Results 1 to 10 of about 15,704 (225)

French database of children and adolescents with Prader-Willi syndrome [PDF]

BMC Medical Genetics, 2008
Background Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on what factors are involved in its ...
Arnaud Catherine, Glattard Melanie, Diene Gwenaelle, Cazals Laurent, Molinas Catherine, Tauber Maithe   +5 more
doaj   +2 more sources

Involvement in daily life activities from the perspectives of children and young people with childhood‐onset disabilities: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
This scoping review aimed to understand the construct ‘involvement’ in daily life activities from the perspective of children and young people with childhood‐onset disabilities. We identified six conceptual ideas, including a continuum of inner dedication or investment in‐the‐moment, and five others reflecting how children and young people process ...
Vera C Kaelin, Kinga Quaaden, Helena Lindgren, Mats Granlund, Christine Imms   +4 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Use of Wearable Sensors in Angelman Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Wearable sensors are a promising method for collecting clinical trial outcome data for people with Angelman syndrome (AS). However, there has yet to be a systematic probe into the ways in which wearable sensors have been successfully used in AS. The current study aims to provide a quantitative summary of wearable sensors used in AS,
Veronika Vozka, Wei Siong Neo, Jane Kinkus Yatcilla, Carolyn E. B. McCormick, Roslyn Harold, Kimberly Gálvez‐Ortega, Mihir Dey, Laura E. Fitzpatrick, A. J. Schwichtenberg, Orlando S. Hoilett, Dan Foti, Bridgette L. Kelleher   +11 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Established and Emerging Biomarkers to Characterize Persons at Risk for Obesity—Paving the Way for Targeted Clinical Intervention Trials—A Comprehensive Position Paper

Obesity Reviews, EarlyView.
ABSTRACT Despite all efforts, obesity remains a major health concern worldwide, with continuously increasing rates, affecting approx. 14% of the total world population, being as high as 43% in some countries. As obesity is related to numerous comorbidities, including type 2 diabetes, cardiovascular diseases, and some types of cancer, the consequences ...
Farhad Vahid, Victoria Stopa, Laurent Malisoux, Yvan Devaux, Elsa Lamy, Fernando Capela e Silva, Sarah Forberger, Tiziana de Magistris, Antoni Sureda, Margalida Monserrat‐Mesquida, Maria Pérez‐Jiménez, Rajini Nagrani, Maria Giovanna Onorati, Michele Filippo Fontefrancesco, Jonathan Turner, Mahesh S. Desai, Josep Tur, Cristina Bouzas, Gino Gabriel Bonetti, Oliver Riedel, Gitte Ravn‐Haren, Rikke Andersen, Torsten Bohn   +22 more
wiley   +1 more source

The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader–Willi syndrome: study protocol for a randomized controlled trial

Trials, 2018
Background Constipation is a frequent problem in adults with Prader–Willi syndrome. Certain probiotics have been shown to improve transit and gastrointestinal symptoms of adults with functional constipation.
Zainab Alyousif, Jennifer L. Miller, Mariana Y. Sandoval, Chad W. MacPherson, Varuni Nagulesapillai, Wendy J. Dahl   +5 more
doaj   +1 more source

Precision or Paradox? AI‐Driven Adiposity Imaging in Women With Overweight and Obesity: A Systematic Review and Meta‐Analysis

Obesity Reviews, EarlyView.
ABSTRACT Artificial intelligence (AI) enables automated, high‐throughput adiposity quantification, offering refined risk stratification for women with overweight and obesity. We systematically reviewed and meta‐analyzed studies evaluating AI‐based segmentation of visceral, subcutaneous, and total fat in adult women populations (BMI: 25–29.9 and ≥ 30 kg/
Asefa Adimasu Taddese, Bjorn T. Tam
wiley   +1 more source

Circulating microRNA signatures reveal core and reversible dysregulation in obesity via machine learning

The Journal of Physiology, EarlyView.
Abstract figure legend Machine learning analysis of circulating microRNA (miRNA) profiles identified a minimal set of biomarkers that distinguish individuals with obesity from lean individuals both before and after weight‐loss intervention. Comparative analyses revealed heterogeneous molecular responses to weight reduction, with some miRNAs showing ...
Yuan Yue, Rajesh Katare, Jeremiah Deng, Daniel Alencar Da Costa, Patrick Manning   +4 more
wiley   +1 more source

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

Clinics, 2012
OBJECTIVE: Prader-Willi Syndrome is a common etiology of syndromic obesity that is typically caused by either a paternal microdeletion of a region in chromosome 15 (microdeletions) or a maternal uniparental disomy of this chromosome.
Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, Israel Gomy, Debora Romeo Bertola, Monica Castro Varela, Celia P. Koiffmann, Chong Ae Kim   +7 more
doaj   +1 more source