Incidence of and MODY Variants in a South African Population.

Background And Aim: Maturity-onset diabetes of the young (MODY) is the result of single gene variants. To date, fourteen different MODY subtypes have been described. Variants in genes coding for glucokinase (, MODY2) and hepatic nuclear factor 1 alpha (, MODY3) are most frequently encountered.

Visceral and subcutaneous adipose tissue association with metabolic syndrome and its components in a South African population.

Background And Aims: A number of studies concur that visceral abdominal tissue (VAT) is a metabolic organ that mostly contributes to the metabolic consequences of obesity, however reports regarding subcutaneous adipose tissue (SAT) are controversial. We aimed to investigate the association between computed tomography measured visceral and subcutaneous adipose tissue and metabolic syndrome as well as its individual components.

Methods: Computed tomography at level L4/L5 intervertebral disc space was performed in 401 mixed ancestry individuals from the Bellville South community of Cape Town.

Leucocyte Telomere Length and Glucose Tolerance Status in Mixed-Ancestry South Africans.

Telomeres are DNA-tandem repeats situated at the ends of chromosomes and are responsible for genome stabilization. They are eroded by increased cell division, age and oxidative stress with shortened leucocyte telomeres (LTL) being associated with inflammatory disorders, including Type II diabetes. We assessed LTL in 205 participants across glucose tolerance groups at baseline and after three years in the mixed ancestry population of South Africa which have been shown to have high rates of obesity and T2DM.

Platelet, monocyte and neutrophil activation and glucose tolerance in South African Mixed Ancestry individuals.

Platelet activation has been described in patients with chronic inflammation, however in type 2 diabetes mellitus it remains controversial. We compared levels of platelet leucocyte aggregates, monocyte and granulocyte activation across glucose tolerance statuses in mixed ancestry South Africans. Individuals (206) were recruited from Bellville-South, Cape Town, and included 66% with normal glucose tolerance, 18.

Correlation of E-selectin concentrations with carotid intima-media thickness and cardio-metabolic profile of mixed ancestry South Africans: a cross-sectional study.

Background E-selectin, an adhesion molecule, is a specific marker of endothelial dysfunction. High concentrations have been reported in type 2 diabetes and disorders with high risk of cardiovascular disease (CVD). Measurement of carotid intima-media thickness (CIMT) is a surrogate marker of early atherosclerosis.

Low prevalence of human herpesvirus-6 and varicella zoster virus in blood of multiple sclerosis patients, irrespective of inflammatory status or disease progression.

Herpesviruses, including human herpesvirus-6 and varicella zoster virus, have been implicated in the disease aetiology of multiple sclerosis. These viruses are capable of reactivation, reminiscent of the relapsing-remitting nature of multiple sclerosis. However, viral DNA has also been reported present in healthy controls, often at similar prevalence rates.

Multiple sclerosis-associated retrovirus and related human endogenous retrovirus-W in patients with multiple sclerosis: a literature review.

Human endogenous retrovirus-W and the closely related multiple sclerosis-associated retrovirus have been associated with neuro-inflammatory diseases including multiple sclerosis. However, retroviral expression has been reported in brain tissue from healthy subjects as well. In addition, no consensus has been reached on the endogenous/exogenous status of multiple sclerosis-associated retrovirus, which also needs clarification.

Optimal waist-to-height ratio values for cardiometabolic risk screening in an ethnically diverse sample of South African urban and rural school boys and girls.

Background: The proposed waist-to-height ratio (WHtR) cut-off of 0.5 is less optimal for cardiometabolic risk screening in children in many settings. The purpose of this study was to determine the optimal WHtR for children from South Africa, and investigate variations by gender, ethnicity and residence in the achieved value.

Peripheral blood mononuclear cell membrane fluidity and disease outcome in patients with multiple sclerosis.

Immune cell membrane lipids are important determinants of membrane fluidity, eicosanoid production and phagocytosis and fatty acid metabolic abnormalities have been reported in immune cells from patients with multiple sclerosis. The aim of this study was to investigate the relationship between peripheral blood mononuclear cell membrane fluidity, permeability status, and disease outcome as measured by the Kurtzke expanded disability status scale. Phospholipids, fatty acids and cholesterol composition in peripheral blood mononuclear cells from 26 patients diagnosed with multiple sclerosis and 25 healthy control subjects were determined by colorimetric assay, gas chromatography and enzymatic assays, respectively.

Assessment of Epstein-Barr virus in blood from patients with multiple sclerosis.

Viruses such as Epstein-Barr virus (EBV) which can establish latent infections in the central nervous system or the immune system have been associated with chronic neurological disorders, including multiple sclerosis. Results vary, therefore the aim of this study was to investigate the presence of EBV using both viral DNA and antibody screening techniques, using PCR and ELISA assays respectively, to evaluate viral presence in blood from control subjects and patients with multiple sclerosis. Viral gene sequences for latent proteins EBNA-1 and LMP-1 and lytic gene BamH1-W were present equally in both patients and controls (<7%).

Monounsaturated fatty acids in blood cell membranes from patients with multiple sclerosis.

The aim of this study was to investigate whether blood cell membrane monounsaturated fatty acids were associated with inflammation and disease outcome in patients with multiple sclerosis. The fatty acid composition in peripheral blood mononuclear cell and red blood cell membranes from 26 patients and 25 controls were determined by gas chromatography. Results showed positive associations between C-reactive protein and C16:1n-7, C18:1n-7, and C24:1n-9 in membranes from controls only.

Red blood cell membrane fluidity in the etiology of multiple sclerosis.

Organisms adjust the order, or fluidity, of their cellular membranes in response to changes in their physiochemical environment by adjusting the lipid composition of their membranes. We investigated membrane fluidity using the phospholipid, fatty acid and cholesterol content of red blood cells (RBCs) from multiple sclerosis (MS) patients and correlated this with C-reactive protein (CRP) as well as with the severity of neurological outcome as measured by the Kurtzke Expanded Disability Status Scale (EDSS) and its Functional System Scores. The study group consisted of 31 patients with MS and 30 healthy control subjects.