Clinical and molecular analysis in Papillon-Lefèvre syndrome.

Papillon-Lefèvre syndrome (PLS; MIM#245000) is a rare recessive autosomal disorder characterized by palmar and plantar hyperkeratosis, and aggressively progressing periodontitis leading to premature loss of deciduous and permanent teeth. PLS is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. PLS clinical expressivity is highly variable and no consistent genotype-phenotype correlation has been demonstrated yet. Here we report the clinical and genetic features of five PLS patients presenting a severe periodontal breakdown in primary and permanent dentition, hyperkeratosis over palms and soles, and recurrent sinusitis and/or tonsillitis. Mutation analysis revealed two novel homozygous recessive mutations (c.947T>C and c.1010G>C) and one previous described homozygous recessive mutation (c.901G>A), with parents carrying them in heterozygous, in three families (four patients). The fourth family presented with the CTSC c.628C>T mutation in heterozygous, which was inherited maternally. Patient carrying the CTSC c.628C>T mutation featured classical PLS phenotype, but no PLS clinical characteristics were found in his carrier mother. All mutations were found to affect directly (c.901G>A, c.947T>C, and c.1010G>C) or indirectly (c.628C>T, which induces a premature termination) the heavy chain of the cathepsin C, the region responsible for activation of the lysosomal protease. Together, these findings indicate that both homozygous and heterozygous mutations in the cathepsin C heavy chain domain may lead to classical PLS phenotype, suggesting roles for epistasis or gene-environment interactions on determination of PLS phenotypes.

History of malaria research and its contribution to the malaria control success in Suriname: a review.

Suriname has cleared malaria from its capital city and coastal areas mainly through the successful use of chloroquine and DDT (dichloro-diphenyl-trichloroethane) during the Global Malaria Eradication programme that started in 1955. Nonetheless, malaria transmission rates remained high in the interior of the country for a long time. An impressive decline in malaria cases was achieved in the past few years, from 14,403 registered cases in 2003 to 1,371 in 2009. The introduction of artemisinin-based combination therapy (ACT) in 2004 has further fuelled the decrease in the number of infections with Plasmodium falciparum. The only population group still heavily burdened with malaria is gold mining industry workers. Interestingly, an important part of malaria cases diagnosed and treated in Suriname originate from border regions. Therefore, practical initiatives of combined efforts between neighbouring countries must be scaled up in order to effectively attack these specific areas. Furthermore, it is of vital importance to keep investing into the malaria control programme and public awareness campaigns. Especially the correct use of ACT must be promoted in order to prevent the emergence of resistance. However, effective preventive measures and adequate therapeutic options are on their own not enough to control, let alone eliminate malaria. Changing personal and social behaviour of people is particularly difficult, but crucial in making the current success sustainable. With this in mind, research on successfully implemented interventions, focusing on behavioural modifications and methods of measuring their effectiveness, must be expanded.

The relative effect of self-management practices on glycaemic control in type 2 diabetic patients in Mexico.

OBJECTIVE: In this study, we examined the relative impact of self-management activities on glycaemic control in a population at high risk for developing complications. METHODS: Patients diagnosed with diabetes mellitus of at least 1 year in duration at 30 years of age or older were sampled from the Instituto de Mexico Seguro Social (IMSS) Family Medicine Clinics in Guadalajara, Mexico (n=800). Demographic, clinical and health behaviour variables were used to predict good/poor glycaemic control, as measured by haemoglobin Alc (A1C). RESULTS: Most (72.24%) patients had poor control (A1C > or = 7.0). Hyperglycaemia was significantly associated with factors not under patient control, such as having diabetes for a longer time [odds ratio (OR) = 2.40, 95% confidence interval (CI) 1.39, 4.14], having a first-degree relative with diabetes (OR= 1.52; 95% CI 1.06, 2.19), and being prescribed anti-diabetic medications, e.g. insulin (OR = 7.88, 95% CI 2.42, 25.63). After controlling for these variables, the only self-management variable that reduced the likelihood of hyperglycaemia was following a special diet (OR=0.49; 95% CI 0.32, 0.76). Furthermore, depression had an important effect on self-management, as those with lower levels of depressive symptoms were more likely to follow a diet and exercise. DISCUSSION: While patients in this population have little control over many factors associated with glycaemic control, an important exception is diet. However, because of the adverse effect of depression on dieting, both depression management and dietary education are important for this population.