Results 231 to 240 of about 123,454 (294)

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

American 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, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Transforming RNA Degradation into Accurate RNA Detection: RNase I–Assisted Rolling Circle Amplification for Clinical Samples

Angewandte Chemie, EarlyView.
Here, we transform this otherwise destructive enzymatic activity into a powerful diagnostic advantage through an RNase I–assisted rolling circle amplification (RI‐RCA) strategy. By integrating controlled RNase I–mediated RNA digestion with circular DNA templates, this approach enables direct and highly sensitive detection of target RNA sequences. Using
Amal Mathai, Cheng‐Yu Lee, Zijie Zhang, Jimmy Gu, John D. Brennan, Yingfu Li   +5 more
wiley   +2 more sources

Procedural case: Ultrasound Case: Syncope in PE. [PDF]

J Educ Teach Emerg Med
Wallace N, Melendez A, Beattie L, Chen T, Fernandez D, Vempati A, Roszczynialski K, Cohen S, Stapleton S, Moadel T.   +9 more
europepmc   +1 more source

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

International 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, Randall A. Ow, Richard D. Thrasher, Ellen M. O'Malley, William R. Blythe, Omar G. Ahmed   +5 more
wiley   +1 more source

The Association Between Unrecognized Hypovolemia and Head-Up Tilt Testing Positivity. [PDF]

JACC Adv
Mian OS, Newman DM, Shrestha Y, de Souza RJ, Singh SM.   +4 more
europepmc   +1 more source

Syncope in Elderly People: A Threatening Presentation of Pulmonary Embolism: A Case Report

, 2015
Franca Bilora, Lucia Sarolo, Fabio Pomerri, Paolo Pr, oni   +4 more
openalex   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Fever, Syncope, and the Brugada Dilemma: Navigating the Complexities of ICD Decision-Making in an Atypical Presentation. [PDF]

Case Rep Cardiol
Devkota L, Hoffer-Hawlik M, Yang F, Jung AS.   +3 more
europepmc   +1 more source

Topographical Variation of Iron‐Rimmed Lesions in the Multiple Sclerosis Brain and Spinal Cord: A Neuropathological Study

Annals of Neurology, EarlyView.
Paramagnetic‐rim lesions are a novel diagnostic marker in multiple sclerosis (MS) and are associated with poor prognosis due to their link with chronic inflammation and disease progression. Analyzing 46 postmortem MS cases, researchers found no iron rims in 67 white matter and 85 grey matter spinal cord lesions, despite most being active.
Marco Pisa, Andrew Lockhart, Thomas Angell, Aimee Avery, Zaenab Dhari, Mary Bailey, Simon Hametner, Hal Drakesmith, Monika Hofer, Clara Limbaeck, Gabriele C DeLuca   +10 more
wiley   +1 more source

Potential Impact of Using Canadian Syncope Risk Score on Emergency Department Hospitalizations for Syncope. [PDF]

West J Emerg Med
Harris AW, LaBonte L, Massaccesi G, Stryckman B, Myers BA, Gingold DB, Wilkerson RG.   +6 more
europepmc   +1 more source