Results 81 to 90 of about 219,424 (290)
Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi +7 more
wiley +1 more source
Bihdād, 2013 Introduction: The correct development of sleep and wake immature states of premature infant has important role in maturation of brain but often, healthcare personnel neglect from this dimension of development and there are limited data about sleep and ...
F. Bastani +4 more
doaj
Impact of deployment of “Stork Network” in hospitalizations in the Neonatal Intensive Care Unit
Rev Rene, 2016 Objective: to assess the impact of the deployment of “Stork Network” (Rede Cegonha) in hospitalizations in the Neonatal Intensive Care Unit. Methods: a retrospective cross-sectional study with 283 medical records of newborns hospitalized in neonatal ...
Sandra Mara Aparecida dos Santos de Andrade +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
Frontiers in PsychiatryIntroductionIt is well established that a premature birth increases the likelihood of developing anxiety during the postpartum period, and that the environment of the neonatal intensive care unit (NICU) might be a contributing factor.
Semra Worrall +6 more
doaj +1 more source
The evidence for the benefits from breast milk in the neurodevelopment of premature babies – a review of the recent literature [PDF]
, 2018 Introduction. The brain in preterm babies is usually not fully developed and therefore early post-term events can have long-lasting neurodevelopment and cognitive outcomes. It is known that cerebral white matter connectivity is important for later intact
Paduraru, Danuta Iulia
core +1 more source
The influence of infant irritability on maternal sensitivity in a sample of very premature infants [PDF]
, 2003 The relationship between maternal sensitivity and infant irritability was investigated in a short-term longitudinal study of 29 very preterm infants.
Balleyguier +25 more
core +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone +11 more
wiley +1 more source
PLoS ONE, 2018 Digestion of milk proteins in the premature infant stomach releases functional peptides; however, which peptides are present has not been reported. Premature infants are often fed a combination of human milk and bovine milk fortifiers, but the variety of
Søren D Nielsen +3 more
doaj +1 more source
ANETODERMA CASE IN A PREMATURE INFANT
Педиатрическая фармакология, 2013 .
E. I. Pilguy +3 more
doaj +1 more source