The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.

Purpose: To further define the epilepsy phenotype in a cohort of children with 15q13.3 microdeletion syndrome.

Methods: We retrospectively reviewed the phenotypic spectrum of all children aged < 18 years with epilepsy and 15q13.

Genetically engineered rpsL merodiploidy impacts secondary metabolism and antibiotic resistance in Streptomyces.

Certain point mutations within gene for ribosomal protein S12, rpsL, are known to dramatically change physiological traits of bacteria, most prominently antibiotic resistance and production of various metabolites. The rpsL mutants are usually searched among spontaneous mutants resistant to aminoglycoside antibiotics, such as streptomycin or paromomycin. The shortcomings of traditional selection are as follows: random rpsL mutants may carry undesired genome alterations; many rpsL mutations cannot be isolated because they are either not associated with increased antibiotic resistance or non-viable in the absence of intact rpsL gene.

The McMaster Pediatric Migraine Questionnaire: a prospective validation study.

Objective: Migraine affects approximately 4%-11% of elementary school children; yet reaching a diagnosis in this age group can be challenging. The goal of this study was to develop a screening migraine questionnaire that could be easily implemented by a general pediatrician and validate its use in diagnosing migraine in children 5-12 years old.

Methods: A questionnaire, the McMaster Migraine Tool, was developed using the International Classification of Headache Disorders-II criteria for migraine.

[Heart involvement in systemic sclerosis: analysis of four cases].

Introduction: Systemic sclerosis (SSc) is an autoimmune disease characterized by multisystem involvement. Heart involvement occurs in 80-100% of cases and represents one of the more common risk factors of death. Myocardial fibrosis and vascular microangiopathy lead to arrhythmias and impaired contractility with secondary left and right heart failure.

Gastrointestinal involvement in patients with systemic sclerosis.

Introduction: Gastrointestinal (GI) involvement is a serious complication of systemic sclerosis (SSc).

Objectives: The aim of the study was to determine the incidence of GI manifestations in SSc.

Patients And Methods: We studied 73 patients with SSc (60 women and 13 men).