Results 41 to 50 of about 20,962 (287)

Risk factors associated with adverse perinatal outcome in planned vaginal breech labors at term : a retrospective population-based case-control study [PDF]

open access: yes, 2017
Background: Vaginal breech delivery is associated with adverse perinatal outcome. The aim of this study was to identify factors associated with adverse perinatal outcome in term breech pregnancies, and to provide clinicians an aid in selecting women for ...
A Aviram   +31 more
core   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

open access: yesArthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

Efficacy of lactoferrin oral administration in the treatment of anemia and anemia of inflammation in pregnant and non-pregnant women: an interventional study [PDF]

open access: yes, 2018
The discovery of the ferroportin-hepcidin complex has led to a critical review on the treatment of anemia and anemia of inflammation (AI). Ferroportin, the only known mammalian iron exporter from cells to blood, is negatively regulated by hepcidin, a ...
Antimo Cutone   +6 more
core   +2 more sources

THE CAUSES AND CONSEQUENCES OF OLIGOHYDRAMNIOS [PDF]

open access: yesThe American Journal of the Medical Sciences, 1890
n ...
openaire   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

The Experience of Amnioinfusion for Oligohydramnios During the Early Second Trimester

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2007
Objective: In the past, oligohydramnios occurring early during the secondary trimester was the reason to terminate the pregnancy because of poor prognosis. Even though amnioinfusion has been reported for improving the prognosis of the infant, it is still
Tian-Lun Hsu   +3 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Isolated oligohydramnios is not an indicator for adverse perinatal outcome [PDF]

open access: yes, 2009
Objectives: To assess the impact of isolated oligohydramnios on Perinatal outcomes. Methods: A prospective Cohort Study was conducted at the department of Obstetrics and Gynaecology, The Aga Khan University Hospital, Karachi, Pakistan.
Ahmad, Hina, Munim, Shama
core   +1 more source

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