Results 31 to 40 of about 97,911 (216)

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

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

Repercussões da hiperinsuflação manual em recém-nascidos pré-termo sob ventilação mecânica

Revista Brasileira de Terapia Intensiva
RESUMO Objetivo: Avaliar as repercussões da hiperinsuflação manual, realizada com ressuscitador manual com e sem válvula de pressão positiva expiratória final, sobre a função respiratória de recém-nascidos pré-termo em ventilação mecânica.
Camila Chaves Viana, Carla Marques Nicolau, Regina Celia Turola Passos Juliani, Werther Brunow de Carvalho, Vera Lucia Jornada Krebs   +4 more
doaj   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

Physical and Physiological Mechanisms of Emergent Hydrodynamic Pressure in High-Flow Nasal Cannula Therapy

Advances in Respiratory Medicine
High-flow nasal cannula (HFNC) therapy is frequently described as a positive pressure modality, yet this classification lacks mechanistic support. This critical narrative review integrates experimental, computational, and clinical evidence to examine the
Jose Luis Estela-Zape
doaj   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Minute ventilation at different compression to ventilation ratios, different ventilation rates, and continuous chest compressions with asynchronous ventilation in a newborn manikin

Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine, 2012
Background In newborn resuscitation the recommended rate of chest compressions should be 90 per minute and 30 ventilations should be delivered each minute, aiming at achieving a total of 120 events per minute.
Solevåg Anne L, Madland Jorunn Marie, Gjærum Espen, Nakstad Britt   +3 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Sleep Apnea and Aortic Dissection

Canadian Respiratory Journal, 1995
A 62-year-old man presented with obstructive sleep apnea, congestive heart failure and Cheyne-Stokes respiration. Further evaluation revealed a chronic dissecting aneurysm of the aorta causing vena caval obstruction.
Patrick J Hanly, David Ford
doaj   +1 more source