Results 41 to 50 of about 238,087 (309)

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

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

Chronic noninvasive ventilation in COPD: towards the identification of a responder phenotype

ERJ Open Research
Purpose Chronic noninvasive ventilation (NIV) is an effective treatment for patients with chronic hypercapnia due to COPD, but the improvement in health-related quality of life (HRQoL) varies significantly among individuals.
Tim Raveling, Jorine E. Hartman, Renzo Boersma, Peter J. Wijkstra, Marieke L. Duiverman   +4 more
doaj   +1 more source

Mimickers of chronic thromboembolic pulmonary hypertension on imaging tests: a review

Pulmonary Circulation, 2020
Chronic thromboembolic pulmonary hypertension (CTEPH) is caused by mechanical obstruction of large pulmonary arteries secondary to one or more episodes of pulmonary embolism.
Shraddha Narechania, Rahul Renapurkar, Gustavo A. Heresi   +2 more
doaj   +1 more source

The Efficacy and Safety of Pulmonary Vasodilators in Pediatric Pulmonary Hypertension (PH): A Systematic Review and Meta-analysis

Frontiers in Pharmacology, 2021
Background: We performed a meta-analysis to evaluate the efficacy and safety of pulmonary vasodilators in pediatric pulmonary hypertension (PH) patients.Methods: We searched electronic databases including PubMed, EMBASE, and the Cochrane Library up to ...
Tingting Shu, Huaqiao Chen, Lu Wang, Wuwan Wang, Panpan Feng, Rui Xiang, Li Wen, Wei Huang   +7 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

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

Home noninvasive ventilation in severe COPD: in whom does it work and how?

ERJ Open Research
Background Not all hypercapnic COPD patients benefit from home noninvasive ventilation (NIV), and mechanisms through which NIV improves clinical outcomes remain uncertain.
Tim Raveling, Judith M. Vonk, Nicholas S. Hill, Peter C. Gay, Ciro Casanova, Enrico Clini, Thomas Köhnlein, Eduardo Márquez-Martin, Tessa Schneeberger, Patrick B. Murphy, Fransien M. Struik, Huib A.M. Kerstjens, Marieke L. Duiverman, Peter J. Wijkstra   +13 more
doaj   +1 more source

Continuous and bilevel positive airway pressure may improve radiotherapy delivery in patients with intra-thoracic tumors

Clinical and Translational Radiation Oncology
Background: Minimizing tumor motion in radiotherapy for intra-thoracic tumors reduces side-effects by limiting radiation exposure to healthy tissue. Continuous or Bilevel Positive Airway Pressure (CPAP/BiPAP) could achieve this, since it could increase ...
J. Elshof, C.M. Steenstra, A.G.H. Niezink, P.J. Wijkstra, R. Wijsman, M.L. Duiverman   +5 more
doaj   +1 more source

Rationale and study design of PROVHILO - a worldwide multicenter randomized controlled trial on protective ventilation during general anesthesia for open abdominal surgery

Trials, 2011
Background Post-operative pulmonary complications add to the morbidity and mortality of surgical patients, in particular after general anesthesia >2 hours for abdominal surgery.
Hedenstierna Göran, Binnekade Jan M, Hollmann Markus W, Tschernko Edda M, Hiesmayr Michael, Wrigge Hermann, Canet Jaume, Jaber Samir, Severgnini Paolo, Hemmes Sabrine NT, Putensen Christian, de Abreu Marcelo, Pelosi Paolo, Schultz Marcus J   +13 more
doaj   +1 more source