Clinical utility gene card for McArdle disease.

Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in⊠ diagnostic,⊠ predictive and⊠ prenatal settings and for⊠ risk assessment in relatives.

[Prevalence of Candida albican serotypes in blood isolates in Chile, and first report of Candida dubliniensis candidemia]. / Prevalencia de serotipos de Candida albicans en aislamientos de hemocultivos en Chile y primer caso de candidemia por Candida dubliniensis.

Our main goal was to determine the prevalence of C. albicans serotypes isolates from blood cultures and identify the presence of C. dubliniensis. We studied 47 strains identified as C. albicans by conventional methods, 28 were isolated from children and 19 from adult patients. The strains were re-identified by standard methods and phenotypic screening as xylose assimilation and growth at 42 degrees C. API ID 32C (bioMérieux) was employed with the C. dubliniensis suspected strains and confirmation was made by molecular fingerprinting using random amplified polymorphic DNA (RAPD). The C. albicans serotype was determined by agglutination with antiserum anti-antigen 6 from cell wall (Candida Check, Iatron Inc., Japan) and the in vitro susceptibilities were evaluated by a microdilution method. From 47 strains, 46 were confirmed as C. albicans, 31 of them (67%) were serotype A. Adult patients presented a high prevalence of serotype A (95%) and children presented a frequency of 52% of the serotype B (p<0.05). We confirmed the identification of C. dubliniensis in one strain isolated from an infant. All serotype B strains were susceptible to fluconazole, itraconazole and amphotericin B. On the other hand, 3% and 6% of serotype A strains were "susceptible dose dependent" to fluconazole and itraconazole, respectively. C. albicans serotype A was predominant in adult candidemia and its distribution was homogenous in children patients. All strains were highly susceptible to antifungals. We report here the first case of C. dubliniensis candidemia in South America.

Aspectos epidemiológicos de las infecciones del torrente sanguíneo por levaduras. Confrontando nuestra realidad con el mundo / Epidemiological aspects of circulatory infections by yeasts. Our situation compared with global conditions

Blood stream infections caused by yeasts have undergone considerable increases since the 1980's, showing a change in dynamics of distribution of the agents beginning in the 1990's. This type of infection is primarily nosocomial, and fundamentally affects immunodeppressed individuals, and those within intensive care units. General and specific epidemiological data are reviewed in this study, including both national and global information related to clinical and diagnostic aspects of yeast fungemias. An updated overview of the topic is presented for professionals and specialists in health fields.

La infección del torrente sanguíneo, causada por levaduras, ha experimentado un aumento considerable desde la década de los 80, mostrando a partir de los 90 un cambio dinámico en la distribución de los agentes. Esta infección es mayoritariamente nosocomial y afecta fundamentalmente a pacientes inmunodeprimidos e internados en unidades críticas. En la presente revisión se muestran antecedentes epidemiológicos generales y específicos, tanto nacionales como extranjeros, relacionados con la clínica y el diagnóstico de fungemia por levaduras, entregando una visión actualizada del tema a los distintos profesionales y especialistas del área de la salud.