Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.

Introduction: Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243A>G pathogenic variant in maternally inherited mitochondrial DNA. Diabetes is prevalent in our setting; however, MIDD is rarely diagnosed. This study, undertaken in Pretoria, South Africa, highlights the variable presentation of MIDD in different patients within the same family. Case presentation: A 45-year-old man (proband) with hearing impairment was referred to the endocrine unit in July 2015 due to poor glycaemic control (HbA1c = 13%). His clinical and biochemical features were in keeping with MIDD. A genetic study of accessible maternal relatives was pursued. His mother had difficulty hearing and reportedly died from an unspecified cardiovascular cause. Two sisters with diabetes and deafness died of cardiac-related conditions. One nephew had diabetes (HbA1c = 7.7%), hearing loss and tested positive for m.3243A>G. A third sister tested positive for m3243A>G, but aside from bilateral mild hearing loss in higher frequencies, showed no other signs of target organ damage. Her daughter developed end-stage kidney failure necessitating a transplant, while her son had no biochemical abnormalities and was negative for m.3243A>G. Management and outcome: A multidisciplinary team managed and screened for complications of the patient and his maternal relatives. Proband died prior to genetic testing. Conclusion: Most MIDD patients initially present with symptoms of diabetes only, and it is probable that many cases remain undiagnosed. A high index of suspicion is necessary when encountering a family history of both diabetes and impaired hearing, and screening should be offered to the patient's maternal relatives. What the study adds: This study demonstrates the importance of proper assessment when evaluating a patient with diabetes and a family history of hearing loss.

Multiple Points Change in the Association of Blood Pressure Subtypes with Anthropometric Indices of Adiposity among Children in a Rural Population.

BACKGROUND: Hypertension has gained global significance and risk of cardiovascular disease, and adiposity is the most important of the conditions associated with and considered responsible for hypertension in children. Therefore, the present study aimed to determine whether indices of adiposity independently predicted blood pressure at multiple points in gender-specific groups. METHODS: This was a cross-sectional study involving 10 randomly selected primary schools within the Ellisras Longitudinal Study, and involved 1816 adolescents (876 girls and 940 boys) aged 8 to 17 years. All the anthropometric indices and blood pressures (BP) were examined according to the International Society for the Advancement of Kinanthropometry protocol. RESULTS: In an adjusted linear quantile regression analysis of boys, waist circumference (WC) was associated with BP across all multiple points of systolic blood pressure (SBP). Furthermore, the triceps skinfold site was associated with high SBP. In girls, body mass index (BMI) was significantly associated with SBP after adjustment for potential confounders. Other anthropometric indices of adiposity, including WC, biceps, and triceps skinfold sites were not associated with SBP. CONCLUSIONS: The results of the present study suggest that in black South African children, variables such as WC and triceps skinfold site may provide stronger explanatory capacity to SBP variance and systolic hypertension risk in boys than other adiposity indices; whereas in girls, only WC and BMI predict diastolic blood pressure (DBP) and SBP, respectively.

Ellisras Longitudinal Study 2017: Childhood underweight and blood pressure status in a rural black population of South Africa (ELS 26).

AIM: Childhood underweight is a problem being faced by rural black South African populations but little is known about its risk factors. The aim of this study was to investigate the risk factors related to childhood underweight in rural black South African children within the area known as Ellisras. METHODS: A cross-sectional study was conducted as part of the ongoing Ellisras Longitudinal Study. The current study comprised a total of 1 811 pre-primary and primary school children (934 males and 877 females) aged between five and 16 years. The chi-squared automatic interaction detection (CHAID) decision tree model was used to identify factors and determine their relationships with childhood underweight. RESULTS: A total of 1 811 children were involved in the study, of whom about 81% were severely underweight. The CHAID model showed that the variables: nutrition, age group, gender and school level were the four main predicting variables affecting childhood underweight. Hypertension was not significantly associated with childhood underweight. CONCLUSIONS: The prevalence of childhood underweight was found to be high in children aged between five and 16 years. To address this problem, well-thought-out intervention systems are need.