Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

In contrast to the progress that has been made toward understanding the genetic etiology of cleft lip with or without cleft palate, relatively little is known about the genetic etiology for cleft palate only (CPO). A common coding variant of grainyhead like transcription factor 3 ( GRHL3) was recently shown to be associated with risk for CPO in Europeans. Mutations in this gene were also reported in families with Van der Woude syndrome. To identify rare mutations in GRHL3 that might explain the missing heritability for CPO, we sequenced GRHL3 in cases of CPO from Africa. We recruited participants from Ghana, Ethiopia, and Nigeria. This cohort included case-parent trios, cases and other family members, as well as controls. We sequenced exons of this gene in DNA from a total of 134 nonsyndromic cases. When possible, we sequenced them in parents to identify de novo mutations. Five novel mutations were identified: 2 missense (c.497C>A; p.Pro166His and c.1229A>G; p.Asp410Gly), 1 splice site (c.1282A>C p.Ser428Arg), 1 frameshift (c.470delC; p.Gly158Alafster55), and 1 nonsense (c.1677C>A; p.Tyr559Ter). These mutations were absent from 270 sequenced controls and from all public exome and whole genome databases, including the 1000 Genomes database (which includes data from Africa). However, 4 of the 5 mutations were present in unaffected mothers, indicating that their penetrance is incomplete. Interestingly, 1 mutation damaged a predicted sumoylation site, and another disrupted a predicted CK1 phosphorylation site. Overexpression assays in zebrafish and reporter assays in vitro indicated that 4 variants were functionally null or hypomorphic, while 1 was dominant negative. This study provides evidence that, as in Caucasian populations, mutations in GRHL3 contribute to the risk of nonsyndromic CPO in the African population.

Epidemiological studies of burn patients in a burn center in Ghana: any clues for prevention?

BACKGROUND: Burn injuries are a serious problem worldwide, with most occurrences in low- and middle-income countries. Depending on the extent of injury, burn victims are faced with the challenges of fitting into society due to complications such as extensive scarring and contractures. The current study seeks to determine whether epidemiological studies of burn patients can provide guidelines to enhance burn prevention among the Ghanaian population. METHODS: Data from the Burns Registry of the Burns Intensive Care Unit (BICU) of Komfo Anokye Teaching Hospital (KATH) was obtained. Data on sex, age, aetiology, % total body surface area (TBSA), and admission outcomes from May 1, 2009, to April 30, 2013, were retrieved for a total of 487 patients during this period. RESULTS: Data on burn admissions comprising 263 (54.0 %) males and 224 (46.0 %) females were obtained from the Burns Registry. Children 0-10 years were the most affected age group. The yearly mean % TBSA ranged from 24.74 % to 35.07 %. The majority of burns was caused by scalding. Mortality rates ranged from 8.4 % to 32.0 % during the period under review. CONCLUSIONS: The study shows that children of 10 years old and below are the most affected group; this may be due to inattention to these children by parents/caretakers. Safety and safe working environments should be provided at home and workplaces, and promotion of education on burn prevention should be intensified.

Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.

Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with a global incidence of 1 per 700 live births. These anomalies exhibit a multifactorial pattern of inheritance, with genetic and environmental factors both playing crucial roles. Many loci have been implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations of Asian and European ancestries, through genome-wide association studies and candidate gene studies. However, few populations of African descent have been studied to date. Here, the authors show evidence of an association of some loci with NSCL/P and nonsyndromic cleft palate only (NSCPO) in cohorts from Africa (Ghana, Ethiopia, and Nigeria). The authors genotyped 48 single-nucleotide polymorphisms that were selected from previous genome-wide association studies and candidate gene studies. These markers were successfully genotyped on 701 NSCL/P and 163 NSCPO cases, 1,070 unaffected relatives, and 1,078 unrelated controls. The authors also directly sequenced 7 genes in 184 nonsyndromic OFC (NSOFC) cases and 96 controls from Ghana. Population-specific associations were observed in the case-control analyses of the subpopulations, with West African subpopulations (Ghana and Nigeria) showing a similar pattern of associations. In meta-analyses of the case-control cohort, PAX7 (rs742071, P = 5.10 × 10(-3)), 8q24 (rs987525, P = 1.22 × 10(-3)), and VAX1 (rs7078160, P = 0.04) were nominally associated with NSCL/P, and MSX1 (rs115200552, P = 0.01), TULP4 (rs651333, P = 0.04), CRISPLD2 (rs4783099, P = 0.02), and NOG1 (rs17760296, P = 0.04) were nominally associated with NSCPO. Moreover, 7 loci exhibited evidence of threshold overtransmission in NSOFC cases through the transmission disequilibrium test and through analyses of the family-based association for disease traits. Through DNA sequencing, the authors also identified 2 novel, rare, potentially pathogenic variants (p.Asn323Asp and p.Lys426IlefsTer6) in ARHGAP29 In conclusion, the authors have shown evidence for the association of many loci with NSCL/P and NSCPO. To the best of this knowledge, this study is the first to demonstrate any of these association signals in any African population.

Nurses' perceptions and experiences regarding Morphine usage in burn pain management.

INTRODUCTION: Morphine, a classical example of opioid has been described as one of the analgesics of choice for burn pain management but there have been reports of under utilization of the medication and subsequent poor pain management. Nurses have a pivotal role in successful burn pain management and should therefore possess positive perception as well as strong knowledge base of pain care. AIM: In light of this realization, this study sought to investigate the perception and experiences of nurses working in the burns unit possess towards the medication. METHODOLOGY: Purposive sampling approach was used to select twenty (20) nurses. Descriptive and themed content analysis approaches were used to analyze data. RESULTS: Mean years in general nursing practice and practice in the burns unit were obtained as 7.4 and 3.4 years respectively. Results indicate that nurses have a clear understanding of the intensity of burn pain but perception towards morphine was mixed and some respondents were unsure about some of the pertinent facts of morphine and thus, would prefer other medications such as paracetamol, diclofenac and pethidine. Addiction to the medication and morphine causing death were major themes identified. CONCLUSION: The resultant effect of these perception and experiences imply and confirm the under usage of morphine. It is therefore recommended that nurses within the burn unit be taken through training modules on the suitability of morphine in burn pain management.

Strategy of surgical management of peripheral neuropathy form of diabetic foot syndrome in ghana.

Introduction. Foot disorders such as ulceration, infection, and gangrene which are often due to diabetes mellitus are some major causes of morbidity and high amputation. Aim. This study aims to use a group of methods for the management of diabetic foot ulcers (DFU) in order to salvage the lower limb so as to reduce the rate of high amputations of the lower extremity. Materials and Methods. A group of different advanced methods for the management of DFU such as sharp debridement of ulcers, application of vacuum therapy, and other forms of reconstructive plastic surgical procedures were used. Data collection was done at 3 different hospitals where the treatments were given. Results. Fifty-four patients with type 2 diabetes mellitus were enrolled in the current study: females n = 37 (68.51%) and males n = 17 (31.49%) with different stages of PEDIS classification. They underwent different methods of surgical management: debridement, vacuum therapy (some constructed from locally used materials), and skin grafting giving good and fast results. Only 4 had below knee amputations. Conclusion. Using advanced surgical wound management including reconstructive plastic surgical procedures, it was possible to reduce the rate of high amputations of the lower limb.

The status of orofacial cleft care in Ghana.

Orofacial Clefts (OFC) are common congenital facial anomalies. The study seeks to determine the status of care for OFC patients in Ghana. Currently, in addition to the Ministry of Health, there are six Non-Governmental Organizations, which are dedicated to the provision of logistics for the management of cleft patients. As it is possible there could be OFC endemic areas in Ghana, sensitization of the population of the condition and management of this anomaly should be promoted. Persons of OFCs are faced with known challenges, which result in negative self-image that affect their quality of life. Hence educating the general public, in particular pregnant women who access antenatal care in health facilities may reduce ill effects associated with the anomaly. Genetic studies of the anomaly should also be encouraged to help decrease the incidence.

Electrical burns: The trend and risk factors in the Ghanaian population.

The usefulness of electricity in daily life offers several advantages which cannot be underestimated. Electricity is needed by industries for manufacturing and also in homes for lighting, cooking, washing, etc. However, electricity can cause severe life-threatening complications. This study investigates the trend and mortality risk factors of electrical burn injuries at the Burns Intensive Care Unit (BICU) of the Komfo Anokye Teaching Hospital (KATH), Ghana. The Burns Registry at KATH BICU containing information on patients who were admitted for electrical burns was used. Data on the sex, age, occupation, cause of injury, Total Body Surface Area burned (TBSA) and outcome of admissions was obtained. GraphPad version 5 was used for the analysis. There were 13 (2.7%) electrical burns, suffered by 11 males (84.6%) and 2 females (15.4%) out of a total 487 BICU admissions over a 4-year period (July 1, 2009 - June 30, 2013); the mean age of the electrical burn victims was 37.8 years (range = 22-56); the TBSA ranged from 5.0% - 98.0%. Mortality risk factors identified were high voltage electrical burns, older age (P=0.0250) and TBSA>20% (P=0.048). Four cases (30.8%) were transferred to the Main Burns Ward (Ward D2C); 6 cases (46.1%) were discharged home; 3 patients (23.1%) died; all deaths were recorded in persons who had high voltage electrical burns. Electrical burns can be severe and can cause death. Even though the current study showed that a small population was affected by electrical burns, society has to be continually conscious of the detrimental effects of electrical energy and take the necessary precautions to minimize this type of accident.

L'utilité de l'électricité dans la vie quotidienne offre plusieurs avantages qui ne peuvent être sous-estimés. L'électricité est nécessaire par les industries de fabrication et aussi dans les maisons pour l'éclairage, cuisson, lavage, etc. Toutefois, l'électricité peut provoquer de graves complications potentiellement mortelles. Cette étude examine l'évolution et les facteurs de risque de mortalité de brûlures électriques à l'Unité de soins intensifs aux brûlures de l'Hôpital Komfo Anokye, Ghana. Le registre des brûlures contenant des informations sur les patients qui ont été admis pour des brûlures électriques a été utilisé. Les données sur le sexe, l'âge, la profession, la cause de blessure, la surface corporelle total brûlée (SCT) et les résultats d'admissions ont été obtenu. GraphPad Prism 5 a été utilisé pour l'analyse. Il y avait 13 (2,7%) des brûlures électriques, subis par 11 hommes (84,6%) et 2 femmes (15,4%) sur un total de 487 admissions à l'Unité sur une période de 4 ans (du 1er juillet 2009 - 30 Juin, 2013) ; l'âge moyen des victimes de brûlures électriques était de 37,8 ans (extrêmes = 22-56); le SCT variait de 5,0% à 98,0%. Les facteurs de risque de mortalité identifiés pour les brûlures électriques à haute tension étaient: personnes plus âgés (p = 0,0250) et SCT >20% (p = 0,048). Quatre cas (30,8%) ont été transférés à la section principale pour le traitment des brûlures (Ward D2C); 6 cas (46,1%) ont obtenu leur congé; 3 patients (23,1%) sont décédés; tous les décès ont été enregistrés chez les personnes atteintes de brûlures électriques causées par la haute tension. Les brûlures électriques peuvent être graves et peuvent entraîner la mort. Même si l'étude a montré qu'une petite population a été affectée par des brûlures électriques, la société doit être constamment consciente des effets néfastes de l'énergie électrique et doit prendre les précautions nécessaires pour minimiser ce type d'accident.

Awareness and attitudes towards face and organ transplant in Kumasi, Ghana.

OBJECTIVES: This study aimed to determine the level of awareness and attitudes towards face and organ transplant among the people of Kumasi, Ghana. DESIGN: An observational study was employed, where participants were randomly selected for the study. PARTICIPANTS: The respondents were commuters waiting to board public vehicles at the Kejetia lorry station, Bantama/Komfo Anokye Teaching Hospital taxi station, Buokrom Estate F-line lorry station, traders, and residents of Adum and Bantama, all in Kumasi. METHODS: The descriptive study was conducted from 1(st) February to 30(th) April 2009. An interview-based questionnaire was used for the convenient sample of respondents. Data obtained included: demographic profile and items covering awareness, attitudes and beliefs towards face and organ transplant. RESULTS: Out of the 1020 respondents, females (53.2%) outnumbered males. The age of respondents ranged from 10 to 89 years; mean was 27.50± 2.98 years; majority (72.3%) was Christians, whilst 61.8% had gone through tertiary education. Few (33.5%) of the respondents were aware of face transplant; 70.0% and 62.1% were willing to receive a face if their face was disfigured or donate their face when dead respectively. Also, 50.6% were aware of organ transplant, whiles 59.1% would receive/donate an organ when required. Multiple regression analysis shows statistical significant association between attitudes, awareness and demographic variables listed. CONCLUSION: Face and organ transplant were found to have a relatively low and high awareness level respectively. However, an affirmative attitude was recorded for face and organ transplant. More education on face and organ donations is needed.

Breast developmental anomalies in dormaa municipality of ghana: prevalence and impact on the life of the individual.

Background. Breast developmental anomalies (BDAs) are abnormalities of breast tissue that arise during breast development. Some of the anomalies can have negative impact on the person's life. This study seeks to assess the prevalence of BDA in the Dormaa Municipality in Ghana and its impact on the life of the individual. Materials and Methods. A descriptive study involving 500 female respondents aged between 11 and 25 years from selected schools in the Dormaa Municipality using self-administered questionnaires and interviews. Results. From the study, it was found that the prevalence of BDA in the municipality was 12.8%. The commonest BDA was bilateral hypoplasia which accounted for 31.3% of the BDAs found in the study. Nine (14.1%) complained of the BDA affecting their lives with most being teased in school. Twenty-two (34.4%) girls out of the 64 with BDAs had a family member with a BDA. Conclusion. BDA is a worry; therefore, comprehensive educational programs for health workers and the general public are needed to increase awareness. Also, work should be done to include education on BDA when awareness is being raised about breast cancer and on the importance of breast self-Examination (BSE).

Assessment of mortality prediction models in a Ghanaian burn population.

PURPOSE: Over 40 new or modified outcome prediction models have been developed for severe burns; with age, total burned surface area (TBSA) and inhalation area as major determinants of mortality. The objective of this study was to assess their applicability in a developing country. PROCEDURES: Data were collected retrospectively of a consecutive series of 261 patients (2009-2011) admitted to a Burns Intensive Care. Five outcome prediction models based on admission criteria were evaluated: Bull grid, Abbreviated Burn Severity Index--ABSI, Ryan-model, Belgian Outcome in Burn Injury--BOBI and revised Baux. Discriminative power and goodness-of-fit were assessed by receiver operating characteristic analyses (area under the curve--AUC) and Hosmer-Lemeshow tests. FINDINGS: Median age was 10.5 years (IQR: 2.5-27 years), median TBSA 21% (IQR: 11-34%); 55.2% were male, 28 patients died (10.7%). Only 2 patients were intubated (0.8%). The AUC were between 77 and 86%. The ABSI model showed the best calibration (28.7 expected deaths). Ryan, BOBI and rBaux significantly underestimated mortality, whereas Bull showed an overestimation. CONCLUSION: This study on a young group of burn patients showed moderate to good discriminative power using all five prediction models. The expected number of deaths tended to be underestimated in the three most recent prediction models.

Awareness of breast developmental anomalies: a study in Jamasi, Ghana.

BACKGROUND: Few global studies investigating breast developmental anomalies (BDA) among young females have been conducted. This study aimed to evaluate the degree of BDA awareness among young females in central Ghana. METHODS: In February 2008, clinical breast examination was performed for both breasts of female volunteers at five selected junior high schools (JHS) in Jamasi, Ghana. Anonymous pretested questionnaires were administered to those found to have BDA. RESULTS: Of the 600 female students surveyed, 78 (13%) were found to have BDA. All 78 females completed the questionnaire. The respondents ranged in age from 12 to 21 years (mean 15.3 years). Most of the respondents (83%) had some knowledge of BDA. Although 63% had been aware of their own BDA for 1-3 years before the survey; 78% did not know the cause of their BDA. According to their self-reports, BDA had no influence on the schooling of 78.2% or the family of 70.5% of the respondents. CONCLUSION: Awareness of BDA among the JHS females in Jamasi is high. Appropriate education and treatment should be encouraged for continual management of a high awareness level for BDA.

Burn disasters in the middle belt of Ghana from 2007 to 2008 and their consequences.

AIM: To study the survival and mortality trends in four fire disasters in the middle belt of Ghana from 2007 to 2008 and to explore measures that could minimize the risk of future disasters. METHODS: Data were collected from clinical records from the Burns Intensive Care Unit and the Casualty Unit of the Komfo Anokye Teaching Hospital, Kumasi, Ghana and from the various disaster sites and the Ghana Police Service. RESULTS: A total of 212 were injured from four burn disasters; 37 (17%) died on the spot; 175 (83%) reported to the Casualty Unit out of which 46 (26%) were admitted. The victims admitted had mean age 24.6 years with male to female ratio 2.3:1; 25 (54%) of the admitted victims died. The average burned surface area of the admitted victims was 63%, with a mean survival rate of 46%. Statistical analysis for mortality when the surface area of the burn was >70% was 0.0005 (P-value). CONCLUSION: The four petrol-related fire disasters showed variable mortality rates. Death and severe disability of victims of future disasters can be avoided if intensive road accident preventive measures and massive public education are encouraged.

A new era in the management of burns trauma in kumasi, ghana.

The aim of the study was to investigate the factors affecting the outcome of treatment of burns patients admitted to the Burns Intensive Care Unit (BICU) of the Komfo Anokye Teaching Hospital, Kumasi, Ghana. Information on patients admitted to the BICU from February 2001 to January 2006 was recorded. Parameters recorded included: admission record and demographics, causes of the injury, burned surface area, laboratory investigations, treatment regime, and record of discharge/death. The data were analysed with SPSS version 12.0 and Spearman's rank correlation. A total of 826 patients were recorded; males (n = 492, 60%) outnumbered females (n= 334, 40%). The mean age was 10.5 ± 5 yr, the majority (n = 441, 53%) in the range 0-10 yr. Flame burns (n = 587, 71%), scalds (n = 209, 25%), and chemicals (n = 19, 2%) were the three significant causes of burn injuries. The mean range of the total body surface area (TBSA) burned was 11-20%; 94% (n = 775) had up to 60% TBSA; 64% (n = 527) had only wound dressings for treatment; 21% (n = 174) had early excision with skin grafting, while 15% (n = 125) had delayed excision with skin grafting. The majority (n = 563, 68%) of the patients stayed for less than 10 days after admission. The mortality rate fell over the years, decreasing drastically between 2001 (20.4%) and 2002 (8.6%) and remaining at single digit level in 2003 (7.6%), 2004 (7.9%), and 2005 (7.4 %). The factors affecting the mortality trends were proper case management, increases in the number of professional medical personnel, and their greater dedication.

Basic plastic surgery skills for district and community doctors to manage Buruli ulcer in Ghana

Background: The increase in incidence of Buruli ulcer in Ghana has also been complicated by problems in the care of the patients including lack of knowledge and training by staff, unwillingness of the staff to handle the cases for fear of contracting the disease. Method: An evaluation of training workshop on basic plastic surgery skills. Results: Three basic plastic surgery skills training workshops were held in 3 hospitals in 3 different districts in the region with participation from 15 hospitals/health centers drawn from 7 districts of the Ashanti Region. In all 128 health personnel comprising of Doctors ­ 18, Medical Assistants ­ 24, Clinical Nurses ­ 60 and Others ­ 26 were trained. These trainees went on to form the core of the so-called Buruli Ulcer Management Teams (BUMTs), which are now active in 6 of the institutions that participated in the programme. Conclusion: As a result of these workshops active Buruli Ulcer Management Teams (BUMTs) have been formed in 6 health institutions in the region