Trending archive
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512 articles
September 202624
Type A Insulin Resistance Syndrome Due to a Pathogenic Variant in the INSR Gene.
A woman in her 40s, initially diagnosed with type 1 diabetes, presented with a 30-year history of fluctuating insulin sensitivity and later developed insulin resistance, despite being non-obese.
Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.
OPTIMA was a multicentre, randomised, double-blind, placebo-controlled phase 3 trial assessing monthly intravenous garetosmab in adults with fibrodysplasia ossificans progressiva.
Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.
An 8-month-old female infant presented with multisystemic complications, including congenital heart defects, limb anomalies, macrocephaly, and recurrent pulmonary infections.
Beyond β-amyloid: transthyretin cerebral amyloid angiopathy.
A 44-year-old man presented with recurrent upper-limb and perioral sensory symptoms, later identified as transient focal neurological episodes.
Biomarker-Guided Diagnosis of Riboflavin Transporter Deficiency Presenting as Seronegative Myasthenia Gravis: A Short Report from a Consanguineous Family.
A 3.5-year-old girl born to consanguineous parents developed bilateral ptosis, followed by dysphagia, dysphonia, facial diplegia, stridor, and respiratory compromise.
The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.
This systematic review assessed the psychosocial impact of whole genome sequencing (WGS) and whole exome sequencing (WES) results in adults, analyzing 45 studies.
Pure Red Cell Aplasia Following Neoadjuvant Docetaxel/Carboplatin/Trastuzumab (TCbH) in a 45‑Year‑Old Woman With Breast Cancer Successfully Treated With Cyclosporine.
A 45-year-old woman with HER2-positive breast cancer developed pure red cell aplasia (PRCA) after neoadjuvant treatment with docetaxel/carboplatin/trastuzumab.
ATM mutations in myelodysplastic neoplasms, acute myeloid leukemia, and myeloproliferative neoplasms: a systematic review.
This systematic review evaluated the impact of ATM mutations in myelodysplastic neoplasms (MDS), acute myeloid leukemia (AML), and myeloproliferative neoplasms (MPN).
Pancreatic arteriovenous malformations as a manifestation of hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease): a systematic review.
This systematic review examined pancreatic arteriovenous malformations (AVMs) in patients with hereditary hemorrhagic telangiectasia (HHT), analyzing 19 cases from 13 studies.
Critical Kennedy's disease with Guillain-Barré syndrome and respiratory failure: A case report.
A 61-year-old man with a 35-year history of Kennedy disease presented with acute respiratory failure, dysphagia, and progressive dyspnea.
A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia: A case report.
A 35-year-old man presented with a 5-year history of progressive cognitive decline, parkinsonism, and cerebellar ataxia. Neurological examination revealed significant motor and cognitive impairments, with imaging…
Mild Phenotype in Functionally Validated STAT1 Gain-of-Function Disease Due to a Novel DNA-Binding Variant.
A case report describes four patients with STAT1 gain-of-function disease, focusing on three related individuals with a novel p.Leu400Pro variant.
Etuvetidigene Autotemcel for the Treatment of Wiskott-Aldrich Syndrome.
This multicenter clinical trial evaluated the safety and efficacy of etuvetidigene autotemcel (etu-cel) in patients with Wiskott-Aldrich syndrome, integrating data from two studies and an expanded-access program.
Adulthood interstitial lung disease due to variants in surfactant related genes: A systematic review.
This systematic review examined the clinical features of interstitial lung disease/pulmonary fibrosis (ILD/PF) in adults with surfactant-related gene (SRG) variants.
Corneal ectasia in ectodermal dysplasia: Novel Tumour Protein 63-related phenotype in Rapp-Hodgkin syndrome.
A man in his 20s with genetically confirmed Rapp-Hodgkin syndrome presented with progressive visual decline in the left eye over 12 months.
A rare ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosis.
A 39-year-old man presented with progressive ataxia, chorea, and telangiectasias, alongside two siblings with similar symptoms. Genetic testing revealed compound heterozygous variants in the ATM gene.
Clinical and Molecular Delineation of KAT6B -Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.
KAT6B-related disorders (KRDs) comprise a spectrum of developmental disorders ranging from Genitopatellar syndrome (GPS) to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), with increasing recognition of…
One Tracer, Whole Syndrome: CAIX-Targeted PET Unmasks the Multisystem Tumor Landscape of Von Hippel-Lindau Disease.
A 50-year-old man with von Hippel–Lindau disease underwent multimodal imaging to assess residual central nervous system disease.
Case Report: Sustained Cognitive Improvement and Reversible Brain Hypoperfusion in the Context of Posterior Fossa Arachnoid Cyst Shunting Procedure in KBG Syndrome.
A patient with KBG syndrome and a posterior fossa arachnoid cyst underwent shunting due to progressive cyst enlargement. Preoperative assessments indicated severe autism spectrum disorder and cognitive impairments.
Fulminant Secondary HLH Following EBV Reactivation in an Adult With Trisomy 21 After Teplizumab Treatment for Stage 2 Type 1 Diabetes.
A 44-year-old man with trisomy 21 and stage 2 type 1 diabetes developed respiratory, hepatic, and renal failure six days after completing a 14-day course of teplizumab.
FAN1 mutation and karyomegalic nephropathy in chronic kidney disease.
A middle-aged female with chronic kidney disease presented for renal biopsy, which showed tubular vacuolization, patchy acute injury, and karyomegaly with bizarre nuclei.
Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation.
A man in his mid-60s with Fragile X-associated tremor/ataxia syndrome (FXTAS) and 88 CGG repeats in FMR1 developed autoimmune hepatitis, confirmed by biopsy, leading to liver transplantation.
APOE ε4 variant interpretation and protein numbering discrepancy: a case report.
A 57-year-old man with early-onset Alzheimer's disease underwent next-generation sequencing, revealing a homozygous APOE variant annotated as p.Cys130Arg.
Low-Grade Salivary Myoepithelial Carcinoma of the Upper Lip Harboring a Novel CARMN/miR143HG::PLAG1 Fusion.
A 48-year-old man presented with a 6-month history of a slow-growing, asymptomatic nodule in the left upper lip. An excisional biopsy revealed a low-grade myoepithelial carcinoma characterized by a multilobulated growth…
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