Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life.

A randomized controlled trial of daily weighing in pregnancy to control gestational weight gain.

Background: Excessive gestational weight gain is a modifiable risk factor for the development of obstetric and neonatal complications, and can have a lifelong impact on the health of both mother and offspring. The purpose of this study was to assess whether in addition to standardized medical advice regarding weight gain in pregnancy (including adherence to the Institute of Medicine (IOM) guidelines) (IOM (Institute of Medicine) and NRC (National Research Council, Weight Gain During Pregnancy: Re-examining the guidelines, 2009)), the addition of daily weighing would provide a low cost and simple intervention to reduce excessive weight gain in pregnancy by maintaining weight gain within the target range.

Methods: Women presenting for antenatal care to a secondary level hospital were randomised to routine care or daily weight monitoring.