Multi-ancestry Genome Wide Association Study Meta-analysis of Non-syndromic Orofacial Clefts.

Non-syndromic orofacial clefts (NSOC) are common craniofacial birth defects, and result from both genetic and environmental factors. NSOC include three major sub-phenotypes: non-syndromic cleft lip with palate (NSCLP), non-syndromic cleft lip only (NSCLO) and non-syndromic cleft palate only (NSCPO), NSCLP and NSCLO are also sometimes grouped as non-syndromic cleft lip with or without cleft palate (NSCL/P) based on epidemiology. Currently known loci only explain a limited proportion of the heritability of NSOC.

Cell-free DNA methylation-based inflammation score as a marker for hepatocellular carcinoma among people living with HIV.

Background: People living with the human immunodeficiency virus (HIV) are at a greater risk of developing hepatocellular carcinoma (HCC), potentially due to the stimulation of inflammation by HIV infection. Inflammation-related DNA methylation signatures obtained in liquid biopsy, such as circulating cell-free DNA (cfDNA), may serve as promising minimally invasive biomarkers that can inform diagnosis of HCC.

Methods: Using data from 249 individuals with HIV (114 individuals with normal liver conditions, 69 with fibrosis, 30 with cirrhosis, and 36 with HCC), we constructed a cfDNA methylation-based inflammation score (inflammation-DNAm score) based on 54 CpGs previously associated with circulating C-reactive protein concentrations.

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.

Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural birth defects and are often divided into cleft lip with or without cleft palate (CL/P) and cleft palate only (CP). Previous studies have found sex-specific risks for CL/P, but these risks have yet to be evaluated in CP.

Genome scan reveals several loci associated with torus palatinus.

Objective: Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.

Evaluation of Weight, Height, Body Mass Index, and Nutritional Status of Children With and Without Orofacial Cleft in Nigeria.

Objective: To compare the weight, height, BMI and nutritional status of patients with and without cleft lip and/or cleft palate (CLP).

Design: Cross-sectional study.

Setting: Lagos University Teaching Hospital.

Rare variants analyses suggest novel cleft genes in the African population.

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been implicated in the missing heritability.

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.

Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural birth defects and are often divided into cleft lip with or without cleft palate (CL/P) and cleft palate only (CP). Previous studies have found sex-specific risks for CL/P, but these risks have yet to be evaluated in CP.

Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFC. Rare variants have been implicated in the missing heritability.

Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research.

Background: A fundamental ethical issue in African genomics research is how socio-cultural factors impact perspectives, acceptance, and utility of genomic information, especially in stigmatizing conditions like orofacial clefts (OFCs). Previous research has shown that gatekeepers (e.g.

Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa.

Background: Inadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding and utility of secondary genetic findings (SFs) in under-represented populations in genomics research. SFs arise from deep DNA sequencing done for research or diagnostic purposes and may burden patients and their families despite their potential health importance. This study aims to evaluate the perspective of both groups regarding SFs and their choices in the return of results from genetic testing in the context of orofacial clefts.

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125).

Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.

Introduction: The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large-scale population genomic studies. The availability of data from the first whole-genome sequencing for orofacial clefts in an African population motivated this investigation.

Achieving a robust mentoring and research capacity program in a LMIC - the BRAINS faculty development model.

Background: A research and training program (RTP) was carried out to build the capacity of faculty and improve the culture of research in the College of Medicine, University of Lagos (CMUL), Nigeria.

Methods: Realist-guided mixed methods evaluation of the BRAINS project was carried out using secondary data generated during the 5-years (2015 - 2020) of project implementation. Capacity building workshops and mentored research activities targeted at faculty in the CMUL were conducted.

Universal use of face mask for the prevention of the spread of COVID-19 in community settings in a South-western State of Nigeria: willingness and barriers.

Background And Objectives: One of the major drivers of the novel coronavirus (SARS-CoV-2) pandemic is community transmission. Nigeria, like other countries globally, took to strict preventive public health measures including good respiratory and hand hygiene, physical distancing, and the use of face mask to control the spread of COVID-19 disease. Furthermore, the government of Lagos State in Nigeria made a pronouncement on the universal use of face mask in the community.

Evaluation of the Effect of Surgical Repair on Lip-Nose Morphometric Parameters of Patients with Unilateral Cleft Lip using Two-Dimensional Photogrammetry: A Comparative Study between the Cleft and the Non-Cleft Side.

Background: This prospective, comparative study was carried out to evaluate the effect of cleft lip repair on lip-nose morphometric characteristics of subjects with complete unilateral cleft lip/palate at the University of Maiduguri Teaching Hospital, Borno State, Nigeria.

Materials And Methods: The study population consisted of a total of 29 subjects. Lip repair was done using Millard's rotation advancement technique by a single consultant.

Effect of manuka honey socket dressing on postoperative sequelae and complications following third molar extraction: A randomized controlled study.

To evaluate the effect of manuka honey on the healing of mandibular third molar extraction sockets. This was a prospective randomized study at a tertiary health institution in Lagos, Nigeria. All extractions were transalveolar, using the distobuccal bone guttering technique.

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.

Orofacial clefts (OFCs) are the most common craniofacial birth defects and are often categorized into two etiologically distinct groups: cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP). CP is highly heritable, but there are still relatively few established genetic risk factors associated with its occurrence compared to CL/P. Historically, CP has been studied as a single phenotype despite manifesting across a spectrum of defects involving the hard and/or soft palate.

A Review of the Use of Buccal Fat Pad in Cleft Palate Repair.

Objective: To review the available evidence on the use of the Buccal Fat Pad in primary and secondary Cleft Palate repair.

Methods: This is a narrative review. A computerized literature search was conducted for articles published till February 2022 using the Mesh phrases buccal fat pad AND cleft palate, Bichat's Fat pad AND cleft palate, buccal fat pad OR Bichats Fat pad AND cleft palate.

Neurosensory Deficits of Inferior Alveolar Nerve Following Impacted Mandibular Third Molar Extraction: Comparison of One-Stage Complete Extraction with Two-Stage Partial Coronectomy Surgical Technique.

Objectives: Inferior alveolar nerve neurosensory deficit is a worrisome complication of surgical extraction of impacted mandibular third molars. A novel approach using two-stage partial coronectomy has been proposed as an alternative surgical procedure to reduce this complication. This study compared neurosensory deficits of inferior alveolar nerve following impacted mandibular third molar extraction using one-stage complete extraction with the two-stage partial coronectomy technique.

Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study.

Background: Several population-based case-control studies have reported concurrent presentation of cancer and congenital malformations. Many associations have been made between oral clefting and cancers, though some of these results are conflicting. Some studies have reported an increased risk of cancer among 1st-degree relatives of cleft cases and vice versa, and also an excess risk of cancers of the breast, lung, and brain among those with oral clefts.

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P.

Assessment of the utility of a screening tool for COVID-19 diagnosis in an accident and emergency department in Lagos, Nigeria: A pilot study.

Unlabelled: The use of reverse transcription-polymerase chain reaction (RT-PCR) is the gold standard laboratory test for diagnosing SARS-CoV-2 infection. However, it has the disadvantage of a long turnaround time and cost. The Nigeria Centre for Disease Control (NCDC) formulated a case definition for COVID-19.