Soldering of silicon to Invar for double-crystal monochromators.

At the Brazilian Synchrotron Light Laboratory (LNLS), new double-crystal monochromators are under development for use at the new Brazilian fourth-generation synchrotron, Sirius. The soldering technique used for the double-crystal monochromators ensures the union of monocrystalline silicon with FeNi alloy, Invar36 (64Fe-36Ni) from Grupo Metal and Invar39 (61Fe-39Fe) from Scientific Alloys, through SnSb (92.8Sn-7.

[Pragmatic study on the role of ultrasounds in the management infectious complications of peritoneal catheter].

The role of ultrasound (US) is extremely important in the early detection (diagnosis) of peritoneal catheter tunnel infection (TI) in subjects with catheter exit-site infection (ESI), also for the therapeutic follow up of tunnel infection and in particular to evaluate (assess) the prognosis in cases of deep infection. ESI is the major cause of peritonitis because it is associated to bacterial migration and overgrowth which involve deep cuff and then the tunnel. The use of US is now widely recognized, it allows the identification of persistent foci as hypoechoic pericatheter areas and specially to evaluate response to antibiotic therapy.

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.

Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis.

Quality of life of hemodialysis patients in Central and Southern Italy: cross-sectional comparison between Hemodiafiltration with endogenous reinfusion (HFR) and Bicarbonate Hemodialysis.

Introduction: in hemodialysis (HD) patients, poor health-related quality of life (HR-QoL) is prevalent and associated with adverse outcomes. HR-QoL is strictly linked to nutritional status of HD patients. Hemodiafiltration with endogenous reinfusion (HFR) is an alternative dialysis technique that combines diffusion, convection and absorption.

Genomic copy number alterations in non-syndromic hearing loss.

Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing loss with presumptive autosomal recessive (n = 50) or autosomal dominant (n = 50) patterns of inheritance.

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.

Here we describe a novel missense variant in the KCNQ4 gene and a private duplication at 7q31.1 partially involving two genes (IMMP2L and DOCK4). Both mutations segregated with nonsyndromic hearing loss in a family with three affected individuals.

Effect of hemodiafiltration with endogenous reinfusion on overt idiopathic chronic inflammation in maintenance hemodialysis patients: a multicenter longitudinal study.

Chronic inflammation is widely diffuse in maintenance hemodialysis (MHD) patients and is associated with poor survival. Hemodiafiltration with endogenous reinfusion (HFR) is a dialysis technique, highly biocompatible, able to adsorb proinflammatory cytokines and to decrease amino acids and antioxidants loss. These features could be helpful in MHD patients affected by idiopathic chronic inflammation, but this issue remains to be elucidated.

[Hemodiafiltration with endogenous reinfusion in chronic inflammation: a possible therapeutic alternative?].

The patients under maintenance haemodialysis (HD) continue to have an unacceptably excess of mortality compared to general population, that may be explained by high prevalence of inflammation that significantly influences the survival of these patients. Indeed, chronic inflammation is very common in HD and it may cause malnutrition and progression of atherosclerotic disease by several pathogenetic mechanisms triggered by pro-inflammatory cytokines. Currently no pharmacological intervention is specifically targeted the idiopathic chronic inflammation.

Multilocus family-based association analysis of seven candidate polymorphisms with essential hypertension in an african-derived semi-isolated brazilian population.

Background. It has been widely suggested that analyses considering multilocus effects would be crucial to characterize the relationship between gene variability and essential hypertension (EH). Objective.

Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family.

We ascertained a Brazilian family with nine individuals affected by autosomal dominant nonsyndromic sensorineural hearing loss. The bilateral hearing loss affected mainly mid-high frequencies, was apparently stable with an early onset. Microsatellites close to the DFNA8/DFNA12 locus, which harbors the TECTA gene, showed significant multipoint lod scores (3.

Multilocus analyses of seven candidate genes suggest interacting pathways for obesity-related traits in Brazilian populations.

We investigated whether variants in major candidate genes for food intake and body weight regulation contribute to obesity-related traits under a multilocus perspective. We studied 375 Brazilian subjects from partially isolated African-derived populations (quilombos). Seven variants displaying conflicting results in previous reports and supposedly implicated in the susceptibility of obesity-related phenotypes were investigated: β2-adrenergic receptor (ADRB2) (Arg16Gly), insulin induced gene 2 (INSIG2) (rs7566605), leptin (LEP) (A19G), LEP receptor (LEPR) (Gln223Arg), perilipin (PLIN) (6209T > C), peroxisome proliferator-activated receptor-γ (PPARG) (Pro12Ala), and resistin (RETN) (-420 C > G).

Intradialytic changes of plasma amino acid levels: effect of hemodiafiltration with endogenous reinfusion versus acetate-free biofiltration.

During hemodialysis, amino acids (AA) are lost in the ultrafiltrate with consequent modification of their plasma profile. The aim of this cross-sectional study was to evaluate intradialytic changes of plasma AA levels during a single session of hemodiafiltration with endogenous reinfusion (HFR) versus acetate-free biofiltration (AFB). 48 patients chronically treated with HFR or AFB were matched 1:1 for age, gender, Kt/V and diabetes.

The search of a genetic basis for noise-induced hearing loss (NIHL).

Background And Aim: Knowledge about the genetic factors responsible for noise-induced hearing loss (NIHL) is still limited. This study investigated whether genetic factors are associated or not to susceptibility to NIHL.

Subjects And Methods: The family history and genotypes were studied for candidate genes in 107 individuals with NIHL, 44 with other causes of hearing impairment and 104 controls.

Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.

Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m.1555A>G had been previously excluded from this sample.

Chromosome imbalances in syndromic hearing loss.

The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a normal parent.

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family.

Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.

Development and validation of sensitive methods for determination of sibutramine hydrochloride monohydrate and direct enantiomeric separation on a protein-based chiral stationary phase.

Sibutramine hydrochloride monohydrate, chemically 1-(4-chlorophenyl)-N,N-dimethyl-alpha-(2-methylpropyl) hydrochloride monohydrate (SB.HCI.H20), was approved by the U.

[A comparative analysis of inner wrapping and package inserts for medicines containing Panax ginseng C. A. Meyer].

The information provided on package inserts and inner wrapping of eight products containing Panax ginseng from different manufacturers was compared internally and checked against data from the scientific literature. The inserts included extensive text, containing abundant information on indications for use, but no scientific evidence in humans. All the inserts lacked information on potential adverse effects and drug interaction.

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

Ballana et al. [E. Ballana, E.

Polymorphic Alu insertions in six Brazilian African-derived populations.

At least 25 African-derived populations (quilombo remnants) are believed to exist in the Ribeira River Valley, located in the southern part of São Paulo State, Brazil. We studied four Alu polymorphic loci (APO, ACE, TPA25, and FXIIIB) in individuals belonging to six quilombo remnants in addition to individuals sampled from the city of São Paulo. The allelic frequencies observed in the quilombo remnants were similar to those previously observed in African-derived populations from Central and North America.

Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.

In order to assess the molecular variability related to fragile X (FMR1 locus), we investigated the distribution of CGG repeats and DXS548/FRAXAC1 haplotypes in normal South American populations of different ethnic backgrounds. Special attention was given to Amerindian Wai-Wai (Northern Brazil) and Ache (Paraguay), as well as to Brazilian isolated communities of African ancestry, the remnants of quilombos. Comparison of samples from quilombos, Amerindians, and the ethnically mixed, but mainly European-derived population of São Paulo revealed that the 30-copy allele of the fragile X gene is the most frequent in all groups.

[Nutritional and energy metabolism changes in abdominal irradiation--experimental study].

In this study the effects on nutritional status and energetic metabolism due to abdominal irradiation were analysed. Adult male Wistar rats (48), were divided in two groups Control (C) and Radiated (R). The rats were maintained all time in metabolic cages.

[Energy metabolism and experimental malignant tumor development].

Weight loss in cancer can be attributed to anorexia and/or increased energy expenditure. In order to understand the contribution of these variables, 36 Wistar rats fed regular diet were randomly distributed in 3 groups: T (12) bearing Walker 256 carcinosarcoma; PF (12) pair fed with T group and C (12) as control group; another group--D (12)--in which rats were fed with low protein (1%) diet. Caloric intake, body and tumor weight were measured daily.