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.

Popliteal Pterygium Syndrome: A Case Report Highlighting Challenges and Surgical Interventions in a Resource-limited Setting.

Popliteal pterygium syndrome is a rare congenital disorder characterized by facial, genitourinary, and musculoskeletal anomalies, with popliteal webbing being notably challenging. A 4-year-old boy presented with progressive limping, cleft palate, and genital malformations. He had no follow-up care after an intraoral band excision at 15 days old.

Impact of WHO's Surgical Safety Checklist-Based Program on Cleft-lip and Palate Repair Outcomes in LMICs-The CLEAN CLEFT Program.

Background: "Clean Cleft" (CC) is an adaptation of the Lifebox Clean Cut program, designed to reduce surgical site infections (SSIs) in cleft lip and palate repairs. It focuses on 6 key processes: hand and site decontamination, surgical linen integrity, instrument sterility, timely antibiotic use, gauze counting, and WHO Surgical Safety Checklist compliance. The study explores CC's effectiveness in reducing infections, other complications, and enhancing early recovery.

Clinical Outcomes after Cleft Palate Repair at a Major Referral Hospital in Addis Ababa, Ethiopia.

Background: The two most common complications after primary palatoplasty are oronasal fistula and velopharyngeal insufficiency (VPI). To the best of our knowledge, there have been no studies examining postpalatoplasty speech outcomes in Ethiopia.

Methods: A hospital-based retrospective cross sectional study design was used.

Experiences establishing a new speech-language pathology training program in Ethiopia, a resource-limited setting: Lessons learned.

Purpose: Ethiopia is the second most populous country in sub-Saharan Africa. While Ethiopia's health care system includes primary health centres, general, and specialised hospitals, allied health care like speech-language pathology was not available until 2003. This article was written with the aim of sharing the experience of establishing speech-language pathology as a profession and the first speech-language pathology training program in Ethiopia.

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.

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.

Substitution of concentrate mixture with dried brewery spent grains improved biological and economical performance of 50% Dorper × Menz crossbred sheep.

The study aimed to investigate the potential of dried brewery spent grains (DBG) to substitute concentrate mixture (CM) in a diet of growing 50% Dorper × Menz crossbred ram lamb. Randomized complete block design (RCBD) was used for this study, and experimental animals were stratified into 7 blocks based on their initial body weight and age. Ram lambs from each block were randomly assigned to one of the five treatments.

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.

Modifiable factors associated with a consistently high acute pain trajectory after surgical treatment of traumatic fractures in Ethiopia: a multi-center prospective cohort study.

Background: In Ethiopia, little is known about postoperative pain trajectories and possible predictive factors associated with them in patients undergoing surgery following traumatic fractures.

Methods: This multi-center prospective observational cohort study included surgical candidates for traumatic fractures (n = 218). Worst pain intensity was measured with an 11-point numeric rating scale on the first 4 postoperative days and day of hospital discharge.

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.

Anesthesia students' perception of the educational environment and academic achievement at Debre Tabor University and University of Gondar, Ethiopia: a comparative cross-sectional study.

Background: Excellence in Anesthesia education has been advocated to meet the current and future needs of the society. Educational environment plays significant role in determining students' learning and academic achievement. This study assessed the perception of Anesthesia students on their educational environment and it association with their academic achievement at Debre Tabor University and University of Gondar.

Patient-Proxy and Societal Perspectives of Quality-of-Life Utilities in Children With Cleft Lip and Palate Managed With Surgical Repair vs No Repair in Ethiopia.

Importance: In Ethiopia, more than 70% of infants with cleft lip and/or palate (CL/P) lack access to surgery. Infants who are untreated can experience severe malnutrition and extreme social stigma resulting in abandonment. Utilities are standardized measures of health-related quality of life (HRQOL) that inform health care resource allocation.

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.

Outcomes of microsurgical free tissue transfer performed on international surgical collaborations in low-income and middle-income countries: A systematic review and meta-analysis.

Background: Microsurgical free tissue transfer is the gold standard for reconstruction of significant soft tissue and bony defects following cancer resection and trauma. Many reconstructive units in low-income and middle-income countries (LMICs) do not yet have access to the resources or training required to perform microsurgical procedures. Long-term international collaborations have been formed with annual reconstructive programmes conducting microsurgery.

Pattern of Orofacial Clefts at A Tertiary Care Hospital in Ethiopia.

Background: Clefts of the lip and/or palate are the most common craniofacial birth defects. The worldwide birth prevalence is 1/700 live births. There are varying reports from Africa.

Adapting Elements of Cleft Care Protocols in Low- and Middle-income Countries During and After COVID-19: A Process-driven Review With Recommendations.

A consortium of global cleft professionals, predominantly from low- and middle-income countries, identified adaptations to cleft care protocols during and after COVID-19 as a priority learning area of need. A multidisciplinary international working group met on a videoconferencing platform in a multi-staged process to make consensus recommendations for adaptations to cleft protocols within resource-constrained settings. Feedback was sought from a roundtable discussion forum and global organizations involved in comprehensive cleft care.

Optimizing near Infrared Reflectance Spectroscopy to Predict Nutritional Quality of Chickpea Straw for Livestock Feeding.

Multidimensional improvement programs of chickpea require screening of a large number of genotypes for straw nutritive value. The ability of near infrared reflectance spectroscopy (NIRS) to determine the nutritive value of chickpea straw was identified in the current study. A total of 480 samples of chickpea straw representing a nation-wide range of environments and genotypic diversity (40 genotypes) were scanned at a spectral range of 1108 to 2492 nm.

Evidence Gaps and Challenges in the Fight Against COVID-19 in Africa: Scoping Review of the Ethiopian Experience.

Background: Ethiopia, like many African countries, took immediate actions to contain the coronavirus disease (COVID-19) outbreak and its impacts. However, the pandemic control measures were not guided by robust local evidence and not tailored to national contexts. In this review, we aimed to evaluate the evidence gaps and challenges of COVID-19 control measures in Ethiopia during the early months of the pandemic.

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.