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1.
Cleft Palate Craniofac J ; 60(8): 962-970, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-35261292

RESUMO

OBJECTIVE: To evaluate and compare the effect of honey or saline mouth bath for wound care on the rate of re-epithelisation of the lateral palatal defects and occurrence of early postoperative complications following palatoplasty. METHODOLOGY: This was a prospective randomized study on participants with non-syndromic cleft palate conducted at a tertiary health institution in Lagos, Nigeria. The test group received oral honey drops for post-operative care for an initial period of two weeks post-surgery, while the control group had regular oral toileting using a warm saline solution. The primary outcome was epithelisation of lateral palatal defect at 2- and 4-weeks post repair. Descriptive and comparative statistics were computed, and the p-value was set at <0.05. RESULTS: Fifty participants were recruited into the study, 24 in the Test group and 26 in the Control group. The frequency of occurrence of oronasal fistula in the Test group was 4.0% while in the Control group was 10.0%, however, this was not statistically significant. Complete epithelisation of the lateral palatal defect was clinically observed in 66.7% of the participants in the Test group at 2 weeks post-operation, while only 38.5% of participants in the Control group had clinically observed complete epithelisation at the same time point (ß = 1.70, p = .035, 95% CI 1.122-26.533). At four weeks, all wounds had epithelised irrespective of the study group. CONCLUSION: The application of honey appears to aid earlier epithelization of palatal surgical wounds following cleft palate repair and reduced the incidence of palatal fistula.


Assuntos
Fissura Palatina , Fístula , Mel , Humanos , Lactente , Fissura Palatina/cirurgia , Fissura Palatina/complicações , Antissépticos Bucais , Estudos Prospectivos , Solução Salina , Nigéria , Fístula Bucal/cirurgia , Complicações Pós-Operatórias/cirurgia , Cicatrização , Estudos Retrospectivos , Resultado do Tratamento
2.
Cleft Palate Craniofac J ; : 10556656231155768, 2023 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-36760091

RESUMO

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. RESULTS: A total of 35 articles were included in this review based on the set eligibility criteria. Most of the studies were retrospective case reviews (n = 16, 45.7%), and the aggregate number of patients from all included studies was 666. Reported uses of the buccal fat pad (BFP) in association with cleft palate repair include the closure of central cleft palate defect and nasal floor in primary cleft palate repair, oronasal fistula repair following primary repair of cleft palate, and closure of relieving incision defect in primary repair of cleft palate. Complications reported were 24 cases of Oronasal Fistula (ONF), 2 dehiscences, and 4 transient mucosal defects. CONCLUSION: The high success rate, vascularity, ease of tissue harvest, and low donor site morbidity all support its use as an adjunct flap in cleft palate repair, especially in the closure of wide palatal clefts, to prevent post-palatal repair fistula, wound contracture, and subsequently velopharyngeal insufficiency and possibly midface hypoplasia.

3.
Oral Dis ; 28(7): 1921-1935, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34061439

RESUMO

OBJECTIVES: Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome-wide association studies and whole-exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH, RORA, MRPL53, ACVR1, and GDF11. MATERIALS AND METHODS: We sequenced these five genes in 1255 multi-ethnic cleft lip with/without palate and cleft palate only samples in order to find variants that may provide potential explanations for the missing heritability of orofacial clefts. Rare and novel variants were further analyzed using in silico predictive tools. RESULTS: Ninteen total variants of interest were found, with variant types including stop-gain, missense, synonymous, intronic, and splice-site variants. Of these, 3 novel missense variants were found, one in SHH, one in RORA, and one in GDF11. CONCLUSION: This study provides evidence that variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts in various populations.


Assuntos
Fenda Labial , Fissura Palatina , Proteínas Morfogenéticas Ósseas , Fenda Labial/genética , Fissura Palatina/genética , Estudo de Associação Genômica Ampla , Fatores de Diferenciação de Crescimento/genética , Humanos
4.
J Craniofac Surg ; 33(4): 1178-1181, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34310429

RESUMO

ABSTRACT: This study aimed to determine the normative facial anthropometry measurement among Nigerians using three-dimensional stereophotogrammetry analysis.This study was carried out in Lagos, Nigeria over a period of 3 years. The sample population was Nigerians of diverse ethnic groups, age 16 and above with no history of congenital or acquired craniofacial deformities.A total of 452 subjects participated in the study with 56.2% males and 43.8% females. Most of the participants were between the ages of 25 to 49 (54.4%), 40.7% were less than 25 years of age and only 4.4% were more than 50 years old. The mean body mass index (BMI) for males was 22.7 and 23.4 for females. Mean values of upper facial height, midfacial height, lower facial height, intercanthal distance, interpupillary distance, upper facial width, and lower facial width are 69.13 ±â€Š5.91, 49.89 ±â€Š3.56, 67.85 ±â€Š6.12, 35.19 ±â€Š3.20, 67.04 ±â€Š3.67, 139.43 ±â€Š7.11, and 124.29 ±â€Š9.72 mm, respectively. The upper facial height, commissure width, upper lip length, and lower jaw width were significantly affected by age, while the BMI of an individual was a determinant of the interpupillary distance, facial width, and lower jaw width.This study demonstrated that there was a statistically significant difference in the facial dimensions of males when compared to females across all ages among the study population. The authors also observed that age and BMI are significant predictors of variations in some of the measurements.


Assuntos
Face , Fotogrametria , Adolescente , Adulto , Antropometria/métodos , População Negra , Face/anatomia & histologia , Face/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nigéria
5.
Cleft Palate Craniofac J ; 59(1): 110-120, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33655761

RESUMO

OBJECTIVES: To examine the literature and synthesize the available reports for the best possible option between absorbable, nonabsorbable, and tissue adhesives in cleft lip skin closure. DESIGN: We conducted systematic searches for randomized controlled trials and controlled clinical trials in PubMed, Cochrane, Ovid Medline, and OpenGrey databases. Identified studies were retrieved and assessed for eligibility. All statistical analyses were done with Revman, version 5.4. INTERVENTIONS: The intervention considered in this systematic review were techniques of cleft lip repair using resorbable sutures, nonabsorbable sutures, medical adhesives, or any combination of these. OUTCOME MEASURES: The primary outcomes assessed in the trials had to include any combination of the following: wound healing cosmesis and wound healing complications. While secondary outcomes considered were quality of life, direct and indirect costs to patients and health services, and participant satisfaction. RESULTS: Only 6 studies met all inclusion criteria and were selected for qualitative analysis. A more favorable wound healing cosmesis was seen when nonabsorbable suture was used in cleft lip repair compared to absorbable sutures and tissue adhesives (CI, 0.65-4.35). This advantage was overshadowed by the significantly higher prevalence of postoperative complications when nonabsorbable sutures are used. CONCLUSION: Although the results point to more favorable cosmesis with nonabsorbable sutures and an overall more favorable outcome with either absorbable sutures or tissue adhesives, the 6 selected studies were assessed at an unclear risk of bias; therefore, the results of this study should be interpreted with caution and regarded as low-certainty evidence.


Assuntos
Fenda Labial , Adesivos Teciduais , Fenda Labial/cirurgia , Humanos , Qualidade de Vida , Suturas , Resultado do Tratamento
6.
Cleft Palate Craniofac J ; 59(7): 841-851, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-34382870

RESUMO

OBJECTIVE: Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene-environment interactions, stochastic factors, gene-gene interactions, and parent-of-origin effects (POEs) play cardinal roles. POEs arise when the parental origin of alleles differentially impacts the phenotype of the offspring. The aim of this study was to identify POEs that can increase risk for NSCL/P in humans using a genome-wide dataset. METHODS: The samples (174 case-parent trios from Ghana, Ethiopia, and Nigeria) included in this study were from the African only genome wide association studies (GWAS) that was published in 2019. Genotyping of individual DNA using over 2 million multiethnic and African ancestry-specific single-nucleotide polymorphisms from the Illumina Multi-Ethnic Genotyping Array v2 15070954 A2 (genome build GRCh37/hg19) was done at the Center for Inherited Diseases Research. After quality control checks, PLINK was employed to carry out POE analysis employing the pooled subphenotypes of NSCL/P. RESULTS: We observed possible hints of POEs at a cluster of genes at a 1 mega base pair window at the major histocompatibility complex class 1 locus on chromosome 6, as well as at other loci encompassing candidate genes such as ASB18, ANKEF1, AGAP1, GABRD, HHAT, CCT7, DNMT3A, EPHA7, FOXO3, lncRNAs, microRNA, antisense RNAs, ZNRD1, ZFAT, and ZBTB16. CONCLUSION: Findings from our study suggest that some loci may increase the risk for NSCL/P through POEs. Additional studies are required to confirm these suggestive loci in NSCL/P etiology.


Assuntos
Fenda Labial , Fissura Palatina , África Subsaariana , Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Polimorfismo de Nucleotídeo Único
7.
Cleft Palate Craniofac J ; : 10556656221135926, 2022 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-36384317

RESUMO

Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that could explain the risk of nsCL ± P in our cohorts.We conducted next-generation sequencing (NGS) analysis of 130 nsCL ± P case-parent African trios to identify pathogenic variants that contribute to the risk of clefting. We replicated this analysis using whole-exome sequence data from a Brazilian nsCL ± P cohort. Computational analyses were then used to predict the mechanism by which these variants could result in increased risks for nsCL ± P.We discovered damaging mutations within the AFDN gene, a cell adhesion molecule (CAMs) that was previously shown to contribute to cleft palate in mice. These mutations include p.Met1164Ile, p.Thr453Asn, p.Pro1638Ala, p.Arg669Gln, p.Ala1717Val, and p.Arg1596His. We also discovered a novel splicing p.Leu1588Leu mutation in this protein. Computational analysis suggests that these amino acid changes affect the interactions with other cleft-associated genes including nectins (PVRL1, PVRL2, PVRL3, and PVRL4) CDH1, CTNNA1, and CTNND1.This is the first report on the contribution of AFDN to the risk for nsCL ± P in humans. AFDN encodes AFADIN, an important CAM that forms calcium-independent complexes with nectins 1 and 4 (encoded by the genes PVRL1 and PVRL4). This discovery shows the power of NGS analysis of multiethnic cleft samples in combination with a computational approach in the understanding of the pathogenesis of nsCL ± P.

8.
Hum Mol Genet ; 28(6): 1038-1051, 2019 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-30452639

RESUMO

Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.


Assuntos
População Negra/genética , Fissura Palatina/genética , Genética Populacional , Genoma Humano , Genômica , Locos de Características Quantitativas , Alelos , Animais , Mapeamento Cromossômico , Modelos Animais de Doenças , Elementos Facilitadores Genéticos , Feminino , Expressão Gênica , Frequência do Gene , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genômica/métodos , Genótipo , Humanos , Masculino , Camundongos , Razão de Chances , Polimorfismo de Nucleotídeo Único
9.
J Oral Maxillofac Surg ; 79(7): 1540-1548, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33621479

RESUMO

PURPOSE: Comparative evidence of the usefulness of octyl-2-cyanoacrylate tissue adhesive in cleft lip epidermal skin closure especially in Africans is still lacking. This study aimed to compare the outcome of wound healing after the use of Dermabond tissue adhesive and 5/0 Prolene sutures in cleft lip repair. METHODS: This was a prospective randomized controlled clinical study. The sampled population was patients undergoing cleft lip repair at a tertiary health facility in Lagos, Nigeria. Study patients were randomly allocated to either group A (Dermabond) or group B (suture). The predictor variable was the type of material used in skin closure; the primary outcome variable was the esthetics of the resulting scar, and secondary outcome variables were wound healing complications. Assessment of the 3-month postoperative wound scar was performed using the cosmetic visual analog scale (CVAS) and the Hollander Wound Evaluation scale (HWES). Calculated sample size was 14 participants per group. Descriptive and comparative statistics were computed, and the P value was set at <0.05. RESULTS: Analysis of result included 38 participants. Median age was 4 months and 52.6% were women. Two cases (5.3%) of wound healing complications were recorded (1 in each group). Blinded evaluation of the 3-month postoperative photographs yielded a mean CVAS score of 86.0 (±11.2) and HWES score of 5.0 (±0.9) for group A and a mean CVAS score of 76.5 (±14.5) and HWES score of 4.5 (±1.1) for group B. There was no statistically significant difference between these 2 groups based on the CVAS (P = .052) and HWES (P = .152). CONCLUSIONS: The results of this study suggest Dermabond offers a comparable cosmetic outcome as 5/0 Prolene suture in epidermal closure of cleft lip. There was no statistically significant difference in wound complications and wound cosmetic scores between the 2 groups.


Assuntos
Fenda Labial , Adesivos Teciduais , Fenda Labial/cirurgia , Cianoacrilatos/uso terapêutico , Estética Dentária , Feminino , Humanos , Lactente , Nigéria , Polipropilenos , Suturas , Adesivos Teciduais/uso terapêutico , Resultado do Tratamento
10.
J Craniofac Surg ; 32(2): 670-674, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33705006

RESUMO

OBJECTIVE: Among the several factors implicated in the occurrence of local surgical site complications following cleft lip repair is the initial width of the cleft. The aim of the study was to examine the effect of cleft width in the occurrence of immediate local surgical site complications. MATERIAL AND METHODS: All consecutive subjects with diagnosis of unilateral or bilateral cleft lip with or without cleft palate who presented at the cleft clinic and satisfied the inclusion criteria were recruited in the study. The width of the cleft lip defect as adopted for the study was measured from the peak of the Cupid bow on the non-cleft side to a point where the white roll begins to thin out on the cleft side. Measurement was done using a Vernier Calliper. Surgery was performed under general anesthesia after which subjects were evaluated for the presence or absence of immediate local surgical site complications which included dehiscence, infection, and vermillion notching of the lip. RESULTS: A total of 70 subjects consisting of 36 (51.4%) males and 34 (48.6%) females were included in the study. Mean age (±SD) was 9.0 ±â€Š(19.4) months with age range of 3 months to 13 years. The prevalence of early surgical site complications was 24.3%. The width of cleft above a critical level (14 mm) statistically correlate significantly with the occurrence of early surgical site complications (P = 0.048). CONCLUSION: This study showed that the width of cleft lip of and above critical level of 14 mm may be associated with a clinically significant risk of immediate local surgical site complications.


Assuntos
Fenda Labial , Fissura Palatina , Procedimentos de Cirurgia Plástica , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Feminino , Humanos , Lactente , Lábio , Masculino , Mucosa Bucal , Estudos Retrospectivos
11.
J Craniofac Surg ; 32(7): e676-e678, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34224455

RESUMO

AIM: The aim of the study was to investigate the role of variants in GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip/palate. METHOD: Saliva samples were obtained from cases (subjects with orofacial clefts) and control (subjects without orofacial clefts) who consented to the study. Deoxyribonucleic acid (DNA) was extracted using standardized protocol at Butali Lab (Iowa, IA). Primers for the coding region of GJB2 was designed using Primer 3 (http://bioinfo.ut.ee/primer3-0.4.0/) and optimized in the Butali lab using a gradient polymerase chain reaction to determine the annealing temperature for each primer set (forward and reverse). We measured the DNA concentration using Qubit and XY genotyping done for quality control. A concentration of 5 ng/µL of DNA was used for Sanger sequencing. RESULTS: A total of 150 subjects were sequenced (66 cases; 84 controls). Mutations in GJB2 gene were detected in 2 individuals with cleft palate. We found p.Arg165Trp variant in 1 case and p.Leu81Val variant in the second case. Although p.Arg165Trp was predicted to be either benign or tolerated by SIFT/POLYPHEN, the single nucleotide change from C>T, that is, CGG>TGG leads to a premature stop codon preventing the protein formation. The p.Leu81Val variant was predicted to be probably damaging/ deleterious. CONCLUSIONS: The present study implicates variants in the GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip and palate in the Nigerian population. Screening for variations in GJB2 gene is important for genetic counseling especially in high-risk families.


Assuntos
Fenda Labial , Fissura Palatina , Fenda Labial/genética , Fissura Palatina/genética , Conexina 26 , Audição , Humanos , Mutação , Polimorfismo de Nucleotídeo Único
12.
Cleft Palate Craniofac J ; 57(4): 444-447, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31665894

RESUMO

OBJECTIVE: To ascertain the level of utilization of social media platforms and search engines by parents of children with orofacial cleft presenting to our clinic, with respect to information seeking about the condition and its treatment. MATERIALS AND METHODS: All consenting parents of children attending the cleft outpatient clinic of the Department of Oral and Maxillofacial Surgery, Lagos University Teaching Hospital, Idi-Araba, Lagos, within the study period were included in the sample population. Data collection was done using a 17-item interviewer-administered questionnaire. RESULTS: A total of 50 parents participated in the study. Eighty-eight percent first sought information about their child's condition from hospital medical staff. Sixty-eight percent of the parents are active users of social media for general purposes, with Facebook being the most used platform (62%). Forty percent of the total respondents have used search engines/social media to seek information on their child's condition, with majority of those (80%) using Google to search for such information, 35% of the search was in relation to diagnosis, and 75% of the parents considered the information obtained very useful. Only 3 parents reported being part of a social media support group based on their child's condition. CONCLUSION: The use of Internet resources for information seeking among the population studied is low. There is need to leverage on social media to provide support groups for families with children who have cleft.


Assuntos
Fenda Labial , Fissura Palatina , Mídias Sociais , Criança , Humanos , Comportamento de Busca de Informação , Nigéria , Pais , Ferramenta de Busca
13.
Cleft Palate Craniofac J ; 57(8): 1018-1023, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32295412

RESUMO

OBJECTIVE: To carry out a survey of breastfeeding practices and related challenges among mothers with orofacial cleft babies attending the cleft clinic of a tertiary health institution. METHODOLOGY: This was a cross-sectional descriptive study using an interviewer-administered questionnaire. Sample population was all mothers of babies aged between 1 and 18 months with nonsyndromic orofacial clefts attending the cleft clinic of a tertiary health institution in Nigeria. RESULT: A total of 65 mothers participated in the study. Initiation of breastfeeding was reported by the majority (83%, n = 54) of the mothers, and only 18.5% (n = 10) of this proportion continued exclusive breastfeeding. Inability of the babies to suck was reported by 46% (n = 30) of the mothers as being the most important challenge in breastfeeding. There was a significant correlation between the type of cleft and challenge in breastfeeding (Fisher exact P = .001). Sixty-three percent (n = 41) of the mothers reported they received no counseling on overcoming challenges associated with feeding their babies with a cleft at the facility where they delivered. Sixty-nine percent (n = 45) reported they first received nutritional information from the cleft clinic at presentation. The most adopted substitute for breastfeeding was the use of regular feeding bottles (n = 24, 43.6%). CONCLUSION: Rate of initiation of breastfeeding for children with orofacial clefts in this African cohort is higher than reported in other populations despite the low level of nutritional counseling of the mothers after delivery.


Assuntos
Fenda Labial , Fissura Palatina , Aleitamento Materno , Criança , Estudos Transversais , Feminino , Humanos , Lactente , Mães , Nigéria
14.
Am J Hum Genet ; 98(4): 744-54, 2016 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-27018472

RESUMO

Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10(-9)) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis.


Assuntos
Fissura Palatina/genética , Proteínas de Ligação a DNA/genética , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética , Animais , Estudos de Casos e Controles , Fissura Palatina/diagnóstico , Modelos Animais de Doenças , Etnicidade/genética , Loci Gênicos , Estudo de Associação Genômica Ampla , Técnicas de Genotipagem , Humanos , Mutação de Sentido Incorreto , Fatores de Risco , Peixe-Zebra/embriologia , Peixe-Zebra/genética
15.
Hum Mol Genet ; 25(13): 2862-2872, 2016 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-27033726

RESUMO

Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10-8), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10-8). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10-8) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Povo Asiático/genética , População Negra/genética , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 19/genética , Cromossomos Humanos Par 2/genética , Etnicidade , Feminino , Loci Gênicos , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , População Branca/genética
16.
Oral Maxillofac Surg ; 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38926204

RESUMO

OBJECTIVES: To evaluate and compare the effect of dexamethasone, ketoprofen and cold compress on the quality of life (QoL) following surgical removal of impacted lower third molars (ILTMs). MATERIALS AND METHODS: Eligible patients requiring ILTM extraction with a modified Pederson difficulty index score of 5-6 were recruited. The patients were randomly allocated into Groups A, B and C. Groups A and C received 100 mg of ketoprofen and 8 mg of dexamethasone per-oral respectively, preoperatively. Subjects in group B applied a pre-standardized ice pack over the angle of the mandible for 6 h postoperatively. The QoL questionnaire was administered on postoperative days 1, 2 and 7. RESULTS: In total, seventy-eight subjects completed the study: 46 (59%) were male and had a mean age of 27.8 ± 4.9 years. The groups were similar sociodemographically. The overall QoL and appearance domain score were significantly better in patients on oral dexamethasone on postoperative day 1 than in the other groups. CONCLUSIONS: Oral dexamethasone demonstrates better improvement in postoperative QoL and appearance on day 1 following ILTM surgery compared to ice packs and ketoprofen. Although ice packs are readily available, can be used repeatedly and are a low-cost option, more research is necessary to determine their optimum therapeutic use in outpatient settings. CLINICAL RELEVANCE: Oral dexamethasone is superior to ice pack compress and ketoprofen in improving the postoperative QoL in ILTM surgery. TRIAL REGISTRY REGISTRATION NUMBER: PACTR202005593102009 at Pan African Clinical Trial Registry.

17.
J West Afr Coll Surg ; 14(2): 192-198, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38562399

RESUMO

Introduction: Missile injury is a global public health problem, which occurs in both military and civilian settings. Boko Haram insurgency in North-Eastern Nigeria is one of the major violence the country experienced that resulted in many civilian casualties. This study was aimed at exploring the various patterns of the missile injuries to the maxillofacial region during Boko Haram insurgency. Methods: In this retrospective cross-sectional study, relevant information was retrieved from patient records including sociodemographic, causes of missile injuries, site of injuries, pattern of presentation, treatment, and the complications, and analysed using SPSS version 23. Result: A total of 526 patients with various maxillofacial injuries were seen during this 12-year study period, with age ranging from 4 to 65 years, the peak incidence in the age group 31-40 years, 89.5% were males, 92.9% of the injuries were allegedly inflicted by insurgents and comprised of 61.0% gunshot injuries, 24.5% bomb blast, and machete cuts 7.4%. Most of the injuries occurred in the lower third of the face, 39.8%, and mandible was the commonest fractured facial bone. Conclusion: Facial injuries commonly are associated with devastating consequences to survivors and, hence, may require long time monitoring and psychosocial rehabilitations.

18.
J West Afr Coll Surg ; 13(2): 73-77, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37228882

RESUMO

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. Standardised photographs were taken; preoperatively and during different postoperative periods; immediately, 1 week, 3, and 6 months. Indirect measurements of eight linear distances were carried out using Rulerswift software application. For all statistical analyses of mean difference, a P-value of less than 0.05 was accepted as being statistically significant. Results: A total of 52% were women, whereas 44% were men. There are considerable disparities between the cleft and non-cleft sides of complete unilateral cleft patients before surgery; statistically significant differences of 1.4 mm, 6.3 mm, and -17.6 mm in vertical lip height, philtral height, and nasal width respectively. Six months after repair, statistically significant differences in lip height between the cleft and the non-cleft side were observed in vertical lip height, nasal width, and philtral height (mean difference of -1.28 ± 0.78, 2.02 ± 2.86, 1.22 ± 1.83 mm; P < 0.001, P = 0.016, P = 0.022, respectively). Horizontal lip height was maintained with no statistically significant difference (mean difference of -0.12 ± 2.19 mm). Conclusion: Following cleft repair, using Millard's rotation advancement technique, differences in lip-nose morphometric parameters were found to be reduced, however, not always eliminated by treatment.

19.
J Korean Assoc Oral Maxillofac Surg ; 49(2): 86-90, 2023 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-37114446

RESUMO

Objectives: An ectopic tooth is a rare eruption of a tooth out of the normal dental apparatus and occurs commonly with the third molar. Thus, in this study, we reported a case series of ectopic teeth in rare jaw locations and highlight the associated pathology and our experience in the surgical management. Patients and. Methods: All cases of ectopic tooth managed at the Department of Oral and Maxillofacial Surgery, University of Maiduguri Teaching Hospital from January 2011 to December 2020 were reviewed. The information retrieved includes biodata, location of the ectopic tooth, signs, symptoms, type of tooth and associated pathology, surgical approach and complications. Results: Ten cases of ectopic teeth were identified over the study period. This comprised 80.0% males with a mean age was 23.3 years. The antrum and lower border of the mandible accounted for 50.0% and 40.0% of the ectopic locations, respectively. Dentigerous cyst was the most associated pathology (70%) and usually presented with pain and swelling. Surgical intervention predominantly via the intraoral route was performed if indicated. Conclusion: Ectopic teeth are rare and not always associated with pathology. A high index of suspicion and radiological investigation are necessary for diagnosis. A more extensive multi-center study is however recommended to determine the prevalence of ectopic teeth other than the third molar.

20.
J Maxillofac Oral Surg ; 22(1): 178-186, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36703659

RESUMO

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. Material and Methods: Subjects with mesioangular or horizontal impacted mandibular third molar with an intimate relationship with inferior dental canal who met the inclusion criteria were recruited for the study. Subjects were divided into one-stage and two-stage partial coronectomy techniques. The subjects were evaluated for the presence of inferior alveolar neurosensory deficit, and the relationships of neurosensory nerve deficit with sex, age and type of impaction. Results: Neurosensory deficit was observed in 5 subjects (7.8%), with all cases seen in the one-stage group. This difference was statistically significant (p = 0.03). The relationship between the incidence of neurosensory deficit and age, sex, type of impaction, surgical difficulty, operating time and root morphology was not statistically significant (p > 0.05). Conclusion: Findings from this study suggest partial coronectomy compared to one-stage complete extraction reduces the incidence of Inferior alveolar nerve neurosensory deficit.

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