Estado de las enfermedades raras que cursan con discapacidad intelectual en Colombia

Las enfermedades raras o huérfano son una problemática que ha tomado mucha importancia en el contexto mundial del presente siglo, estas se han definido como crónicas, de difícil tratamiento de sus síntomas y con baja prevalencia en la población; muchas de estas enfermedades cursan con varios tipos de discapacidad, siendo el objetivo del presente trabajo el enfocarse en aquellas enfermedades raras que cursan con discapacidad intelectual. Para poder profundizar en estas enfermedades se realizó una revisión teórica sobre las enfermedades raras, así como de la discapacidad psíquica y su importancia a nivel mundial y nacional. A partir de estas definiciones, se revisaron en profundidad 3 enfermedades raras que cursan con discapacidad intelectual en el contexto colombiano, como son: el síndrome de Rett, el síndrome de Prader-Willi y el síndrome de X frágil. En cada una de estas enfermedades además se explicaron los tipos de diagnóstico, intervención, prevención, grupos de apoyo y tipos de evaluación que más se usan en el contexto nacional

Characterizing human cysticercosis in Portugal 2006-2013

Cysticercosis results from the ingestion Taenia solium eggs directly by faecal-oral route or contaminated food or water. While, still considered a leading cause of acquired epilepsy in developed countries, this zoonosis has been controlled or eradicated in industrialized countries due to significant improvements in sanitation, pig rearing and slaughterhouse control systems. We developed a retrospective study on human neurocysticercosis (NCC) hospitalisations based on the national database resulting from National Health Service (NHS) hospital episodes except those of Madeira and Azores Islands. Between 2006 and 2013 there were 357 hospitalized NCC cases in Portugal. Annual frequency of cases between 2006-2013 kept stable (mean 45). NCC was most frequent in those aged 25-34 years (59; 16,5%) and those >75 years (65; 18,2%). Overall, mean age was 47,3 years (median age 45, standard deviation 41,1, mode 28) and 176 cases were in males (49,3%); no significant differences were observed between age and gender (t-student, p>0,05). In Norte Region cases tended to be older than in Lisboa and Vale do Tejo Region. The Directorate-General of Health established the National Observatory of Cysticercosis and Teniiasis which will define criteria for NCC cases monitoring and surveillance (hospitalized and non-hospitalized cases).

Human cysticercosis in Portugal: long gone or still contemporary?

Cysticercosis, a leading cause of acquired epilepsy in developing countries, has been controlled or eradicated in industrialized countries. This paradigm has recently been challenged, with human neurocysticercosis (NCC) being increasingly diagnosed in these countries. In order to assess the NCC burden in Portugal, a retrospective study on NCC hospitalizations (2006–2013) was conducted based on the national database on hospital morbidity: 357 hospitalized cases were detected. NCC was most frequent in the following age groups: 20–64 years (n = 197, 55·2%) >64 years (n = 111, 31·1%), and <20 years (n = 49, 13·7%). In the Norte and Centro regions cases tended to be older than in the Lisboa and Vale do Tejo Region. The results raise concerns for imported and autochthonous disease, suggesting the Lisboa and Vale do Tejo Region, due to its higher frequency of cases at younger ages, as a priority for research and intervention, and further suggest that NCC should be under surveillance (notifiable). The National Observatory of Cysticercosis and Taeniasis has been established and will define NCC cases as well as monitoring and surveillance.

Caracterização farmacognóstica da droga e do extrato fluído de perobinha do campo - Acosmium subelegans (Mohlemb) Yakovl.

Entre as plantas brasileiras empregadas como calmante, tranquilizante, e sedativo do sistema nervoso, destaca-se Acosmium subelegans (Mohlenb.) Yakovi., da família Leguminosae, que consta da Farmacopeia Brasileira, 1. edição, sob o nome de Swetia elegans. Apesar da importância desta planta, não existe ainda padronização de seus extratos nem as caracterizações com vistas a identificação e dosagem dos mesmos. Este último item torna-se muito importante, levando-se em consideração que muitas drogas alcaloides tem o seu teor em alcaloides alterado nas diferentes fases do desenvolvimento da planta. Foram caracterizados macro e microscopicamente a raiz, caule e folha da espécie Acosmium subelegans (Mohlenb.) Yakovi.. Os extratos fluidos foram caracterizados através de cromatografia, resíduo seco, cinzas, pH. densidade e teor alcoólico; foi estabelecido método de quantificação dos alcaloides e pesquisado o teor alcaloidico da planta florida e sem flor. Os alcaloides foram dosados considerando o resultado como sweetinima, principal alcaloide já isolado desta planta.