RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
College preparation for a medical career in the United States. [PDF]
Malvitz M, Khan N, Morgenstern LB.
europepmc +1 more source
Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer +11 more
wiley +1 more source
Motivation towards medical career choice and academic performance in Latin American medical students: A cross-sectional study. [PDF]
Torres-Roman JS +7 more
europepmc +1 more source
Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani +10 more
wiley +1 more source
Supporting transitions in medical career pathways: the role of simulation-based education. [PDF]
Cleland J +5 more
europepmc +1 more source
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto +12 more
wiley +1 more source
Factors important in the choice of a medical career: a Finnish national study. [PDF]
Heikkilä TJ +8 more
europepmc +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
How the PAAO can contribute to a successful medical and academic career
Paulo E.C. Dantas
doaj +1 more source

