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462 articles
October 202624
Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication.
A woman with an undisclosed clinical diagnosis of NF1, lost to follow-up as a teenager, received a molecular diagnosis after prenatal chromosome microarray was performed because first-trimester screening indicated a…
Treatment-refractory chronic urticaria with neutrophilia and elevated inflammatory markers.
A 38-year-old man had long-standing chronic urticaria that persisted despite standard guideline-directed treatment. Persistent neutrophilia and elevated inflammatory markers raised concern that the presentation might…
Recurrent Angiomyofibroblastoma of the Vulva: MRI Characteristics and Long-Term Monitoring Insights.
A 33-year-old woman presented with a painless, pedunculated right vulvar mass, excised and diagnosed pathologically as angiomyofibroblastoma (AMFB).
Conservative management of disseminated intravascular coagulation caused by uterine leiomyoma degeneration in pregnancy: Case report and review.
A 35-year-old woman at 25 weeks’ gestation presented with lower abdominal pain and a tender 6.5 cm uterine leiomyoma; fetal well-being and placental appearance were normal on ultrasonography.
Integrated management of uterine prolapse during pregnancy: Case report and literature review of successful term delivery following cervical cerclage and pessary utilization.
A 43-year-old woman with recurrent pregnancy losses, including a second-trimester loss attributed to cervical incompetence, presented at 11 weeks’ gestation with stage III uterine prolapse.
Acute kidney injury after aminoglycoside exposure in two cystic fibrosis patients receiving triple CFTR modulator therapy.
Two patients with cystic fibrosis developed acute kidney injury after their first aminoglycoside exposure while receiving triple CFTR modulator therapy.
Voclosporin for the treatment of lupus nephritis flares in patients with inadequate response to mycophenolate mofetil and belimumab: a case series.
This case series describes three patients with lupus nephritis (LN) flares and nephrotic-range proteinuria despite treatment with mycophenolate mofetil and belimumab.
Haemodialysis in haemophilia B: a case report. Challenges and strategies from a nephrology perspective.
A 68-year-old man with severe haemophilia B and kidney failure required kidney replacement therapy. He received prophylactic Idelvion® (albutrepenonacog alfa), then underwent arteriovenous fistula creation and started…
Hypothalamic Neurochemical and Microglial Suppression in Long-Standing Human Hibernation-Like Syndrome.
A 57-year-old woman had a more than 30-year history of winter-associated hypothermia, neuroendocrine instability, psychomotor suppression and circannual rhythmicity.
A rare cause of postpartum hemoperitoneum: Uterine laceration secondary to sustained transabdominal uterine massage following vaginal delivery: A case report.
After vaginal delivery, a patient with an unscarred uterus developed postpartum hemorrhage from uterine atony and was treated with uterotonics and transabdominal uterine massage.
Cutaneous clues: Malignant acanthosis nigricans and tripe palms as first signs of recurrent endometrial carcinoma.
A 73-year-old woman, disease-free for six years after treatment of stage IB endometrial endometrioid adenocarcinoma, developed acanthosis nigricans and tripe palms.
PIH1D2 Loss-of-Function Directs Ciliary and Cell Cycle Defects Resulting in Left Isomerism With or Without Biliary Atresia.
Two unrelated patients with left isomerism heterotaxy were found by genome sequencing to have biallelic loss-of-function variants in PIH1D2.
Secondary Syphilis.
A 46-year-old man presented with two months of progressive, painful visual loss. Examination showed bilateral panuveitis alongside widespread ulcerative skin lesions and alopecia.
High-intensity focused ultrasound as a bridging vascular-modulating therapy for fertility-sparing management of placental site trophoblastic tumor complicated by uterine arteriovenous fistula: a case report.
A 23-year-old woman had persistently plateaued serum human chorionic gonadotropin after hysteroscopic management for suspected incomplete abortion.
Establishing Potosi Virus as a Human Pathogen: Fatal Neuroinvasive Disease in a B-Cell-Depleted Patient.
A 37-year-old woman with multiple sclerosis receiving long-term rituximab developed rapidly progressive dementia. MRI showed progressive generalized atrophy, while cerebrospinal fluid had only transient, minimal…
Magnesium oxide tablets form rigid masses in xanthan gum-based thickeners: A physicochemical hazard revealed by a clinical case.
An older adult with a malignant esophageal stricture developed acute esophageal obstruction from a foreign body identified as a swollen, non-disintegrated magnesium oxide (MgO) tablet.
Tracheoscopic Management of Postoperative High Tracheoesophageal Fistula Using Covered Self-Expanding Metallic Stents: A Comparative Report of 2 Cases With Divergent Outcomes.
Two men developed high tracheoesophageal fistulas after esophageal cancer surgery. In the 67-year-old, a 0.6 cm fistula 4 cm below the vocal folds was treated with a straight covered self-expanding metallic stent; after…
Expanding the molecular and phenotypic spectrum of MMP2-related multicentric osteolysis, nodulosis, and arthropathy: two brothers with marked intrafamilial variability and a review of the literature.
Two brothers, aged 14 and 8 years, from a consanguineous family had molecularly confirmed MMP2-related multicentric osteolysis, nodulosis, and arthropathy (MONA), with the same homozygous c.1648 C > T (p.Arg550Ter)…
Infantile posterior fossa atypical teratoid/rhabdoid tumor: navigating diagnostic complexity and molecular paradigms.
A female infant younger than 1 year presented with a massive cystic-solid posterior fossa tumor and rapidly developing obstructive hydrocephalus.
A 61-Year-Old Woman With Locally Advanced Pancreatic Adenocarcinoma Managed With Neoadjuvant FOLFIRINOX, Total Pancreatectomy, Splenectomy, Portal Vein and Common Hepatic Artery Resection, and Combined Vascular Reconstruction Using Splenic Artery Transposition: A Case Report.
A 61-year-old woman presented with progressive jaundice and CA 19-9 of 210 U/mL. Biopsy confirmed pancreatic ductal adenocarcinoma, and imaging showed portal vein and common hepatic artery involvement without distant…
Vertebral fractures in a young woman: the impact of hypogonadism, glucocorticoids, and chronic disease.
A premenopausal woman developed painful vertebral fractures while receiving prednisolone for newly diagnosed systemic lupus erythematosus.
A missense variant in LAMB3 underlies variable expressivity in familial tooth agenesis and microdontia.
A three-generation family presented with non-syndromic dental anomalies, including missing teeth (oligodontia), microdontia and delayed eruption.
Unmasking Weakness: A Case of Pembrolizumab-induced Myasthenia Gravis With Concurrent Myositis.
An 86-year-old patient with renal cell carcinoma developed generalized weakness, dysphagia, dysphonia, eyelid ptosis, and ophthalmoparesis shortly after the second dose of pembrolizumab.
An Elusive Diagnosis of Strongyloides Infection Masquerading as Daptomycin-Induced Eosinophilic Pneumonitis.
A middle-aged man with alcoholic cirrhosis developed peripheral eosinophilia, bilateral pulmonary nodules, migratory consolidative opacities, and pleural effusions while receiving daptomycin for polymicrobial…
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