A multi-centre evaluation of oral cancer in Southern and Western Nigeria: an African oral pathology research consortium initiative

INTRODUCTION: Oral cancer is a leading cause of cancer deaths among African populations. Lack of standard cancer registries and under-reporting has inaccurately depicted its magnitude in Nigeria. Development of multi-centre collaborative oral pathology networks such as the African Oral Pathology Research Consortium (AOPRC) facilitates skill and expertise exchange and fosters a robust and systematic investigation of oral diseases across Africa. METHODS: in this descriptive cross-sectional study, we have leveraged the auspices of the AOPRC to examine the burden of oral cancer in Nigeria, using a multi-centre approach. Data from 4 major tertiary health institutions in Western and Southern Nigeria was generated using a standardized data extraction format and analysed using the SPSS data analysis software (version 20.0; SPSS Inc. Chicago, IL). RESULTS: Of the 162 cases examined across the 4 centres, we observed that oral squamous cell carcinomas (OSCC) occurred mostly in the 6th and 7th decades of life and maxillary were more frequent than mandibular OSCC lesions. Regional variations were observed both for location, age group and gender distribution. Significant regional differences was found between poorly, moderately and well differentiated OSCC (p value = 0.0071). CONCLUSION: A multi-centre collaborative oral pathology research approach is an effective way to achieve better insight into the patterns and distribution of various oral diseases in men of African descent. The wider outlook for AOPRC is to employ similar approaches to drive intensive oral pathology research targeted at addressing the current morbidity and mortality of various oral diseases across Africa.Scopu

Oral Health-Related Quality of Life of Children Born With Orofacial Clefts in Ethiopia and Their Parents

Objective: To assess the oral health–related quality of life (OH-RQoL) using a translated standardized measure in an understudied population of Ethiopian children born with orofacial clefts (OFCs) and their parents. Methods: Using a descriptive study design, we assessed the OH-RQoL of 41 patients with OFCs between the ages of 8 and 17 years and their parents. Participants received multidisciplinary cleft care from 2008 to 2016. They completed an Amharic translation of the Child Oral Health Impact Profile (COHIP). Results: There was strong internal reliability with the translated COHIP for parents and patients. Parents’ COHIP scores ranged from 67 to 186, and patients’ scores were 78 to 190. The mean for patients and parents was 155, indicating good OH-RQoL. Conclusion: The Amharic translation of the COHIP appears appropriate for use with families in Ethiopia. Both parents and patients reported OH-RQoL at similar levels as other international populations. </jats:sec

Amniotic band syndrome associated with extremely severe atypical clefts of the orofacial region

Amniotic band syndrome (ABS) is not a commonly seen birth defect; however, it may have the potential to be severe and life-threatening requiring adequate attention. We present a severe case of amniotic band syndrome which encircled the head of the neonate tightly causing severe deformity. In this case report, the amniotic band encircled the head causing a severe bilateral Tessier 7 cleft. To our knowledge, this is the most severe type of ABS reported in the literature thus far. Level of evidence: Level V, risk / therapeutic study.</p

The dentist-scientist career pathway in Africa: opportunities and obstacles

The future of evidence-based dentistry in developing Africa heavily depends on a sustainable establishment of a vibrant dentist-scientist workforce. A dentist scientist is saddled with the responsibility of carrying out robust cutting edge research projects that are inspired by clinical experience. Currently, there are no pipelines in place to systematically train such dentists, neither are there programs in place to allow trained African dentists choose such a career pathway. A dentist-scientist is a person who studied oral, dental, maxillofacial (or craniofacial) diseases, prevention, and population sciences (obtaining a medical degrees such as bachelor of dental surgery [BDS] or BChD) alone; or in combination with other advanced degrees such as doctor of dental surgery (DDS)/doctor of philosophy (PhD) or BDS/PhD. This situation has resulted in overdependence of African clinical practice on research findings from technologically advanced Western countries and a decline in clinical research capacity building. The career path of a dentist-scientist should involve research along the spectrum of basic biomedical sciences, translational, clinical and public health sciences. There are several factors responsible for the ultra-low count of dentist-scientist in the heterogeneous African communities such as: poor biomedical research infrastructure; lack of funding; absence of structured dentist scientist career pathways; lack of personnel, inter alia. Hence, this review hopes to discuss the opportunities of setting up a dentist-scientist training pathway in Africa (as obtains in most developed world settings), identify opportunities and prospects of developing an African dentist-scientist workforce, and finally discuss the challenges involved

Assessing the Practice of Birth Defect Registration at Addis Ababa Health Facilities

BACKGROUND፡ Birth defects are conditions that exist at birth and cause structural changes in one or more parts of the body. In order to plan proper management and design preventive activities of these conditions, accurate tracking, registration and analyses of the registered data are important. We assessed the practice of birth defect registration at Addis Ababa health facilities.METHODS: We retrospectively checked the existence of a separate birth defect registry book and assessed the delivery room registration book for completeness in registering birth defects. We also assessed the total number of birth defects registered during 2010-2015.RESULTS: We assessed the practice of birth defect registration at 37 delivery service providing health facilities in Addis Ababa, 20 public and 17 private institutions. Of the 37 health institutions assessed, 23 registered birth defects (3 of them used a separate birth defect registry books, and 20 used a regular registration book to register birth defects). The remaining 14 did not register any congenital anomaly. Of the institutions that do not register congenital anomalies, 10 are private and four are public.CONCLUSION: Only three delivery providing health facilities had a dedicated birth defect registry book which is close to ideal for a birth defect registration. There is a need for others to do the same until an electronic birth defect registration is established. This registration will serve as a resource for clinical governance and studies into quality of life, quality of care, etiology and prevention

Foreign Bodies Simulating a Congenital Palatal Fistula and Vascular Anomaly

Foreign bodies embedded in the palate are uncommon findings and may occasionally mimic oral lesions. In the majority of the cases, foreign body embedment in the palate happens in infants and children who are unable to give history. Physical examination in the oral cavity of this group of patients in order to arrive at a definitive diagnosis is limited. We present two female infants with foreign bodies adherent to the hard palate. The first was ten months old and the second was 11 months old. In both cases the materials removed from the palate were plastic in nature (black or red in color and circular in shape). The first simulated a palatal fistula and the second a vascular anomaly.</jats:p

MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE-1 in cleft lip tissues:A preliminary study

Background: The medial and maxillary aspects of the upper lip originate at separate embryonic stages and therefore may experience different maternal exposure patterns which may affect methylation. Based on this hypothesis, we investigated the level of methylation of the methylene tetrahydrofolate reductase promoter gene (mMTHFR) in tissues from cleft lip, and mMTHFR levels by MTHFR c.677C &gt; T genotype. We further investigated whether mMTHFR mitigates the effect of smoking on long interspersed nuclear element (LINE-1) methylation in these tissues.Methods: DNA extracted from medial and lateral tissues of 26 infants with nonsyndromic cleft lip with or without cleft palate (nsCL/P) was bisulfite converted and mMTHFR was measured on a pyrosequenser. LINE-1 methylation and MTHFR c.677C &gt; T genotype data were obtained in our previous study.Results: There was no substantial difference in mMTHFR (p =.733) and LINE-1 (p =.148) between the two tissues. mMTHFR was not influenced by MTHFR c.677C &gt; T genotype, but there was suggestive evidence that the difference was larger among infants exposed to maternal smoking compared to nonexposed. LINE-1 methylation differences were significant (p =.025) in infants born to nonsmoking mothers, but this was not apparent (p =.872) in infants born to mothers who smoked. Our Pearson's correlation analysis suggested a weak inverse association between mMTHFR and LINE-1 (r = −.179, p =.381).Conclusion: Our preliminary observation of differences in patterns of mMTHFR levels in lip tissue suggests the interplay of gene and environment in the establishment of methylation in tissues at both sides of cleft lip. This requires investigation in a larger cohort, integrated with metabolic assessment.</p

Multidisciplinary approach to genomics research in Africa:the AfriCRAN model

This article is an outcome of the African Craniofacial Anomalies Research Network (AfriCRAN) Human Hereditary and Health (H3A) grant planning meeting in 2012 in Lagos, Nigeria. It describes the strengths of a multidisciplinary team approach to solving complex genetic traits in the craniofacial region. It also highlights the different components and argues for the composition of similar teams to fast track the discovery of disease genes, diagnostic tools, improved clinical treatment and ultimately prevention of disease

Novel <i>IRF6 </i>mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude syndrome (VWS) is one of the most common (accounting for 2% of all OFC). Popliteal pterygium syndrome (PPS) is considered to be a more severe form of VWS. Mutations in the IRF6 gene have been reported worldwide to cause VWS and PPS. Here, we report studies of families with VWS and PPS in sub-Saharan Africa. We screened the DNA of eight families with VWS and one family with PPS from Nigeria and Ethiopia by Sanger sequencing of the most commonly affected exons in IRF6 (exons 3, 4, 7, and 9). For the VWS families, we found a novel nonsense variant in exon 4 (p.Lys66X), a novel splice-site variant in exon 4 (p.Pro126Pro), a novel missense variant in exon 4 (p.Phe230Leu), a previously reported splice-site variant in exon 7 that changes the acceptor splice site, and a known missense variant in exon 7 (p.Leu251Pro). A previously known missense variant was found in exon 4 (p.Arg84His) in the PPS family. All the mutations segregate in the families. Our data confirm the presence of IRF6-related VWS and PPS in sub-Saharan Africa and highlights the importance of screening for novel mutations in known genes when studying diverse global populations. This is important for counseling and prenatal diagnosis for high-risk families

Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate

Objective: The etiology of cleft palate (CP) is poorly understood compared with that of cleft lip with or without palate (CL ± P). Recently, variants in Grainyhead like transcription factor 3 (GRHL3) were reported to be associated with a risk for CP in European and some African populations including Nigeria, Ghana, and Ethiopia. In order to identify genetic variants that may further explain the etiology of CP, we sequenced GRHL3 in a South African population to determine if rare variants in GRHL3 are associated with the presence of syndromic or nonsyndromic CP.Design: We sequenced the exons of GRHL3 in 100 cases and where possible, we sequenced the parents of the individuals to determine the segregation pattern and presence of de novo variants.Setting: The cleft clinics from 2 public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital and KwaZulu-Natal Children's Hospital.Patients, participants: One hundred patients with CL ± P and their parents.Interventions: Saliva samples were collected.Main outcome measures: To ascertain the genetic variants in the GRHL3 gene in patients with CL ± P in SA.Results: Five variants in GRHL3 were observed; 3 were novel and 2 were known variants. The novel variants were intronic variants (c.1062 + 77A&gt;G and c.627 + 1G&gt;A) and missense variant (p.Asp169Gly).Conclusions: This study provides further evidence that variants in GRHL3 contribute to the risk of nonsyndromic CP in African populations, specifically, in the South African population.</p