Results 51 to 60 of about 110,638 (352)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Comparison of food intake and body mass index before pregnancy between women with spontaneous abortion and women with successful pregnancy [PDF]

open access: yesMajallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān, 2017
Introduction:Spontaneous abortion or pregnancy loss is defined as the natural death of fetus before 20th weeks of pregnancy. There is a possibility that food intake is related to spontaneous abortion.
Shirin Amini   +5 more
doaj   +1 more source

How long is expectant management safe in first-trimester miscarriage? [PDF]

open access: yes, 2005
More than 80% of women with a first-trimester spontaneous abortion have complete natural passage of tissue within 2 to 6 weeks with no higher complication rate than that from surgical intervention (strength of recommendation [SOR]: A, based on multiple ...
Butler, Charles   +2 more
core  

Interleukin-18 gene promoter polymorphisms and recurrent spontaneous abortion [PDF]

open access: yes
Background: IL-18 is a multifunctional cytokine capable of inducing either Th1 or Th2 polarization depending on the immunologic milieu. IL-18 is detected at the materno-fetal interface very soon in early pregnancy.
امانی, داور   +5 more
core   +1 more source

Experimental Zika Virus Infection in the Pregnant Common Marmoset Induces Spontaneous Fetal Loss and Neurodevelopmental Abnormalities. [PDF]

open access: yes, 2018
During its most recent outbreak across the Americas, Zika virus (ZIKV) was surprisingly shown to cause fetal loss and congenital malformations in acutely and chronically infected pregnant women.
Aagaard, Kjersti M   +17 more
core   +2 more sources

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit   +16 more
wiley   +1 more source

Relationship between consanguineous marriage and spontaneous abortion and stillbirth

open access: yesPayesh, 2018
Objective (s): spontaneous abortion and stillbirth has always been a devastating experience for the mother and of concern in clinical practice. Since consanguineous marriage is common in Iran, high rates of congenital malformations and genetic diseases ...
Mehri Shams Ghahfarokhi
doaj  

Increased Circulating Levels of Tissue-Type Plasminogen Activator Are Associated with the Risk of Spontaneous Abortion During the First Trimester of Pregnancy

open access: yesDiagnostics, 2020
Spontaneous abortion is a common complication in early pregnancy, with an incidence of around 20%. Ultrasound scan and measurement of human chorionic gonadotropin are used to identify patients at risk of spontaneous abortion; however, there is a clinical
Lara J. Monteiro   +7 more
doaj   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

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