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643 articles
October 202624
A novel de novo variant of CDKL5 in an Iranian child with infantile-onset refractory epilepsy.
An Iranian girl presented with developmental delay, hypotonia, and refractory seizures. Whole-exome sequencing identified a de novo CDKL5 frameshift variant, c.1037_1038delTCinsCAGATCTAA (p.Ile346Thrfs*14), which Sanger…
Lymphoplasmacytic Lymphoma Involving Marrow-Containing Submandibular Heterotopic Ossification: A Case Report and Literature Review.
A 77-year-old man presented with a gradually enlarging, increasingly uncomfortable calcified nodule in the left submandibular region.
Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.
The report describes a new case of glycogen storage disease type 15 (GSD15), alongside analysis of heart explants from two previously reported patients.
Management of extravasations of enfortumab vedotin and pembrolizumab: a case report and mini review of the current literature.
A 56-year-old patient with metastatic urothelial carcinoma developed extravasation of enfortumab vedotin and pembrolizumab during the first treatment cycle after the port catheter dislocated from the cephalic vein.
Approach to the patient with APS-1/APECED.
This article presents five cases of autoimmune polyendocrine syndrome type 1 (APS-1/APECED), a disorder caused by impaired immune tolerance and typically associated with biallelic AIRE variants.
Third lumbar transverse process syndrome with acute abdominal pain as the main clinical manifestation: A case report.
A 66-year-old man presented with persistent left lower-quadrant abdominal pain radiating to the lower back, worsened by postural change, standing, and walking.
Complete remission of minimal change disease after antiviral monotherapy in a patient with immune-active chronic hepatitis B: A case report.
A 42-year-old woman presented with generalized edema, weight gain, hypoalbuminemia, and nephrotic-range proteinuria, with a urine protein-to-creatinine ratio of 4.3 and preserved renal function.
Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.
A 21-year-old man had progressive weakness beginning in the distal lower limbs at age 3, later affecting proximal and masticatory muscles.
Presumed oxaliplatin-related Guillain-Barré syndrome: A case report and review of chemotherapy-related Guillain-Barré syndrome.
A 77-year-old woman with metastatic cholangiocarcinoma and colorectal carcinoma developed rapidly progressive, symmetric ascending motor weakness about 2 weeks after her last cycle of gemcitabine, oxaliplatin…
Ectopic thyroid tissue accompanied by distinct blood supply and lymphoid tissue within the carotid sheath - a case report.
A 42-year-old man had an asymptomatic right-sided neck mass detected during a routine examination. Ultrasound showed a normally located thyroid and a well-defined 1.3 cm × 0.9 cm × 0.5 cm mass with echotexture similar…
Intracranial metastasis as a mimic of amyloid-related imaging abnormalities.
A 79-year-old woman with biomarker-confirmed Alzheimer’s disease developed progressive vasogenic edema while receiving lecanemab.
Primary Intermammary Breast Carcinoma Presenting With Direct Sternal Invasion: A Diagnostic Pitfall of Standard Screening Mammography.
An 85-year-old woman noticed a hard, non-tender sternal nodule despite an unremarkable screening mammogram 8 months earlier.
Effects of stellate ganglion blockade on pulmonary artery pressure and sympathetic baroreflex function at high altitude: a case study in treated hypertension.
A 44-year-old man with treated hypertension underwent physiological assessment at sea level and after 5–8 days at 3,800 m. High-altitude exposure was accompanied by increases in pulmonary artery systolic pressure…
Focal Epithelial Hyperplasia in a Somali Child: A Case Report and Review of Management with Topical Imiquimod.
An 8-year-old Somali girl had a 3.5-year history of asymptomatic, progressively increasing oral lesions. Examination showed multiple soft, flat-topped verrucous papules on the lower labial, buccal and lingual mucosa and…
Micro-layering technique for esthetic rehabilitation. A case report.
A male patient sought esthetic rehabilitation for a diastema between the central incisors, mismatched tooth shapes, and overall dental disharmony.
3D-printed reduction guide with hinge and window. Design for conservative veneer preparations.
A 36-year-old woman sought improvement of her smile. Existing ceramic veneers from the maxillary right to left canine showed staining and crack lines, with mild gingival recession around the restored teeth.
PERCUTANEOUS MECHANICAL THROMBECTOMY: A NEW TOOL IN THE TREATMENT OF ACUTE MESENTERIC ISCHEMIA.
An 82-year-old woman with atrioventricular block, hypertension, and dementia presented with acute abdominal pain that had begun three days earlier.
Behind the Sella: A Rare Case of Pituicytoma Mimicking a Pituitary Adenoma.
A 48-year-old man presented with symptoms of hypogonadism, headaches, and visual field defects. Testing showed hypogonadotropic hypogonadism and hyperprolactinemia, while MRI revealed a sellar-suprasellar mass initially…
Very Young ST-Segment Elevation Myocardial Infarction Associated With Chronic Nonmedical Anabolic-Androgenic Steroid Use: A Case Report.
A 29-year-old man with no known medical history and approximately two years of nonmedical testosterone and stanozolol use presented with acute chest pain and anterior ST-segment elevation myocardial infarction.
Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome.
A family was evaluated after a fetus at 15 weeks’ gestation and his symptomatic older brother were found to have duplications involving Xq28.
Optimization of Anticoagulation Strategy During Cardiopulmonary Bypass in Neonates with Congenital Heart Disease: A Randomized Controlled Trial.
Neonatal hemostatic immaturity complicates anticoagulation during cardiopulmonary bypass (CPB). Current practice largely follows the strategy of 400 U/kg from adult protocols, as neonatal-specific guidelines and…
Giant Cystic Lymphangioma of the Transverse Mesocolon in a 7-Year-Old Child: A Case Report.
A 7-year-old girl presented with several weeks of vomiting, abdominal pain and progressive distension. Examination found a large abdominal mass; laboratory results were unremarkable.
Inside a Programmer's Brain: Dissociating Code and Language Comprehension Networks Using a Novel fMRI-ESM Protocol.
A professional software engineer with an IDH-mutant astrocytoma in the left middle frontal gyrus underwent preoperative fMRI and intraoperative electrical stimulation mapping (ESM) to assess both language and code…
Low-Volume Superior Trunk and Superficial Cervical Plexus Block With Sedation as the Sole Regional Anesthetic for Proximal Humerus Fracture Fixation in a Patient With Alzheimer Disease.
A 68-year-old woman with Alzheimer disease underwent fixation of a closed right proximal humerus fracture through a deltopectoral approach.
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