Results 81 to 90 of about 1,156,680 (310)

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Body composition after implementation of an enhanced parenteral nutrition protocol in the neonatal intensive care unit: a randomised pilot trial

Annals of Human Biology
Background Very low birthweight (VLBW) infants are at risk for growth failure and poor neurodevelopment. Optimised parenteral nutrition may help promote optimal growth and development, but concerns that provision of enhanced nutrition may contribute to ...
Emily M. Nagel, Jennifer Super, Nicholas A. Marka, Ellen W Demerath, Sara E Ramel   +4 more
doaj   +1 more source

Relationship between knowledge on infant nutrition and infant feeding practices among mothers aged 15 to 40 years with infants 7 months to 1 year old at Marondera’s three urban health centres

, 2019
Poor infant feeding practices contribute to infant morbidity and mortality. The purpose of this study was to examine the relationship between knowledge on infant nutrition and infant feeding practices.
Tugwete, Mercy
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Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Parental Response to Health Risk Information: A Lab Experiment on Evaluating Willingness-to-Pay for Safer Infant Milk Formula [PDF]

Enterobacter sakazakii, a pathogen that can be found in powdered infant milk formula, can cause adverse health effects on infants. Using Vickrey auction, this study examines parents' willingness to pay (WTP) for a quality assurance label on powdered ...
Roosen, Jutta, Goldberg, Isabell, Nayga, Rodolfo M., Jr.   +2 more
core  

Atypical X‐Linked Severe Combined Immunodeficiency in a Patient With Early‐Onset Inflammatory Bowel Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Primary immunodeficiency disorders may present with gastrointestinal inflammation resembling inflammatory bowel disease (IBD), particularly in patients with pediatric or very‐early‐onset disease. We report a 24‐year‐old male with lifelong immune dysregulation and early‐onset IBD who was ultimately found to carry a hemizygous intronic IL2RG ...
Agustina Fainguersch, Jennah Foltz, Theodore E. Wilson, Sydney A. Lau, Xiaonan Zhao, Casey A. Thornton, Morgan Driver, Jay Jun‐Hong Jin, Jean P. Molleston, Xiaoyi Zhang   +9 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Health Education to Improve Maternal Awareness on Soy-Based Infant Formula for Individuals with Cow’s Milk Allergy in Indonesia

Unnes Journal of Public Health
 Background: Cow’s milk allergy is relatively common among Indonesian infants who are not exclusively breastfed. Despite extensive hydrolyzed formula and amino acid-based formula are the recommended nutrition for infants with moderate-tosevere illness ...
Budi Setiabudiawan, Juwalita Surapsari, Melissa Stephanie Kartjito, Nova Sitorus, Charisma Dilantika, Ray Wagiu Basrowi, Juandy Jo   +6 more
doaj   +1 more source

Progress and challenges in infant nutrition and public health

, 2014
During the past 50 years substantial progress has been made in improving the health and wellbeing citizens of all ages in our region, but particularly of infants and children.
Binns, C., Lee, M.K.
core  

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source