s suffering. The patient, according to the clinical observation of the therapist and an external supervisor experienced in complex trauma, falls within the ICD-11 criteria for c-PTSD. Specifically, during her childhood she was repeatedly exposed to traumatic events of an interpersonal nature and attachment failures. She exhibits emotional regulation difficulties and chaotic self/other representations . The patient also appears to suffer from Pathological Affective Dependence (PAD) in her relationship with the friend, specifically reflecting the “Savior” profile . PAD is characterized by a dynamic where at least one person in the relationship experiences significant suffering, yet they remain in the relationship for various reasons—fear of losing dignity, concerns about safety, or worry about causing suffering to a significant other. This last aspect seems to perfectly describe the patient’s experience.
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Psychology
|
In this case report, the relational dynamics emerging within the therapeutic relationship represent an exemplification of the effects of complex trauma, PAD and subsequent fear of intimacy on interpersonal functioning. Furthermore, the shared reconstruction between patient and therapist of what their minds thinking at each impasse moment allows, for the first time, a clearer understanding of the various components that adverse relational experiences can generate, starting from the unmet basic needs of love, dignity, and safety and the non-integration of self and other representations. Difficulty integrating multiple and changing representations of self and others leads these patients to oscillate chaotically between extreme mental states. The therapeutic setting takes on the appearance of a courtroom within the patient’s mind, where she sometimes assumes the role of a stern and faultless judge and, at other times, that of a victim unjustly accused, having to fight to defend herself. Although traumatic memories are reactivated in the face of real elements, they are not exact replicas of what has happened in the patient’s life. They may include the patient’s fantasies and misperceptions at the time, excluding parts of the experience . Guided by the interpretive processes that serve her in coherently resolving the state of uncertainty generated by the therapist’s absence , the patient exhibits typical behaviors and communications that elicit predictable responses . It could happen that the patient hosts the therapist in that courtroom, unaware that she is assigning the therapist the role that confirms her dysfunctional belief and the therapist, unaware, embodies it perfectly, intertwining her fears with the patient’s. Their thoughts, feelings, and behavioral tendencies mirror each other, and may result in chaos, confusion, and suffering for both of them. Indeed, in interpersonal cycles, both participants feel disappointed and hurt: the negative interaction and pain that results from it are likely to constitute obstacles to metacognitive functioning that could help to break the cycle and get out of the impasse . Despite the patient struggling against the possibility of emotionally depending on the therapist, she experiences deep needs for dependency and attachment in the therapeutic relationship for the first time, which are felt as intolerable and relentless. When memories related to traumatic experiences are evoked through separation from the therapist, the patient feels a sense of threat; the fear of staying in the relationship can take the form of an exaggerated perception of being abandoned, blamed, considered repulsive, and therefore ‘contaminating’ the therapist . The patient experiences unsustainable feelings of fear at the slightest loss of coherence from the therapist, such as a change in an appointment or a new haircut and, like the child facing the sudden change of a mother’s expression, she struggles to make sense of that experience . Throughout the treatment, a significant focus was placed on interventions such as chair-based techniques, empathic attunement, and reflective dialogues to explore and reprocess the patient’s emotional states. These methods aimed to facilitate an experiential understanding of the patient’s fragmented parts and to foster a deeper emotional connection. The therapist’s calibrated self-disclosure and the following collaborative empiricism both played a crucial role in creating an atmosphere of trust, modeling vulnerability, and reinforcing the patient’s capacity for emotional expression . The use of chair-based techniques allowed the patient to externalize conflicting inner-voices and to engage in dialogues that promoted self-compassion and integration.
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Psychotherapy
|
The patient was referred to our tertiary centre from a community ophthalmologist due to reduced vision, eccentric fixation, and foveal thinning. His initial visit to our clinic took place at age 10 years. At this visit he received an ophthalmological exam including the following: slit lamp examination of the anterior eye; dilated fundoscopy; spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) with a Spectralis (Heidelberg Engineering GmbH, Heidelberg, Germany); and recording of the full-field and multifocal electroretinogram (ffERG; MF-ERG) with an Espion system (Diagnosys LLC, Lowell, MA, USA).
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Ophthalmology
|
Proband 1 is a 51-year-old male diagnosed with RP at age 3, initially presenting with photophobia. His height was measured at 174 cm (50th percentile), weight was 81.5 kg, and head circumference was 56 cm (50th percentile), with no dysmorphic features or non-ophthalmological health concerns. His symptoms included worsening night blindness and difficulty adjusting to light variations. At age 50, his ophthalmic examination revealed severe central visual impairment (20/500 OD, 20/640 OS) and peripheral visual field defects. Anterior segment examination showed bilateral central subcapsular cataract with intraocular pressure (IOP) of 20 mmHg. Fundus examination showed optic disc pallor, extensive pigmentary changes with bone spicules, macular atrophy, and thinned retinal vessels. FAF demonstrated hypoautofluorescence in the peripheral retina, extending into the superior and inferior nasal quadrants, and a hyperautofluorescent foveal ring . OCT showed outer retinal layer loss and retinal pigment epithelium (RPE) thinning . These findings led to a clinical diagnosis of early onset non-syndromic CRD.
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Ophthalmology
|
Proband 2 , the 55-year-old sister of proband 1, was referred at age 51 due to eye fatigue. Her height was measured at 152 cm (10–25th percentile), weight was 56.5 kg, and head circumference was 55 cm (50th percentile), with no dysmorphic features or additional health concerns. She exhibited milder ophthalmological symptoms, including mild photophobia and peripheral visual field loss, especially in the lower and right lateral areas, but denied experiencing nyctalopia. Upon inquiry, childhood difficulties with object tracking were retrospectively reported. During the initial evaluation, her ophthalmic examination showed moderate visual impairment (20/100 OD, 20/50 OS) and bilateral posterior subcapsular cataracts. Fundus examination revealed less pronounced bilateral pigmentary changes and bone spicules in the inferior and temporal peripheral retina compared to proband 1, with normal optic disc and retinal vasculature. FAF revealed localized bilateral hypoautofluorescent patches in the inferior and temporal peripheral retina, sparing the posterior pole with a hyperautofluorescent demarcation line . OCT showed minimal structural abnormalities with slight outer retinal layer disruption and preserved inner retina and foveal contour . ffERG showed delayed and reduced photopic responses, preserved scotopic responses, and abolished flicker responses. MfERG revealed reduced central amplitudes . These findings indicated a milder form of non-syndromic CRD.
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Ophthalmology
|
In 1979, Dr. John O. Susac published the cases of two women with clinical presentations that posed diagnostic difficulties . The first of the two women had presented with psychiatric manifestations, pyramidal signs, recurrent florid retinal infarcts, and disturbances of hearing and balance. The clue to the microangiopathic underpinning of the enigmatic presentation had come from ophthalmoscopic observations of multiple non-embolic branch retinal artery occlusions (BRAOs) as well as brain biopsy findings of sclerosis of small pial and cortical arteries. Investigations for all known causes of small vessel angiopathy were normal. The second patient had presented similarly but with more prominent attacks of acute hearing loss at onset. Both patients were eventually disabled by recurrent attacks involving the brain, retina, and ears. Susac's syndrome is an orphan disease with just about 500 cases published worldwide so far . Its true incidence is believed to be probably higher, but many cases either are misdiagnosed as multiple sclerosis or go unreported.
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Neurology
|
Owing to the rarity of this condition and the high likelihood for misdiagnosis with grave implications, we present our case of a 41-year-old Danish man who presented over time with the classical triad of Susac's syndrome. His symptoms evolved over a period of 36 months and led to disability before the correct diagnosis was made. He had been misdiagnosed and treated as multiple sclerosis because of his brain lesions. His case will add to the existing literature on this rare entity and help increase awareness of its presenting features and how to distinguish it from mimics, the top among which is multiple sclerosis. Furthermore, the fact that the patient went into remission after receiving a single course of cladribine (offered with the intention to treat multiple sclerosis) raises an interesting question about the possible efficacy of cladribine in Susac's syndrome.
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Neurology
|
A 41-year-old Danish man with a known history of hyperlipidemia on treatment with a statin was referred to the Neurology service by his endocrinologist in August 2020 on the account of orthostatic dizziness and random tingling in his face, lips, and fingers which had been present for several days. Prior to his referral, a head MRI scan had been obtained based upon a suspicion of multiple sclerosis. The MRI had revealed multiple white matter lesions which were reported as suggestive of multiple sclerosis .
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Neurology
|
Clinical assessment at this stage showed normal neurological examination, normal cardiovascular examination, and normal orthostatic vital signs. Owing to the sizes and distribution of brain lesions and the history of dyslipidemia, the assessing neurologist favored vascular etiology of the brain lesions and prescribed aspirin alongside advice to intensify lipid management. Dizziness was presumed to be caused by hypovolemia, and increased fluid intake was recommended.
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Neurology
|
About six weeks later, he returned with intolerable orthostatic dizziness, accompanied by decreased hearing and tinnitus. Clinical examination revealed significant orthostatic tachycardia upon standing, which was persistent and met the criteria for postural orthostatic tachycardia syndrome (POTS). Pure tone audiometry was normal despite subjective reduced hearing. He was managed for POTS with intravenous fluids and was discharged after 48 hours on non-pharmacological measures for POTS. On his follow-up visit one week later, he complained of dizziness upon rapid head turning and when negotiating roundabouts during driving, suggesting vestibular hypofunction. He also continued to experience muffled hearing in his left ear, along with tinnitus and hyperacusis. A petrous bone MRI was obtained by his ENT physician to exclude canal dehiscence, but it came back normal. All his symptoms slowly dissipated over the next five months.
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Otolaryngology
|
In July 2021, one year after the initial presentation, he developed an abnormal sensation in his feet, which felt like "walking on cotton wool." There was no objective sensory loss in his lower extremities except for allodynia at the soles of both feet. Numbness began within the next three days and slowly spread upwards to his perineum, together with "tiredness" in his calf muscles. Nerve conduction studies and somatosensory evoked potentials (SSEP) could not be performed at this stage because they were declined by the payer. He returned in March 2022 (eight months later) with spontaneous jerking in his legs, and his examination showed gait unsteadiness and lower extremity hyperreflexia. Head MRI was repeated and revealed new lesions which showed diffusion restriction in the white matter of the left temporal lobe. The old lesions from August 2020 were still visible but showed gliotic features .
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Neurology
|
He continued to develop new symptoms, including sensory disturbances in both legs and the right hand as well as gait imbalance and tripping episodes. Whole spine MRI was normal (not shown). Physical therapy was prescribed at this stage. One month later, he presented to the ophthalmologist with two sequential episodes of sudden visual loss in his right temporal visual field. Right optic neuritis was suspected, and visual evoked potential (VEP) and ocular coherence tomography (OCT) were performed. VEP showed normal P100 latencies bilaterally, while OCT revealed increased retinal nerve fiber layer (RNFL) thickness in the right eye. Perimetry showed mild right upper field defect.
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Neurology
|
In August 2022, he developed new-onset vertigo and blurring of vision and still had jelly legs and gait imbalance from his previous attack. Repeat head MRI showed new lesions in the right superior frontal gyrus subcortical white matter, genu and body of the corpus callosum, right corona radiata, right parietal subcortical white matter, and right cerebellar hemisphere .
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Neurology
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Within a week, he developed a new difficulty with micturition and urinary retention. His gait was ataxic, and he showed lower extremity hyperreflexia with bilateral ankle clonus. He was admitted for a five-day course of intravenous methylprednisolone, lumbar puncture, and in-patient physical therapy. His balance improved mildly after pulse steroid, but he continued to have sensory symptoms in his legs. Cerebrospinal fluid (CSF) analysis showed very mild mononuclear pleocytosis (6 WBCs/mm 3 ), mildly increased protein (99 mg/dl), and the absence of oligoclonal bands. Tibial nerve SSEP and nerve conduction studies were performed at this stage and found to be normal. He showed modest gait improvement over the following month but continued to be bothered by dizziness and lower extremity cramps. At this stage, relapsing-remitting multiple sclerosis was seriously considered, and he was advised to repeat a head MRI in six months.
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Neurology
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Two months later, he made a new visit to the ENT physician for a fresh attack of sudden left-sided hearing loss and tinnitus. Pure tone audiometry and petrous bone CT scan were repeated. The petrous bone CT scan was normal, while the audiogram confirmed a new left SNHL in low frequencies. His hearing loss was significant this time and failed to improve despite a trial of oral prednisolone prescribed by the ENT. Hence, hearing aid was prescribed. Several weeks later, in December 2022, he was brought to the emergency room with a sudden onset of new brain symptoms, which included slurring of speech, dizziness, imbalance, and falls. Repeat head MRI showed gliosis of the old lesions as well as new lesions appearing in the anterior aspect of the left thalamus, frontoparietal subcortical white matter, periventricular white matter, and left cerebellar white matter. Some of the new lesions showed diffusion restriction but none showed gadolinium enhancement .
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Neurology
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The lesions were reported as likely demyelinating in nature because they were thought to not follow any vascular territories and to be oriented perpendicularly to the ventricles. An urgent admission was ordered for another five-day course of intravenous methylprednisolone following which he was discharged. He was lost to follow-up thereafter until June 2023. During this six-month gap, he had established care at another hospital where he was given a diagnosis of relapsing-remitting multiple sclerosis and started on disease-modifying therapy. He commenced the first course of oral cladribine at that hospital In January 2023 and completed it the following month. A few weeks after completing the first course of treatment, he developed sudden hearing loss in his right ear, followed within a week by further deterioration of hearing in his left ear. Shortly afterwards, he suffered an additional attack of sudden vision loss in the right upper quadrant of his visual field. He underwent a repeat head MRI at the end of March 2023 which showed numerous T2 hyperintense lesions in the juxtacortical and periventricular white matter, corpus callosum, and cerebellar hemispheres, with some lesions appearing hypointense on T1 (black holes), but there was no increase in lesion load in comparison to the immediate previous scan in December 2022.
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Neurology
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He came back to our hospital in June 2023. At the time, he had residues of urinary incontinence (for which he was taking mirabegron), gait unsteadiness, profound left SNHL, and right eye upper visual field loss. His neurological examination demonstrated lower extremity spasticity with hyperreflexia and gait ataxia. Bringing to the fore all of his different attacks over time, we considered the known brain-eye-ear (BEE) syndromes and came to the conclusion that the best fit which unified his complex symptomatology over the years was Susac's syndrome. Other diagnostic considerations were mitochondrial cytopathies, central nervous system (CNS) infections, primary and secondary CNS vasculitides, and genetic vasculopathies. Blood lactate was normal, CSF analysis was normal, serum inflammatory markers were normal, and vasculitis screening was also normal. Genetic tests for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and TREX-1 mutation were also normal. A final diagnosis of Susac's syndrome was made in June 2023, nearly three years from disease onset. Considering that he had not developed any further new symptoms from March 2023 and that his brain MRI had been stable, we considered that he could be in remission. No further treatment was given, and he was placed on a six-monthly follow-up with audiometry, visual field assessment, and head MRI after due counseling regarding his diagnosis. One of his later audiograms done in September 2023 is shown in Figure 5 .
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Neurology
|
In retrospect, we think his earliest symptom complex of recurrent dizziness, hearing loss, and tinnitus within the first three months was likely a result of cochlear and vestibular organ microinfarcts which went unrecognized. One of the two original cases published by Dr. John O. Susac also featured prominent vestibular involvement . Even though audiometry was normal early on, it eventually became abnormal after further hearing attacks and showed SNHL in low frequencies. This is consistent with the expectation in Susac's syndrome where low to middle frequencies are typically affected due to the preferential damage to the cochlear apex . The fact that our patient eventually required a hearing aid points to the degree of disability that can occur when this condition is misdiagnosed or recognized late. Restricted presentations with isolated vestibular involvement have been reported, further emphasizing the need to have a high index of suspicion for this condition .
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Otolaryngology
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Although Susac's syndrome is rare, it is crucial for the practicing neurologist to be aware of its clinical features and how it differs from multiple sclerosis. Our case illustrates the typical triad of Susac's syndrome and how late recognition can lead to disability. We also highlight the essential distinguishing features of Susac's syndrome from multiple sclerosis, the condition it is often confused with.
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Neurology
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A 58-year-old female patient reported left shoulder pain for 2 months, lifting strength loss, and progressive worsening. She had no history of trauma or pain irradiation to the arm. The patient had undergone physical therapy with no symptom improvement. She had a history of fibromyalgia, anxiety disorder, and adhesive capsulitis on the contralateral shoulder. The physical examination revealed normal findings on ectoscopy, limited joint mobility only for lateral rotation (active range of motion in elevation, lateral rotation, and medial rotation of 150°, 70°, and T10 for the right shoulder, and of 150°, 50°, and T10 for the left shoulder respectively), grade-4 lifting strength (positive Jobe test), positive irritative maneuvers for subacromial impingement (positive Neer and Hawkins tests), and inflammation of the long head of the biceps tendon (positive Speed and Yergason tests). The radiographs were unremarkable. A magnetic resonance imaging (MRI) scan showed an oval structure with 2 cm in diameter in the anteroinferior region of the glenohumeral joint with internal foci of hypointense signal .
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Orthopedics
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We did not prescribe adjuvant therapies. We started analgesic and motor physiotherapy in the first week after surgery. Initially, the patient had pain and joint stiffness that gradually improved over the following 10 months. The first postoperative follow-up MRI, performed 6 months after surgery, showed signs of capsular thickening consistent with adhesive capsulitis. The second MRI, 1 year and 9 months after surgery, did not show images suggestive of adhesive capsulitis or signs of neoplasm recurrence . Currently, 4 years and 5 months after surgery, the patient reports being asymptomatic, performing physical activity, and presenting full functional recovery in the operated (left) shoulder, with good active mobility (active range of motion in elevation, lateral rotation, and medial rotation of 150°, 70°, and T10 for the right shoulder, and of 150°, 60°, T10 for the left shoulder respectively) . She also presents grade-5 lifting strength with no pain (negative Jobe test), negative results for irritative maneuvers for subacromial impingement (negative Neer and Hawkins tests), and negative results for inflammation of the long head of the biceps tendon (negative Speed and Yergason tests).
|
Orthopedic surgery
|
The case herein reported is unusual, and we call attention to the differential diagnosis of adhesive capsulitis. We emphasize the importance of requesting an MRI scan for patients with refractory capsulitis to exclude or identify other lesions, such as PVNS. Arthroscopic resection of the lesion and synovectomy resulted in excellent functional outcomes during a follow-up longer than 4 years, with no recurrence observed on imaging tests.
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Orthopedic surgery
|
Parental informed consent was obtained for this study. The family pedigree is shown in Figure 1 . The parents (III-1 and III-2), who are first cousins, are both healthy. Patient iv-1 is a male born at term via eutocic delivery following a pregnancy complicated by first-trimester abortion threats. At birth, he was small for gestational age, weighing 2020 grams, with a length of 43 cm and an occipital-frontal circumference (OFC) of 28.2 cm. He presented with generalized hypotonia, feeding difficulties, and delays in motor and language development, walking at 18 months and speaking his first word at 30 months.
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Genetics
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His gait has always been wide-based with flexed knees and trunk, and he exhibited limitations in elbow joint movements. Until the age of 4, he experienced seizures without fever. A brain CT scan performed at age 8 revealed agenesis of the corpus callosum and dilation of the lateral ventricles, while the EEG was normal. Throughout childhood, he experienced severe photosensitivity and developed widespread freckles. During school age, he was diagnosed with learning difficulties and moderate-to-severe intellectual disability. He also presented growth delays and weight deficits.
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Neurology
|
His clinical phenotype includes microcephaly, short stature, weight deficit, hypotonia with limb flexion, scoliosis, widespread freckles on the face, trunk, hands, and genitalia, scleral telangiectasias, and hearing loss. His facial appearance is characterized by a wizened expression, sunken eyes, photosensitivity, and skin that appears wrinkled and aged. He also demonstrates a progressive loss of facial subcutaneous fat. Brain MRI confirmed agenesis of the corpus callosum and dilation of the lateral ventricles, while the EEG was abnormal.
|
Genetics/Neurology
|
Patient IV-2 is a male born at term via eutocic delivery following an uneventful pregnancy. At birth, he was small for gestational age, weighing 2000 g, with a length of 47 cm and an occipital-frontal circumference (OFC) of 31 cm. At age 4, he exhibited normal motor development but showed language delay and failure to thrive. Behavioral assessments were unremarkable, and his mood was euthymic. A brain MRI at that time was normal, and the EEG was within normal limits. Learning difficulties became evident during his school years.
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Pediatrics
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Four years later, a correction with anterior L1–L3 spondylodesis using the Baguera Oblique Block (B.O.B) technique was performed due to left lumbar systemic scoliosis. One year later, an extension of the spondylodesis to Th11 was performed along with partial resection of an unknown mass in the retroperitoneal space of the left lumbar region. Complete resection of the mass was not possible due to limited access to the tumor. Histopathological examination confirmed a neurofibroma. A mandibular epidermal cyst was excised 11 years later. Based on the clinical symptoms of a 21-year-old patient, next-generation sequencing (NGS) analysis of the NF1, NF2, SMARCB1, and SPRED gene sequences was performed, which revealed the presence of the c.1381C>T variant in one allele of the NF1 gene. The diagnosis was supported by clinical symptoms observed over many years. In October 2023, a core needle biopsy was performed on a giant sacrococcygeal tumor in the left lumbar region. The tumor was a malignant spindle cell neoplasm containing pleomorphic cells, necrotic areas, and pathological mitotic figures. The result was consistent with an MPNST with a high degree of malignancy. In addition, an MRI indicated infiltration of the intervertebral foramina by the tumor. The patient was offered palliative chemotherapy, which the patient rejected. In December 2023, the described tumor was resected, it disintegrated, but the surgical margin was negative. Histopathological examination revealed fragments of MPNST tissue containing cells with pleomorphic nuclei and areas of necrosis. Additionally, during the operation, the surgeon identified five distinct tumors in the retroperitoneal pelvic space, which was later confirmed by computed tomography (CT) imaging. One month after surgery, FISH analysis identified the MDM2 gene in the patient, confirming its amplification.
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Neurology/Oncology
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Two months after radiotherapy, the patient was admitted to the Department of Surgical Oncology, complaining of a cough, shortness of breath, tachycardia, fever, and right shoulder pain. The symptoms did not resolve after surgery. A tumor resection was performed from the left lateral retroperitoneal space measuring 10.0 × 10.0 × 8.0 cm, along with another tissue fragment measuring 12.0 × 3.0 × 0.5 cm, and distally measuring 5.0 × 7.0 cm .
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Oncology
|
One week before admission to the hospital, a chest CT showed extensive tumors of the right lung involving all lobes and measuring 140 × 119 × 183 mm. The tumor was adjacent to the pericardium, diaphragm, pleura, right pulmonary artery, and intermediate bronchus. The periphery of the tumor showed atelectatic changes .
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Pulmonology
|
Following this diagnosis, the patient was admitted to the Department of Thoracic Surgery and Transplantation, presenting with a chronic cough accompanied by expectoration of white sputum, dyspnea, heartburn, intermittent tachycardia, and right shoulder pain. A right-sided pneumonectomy followed by a mediastinal lymphadenectomy was performed. A tumor measuring 220 × 130 mm was identified. Subsequently, the right branch of the pulmonary artery was isolated, ligated, and transected. The right main bronchus was severed with a stapler, after which the esophagus was dissected from the tumor. The pericardial sac was opened from the front and the isolated superior pulmonary vein was fixed with a stapler. The inferior pulmonary vein was severed with a stapler and the tumor was dissected from the mediastinum together with the severed phrenic nerve. The tumor was detached from the diaphragm and removed. In addition, lymph nodes 4R, 7, 10R and the diaphragmatic infiltrate through the tumor, and a fragment of the parietal pleura was removed. . After the surgery, the patient’s well-being improved, with no shortness of breath or coughing attacks. The pain in the right shoulder and arm subsided. There was only slight irritation in the throat.
|
Thoracic Surgery
|
A gross examination of the specimen indicated that the right lung was 80% filled by a tumor with the largest dimension of 220 mm. Histopathology showed a spindle cell, partially pleomorphic malignant neoplasm with prominent necrosis, high mitotic activity, and perivascular accentuation, consistent with a metastatic MPNST. Additionally, a paratracheal nodule was identified with histological features of a neurofibroma. The tumor locally crossed the pleura and the surgical margin, which was confirmed microscopically. . After removing the metastases, the patient qualified for treatment with Trametinib, an oral anticancer drug that inhibits mitogen-activated protein kinase 1/2 (MEK1/2).
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Oncology
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An 81-year-old female patient was diagnosed with a 2.2 cm × 1.3 cm squamous cell carcinoma on her left temple. A wide excision was used to ensure complete tumor removal, and the temporal branch of the facial nerve was successfully preserved. A 4 cm × 6 cm lateral arm free flap was harvested and transferred to the defect area, and it provided ample tissue coverage. The flap healed uneventfully with no tumor recurrence .
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Dermatology and Plastic Surgery
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A 78-year-old woman was referred to our clinic with squamous cell cancer in her right temporal area. She had already undergone an excisional biopsy of a 2 cm × 1 cm protruding lesion at another hospital, and there was a linear scar on her temple. We planned her reconstruction using a lateral arm free flap from her right upper arm, with wide lesion excision (1 cm tumor-free resection margin). After the extensive excision of the tumor, the recipient’s superficial temporal artery and vein were prepared. After the flap was transferred, the superficial temporal vessels were anastomosed to the posterior radial collateral artery and its vena comitantes, and the operation was completed after the flap was inset. Seven months after the operation, the patient was relatively satisfied with the surgical scars at both the donor and recipient sites .
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Plastic Surgery
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A 52-year-old male with a palpable mass in his left temporal area was referred to a plastic surgery clinic. A punch biopsy showed that the mass was myxofibrosarcoma. We widely excised the tumor with a 1~1.5 cm surgical safety margin. Fresh frozen sections were found to be negative, with free margins. A lateral arm fasciocutaneous flap was elevated and transferred to the defect. Microanastomosis was carried out using superficial temporal vessels as recipients. The flap healed uneventfully with no tumor recurrence .
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Plastic Surgery
|
A 71-year-old man with a squamous cell carcinoma on his left temple visited our clinic. The cancer measured 1.5 cm × 2.5 cm, and preoperative MRI showed invasion into the subcutaneous tissue close to the superficial temporal fascia. A radical resection was performed, including the superficial temporal fascia with a 1 cm surgical safety margin. Fresh frozen sections showed free margins. We reconstructed the defect using a left fasciocutaneous lateral arm free flap. The flap and the donor site healed uneventfully. Eleven months later, there was no tumor recurrence, and the flap showed excellent results with good contours. However, left forehead hemi-palsy was noticed, owing to the resection of the frontal branch of the facial nerve .
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Oncology and Reconstructive Surgery
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A 53-year-old man visited our clinic with basal cell cancer on his right temple. We widely excised the tumor with a 1 cm surgical safety margin and successfully preserved the temporal branches of the facial nerve. We harvested a 3 cm × 4 cm lateral arm flap and prepared the superficial temporal artery and vein underneath the tumor. The flap healed uneventfully, with no tumor recurrence .
|
Dermatology and Surgical Oncology
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