Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.

Diagnostic tests are available to detect several mutations related to adult-onset, autosomal dominant, neurodegenerative diseases. We aimed to describe our experience in a presymptomatic testing program run by the Brazilian Public Health System from 1999 to 2009. A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease (11.

Application of suppressive subtractive hybridization to the identification of genetic differences between two Lactococcus garvieae strains showing distinct differences in virulence for rainbow trout and mouse.

Lactococcus garvieae is the causative microbial agent of lactococcosis, an important and damaging fish disease in aquaculture. This bacterium has also been isolated from vegetables, milk, cheese, meat and sausages, from cow and buffalo as a mastitis agent, and even from humans, as an opportunistic infectious agent. In this work pathogenicity experiments were performed in rainbow trout and mouse models with strains isolated from human (L.

Embryonal rhabdomyosarcoma of the uterine cervix in a 47-year-old woman.

Embryonal rhabdomyosarcoma (RMS) of the female genital tract usually occurs in the vagina during childhood. The uterine cervix as a primary site is rare, but is more frequent until the second decade of life. It usually has a good prognosis and the treatment is based on multidrug chemotherapy, radiotherapy and surgery.

Role of Fos-related antigen 1 in the progression and prognosis of ductal breast carcinoma.

Aims: Fos-related antigen 1 (Fra-1) is a member of the activator protein 1 (AP-1) transcription factor family. Our objective was to evaluate the role of Fra-1 expression in breast carcinoma progression and prognosis.

Methods And Results: Fra-1 expression was investigated by immunohistochemistry in two tissue microarrays containing, respectively, 85 ductal carcinoma in situ (DCIS) and 771 invasive ductal carcinoma (IDC) samples.

Dynamics of neuron-glia interplay upon exposure to unconjugated bilirubin.

Microglia are the main players of the brain immune response. They act as active sensors that rapidly respond to injurious insults by shifting into different activated states. Elevated levels of unconjugated bilirubin (UCB) induce cell death, immunostimulation and oxidative stress in both neurons and astrocytes.

Identification of antioxidative flavonols and anthocyanins in Sicana odorifera fruit peel.

Ten flavonols and three anthocyanins were identified in the fruit peel of melón de olor (Sicana odorifera), and their structures were established by spectrometric and spectroscopic (ESI-MS and NMR) techniques. One of the identified flavonols, quercetin 3-O-(6''-O-malonyl)-β-D-glucopyranoside 4'-O-β-D-glucopyranoside, has not been reported before in the plant kingdom. Although quercetin-3-O-α-L-rhamnopyranosyl-(1→6)-β-d-glucopyranoside-4'-O-β-D-glucopyranoside had been reported before in literature and structure elucidation was done by comparison of NMR data with published data, to the best of our knowledge complete 1D and 2D NMR data have not been not delineated so far.

Simultaneous detection of changes in protein expression and oxidative modification as a function of age and APOE genotype.

To better elucidate temporal changes in protein oxidation resulting from aging and the Alzheimer's disease-associated Apolipoprotein E (ApoE), we developed a 2D-DIGE-based method for simultaneously detecting differential expression and carbonyl oxidation of proteins. Specifically, we examined changes in the levels of oxidation and total protein expression in hippocampi from young-adult (25-30 weeks) and old (76-97 weeks) mice transgenic for the human Apolipoprotein E gene (APOE, APOE3, APOE4) isoforms, APOE3 or APOE4. Protein samples were labeled with either a fluorescent aminooxyacetamide (Alexa Fluor 488) to detect carbonyl modifications or with NHS-Cy3 to detect total protein expression.

Comparison of two protective lung ventilatory regimes on oxygenation during one-lung ventilation: a randomized controlled trial.

Background: The efficacy of protective ventilation in acute lung injury has validated its use in the operating room for patients undergoing thoracic surgery with one-lung ventilation (OLV). The purpose of this study was to investigate the effects of two different modes of ventilation using low tidal volumes: pressure controlled ventilation (PCV) vs. volume controlled ventilation (VCV) on oxygenation and airway pressures during OLV.

[The history of microbiology in Chile: about the origin of experimental bacteriology].

The origin of bacteriology in Chile is intimately bound to the life of the physicians Vicente Izquierdo Sanfuentes and Francisco Puelma Tupper. Both were awarded in 1874 with a government fellowship to study in the most prestigious universities of Europe. Dr.

Participation of valine 171 in alpha-Helix 5 of Bacillus thuringiensis Cry1Ab delta-endotoxin in translocation of toxin into Lymantria dispar midgut membranes.

The Cry1Ab δ-endotoxin V171C mutant protein exhibits a 25-fold increase in toxicity against Lymantria dispar, which correlates with a faster rate of partitioning into the midgut membrane and slightly decreased protein stability. This is an insect-specific mechanism; similar results were not observed in Manduca sexta, another Cry1Ab δ-endotoxin-susceptible insect.

Routine postoperative administration of vitamin D and calcium after total thyroidectomy: a meta-analysis.

Background: Temporary hypocalcemia is a frequent complication after total thyroidectomy. Routine postoperative administration of vitamin D and calcium can reduce the incidence of symptomatic postoperative hypocalcemia. We undertook a systematic review to assess the effectiveness of this intervention.

Monocyte chemotactic protein-3: possible involvement in apical periodontitis chemotaxis.

Aim: To study the expression of monocyte chemotactic protein-3 (MCP-3, also known as chemokine CCL-7) in tissue from apical lesions (AL) and to associate MCP-3 expression with symptomatic or asymptomatic apical periodontitis.

Methodology: To determine the expression of MCP-3 in AL, biopsies obtained during tooth extraction procedures were fixed, subjected to routine processing and diagnosed as apical granuloma (AG) (n = 7) or radicular cyst (RC) (n = 5). As controls, apical periodontal ligament (PDL) specimens from healthy premolars extracted for orthodontics reasons were included (n = 7).

Evaluation of four polymerase chain reaction primer pairs for the detection of Edwardsiella tarda in turbot.

Edwardsiella tarda is an important emergent pathogen in European aquaculture, causing several mortality events in turbot Scophthalmus maximus cultures in recent years. Here, we evaluated in parallel the specificity of 4 previously published pairs of primers, gyrBF1/gyrBR1, tardaF/ tardaR, etfA and etfD, for the detection of 53 E. tarda strains isolated from different sources, as well as 18 representatives of related and unrelated bacterial species.

Early laparoscopy for the evaluation of nonspecific abdominal pain: a critical appraisal of the evidence.

Background: Patients with nonspecific abdominal pain (NSAP) are frequently seen in emergency departments. Different studies have suggested that early laparoscopy (EL) could be an adequate tool to accelerate diagnosis and therapy. The aim of this study was to assess the effectiveness of EL in terms of diagnosis, persistence of NSAP, mortality, morbidity, cost, hospital stay, and quality of life relative to observation in NSAP.

The ABC-transporter hutCD genes of Photobacterium damselae subsp. piscicida are essential for haem utilization as iron source and are expressed during infection in fish.

The marine fish pathogen Photobacterium damselae subsp. piscicida utilizes haem compounds as the sole iron source. In a previous work, we characterized a gene cluster with ten potential haem uptake and utilization genes.

Sentinel node biopsy in breast cancer: results in a large series.

Sentinel lymph node biopsy (SLNB) is an appropriate method for the evaluation of axillary status in cases of early breast cancer. We report our experience in treating cases evaluated using SLNB. We analyzed a total of 1192 cases assessed by means of SLNB from July 1999 to December 2007.

Microencapsulation by spray-drying of anthocyanin pigments from Corozo ( Bactris guineensis) fruit.

The anthocyanins of Bactris guineensis fruit were isolated with the aid of high-speed countercurrent chromatography (HSCCC) and preparative HPLC, and their chemical structures were elucidated by using spectroscopic methods. Among the identified pigments, cyanidin-3-rutinoside and cyanidin-3-glucoside were characterized as major constituents (87.9%).

TNF-alpha regulates the effects of irradiation in the mouse bone marrow microenvironment.

Background: Secondary bone marrow (BM) myelodysplastic syndromes (MDS) are increasingly common, as a result of radio or chemotherapy administered to a majority of cancer patients. Patients with secondary MDS have increased BM cell apoptosis, which results in BM dysfunction (cytopenias), and an increased risk of developing fatal acute leukemias. In the present study we asked whether TNF-alpha, known to regulate cell apoptosis, could modulate the onset of secondary MDS.

Chemical analysis and screening as anticancer agent of anthocyanin-rich extract from Uva Caimarona ( Pourouma cecropiifolia Mart.) fruit.

The anthocyanin-rich extract (ARE) of the fruit from Pourouma cecropiifolia , a tropical plant native to the Amazon region, showed moderate cytotoxicity toward different cancer cell lines when evaluated by MTT assays. This extract was fractionated using Sephadex LH-20 chromatography to obtain three fractions (F1-F3), the composition of which was analyzed by HPLC-PDA and LC-ESI/MS. F1 was composed primarily of the monomeric anthocyanins delphinidin-3-O-beta-glucopyranoside, cyanidin-3-O-beta-glucopyranoside, and cyanidin-3-O-(6''-malonyl)glucopyranoside.

Anguibactin- versus vanchrobactin-mediated iron uptake in Vibrio anguillarum: evolution and ecology of a fish pathogen.

Vibrio anguillarum is a marine bacterium that is present in many marine aquatic environments and that is the main cause of vibriosis in diverse wild and cultured fish species. Two siderophore-mediated iron uptake systems have been described in V. anguillarum.

Concomitant expression of epithelial-mesenchymal transition biomarkers in breast ductal carcinoma: association with progression.

Epithelial to mesenchymal transition (EMT) is a process implicated in cancer progression in which the underlying cellular changes have been identified mainly using in vitro models. We determined the expression of some putative EMT biomarkers including E-cadherin, beta-catenin, zinc finger factor Snail (Snail), transforming growth factor beta1 (TGFbeta1), TGFbeta type II receptor (TBRII) and the HGF receptor (c-met) and their possible correlation to progression and overall survival in a series of breast ductal carcinoma in situ (DCIS) and invasive ductal carcinomas (IDC). Biomarkers were immunohistochemically determined in 55 IDC specimens from which 21 had lymph node metastases and in 95 DCIS specimens, 46 of these cases associated to invasive carcinoma, in a tissue microarray (TMA).

Expression of E-cadherin, Snail and Hakai in epithelial cells isolated from the primary tumor and from peritumoral tissue of invasive ductal breast carcinomas.

Epithelial intercellular cohesion, mainly mediated by E-cadherin (CDH1) expression and function, may be deregulated during cancer cell invasion of adjacent tissues and lymphatic and vascular channels. CDH1 expression is down-modulated in invasive lobular breast carcinomas but its regulation in invasive ductal carcinomas (IDC) is less clear. CDH1 expression is repressed by transcription factors such as Snail (SNAI1) and its product is degraded after Hakai ubiquitination.

Ser170 of Bacillus thuringiensis Cry1Ab delta-endotoxin becomes anchored in a hydrophobic moiety upon insertion of this protein into Manduca sexta brush border membranes.

Background: Three spin-labeled mutant proteins, mutated at the beginning, middle, and end of alpha-helix 5 of the Bacillus thuringiensis Cry1Ab delta-endotoxin, were used to study the involvement of these specific amino acid residues in ion transport and to determine conformational changes in the vicinity of these residues when the protein was translocated into a biological membrane.

Results: Amino acid residue leucine 157, located in the N-terminal portion of alpha-helix 5, showed no involvement in ion transport, and the environment that surrounds the residue did not show any change when transferred into the biological membrane. Serine 170, located in the middle of the alpha-helix, showed no involvement in ion transport, but our findings indicate that in the membrane-bound state this residue faces an environment that makes the spin less mobile, as opposed to the mobility observed in an aqueous environment.

[Pathogenicity island region of clinical and environmental strains of Vibrio parahaemolyticus, isolated in Chile].

Background: Most clinical isolates of Vibrio parahaemolyticus produce a major virulence factor known as the thermostable direct hemolysin (TDH). TDH is encoded by the tdh gene which is located in a genomic pathogenicity island (PAI). Most environmental isolates are described as tdh negative.