Results 101 to 110 of about 2,550,456 (309)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Infant feeding practices and maternal socio-demographic factors that influence practice of exclusive breastfeeding among mothers in Nnewi South-East Nigeria: a cross-sectional and analytical study

International Breastfeeding Journal, 2014
BackgroundMalnutrition is an underlying factor in more than 50% of the major cause of infant mortality-Pneumonia, diarrhoeal disease and measles which account for 70% of infant mortality. Therefore, programs to promote adequate nutrition for age can help
Stanley K Onah, D. Osuorah, J. Ebenebe, C. Ezechukwu, U. Ekwochi, I. Ndukwu   +5 more
semanticscholar   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
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

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

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Determinants of infant feeding practices among mothers living with HIV attending prevention of mother to child transmission Clinic at Kiambu Level 4 hospital, Kenya: a cross-sectional study

Nutrition Journal, 2019
Background Human immunodeficiency virus infection and acquired immune deficiency syndrome is global pandemic with around 150,000 children infected with HIV in 2015.
Naureen Andare, Sophie Ochola, Peter Chege   +2 more
doaj   +1 more source

Infant feeding and HIV [PDF]

BMJ, 2007
Recently, the World Health Organization updated its recommendations of 20001 on infant feeding in the context of HIV.2 At that time, data had just been published quantifying the risk of infection through breast feeding so avoiding breast feeding was acknowledged as the only effective way of avoiding transmission.3 WHO had also just published a meta ...
openaire   +2 more sources