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671 articles
September 202624
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…
A novel homozygous chromosomal deletion encompassing the ACTL9 gene is associated with cIVF polyspermy and male infertility.
An infertile man with polyspermy during conventional in vitro fertilization (cIVF) and nearly total fertilization failure after intracytoplasmic sperm injection (ICSI) was found to have a homozygous chromosomal…
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…
Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary.
The increasing integration of genomic medicine into routine medical care brings to light issues of complexity and uncertainty in the interpretation of genetic variation.We describe a fictional case study based on our…
Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia.
A proband with a laterality-defect spectrum and complex congenital heart disease had no extracardiac organ malposition and no evidence of primary ciliary dyskinesia.
5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.
PURA heterozygous microdeletions and pathogenic variants have been previously associated with neurodevelopmental disorders (NDDs), grouped into PURA-NDDs, characterized by severe neonatal hypotonia, feeding…
Male breast cancer in Arab populations: a systematic review of molecular, genetic, and clinicopathologic characteristics.
This systematic review analyzed 54 studies involving 1,534 male breast cancer (MBC) patients from Arab countries, revealing that invasive ductal carcinoma is the most common subtype (92.6%).
Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology.
A male patient with ENPP1 deficiency underwent a comprehensive ophthalmic assessment over ten years. Despite systemic ectopic calcification, his visual acuity showed only slight decline, and multimodal imaging revealed…
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