American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Postpartum Mental Health Problems in the Mothers of Very, Moderately and Late Preterm Infants During and After COVID-19 Pandemic: A Cross-Sectional Comparison Study and Possible Risk Factors. [PDF]
Depress AnxietyChrzan-Dętkoś M +2 more
europepmc +1 more source
The decline of Campos Novos Paulista (SP), the "mother city" of backcountry Paranapanema
Maria Gabriela Silva [UNESP] Lêdo
openalex +1 more source
Melatonin Levels in 89 Individuals With Smith Magenis Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley +1 more source
Mothers' Views and Experiences of Digital Maternal Presence Intervention and Skin-to-Skin Contact for Neonatal Pain Relief: A Qualitative Study. [PDF]
Nurs OpenPalomaa AK +3 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Maternal Nutritional Practices and Associated Factors Among Breastfeeding Mothers in Jimma Town, Ethiopia: A Community-Based Cross-Sectional Study. [PDF]
Health Sci RepMarine BT, Haile YA, Zewde MG.
europepmc +1 more source
PSYCHOSOCIAL ASPECTS OF MOTHERHOOD AND MOTHER-CHILD RELATIONSHIP: COHORT STUDY PRENATAL BREEZE .
, 2016 Adriana Oliveira Dias de Sousa MORAIS
openalex +1 more source
Critical analyses of the implications of Kangaroo Mother Care on a preterm infant
, 2016 Sonya K. Donald
openalex +2 more sources
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source