Photodynamic therapy in the management of a patient with Gorlin syndrome (naevoid basal cell carcinoma syndrome)

Gorlin syndrome (naevoid basal cell carcinoma syndrome) is a genetically linked disorder characterized by the development of multiple basal cell carcinomas (BCCs) throughout life. Cumulative surgery, cryotherapy and other conventional interventions can result in significant disfigurement by middle age. Radiotherapy is contra-indicated because the mutated gene underlying the syndrome, ‘PTCH’, increases sensitivity to ionising radiation, so there is significant likelihood of inducing further tumours in and around the irradiated area. Photodynamic therapy offers a non-invasive treatment option for patients with this condition, with the added advantage of causing minimal scarring.     

Smoking patterns in the coloured population of the Cape Peninsula (CRISIC study)

A cross-sectional study of tobacco-smoking habits in a random sample of 976 coloured subjects aged 15-64 years revealed that smoking was common, 57% of men and 41% of women being current smokers and 10.4% of men and 9.6% of women having stopped smoking. Heavy smoking prevailed, indicating by mean daily consumption of 14.2 and 13.1 cigarettes among male and female smokers respectively; only 33.5% of male and 39.6% of female smokers used less than 10 cigarettes per day. Coloured smokers smoked more heavily during the weekend. Both men and women smoked mostly filter cigarettes. Forty-four per cent of male and 49.5% of female smokers stated that they had attempted to stop smoking, mainly for health reasons. More than one-third of the participants had a positive attitude to combating smoking, particularly those with an educational level higher than Standard 7. Former smokers and heavy smokers had a significantly higher prevalence of ischaemic heart disease than the other participants. Smoking was associated with a low body mass index, low high-density lipoprotein cholesterol levels, low socio-economic standing, high alcohol consumption and type A coronary-prone behaviour in men. In 1982 the economically active coloured population of the Cape Peninsula spent an estimated R36.2 million on cigarettes.     

Are clinical differences between black and white stroke patients caused by variations in the atherosclerotic involvement of the arterial tree?

The differences in site and degree of atherosclerotic involvement of various vascular beds and their clinical significance are emphasised in a study of 304 black stroke patients. Detailed clinical examinations, computed tomography (CT), gated blood pool studies, echocardiography and ECG were performed and autopsy studies carried out. CT of the brain showed that non-haemorrhage, i.e. ischaemic lesions, accounted for 71.2% of strokes, a similar figure to that found in white stroke patients. However, carotid bruits (0.62%) and peripheral vascular disease (0.9%) followed by transient ischaemic attacks (1.9%) were found to be uncommon. Similarly, ischaemic heart disease (6.9%) appeared to be less common than the incidence in reported white stroke patients. In 30 patients who came to autopsy, the maximum degree of atherosclerotic stenosis of the extracranial carotid arteries was 21.7% of the lumen diameter. The differences in the site and degree of atherosclerosis in blacks not only give rise to differences in the clinical features of stroke patients but may have an important bearing on their investigation, management and prognosis.     

Risk factors and coronary heart disease in Durban blacks--the missing links.

Coronary heart disease (CHD) is still relatively uncommon in the black population of South Africa. We embarked on a study to determine the prevalence of risk factors leading to CHD in the black population of Durban. The study sample was selected from patients attending a dental clinic at a hospital. A total of 458 patients (age range 16-69 years) was studied. The prevalence of CHD was 2.4%. The percentage prevalences of selected risk factors were: hypertension (blood pressure > or = 140 mmHg systolic and/or > or = 90 mmHg diastolic) 28% (31.9% for males, 25.4% for females); protective levels of high-density lipoprotein/total cholesterol > or = 20%, 81.3%; diabetes mellitus 4.9% for males, 2.9% for females; smoking > or = 10 cigarettes per day 28.1% for males, 3.4% for females; obesity 3.7% for males 22.6% for females. We found the Minnesota Coding System for electrocardiographic changes of CHD and the Rose questionnaire to be unreliable for eliciting CHD in blacks. Hypercholesterolaemia is less common, and this may explain the low incidence of CHD in blacks. Epidemics of CHD as seen in Indian, coloured and white South Africans can still be prevented in the black population, but preventive measures must be instituted rapidly.     

Evaluation of the integrated 3-hour plasma cortisol concentration as a test for Cushing's syndrome

Twenty-four hour urinary free cortisol and mean and integrated 13h00-16h00 plasma cortisol levels were measured in 9 patients with proven Cushing's syndrome (5 with Cushing's disease, 2 with ectopic adrenocorticotrophic hormone production due to bronchial carcinoma and 2 with adrenal adenomas) and in 21 patients without Cushing's syndrome. The 24-hour urinary free cortisol levels and mean and integrated 13h00-16h00 plasma cortisol estimations clearly distinguished patients with Cushing's syndrome from those without. However, adequate suppression on dexamethasone suppression tests (false negatives) were obtained in 3 of the 9 patients with Cushing's syndrome. Since the integrated 13h00-16h00 plasma cortisol estimation is cheaper and simpler than the mean 13h00-16h00 plasma cortisol estimation, we recommend it as an adjunct in the diagnosis of Cushing's syndrome.     

Huntington disease in South African blacks. A report of 8 cases

Huntington chorea is rare in ethnically pure blacks; 8 South African black patients, 6 adults and 2 children, from 4 families are described. The symptoms do not appear to differ materially from Huntington chorea in other races. Increased awareness of the disease in this population group is warranted.     

Chorea and psychiatric changes in organophosphate poisoning. A report of 2 further cases

The acute muscarinic and nicotinic side-effects of organophosphate poisoning are well known. Less commonly encountered are neurological symptoms such as chorea and psychiatric disturbances such as psychoses and depression. Two patients with organophosphate poisoning are described, both exhibiting marked choreiform dyskinesias and one experiencing severe depression and emotional lability. Both responded well to the appropriate treatment. Because of the widespread use of organophosphate insecticides in agriculture, the neurological and psychiatric effects of chronic low-dose exposure to organophosphates in farmers and their employees deserves attention.     

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.