Results 281 to 290 of about 1,439,563 (359)

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

Cognitive Function in Patients With Complex Regional Pain Syndrome (CRPS). [PDF]

Eur J Pain
Liesto S, Aho T, Jääskeläinen SK, Hietanen M, Kalso E.   +4 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

The impact of exercise self-efficacy on depression in firefighters: mediating effect of basic psychological needs and moderating effect of perceived social support. [PDF]

Front Psychol
Chen W, Yao J, Zhu G, Liu Z, Wang H, Chu D, Niu H.   +6 more
europepmc   +1 more source

Outcomes from a Novel Approach to Studying Consumer Genetic Testing for Germline Cancer and Cardiovascular Risk

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the growing availability of consumer genetic testing for serious disease risks, outcomes data remain limited for individuals undergoing testing for high‐ and moderate‐penetrance genes. To address this gap, we evaluated the feasibility of the Consumer Genetic Testing Outcomes Evaluation Paradigm (CGT‐OEP), a novel approach for studying ...
Madison K. Kilbride, Daniel Chavez‐Yenter, Bob Wong, J. Scott Roberts, Jacqueline Park, Jason Iuliano, Angela R. Bradbury   +6 more
wiley   +1 more source

Psychological well-being of medical and dental students in Saudi Arabia post worldwide pandemic: a cross sectional study. [PDF]

BMC Med Educ
Jabali AH.
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Building resilience through self-defense: the role of martial arts in enhancing psychological strength among women. [PDF]

Front Psychol
Pekel A, Turan MB, Eraslan M, Iqbal M, Pepe O, Yoka K, Yoka O.   +6 more
europepmc   +1 more source

Amateur Rowers to Transatlantic Trio Race Winners: A Case Study Describing the Physiological and Psychological Characteristics, Training Adaptations and Race Responses to Ultra-Endurance Rowing. [PDF]

Eur J Sport Sci
Willmott AGB, Lillis J, Pinto JM, Jewiss M, Turner G, Roberts J.   +5 more
europepmc   +1 more source

Current Concept Review: Medial Patellofemoral Ligament Reconstruction: From Rehabilitation to Return to Sport. [PDF]

Int J Sports Phys Ther
Hsu CJ, Lee C, Christensen RS, Liu TY.
europepmc   +1 more source