Results: 433

Clinical and genetic basis of congenital myasthenic syndromes

Arq. neuropsiquiatr; 74 (9), 2016
ABSTRACT Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasth...

Síndrome de Langer-Giedion con deleción 8q23. 1-q24. 12, diagnosticado por hibridación genómica comparativa

Arch. argent. pediatr; 114 (4), 2016
El síndrome de Langer-Giedion, también conocido como síndrome tricorrinofalángico tipo II, es una enfermedad hereditaria multisistémica que pertenece al grupo de síndromes por deleción de genes contiguos. La causa de este síndrome es una deleción heterocigota que compromete, por lo general, la r...

First report of TEM-104-, SHV-99-, SHV-108-, and SHV-110-producing Klebsiella pneumoniae from Iran

Abstract: INTRODUCTION: Extended-spectrum beta-lactamases (ESBLs) are bacterial enzymes capable of hydrolyzing beta-lactams. The aim of this study was to describe the prevalence of TEM- and SHV-type ESBL-producing Klebsiella pneumoniae strains in Zahedan, Southeast Iran. METHODS: A total of 170 non-rep...

The role of the genetic elements bla oxa and IS Aba 1 in the Acinetobacter calcoaceticus-Acinetobacter baumannii complex in carbapenem resistance in the hospital setting

Abstract: INTRODUCTION: Members of the Acinetobacter genus are key pathogens that cause healthcare-associated infections, and they tend to spread and develop new antibiotic resistance mechanisms. Oxacillinases are primarily responsible for resistance to carbapenem antibiotics. Higher rates of carbapene...

Parâmetros e ganhos genéticos em características de crescimento de bovinos Tabapuã da Bahia

Compararam-se dois modelos (com ou sem o efeito materno) na estimativa de parâmetros genéticos por meio do fator de Bayes (FB) e do critério de informação da deviance (DIC). Adicionalmente, avaliaram-se as tendências genéticas, maternas e fenotípicas em características de crescimento de bovinos ...

Two novel heterozygous missense variations within the GLI2 gene in two unrelated argentine patients
Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients

Medicina (B.Aires); 76 (4), 2016
Several heterozygous GLI2 gene mutations have been reported in patients with isolated GH deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD) with or without other malformations. The primary aim of this study was to analyze the presence of GLI2 gene alterations in a cohort of patients with I...

Effect of Brachionus rubens on the growth characteristics of various species of microalgae

Electron. j. biotechnol; 19 (4), 2016
Background: Cultivation of algae for conversion to biofuels has gained global interest. Outdoor raceway cultivation is preferred because of its lower capital and operating costs. A major disadvantage of outdoor cultivation is susceptibility of algal crops to attack by predatory rotifers. In order to quan...

Parâmetros genéticos e efeitos de sexo e cruzamento recíproco sobre características de interesse econômico em aves F2

Este estudo teve por objetivo estimar os parâmetros genéticos de características de interesse econômico, mensuradas em populações F2 desenvolvidas pela Embrapa Suínos e Aves utilizando cruzamento recíproco entre linhagens de corte e de postura. Ainda, foram avaliados os efeitos de sexo e de cruza...

Phenotypic and molecular characterization of resistance to macrolides, lincosamides and type B streptogramin of clinical isolates of Staphylococcus spp. of a university hospital in Recife, Pernambuco, Brazil

Braz. j. infect. dis; 20 (3), 2016
Abstract Introduction There is a mechanism of macrolide resistance in Staphylococcus spp. which also affects the lincosamides and type B streptogramins characterizing the so-called MLSB resistance, whose expression can be constitutive (cMLSB) or inducible (iMLSB) and is encoded mainly by ermA and ermC g...

Validación de un ensayo automatizado para determinar la actividad de cofactor de ristocetina del factor von Willebrand

La enfermedad de von Willebrand (EvW) se debe a un defecto, cuali o cuantitativo de la molécula del factor von Willebrand (VWF). Bajos niveles de VWF:Ag sugieren la EvW pero no distinguen los subtipos, por lo cual es necesario determinar también la funcionalidad del VWF para completar el diagnóstico. ...