Pattern of birth defects at a university teaching hospital in Northern Nigeria: Retrospective review over a decade

Background: Major birth defects are common causes of perinatal morbidity and mortality which have become a global phenomenon. Its occurrence in the developing nations like Nigeria requires due consideration most especially to its pattern and risk factors.Objectives: This review was conducted to determine the pattern of birth defects and investigate the factors associated with birth defects and its outcome at Aminu Kano Teaching Hospital (AKTH), Kano.Methods: This was a 10‑year retrospective study conducted in the Department of Obstetrics and Gynaecology and the Department of Paediatrics (Special Care Baby Unit) of AKTH, Kano, between April 2007 and March 2017. Data retrieved from patients’ file were collected using a purpose‑designed proforma to obtain information on the required parameters and analyzed using IBM SPSS version 20, 2009 software. Frequencies and percentages were calculated and the results were presented in tabular forms.Results: There were 6990 deliveries within the study period, out of which 305 babies had birth defects, giving a prevalence of 4.4%. Among women who delivered baby with birth defects, maternal age ranged from 16 to 45 years with a mean age of 30 ± 5 years. The highest incidence (48%) of birth defects occurred among the 26–35 years age group. Anomalies that affected single system are significantly higher than anomalies that affected multiple systems. A higher percentage (52.5%) of birth defects occurred in male neonates. The gastrointestinal system was the most commonly affected (32.5%), while musculoskeletal system was the least (3.75%) affected system. Drug intake among 120 mothers who delivered neonates with birth defects when considered as a risk factor was found to constitute 81% of traditional concoction/herbs; while 12.5% were orthodox and intake of social drug was found to be only 6.5%. Hypertension was found to be the highest chronic medical disorder, while chorioamnionitis following premature rupture of membrane was recorded as the most commonly occurring maternal infection. Sixty percent of these neonates with birth defects were managed conservatively, surgical treatment was given in 23.5%, while 16.5% underwent medical treatment. Discharge rate was 82.5%; 9% left against medical advice, while neonatal mortality rate was about 8.5% and a majority (91.8%) of the death occurred among the neonates with multiple birth defects.Conclusion: The prevalence of birth defect in AKTH was 4.4% of the total deliveries over the study period. Gastrointestinal system was found to be the most commonly affected system. Hypertensive disorders of pregnancy and ingestion of traditional herbs were found to be the most common medical disorder and drug intake, respectively, among the mothers who delivered neonates with birth defects. Although the outcome of the management was good, and the study could not establish direct causation, there is need to counsel  mothers on the inherent dangers of traditional herbs ingestion and the need to pay adequate attention to medical conditions in pregnancy.Keywords: Anomaly; birth defect; morbidity; neonate; prevalence rat

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Genetic studies on telomere length are important for understanding age-related diseases. Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally diverse individuals (European, African, Asian, and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole-genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n = 109,122 individuals. We identified 59 sentinel variants (p < 5 × 10−9) in 36 loci associated with telomere length, including 20 newly associated loci (13 were replicated in external datasets). There was little evidence of effect size heterogeneity across populations. Fine-mapping at OBFC1 indicated that the independent signals colocalized with cell-type-specific eQTLs for OBFC1 (STN1). Using a multi-variant gene-based approach, we identified two genes newly implicated in telomere length, DCLRE1B (SNM1B) and PARN. In PheWAS, we demonstrated that our TL polygenic trait scores (PTSs) were associated with an increased risk of cancer-related phenotypes

Observation of SO2 dry deposition velocity at a high elevation flux tower over an evergreen broadleaf forest in Central Taiwan

A 60-m flux tower was built on a 2100 m mountain for the measurement of the air pollutant concentration and the evaluation of dry deposition velocity in Central Taiwan. The tower was constructed in an evergreen broadleaf forest, which is the dominant species of forest in the world. Multiple-level SO2 concentrations and meteorological variables at the site were measured from February to April 2008. The results showed that the mean dry deposition velocities Of SO2 were 0.61 cm s(-1) during daytime and 0.27 cm s(-1) during nighttime. From the comparison of the monthly data, a tendency was observed that the dry deposition velocity increases with LAI and solar radiation. Furthermore, it was observed that the deposition velocity was larger over wet canopy than over dry canopy, and that higher deposition velocities in the wet season were mainly caused by non-stomatal uptake of wet canopy. Over wet canopy, the mean dry deposition velocities Of SO2 were estimated to be 0.83 cm s(-1) during daytime and 0.47 cm s(-1) during nighttime; and 0.44 cm s(-1) during daytime and 0.19 cm s(-1) during nighttime over dry canopy. There is good agreement between the results of this study and those in other studies and the predictions of Zhang et al. (2003a). The medians (geometric means) of derived r(c) during daytime are 233 (266) m s(-1) over dry canopy and 147 (146) m s(-1) over wet canopy. It was found that solar radiation is the critical important meteorological variable determining stomatal resistance during daytime. For non-stomatal resistance, clear dependencies were observed on the friction velocity and relative humidity. (C) 2009 Elsevier Ltd. All rights reserved

Synthesis of a reusable oxotungsten-containing SBA-15 mesoporous catalyst for the organic solvent-free conversion of cyclohexene to adipic acid

An oxotungsten-silica mesoporous structure (WSBA-15) has a hierarchical crystalline architecture in which the W dopants possess tetrahedral coordination geometries for the mixed-valence states W6+, W5+, and W4+. The WSBA-15 catalyst can be recycled-without any loss of activity-for the direct oxidation (30% H2O2,) of cyclohexene to colorless, crystalline adipic acid (55% yield) under organic solvent-free conditions. (C) 2006 Elsevier B.V. All rights reserved

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

INTRODUCTION: Recent data showed that long QT syndrome (LQTS) patients with mutations in the pore region of the HERG (LQT2) gene have significantly higher risk of cardiac events than subjects with mutations in the non-pore region. The aim of this study was to determine whether there is an association between the location of mutations in the KCNQ1 gene and cardiac events in LQT1 patients. METHODS AND RESULTS: The study population consisted of 294 LQT1 patients with KCNQ1 gene mutations. Demographic, clinical, and follow-up information was compared among subjects with different locations of KCNQ1 mutations defined as pre-pore region including N-terminus (1-278), pore region (279-354), and post-pore region including C-terminus (>354). Cardiac events observed during follow-up from birth until age of last contact or age 40 years were defined as syncope, cardiac arrest, or sudden death. There were 164 (56%) LQT1 patients with pre-pore mutations, 101 (34%) with pore mutations, and 29 (10%) with post-pore mutations. QTc duration did not differ significantly among the three subgroups (mean QTc = 494, 487, and 501 ms, respectively). There was no significant difference between groups with regard to the risk of cardiac events by age 40 years. CONCLUSION: There are no significant differences in clinical presentation, ECG parameters, and cardiac events among LQT1 patients with different locations of KCNQ1 mutations. These findings indicate that factors other than location of mutation influence clinical phenotype in patients with LQT1 mutations