Results 201 to 210 of about 5,318,393 (316)

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat   +2 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn   +4 more
wiley   +1 more source

Wearable Sensors for Sleep Monitoring in Free-Living Environments: A Scoping Review on Parkinson's Disease. [PDF]

open access: yesBiosensors (Basel)
Matos J   +6 more
europepmc   +1 more source

Impedance‐Controlled Multipoint Radiofrequency Ablation for Chronic Rhinitis: A Randomized Controlled Trial

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The purpose of this randomized controlled trial (RCT) was to demonstrate that posterior nasal nerve ablation treatment with the NEUROMARK System is superior to a sham control procedure in patients with chronic rhinitis. Methods In this prospective, multicenter, single‐blinded, superiority RCT, 132 participants were randomized 2:1 to
Masayoshi Takashima   +5 more
wiley   +1 more source

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao   +9 more
wiley   +1 more source

An ultra‐processed food‐based cafeteria diet induces obesity, metabolic dysfunction, and tissue‐specific gene dysregulation in C57BL/6 mice

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This schematic figure illustrates the experimental design and key findings of the study. Forty male C57BL/6 mice were assigned to either a standard diet control group or a cafeteria diet (CAFD) group for 16 weeks. CAFD induces obesity, insulin resistance (HOMA‐IR), hepatic steatosis, and dysregulation of a number of genes in visceral and subcutaneous ...
Guilherme Coutinho Kullmann Duarte   +9 more
wiley   +1 more source

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