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671 articles
May 202624
Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder.
Two siblings presented with neurodevelopmental delay and multiple congenital anomalies, including esophageal atresia and developmental dysplasia of the hip.
Severe Pneumocystis jirovecii Pneumonia as the Sentinel Presentation of BENTA Disease: Case Report of a 3-Month-old Infant.
A 3-month-old infant with a history of acute respiratory distress syndrome and recurrent infections that did not respond to antibiotics had persistent interstitial lung opacities.
Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II.
This study evaluated the impact of shortening infusion durations on the safety and efficacy of enzyme replacement therapy (ERT) with pabinafusp alfa in 27 Japanese patients with mucopolysaccharidosis II (MPS II).
Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.
A 15-year-old male with Myhre syndrome, caused by a SMAD4 p.Ile500Val variant, presented with rapidly progressive biliary cirrhosis following an infectious episode.
Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS) Associated With c.235C>T (p.R79C): Expanding Phenotype.
A 6-year-old girl with N-α-acetyltransferase 10 related syndrome presented with a new abnormality of gait resembling paroxysmal kinesigenic dyskinesia after previously normal neurological evaluations.
De Novo 2.2 Mb 19q13.42-q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model.
A patient presented with a de novo 2.2 Mb deletion on chromosome 19q13.42-q13.43, which includes the U2AF2 gene. The clinical features included intellectual disability, epilepsy, hypoplasia of the corpus callosum…
Congenital brain malformations associated with COL4A1 gene mutations: A case series.
This case series describes three patients with prenatal presentation and pathogenic COL4A1 mutations. COL4A1 encodes a type IV collagen chain, and mutations can affect basement membranes in several organs.
Unusual Head and Neck Vascular Patterns in Two Patients With Cornelia de Lange Syndrome: A Case-Based Insight Into Cerebrovascular Anomalies.
Two pediatric patients with Cornelia de Lange Syndrome (CdLS) presented with unique cerebrovascular malformations, including a right aortic arch and an isolated common trunk for the left vertebral and subclavian…
Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.
This report details two Japanese patients, an 8-year-old girl and a 19-year-old boy, diagnosed with Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Faces (IDDSADF).
A novel hemizygous missense variant in the BEND2 gene is associated with nonobstructive azoospermia.
Nonobstructive azoospermia (NOA), the most severe form of male infertility, frequently arises from genetic defects that disrupt spermatogenesis.
The first neonatal case of Juvenile Paget disease with homozygous deletion in the TNFRSF11B gene.
A male newborn, born at 31 1/7 weeks gestation, presented with respiratory distress and varus deformity of the lower extremities. Radiographic findings revealed diffuse osteosclerosis in long bones.
Compliance and Genetic Variability Are Determinants of the Success of l-Arginine/l-Citrulline Supplementation in High Altitude-A Pilot Study.
This pilot randomised controlled trial tested whether l-arginine/l-citrulline (A/C) supplementation limited the rise in pulmonary arterial pressure (PAP) during chronic intermittent hypoxia.
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.
A teenage female presented with syndromic intellectual disability and neuromuscular abnormalities. Multi-omics analysis, including genomics, transcriptomics, and proteomics, was employed alongside muscle biopsy.
Dual pathogenic variants in ADAMTS13 and CFHR1/CFHR3 deletion: divergent thrombotic microangiopathy phenotypes in siblings.
Two male siblings presented with hereditary anemia and thrombocytopenia, along with unexplained hepatosplenomegaly. The elder sibling developed acute thrombotic microangiopathy (TMA) with severe complications, while the…
Disclosing mental health in medical education: A global qualitative meta-synthesis.
This international qualitative meta-synthesis examined how medical students experience and navigate disclosure of mental health disorders.
A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares.
A male infant presented at 12 days of age with severe cholestasis and hepatomegaly, later developing hypophosphatemic rickets and proximal renal tubular dysfunction.
Potential Pharmacogenomics (PGx), Human Leukocyte Antigen (HLA) Antiviral to Cephalosporin Crossover Reaction.
A 43-year-old man with type 2 diabetes and HLA-B*57:01 positivity received intravenous cefepime for pubic symphysis osteomyelitis associated with Pseudomonas.
Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.
A 38-year-old man and his 40-year-old sister, both of Romani ancestry, had CMT4D associated with a homozygous NDRG1 p.(Arg148*) variant.
The clinical and genetic profiles, management, and treatment outcomes of familial exudative vitreoretinopathy.
This meta-analysis of 99 studies involving 463 patients with familial exudative vitreoretinopathy highlights the importance of early screening, as nearly half of patients are asymptomatic at diagnosis.
Low Weight Loss Response to Incretin Analogs: A Systematic Review.
This systematic review examined factors associated with low or absent weight loss among people treated with GLP-1 and GIP analogs for type 2 diabetes or obesity.
Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.
A 63-year-old woman with Gabriele-de Vries syndrome presented with mild intellectual disability, bilateral cataracts, and early-onset coronary artery disease.
HLA-B alleles confer susceptibility to sulfasalazine-induced severe cutaneous adverse reactions.
This meta-analysis investigated the genetic predisposition to sulfasalazine-induced severe cutaneous adverse reactions (SCARs) in Asian populations.
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.
Two young adults from consanguineous parents presented with a homozygous p.(Arg215Ter) variant in XRCC2, exhibiting features of Fanconi Anemia (FA) such as mild intellectual disability, microcephaly, distinctive facial…
Renal Fanconi syndrome and vitamin D deficiency: chicken or egg?
Two pediatric cases of renal Fanconi syndrome (RFS) were identified, both presenting with clinical rickets unresponsive to cholecalciferol supplementation.
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