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. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1.

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. Both groups received nutrition and exercise advice. RESULTS: Three hundred and ninety-six women were randomised to either the daily weight monitoring group or control group with complete data available for 326 women. The percentage weight gain above target (86.9% (SD 52.3) v 92.7% (SD 50.8) p = 0.31) and change in weight per week during the study period (0.59 kg (SD 0.30) v 0.63 kg (SD 0.31) p = 0.22) were lesser in those undergoing daily weighing compared to routine management, however these did not reach statistical significance. CONCLUSION: Daily weight monitoring as a stand-alone intervention has potential to reduce excessive gestational weight gain. It may have a role as a part of a larger intervention involving dietary and exercise modifications. TRIAL REGISTRATION: The trial was prospectively registered with the Australian New Zealand Clinical Trials Registry. (ACTRN12613001165774, 23/10/ 2013).