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.
The pattern of burn injuries are dynamic and vary between places being influenced by several factors. This informs the need for periodic review of patterns of burn injuries. Predicting burned patients outcome is important to clinical decision making, prognostication as well as optimal hospital resource allocation. Several models of achieving this have been developed, each with varying strengths and shortcomings. This study aims at describing the current pattern of acute burn injury as well as validates the Abbreviated Burn Severity Index (ABSI) as an outcome predictor in burn patients in the study setting. This is an observational study from the database of patients with burn injuries managed at the study institution over a 14 year period. The information analyzed was obtained from the clinical database of burn patients, imputed into computer software SPSS software for analysis. The total number of burn patients seen during the period was 416. Children and teenagers (0 to 20 years) were most commonly affected making up 47.8%. The mean age of patients was 23.4 years (SD=20.1 years). Burn injuries commonly resulted from flame (56%), scald (33%) and electricity (6%). A male, female ratio of 1.7:1. Inhalational injury was present in 15.6% of patients. Overall mortality was 25.2%. ABSI score was effective in the prediction of mortalities. There is an increase in the frequency of electrical burn injuries, as well as severity of burn injuries at the center and ABSI score is an effective predictor of mortality amongst patients with acute burn injury.
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.
Background: Children with cleft lip and palate (CLP) face lots of difficulties in the society. They tend to suffer malnutrition due to lack of standard care especially from their parents and society at-large. The potential risk of malnutrition is particularly high during early childhood. There is paucity of indigenous data on the prevalence of malnutrition in children with CLP. The aim of the study was to assess the influence of non sydromic CLP on the nutritional status of children. Methods: Anthropometric parameters weight for age z score (WAZ), height for age z score (HAZ), weight for height z score (WHZ) of children with CLP were compared with age matched controls. Results: Prevalence of underweight, wasting and stunting for cleft group were 26%, 18% and 14% respectively compared to 18%, 14% and 10% for the control. Differences in the underweight, wasting and stunting between the two groups were not statistically significant (p value = 0.334, 0.585, and 0.538 respectively). There was significant difference in the bottlefeeding and breastfeeding rates of the two groups. (p= 0.000 and 0.000 respectively). Conclusion: There is no statistically significant difference in the occurrence of malnutrition in children with non- syndromic Cleft lip and Palate compared with control.
OBJECTIVE:To review the progress of orofacial cleft care in Nigeria and propose a viewpoint for the future.DESIGN:Review of the available literature on cleft care in Nigeria and survey of the status of ongoing cleft care in Nigerian centers. We employed a pretested self-administered questionnaire sent and returned through electronic mail.PARTICIPANTS:Coordinators of cleft care centers in Nigeria.MAIN OUTCOME MEASURES:Findings of literature search and responses to mailed questionnaires.RESULTS:Available literature suggests that the fate of orofacial cleft patients during the precolonial era in Nigeria remains unclear. However, there is evidence of surgical care delivery just before the end of the colonial era. We identified and contacted 39 existing cleft care delivery centers, of which 30 (76.9%) responded. The majority (69.2%) of the responding centers began cleft care delivery between 2006 and 2010; 73.3% have designated cleft clinic locations and 66.7% offer interdisciplinary care. All responding centers offer cheiloplasty, while 86.7% offer palatoplasty. Other aspects of cleft care are provided sparingly in most centers due to paucity of manpower. Challenges with hospital administration, securing bed and theater spaces, drug availability, and performing laboratory investigations were the common limitations reported.CONCLUSIONS:We advocate for improved cleft care delivery through removing administrative bottlenecks, fortifying existing centers, and mentoring younger colleagues for entry into underserved specialties. Concerted effort and international collaborations aimed at transforming some of the existing cleft centers to standard pediatric craniofacial centers are desirable.
The symptoms of keloids need to be well highlighted especially among African blacks. To outline the symptoms of keloids in Southwest Nigeria with a view to offering adequate treatment to patients by relieving these symptoms. A prospective study of 121 consecutive keloid patients managed in two teaching hospitals in Nigeria was done to assess the symptoms of keloids. Their demographics, site(s) of keloids; and symptoms associated with lesions associated with the lesions were documented. The commonest symptom among the 121 patients was cosmesis, (100.0%) followed by itching, in 35 (28.9%), and then pain in 32 (26.4%) patients, foul smell in 4 (3.3%), heaviness, 6 (5.0%), peppery sensation, 8(6.6%), discharge, 7 (13.5%), tenderness (experienced when keloids are touched intentionally or accidentally), 10 (19.3%), and burning sensation, 10 (19.3%). The chest has the most symptomatic lesions with 15 (28.8%) and 9 (17.3%) patients having painful and itching lesions respectively. Attention needs to be paid to treatment of keloid symptoms which may make life unbearable to patients in addition to overall treatments of these patients. This is in view of the fact that cure is difficult in these lesions. Key words : Keloids, Symptomatology, Black African, Treatment.
Background and objective. Scalp wounds are commonly closed in two layers, although single layer closure is feasible. This study prospectively compared the two methods of closing scalp wounds. Methodology. Patients with non-traumatic scalp wounds were allocated to either the single layer closure group or the multilayer closure group. We obtained relevant data from the patients. The primary outcome measures were wound edge related complications, rate of suturing and cost of sutures used for suturing. Results. Thirty-one wounds were in the single layer closure group and 30 were in the multilayer closure group. Age range was 1–80 years. The most common indication for making a scalp incision was subdural hematoma, representing 27.8% of all the indications. The most common surgery was burr hole drainage of subdural hematoma. Polyglactin acid suture was used for the inner layer and polyamide -00- for the final layer in the multilayer closure group. Only the latter suture was used for the single layer closure method. Total cost of suturing per wound in the single layer closure group was 100 (0.70USD) and 800 (5.30USD) in the multilayer group. The mean rate of closure was 0.39 ± 1.89 mm/sec for single layer closure and 0.23 ± 0.89 mm/sec in multilayer closure. The difference was statistically significant. Wound edge related complication rate was 19.35% in the single layer closure group and 16.67% in the multilayer closure method group. The difference was not statistically significant (z: 0.00, p value: 1.000; Pearson chi-squared (DF = 1)= 0.0075, p = 0.0785). Conclusion. The study shows that closing the scalp in one layer is much faster and more cost effective compared to the multilayer closure method. We did not observe significant difference in the complication rates in the two methods of closure. Long-term outcome, especially cosmetic outcome, remains to be determined in this preliminary study.
INTRODUCTION:Congenital cleft lip and palate (CLP) defects usually present in childhood, especially in places with available and affordable care. In Nigeria, their incidence is low but late presentation in Adult life have been reported. This article aims at reviewing adolescent and adult CLP patients in our center, with the advent of free and available care, and to document the patterns and management outcomes of these patients as an addition to existing literature on the subject of adult CLP. MATERIALS AND METHODS:A retrospective review of adolescent and adult CLP patients managed from May 2006 to April 2010. Demographic data as well as clinical information were retrieved from the hospital records and include the type of cleft deformity, surgical intervention prior to presentation, the type of surgery performed and postoperative outcomes. Some pertinent clinical photos were also reviewed. RESULTS:Adolescent and adults constituted 24% of the 137 patients, their age ranged from 13 to 76 years, with a mean, median and modal age of 28, 22 and 20 years respectively. Unilateral cleft of primary palate was commonest with female preponderance. Most never had surgery, others desired revision surgery or secondary procedures. The outcomes were satisfactory in the 37 procedures performed on 33 patients. CONCLUSION:A relatively high ratio of adolescent and adult clefts is observed. Most of them have never had surgical intervention. Some had failed surgical intervention prior to presentation. Satisfactory outcomes were achieved despite late intervention but failed initial intervention was associated with poorer outcomes.
Keloids commonly occur in black and pigmented races as well as in young adults, but rarely affect Caucasians and albinos. While they have a predilection for the upper trunk as well as the head and neck regions, they seldom occur in the lower limbs. A six-year-old boy presented with multiple fibrous nodular swellings of the right leg and a discharging sinus over the ankle. Closer evaluation revealed underlying chronic osteomyelitis complicated by multiple huge keloids over the leg and ankle. Associated chronic inflammation had resulted in the huge keloids. Our patient's age, site of occurrence and presentation were not typical. In the event that a keloid is presented in isolation, chronic osteomyelitis should be considered as a differential diagnosis, and a high index of suspicion is required in order to establish the diagnosis.
Objective: To present the clinical pattern, treatment approach and outcome of keloid care in our clinical practice. Design: A retrospective study. Setting: Obafemi Awolowo University Teaching Hospital, Ile-Ife, Southwestern Nigeria. Subjects: All patients presenting with keloids during the study period Intervention: The pattern of presentation, modalities of treatment and outcome of care as well as complications and recurrences were documented. Results: Seventy – six patients were studied. Equal male to female ratio. Their ages ranged from 1-75 years with a modal age of 24 years. Lesions presented for treatment were most commonly located in the head and neck region. Itching was the most common symptom. Combination therapy by surgical resection, intralesional triamcinolone injection and superficial radiotherapy was the most common modality of treatment and gave the least rate of recurrence. Conclusions: Combination therapy gave the best outcome in our practice.
Introduction: Assessing treatment outcome is an integral part of audit process in surgical practise. This goes along way in identifying the strengths and weaknesses of adopted protocols and help to improve on them.
Burn injuries continue to be a major source of mortality and morbidity in low- and middle-income countries of the world, of which Nigeria is a part. Overview data on burn care in Nigeria are sparse but the available literature on burns and burn care in Nigeria was retrieved through Internet-based search engines, collated, and reviewed. Peculiarities of epidemiology, types of burn, pattern of injuries, complications, and outcome of burn care were reviewed. There were no broad-based overview statistical data on burns in Nigeria in all the articles reviewed. There was no documentation on the regionalization of care and there were no national databases. All reports on epidemiology were hospital-based. Flame is emerging as the predominant cause of burns, and burn injury is occurring increasingly away from the domestic setting. The severity of the injuries is also increasing. Deliberate burn injury remains a practice and a wide range of complications occur as burns sequelae in Nigeria. Several challenges militate against optimal care for burn victims. Burn injuries continue to contribute significantly to the burden of disease in Nigeria. There is a need for broad-based data collection systems. Avoidable complications are common and mortality remains high. Pooling of resources by regionalization of care could increase focus on burn prevention and improve the care of burn victims. Nongovernmental and governmental support to reduce the burden of burns is advocated.
OBJECTIVE:To determine the knowledge and cultural beliefs about the etiology and management of orofacial clefts in Nigeria's major ethnic groups.DESIGN:Questionnaires designed to elicit respondents' knowledge and cultural beliefs about the etiology and management of orofacial clefts.SETTING:Northern and southern Nigerian communities where the major ethnic groups reside.PARTICIPANTS:Consenting, randomly selected individuals.RESULTS:There were 650 respondents (350 women and 300 men) from 34 of Nigeria's 36 states; 65.5% were aged 21 to 40 years and 52.5% were married. There were Yoruba (33.7%), Igbo/Bini/Urhobo (40.5%), and Hausa/Fulani (25.8%), with most having attained primary and secondary education. Of those responding, 75% had seen an individual with an orofacial cleft. A significant level of ignorance about the cultural beliefs was found. The Hausa/Fulani considered it mostly an act of God; whereas, the Igbo/Bini/Urhobo and Yoruba groups displayed a greater variety of cultural beliefs. The latter groups implicated witchcraft, evil spirit or devil, the mother, and occasionally the child. Of respondents, 40% knew that surgery was a possible solution, and 22% would recommend a visit to the hospital. Respondents with higher educational attainment produced significantly more scientifically related etiologic factors and accurate treatment options.CONCLUSION:Of respondents, 75% were aware of the existence of orofacial clefts, and a fair knowledge of treatment of orofacial clefts was elicited. Diverse cultural beliefs often may present an obstacle to treatment. Improved awareness about the etiology and management of orofacial clefts is required.
We present here the case of a patient with a major traumatic nasal loses who had a near-total nasal reconstruction as a single-stage procedure. A 35 year-old civil servant who was involved in a road trafÞ c injury about two years before presentation. He sustained extensive and multiple facial injuries with complete loss of nasal cover and lining. Reconstruction was performed by using superiorly based, bilateral, nasolabial ß aps to line the ß oor and the nasal septum, and a paramedian forehead ß ap for skin cover. The patient did well postoperatively and was discharged home on the 7th postoperative day. If the principles concerning cover, support, and lining are adhered to, excellent functional and aesthetic results can be achieved as we have obtained in our patient.
Introduction: bilobed flaps are versatile reconstructive tools which have been used extensively in the management of nasal, shoulder and neck defects. Although its use in the cheek has been reported, it is uncommonly utilized.Case report: This is a case report of a 22yr old lady with traumatic left cheek defect managed with the use of a large bilobed flap.Result: The Post-operative outcome was satisfactoryConclusion: Large bilobed flaps should be considered when reconstructing cheek defects.Key Words: Bilobed flap, cheek defect,
Background: Major defects of the lips are challenging to the reconstructive surgeon. The goals in treating total or near total lip defects are reconstruction of the skin, the muscle, the mucosal lining, maintenance of oral competence and an acceptable cosmetic appearance. Six patients with major lip defects from various causes as seen in our practice were successfully managed are discussed. Case reports: Two patients had major lower lip loss following gunshot injuries, one patient had major upper lip defect following blast injury. Two other patients had post excision defects for lip malignancy while the lasthad a congenital midline defect of the upper lip and primary palate. All patients had lip reconstruction using local flaps, no flap loss was recorded and the postoperative appearance was acceptable to them. Conclusion: Functional and aesthetic outcomes appear acceptable when local flaps are employed in lip reconstruction in this black population even with major lip defects.Key words: lip reconstruction, major lip defects
Introduction: Plexiform neurofibroma occurring in the Head and Neck region can be disfiguring, causing cosmetic embarrassment to the affected patients. Surgical management is the mainstay of therapy. This is however a challenging undertaking because of the vascularity and the risk of primary haemorrhage, infiltration of facial soft tissues against the need to preserve functions and maintain aesthesis.Subjects and methods: We present case reports of four patients managed in our institution over the pasttwo years with a discussion on some practical points of management.Results: All the four patients had surgical excision and refashioning. Post–operative results of surgical excision alone are satisfactory.Conclusion: Plexiform neurofibromatosis is a benign tumour of nerve sheath amenable to surgical intervention when attended by meticulous details in well prepared patients.KEYWORDS: Plexiform neurofibromatosis; facial, surgical excision
Background and Objectives: Although the multifactoral concept of the aetiology of cleft lip and palate is widely accepted, its aetiology remains unclear. The roles of diverse exogenous and endogenous factors have been substantiated considerably. This retroprospective observational study was designed to determine the seasonal variation in the conception and birth of individuals with non-syndromic orofacial clefts in a cohort of cleft patients.