Assessment of MTR Rs1805087 SNP as Possible Modifier of Sickle Cell Disease Severity in a Nigerian Population.

BACKGROUND: Sickle cell disease is the commonest genetic disorder in Nigeria, affecting 2-3% of an estimated population of 160 million people. The role of genetic mutations in folate cycle genes, and the variable phenotypic expressions constituting disease severity, needs to be critically examined. OBJECTIVE: This study was carried out to establish the pattern of methionine synthase gene mutations (rs1805087 SNP), and its possible association with disease severity in adults with sickle cell anaemia in Lagos, Nigeria. METHODOLOGY: This is a cross-sectional study of seventy (70) subjects with sickle cell disease (HbSS) matched for age and gender with known apparently healthy haemoglobin genotype AA (HbAA) subjects, as cases and controls respectively. Structured questionnaires were used to obtain demographic, clinical and other phenotypic data needed to compute disease severity. Pattern of MTR A2756G gene mutation and homocysteine assay (Hcy) were assessed by Polymerase Chain Reaction and Enzyme- linked Immunosorbent Assay respectively. Full blood count analysis of participants was done using the KX-21 Automated Analyzer (Sysmex Corporation, Japan). RESULTS: The mutant genotypes MTR 2756 AG/GG were recorded in 46.4% (n =55) of subjects with disease severity score >7. Elevated plasma homocysteine (HHcy) was significantly associated with disease severity among HbSS subjects (OR=17.2, CI: 3.490-86.079; p=0.0001). Conversely, no significant association was observed with the mutant genotypes MTR 2756 AG/GG and disease severity (p>0.05). CONCLUSION: While HHcy is significantly associated with phenotypic expression of HbSS, the MTR 2756 SNPs did not appear to independently influence homocysteine level or disease severity in HbSS subjects.

CONTEXTE: La drépanocytose est la maladie génétique la plus répandue au Nigeria, affectant 2 à 3 % d'une population estimée à 160 millions de personnes. Le rôle des mutations génétiques dans les gènes du cycle du folate, et les expressions phénotypiques variables constituant la gravité de la maladie, doivent être examinés de façon critique. OBJECTIF: Cette étude a été menée pour établir le schéma des mutations du gène de la méthionine synthase (rs1805087 SNP), et son association possible avec la gravité de la maladie chez les adultes atteints de drépanocytose à Lagos, au Nigeria. MÉTHODOLOGIE: Il s'agit d'une étude transversale de soixantedix (70) sujets atteints de drépanocytose (HbSS) appariés pour l'âge et le sexe avec des sujets connus apparemment sains de génotype d'hémoglobine AA (HbAA), comme cas et contrôles respectivement. Des questionnaires structurés ont été utilisés pour obtenir des données démographiques, cliniques et autres données phénotypiques nécessaires au calcul de la gravité de la maladie. Le profil de la mutation du gène MTR A2756G et le dosage de l'homocystéine (Hcy) ont été évalués respectivement par réaction en chaîne par polymérase et par test immunologique enzymatique. L'analyse de la formule sanguine complète des participants a été effectuée à l'aide de l'analyseur automatisé KX-21 (Sysmex Corporation, Japon). RÉSULTATS: Les génotypes mutants MTR 2756 AG/GG ont été enregistrés chez 46,4 % (n =55) des sujets présentant un score de gravité de la maladie > 7. L'homocystéine plasmatique élevée (HHcy) était significativement associée à la gravité de la maladie chez les sujets HbSS (OR=17,2, CI : 3,490­86,079 ; p=0,0001). À l'inverse, aucune association significative n'a été observée entre les génotypes mutants MTR 2756 AG/GG et la gravité de la maladie (p>0,05). CONCLUSION: Alors que l'HHcy est significativement associée à l'expression phénotypique de l'HbSS, les SNP MTR 2756 ne semblent pas influencer indépendamment le niveau d'homocystéine ou la gravité de la maladie chez les sujets HbSS.

KNOWLEDGE AND PERCEPTION OF INFERTILITY AMONG ADULT MALES IN IBADAN, NIGERIA.

Background: Infertility is a public health problem with significant social and psychological distress of the affected men due to the inability to achieve the desired social role of fatherhood. Men with infertility may experience lower life satisfaction, heightened distress and anxiety. This study assessed the knowledge, perception and factors influencing knowledge and perception of infertility among adult males in Ibadan, Nigeria. Methods: Cross-sectional descriptive survey was conducted among 388 adult males between April and November 2019 in the selected communities. Respondents were interviewed using a pretested structured questionnaire. Data was analysed with SPSS version 22. Descriptive and bivariate analyses were conducted. Level of significance was set at p≤5%. Results: The mean age of the respondents was 45.74±10.76 years. Majority were married 310(80%) and had tertiary education 234(60%). Less than half (48.7%) understood the correct meaning of infertility, 170(44%) agreed that witchcraft could cause infertility while 230(59%) disagreed that infertility could be prevented. Two hundred and sixty (67%) and 283 (73%) of the respondents had good knowledge and perception towards infertility respectively. Religion, education and income were statistically significant with knowledge of infertility (p<0.05). In addition, knowledge and perception of infertility showed statistically significant association (p<0.001). Conclusion: Knowledge and perception of respondents towards infertility was suboptimal in this study. Some cultural beliefs persist despite the high level of education of respondents. Community-based education on infertility to increase the knowledge and perception of men towards infertility is recommended.

Methylenetetrahydrofolate Reductase Enzyme Level and Antioxidant Activity in Women with Gestational Hypertension and Pre-eclampsia in Lagos, Nigeria.

BACKGROUND: Deficiencies of enzymes in the folate cycle may lead to the generation of homocysteine, a toxic metabolic intermediate with pro-oxidant effect and ability to induce oxidant stress and lipid peroxidation as part of the pathophysiological process in gestational hypertension (GH) and pre-eclampsia (PE). AIM: The aim of this study is to assess the reliability of plasma homocysteine (hcy) 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme and oxidative stress parameters as indicators of aetio-pathogenesis and severity of gestational hypertension and pre-eclampsia. SUBJECTS AND METHODS: This was a comparative cross-sectional study conducted over 6 months. Two hundred pregnant women were recruited from two sites. They were divided into gestation hypertension (n = 40), pre-eclampsia (n = 60) and control groups (n = 100). Parameters evaluated for statistical analysis were MTHFR enzyme level, plasma homocysteine and malondialdehyde (MDA) levels, with glutathione (GSH), superoxide dismutase (SOD) and catalase (CAT) activities. RESULTS: Mean plasma hcy level and MDA were significantly higher in pre-eclampsia and gestational hypertension when compared to control group (p < 0.05). However, MTHFR enzyme level, GSH, SOD and CAT were significantly higher in normotensive females when compared to PE and GH subgroups (p < 0.05). Pre-eclampsia was significantly associated with an increased risk of lipid peroxidation (OR = 4.923; p = 0.007). CONCLUSION: Pre-eclampsia and gestational hypertension are associated with marked homocysteine metabolic derangement and increased lipid peroxidation induced by oxidative stress and reduced MTHFR enzyme activity which may be the significant risk factors in the aetio-pathogenesis of GH and PE.

Training medical students: victim's perceptions of selectively screening women for intimate partner violence in health care settings.

BACKGROUND: Routine IPV screening is a controversial topic and there is no evidence to suggest that it improves the health outcomes of women. Consequently, understanding the socio-cultural dimensions, becomes essential to ensure that victims receive appropriate and local support. This study was conducted to gather the perceptions of victims of IPV on the relevance of raising the topic at health care facilities and to determine specific categories of women to target for screening by medical personnel. It also explored how the information gathered could support victims and whether medical students should be trained on issues relating to IPV. METHODS: Thirty-three key informant interviews were conducted among women attending clinics from three teaching hospitals in the Lagos, Oyo and Osun States of South West Nigeria. The hospitals offer antenatal, emergency, primary care and community outreach clinics which are well-attended by women. A six-item questionnaire assessed eligibility for participation in the study and participants were then purposively sampled. Interviews were conducted using a semi-structured guide. Ethical approval and gatekeepers' permissions were obtained, and each participant signed informed consent. Data was collected between June and November 2017. The data was entered into Excel and analysed deductively to answer each objective. RESULTS: Most (n = 24) participants stated that medical practitioners should ask all women who present to health care facilities, about their experiences of IPV. Physically, medically and socially vulnerable women, including those in relationships with men in risky occupations, were identified as needing special attention and possible follow-up. They supported the use of the information within and outside of the health care facility, depending on the need of the woman. The majority (n = 24) indicated a need to train medical students about IPV and 19 participants suggested for the topic to be curriculated. Most victims favoured the inclusion of a multidisciplinary team in teaching medical students about IPV. CONCLUSIONS: Victims of IPV were in support of initiatives to discuss the topic among some groups of female patients in health care settings. They thought it would enhance the quality of care (medical, psychological, legal and social) to victims. They identified an inter-professional team of stakeholders to include when training medical students about IPV.

Preparing medical students to recognize and respond to gender based violence in Nigeria.

BACKGROUND: Medical practitioners are ideally positioned to mitigate the impact of gender based violence (GBV) on the health of victims. However, there is a lack of information on students' ability and willingness to do so. OBJECTIVE: To identify factors which impact on students' attainment of the knowledge and perceived ability to manage victims. METHODS: A cross-sectional survey was conducted on 388 (91.5%) final year medical students from three medical schools in South West, Nigeria. RESULTS: Students were knowledgeable on sexual (63.7%) and physical (54.6%) forms of GBV and unfamiliar with other forms. The mean scores for knowledge (7.1 ± 2.5 out of 11); attitude (52.6 ± 10.3 out of 80); personal comfort (44.1 ± 10.0 out of 65) and skills (3.1 ± 2.6 out of 7) were calculated. Younger respondents, females and married students reported less skill to manage victims. The location of school, previous training and personal comfort remained significant determinants of students' self reported skills on GBV. Respondents with prior training on GBV and comfortable with managing patients, were four times more likely to perceive they were more skilled than their peers [AOR = 4.33, 95% CI: 2.37 - 7.90 and AOR 3.53; 95% CI 2.16-5.78 respectively]. CONCLUSION: Formalised skills training on GBV is a necessity, especially for young, female students and training cannot be left to serendipity. The medical curriculum should be reviewed.

Plasma D-dimer reference ranges in pregnant Nigerians.

BACKGROUND: The use of D-dimer as a screening test for thromboembolic disorders has not been validated in pregnancy thus necessitating further studies. This cross sectional study was carried out among Pregnant Nigerians at the Nigerian Air Force Hospital Antenatal Clinic, Ikeja, Lagos. OBJECTIVE: This study was to determine local reference ranges for plasma D-dimer in both pregnant and non-pregnant females and compare differences in both populations. METHODS: Structured questionnaires were administered on a total of 365 participants which included 71 apparently healthy non-pregnant females, 64 women in the first trimester of pregnancy (≤13 weeks gestation); 65 women at the second trimester of pregnancy (14-26 weeks), and 82 pregnant females at the third trimester of pregnancy (> = 27 weeks). Citrated blood was collected for estimation of prothrombin time (PT), activated partial thromboplastin time (aPTT), and D-dimer estimation by ELISA method. Aspartate aminotransferase (AST) and alanine aminotransferase enzymes (ALT) were estimated using the Hitachi chemistry analyzer. Reference ranges were estimated non-parametrically using the Reference Value Advisor V 2.1. RESULTS: Median D-dimer level for non-pregnant females was 190 ng/mL, while the median D-dimer levels for pregnant female in 1st, 2nd, and 3rd trimester were 485 ng/ml; 620 ng/mL; and 1185 ng/mL respectively.Reference ranges were calculated to be 86-494 ng/mL; 338-624 ng/mL; 451-799 ng/mL and 665-1262 ng/mL for non-pregnant females, 1st, 2nd, and 3rd trimester of pregnancy respectively. CONCLUSION: A diagnostic algorithm for venous thromboembolism (VTE) in pregnant women which combines clinical suspicion with elevated plasma D-dimers levels above estimated reference range for each trimester should precede definitive formal imaging.

Physical activity profile of senior civil servants in Lagos, Nigeria: need for effective strategies for improvement.

AIMS AND OBJECTIVES: To investigate the profile of physical activity (PA) among Lagos State senior civil servants (LSCSs). SUBJECTS AND METHODS: A cross-sectional survey in which 305 LSCSs (163 men, 142 women) with age range 25 65 years, in five ministries of the LSCS was carried out in May of 2011. The Global Physical Activity Questionnaire (GPAQ) was used to assess respondents' PA at work, for transport, and during leisure time during the last 7 days. RESULTS: Overall, 56.7% of the respondents (58.3% men and 54.9% women) were active; equivalent to 43.3% inactive respondents (41.7% men and 54.9% women). In spite of the high prevalence of physical inactivity in the women, gender was not significantly associated with PA levels (p = 0.718). However, the educational status and cadre of respondents were significantly associated with PA levels (p < 0.05). CONCLUSION: The findings of this study showed that close to half of LSCSs were physically inactive. There was no significant difference between the PA levels of men and women but educational status and cadre were associated with the PA levels of respondents. The results provided by this study suggests the need for the Lagos State government and stakeholders to formulate polices, plan programmes and interventions for LSCSs to get more physically active.

Prevention of dental caries: knowledge, practice and opinion of paediatricians in Lagos.

BACKGROUND: Dental caries is the most prevalent oral disease in children and this is preventable. Paediatricians are the first professionals whom children visit and are in good position to begin the process of prevention of dental caries if they recognize and encourage good preventive habits. OBJECTIVE: To determine the knowledge, practice and opinion of pediatricians in prevention of dental caries. MATERIALS AND METHODS: A cross sectional survey was undertaken among pediatricians in Lagos. Questionnaires were administered to pediatricians practicing in Teaching hospitals, general and private hospitals in Lagos. The questionnaire assessed their personal details, knowledge about caries, practice guidelines and opinion towards its prevention. RESULTS: Less than one-third (27.7%) of the pediatricians knew that bacteria causing caries can be transmitted from mother to child. Only about one-third (30.8 %) of the paediatricians examine children's teeth for dental caries. Majority (87.7%) were of the opinion that paediatricians have a role in promoting oral health. A total of 59% of the paediatricians had moderate knowledge, while (71%) of them had poor practice and their opinion for prevention of dental caries was positive in more than two-thirds of them (71%). CONCLUSION: We concluded that most paediatricians in Lagos had moderate knowledge, poor practice and lacked proper awareness about prevention of dental caries. Recommendation: we recommend that preventive dentistry topics in oral health promotion and prevention of dental caries be part of their postgraduate curriculum, continued dental health education programme for paediatricians, referral of related cases to paediatric dentists and oral health related topics be published in paediatric medical journals.