Results 111 to 120 of about 1,027,892 (313)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Ethical biopsy

Nutrition in Clinical Practice
Abstract Artificially administered nutrition and hydration (AANH) often trigger complex decision‐making that intersects medical technology, ethical practice, and legal responsibility. Inspired by ASPEN's 50th anniversary clinical ethics discussions, this article introduces the concept of an “ethical biopsy,” a structured ethical ...
Albert Barrocas, Alison Evans
openaire   +2 more sources

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source

History of prostate biopsy – part 2

, 2018
The major limitations of the transrectal ultrasound (TRUS) guided prostate biopsy (PBx) protocols are the risk of profound sepsis and the risk of persistently significant false negative rates, related to the under sampling of the anterior and apical ...
Oussama Elhage, Mohamed Hammadeh, Ben Challacombe, Rick Popert, Sanjeev Madaan, Shiv Kumar Pandian   +5 more
core  

Comparison of 6- and 12-Core Prostate Biopsy in Taiwanese Men: Impact of Total Prostate-Specific Antigen, Prostate-Specific Antigen Density and Prostate Volume on Prostate Cancer Detection

, 2011
Introduction: We retrospectively compared 6- and 12-core prostate biopsies in Taiwanese men and evaluated the impact of prostate volume (PV) , prostate-specific antigen (PSA), and PSA density (PSAD) on the prostate cancer detection rate (PCDR).
姜宜妮;張尚仁;蒲永孝;黃國皓;余宏政, CHIANG, I-NI;CHANG, SHANG-JEN;PU, YEONG-SHIAU;HUANG, KUO-HOW;YU, HONG-JENG   +1 more
core   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

lottaer/liquid-biopsy-denoising: v.1.0.0

Code for the thesis "Deconvolution methods for quantifying copy number variations in liquid biopsy ...
Lotta Eriksson, linneahallin
core   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source