Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7.

Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin 7 gene, leading to a pathogenic polyglutamine tract within the ataxin 7 protein. SCA7 patients suffer from progressive cerebellar ataxia and macular degeneration. SCA7 is considered to be rare, although founder effects have been reported in South Africa, Scandinavia and Mexico. The South African SCA7-associated haplotype has not been investigated in any other populations, and there have been limited reports of SCA7 patients from other African countries. Here, we describe the first two ethnic Zambian families with confirmed SCA7. Haplotype analysis showed that the South African SCA7 haplotype alleles were significantly associated with the pathogenic expansion in affected Zambian individuals, providing strong evidence for a shared founder effect between South African and Zambian SCA7 patients.

Neglected tropical diseases: comparison of the costs of integrated and vertical preventive chemotherapy treatment in Niger.

BACKGROUND: This study presents evidence on the cost of integrated preventive chemotherapy treatment (PCT) to control trachoma, schistosomiasis, lymphatic filariasis and soil-transmitted helminthiasis (STH) in Niger. Integrated PCT costs are compared with the costs of vertical PCT control. METHODS: Data were analysed for the integrated PCT of 2008 and 2009 in six districts. Receipts, treatment registers, coverage forms and drug registers provided cost and treatment information. Economic costs of the time spent on campaign activities by government staff was derived from a survey of 56 staff. Integrated control costs were compared with vertical programmes undertaken in 2005 using 2009 constant prices. RESULTS: The average economic cost of integrated PCT was US$0.19/treatment excluding drugs (US$0.38 for a district with two drug treatments). The average financial cost was US$0.09/treatment (US$0.18 for a district with two drug treatments).The average financial cost of vertical treatment was US$0.167 for trachoma, US$0.10 for schistosomiasis and STH and US$0.075 for lymphatic filariasis. The integrated programme had savings of 16% and 21% in programme costs in 2008 and 2009, respectively, compared with the vertical programmes. CONCLUSION: Further work is needed to forecast the effectiveness of alternative long-term integrated treatment strategies for control and/or elimination of neglected tropical diseases.

Exploring gender dimensions of treatment programmes for neglected tropical diseases in Uganda.

BACKGROUND: Gender remains a recognized but relatively unexamined aspect of the potential challenges for treatment programmes for Neglected Tropical Diseases (NTDs). We sought to explore the role of gender in access to treatment in the Uganda National Neglected Tropical Disease Control Programme. METHODOLOGY/PRINCIPAL FINDINGS: Quantitative and qualitative data was collected in eight villages in Buyende and Kamuli districts, Eastern Uganda. Quantitative data on the number of persons treated by age and gender was identified from treatment registers in each village. Qualitative data was collected through semi-structured interviews with sub-county supervisors, participant observation and from focus group discussions with community leaders, community medicine distributors (CMDs), men, women who were pregnant or breastfeeding at the time of mass-treatment, and adolescent males and females. Findings include the following: (i) treatment registers are often incomplete making it difficult to obtain accurate estimates of the number of persons treated; (ii) males face more barriers to accessing treatment than women due to occupational roles which keep them away from households or villages for long periods, and males may be more distrustful of treatment; (iii) CMDs may be unaware of which medicines are safe for pregnant and breastfeeding women, resulting in women missing beneficial treatments. CONCLUSIONS/SIGNIFICANCE: Findings highlight the need to improve community-level training in drug distribution which should include gender-specific issues and guidelines for treating pregnant and breastfeeding women. Accurate age and sex disaggregated measures of the number of community members who swallow the medicines are also needed to ensure proper monitoring and evaluation of treatment programmes.

Schistosomiasis and soil-transmitted helminth control in Niger: cost effectiveness of school based and community distributed mass drug administration [corrected].

BACKGROUND: In 2004 Niger established a large scale schistosomiasis and soil-transmitted helminths control programme targeting children aged 5-14 years and adults. In two years 4.3 million treatments were delivered in 40 districts using school based and community distribution. METHOD AND FINDINGS: Four districts were surveyed in 2006 to estimate the economic cost per district, per treatment and per schistosomiasis infection averted. The study compares the costs of treatment at start up and in a subsequent year, identifies the allocation of costs by activity, input and organisation, and assesses the cost of treatment. The cost of delivery provided by teachers is compared to cost of delivery by community distributers (CDD). The total economic cost of the programme including programmatic, national and local government costs and international support in four study districts, over two years, was US$ 456,718; an economic cost/treatment of $0.58. The full economic delivery cost of school based treatment in 2005/06 was $0.76, and for community distribution was $0.46. Including only the programme costs the figures are $0.47 and $0.41 respectively. Differences at sub-district are more marked. This is partly explained by the fact that a CDD treats 5.8 people for every one treated in school. The range in cost effectiveness for both direct and direct and indirect treatments is quantified and the need to develop and refine such estimates is emphasised. CONCLUSIONS: The relative cost effectiveness of school and community delivery differs by country according to the composition of the population treated, the numbers targeted and treated at school and in the community, the cost and frequency of training teachers and CDDs. Options analysis of technical and implementation alternatives including a financial analysis should form part of the programme design process.