Results 71 to 80 of about 333,865 (295)
Improving Communication between Doctors and Parents after Newborn Screening [PDF]
, 2011 Background: Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications.
Christopher, Stephanie +9 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy +6 more
wiley +1 more source
Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]
, 2013 Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core +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 +16 more
wiley +1 more source
Emotional Experiences of Mothers of Newborns Admitted to the NICU [PDF]
, 2016 The transition to parenthood is an emotional life experience. Giving birth to a healthy baby and bringing the child home shortly thereafter is a significant emotional occasion.
Queralt, Andrea
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods +16 more
wiley +1 more source
SKIN CARE IN YOUNG CHILDREN: INNOVATIVE APPROACHES
Медицинский совет, 2018 The article presents modern data on the ontogenesis of the skin, the formation of all its elements and structures during prenatal development and postnatal period. The modern ideas about the features of the structure of the skin in the newborn and infant
I. N. Zakharova +2 more
doaj +1 more source
Nutrition and Infant Health in Japan [PDF]
The model presented in this paper emphasizes the importance of the mother's nutritional intake as a determinant of infant health. Using cross-sectional market averages for 1980 and 1981 in Japan, we find that the nutrient intake of the mother during ...
Frank Chaloupka +2 more
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Performance of a Nonelectric Infant Warmer in Rwandan Health Centers. [PDF]
, 2019 Background. Neonatal hypothermia remains a challenge in resource-limited settings. Methods. We conducted a prospective mixed-methods cohort study in rural Rwandan health centers to assess the performance of an infant warmer we designed for low-resource ...
Feldman, Henry A +9 more
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