Prevalence and risk factors for initiating tobacco and alcohol consumption in adolescents living in urban and rural Ethiopia.

OBJECTIVES: African countries are potential high growth markets for the alcohol and tobacco industries. This study aimed to identify exposures that are associated with initiating use of alcohol and tobacco products in young people living in Ethiopia. As televised football and Internet viewing are media through which products can be promoted to this population efficiently, these risk factors were of particular interest. STUDY DESIGN: This is a cross-sectional study. METHODS: Data were collected using a self-administered questionnaire of 3967 children aged 13-19 years in 20 high schools in urban and rural Ethiopia on consumption and risk factors for alcohol and tobacco use in 2016, as well as exposure to potential sources of advertising. RESULTS: Eight percent of respondents reported having ever smoked and 3% were current smokers. Twenty-nine percent reported ever having used alcohol, and 14% were current users. Risk factors for ever smoking included father smoking (odds ratio [OR] 1.95; 95% confidence interval [CI]: 1.21 to 3.15), mother smoking (OR 3.90; 95% CI: 1.63 to 9.33), best friend smoking (OR 5.86; 95% CI: 4.31 to 7.96) and home Internet access (OR 1.75; 95% CI: 1.35 to 2.27). There was a very strong positive association between ever having smoked cigarettes and ever having tried alcohol (P < 0.001). Risk factors for currently drinking alcohol included father drinking (OR 1.45; 95% CI: 1.05 to 2.01), mother drinking (OR 2.00; 95% CI: 1.44 to 2.77), home Internet access (OR 1.53; 95% CI: 1.24 to 1.90) and regular watching of televised football (OR 2.44 compared to those who do not; 95% CI: 1.58 to 3.78). CONCLUSIONS: As in rich countries, tobacco and alcohol use among Ethiopian teenagers increases among those exposed to family and peer use but are also more common among those accessing the Internet and, for alcohol, those watching televised football. The effect of watching televised football on alcohol use, at least, is likely to be due to exposure to advertising.

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.

The burden of road traffic injuries in an emergency department in Addis Ababa, Ethiopia.

SETTING: The emergency department (ED) of Zewditu Memorial Hospital, Addis Ababa, Ethiopia. OBJECTIVE: To document the proportion, trend, characteristics and outcomes of road traffic injury (RTI) related ED admissions (⩾15 years) between 2014 and 2015. DESIGN: A retrospective, cross-sectional study using routinely collected ED data. RESULTS: Of 10 007 ED admissions, 779 (8%) were RTI cases; this proportion peaked in the month of January (11%). Medical records were available for 522 (67%) of these RTI cases. The median age was 28 years and 69% were males. The majority were pedestrians (69%) injured by an automobile (78%). On triage, 32% were classified as needing urgent/immediate intervention. Head injuries (20%) were the second most common injury after lower limb injuries (36%). ED outcomes were as follows: discharged (68%), hospitalised (17%), referred (17%) and died (1%). Among the 78 hospitalised cases, respectively 62% and 16% were admitted to the surgical and orthopaedic departments. Of 146 RTI cases with head injuries, 25% were hospitalised, of whom 82% were admitted to the surgical department. CONCLUSION: Our findings can guide policy makers in referral hospitals in improving the planning of hospital resources and the prioritisation of public health needs linked to further urban development. A comprehensive plan to prevent RTIs, particularly among pedestrians in Addis Ababa, is urgently needed.

Contexte : Le service des urgences de l'hôpital Zewditu Memorial, Addis-Abeba, Ethiopie.Objectif : Documenter la proportion, la tendance, les caractéristiques et le devenir des patients (âgés ⩾15 ans) admis pour des blessures de la route (RTI) entre 2014 et 2015.Schéma : Une étude rétrospective transversale basée sur des données recueillies en routine par le service des urgences.Résultats : Sur 10 007 admissions aux urgences, 779 (8%) étaient des cas de RTI; cette proportion culminait au mois de janvier (11%). Les dossiers médicaux ont été disponibles pour 522 (67%) de ces cas de RTI. Leur âge médian était de 28 ans et 69% étaient des hommes. La majorité était des piétons (69%) blessés par une automobile (78%). Lors du triage, 32% ont été classés comme ayant besoin d'une intervention urgente/immédiate. Les traumatismes crâniens (20%) étaient au deuxième rang, suivant les blessures des membres inférieurs (36%). Le devenir des patients a été le suivant : sortie (68%), hospitalisation (17%), référence (17%) et décès (1%). Parmi les 78 cas hospitalisés, respectivement 62% et 16% ont été admis dans les services de chirurgie et d'orthopédie. Sur les 146 cas de RTI ayant eu un traumatisme crânien, 25% ont été hospitalisés, dont 82% ont été admis en service de chirurgie.Conclusion : Nos résultats peuvent guider les décideurs des hôpitaux de référence dans l'amélioration de la répartition des ressources et le choix de priorités en matière de besoins de santé publique liés au développement urbain ultérieur. Il y a un besoin urgent d'un plan complet de prévention des RTI, particulièrement parmi les piétons à Addis-Abeba.

Marco de referencia: El servicio de urgencias del Zewditu Memorial Hospital de Adís Abeba, en Etiopía.Objetivo: Verificar la proporción de los pacientes (⩾15 años de edad) que ingresaron al servicio de urgencias (ED) por traumatismos causados por el tránsito (RTI) y analizar las tendencias, las características y los desenlaces de estos casos del 2014 al 2015.Método: Fue este un estudio transversal realizado a partir de los datos corrientes recogidos retrospectivamente en el ED.Resultados: De los 10 007 ingresos al ED, 779 correspondieron a casos de RTI (8%); esta proporción fue más alta durante el mes de enero (11%). De estos casos, se pudo recuperar la historia clínica de 522 pacientes (67%). La mediana de la edad fue 28 años y el 69% de los pacientes era de sexo masculino. La mayoría de los pacientes eran peatones (69%) y la causa del accidente había sido un automóvil (78%). Tras la clasificación de los pacientes al ingreso, se consideró que el 32% precisaba una intervención urgente o inmediata. El traumatismo craneoencefálico fue la segunda lesión más frecuente (20%) después de las lesiones de los miembros inferiores (36%). Los desenlaces clínicos del ED fueron como sigue: alta (68%), hospitalización (17%), remisión (17%) y muerte (1%). De los 78 pacientes hospitalizados, el 62% ingresó al servicio de cirugía y el 16% al servicio de ortopedia. De los 146 casos de RTI con trauma craneoencefálico, 25% de los pacientes se hospitalizaron, de los cuales el 82% en el servicio de cirugía.Conclusión: Estos resultados pueden orientar a las instancias normativas de los hospitales de referencia a mejorar la planificación de los recursos hospitalarios y a priorizar las necesidades de salud pública en relación con el futuro desarrollo urbano. En Adís Abeba se precisa con urgencia un plan de prevención de los RTI a los peatones.

Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.

Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with a global incidence of 1 per 700 live births. These anomalies exhibit a multifactorial pattern of inheritance, with genetic and environmental factors both playing crucial roles. Many loci have been implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations of Asian and European ancestries, through genome-wide association studies and candidate gene studies. However, few populations of African descent have been studied to date. Here, the authors show evidence of an association of some loci with NSCL/P and nonsyndromic cleft palate only (NSCPO) in cohorts from Africa (Ghana, Ethiopia, and Nigeria). The authors genotyped 48 single-nucleotide polymorphisms that were selected from previous genome-wide association studies and candidate gene studies. These markers were successfully genotyped on 701 NSCL/P and 163 NSCPO cases, 1,070 unaffected relatives, and 1,078 unrelated controls. The authors also directly sequenced 7 genes in 184 nonsyndromic OFC (NSOFC) cases and 96 controls from Ghana. Population-specific associations were observed in the case-control analyses of the subpopulations, with West African subpopulations (Ghana and Nigeria) showing a similar pattern of associations. In meta-analyses of the case-control cohort, PAX7 (rs742071, P = 5.10 × 10(-3)), 8q24 (rs987525, P = 1.22 × 10(-3)), and VAX1 (rs7078160, P = 0.04) were nominally associated with NSCL/P, and MSX1 (rs115200552, P = 0.01), TULP4 (rs651333, P = 0.04), CRISPLD2 (rs4783099, P = 0.02), and NOG1 (rs17760296, P = 0.04) were nominally associated with NSCPO. Moreover, 7 loci exhibited evidence of threshold overtransmission in NSOFC cases through the transmission disequilibrium test and through analyses of the family-based association for disease traits. Through DNA sequencing, the authors also identified 2 novel, rare, potentially pathogenic variants (p.Asn323Asp and p.Lys426IlefsTer6) in ARHGAP29 In conclusion, the authors have shown evidence for the association of many loci with NSCL/P and NSCPO. To the best of this knowledge, this study is the first to demonstrate any of these association signals in any African population.