Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.

Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population.

Transcriptional memory of dFOXO activation in youth curtails later-life mortality through chromatin remodeling and Xbp1.

A transient, homeostatic transcriptional response can result in transcriptional memory, programming subsequent transcriptional outputs. Transcriptional memory has great but unappreciated potential to alter animal aging as animals encounter a multitude of diverse stimuli throughout their lifespan. Here we show that activating an evolutionarily conserved, longevity-promoting transcription factor, dFOXO, solely in early adulthood of female fruit flies is sufficient to improve their subsequent health and survival in midlife and late life.

Maternal race and pre-eclampsia: Cohort study and systematic review with meta-analysis.

Objectives: To examine the association between race and pre-eclampsia and gestational hypertension after adjustment for factors in maternal characteristics and medical history in a screening study from the Fetal Medicine Foundation (FMF) in England, and to perform a systematic review and meta-analysis of studies on pre-eclampsia.

Design: Prospective observational study and systematic review with meta-analysis.

Setting: Two UK maternity hospitals.

Maternal inherited thrombophilia and pregnancy outcomes.

Thrombophilia is a group of genetical disorders that cause blood to clot abnormally. Thrombophilia is linked to recurrent pregnancy loss, foetal growth restriction, late miscarriages, stillbirth and preeclampsia. Clinicians usually apply the term thrombophilia only to patients with atypical thrombosis.

Colon cancer in pregnancy: a diagnostic and therapeutic challenge.

Metastatic colorectal cancer during pregnancy and postpartum is rather rare, but it represents major diagnostic and therapeutic challenges for obstetricians and surgeons. Cancer itself rarely affects the placenta or growing baby directly. However, metastatic disease is much more common than in nonpregnant patients and detecting cancer while pregnant can be complicated for both the mother and the health care team.

Technical note: Applicability of tooth cementum annulation to an archaeological population.

The use of tooth cementum annulations for age determination has been deemed promising, exhibiting high correlations with chronological age. Despite its apparent potential, to date, the tooth cementum annulations method has been used rarely for estimating ages in archaeological populations. Here we examine the readability of cementum annulations and the consistency of age estimates using a sample of 116 adults from the Iron Gates Gorge Mesolithic/Neolithic series.