Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polη, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T>G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.

Conocimientos de la comunidad de un municipio de Santander sobre riesgo y cáncer de piel / Knowledge of the community about risk and skin cancer in a municipality of Santander

Antecedentes: El cáncer de piel no melanoma ocupa el primer lugar en incidencia, con mortalidad baja, pero con morbilidad significativa. Uno de los pilares en el cáncer de piel es la prevención primaria y el principal factor de riesgo es la exposición a la radiación ultravioleta. Se han adelantado campañas de prevención sobre este tema, pero no hay información sobre los conocimientos en la población. Metodología: Se llevó a cabo una jornada de salud en octubre de 2009 en un municipio de Santander, para atender pacientes en diferentes especialidades, entre ellas, dermatología. Se realizó, además de la consulta, una encuesta para evaluar los conocimientos sobre el cáncer de piel. Resultados: Se atendieron 64 pacientes, 70% mujeres (n=45) y 30% hombres (n=19), con predominio de la población adulta en ambos sexos. Las dermatomicosis y las queratosis actínicas fueron el diagnóstico más frecuente, seguidas de nevos, acné y carcinoma basocelular en la cara. La encuesta sobre conocimientos de cáncer de piel la respondieron 115 personas; 96% (n=110) lo conocía. De éstos, 55% consideraron que el cáncer de piel es muy frecuente, 25%, frecuente, 16%, poco frecuente, y 4% no sabía que existía el cáncer de piel. El 80% mencionó que se presenta en ambos sexos; el 11% lo considera más frecuente en mujeres y el 5 %, en hombres; el 4 % no sabe. El 59,2% piensa que se presenta a cualquier edad y 24,4 % considera que sólo afecta a los adultos. El 86,1% considera el sol como factor de riesgo más frecuente. El 45,2% piensa que la complicación más frecuente de padecer cáncer de piel es la muerte; 19,1% no sabe de complicaciones y los restantes consideran el deterioro de la piel, la pigmentación y la deformidad, como secuelas del cáncer. El 62,7% considera la protección solar como la forma más importante de prevenirlo; el 17,4% asume que asistiendo al médico se previene su presentación y el 9% no sabe cómo debe prevenirse el cáncer de piel.

Double blind, randomized controlled trial, to evaluate the effectiveness of a controlled nitric oxide releasing patch versus meglumine antimoniate in the treatment of cutaneous leishmaniasis [NCT00317629].

BACKGROUND: Cutaneous Leishmaniasis is a worldwide disease, endemic in 88 countries, that has shown an increasing incidence over the last two decades. So far, pentavalent antimony compounds have been considered the treatment of choice, with a percentage of cure of about 85%. However, the high efficacy of these drugs is counteracted by their many disadvantages and adverse events. Previous studies have shown nitric oxide to be a potential alternative treatment when administered topically with no serious adverse events. However, due to the unstable nitric oxide release, the topical donors needed to be applied frequently, making the adherence to the treatment difficult. The electrospinning technique has allowed the production of a multilayer transdermal patch that produces a continuous and stable nitric oxide release. The main objective of this study is to evaluate this novel nitric oxide topical donor for the treatment of cutaneous leishmaniasis. METHODS AND DESIGN: A double-blind, randomized, double-masked, placebo-controlled clinical trial, including 620 patients from endemic areas for Leishmaniasis in Colombia was designed to investigate whether this patch is as effective as meglumine antimoniate for the treatment of cutaneous leishmaniasis but with less adverse events. Subjects with ulcers characteristic of cutaneous leishmaniasis will be medically evaluated and laboratory tests and parasitological confirmation performed. After checking the inclusion/exclusion criteria, the patients will be randomly assigned to one of two groups. During 20 days Group 1 will receive simultaneously meglumine antimoniate and placebo of nitric oxide patches while Group 2 will receive placebo of meglumine antimoniate and active nitric oxide patches. During the treatment visits, the medications will be daily administered and the presence of adverse events assessed. During the follow-up, the research group will visit the patients at days 21, 45, 90 and 180. The healing process of the ulcer, the health of the participants, recidivisms and/or reinfection will also be assessed. The evolution of the ulcers will be photographically registered. In case that the effectiveness of the patches is demonstrated, a novel and safe therapeutic alternative for one of the most important public health problems in many countries will be available to patients.