Results 31 to 40 of about 5,344,144 (292)

Fetuin A concentration in the second trimester amniotic fluid of fetuses with Trisomy 21 appears to be lower: phenotypic considerations [PDF]

open access: yes, 2012
Objective: We investigated whether the concentration of the glycoprotein fetuin A is altered in the second trimester amniotic fluid of trisomy 21 pregnancies compared with euploid pregnancies. Methods.
Iliodromiti, S.   +15 more
core   +1 more source

Oligohydramnios in women with preterm prelabor rupture of membranes and adverse pregnancy and neonatal outcomes.

open access: yesPLoS ONE, 2014
ObjectiveTo determine the association between the presence of oligohydramnios, determined as an amniotic fluid index ≤ 5 cm and the intra-amniotic inflammatory response, fetal inflammatory response and neonatal outcomes in actively managed preterm ...
Marian Kacerovsky   +8 more
doaj   +1 more source

Correlation of amniotic fluid index with fetomaternal outcome [PDF]

open access: yes, 2021
Background: Amniotic fluid acts like a protective cover around the baby. Advances in ultrasound have increased early detection of abnormal amniotic fluid volumes.
Raikar, Sunil S.   +5 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

Maternal Body Mass Index and Amniotic Fluid Index in Late Gestation [PDF]

open access: yesAl-Azhar International Medical Journal, 2000
Background: Complications during pregnancy and delivery, including gestational diabetes, perineal injuries, hypertensive disorders, and macrosomia, are linked to a maternal high body mass index (BMI).
Mervat Ibrahim   +2 more
doaj   +1 more source

The correlation between the amniotic fluid level determined by the amniotic fluid index (cm) and an interval from PPROM to amniocentesis (hours).

open access: yes, 2014
The correlation between the amniotic fluid level determined by the amniotic fluid index (cm) and an interval from PPROM to amniocentesis (hours).
Ivana Musilova (151501)   +7 more
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +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

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Characterization of the extracellular matrix from human and dog umbilical cords

open access: yesThe Anatomical Record, EarlyView.
Abstract The extracellular matrix is important for maintaining tissue morphogenesis and homeostasis; it can also be used as a biomaterial for the production of biological scaffolds. Particularly, the umbilical cord has shown potential in the production of scaffolds for small‐diameter vessels.
Ana Carla Mendonça   +6 more
wiley   +1 more source

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