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671 articles
July 202624
Pontine autosomal dominant microangiopathy with leukoencephalopathy in a Hispanic man without a family history.
A 49-year-old Hispanic man presented with recurrent ischemic events and multiple cranial nerve palsies, beginning at age 35.
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.
A female patient with a heterozygous de novo deletion affecting the SET gene in the 9q34.11 region presented with atypical Rett syndrome features, including speech delay and facial dysmorphism.
Prolonged mpox infection and fatal outcome in an HIV patient treated with tecovirimat.
A 59-day mpox infection was observed in a highly immunocompromised HIV-positive patient. The patient exhibited progressive viral diversification across lesions from various anatomical sites, culminating in a fatal…
Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.
The CaPP3 trial evaluated the efficacy of lower doses of aspirin (100 mg and 300 mg daily) compared to 600 mg daily in preventing Lynch syndrome cancers among 1866 participants with Lynch syndrome.
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder.
A patient with a novel de novo heterozygous missense variant in CLTC underwent brain MRI, which showed pontine hypoplasia and cerebellar atrophy.
FKTN Compound Heterozygosity Associated With Walker-Warburg Spectrum Features and Severe Cochlear Hypoplasia With Preserved Basal Turn.
A female neonate presented with marked hypotonia and early respiratory compromise. Trio sequencing identified compound heterozygous FKTN variants: a 3-kb founder insertion and an early nonsense variant.
Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.
Three individuals from two unrelated Indian families presented with Thrombocytopenia-Absent Radius (TAR) syndrome, characterized by absent radius in the forearms and low platelet counts.
Baseline Computed Tomography Coronary Angiography and Polygenic Risk Profiles in Adults With Type 2 Diabetes: A Cross-Sectional Analysis From the VOLTAIRE Study.
This cross-sectional analysis from the VOLTAIRE study evaluated cardiovascular risk profiles in 126 adults with type 2 diabetes using computed tomography coronary angiography and polygenic risk scores.
From Self-Mutilation to Genetic Diagnosis: A Case Report of Hereditary Sensory and Autonomic Neuropathy Type VIII Illuminating the Role of a Rare PRDM12 Mutation.
A 10-month-old female presented with Hereditary Sensory and Autonomic Neuropathy Type VIII, characterized by congenital insensitivity to pain, self-mutilation, and autonomic dysfunction.
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.
This report discusses four new cases of Kosaki Overgrowth Syndrome and Penttinen Syndrome treated with tyrosine kinase inhibitors (TKIs).
Early-onset lipoprotein glomerulopathy in a 23-month-old boy with homozygous APOE Kyoto variant.
A 23-month-old boy presented with nephrotic syndrome and severe anaemia. A family history of kidney disease, parental consanguinity and enlarged echogenic kidneys on ultrasound prompted early renal biopsy, which showed…
Fulminant heart failure in a patient with MYPN-associated cardiomyopathy: A case report.
A 48-year-old African American woman with MYPN-associated nonischemic cardiomyopathy presented with acute ischemic stroke after missing anticoagulation therapy.
Renal AA amyloidosis associated with a TRAPS-like autoinflammatory phenotype and TNFRSF1A R92Q variant in adulthood.
A 48-year-old male with a history of vitiligo presented with nephrotic syndrome, leading to a diagnosis of AA amyloidosis via renal biopsy.
Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man.
A 75-year-old man presented to the emergency department with acute confusion and vomiting, which progressed to coma. Initial tests showed unexplained hyperammonemia, peaking at 487 μmol/L.
Phase II Trial of Nivolumab in Advanced Solid Tumors Based on Genomic Profiling: BELIEVE Trial (NCCH1901) Subcohort.
This Phase II trial evaluated the efficacy and safety of nivolumab in patients with advanced solid tumors based on comprehensive genomic profiling (CGP) results.
Alpelisib for TEK- and PIK3CA-Related Venous Malformations: A Systematic Review.
This systematic review examined alpelisib treatment in 47 patients with molecularly diagnosed TEK- or PIK3CA-related venous malformations.
Uptake of breast cancer risk-management strategies among unaffected BRCA 1/2 carriers: a systematic review of international evidence.
This systematic review examined the uptake of breast cancer risk management strategies among unaffected BRCA1/2 carriers, analyzing 32 studies published from 2002 to 2025.
Genotype-phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy.
This systematic review analyzed 100 cases of pathogenic ALG13 variants, focusing on genotype-phenotype correlations in developmental epileptic encephalopathy 36 (DEE36).
Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta-Analysis.
This systematic review and meta-analysis evaluated the prevalence of breastfeeding in infants with Down syndrome, analyzing data from 26 studies involving 3463 infants.
Efficacy, Safety, and Treatment-Delivery Feasibility of Autologous Gene Therapy for Sickle Cell Disease: A Systematic Review With Descriptive Synthesis of Clinical Trials.
This systematic review with descriptive synthesis assessed efficacy, safety, and delivery feasibility of autologous gene therapy for sickle cell disease across nine interventional clinical programs and associated…
PTEN negative adenocarcinoma developed in a gastric hamartoma polyp of a Cowden syndrome patient.
A man in his 60s with Cowden syndrome, diagnosed after Lhermitte-Duclos disease, medullary thyroid carcinoma and gastrointestinal polyposis, underwent regular endoscopic surveillance.
Atypical renal phenotype with tubular proteinuria and hypercalciuria in siblings with nail-patella syndrome: evidence for a dual genetic diagnosis.
Three brothers had the skeletal features of nail-patella syndrome and carried the same maternally inherited heterozygous LMX1B mutation.
Screening for neurofibromatosis type 1-related optic pathway gliomas: a systematic review.
This systematic review examined the prevalence and clinical spectrum of optic pathway gliomas (OPGs) in patients with neurofibromatosis type 1 (NF1).
Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta-analysis.
This retrospective cohort study evaluated the diagnostic yield of prenatal exome sequencing (ES) compared to chromosomal microarray analysis (CMA) in 219 fetuses with central nervous system (CNS) anomalies detected via…
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