Results 101 to 110 of about 785,880 (352)

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

The relationship between functional health literacy and health promoting behaviors among older adults [PDF]

, 2014
Background: Health literacy is a measure of individual’s ability to read, comprehend, and act on medical instructions. Older adults are one of the most important at risk groups affected by the impact of inadequate health literacy.
Babaei Heydarabadi, Akbar., Javadzade, Seyed Homamodin., Mostafavi, Firouzeh., Reisi, Mahnoush., Sharifirad, Gholamreza., Tavassoli, Elahe.   +5 more
core   +2 more sources

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

Evaluation of a community-based intervention (STOP-DM) for Korean Americans with type 2 diabetes: Measured vs. perceived health outcomes [PDF]

, 2014
Type 2 diabetes mellitus (DM) is a serious health problem in Asian-American communities, including the Korean American immigrants (KAI), one of the most underserved and understudied minority populations in the US.
Woolheater, Katelyn
core  

Opportunities for faculty-librarian collaboration in an expanded dentistry curriculum. [PDF]

, 2018
With the increased emphasis on evidence-based practice, developing information literacy (IL), as well as other literacies (e.g., oral), earlier in programs is becoming widely accepted in medicine and allied fields.
Lowe, M. Sara, Quirke, Michelle, Stone, Sean M.   +2 more
core   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

The Relationship between Physical Activity and Motor Competence of Foundation Phase Children in Wales during the School Day

Children
Early childhood is a crucial time for children to develop their fundamental motor skills (FMS), serving as a foundation for engagement in lifelong physical activity (PA). With increasing concerns over the declining levels of PA and motor competence (MC),
Amanda John, Nalda Wainwright, Jacqueline D. Goodway, Andy Williams   +3 more
doaj   +1 more source

Helping patient educators meet health literacy needs: End-user testing and iterative development of an innovative health literacy editing tool

PEC Innovation, 2023
Objective: The Sydney Health Literacy Lab (SHeLL) Editor is an online text-editing tool that provides real-time assessment and feedback on written health information (assesses grade reading score, complex language, passive voice).
Julie Ayre, Danielle M. Muscat, Olivia Mac, Carissa Bonner, Adam G. Dunn, Jason Dalmazzo, Dana Mouwad, Kirsten McCaffery   +7 more
doaj