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512 articles
July 202619
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.
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…
A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.
A patient presented with midface hypoplasia, partial hearing impairment, nephrocalcinosis, and elliptocytosis, consistent with the multisystem disorder MFHIEN.
Germline pathogenic PTEN variant in a patient with a Kaposiform haemangioendothelioma.
A 28-year-old female presented with Kaposiform haemangioendothelioma (KHE) and was found to have a germline pathogenic PTEN variant. Initial detection in tumor tissue was confirmed in saliva.
Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial.
This study reports the long-term safety and efficacy of risdiplam in children with type 1 spinal muscular atrophy over a 3-year open-label extension of the phase 2 FIREFISH trial.
Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.
A 3-month-old male presented with severe neonatal cholestasis and elevated tyrosine levels detected in newborn screening. Despite transient normalization of tyrosine, recurrent hyper-tyrosinemia and progressive…
June 20265
Novel RHOXF1 mutation causes male infertility by inducing severe oligoasthenozoospermia.
Oligoasthenozoospermia (OAT) is a common cause of male infertility, with most OAT patients resulting from genetic defects. In this study, we recruited a severe OAT patient and his family for genetic analysis…
Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy.
Biallelic pathogenic variants in the MYPN gene are a known cause of congenital myopathy, and exonic variants that activate cryptic splice sites have not been previously reported.
Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.
This phase 3, multicenter, double-blind, placebo-controlled trial evaluated the efficacy of oral infigratinib in children aged 3 to 17 with achondroplasia.
Exploring the genetic correlation between inflammatory bowel disease and psychiatric disorders: insights from genome-wide association studies.
This meta-analysis examined the genetic correlations between inflammatory bowel disease (IBD) and eight psychiatric disorders using data from 486,601 individuals.
MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.
A 73-year-old woman had lifelong gastrointestinal and urinary dysfunction, including chronic constipation, neurogenic bladder, recurrent urinary tract infections, gastroparesis, and pelvic organ prolapse.
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