Design of a short personal assistance model for people with intellectual disabilities in Chile

Personal assistance for people with intellectual disabilities can contribute to the application of the new paradigms of self-determination and social inclusion and to an improvement in the quality of life. Through a literature review and analysis with professional experts, experts from experience and potential users, a brief model of personal assistance was developed to be executed by community agents with professional supervision. The model considers activities in the usual spaces of people and their families, with support for the use of community formal and informal resources and the reinforcement of social support networks that continue operating once the intervention ends. With duration of 9 months, the model is developed through a 3-stage process: 1) engagement and formulation of an individualized plan, 2) implementation of the plan, and 3) participants’ learning reinforcement and transfer to support networks. The feasibility of the model in Latin American countries and the need for studies to evaluate its implementation are discussed.La asistencia personal para personas con discapacidad intelectual puede contribuir a la aplicación de los nuevos paradigmas de autodeterminación e inclusión social y a una mejora de la calidad de vida. Mediante revisión de la literatura y un análisis con expertos profesionales, expertos por experiencia y potenciales usuarios, se elaboró un modelo breve de asistencia personal para ser ejecutado por agentes comunitarios con supervisión profesional. El modelo considera actividades en los espacios habituales de las personas y sus familias, con apoyo para el uso de recursos formales e informales de la comunidad y el refuerzo de redes de apoyo que continúen operando una vez que termine la intervención. Con una duración de 9 meses, el modelo se desarrolla mediante un proceso de 3 etapas: 1) establecimiento de vínculo y elaboración de un plan individualizado, 2) implementación del plan y 3) refuerzo de los aprendizajes de los participantes y traspaso a redes de apoyo. Se discute la factibilidad de la aplicación del modelo en países latinoamericanos y la necesidad de realizar estudios que evalúen su implementación

Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile Porfiria variegata en Chile: Identificación de mutaciones en el gen protoporfirinógeno oxidasa y su implicancia diagnóstica

Variegate porphyria (VP) results from a hereditary deficiency of protoporphyrinogen oxidase (PPOX) that is transmitted in an autosomal dominan fashion. The diagnosis is based on the clinical symptoms and is confirmed biochemically. Sometimes, however, these diagnostic tools reveal limitations in establishing the definitive diagnosis of the prevailing type of acute porphyria. In these patients, molecular genetic analyses can be useful. We performed molecular genetic studies in 13 Chilean families by PCR amplification of the PPOX gene, conformation sensitive gel electrophoresis, and automated DNA sequencing. In five symptomatic patients from different families, respectively, the biochemical data confirmed the diagnosis of VP. In seven other families, however, the biochemical studies were not conclusive. Furthermore, the original biochemical analysis in one clinically severely affected patient from a further family even suggested the diagnosis of erythropoietic protoporphyria (EPP). Besi

Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients

Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients. In patients with porphyria cutanea tarda (PCT), hepatic iron accumulation associated to hereditary hemochromatosis (HH) could play a role in the etiology and in the clinical expression of the disease. The H63D and C282Y mutations of the HFE gene frequency were studied in a PCT group of patients and compared with the frequency observed in a group of volunteer blood donors. PCT patients were cataloged as hereditary or acquired PCT carriers, whether or not they presented uroporphyrinogen decarboxilase gene mutations. Fifty percent of PCT patients were carriers of the disease's genetic type. Such percentage is significantly higher than what other authors have previously informed. H63D and C282Y mutations were present in 23% and 2.4% of the volunteer blood donors, respectively. Similar frequencies were informed by others authors in Chilean white ethnic populations, and also in Spaniard and Argentinean populations, but significantly higher than that observed in Chile's Araucanean aboriginal population. Probably the frequency of H63D and C283Y mutations are related to the Spaniard ascendancy dominance of Chile's white ethnic population. The frequency of HFE gene mutations in PCT patients was not different than what was observed in volunteer blood donors. Similarly, there was no statistical difference in the frequency of these mutations among patients with acquired or genetic PCT disease. With the obtained results, it is not possible postulate an association between PCT and the hereditary hemochromatosis of HFE gene mutations carrier conditions

Hepatocellular carcinoma in variegate porphyria : a serious complication

Variegate porphyria is an acute hepatic porphyria resulting from a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in haem biosynthesis. Cutaneous symptoms and acute neurovisceral attacks are well-known clinical characteristics of the disease. Less studied, however, is the risk of developing hepatocellular carcinoma, an aggressive type of liver cancer. We describe here two Swiss patients with variegate porphyria and this serious complication. Common risk factors, including alcohol over-consumption or chronic hepatitis, were absent in both patients. Interestingly, one patient carried mutation 1082-1083insC in the PPOX gene, a prevalent sequence deviation in the Swiss variegate porphyria population, which was also found in a French patient with variegate porphyria and hepatocellular carcinoma. Recent studies indicate that individuals with acute hepatic porphyria have a 36- to 61-fold increased risk of manifesting hepatocellular carcinoma. The incidence rate ratio in the Swiss population was estimated to be 34, comparable with those found in the French and Finnish populations. Because this tumour is associated with a rising mortality, we suggest regular screening for hepatocellular carcinoma in all patients with variegate porphyria

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept

Hailey-Hailey disease (HHD) is an autosomal dominant trait characterized by erythematous and oozing skin lesions preponderantly involving the body folds. In the present unusual case, however, unilateral segmental areas along the lines of Blaschko showing a rather severe involvement were superimposed on the ordinary symmetrical phenotype. Based on this observation and similar forms of mosaicism as reported in other autosomal dominant skin disorders, we postulated that in such cases, 2 different types of segmental involvement can be distinguished. Accordingly, the linear lesions as noted in the present case would exemplify type 2 segmental HHD. In the heterozygous embryo, loss of heterozygosity occurring at an early developmental stage would have given rise to pronounced linear lesions reflecting homozygosity or hemizygosity for the mutation. By analyzing DNA and RNA derived from blood and skin samples as well as keratinocytes of the index patient with various molecular techniques including RT-PCR, real-time PCR, and microsatellite analysis, we found a consistent loss of the paternal wild-type allele in more severely affected segmental skin regions, confirming this hypothesis for the first time, to our knowledge, at the molecular and cellular level

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma

2.547 JCR (2009) Q1, 8/73 Sport science

A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?

Letters to the EditorArtículo de publicación IS