Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

GATA5 belongs to the GATA family of transcription factors characterized by highly evolutionarily conserved zinc-finger DNA-binding domains. Mouse models have implicated a role of GATA5 during mammalian embryogenesis, including proper heart development and gender-specific regulation of female genitourinary tract formation. Previous studies have found an association of heterozygous missense alterations in GATA5 with a broad variety of heart diseases; however, the clinical relevance of the identified susceptibility variants has remained unclear. Here, we report on a girl with hydrops fetalis, congenital heart defects, clitoromegaly and postnatally increased 17-hydroxyprogesterone levels. By trio whole-exome sequencing, we identified compound heterozygous missense mutations, p.Ser19Trp and p.Arg202Gln, in GATA5 as putative disease-causing alterations. The identified mutations fail to rescue the cardia bifida phenotype in a zebrafish model, mislocalize to subnuclear foci when transiently transfected in HEK293 cells and possess less transcriptional activity. In addition to demonstrating the pathogenicity of identified mutations, our findings show that GATA5 mutations, in addition to heart diseases, can result in congenital abnormalities of the female genitourinary tract in humans.

Indoor Climate and Air Quality in a Neonatal Intensive Care Unit.

INTRODUCTION AND OBJECTIVE: The skin and respiratory system of premature neonates are in permanent contact with indoor room air. We longitudinally analyzed the room air climate and quality in neonatal intensive care inside and outside an incubator. METHODS: Sampling was performed in 2 patient rooms and inside a neonatal incubator (Caleo, Draeger Medical, Lübeck, Germany) over 6 weeks with 5-min resolution resulting in 12,090 samples (U-Monitor, U-Earth Biotech, London, UK). Temperature, humidity, and air pollutants, including particulate matter (<1 µm [PM1] and <2.5 µm [PM2.5]), volatile organic compounds (VOC), and odorous gases (OG), were recorded. Room air parameters were analyzed using time series analysis. A linear regression model was used to check for statistically significant linear trends. Statistical analysis was performed using decompensation of time series analysis and spectral analysis by fast Fourier transformation. RESULTS: The indoor climate target values of the ward's central ventilation system for temperature and humidity were not always met. Room air parameters (PM, VOC, and OG) showed significant daytime-dependent fluctuations with different oscillation frequencies per day. The daily mean (first quartile - third quartile) concentrations of PM2.5 were significantly higher inside the incubator compared to the surrounding ambient air (2,158 [1,948-2,298] pcs/L vs. 2,018 [1,852-2,058] pcs/L; p < 0.001). OG were significantly lower inside the incubator compared to ambient air. VOC levels inside the incubator were substantially higher during the first 5 days of the observation period compared to VOC levels in the surrounding ambient air. CONCLUSIONS: The indoor climate of neonatal intensive care units should be monitored in real time to detect deviations from target parameters quickly. In our neonatal intensive care unit, indoor air quality fluctuated significantly depending on the time of day. We highly suspect that air pollutants are carried into the direct patient environment by visitors and medical staff. The incubator does not protect against PM and VOC exposure but reduces exposure to OG. Cleaning procedures may lead to substantially higher concentrations of VOC inside the incubator and may represent a potentially harmful factor for premature infants.

Very low birth-weight as a risk factor for postpartum depression four to six weeks postbirth in mothers and fathers: Cross-sectional results from a controlled multicentre cohort study.

BACKGROUND: Preterm birth and survival rates of very low birth-weight (VLBW: <1.500g) infants have increased. Although new parents are frequently affected by depressive symptoms, little is known about prevalence, risk, and predictors of parental postpartum depression (PPD) following VLBW birth. Furthermore, most studies assessing PPD in parents of preterm children relied on self-report only. METHODS: As part of the HaFEn cohort-study, data from the index groups of parents with VLBW infants and the control group of parents with term infants were cross-sectionally analysed. Families were recruited at the three largest centres of perinatal medical care in Hamburg, Germany. PPD was evaluated one month postpartum using standardized questionnaires and clinical interviews. Socioeconomic status, social support, risks during pregnancy, and psychiatric lifetime diagnoses were also assessed. A multiple random coefficient model was used to examine predictors of PPD in both parents simultaneously. RESULTS: 230 mothers and 173 fathers were included. Depending on the measure, the risk of being postnatally depressed was 4 to 18 times higher in mothers and 3 to 9 times higher in fathers from the index group. The most relevant risk factor for PPD was the birth of a VLBW infant, followed by female sex, lifetime psychiatric disorder, and low social support. LIMITATIONS: Results presented here, are based on cross sectional data. Therefore no temporal relationships can be established. CONCLUSIONS: Our findings highlight the importance of early screening for PPD in both parents of VLBW infants. Factors contributing to developing depression should also be considered in neonatal care.