Results 61 to 70 of about 2,052,438 (257)

Decision to delivery interval and perinatal outcome for category one caesarean section in a tertiary hospital

open access: yesIbom Medical Journal, 2020
Background: The Royal college of obstetrics and gynaecology and the American College of Obstetrics and Gynecology recommend a maximum interval of 30 minutes between the decision to perform an emergency caesarean section and delivery of the baby (DDI ...
Attah RA, Hadiza G
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Perinatal Mortality: An Outcome of Quality of Perinatal Care

open access: yesGomal Journal of Medical Sciences, 2010
Background: Perinatal mortality is the most sensitive index of health status of pregnant women and the quality of maternal and child health services. This study was carried out to determine the extent and determinants of perinatal mortality. Methodology:
Shamshad .
doaj  

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan   +5 more
wiley   +1 more source

Doppler prediction of adverse perinatal outcome in PIH and IUGR

open access: yesIndian Journal of Radiology and Imaging, 2006
Purpose : To determine and compare the diagnostic performance of Dopler sonography of fetal middle cerebral artery (MCA), descending abdominal aorta (DAA), umbilical artery (UA), umbilical vein (UV) and inferior vea cava (IVC) for predictoin of adverse ...
B N Lakhkar   +2 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Perinatal outcomes of hypertensive disorders in pregnancy at a referral hospital, Southern Ethiopia.

open access: yesPLoS ONE, 2019
IntroductionHypertensive Disorders in Pregnancy (HDP) complicate about 10% of pregnancies. It accounts to 50% of maternal death in sub-Saharan Africa and precedes 15% of perinatal deaths worldwide.
Netsanet Abera Asseffa   +1 more
doaj   +1 more source

The Iowa Perinatal Letter, January-February-March 2008, Vol. 29, no. 1 [PDF]

open access: yes, 2008
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

The Iowa Perinatal Letter, July-August-September 2007, Vol. 28, no.3 [PDF]

open access: yes, 2007
This newsletter from The Department of Public Health about perinatal health care and ...

core  

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