Trending archive
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91 articles
November 202624
Acute Ethylene Glycol Poisoning Following Accidental Mineral Oil Ingestion With Severe Metabolic Acidosis, Acute Kidney Injury, Respiratory Failure, and Delayed Neurological Sequelae: A Case Report.
A 57-year-old man became dizzy, vomited, and developed altered consciousness progressing to coma after accidentally ingesting mineral oil containing ethylene glycol.
Intractable Nausea and Vomiting: A Key Feature of Neuromyelitis Optica Spectrum Disorder.
A 22-year-old woman had five weeks of intractable nausea, vomiting, and hiccups. Delayed gastric emptying led to an initial diagnosis of gastroparesis, but symptoms persisted despite antiemetic and prokinetic therapy.
Molecular Diagnostics and Clinicopathologic Spectrum of Kinase Fusion-Positive Spindle Cell Neoplasms of the Oral and Maxillofacial Region: A Systematic Review and Pooled Patient-Level Analysis.
This systematic review and pooled patient-level analysis characterized kinase fusion-positive spindle cell neoplasms of the oral and maxillofacial region using published reports.
Association of HTR3A and COMT polymorphisms with electroacupuncture response for chemotherapy-induced nausea and vomiting in breast cancer: a secondary analysis of a randomized controlled trial.
This exploratory, treatment-stratified secondary analysis of a randomized controlled trial examined whether three HTR3A and COMT polymorphisms were associated with complete protection (CP) against chemotherapy-induced…
Allan-Herndon-Dudley syndrome associated with SLC16A2 c.1384G>A (p.Gly462Arg): A family case report with retrospective molecular diagnosis in a deceased sibling.
A boy evaluated at 4.3 years had profound developmental delay, abnormal tone, dystonia, muscle atrophy, contractures, and bilateral cryptorchidism.
Concurrent prenatal diagnosis of hereditary neuropathy with liability to pressure palsies and congenital pulmonary airway malformation: A case report.
At 24 weeks’ gestation, ultrasound in a 38-year-old woman showed a right fetal thoracic lesion with blood supply from the right pulmonary artery, consistent with congenital pulmonary airway malformation (CPAM).
An encephalitis-like syndrome in an adult with methylmalonic acidemia and hyperhomocysteinemia: A case report.
A 56-year-old man developed fever and slowed responses, followed by disorganized speech, visual hallucinations, impaired consciousness, and pyramidal signs.
The relationship between sirtuin1 gene polymorphism and coronary heart disease: Systematic review and meta-analysis.
This systematic review and meta-analysis examined associations between four SIRT1 gene polymorphisms and coronary heart disease (CHD), drawing on 9 articles with 1,839 cases and 1,937 controls.
Successful rechallenge with almonertinib and corticosteroids after gefitinib-induced interstitial lung disease: A case report and literature review.
A 53-year-old never-smoking woman with stage IV, EGFR L858R-mutant lung adenocarcinoma developed progressive dyspnea and hypoxemia after two months of gefitinib, despite an initial tumor response.
Clinical and genetic characterization of three Iranian patients carrying the CLCN1 p.Pro452Leu variant.
Three Iranian families were evaluated for clinical and electrical myotonia, characterized by delayed skeletal muscle relaxation after contraction.
Identification of AKAP6 as a candidate gene for charcot-marie-tooth disease: expanding the clinical and molecular spectrum.
A family was evaluated for axonal sensorimotor polyneuropathy. Whole-exome sequencing, with copy-number variant detection and runs-of-homozygosity analysis, identified a homozygous nonsense variant in AKAP6, c.4774 C >…
A case report of ultra-rare SMARCD2 deficiency and review of the literature.
The report describes a patient with congenital neutropenia due to specific granule deficiency type 2, a syndromic autosomal recessive disorder associated with loss-of-function variants in SMARCD2.
De novo SETD5 missense variants in individuals with MRD23 cluster within the protein's SET domain.
SETD5 heterozygous loss-of-function (LoF) variants and 3p25.3 deletions containing the SETD5 gene cause intellectual developmental disorder, autosomal dominant 23 (MRD23).
Prevalence of generalized joint hypermobility, hypermobility spectrum disorders and Ehlers-Danlos syndrome: systematic review and meta-analysis.
This systematic review and meta-analysis assessed the prevalence of generalized joint hypermobility (GJH), hypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS).
A phase 2 study of tipifarnib in children and young adults with tumors harboring HRAS genomic alterations: NCI-COG Pediatric MATCH trial (APEC1621M).
This phase 2 NCI-COG Pediatric MATCH study evaluated intermittent oral tipifarnib in children and young adults with relapsed or refractory solid tumors carrying specified HRAS mutations.
Genetic Counseling and Shared Decision-Making for a Male Carrier of a Balanced Reciprocal Translocation Facing Financial Barriers to Preimplantation Genetic Testing for Structural Rearrangements: A Case Study.
A man in his early thirties with severe oligozoospermia was found to carry a balanced reciprocal translocation. Genetic counseling covered reproductive risks, PGT-SR and prenatal testing options, expected outcomes, and…
Spinocerebellar Ataxia Type 6 Concurrent with Normal-Pressure Hydrocephalus: A Case Report.
A 73-year-old man with two years of progressive gait disturbance had gaze-evoked nystagmus, dysarthria, limb ataxia, a broad-based shuffling gait, and urinary urgency.
Late-onset Niemann-Pick C disease in a patient with spastic ataxia and hyperkinetic involuntary movements: a case report.
A woman with late-onset Niemann-Pick disease type C1 presented from age 50 with progressive postural instability, falls, spastic ataxia, and prominent upper-limb hyperkinetic movements.
Severe Atherogenic Dyslipidemia in Ataxia-Telangiectasia Despite Cachexia: Mechanistic Insights into Mitochondrial Dysfunction.
A 25-year-old woman with genetically confirmed ataxia-telangiectasia and extreme underweight (body mass index 12.5 kg/m²) developed severe mixed atherogenic dyslipidemia despite modest dietary fat intake and no…
Klippel-Trenaunay Syndrome Prenatal Diagnosis: Two Case Reports and a Review of the Literature.
A report of two fetuses with suspected Klippel-Trenaunay syndrome (KTS) describes prenatal ultrasound findings of marked right-thigh soft-tissue swelling and thickening, with tortuous, dilated arterial and venous…
Homozygous SCA8 presenting as severe axonal neuropathy without overt cerebellar involvement.
A 35-year-old man with progressive limb weakness beginning at age 15 had severe proximal muscle atrophy and absent deep tendon reflexes, without overt cerebellar signs.
"Fatal venous thromboembolism and divergent phenotypes in DOCK8 deficiency: a three-sibling case series".
Three siblings with genetically confirmed DOCK8 deficiency had early-onset atopic dermatitis, recurrent respiratory infections, and failure to thrive. All developed bronchiectasis and severe viral infections.
KARS1-Related Infantile-Onset Progressive Leukoencephalopathy With or Without Deafness: A Novel Variant and Phenotypic Expansion.
A two-year-old Iranian boy born to non-consanguineous parents presented with developmental delay, seizures, and sensorineural hearing loss.
Clinical Reasoning: An 18-Year-Old Woman With Episodic Stiffness, Exercise Intolerance, and Weakness: Decoding a Neuromuscular Mystery.
An 18-year-old woman had longstanding episodic muscle stiffness, cold sensitivity, exercise intolerance, and stable proximal weakness.
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