Novel <i>GREM1 </i>Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate

Objective: Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. Patients and Method: We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. Results: The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband with the p.Gly61Asp GREM1 variant is a van der Woude (VWS) case who also has an etiologic variant in IRF6 gene. Conclusion: Our study demonstrated that there is low number of etiologic coding variants in GREM1, confirming earlier suggestions that variants in regulatory elements may largely account for the association between this locus and CL/P. </jats:sec

Knowledge of transmission patterns of HIV/AIDS among students of tertiary institutions in Kwara State, Nigeria: Knowledge of transmission patterns of HIV/AIDS among students of tertiary institutions in Kwara State, Nigeria

This study investigated knowledge of transmission patterns of HIV/AIDS among students of tertiary institutions in Kwara State, Nigeria. A proportionate sampling technique was used to select 700 students from five tertiary institutions in Kwara State. The hypotheses formulated were tested using Chi-square and analysis of variance (ANOVA) at oc = 0.05 level of significance. In the findings, calculated X2 value of 124.69 revealed that the students have adequate knowledge about HIV/AIDS transmission through sexual contacts, also calculated x2 value of 67.83 revealed that students have adequate knowledge that HIV/AIDS can transmit through mother to child and the ANOVA result of 3.52 showed that students of various tertiary institutions in Kwara State have varied knowledge about HIV/AIDS transmission in health care setting. Fisher least significance difference was used as multiple range comparison test to identity where the significant difference between and within the group of students. Based on the findings, it was recommended that AIDS education to include STDs, sexuality and reproductive health education should be made compulsory and be incorporated into the syllabi and curricula from primary, secondary and tertiary institutions in Nigeria among others

When one door closes: a qualitative exploration of women’s experiences of access to sexual and reproductive health services during the COVID-19 lockdown in Nigeria

Abstract Background COVID-19 pandemic widely disrupted health services provision, especially during the lockdown period, with females disproportionately affected. Very little is known about alternative healthcare sources used by women when access to conventional health services became challenging. This study examined the experiences of women and adolescent girls regarding access to sexual and reproductive health (SRH) services during the COVID-19 lockdown in Nigeria and their choices of alternative healthcare sources. Methods The study sites were two northern states, two southern states, and the Federal Capital Territory. Qualitative data were obtained through 10 focus group discussion sessions held with married adolescents, unmarried adolescents, and older women of reproductive age. The data were transcribed verbatim and analysed using a thematic approach and with the aid of Atlas ti software. Results Women reported that access to family planning services was the most affected SRH services during the COVID-19 lockdown. Several barriers to accessing SRH services during COVID-19 lockdown were reported, including restriction of vehicular movement, harassment by law enforcement officers, fear of contracting COVID-19 from health facilities, and fear of undergoing compulsory COVID-19 tests when seeking care in health facilities. In the face of constrained access to SRH services in public sector facilities during the COVID-19 lockdown, women sought care from several alternative sources, mostly locally available and informal services, including medicine vendors, traditional birth attendants, and neighbours with some health experience. Women also widely engaged in self-medication, using both orthodox drugs and non-orthodox preparations like herbs. The lockdown negatively impacted on women’s SRH, with increased incidence of sexual- and gender-based violence, unplanned pregnancy resulting from lack of access to contraceptives, and early marriage involving adolescents with unplanned pregnancies. Conclusion COVID-19 negatively impacted access to SRH services and forced women to utilise mostly informal service outlets and home remedies as alternatives to conventional health services. There is a need to ensure the continuity of essential SRH services during future lockdowns occasioned by disease outbreaks. Also, community systems strengthening that ensures effective community-based health services, empowered community resource persons, and health-literate populations are imperative for overcoming barriers to healthcare access during future lockdowns