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1.
Cleft Palate Craniofac J ; : 10556656241244976, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38557293

RESUMO

OBJECTIVE: To explore the experiences and perceptions of barriers of parents and family members of patients with cleft lip and palate in accessing cleft services in remote northwest Nigeria. DESIGN: Face-to-face semi-structured audio recorded interviews were used to obtained qualitative textual data. Thematic analysis using interpretative descriptive techniques was employed to understand the participants' lived experiences with barriers and accessibility to cleft services. SETTING: Participants were from Sokoto, Kebbi and Zamfara states in remote northwest, Nigeria. PARTICIPANTS: Consisted of 22 caregivers (17 parents and 5 extended family members) were purposively sampled between 2017 and 2020. MAIN OUTCOME MEASURES: Barriers experienced while accessing cleft services were identified during thematic analysis. RESULT: Over three quarter of the respondents had patients with both cleft lip and palate and without any previous family history (n = 20). About two-thirds of the participants (n = 15) were females. Most of the interviews were conducted before the surgeries (n = 15). FIVE THEMES EMERGED: lack of information, financial difficulty, misrepresentation from health workers, multiple transportation and previous disappointment. CONCLUSIONS: Areas of poor awareness, misinformation from primary health care workers, financial hurdles, multiple transportation logistics and others were identified. Aggressive broadcasting of information through radio, timely treatment and collaboration with influential religious leaders were emphasized. Support, grants and subsidies from government and voluntary agencies are encouraged to mitigate the huge out of pocket cost of cleft care in the region.

2.
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
3.
Cleft Palate Craniofac J ; 57(11): 1259-1265, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32519557

RESUMO

OBJECTIVE: To report clinical case series of cleft lip with or without palate (CL/P) and to estimate the prevalence of infants with CL/P who were syndromic or nonsyndromic. DESIGN: This is a clinical case series study of CL/P among live births in the maternity hospital. SETTING: The study was carried out in Maternity and Children Hospital, Najran between January 2013 and December 2016. MATERIALS AND METHODS: Sex and clinical presentation of CL/P were collected from the medical records of live births. Clinical presentations were identified by type of CL/P and stratified according to laterality of occurrence. The data were analyzed using (SPSS) program, version 20. Results were presented in simple descriptive statistics. MAIN OUTCOME: Prevalence of CL/P in the Najran region of Saudi Arabia was 0.65 per 1000 live births (95% CI: 0.650 [0.389-1.092]). Cleft lip and palate was the commonest clinical presentation. RESULT: Of 24 367 live birth, 16 were classified as having CL/P. The overall frequency of CL/P was 0.65/1000 live births (95% CI: 0.650 [0.389-1.092]). There were 10 males and 5 females. Infant sex cannot be established in 1 case. Two (12.5%) patients had cleft lip, 4 (25%) had isolated cleft palate, and 10 (62.5%) had combined CL/P. Nine (56.25%) neonates were cases of nonsyndromic CL/P, while 7 (43.75%) were cases of syndromic CL/P. CONCLUSIONS: Prevalence rate of 0.65 per 1000 live births over 4-year period was observed at (95% CI: 0.650 [0.389-1.092]). Cleft lip with or without palate was the commonest clinical presentation.


Assuntos
Fenda Labial , Fissura Palatina , Criança , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Prevalência , Arábia Saudita/epidemiologia
4.
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
5.
Oral Dis ; 25(1): 142-149, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30099823

RESUMO

OBJECTIVES: Accurate diagnosis of salivary gland neoplasms (SGN) in many centers in Africa is limited by poor diagnostic resources and ancillary services. Hence, we have carried out a multicenter epidemiological study to understand the true burden of SGN in Nigeria. METHOD: In this descriptive cross-sectional study, we have deployed resources available to members of the African Oral Pathology Consortium (AOPRC) to examine the burden of salivary gland lesions in Nigeria, using a multicenter approach. Data from seven major tertiary health institutions in northern, western, and southern Nigeria were generated using a standardized data extraction format and analyzed using the Epi-info software (Version 7.0, Atlanta, USA). RESULT: Of the 497 cases examined across the seven centers, we observed that SGN occurred more in females than males. Overall, pleomorphic salivary adenoma (PA) was found to be the most common. PA was found to be the commonest benign SGN while adenocystic carcinoma (ADCC) was the commonest malignant SGN. Regional variations were observed for age group, diagnosis, and gender distribution. Significant statistical differences were found between males and females for malignant SGNs (p-value=0.037). CONCLUSION: We found regional variation in the pattern of distribution of SGN in Nigeria. This is the largest multicenter study of SGN in Nigeria, and our findings are robust and representative of the epidemiology of this neoplasm in Nigeria.


Assuntos
Neoplasias das Glândulas Salivares/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , Estudos Transversais , Feminino , Geografia , Humanos , Masculino , Pessoa de Meia-Idade , Nigéria/epidemiologia , Patologia Bucal , Estudos Retrospectivos , Centros de Atenção Terciária , Adulto Jovem
6.
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
7.
BMC Health Serv Res ; 18(1): 416, 2018 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-29879975

RESUMO

BACKGROUND: There is a paucity of data on the pattern of oral and maxillofacial surgeries done in Nigeria. Despite the rising prominence of oral and maxillofacial surgery as a specialty in our immediate environment, no published audit of the surgeries performed exist. This study aims to present the pattern and types of major surgeries done by oral and maxillofacial surgeons in our hospital as well as the indications for such surgeries. It is hoped that the findings will assist in formulating informed policies and improving healthcare delivery. METHODS: A review of hospital records of all patients who had major oral and maxillofacial surgeries at Usmanu Danfodiyo University Teaching Hospital from January, 2013 to August, 2017 was done. Descriptive statistics such biodata, indication for surgery and type of surgery were recorded and analyzed using the IBM SPSS statistics for windows version 20 (Armonk, NY: IBM Corp) software. RESULTS: One hundred and forty six individuals who underwent 158 major surgeries under general anaesthesia were included. There were 82 males and 64 females, giving a male/female ratio of 1.3: 1. The ages ranged from 3 months to 81 years [median of 33 years]. Tumours and tumour-like lesions were the major indications for surgery [85 (58.2%)]. The most commonly performed surgery was mandibulectomy [31 (19.6%)], followed by Open Reduction and Internal Fixation (ORIF) [29 (18.4%)]. CONCLUSION: Major oral and maxillofacial surgeries are common in our environment. The frequencies of these surgeries can increase with better healthcare financing and universal availability of health insurance schemes. Efforts aimed at reducing the incidence of tumours should be instituted.


Assuntos
Hospitais de Ensino , Auditoria Médica , Cirurgia Bucal/estatística & dados numéricos , Adulto , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Nigéria/epidemiologia , Avaliação de Resultados em Cuidados de Saúde , Estudos Retrospectivos
8.
Am J Med Genet A ; 164A(10): 2567-71, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25081408

RESUMO

Nonsyndromic clefts of the lip and palate (NSCLP) are complex genetic traits. Together, they are classified as one of the most common birth defects with a prevalence of 1/700 live births. Genome-wide association studies (GWAS) for nonsyndromic cleft lip with or without cleft palate (NSCL[P]) revealed significant association for common single nucleotide polymorphisms near genes involved in craniofacial development i.e., MAFB, PAX7, VAX1, ARHGAP29 (ABCA4 locus), and IRF6. Sequencing of protein coding regions of the NSCL(P) GWAS candidate genes or adjacent genes suggest a role for rare functional variants. Replication studies in the African population did not observe any significant association with the GWAS candidate genes. On the other hand, the role of rare functional variants in GWAS candidate genes has not been evaluated in the African population. We obtained saliva samples from case triads in Nigeria and Ethiopia for Sanger sequencing of the GWAS candidate genes (MAFB, PAX7, VAX1, ARHGAP29, and IRF6) in order to identify rare functional variants. A total of 220 African samples (140 Nigerians and 80 Ethiopians) were sequenced and we found the following new rare variants- p.His165Asn in the MAFB gene, p.Asp428Asn in the PAX7, a splice-site variant that creates a new donor splice-site in PAX7. We also found three previously reported missense variants p.Gly466Ser in PAX7; p.Leu913Ser and Arg955His in ARHGAP29. No de novo mutations were found. Future genome-wide association and sequencing studies should be conducted using samples from Africa in order to identify new molecular genetic factors that contribute to the etiology of NSCLP.


Assuntos
População Negra/genética , Encéfalo/anormalidades , Fenda Labial/genética , Fissura Palatina/genética , Proteínas Ativadoras de GTPase/genética , Estudo de Associação Genômica Ampla , Humanos , Fator de Transcrição MafB/genética , Fator de Transcrição PAX7/genética , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA/métodos
9.
J West Afr Coll Surg ; 14(1): 109-112, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38486657

RESUMO

Reconstruction of large facial defects is quite a challenging and difficult task. Various surgical options are available, each with its challenges and complications. Galeo-pericranial flap has provided a suitable technique for reconstruction of radical parotidectomy defects with satisfactory outcomes. A 50-year-old farmer with a histologically diagnosed mucoepidermoid carcinoma of the right parotid gland of 15 years duration had radical parotidectomy and reconstruction of the defect with galeo-pericranial flap. The patient was followed up for 2 years, and the flap was completely taken with no donor site morbidity.

10.
Cancer Rep (Hoboken) ; 7(1): e1929, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37884691

RESUMO

BACKGROUND: The burden of oral cancer in Nigeria is increasing. Different studies have shown how public education on oral cancer have increased knowledge of oral cancer across populations, however, it is not known if these practices are adopted by oral physicians, oral and maxillofacial surgeons, and oral pathologists in Nigeria. AIMS: To investigate the patient oral cancer education strategies adopted by oral physicians, oral and maxillofacial surgeons, and oral pathologists in Nigeria. METHODS: This study adopted an analytical cross-sectional study design. This study surveyed practicing oral physicians, oral and maxillofacial surgeons, and oral pathologists in Nigeria. An e-questionnaire was used for this study. The data were analyzed using the SPSS Version 20 software, and a p-value of <.05 was used to determine the level of statistical significance. RESULTS: The study's response rate was 46.6% (75/161). The 75 participants were from the six geopolitical zones in Nigeria responded to the survey questionnaire. Even though more than half (43/75, 57.3%) of the respondents have never received any training since their post-bachelor's degree qualification on the strategies that can be used in educating patients on oral cancer, majority (54/75, 72.0%) of them knew at least one education strategy; also, the most known (36/54, 66.7%) and utilized (33/54, 61.3%) strategy among those respondents who were aware of patient education strategy was health talk. Only 38.7% (29/75) of the respondents reported that health learning materials (posters, leaflets, fliers, and flipcharts) are available in their clinics, all of which were in insufficient quantities. Also, 93.3% (70/75) of the respondents opined that it is worthwhile that dental clinics/hospitals in Nigeria invest in the provision of oral cancer learning materials for patient use. Inferential statistical analysis did not reveal any significant relationship between the respondents' characteristics and their awareness and practice on patient oral cancer education strategies. CONCLUSION: This study identified that many oral physicians, oral and maxillofacial surgeons, and oral pathologists in Nigeria lack the needed capacity to educate their patients on oral cancer. There is a need to strengthen their capacity by giving them training on patient oral cancer education strategies, and by providing them with good quality and enough teaching aids.


Assuntos
Neoplasias Bucais , Médicos , Humanos , Cirurgiões Bucomaxilofaciais , Estudos Transversais , Patologistas , Educação de Pacientes como Assunto
11.
Health Sci Rep ; 6(4): e1208, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37064316

RESUMO

Background and Aims: Yoga is well-thought-out as an all-inclusive approach globally and can be administered in clinical care as an integrative or alternate approach to regular treatment. Yoga exercise has been disclosed to influence remission from cancer cells over a long period of time and also reverses epigenetic alterations. Applications of Yoga in the management of oral oncology patients are scarce, hence the need for a scoping review of the literature. Hence, this study aimed to conduct a scoping review of the existing empirical evidence on the applications of yoga in oral oncology. Methods: The review methodology was informed by Joanna Brigg's Institute guidelines for systematic scoping reviews, and the review was reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. Ten databases were searched. The records of all the literature retrieved from the search were imported into the Rayyan software for deduplication. After the full-text screening, only two were found eligible for inclusion in the scoping review. Data obtained in the included literature were extracted and synthesized. Results: This review found that Yoga was not significantly effective in the management of stress among oral cancer patients (p-values > 0.04). However, it was found that Yoga significantly reduced anxiety, saliva stickiness, and episodes of falling ill (p-values < 0.05) while it improved mental well-being, cognitive functioning, emotional functioning, and head and neck pain of those oral cancer patients that received it (p-values < 0.05). Conclusion: An integrative care approach that considers nonpharmaceutical techniques such as yoga could help to reduce care cost while improving care outcomes and quality of life of oral cancer patients. Hence, it is imperative to consider yoga along with its potential benefits, and we recommend gradual incorporation of yoga into oral cancer care.

12.
Health Sci Rep ; 6(5): e1246, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37152224

RESUMO

Background: Oral human papillomavirus (HPV), gonorrheal, chlamydial, syphilitic and trichomonas infections are very common sexually transmitted diseases (STDs) in Africa. However, no known study has reviewed the available evidence concerning the preventative interventions by dental care professionals (DCPs) in Africa on oral STDs; hence, this scoping review was conducted to evaluate the research landscape of this topic area in Africa. Methods: The scoping review methodology and documentation were informed by the Arksey and O'Malley's guideline, the Preferred Reporting Items for Systematic Reviews and Meta-analysis extension for conducting Scoping Reviews (PRISMA-ScR) checklist, and the AMSTAR-2 guideline. Ten electronic research databases were searched to retrieve literatures relevant to the scoping review question. The retrieved literature were deduplicated and screened for eligibility based on the review's selection criteria. Data charting, collation and summarization were intended to be done in this review, but it could not be done because no relevant literature was found eligible for inclusion into this scoping review. Results: A total of 523 literature were retrieved. After deduplication of the retrieved literatures, the residual literatures (n = 353) were screened for eligibility for inclusion into the review, of which no eligible article was found. Hence, this scoping review was an empty review. Conclusion: This empty scoping review demonstrates that DCPs in Africa do not engage in research-based oral STD prevention. Therefore, the implementation of research-based preventative interventions, by DCPs, on oral STDs should be encouraged in Africa.

13.
J West Afr Coll Surg ; 12(2): 115-118, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36213811

RESUMO

An oronasal fistula is an abnormal opening connecting the oral cavity and the nose. They could occur as complications of oral and maxillofacial procedures. Oronasal fistulas (ONF) are challenging to repair optimally. The repair of a recurrent ONF is more of an enigma in cases where a small defect often requires an extensive surgery to close. Platelet rich fibrin (PRF) was described by Choukroun as a platelet concentrate from autologous blood which forms a single fibrin biomaterial after centrifugation. This haemostatic plug rich in growth factors is easy to prepare, manipulate; and adapt for soft and hard tissue healing. It has been utilized in the various fields of dentistry especially oral and maxillofacial surgery. Reports of role of PRF in the repair of ONF closure are scarce in literature especially in conjunction with other soft tissue flaps. This case report highlights that PRF can be used with success as an adjunct for the closure of ONF fistulas.

14.
Craniomaxillofac Trauma Reconstr ; 15(1): 58-65, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35265279

RESUMO

Study Design: Studies on the concept of Damage Control Surgery (DCS) in the management of firearm injuries to the oral and maxillofacial region are still scarce, hence the basis for the current study. Objectives: The objectives of the current study is to share our experience in the management of maxillofacial gunshot injuries with emphasis on DCS and early definitive surgery. Methods: This was a retrospective study of combatant Yemeni patients with maxillofacial injuries who were transferred across the border from Yemen to Najran, Kingdom of Saudi Arabia. Demographics and etiology of injuries were stored. Paths of entry and exit of the projectiles were also noted. Also recorded were types of gunshot injury and treatment protocols adopted. Data was stored and analyzed using IBM SPSS Statistics for Windows Version 25 (Armonk, NY: IBM Corp). Results: A total of 408 victims, all males, were seen during the study period with 173 (42.4%) males sustaining gunshot injuries to the maxillofacial region. Their ages ranged from 21 to 56 years with mean ± SD (27.5 ± 7.6) years. One hundred and twenty-one (70.0%) victims had extraoral bullet entry, while 53 (30.0%) victims had intraoral entry route. Ocular injuries, consisting of 25 (14.5%) cases of ruptured globe and 6 (3.5%) cases of corneal injuries, were the most commonly associated injuries. A total of 78 (45.1%) hemodynamically unstable victims had DCS as the adopted treatment protocol while early definitive surgery was carried out in 47(27.2%) hemodynamically stable victims. ORIF was the treatment modality used for the fractures in 132 (76.3%) of the victims. Conclusions: We observed that 42.4% of the war victims sustained gunshot injuries. DCS with ORIF was the main treatment protocol adopted in the management of the hemodynamically unstable patients.

15.
J West Afr Coll Surg ; 12(2): 1-6, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36213815

RESUMO

Background: Non-utilization of blood and inappropriate blood transfusion are common in surgical operations. Some surgical procedures are associated with minimal bleeding that does not warrant blood transfusion. No previous study has looked at the pattern of blood loss in noma defect repair to determine the possible need for blood transfusion. Aim/Objectives: This study aimed to determine the total amount of blood loss, the number of units of blood transfused, and the correlation between estimated blood loss and total operating time in patients who had surgical correction of noma defects. Materials and Methods: This is a hospital-based cross-sectional study of 35 patients who underwent surgical correction of noma defects. Age, sex, pre- and post-operative haemoglobin (Hb), number of requested blood units, total operating time, and total estimated blood loss were recorded. The methods used for the blood loss estimation were gauze swabs, Abdo-packs, drapes, and suction bottles. Results: Comparison of the mean pre- and post-operative Hb did not yield any statistically significant difference. The total estimated blood loss in these surgeries was in the range of 65-209 mL, with a mean of 117.20 ± 35.88 mL. No correlation between estimated blood loss and total operating time was noted (P = 0.940). No blood was transfused in any of the subjects. Conclusion: This study observed minimal blood loss in surgical corrections of the soft tissue noma defect. Apart from blood grouping, there may be no need for routine cross-matching of blood pre-operatively for surgical repair of noma defect. However, more studies are needed to buttress this finding.

16.
Sci Rep ; 12(1): 11743, 2022 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-35817949

RESUMO

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. These include novel protein-truncating DNMs in the ACTL6A, ARHGAP10, MINK1, TMEM5 and TTN genes; as well as missense variants in ACAN, DHRS3, DLX6, EPHB2, FKBP10, KMT2D, RECQL4, SEMA3C, SEMA4D, SHH, TP63, and TULP4. Many of these protein-altering DNMs were predicted to be pathogenic. Analysis using mouse transcriptomics data showed that some of these genes are expressed during the development of primary and secondary palate. Gene-set enrichment analysis of the protein-altering DNMs identified palatal development and neural crest migration among the few processes that were significantly enriched. These processes are directly involved in the etiopathogenesis of clefting. The analysis of the coding sequence in the WGS data provides more evidence of the opportunity for novel findings in the African genome.


Assuntos
Fenda Labial , Fissura Palatina , Animais , Encéfalo/anormalidades , Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Camundongos , Mutação , Polimorfismo de Nucleotídeo Único
17.
Craniomaxillofac Trauma Reconstr ; 14(2): 126-134, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33995833

RESUMO

STUDY DESIGN: A retrospective study investigating maxillofacial bone fractures in the pediatric and adolescent population. OBJECTIVE: The aim of this study was to present our experience in the management of pediatric facial bone fractures. METHODS: This was a retrospective study of maxillofacial bone fractures in children and adolescents between the ages <1 year and 19 years in a Saudi Arabian subpopulation. Data collected include demographics, etiology, pattern, and treatment of maxillofacial bone fractures. Data were analyzed using IBM SPSS Statistics for Windows Version 25 (IBM Corp.). Results were presented as simple frequencies and descriptive statistics. RESULTS: Of the 1297 patients with maxillofacial bone fractures, 247 were cases involving children and adolescents giving a prevalence of 19.0% (247 patients, N = 1297). There were 233 males and 14 females with an M:F ratio of 16.6:1. The ages ranged from 9 months to 19 years with a mean ± SD of 14.4 ± 4.6. The age-group between 16 and 20 years had the highest frequency of patients (144 (58.4%)). In the 1- to 5-year group, falls accounted for most of the etiology (15 (6.1%)), while in the 16- to 20-year group, motor vehicular accident (MVA) was the main reason (120 (48.6%)). The majority of the fractures occurred in the mandible with 151(61.1%) cases. Open reduction and internal fixation (ORIF) were the main treatment modality in 171 (69.2%) patients. CONCLUSIONS: MVA was the main etiology of maxillofacial fractures in children and adolescents with male predominance, while the mandible had been the most frequently fractured bone. ORIF was the main treatment modality.

18.
J West Afr Coll Surg ; 11(4): 7-12, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-36188062

RESUMO

Introduction: OHQoL is crucial for the best preoperative assessment and development of suitable indications for mandibular third molar surgical extraction. The current study hopes to report QoL after surgical extraction of impacted mandibular third molars. Materials and Methods: This was a prospective study conducted in the Department of Oral and Maxillofacial Surgery, between January 2020 and April 2020. After consenting to partake in the study, patients' baseline demographics, indication for seeking third molar removal and laterality of impaction were recorded. All the surgical extractions were performed by the same surgeon. Pain was assessed pre and postoperatively with the numerical pain rating scale while QoL was assessed pre and postoperatively using the validated Arabic version of the 16 item United Kingdom Oral Health Related Quality of Life measure (UK-OHQoL). Results: A total of 92 patients were recruited. There are 41 (44.6%) males and 51 (55.4%) females with M:F of 1:1.2. Age range was between 18 and 48 years with a mean of (31.2 ± 6.6) years. Age group 20-29 years constitutes the highest number of patients. Subscales: eating, appearance, sleep, mood and work revealed more percentage complaints (42.9%, 23.4%, 24.7%, 28.6%, and 16.9%, respectively). Regarding mean domain and overall QoL scores, it was observed that there was gradual improvement in mean scores from the Pre-op values and the review periods with best mean QoL reported at POD 14. Conclusion: Improvement in overall mean QoL scores during the review periods as compared with the preoperative score was observed. Eating, appearance, sleep, mood and work subscales revealed more percentage complaints.

19.
Saudi Dent J ; 32(6): 300-305, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32874070

RESUMO

BACKGROUND: The canine plays an important role in dentofacial aesthetics and function. It supports the base of the alar and upper lip, which are necessary for smile aesthetics. When impacted, these functions are lost, leading to low self-esteem and overall poor health-related quality of life. This study was designed to determine the prevalence and pattern of impacted canines in the southwestern region, Kingdom of Saudi Arabia. MATERIALS AND METHODS: This was a retrospective study carried out in a dental center in the southwestern region of Saudi Arabia. A total of 2000 panoramic radiographs were screened, and all patients with impacted canines were further screened both clinically and radiologically (cone beam CT). Demographics, position, laterality, and relationships to the midline were retrieved and recorded. Cone beam CT was used to diagnose palatal or labial impactions. The data were analyzed using IBM SPSS Statistics for IOS Version 25 (Armonk, NY: IBM Corp). RESULTS: A total of 2000 panoramic radiographs were screened, out of which 107 cases were found to have impacted canines, giving a prevalence of 5.35%. There were 38 males and 69 females with a M:F ratio of 1:1.8. Their age ranged from 15 to 75 years with a mean ±â€¯SD age of 20.4 ±â€¯11.1. There were more affected maxillary canines (99 (92.5%)) compared with mandibular canines (8 (7.5%)). Palatal impaction positions were more frequent than labial impactions. CONCLUSION: The prevalence of canine impaction in the southwestern region of Saudi Arabia was 5.35%, with a female preponderance and more palatal positions. The impactions occurred more unilaterally on the left side than on both sides.

20.
Ann Maxillofac Surg ; 10(2): 402-408, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33708586

RESUMO

INTRODUCTION: Special cooperation is required among surgeons and anesthetists in airway management during repair of panfacial fractures, due to problems of shared airway and occlusion. Several methods have been proposed for airway management and sequencing of repair of panfacial fractures. The main objective of the current study was to share our experience in the airway management and sequencing of repair of panfacial fractures. METHODS: This was a retrospective study of panfacial fractures in the Kingdom of Saudi Arabia from January 2008 to December 2018. Data collected included demographics, type of airway management, sequence of repair (as primary variables), and outcome of surgery (secondary variable), while surgeon and anesthetic expertise are confounders. Data were analyzed using IBM SPSS Statistics for Windows Version 25 (Armonk, NY, USA: IBM Corp). Results were presented as simple frequencies and descriptive statistics. Pearson Chi-square was used to compare categorical variables such as airway management and sequencing of repair with the panfacial fractures. Statistical significance was set at P ≤ 0.05. RESULTS: Overall, 1057 patients sustained different categories of maxillofacial bone fractures with 23 females and 1034 males (M:F of 46:1). A total of 43 male patients out of 1057 patients had panfacial fractures during the study period, giving a prevalence rate of 4.1%. Only the 43 male patients with panfacial fractures were analyzed. All cases were as a result of motor vehicular accident. Six (13.9%) patients had tracheostomy while 37 (86.1%) patients had submental intubation. "Bottom-up" and "outside-in" approach was used in 33 (76.7%) patients, while "top-bottom" and "inside-out" approach was used in 10 (23.3%) patients. DISCUSSION: Submental intubation was the major airway management of panfacial fracture, and "bottom-up" and "outside-in" approach was the main sequence of repair in our series. These approaches have been mentioned in the literature. CONCLUSION: From our study, victims of pan-facial fractures were found to be exclusively male with MVA as the sole etiological factor. Barring severe head injuries, which may necessitate the use of tracheostomy to sustain breathing over a longer period, submental intubation is extremely reliable as a mode of airway management during surgical treatment of panfacial fractures. The sequencing of repair of panfacial fractures can only be determined according to the case presentation rather than a predetermined one.

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