TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa

Background. Childhood-onset generalised dystonia is commonly caused by TOR1A mutations and is known to respond well to pallidal deep-brain stimulation (DBS) surgery. The incidence and prevalence of monogenic dystonia in individuals from Africa and specifically of African ancestry are unknown, and no local cases of TOR1A mutation dystonia are found in the literature.Objectives. To describe our experience with the outcome of TOR1A mutation-positive patients with isolated generalised dystonia (IGD) of childhood onset who were treated with pallidal DBS.Methods. All patients with TOR1A mutations from Steve Biko Academic Hospital and the Pretoria Neurology Institute in Pretoria, South Africa (SA), who underwent DBS for IGD of childhood onset were identified. We conducted a retrospective analysis of their demographics, clinical presentation and time to generalisation, genetic status and family history, and response to DBS treatment of the internal segment of the globus pallidus (GPi), utilising pre- and post-surgical scores of the United Dystonia Rating Scale (UDRS).Results. Three patients, all of black African ancestry, were identified. The median age at onset was 12 years and the median time to surgery from dystonia generalisation was 3 years. Two children presented with cervical-onset dystonia. Two patients were related, representing the only two with a positive family history. All three patients had a positive outcome after surgery, with improvement of 67 - 90% on the UDRS recorded at last follow-up.Conclusions. TOR1A mutations are found in SA patients of black African ancestry, with age of onset and generalisation comparable to those described in international studies. However, onset with cervical dystonia was more common than previously reported. Response to GPi DBS was excellent in all patients.

Is it time to reappraise blood pressure thresholds and targets? Statement from the international society of hypertension - a global perspective

No abstract available

A New Galactic 6cm Formaldehyde Maser

We report the detection of a new H2CO maser in the massive star forming region G23.71-0.20 (IRAS 18324-0820), i.e., the fifth region in the Galaxy where H2CO maser emission has been found. The new H2CO maser is located toward a compact HII region, and is coincident in velocity and position with 6.7 GHz methanol masers and with an IR source as revealed by Spitzer/IRAC GLIMPSE data. The coincidence with an IR source and 6.7 GHz methanol masers suggests that the maser is in close proximity to an embedded massive protostar. Thus, the detection of H2CO maser emission toward G23.71-0.20 supports the trend that H2CO 6cm masers trace molecular material very near young massive stellar objects.Comment: Accepted for publication in The Astrophysical Journal Letter

What is the research experience of young scientists in South Africa?

The results of an online survey - the SAYAS Survey of Young Scientists that involved the participation of 1021 postgraduate students and postdoctoral fellows from tertiary institutions in South Africa - were released in a report launched in November 2013. In this commentary we highlight some of the key findings from the report: The Research Experience of Young Scientists in South Africa.

Inflammation and salt in young adults: the African-PREDICT study

Purpose: Low-grade inflammation and a diet high in salt are both established risk factors for cardiovascular disease. High potassium (K+) intake was found to counter increase in blood pressure due to high salt intake and may potentially also have protective anti-inflammatory effects. To better understand these interactions under normal physiological conditions, we investigated the relationships between 22 inflammatory mediators with 24-h urinary K+ in young healthy adults stratified by low, medium and high salt intake (salt tertiles). We stratified by ethnicity due to potential salt sensitivity in black populations. Methods: In 991 healthy black (N = 457) and white (N = 534) adults, aged 20–30 years, with complete data for 24-h urinary sodium and K+, we analysed blood samples for 22 inflammatory mediators. Results: We found no differences in inflammatory mediators between low-, mid- and high-sodium tertiles in either the black or white groups. In multivariable-adjusted regression analyses in white adults, we found only in the lowest salt tertile that K+ associated negatively with pro-inflammatory mediators, namely interferon gamma, interleukin (IL) -7, IL-12, IL-17A, IL-23 and tumour necrosis factor alpha (all p ≤ 0.046). In the black population, we found no independent associations between K+ and any inflammatory mediator. Conclusion: In healthy white adults, 24-h urinary K+ associated independently and negatively with specific pro-inflammatory mediators, but only in those with a daily salt intake less than 6.31 g, suggesting K+ to play a protective, anti-inflammatory role in a low-sodium environment. No similar associations were found in young healthy black adults