Results 91 to 100 of about 4,787,434 (307)

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

Helmet CPAP to Treat Acute Hypoxemic Respiratory Failure in Patients with COVID-19: A Management Strategy Proposal

Journal of Clinical Medicine, 2020
Since the beginning of March 2020, the coronavirus disease 2019 (COVID-19) pandemic has caused more than 13,000 deaths in Europe, almost 54% of which has occurred in Italy.
D. Radovanovic, M. Rizzi, S. Pini, M. Saad, D. Chiumello, P. Santus   +5 more
semanticscholar   +1 more source

Influenza Vaccination Responses in Disabled Stroke Patients: A Single‐Center Prospective Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao, Sureerat Suwatcharangoon, Pintip Ngamjanyapron, Kobporn Boonnak, Thanitta Suangtamai, Porpon Rotjanapan   +5 more
wiley   +1 more source

Continuous positive airway pressure in COVID-19 patients with moderate-to-severe respiratory failure

European Respiratory Journal, 2020
Noninvasive ventilation (NIV) and continuous positive airway pressure (CPAP) are recommended for acute hypoxaemic respiratory failure (AHRF) due to cardiogenic pulmonary oedema but no recommendation has been made for viral pandemics, because of the lack ...
C. Brusasco, F. Corradi, A. Di Domenico, F. Raggi, Graziano Timossi, G. Santori, V. Brusasco   +6 more
semanticscholar   +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

Phenotyping exercise limitation of patients with Interstitial Fibrosing Lung Disease: the importance of exercise hemodynamics

Pulmonology
Introduction and objective Left-heart dysfunction and pulmonary vasculopathy are increasingly recognized as contributing factors of exercise capacity limitation in interstitial fibrosing lung disease (IFLD).
E. Panagiotidou, A. Βoutou, E. Fouka, D. Papakosta, E. Chatzopoulos, E. Sourla, A. Markopoulou, I. Kioumis, I. Stanopoulos, G. Pitsiou   +9 more
doaj   +1 more source

Early consensus management for non-ICU acute respiratory failure SARS-CoV-2 emergency in Italy: from ward to trenches

European Respiratory Journal, 2020
The number of people infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is increasing dramatically throughout the world [1], and in Italy [2, 3], particularly in the northern region of Lombardy [4].
M. Vitacca, S. Nava, P. Santus, S. Harari   +3 more
semanticscholar   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +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

Effect of Noninvasive Respiratory Strategies on Intubation or Mortality Among Patients With Acute Hypoxemic Respiratory Failure and COVID-19: The RECOVERY-RS Randomized Clinical Trial.

Journal of the American Medical Association (JAMA), 2022
MD Gavin D Perkins, PhD Chen Ji, PhD Bronwen A Connolly, PhD Keith Couper, PhD Ranjit Lall, PhD J Kenneth Baillie, PhD Judy M Bradley, PhD Paul Dark, MD Chirag Dave, PhD Anthony De Soyza, Mbbs Anna V Dennis, Anne Devrell, BPhil, S. Fairbairn, Mb Bch, MSc Hakim Ghani, E. Gorman, DPhil Christopher A Green, PhD Nicholas Hart, S. Wan, P. hee, Zoe Kimbley, Mb Chb, MD Shyam Madathil, MRes Nicola McGowan, MA Benjamin Messer, J. Naisbitt, Pgce Chloe Norman, PhD Dhruv Parekh, MSc Emma M Parkin, PhD Jaimin Patel, BA Scott E Regan, Mbbs Clare Ross, PhD Anthony J Rostron, Mbbs Mohammad Saim, MD Anita K Simonds, BSc Emma Skilton, PhD Nigel Stallard, MD Michael Steiner, PhD Rama Vancheeswaran, PhD Joyce Yeung, MD Daniel F McAuley   +41 more
semanticscholar   +1 more source