The study demonstrates that estrogen but not progesterone blocks T cell development in the thymus. However, contrary to our expectation, estrogen deprivation by oophorectomy does not enhance T cell development.
With the rising trend in obesity, the incidence of gestational diabetes mellitus (GDM) and perinatal complications associated with the condition are also on the rise. Since the early 1900s, much knowledge has been gained about the diagnosis, implications, and management of gestational diabetes with improved outcomes for the mother and fetus. Worldwide, there is variation in the definition of GDM, methods to screen for the condition, and management options. The International Association of Diabetes in Pregnancy Study Groups has published recommendations for a one-step approach to screen pregnant women for GDM, in order to develop outcome-based criteria that can be used internationally. However, management of GDM continues to be varied, and currently several options are available for treatment of hyperglycemia during pregnancy. A review of various aspects of GDM is discussed with a focus on the medical management during pregnancy, as practiced in the United States.
Background-Most neonates less than 1.0 kg birth weight need red blood cell (RBC) transfusions. Delayed clamping of the umbilical cord 1 minute after delivery transfuses the neonate with autologous placental blood to expand blood volume and provide 60 percent more RBCs than after immediate clamping. This study compared hematologic and clinical effects of delayed versus immediate cord clamping.
Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like protein and its loss of function is known to cause laterality defects in mouse and medaka fish models. Family 1 had one fetus and one deceased child with heterotaxy and complex congenital heart malformations. WES identified a homozygous splicing mutation, c.6473+2_6473+3delTG, which disrupts the invariant splice donor site in intron 42, in both affected individuals. In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. The p.Cys1691Ser substitution affects a highly conserved cysteine residue and is predicted by molecular modeling to disrupt a disulfide bridge essential for the proper folding of the G protein-coupled receptor proteolytic site (GPS) motif. Damaging effects associated with substitutions of this conserved cysteine residue in the GPS motif have also been reported in other genes, namely GPR56, BAI3, and PKD1 in human and lat-1 in C. elegans, further supporting the likely pathogenicity of p.Cys1691Ser in PKD1L1. The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function of the orthologous genes in mice and medaka fish and further expands our understanding of genetic contributions to laterality defects in humans.
Most cases of antenatally diagnosed club foot were not isolated. Even when they were thought to be isolated on antenatal ultrasound, over half of them were later found to be associated with additional severe abnormalities that were detectable only in the neonatal period.
In our series of pregnancies complicated by triploidy, the risk of developing preeclampsia or hypertension in the second trimester was 35%. It appears that elevated serum hCG levels and placentomegaly are associated with a higher risk of preeclampsia but low hCG levels are not. This information is important in counseling patients who are hesitant to terminate a pregnancy purely for a fetal abnormality, even if the anomaly is lethal.
With antenatal steroid exposure and aggressive pulmonary management, survival to discharge after prolonged preterm PROM was 90%. Pulmonary morbidities were common. Of note, the data were limited to women who remained pregnant 1 week or longer after rupture of membranes.
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