Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.

BACKGROUND: Orofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria. SUBJECTS AND METHODS: DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1 , IRF6 , FOXE1, FGFR1 , FGFR2 , BMP4 , MAFB, ABCA4 , PAX7, and VAX1 , and the chromosome 8q region. RESULTS: A missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other apparent causative variations were identified. Deviation from Hardy Weinberg equilibrium (HWE) was observed in these cases (p = .00002). A significant difference was noted between the affected side for unilateral CL (p = .03) and bilateral clefts and between clefts on either side (p = .02). A significant gender difference was also observed for CP (p = .008). CONCLUSIONS: Replication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the development of CL(P).

Malignant change in chronic irritation: a case series.

BACKGROUND: Chronic irritation is a known cause of malignant change in humans. It is believed that at least a minimum of five years is needed for the evolution of the illness. OBJECTIVE: To present cases of consecutive squamous cell malignant change in patients with various irritations, and to highlight that these cases are not too uncommon in our environment. METHODS: Case reports of patients with definitive treatments offered. Patients had amputation done after incisional biopsies were done to determine the mitotic status of the lesions. RESULTS: The three patients presented late. All had lower limb affectation. Conservatism was difficult, all of them ending up with amputation of the affected limbs. One of them had inguinal lymph node metastasis after the amputation, signifying advanced disease, but unfortunately had to leave hospital because she could not cope with the financial demands of treatment. CONCLUSION: Malignant change from chronic irritations can occur under five years. Education might help early presentation and improved outcome. Our hospitals should provide for the treatment of these group of patients despite their financial status.

Soft Tissue Injuries of the Face in Port Harcourt; Nigeria

Background: This study was carried out in Port Harcourt the centre of several violent activities in the Niger Delta Region of the South-South GeoPolitical Region in Nigeria. In addition; assaults; road traffic accidents and other causes of injuries are common in this environment. Aim: To determine the pattern of soft tissue injuries to the face as seen in the Accident and Emergency Department of the University of Port Harcourt Teaching Hospital. Methods: A retrospective study of all soft tissue injuries to the face seen and managed in the Accident and Emergency Department of the University of Port Harcourt Teaching Hospital from January to December; 2004. Results: A total of 159 cases were studied during this period. Males were 62.9and females (37.1); a ratio of 1.7: 1. Laceration was the commonest type of injury (44.7). Human bite was the commonest cause of injury (33) and RTA was next (31). The forehead was the most injured part of the face (21). Males had more lacerations (75) and were injured more by road traffic accident (78) while females had more human bite (57). Conclusion: Laceration was found to be the commonest type of injury while human bite was the commonest cause. Injuries to the face are very conspicuous and disfiguring. They should be treated very meticulously and comprehensively by the experts

Pattern of cleft lip and palate deformities in Rivers State of Nigeria.

The pattern of congenital cleft lip and/or palate deformities in the Rivers State of Nigeria is being presented. Thirty nine patients seen over four years were retrospectively studied. Similar to the other published African series but unlike the Caucasian series, isolated cleft of the lip was the predominant lesion seen in this study (54%). In contrast, however, to the same African Series the isolated cleft of the palate was only seen in girls (15%). The unusual cleft deformities are highlighted while the significance of associated congenital malformations is examined.

Congenital cleft deformities in Rivers state of Nigeria: is there any association with environmental pollution?

Thirty-nine children with congenital cleft deformities seen at the University of Port Harcourt Teaching Hospital over a four-year period (1984-87) were studied. The majority (69%) of the children came from PHALGA, OTELGA and ALGA, the areas of the state with a high concentration of oil wells, gas flares and a petroleum refinery. There is yet no proof that there is a cause and effect relationship between the deformities and the industrial pollution but attention has been drawn to the association, which may be real or apparent. Further prospective studies are indicated. Apart from the possible role of environmental pollution, other epidemiological factors discussed include parental age, socioeconomic class of the families and the significance of the absence of positive family history of cleft deformities in all the cases studied.

Burn injuries in Port Harcourt, Nigeria.

The pattern of burn injuries in Port Harcourt, Nigeria is presented for the first time. Ninety-two patients were studied and 43 (46.74 per cent) of them were children in the 0-5 years age range. Thirty-seven of the children in this group suffered from scalds and six from flame burns. Petrol fire was the commonest cause of flame burns. The overall mortality was 26.09 per cent and the majority of deaths occurred in burns covering over 50 per cent of the total body surface area. Improved parental supervision of children, in particular toddlers, a more reliable public power supply system, a ban on carrying petrol in open containers in the streets and public enlightenment campaigns are advocated by the authors as preventive measures.