Outcome of Combined Trabeculotomy-Trabeculectomy in Eyes of Nigerian Children with Primary Congenital Glaucoma.

PURPOSE: To report the outcome of combined trabeculotomy-trabeculectomy among children with primary congenital glaucoma at a child eye health tertiary facility in southwest Nigeria. METHODS: A retrospective review of children who underwent combined trabeculotomy-trabeculectomy (CTT) surgery on account of primary congenital glaucoma between 2016 and 2020 at the University College Hospital, Ibadan, Nigeria. All surgeries were performed by paediatric ophthalmologists. The main outcome measures were postoperative intraocular pressure, corneal clarity, and complications. RESULTS: A total of 21 eyes of 13 patients were included. Ten (76.9%) of the patients were males and 8 (61.5%) had bilateral disease. The mean age at presentation was 4.8 (± 3.6) months, while the mean age at surgery was 8.1 (± 5.9) months. The average waiting time between noticing symptoms and presenting to the clinic was 3.2 (±4.9) months. The mean horizontal corneal diameter was 13.2 (± 1.4) mm, while the mean pre-operative intraocular pressure (IOP) was 25.7 (± 8.6) mmHg. The surgical success (IOP<21 mmHg) rates at 3, 6, and 12 months were 86.7%, 64.3%, and 92.9% respectively. The Kaplan-Meier estimates of the probability that IOP remained below 21 mmHg up till 3, 6, and 12 months were 74%, 53%, and 53% respectively. Postoperatively, 85.7% of the eyes had complete resolution of corneal oedema. One eye had an intraoperative complication of vitreous loss. The post-operative clinic follow-up rate reduced to 52.4% by 1 year. CONCLUSION: Combined trabeculotomy-trabeculectomy is a relatively safe procedure that is associated with favorable success in Nigerian children with primary congenital glaucoma.

OBJECTIF: Présenter le résultat de la combinaison de la trabeculotomie et la trabeculectomie chez les enfants atteints de glaucome congénital primitif dans un hôpital tertiaire du sud-ouest du Nigéria. METHODES: Une revue rétrospective des enfants qui avaient subi une combinaison de trabeculotomie et trabeculectomie pour le traitement de glaucome congénital primitif entre 2016 et 2020 à l'University College Hospital,Ibadan, Nigeria. Toutes les chirurgies avaient été effectuées par des ophtalmologistes pédiatres. Les principaux résultats étaient la pression intraoculaire postopératoire, la clarté cornéenne et les complications. RESULTATS: Au total 21 yeux de 13 patients étaient étudiés. Dix (76,9%) patients étaient des garçons et 8 (61,5%) avaient une atteinte bilatérale. La moyenne d'age à la présentation était de 4,8 (± 3,6) mois, tandis que la moyenne d'age au moment de la chirurgie était de 8,1 (± 5,9) mois. Le temps d'attente moyen entre l'observation des symptômes et la présentation à la consultation était de 3,2 (± 4,9) mois. Le diamètre cornéen horizontal moyen était de 13,2 (± 1,4) mm, tandis que la pression intraoculaire (PIO) préopératoire moyen était de 25,7 (± 8,6) mmHg. Les taux de succès chirurgical (PIO <21 mmHg) à 3, 6 et 12 mois étaient respectivement de 86,7%, 64,3% et 92,9% . Les estimations de Kaplan-Meier de la probabilité que la PIO restait en dessous de 21 mmHg jusqu'à 3, 6 et 12 mois était respectivement 74%, 53% et 53%. Après l'opération, 85,7% des yeux avaient une résolution complète de l'œdème cornéen. Un œil avait une complication peropératoire de perte de vitré. Le taux de visites médicales en postopératoire était réduit à 52,4% en 1 an. CONCLUSION: La combinaison de la trabeculotomie et de la trabeculectomie est une procedure chirurgicale relativement sûre associée à un succès favorable chez les enfants Nigérians atteints de glaucome congénital primitif. Mots clés: Glaucome congenital, Trabeculotomie et Trabeculectomie, Résultat chirurgical, Pression intraoculaire.

Effect of Perioperative Tranexamic Acid on Blood Loss following Open Simple Prostatectomy: A Prospective Review in Nigerian Men.

BACKGROUND: Haemorrhage is a common complication following open simple prostatectomy and patients may sometimes require a blood transfusion. Tranexamic acid has been shown to reduce blood loss following transurethral resection of the prostate and open radical prostatectomy. This study evaluated the effect of perioperative intravenous administration of tranexamic acid on blood loss and blood transfusion rates in patients who had OSP for benign prostatic enlargement. METHODOLOGY: This was a comparative study of patients with documented prostate glands 60g and above scheduled for OSP. Initial hematocrit was done a day before surgery. The patients were randomized into a tranexamic acid group, which received perioperative intravenous tranexamic acid and the no-TXA group which received placebo (0.9% saline). All patients had open simple retropubic prostatectomy. Final post-operative hematocrit was assessed 72 hours after surgery, and blood loss was calculated using the modified Gross formula (actual blood loss = estimated blood volume x change in hematocrit / mean hematocrit). The transfusion rate was documented. RESULTS: Fifty-six patients participated in this study and were randomized into a tranexamic acid group and no-tranexamic acid group. The mean age of patients in the tranexamic acid group was 66.07 ±7.08 years and was comparable to the no- tranexamic acid group which was 66.50 ± 8.80 years (P = 0.842). The median total blood loss was lower in the tranexamic acid group (502mls, IQR 613) compared to the no-tranexamic acid group (801mls, IQR 1069). The difference in the median blood loss between the two groups was 299mls (U 275, P 0.055). The rate of blood transfusion was lower in the tranexamic acid group (6 patients, 21%) compared to the no tranexamic acid group (11 patients, 39%), (P = 0.146). There was no difference in complication rates between the two groups. CONCLUSION: The use of tranexamic acid in patients undergoing open simple prostatectomy showed a trend towards reduced intraoperative blood loss and less need no tranexamic for blood transfusion. This is of clinical significance, especially in elderly patients with low cardiovascular reserve.

CONTEXTE: L'hémorragie est une complication courante après une prostatectomie simple ouverte et les patients doivent parfois recevoir une transfusion sanguine. Il a été démontré que l'acide tranexamique réduit la perte de sang après une résection transurétrale de la prostate et une prostatectomie radicale ouverte. Cette étude a évalué l'effet de l'administration intraveineuse périopératoire d'acide tranexamique sur les pertes sanguines et les taux de transfusion sanguine chez des patients ayant subi une PSO pour hypertrophie bénigne de la prostate. MÉTHODOLOGIE: Il s'agissait d'une étude comparative de patients dont la prostate de 60 g et plus était documentée et qui devaient subir une PSO. L'hématocrite de base a été effectué un jour avant la chirurgie. Les patients ont été répartis aléatoirement dans le groupe acide tranexamique, qui a reçu de l'acide tranexamique periopératoire par voie intraveineuse, et dans le groupe sans TXA, qui a reçu un placebo. Tous les patients ont subi une prostatectomie rétropubienne simple ouverte. L'hématocrite postopératoire a été évalué, et la perte de sang calculée à l'aide de la formule de Gross modifiée. Le taux de transfusion a été documenté. RÉSULTATS: Cinquante-six patients ont participé à cette étude et ont été randomisés entre le groupe avec acide tranexamique et le groupe sans acide tranexamique. L'âge moyen des patients du groupe acide tranexamique était de 66,07 ±7,08 ans et était comparable à celui du groupe sans acide tranexamique qui était de 66,50 ± 8,80 ans (P =0,842). La perte sanguine totale médiane était plus faible dans le groupe avec acide tranexamique (502 ml, IQR 613) que dans le groupe sans acide tranexamique (801 ml, IQR 1069). La différence de la perte de sang médiane entre les deux groupes était de 299 ml (U 275, P 0,055). Le taux de transfusion sanguine était inférieur dans le groupe acide tranexamique (6 patients, 21%) par rapport au groupe sans acide tranexamique (11 patients, 39%), (P =0,146). Il n'y avait pas de différence dans les taux de complication entre les deux groupes. CONCLUSION: L'utilisation de l'acide tranexamique chez les patients subissant une prostatectomie simple ouverte a montré une tendance à la réduction de la perte de sang peropératoire et un besoin moindre de transfusion sanguine. Mots clés: Hypertrophie bénigne de la prostate, Prostatectomie simple ouverte, Hémorragie, Acide tranexamique.

Addressing Unmet Surgical Needs in an Underserved Nigerian Community: Report of a 'Town and Gown' Initiative.

BACKGROUND: Access to quality and timely care prevents unnecessary deaths and morbidity from potentially curable surgical diseases. This study describes the magnitude of unmet surgical needs in a Nigerian community and describes the experiences garnered during a surgical outreach organized by a tertiary institution in an underserved community. METHODS: This is a descriptive study highlighting details of a surgical outreach to a community in south-Western part of Nigeria. The project was based on a collaboration between a University Teaching Hospital (gown) and the community (town). Details of the patients' demographic and disease characteristics as well as barriers to seeking medical care were obtained. The operational workflow, treatment offered, and outcomes are highlighted. Results are presented as descriptive statistics. RESULTS: Over a two-day period, 83 out of 3,056 patients who were screened had surgically treatable conditions (2.7%), predominantly hernias (37, 46.6%), goitres (13, 15.7%) and soft tissue swellings (9, 10.8%). The majority were adults (56, 67.5%) while 27 (32.5%) were in the paediatric age group. The mean duration of symptoms was 8.64 months ± 9.5 months. About half of the patients (46.9%) had never visited a medical facility on account of their index illnesses. Lack of funds was cited by many patients as the main reason for having not presented at a hospital. Sixty-three surgical operations were performed with no peri-operative adverse events. CONCLUSION: Lack of financial access was the major barrier to surgical care in the sampled community. Moving from 'gown to town' helped address a significant proportion of the unmet needs over a relatively short period. Tertiary hospitals can provide surgical oversight to communities within their jurisdiction using this approach.

CONTEXTE: L'accès à des soins de qualité et en temps opportun permet d'éiter les décès et la morbidité inutiles dus à des maladies chirurgicales potentiellement curables. Cette étude décrit l'ampleur des besoins chirurgicaux non satisfaits dans une communauté nigériane et décrit les expériences recueillies au cours d'une action chirurgicale organisée par une institution tertiaire dans une communauté mal desservie. MÉTHODES: Il s'agit d'une étude descriptive mettant en évidence les détails d'une action chirurgicale dans une communauté du sud-ouest du Nigeria. Le projet était basé sur une collaboration entre un hôpital universitaire (ville) et la communauté (ville). Les détails des caractéristiques démographiques et pathologiques des patients ainsi que les obstacles à la recherche de soins médicaux ont été obtenus. Le déroulement des opérations, le traitement proposé et les résultats sont mis en évidence. Les résultats sont présentés sous forme de statistiques descriptives. RÉSULTATS: Sur une période de deux jours, 83 des 3056 patients examinés présentaient des affections pouvant être traitées chirurgicalement (2,7 %), principalement des hernies (37, 46,6 %), des goitres (13, 15,7 %) et des tuméfactions des tissus mous (9, 10,8 %). La majorité des patients étaient des adultes (56, 67,5 %), tandis que 27 (32,5 %) appartenaient au groupe d'âge pédiatrique. La durée moyenne des symptômes était de 8,64 mois ±9,5 mois. Environ la moitié des patients (46,9 %) ne s'étaient jamais rendus dans un établissement médical en raison de leurs maladies index. Le manque de moyens financiers a été cité par de nombreux patients comme la principale raison pour laquelle ils ne s'étaient pas présentés à l'hôpital. Soixante-trois opérations chirurgicales ont été réalisées sans aucun événement indésirable périopératoire. CONCLUSION: Le manque d'accès financier était le principal obstacle aux soins chirurgicaux dans la communauté échantillonnée. Le passage de la ville à l'hôpital a permis de répondre à une proportion importante des besoins non satisfaits sur une période relativement courte. Les hôpitaux tertiaires peuvent fournir une supervision chirurgicale aux communautés de leur juridiction en utilisant cette approche. Mots clés: Chirurgie, Besoins non satisfaits, Nigeria, Communauté mal desservie.

Novel GREM1 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.

Effects of Community Health Nurse-Led Intervention on Childhood Routine Immunization Completion in Primary Health Care Centers in Ibadan, Nigeria.

Immunization coverage of vulnerable children is often sub-optimal in many low- and middle-income countries. The use of a reminder/recall (R/R) system has been one of the strategies shown to be effective in improving immunization rates. In the resent study, we evaluated the effect of R/R and Primary Health Care Immunization Providers' Training (PHCIPT) intervention on routine immunization completion among 595 infants in Ibadan, Nigeria. The design was a group randomized controlled trial with Local Government Area (LGA) being the unit of randomization. Four randomly selected LGAs were randomized to receive a cellphone R/R only (A), a PHCIPT only (B); combined R/R and PHCIPT (C) intervention or serve as a control group (D). Children aged 0-12 weeks were consecutively recruited into each group and followed up for 12 months. The primary outcome measure was routine immunization completion at 12 months of age. At the study endpoint, immunization completion rates were: group A, 98.6 %; group B, 70 %; group C, 97.3 %; and group D, 57.3 %. Compared to the control group, the cellphone R/R group was 72 % (RR 1.72, 95 % CI 1.50-1.98) and the combined RR/PHCIPT group 70 % (RR 1.70, 95 % CI 1.47-1.95) more likely to complete immunization. In contrast, immunization completion in the PHCIPT group was marginally different from the control group (RR 1.22, 95 % CI 1.03-1.45). These findings remained robust to adjustment for potential predictors of immunization completion as covariates. In conclusion, cellphone reminder/recall was effective in improving immunization completion in this Nigerian setting. Its use is recommended for large scale implementation.

Pharmacogenomics, ancestry and clinical decision making for global populations.

Pharmacogenomically relevant markers of drug response and adverse drug reactions are known to vary in frequency across populations. We examined minor allele frequencies (MAFs), genetic diversity (FST) and population structure of 1156 genetic variants (including 42 clinically actionable variants) in 212 genes involved in drug absorption, distribution, metabolism and excretion (ADME) in 19 populations (n=1478). There was wide population differentiation in these ADME variants, reflected in the range of mean MAF (ΔMAF) and FST. The largest mean ΔMAF was observed in African ancestry populations (0.10) and the smallest mean ΔMAF in East Asian ancestry populations (0.04). MAFs ranged widely, for example, from 0.93 for single-nucleotide polymorphism (SNP) rs9923231, which influences warfarin dosing to 0.01 for SNP rs3918290 associated with capecitabine metabolism. ADME genetic variants show marked variation between and within continental groupings of populations. Enlarging the scope of pharmacogenomics research to include multiple global populations can improve the evidence base for clinical translation to benefit all peoples.

Multidrug-resistant human mycobacterium tuberculosis strain resisted inactivation by 10% formalin.

Multidrug-resistant strain of Mycobacterium tuberculosis (MDR-Tb) and Multidrug-sensitive Mycobacterium tuberculosis (MDS-Tb) isolated from humans were injected subcutaneously into the guinea pigs. One set of infected lungs of animals was fixed in 10% formalin pH7.2, while the other set was treated with 75% ethanol 2 hours prior to fixation in 10% formalin. After six months of fixation, MDS-Tb strains were completely inactivated by both methods of fixation. MDR-Tb strains resisted inactivation by 10% formalin, but were inactivated by the treatment with 75% ethanol 2 hours prior to 10% formalin fixation. MDR-Tb was still viable after six months in tissue preserved in 10% formalin only. Pretreatment of tissue with 75% ethanol prior to preservation in 10% formalin gave a better safety precaution against MDR-Tb in tissue. Of the 50 infected patients studied during the period, 4 (8%) haboured MDR-Tb, while 46 (92%) carried MDS-Tb.

ASYMPTOMATIC BACTERIURIA AS A PREDICTOR OF PRE-ECLAMPSIA: A CASECONTROLLED STUDY.

Background: Pre-eclampsia, an important cause of maternal and perinatal morbidity and mortality world-wide has been linked to subclinical infections, with maternal infection and inflammation postulated in its aetio-pathogenesis including asymptomatic bacteriuria which is common in pregnancy. The Obejctive of the study is to determine the relationship of asymptomatic bacteriuria as a risk factor for pre-eclampsia. Methodology: A hospital-based case-control study among 28 pre-eclamptic pregnant women (cases) and 56 healthy pregnant women (controls) at gestational age of at least 28 weeks at the University College Hospital, Ibadan, between January 2019 and August 2019. Controls were matched with cases in age, parity and gestational age. Asymptomatic bacteriuria was determined with mid-stream urine analysis for microscopy and culture and data collected using an interviewer administered questionnaire with other details from medical records extracts. Chi- square, and multivariate regression analysis were used to assess statistical significance, odds ratio and adjusted odds ratio respectively, with P-value <0.05 and 95% confidence interval (CI). Results: There was a significant association between asymptomatic bacteriuria and pre-eclampsia. The rate of asymptomatic bacteriuria was about three times higher in women with pre-eclampsia compared to those without pre-eclampsia and 1.23 times higher after adjusting for confounders (OR: 2.9, AOR:1.23). There was no significant relationship between sterile pyuria and pre-eclampsia (p-value: 0.92). Conclusion: This study supports the proposition that asymptomatic bacteriuria is a risk factor for pre-eclampsia. It has not however shown whether the association is causal or casual. Further studies will be needed to explain this.

Paediatric paranasal sinus fibrous dysplasia.

Fibrous dysplasia in the bony walls of a paranasal sinus is a developmental tumour that is associated with a marked facial deformity. Delay in hospital presentation contributes to the destructive resection techniques employed and the management outcome. Our study looks at the factors for delay in hospital presentation and the management outcome by a retrospective review between January 1997 and December 2018. Of 43 children (M: F 1:1.2) with a mean age of 12 ± 1.75 years, the maxillary bones were mostly affected. All underwent surgical resection with good management outcomes except for maxillectomy. Tumour recurrence was noted in five and there was no mitotic cell at histology. The clinical symptoms of fibrous dysplasia vary in severity and age of onset, often with late hospital presentation already with complications. Health education is needed to reverse this trend.

Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource.

AIMS/HYPOTHESIS: Hyperglycaemia disproportionately affects African-Americans (AfAs). We tested the transferability of 18 single-nucleotide polymorphisms (SNPs) associated with glycaemic traits identified in European ancestry (EuA) populations in 5,984 non-diabetic AfAs. METHODS: We meta-analysed SNP associations with fasting glucose (FG) or insulin (FI) in AfAs from five cohorts in the Candidate Gene Association Resource. We: (1) calculated allele frequency differences, variations in linkage disequilibrium (LD), fixation indices (F(st)s) and integrated haplotype scores (iHSs); (2) tested EuA SNPs in AfAs; and (3) interrogated within ± 250 kb around each EuA SNP in AfAs. RESULTS: Allele frequency differences ranged from 0.6% to 54%. F(st) exceeded 0.15 at 6/16 loci, indicating modest population differentiation. All iHSs were <2, suggesting no recent positive selection. For 18 SNPs, all directions of effect were the same and 95% CIs of association overlapped when comparing EuA with AfA. For 17 of 18 loci, at least one SNP was nominally associated with FG in AfAs. Four loci were significantly associated with FG (GCK, p = 5.8 × 10(-8); MTNR1B, p = 8.5 × 10(-9); and FADS1, p = 2.2 × 10(-4)) or FI (GCKR, p = 5.9 × 10(-4)). At GCK and MTNR1B the EuA and AfA SNPs represented the same signal, while at FADS1, and GCKR, the EuA and best AfA SNPs were weakly correlated (r(2) <0.2), suggesting allelic heterogeneity for association with FG at these loci. CONCLUSIONS/INTERPRETATION: Few glycaemic SNPs showed strict evidence of transferability from EuA to AfAs. Four loci were significantly associated in both AfAs and those with EuA after accounting for varying LD across ancestral groups, with new signals emerging to aid fine-mapping.

Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.

Risk loci identified through genome-wide association studies have explained about 25% of the phenotypic variations in nonsyndromic orofacial clefts (nsOFCs) on the liability scale. Despite the notable sex differences in the incidences of the different cleft types, investigation of loci for sex-specific effects has been understudied. To explore the sex-specific effects in genetic etiology of nsOFCs, we conducted a genome-wide gene × sex (GxSex) interaction study in a sub-Saharan African orofacial cleft cohort. The sample included 1,019 nonsyndromic orofacial cleft cases (814 cleft lip with or without cleft palate and 205 cleft palate only) and 2,159 controls recruited from 3 sites (Ethiopia, Ghana, and Nigeria). An additive logistic model was used to examine the joint effects of the genotype and GxSex interaction. Furthermore, we examined loci with suggestive significance (P < 1E-5) in the additive model for the effect of the GxSex interaction only. We identified a novel risk locus on chromosome 8p22 with genome-wide significant joint and GxSex interaction effects (rs2720555, p2df = 1.16E-08, pGxSex = 1.49E-09, odds ratio [OR] = 0.44, 95% CI = 0.34 to 0.57). For males, the risk of cleft lip with or without cleft palate at this locus decreases with additional copies of the minor allele (p < 0.0001, OR = 0.60, 95% CI = 0.48 to 0.74), but the effect is reversed for females (p = 0.0004, OR = 1.36, 95% CI = 1.15 to 1.60). We replicated the female-specific effect of this locus in an independent cohort (p = 0.037, OR = 1.30, 95% CI = 1.02 to 1.65), but no significant effect was found for the males (p = 0.29, OR = 0.86, 95% CI = 0.65 to 1.14). This locus is in topologically associating domain with craniofacially expressed and enriched genes during embryonic development. Rare coding mutations of some of these genes were identified in nsOFC cohorts through whole exome sequencing analysis. Our study is additional proof that genome-wide GxSex interaction analysis provides an opportunity for novel findings of loci and genes that contribute to the risk of nsOFCs.

Replication of genome-wide association studies (GWAS) loci for fasting plasma glucose in African-Americans.

AIMS/HYPOTHESIS: Chronically elevated blood glucose (hyperglycaemia) is the primary indicator of type 2 diabetes, which has a prevalence that varies considerably by ethnicity in the USA, with African-Americans disproportionately affected. Genome-wide association studies (GWASs) have significantly enhanced our understanding of the genetic basis of diabetes and related traits, including fasting plasma glucose (FPG). However, the majority of GWASs have been conducted in populations of European ancestry. Thus, it is important to conduct replication analyses in populations with non-European ancestry to identify shared loci associated with FPG across populations. METHODS: We used data collected from non-diabetic unrelated African-American individuals (n = 927) who participated in the Howard University Family Study to attempt to replicate previously published GWASs of FPG. Of the 29 single nucleotide polymorphisms (SNPs) previously reported, we directly tested 20 in this study. In addition to the direct test, we queried a 500 kb window centred on all 29 reported SNPs for local replication of additional markers in linkage disequilibrium (LD). RESULTS: Using direct SNP and LD-based comparisons, we replicated multiple SNPs previously associated with FPG and strongly associated with type 2 diabetes in populations with European ancestry. The replicated SNPs included those in or near TCF7L2, SLC30A8, G6PC2, MTNR1B, DGKB-TMEM195 and GCKR. We also replicated additional variants in LD with the reported SNPs in ZMAT4 and adjacent to IRS1. CONCLUSIONS/INTERPRETATION: We identified multiple GWAS variants for FPG in our cohort of African-Americans. Using an LD-based strategy we also identified SNPs not previously reported, demonstrating the utility of using diverse populations for replication analysis.

EVOLVING TELEMEDICINE PRACTICE: EXPERIENCES OF HEALTH CARE WORKERS DURING COVID-19 PANDEMIC.

BACKGROUND: Telemedicine is employed in patient care when direct physical contact is not possible or discouraged, as was seen during the COVID-19 pandemic. The use of smartphone technology could make telemedicine affordable and available in low and medium-income countries (LMICs). However, the evolution of telemedicine care depends on multiple factors. AIM: To explore the practice of telemedicine by Nigerian health care workers (HCWs) during the COVID-19 pandemic. METHODS: A cross-sectional study of the Nigerian HCWs on telemedicine practice in patient care during the COVID-19 pandemic period. Recruitment of respondents was done through dedicated WhatsApp and Telegram social media platforms for HCWs over a period of 40 days (May 1st and June 10th, 2020). RESULTS: A total of 481 HCWs participated in the study consisting of 153(31.8%) doctors, 150(31.2%) nurses and 178(37%) other HCWs. Though 89.2% of the HCWs agreed that telemedicine is important, it was only 266 (55.3%) that practiced telemedicine, phone consultation was the form of telemedicine used in all the health institutions. Telemedicine was practiced more by doctors 91(18.9%), nurses 79(16.4%) and pharmacists 35(7.3%) than other groups of health care workers. Inadequate COVID-19 screening test and lack of personal protective equipment were strong motivators for the attending HCWs to practice telemedicine. CONCLUSION: There was widespread use of phone consultation by all cadres of health care workers during the pandemic. Hence there should be a health policy that will encourage greater use and acceptance of telemedicine in clinical practice and in the patients care beyond the pandemic period.

Lying about facial recognition: an fMRI study.

Novel deception detection techniques have been in creation for centuries. Functional magnetic resonance imaging (fMRI) is a neuroscience technology that non-invasively measures brain activity associated with behavior and cognition. A number of investigators have explored the utilization and efficiency of fMRI in deception detection. In this study, 18 subjects were instructed during an fMRI "line-up" task to either conceal (lie) or reveal (truth) the identities of individuals seen in study sets in order to determine the neural correlates of intentionally misidentifying previously known faces (lying about recognition). A repeated measures ANOVA (lie vs. truth and familiar vs. unfamiliar) and two paired t-tests (familiar vs. unfamiliar and familiar lie vs. familiar truth) revealed areas of activation associated with deception in the right MGF, red nucleus, IFG, SMG, SFG (with ACC), DLPFC, and bilateral precuneus. The areas activated in the present study may be involved in the suppression of truth, working and visuospatial memories, and imagery when providing misleading (deceptive) responses to facial identification prompts in the form of a "line-up".

DENTURE IMPACTION IN THE OESOPHAGUS: CORRELATION OF SITE AND DURATION OF IMPACTION WITH SEQUELAE.

BACKGROUND: Denture restores aesthesis and function of missing teeth. Accidentally swallowed denture is an otorhinolaryngology emergency. The types of denture base and oesophageal anatomy infuluence the site of impaction. OBJECTIVE: To review site of denture impaction and factors associated with site of impaction. To correlate site and duration of denture impaction before removal with associated sequelae. METHOD: A retrospective study of 27 patients managed in Otorhinolaryngology Department of University College Hospital Ibadan, Nigeria for oesophageal partial denture impaction, between August 2006 and September 2016. The demographic and clinical data of the patients were extracted from the hospital records, and statistical tables were used to illustrate the data. RESULTS: A total of 27 patients; 14(51.9%) males and 13(48.1%) females, (M: F, 1.1:1) were studied. The age ranged from 24 to 77 years (mean age 49.0 ± 14.2years). Dentures were worn for 3 to 30 years (mean 3.8 ± 2.3years) without follow-up visit to dentist and 85.2% were upper dentures. All patients had history of accidental ingestion of denture, and the mean site of impaction was 18.2 ± 3.2cm from upper incisor, typically at upper cervical oesophagus in elderly patients and in lower oesophagus in females. There was no association between site of denture impaction, duration of denture impaction and operative findings. CONCLUSION: Advanced age and female gender are associated with site of denture impaction. Late hospital presentation significantly promotes sequelae associated with management of impacted dentures. It is recommended that fundamental changes in denture designs, education on regular follow-ups and avoidance of ill-fitting dentures would reduce the prevalence of denture impaction.

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

OBJECTIVE: To evaluate brain metabolism in subjects with partial ornithine transcarbamylase deficiency (OTCD) utilizing (1)H MRS. METHODS: Single-voxel (1)H MRS was performed on 25 medically-stable adults with partial OTCD, and 22 similarly aged controls. Metabolite concentrations from frontal and parietal white matter (FWM, PWM), frontal gray matter (FGM), posterior cingulate gray matter (PCGM), and thalamus (tha) were compared with controls and IQ, plasma ammonia, glutamine, and disease severity. RESULTS: Cases ranged from 19 to 59 years; average 34 years; controls ranged from 18 to 59 years; average 33 years. IQ scores were lower in cases (full scale 111 vs. 126; performance IQ 106 vs. 117). Decreased myoinositol (mI) in FWM (p=0.005), PWM (p<0.001), PCGM (p=0.003), and tha (p=0.004), identified subjects with OTCD, including asymptomatic heterozygotes. Glutamine (gln) was increased in FWM (p<0.001), PWM (p<0.001), FGM (p=0.002), and PCGM (p=0.001). Disease severity was inversely correlated with [mI] in PWM (r=-0.403; p=0.046) and directly correlated with [gln] in PCGM (r=0.548; p=0.005). N-Acetylaspartate (NAA) was elevated in PWM (p=0.002); choline was decreased in FWM (p=0.001) and tha (p=0.002). There was an inverse relationship between [mI] and [gln] in cases only. Total buffering capacity (measured by [mI/mI+gln] ratio, a measure of total osmolar capacity) was inversely correlated with disease severity in FWM (r=-0.479; p=0.018), PWM (r=-0.458; p=0.021), PCGM (r=-0.567; p=0.003), and tha (r=-0.345; p=0.037). CONCLUSION: Brain metabolism is impaired in partial OTCD. Depletion of mI and total buffering capacity are inversely correlated with disease severity, and serve as biomarkers.

Cardiac diastolic function after recovery from pre-eclampsia.

BACKGROUND: Pre-eclampsia is associated with significant changes to the cardiovascular system during pregnancy. Eccentric and concentric remodelling of the left ventricle occurs, resulting in impaired contractility and diastolic dysfunction. It is unclear whether these structural and functional changes resolve completely after delivery. AIMS: The objective of the study was to determine cardiac diastolic function at delivery and one year post-partum in women with severe pre-eclampsia, and to determine possible future cardiovascular risk. METHODS: This was a descriptive study performed at Steve Biko Academic Hospital, a tertiary referral hospital in Pretoria, South Africa. Ninety-six women with severe preeclampsia and 45 normotensive women with uncomplicated pregnancies were recruited during the delivery admission. Seventy-four (77.1%) women in the pre-eclamptic group were classified as a maternal near miss. Transthoracic Doppler echocardiography was performed at delivery and one year post-partum. RESULTS: At one year post-partum, women with pre-eclampsia had a higher diastolic blood pressure (p = 0.001) and body mass index (p = 0.02) than women in the normotensive control group. Women with early onset pre-eclampsia requiring delivery prior to 34 weeks' gestation had an increased risk of diastolic dysfunction at one year post-partum (RR 3.41, 95% CI: 1.11-10.5, p = 0.04) and this was irrespective of whether the patient had chronic hypertension or not. CONCLUSION: Women who develop early-onset pre-eclampsia requiring delivery before 34 weeks are at a significant risk of developing cardiac diastolic dysfunction one year after delivery compared to normotensive women with a history of a low-risk pregnancy.

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

In contrast to the progress that has been made toward understanding the genetic etiology of cleft lip with or without cleft palate, relatively little is known about the genetic etiology for cleft palate only (CPO). A common coding variant of grainyhead like transcription factor 3 ( GRHL3) was recently shown to be associated with risk for CPO in Europeans. Mutations in this gene were also reported in families with Van der Woude syndrome. To identify rare mutations in GRHL3 that might explain the missing heritability for CPO, we sequenced GRHL3 in cases of CPO from Africa. We recruited participants from Ghana, Ethiopia, and Nigeria. This cohort included case-parent trios, cases and other family members, as well as controls. We sequenced exons of this gene in DNA from a total of 134 nonsyndromic cases. When possible, we sequenced them in parents to identify de novo mutations. Five novel mutations were identified: 2 missense (c.497C>A; p.Pro166His and c.1229A>G; p.Asp410Gly), 1 splice site (c.1282A>C p.Ser428Arg), 1 frameshift (c.470delC; p.Gly158Alafster55), and 1 nonsense (c.1677C>A; p.Tyr559Ter). These mutations were absent from 270 sequenced controls and from all public exome and whole genome databases, including the 1000 Genomes database (which includes data from Africa). However, 4 of the 5 mutations were present in unaffected mothers, indicating that their penetrance is incomplete. Interestingly, 1 mutation damaged a predicted sumoylation site, and another disrupted a predicted CK1 phosphorylation site. Overexpression assays in zebrafish and reporter assays in vitro indicated that 4 variants were functionally null or hypomorphic, while 1 was dominant negative. This study provides evidence that, as in Caucasian populations, mutations in GRHL3 contribute to the risk of nonsyndromic CPO in the African population.

Improvized laryngeal cautery forcep in microsurgical treatment of laryngotracheal stenosis--experience in Nigeria, sub-Saharan Africa.

Traumatic laryngotracheal stenosis is uncommon, however it seems to be increasing due to improvement in survival after trauma and detection of injury. Surgical options include dilatation and intralesional steroid, endolaryngeal microsurgery and laryngotracheal resection and anastomosis. We report our experience with management of traumatic laryngotracheal stenosis using improvised cauterization forcep in endolaryngeal microsurgery, in the absence of supportive facility for open laryngeal surgery in resource--poor sub-Saharan Africa. This is a retrospective analysis of the outcome of endolaryngeal microsurgery in patient with laryngotracheal stenosis using our improvised laryngeal cautery forceps. Traumatic A Lindholm laryngoscope suspended by a Riecher-Kleinsasser laryngoscope holder and chest support; and Carl-Zeiss operating microscope (Op Mi 1) was used for surgery. We improvised a laryngeal cauterization forcep by using an oesophageal foreign body forcep inserted in the measured length of fluid--giving set, exposing about 1 cm of the cutting end would insulate the forcep against the laryngotracheal wall. The diathermy handle is applied to the exposed end of the forceps. All the patients had endolaryngeal microsurgery and intralesional steroid. Thirteen endolaryngeal microsurgical procedures were done on 5 patients, 4 males and 1 female. The age ranged between 19 and 62 years. Functional voice and decannulation was achieved in 2/5 patients after each had had between 2-3 procedures. The indications in all was hoarseness while there was in addition, upper airway obstruction and dependence on tracheostomy in 3. The stenosis was supraglottic in 2, combined glottic and subglottic in 1 and laryngotracheal involvement in 2. Using the circumference of the laryngeal lumen as reference for severity of stenosis, 2 patients had a 50-70% lumen obstruction while 2 had a 71-99% and 1 had 100% lumen obstruction. We found the improvisation of the laryngeal cautery forcep useful for procedures in the larynx and recommend it to resource--poor centres where appropriate facilities are yet available. However this further shows that the role of endolaryngeal microsurgery is limited in laryngotracheal stenosis. The availability of other therapeutic modalities and training of personnel will give us the opportunity of a randomized treatment comparison in future.