Results 51 to 60 of about 8,419,446 (400)

Small for gestational age and obesity related comorbidities

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2018
Infant born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature and metabolic alterations in later life.
Y. Hong, Sochung Chung
semanticscholar   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella   +8 more
wiley   +1 more source

Uterine Gangrene and Mechanical Intestinal Obstruction in a Teenager Following Unsafe Abortion [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2019
Unsafe abortion often leads to complications since it is carried out by untrained persons in an unsafe environment. The most common complications are anaemia, bowel injury, bladder injury, uterine perforation, and sepsis.
Anthony Jude Edeh   +4 more
doaj   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings   +1 more
wiley   +1 more source

Gestational age affects the cerebellum development in neonatal infants: establishment of cerebellar extrauterine reference values as a function of gestational age

open access: yesClinical and Experimental Obstetrics & Gynecology, 2021
This study aims to provide the cerebellar extrauterine reference value related to gestational age by analysing the neonatal cerebellum development with different gestational age, by means of cranial ultrasound.
Rui-Ke Liu   +6 more
doaj   +1 more source

Quantifying myelin in brain tissue using color spatial light interference microscopy (cSLIM) [PDF]

open access: yes, 2020
Deficient myelination of the brain is associated with neurodevelopmental delays, particularly in high-risk infants, such as those born small in relation to their gestational age (SGA). New methods are needed to further study this condition. Here, we employ Color Spatial Light Interference Microscopy (cSLIM), which uses a brightfield objective and RGB ...
arxiv   +1 more source

Association of Gestational Age at Birth With Symptoms of Attention-Deficit/Hyperactivity Disorder in Children

open access: yesJAMA pediatrics, 2018
Importance Preterm birth is associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD); however, it is unclear to what extent this association can be explained by shared genetic and environmental risk factors and whether ...
H. Ask   +6 more
semanticscholar   +1 more source

Gestational age in twins. [PDF]

open access: yesArchives of Disease in Childhood, 1980
Dubowitz et al. have offered a scoring system for estimating the gestational age of newborn babies. If the system is applied to twin pairs, the heavier twin is generally estimated to have a greater gestational age than the lighter one. Previously this has been interpreted as a flaw in the scoring system.
openaire   +3 more sources

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler   +21 more
wiley   +1 more source

Fetal oxygen delivery and consumption and blood gases in relation to gestational age [PDF]

open access: yesarXiv, 2021
Fetal oxygen delivery and consumption and blood gases in relation to gestational age. Oxygen crosses the placenta by diffusion and placental permeability to O$_2$ is high. Thus, the fetus receives adequate amounts, but vascular Po$_2$ is much lower than after birth. Studies of sustained fetal hypoxemia and acute 40-45% hemorrhage show that hypoxemia is
arxiv  

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