Novel polymorphisms in TICAM2 and NOD1 associated with tuberculosis progression phenotypes in Ethiopian populations.

BACKGROUND: Infection by Mycobacterium tuberculosis (Mtb) is a necessary but not sufficient cause for tuberculosis (TB). Although numerous studies suggest human genetic variation may influence TB pathogenesis, there is a conspicuous lack of replication, likely due to imprecise phenotype definition. We aimed to replicate novel findings from a Ugandan cohort in Ethiopian populations. METHOD: We ascertained TB cases and household controls (n = 292) from three different ethnic groups. Latent Mtb infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of TICAM2 and NOD1. RESULT: Significant novel associations were observed between two variants in NOD1 and TB: rs751770147 [unadjusted p = 7.28 × 10-5] and chr7:30477156(T), a novel variant, [unadjusted p = 1.04 × 10-4]. Two SNPs in TICAM2 were nominally associated with TB, including rs2288384 [unadjusted p = 0.003]. Haplotype-based association tests supported the SNP-based results. CONCLUSION: We replicated the association of TICAM2 and NOD1 with TB and identified novel genetic associations with TB in Ethiopian populations.

Lyme disease in a British referral clinic.

BACKGROUND: Concerns about over-diagnosis and inappropriate management of Lyme disease (LD) are well documented in North America and supported by clinical data. There are few parallel data on the situation in the UK. AIM: To describe the patterns of referral, investigation, diagnosis and treatment of patients with suspected LD referred to an infectious disease unit in Liverpool, UK. Previous management by National Health Service (NHS) and non-NHS practitioners was reviewed. DESIGN: Descriptive study conducted by retrospective casenotes review. METHODS: Retrospective casenotes review of adults referred with possible LD to an infectious disease unit in Liverpool, UK, over 5 years (2006-2010). RESULTS: Of 115 patients, 27 (23%) were diagnosed with LD, 38 (33%) with chronic fatigue syndrome (CFS) and 13 (11%) with other medical conditions. No specific diagnosis could be made in 38 (33%). At least 53 unnecessary antibiotic courses had been given by non-NHS practitioners; 21 unnecessary courses had been prescribed by NHS practitioners. Among 38 patients, 17 (45%) with CFS had been misdiagnosed as having LD by non-NHS practitioners. CONCLUSION: A minority of referred patients had LD, while a third had CFS. LD is over-diagnosed by non-specialists, reflecting the complexities of clinical and/or laboratory diagnosis. Patients with CFS were susceptible to misdiagnosis in non-NHS settings, reinforcing concerns about missed opportunities for appropriate treatment for this group and about the use of inappropriate diagnostic modalities and anti-microbials in non-NHS settings.

Magnitude of indoor NO2 from biomass fuels in rural settings of Ethiopia.

UNLABELLED: Half of the world's population and about 80% of households in Sub-Saharan Africa depend on biomass fuels. Indoor air pollution due to biomass fuel combustion may constitute a major public health threat affecting children and women. The purpose of this study was to measure levels of indoor NO(2) concentration in homes with under-five children in rural Ethiopia. The study was undertaken in the Butajira area in Ethiopia from March 2000 to April 2002. 24-h samples were taken regularly at about three month intervals in approximately 3300 homes. Indoor air sampling was done using a modified Willems badge. For each sample taken, an interview with the mother of the child was performed. A Saltzman colorimetric method using a spectrometer calibrated at 540 nm was employed to analyze the mass of NO(2) in field samples. Wood, crop residues and animal dung were the main household fuels. The mean (s.d.) 24-h concentration of NO(2) was 97 microg/m(3) (91.4). This is more than double the currently proposed annual mean of WHO air quality guideline. Highland households had significantly higher indoor NO(2) concentration. This study demonstrates high levels of indoor NO(2) in rural homes of Ethiopia. PRACTICAL IMPLICATIONS: Respiratory infection is a major cause of morbidity and mortality, globally. Acute respiratory symptoms are also related to high levels of air pollution. Interventions aimed at reducing exposure to indoor air pollution should focus on cooking and heating practices in developing countries. This study is not undermining the role of other biomass smoke constituents in determining respiratory infections.