Results 101 to 110 of about 2,481 (285)

Physiological barriers to oral intake in survivors of critical illness: A scoping review

Nutrition in Clinical Practice, EarlyView.
Abstract Oral nutrition is the predominant mode of nutrition delivery on the post–Intensive Care Unit (ICU) ward; yet, it is associated with lower intake than via enteral or parenteral nutrition. There are limited data on barriers that influence oral intake in ICU survivors.
Breanna J. Teleki, Elizabeth Viner Smith, Amy Freeman‐Sanderson, Rosalie Yandell, Lee‐anne S. Chapple   +4 more
wiley   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

A comprehensive review on adaptive plasticity and recovery mechanisms post‐acquired brain injury

Neuroprotection, EarlyView.
This figure illustrates the dynamic process of neurogenesis following brain injury, focusing on the roles of neural stem and progenitor cells at the injury site. Key mechanisms include axonal sprouting, synaptogenesis, dendritic remodeling, and brain‐derived neurotrophic factor signaling via TrkB receptors.
Ravi Kumar Rajan
wiley   +1 more source

“I'd rather be in pain than be patronized.” A qualitative study of health care experiences of persons with disabilities

PM&R, EarlyView.
Abstract Background Prior research shows that persons with disabilities (PWD) frequently receive inadequate health care and that physicians are uncomfortable caring for patients with disabilities, both of which may be attributed to the lack of disability education in medical training.
Jessica A. Prokup, Elise M. Pearson, Alan Cuevas Villagomez, Kristyn L. Felman, Amy J. Houtrow, Max B. Hurwitz   +5 more
wiley   +1 more source

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients [PDF]

, 2015
Miloš Brkušanin, Ana Kosać, Vladimir Jovanović, Jovan Pešović, Goran Brajušković, Nikola Dimitrijević, S. Todorović, Stanka Romac, Vedrana Milić Rašić, Dušanka Savić‐Pavićević   +9 more
openalex   +1 more source

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases

Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc‐Millar, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

Transforming Pediatric Rare Disease Drug Development: Enhancing Clinical Trials and Regulatory Evidence With Virtual Patients

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Fianne Sips, Marco Virgolin, Giuseppe Pasculli, Federico Reali, Alessio Paris, Annette Janus, Yann Godfrin, Daniel Röshammar, Luca Marchetti, Jane Knöchel   +9 more
wiley   +1 more source

Clinical aspects of motor neurone disease [PDF]

, 2020
Motor neurone disease (MND), or amyotrophic lateral sclerosis (ALS), is a progressive, fatal neurodegenerative disease affecting upper and lower motor neurones.
Guiloff, RJ, Orrell, RW
core  

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. [PDF]

, 1985
I Hausmanowa-Pétrusewicz, Jacek Zaremba, Julita Borkowska   +2 more
openalex   +1 more source