Accuracy of pulse oximetry in pigmented patients

Objective. Prospective assessment of the accuracy of three pulse oximeters and  two probe sites in darkly pigmented critically·i11 patients under clinical conditions.Patients and methods. One hundred consecutive, darkly pigmented critically ill adutt patients with arterial lines in situ were studied. Patients were excluded if thehaemoglobin concentration was less than 7 g/dl and carboxyhaemoglobin or  methaemoglobin levels exceeded 2%. Pigmentation was objectively quantified with a portable EEL reflectance spectrophotometer (Evans E1ectroselenium Company, Diffusion Systems Limited. London). Reflectance was measured at nine wavelengths.Results. The degree of pigmentation as measured by percentage reflectance closely matched that of a control group of black Africans from a pigmentation study. The limits of agreement (2.6% to 5.8%), precision and bias values between pulse  oximeter and co-ox!meter readings fell within a narrow range. The 95% confidence intervals of the limits of agreement reflected a small variation in the difference between pulse oximeter and co-oximeter readings. These small differences were not clinically. significant in the pigmented patients who were enrolled in the study.Conclusion. The accuracy of pulse oximetry is not adversely affected by skin  pigmentation, and it remains a useful oxygenation monitoring device in darkly pigmented patients

Types of albinism in the black Southern Africa population

Background: Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis.Objectives: To investigate and classify the different types of albinism commonly found and to determine the clinical implications for each type.Design: A descriptive survey.Setting: Gauteng province, South Africa, and Lesotho.Subjects: Three groups of subjects with OCA (96 from a genetics clinic, 62 from a dermatology clinic, and 31 from community surveys) from the black African population participated.Main outcome measures: Subjects underwent clinical and/or dermatological examinations and were then classified according to type of OCA.Results: Four forms of OCA were identified: most (82%) subjects had OCA2 (a tyrosinasepositive type) with three sub-types: those without large freckles (ephelides) on exposed areas (named OCA 2a in this study), those with such freckles (named OCA 2b), and those with brown albinism (BOCA); the remainder had red/ rufous albinism, ROCA (OCA 3). The four forms could be distinguished from each other clinically without using molecular genetic testing.Conclusion: The most common types of albinism found in the black population of Southern Africa are OCA 2 and OCA 3. Given the high prevalence of the disorder, together with the high risk of skin cancer, and the recent persecution of affected individuals in certain East African countries, these findings and their clinical implications have significance in terms of both education and awareness for health professionals andlay people caring for those with albinism

The role of the genetic counsellor: a systematic review of research evidence

In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms

Epilepsy in rural South African children prevalence, associated disability and management

Objective. To determine the prevalence of epilepsy and its associated disabilities in rural South African children aged 2 - 9 years.Setting. Eight villages in the district of Bushbuckridge, Northern Province, South Africa_Design. A two-phase design was used_ The first phase involved screening children on a house-to-house baSis by interviewing mothers or caregivers using an internationally validated questionnaire for detecting childhood disability in developing countries. The second phase consisted of a paediatric/ neurodevelopmental assessment of the children who screened positive.Results. A total of 6692 children were screened; 722 (10.8%) had a paediatric evaluation and 49 (0.73%) had epilepsy. The· lifetime and active prevalences of epilepsy in these children were 7.3/1 000 and 6.7/1 000 respectively. Associated developmental disability was recorded in 35 affected children (71.4%), including 8 (16.3%) in whom this was moderate to severe. More than a half of the children with epilepsy (57.1%) did not receive anticonvulsant medication.Conclusion. The prevalence of epilepsy in the rural childhood population investigated is higher than that recorded in most similar studies from sub-Saharan Africa, and the poor utilisation of 'appropriate anticonvulsant treatment is cause for concern. This study highlights the paucity of relevant information on the epidemiology of epilepsy in South Africa and that the system available for its management, especially in rural areas, appears to have functional deficiencies. Appropriate research is needed to identify the problems in service delivery and to enable the planning and implementation of an appropriate primary health care-based system for the diagnosis and management of epilepsy in children

Skin Cancers Among Albinos at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 64 Cases.

Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed. The aim of this study was to outline the pattern and treatment outcome of skin cancers among albinos treated at our centre and to highlight challenges associated with the care of these patients and proffer solutions for improved outcome. This was a retrospective study of all albinos with a histopathological diagnosis of skin cancer seen at Bugando Medical Centre from March 2001 to February 2010. Data collected were analyzed using descriptive statistics. A total of 64 patients were studied. The male to female ratio was 1.5:1. The median age of patients was 30 years. The median duration of illness at presentation was 24 months. The commonest reason for late presentation was financial problem. Head and the neck was the most frequent site afflicted in 46(71.8%) patients. Squamous cell carcinoma was the most common histopathological type in 75% of cases. Surgical operation was the commonest modality of treatment in 60 (93.8%) patients. Radiotherapy was given in 24(37.5%) patients. Twenty-seven (42.2%) of the patients did not complete their treatment due to lack of funds. Local recurrence following surgical treatment was recorded in 6 (30.0%) patients. Only thirty-seven (61.7%) patients were available for follow-up at 6-12 months and the remaining patients were lost to follow-up. Skin cancers are the most common cancers among albinos in our environment. Albinism and exposure to ultraviolet light appears to be the most important risk factor in the development of these cancers. Late presentation and failure to complete treatment due to financial difficulties and lack of radiotherapy services at our centre are major challenges in the care of these patients. Early institution of preventive measures, early presentation and treatment, and follow-up should be encouraged in this population for better outcome

Histological Review of Skin cancers in African Albinos: A 10-year Retrospective Review.

Skin cancer is rare among Africans and albinism is an established risk for skin cancer in this population. Ultraviolet radiation is highest at the equator and African albinos living close to the equator have the highest risk of developing skin cancers. This was a retrospective study that involved histological review of all specimens with skin cancers from African albinos submitted to The Regional Dermatology Training Center in Moshi, Tanzania from 2002 to 2011. A total of 134 biopsies from 86 patients with a male to female ratio of 1:1 were reviewed. Head and neck was the commonest (n = 75, 56.0%) site affected by skin cancers. Squamous cell carcinoma (SCC) was more common than basal cell carcinoma (BCC) with a ratio of 1.2:1. Only one Acral lentiginous melanoma was reported. Majority (55.6%) of SCC were well differentiated while nodular BCC (75%) was the most common type of BCC. Squamous cell carcinoma is more common than basal cell carcinoma in African albinos

Skin cancers in albinos in a teaching Hospital in eastern Nigeria - presentation and challenges of care

<p>Abstract</p> <p>Background</p> <p>Albinism is a genetic disorder characterized by lack of skin pigmentation. It has a worldwide distribution but is commoner in areas close to the equator like Nigeria. Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. Challenges faced in the care of these patients need to be highlighted in order to develop a holistic management approach with a significant public health impact. The aim of the study was to determine the pattern of skin cancers seen in Albinos, and to highlight problems encountered in their management.</p> <p>Method</p> <p>Case records of albinos managed in Imo state University teaching Hospital from June 2007 to May 2009 were reviewed. The data obtained was analyzed using descriptive statistics.</p> <p>Results and discussion</p> <p>In the period under review, albinos accounted for 67% of patients managed for primary skin cancers. There were twenty patients with thirty eight (38) lesions. Sixty one percent of the patients were below 40 years. Average duration of symptoms at presentation was 26 months. The commonest reason for late presentation was the lack of funds. Squamous cell carcinoma was the commonest histologic variant. Most patients were unable to complete treatment due to lack of funds.</p> <p>Conclusion</p> <p>Albinism appears to be the most important risk factor in the development of skin cancers in our environment. Late presentation and poor rate of completion of treatment due to poverty are major challenges.</p

An overview of concepts and approaches used in estimating the burden of congenital disorders globally.

Congenital disorders are an important cause of pregnancy loss, premature death and life-long disability. A range of interventions can greatly reduce their burden, but the absence of local epidemiological data on their prevalence and the impact of interventions impede policy and service development in many countries. In an attempt to overcome these deficiencies, we have developed a tool-The Modell Global Database of Congenital Disorders (MGDb) that combines general biological principles and available observational data with demographic data, to generate estimates of the birth prevalence and effects of interventions on mortality and disability due to congenital disorders. MGDb aims to support policy development by generating country, regional and global epidemiological estimates. Here we provide an overview of the concepts and methodological approach used to develop MGDb