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671 articles
September 202624
Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.
A 79-year-old woman had lifelong peripheral edema without an established cause. Evaluation excluded common explanations, including heart failure, renal dysfunction, and venous thrombosis.
A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.
A 5-year-old boy had developmental delay and intellectual disability with feeding difficulties, alongside hypoglycemia, recurrent fever, and immunodeficiency.
A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.
This report details two siblings with compound heterozygous mutations in the FLAD1 gene, resulting in adrenal insufficiency, a previously unreported association.
Somatostatin Receptor-Expressing Hibernoma Mimicking Malignancy on SSTR-PET in MEN1: A Diagnostic Pitfall.
A 21-year-old woman with MEN1 underwent serial somatostatin receptor (SSTR) PET imaging after curative treatment of pancreatic neoplasia, which was in complete remission.
Clinical and immunological characterization of a child with a homozygous TBK1 kinase-domain truncation.
TBK1 is a serine-tyrosine kinase protein that transmits signals from pattern recognition receptors to the NF-κB pathway leading to production of Type 1 Interferons.
Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review.
Prion disease and Alzheimer disease (AD) are common causes of rapidly progressive dementia (RPD). Although most patients with prion disease are distinguished by MRI and CSF findings, selected cases mimic rapidly…
Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.
A teenage girl presented with clinical and radiological features consistent with trichorhinophalangeal syndrome type I, characterized by short, deformed fingers and cone-shaped epiphyses.
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.
Two individuals with heterozygous de novo nonsense variants in the penultimate or last exon of NUSAP1 presented with early-onset refractory epilepsy, global developmental delay, congenital microcephaly, and a…
Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
A 40-year-old woman, gravida 2 para 1, presented with a fetus diagnosed with Meckel-Gruber syndrome, identified through prenatal ultrasound and MRI.
Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series.
This case series presents five patients with spinal muscular atrophy (SMA) who experienced significant delays in diagnosis.
Downbeat nystagmus without ataxia as an early manifestation of spinocerebellar ataxia, autosomal recessive type 10 (SCAR10): a case report.
A 23-year-old female with a history of migraine presented with a four-month history of progressive vestibular dizziness. Neurological examination revealed downbeat nystagmus without ataxia.
C12ORF54 mediates lipid droplet delivery to lysosomes with mutation causing childhood-onset metabolic dysfunction-associated steatotic liver disease.
A 2-year-old boy presented with metabolic dysfunction-associated steatotic liver disease (MASLD) and was found to have a homozygous missense variant in the C12ORF54 gene.
Cognitive impairment as a manifestation of SPG7: case report.
A 42-year-old man with a 10-year history of dysarthria and 5 years of gait difficulties presented with cognitive symptoms over the last 3 years.
Mycobacterial infections and recurrent osteomyelitis in a patient with an autosomal dominant mutation in IFN-gamma receptor 1 with overexpression of the receptor.
A Mexican man developed severe BCGitis in early childhood, followed by recurrent disseminated mycobacterial infections and vertebral osteomyelitis involving several species.
Case report: Tirzepatide-responsive refractory diabetes mellitus in an adult female with prader-willi syndrome.
A woman with Prader-Willi syndrome (PWS) presented with poorly controlled diabetes mellitus, characterized by severe insulin resistance and uncontrollable hyperphagia leading to morbid obesity.
A systematic review and network meta-analysis of single nucleotide polymorphisms associated with oral submucous fibrosis risk.
This systematic review and network meta-analysis evaluated the association between single nucleotide polymorphisms (SNPs) and the risk of oral submucous fibrosis (OSF) in a population of 2545 cases and 3772 controls.
Successful pregnancy after in vitro fertilization-embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency and a double uterus: Case report.
A 29-year-old woman with a history of 7 years of infertility was diagnosed with cytochrome P450 oxidoreductase deficiency and uterus didelphys.
Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.
A 41-year-old man of African descent presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities.
Non-convulsive status epilepticus revealing acute deterioration in AARS2 mutation-associated progressive leukoencephalopathy.
A 41-year-old woman with AARS2 mutation-associated leukoencephalopathy presented with rapid cognitive decline and altered mental status.
Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.
A 61-year-old man with a long-standing misdiagnosis of cerebral palsy presented with neurodevelopmental disorder, mild ataxia, and generalized dystonia.
Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.
A 42-year-old male with nonobstructive hypertrophic cardiomyopathy (HCM) and paroxysmal atrial arrhythmias underwent whole-exome sequencing, revealing a novel homozygous TTN splice-site variant.
Clinical and molecular spectrum of VEXAS with multiple UBA1 variants: case study and literature review.
A patient with VEXAS syndrome presented with neck swelling, headache, elevated inflammatory markers, leukopenia, macrocytic anemia, and thrombocytopenia. Bone marrow analysis showed no dysplasia or increased blasts.
Systematic review of machine learning approaches for predicting sickle cell crisis and mortality risk at the climate-health nexus.
This systematic review analyzed 34 studies on machine learning models predicting sickle cell anemia (SCA) crises and mortality, focusing on climate-related factors.
Germline multigene panel testing for colorectal cancer: a systematic review and meta-analysis.
This systematic review and random-effects meta-analysis assessed germline multigene panel testing in unselected patients with colorectal cancer, pooling evidence from 21 eligible studies.
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