Results 91 to 100 of about 2,242,656 (348)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Maternal infant feeding behaviors and disparities in early child obesity.

Childhood Obesity, 2014
BACKGROUND Although disparities in child obesity exist during infancy, the underlying mechanisms are unclear. Assessing dissimilarities in feeding practices, styles, and beliefs may provide a better understanding of these mechanisms. This study sought to
R. Gross, A. Mendelsohn, A. Fierman, Nicole Hauser, M. Messito   +4 more
semanticscholar   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Inappropriate infant feeding practices of HIV-positive mothers attending PMTCT services in Oromia regional state, Ethiopia: a cross-sectional study

International Breastfeeding Journal, 2018
Background Inappropriate infant feeding affects the probability of mother-to-child transmission of HIV and HIV-free survival of infants. However, in Ethiopia limited evidence exists regarding the infant feeding practice of mothers who are HIV-positive ...
Daba Ejara, Demelash Mulualem, Samson Gebremedhin   +2 more
doaj   +1 more source

Milk- and solid-feeding practices and daycare attendance are associated with differences in bacterial diversity, predominant communities, and metabolic and immune function of the infant gut microbiome

Frontiers in Cellular and Infection Microbiology, 2015
The development of the infant intestinal microbiome in response to dietary and other exposures may shape long-term metabolic and immune function. We examined differences in the community structure and function of the intestinal microbiome between four ...
A. Thompson, A. Monteagudo-Mera, M. B. Cadenas, M. Lampl, M. A. Azcarate-Peril   +4 more
semanticscholar   +1 more source

Age-appropriate feeding practices of mothers and nutritional status of infants in an urban community in Kano State, North West Nigeria

Indian Journal of Health Sciences and Biomedical Research KLEU, 2019
BACKGROUND: Age-appropriate infant feeding practice, a major determinant of child growth, development, and survival, remains suboptimal in many developing countries.
Umma Abdulsalam Ibrahim, Amole Taiwo Gboluwaga, Zubairu Iliyasu, Mahmud Gambo Jahun   +3 more
doaj   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Approach to Complementary Feeding and Infant Language Use: An Observational Study

Maternal and Child Nutrition
Emerging research suggests that a more infant‐led approach to complementary feeding may confer benefits for child language, but these findings are based on parent report studies.
Claire Farrow, Jacqueline Blissett, Shefu Islam, Rachel Batchelor, Rebecca Norman, Charlotte Webber, Elsa Addessi, Francesca Bellagamba, Amy T. Galloway, Laura Shapiro   +9 more
doaj   +1 more source

Infant feeding knowledge and practice among HIV positive mothers attending HIV treatment centres in Lagos

Nigerian Journal of Paediatrics, 2022
Background: Twentyfive to forty percent of children will be infected with HIV in the absence of any form of intervention which is Prevention of Mother to Child Transmission (PMTCT).
Olatona Foluke Adenike, Odofin Mayowa Omolabake, Adeniyi Oluwafunmilayo Funke, Ayankogbe Olayinka Olufumi   +3 more
doaj