Results 51 to 60 of about 676,557 (290)

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

Influence of longwall gateroad convergence on the process of mine ventilation network-model tests

International Journal of Mining Science and Technology, 2019
Hard coal mines are required to constantly ventilate mine workings to ensure that the air composition is at a certain humidity and temperature level that is comfortable for underground mine workers, especially in deep deposits.
Andrzej Walentek, Tomasz Janoszek, Stanisław Prusek, Aleksander Wrana   +3 more
doaj   +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

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

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

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Research of disaster resistance ability evaluation of mine ventilation system

Gong-kuang zidonghua, 2015
The disaster resistance ability evaluation index system of mine ventilation system during fire period was established from five aspects including ventilation system environment, equipments and facilities of ventilation and fire prevention, safety ...
LIU Yejiao, TIAN Zhichao, LIU Hong, REN Yuhui   +3 more
doaj   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

Analysis method of mine ventilation difficulty degree based on ventilation equivalent area

Gong-kuang zidonghua, 2020
In view of problems that equivalent orifice commonly used in current mine ventilation difficulty degree evaluation cannot effectively reflect details of ventilation difficulty degree, and ventilation resistance measurement cannot well measure effect of ...
WANG Yanping, FAN Jingdao, YAN Zhenguo, LI Chuan, CHANG Xintan, LI Xuewen   +5 more
doaj   +1 more source

Real Time Integrated Mine Ventilation Monitoring

, 2003
Software has been developed to link real time information generated by underground mine ventilation airflow monitoring sensors into a network simulation program to undertake network simulations and allow interpretation of key system data and operational ...
Gillies, Stewart, Wu, Hsin Wei, Tuffs, N., Sartor, T.   +3 more
core   +1 more source