Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial features, skin and hair abnormalities, and congenital heart defects caused by activating mutations of BRAF, MEK1, MEK2, and KRAS. We define the phenotype of seven patients with de novo deletions of chromosome 19p13.

Development of a phantom for dose distribution verification in Stereotactic Radiosurgery.

A geometric acrylic phantom was designed and built for dose distribution verification in Stereotactic Radiosurgery. Acrylic objects representing the tumor tissue, (target volume (TV)), and the organ at risk (OAR), the brainstem, were inserted inside this phantom. The TV is represented by two semi-spheres of acrylic with a diameter of 13.

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. We report a 24-year-old male with short stature (<5th percentile) and a movement disorder clinically consistent with M-D.

Cytopathologic features of mammary analogue secretory carcinoma.

Background: Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland neoplasm that is defined by ETV6-NTRK3 gene fusion. To the best of the authors' knowledge, only rare case reports of the cytopathologic features of MASC have been published to date.

Methods: A wide variety of archival salivary gland tumors were tested for ETV6 translocation by break-apart fluorescent in situ hybridization.

New experimental model for training in videosurgery.

Purpose: To develop a new experimental model of lower cost for training in videosurgery.

Methods: This project was performed at the Nucleus of Experimental Surgery of the Bahiana School of Medicine and Public Health, based on previous models described in the literature and under the supervision of the full professor of Operative Technique and Experimental Surgery II. It was made a model cube-shaped, made of wood, with holes distributed in various locations, rubber stoppers for the holes and lined externally with carpet, and internally with laminate.

Association of the C242T polymorphism in the NADPH oxidase p22 phox gene with carotid atherosclerosis in Slovenian patients with type 2 diabetes.

Oxidative stress plays an important role in the pathogenesis of diabetes and its complications. Genetic variations of enzymes producing reactive oxygen species could change their activity, thus contributing to the susceptibility to oxidative stress. The aim of this study was to examine the role of the NADPH oxidase C242T polymorphism in the development of carotid atherosclerosis in patients with type 2 diabetes.

Impacts of warming on aquatic decomposers along a gradient of cadmium stress.

We evaluated the effects of cadmium and temperature on plant-litter decomposition by examining diversity and activity of aquatic fungi and leaf consumption by Limnephilus sp., a typical invertebrate shredder of Iberian streams. Freshly fallen leaves were immersed in a stream to allow microbial colonization, and were exposed in microcosms to a gradient of cadmium (≤11 levels, ≤35 mg L(-1)).

Host-jump drives rapid and recent ecological speciation of the emergent fungal pathogen Colletotrichum kahawae.

Ecological speciation through host-shift has been proposed as a major route for the appearance of novel fungal pathogens. The growing awareness of their negative impact on global economies and public health created an enormous interest in identifying the factors that are most likely to promote their emergence in nature. In this work, a combination of pathological, molecular and geographical data was used to investigate the recent emergence of the fungus Colletotrichum kahawae.

Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited.

Purpose: Interstitial deletions of chromosome 5q are common in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), pointing toward the pathogenic role of this region in disease phenotype and clonal evolution. The higher level of resolution of single-nucleotide polymorphism array (SNP-A) karyotyping may be used to find cryptic abnormalities and to precisely define the topographic features of the genomic lesions, allowing for more accurate clinical correlations.

Patients And Methods: We analyzed high-density SNP-A karyotyping at diagnosis for a cohort of 1,155 clinically well-annotated patients with malignant myeloid disorders.

1D and 3D anthropometric data application on public transport vehicle layout and on oil and gas laboratories work environment design.

The goal of this paper is to present 1D and 3D anthropometric data applied to two distinct design situations: one related to the interior layout of a public transport vehicle and another one related to oil and gas laboratories work environment design. On this study, the 1D anthropometric data were extracted from the Brazilian anthropometric database developed by INT and the 3D anthropometric data were obtained using a Cyberware 3D whole body scanner. A second purpose of this paper is to present the 3D human scanning data as a tool that can help designers on decision making.

Human activity reference database.

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In vitro and in vivo investigation of the efficacy of arylimidamide DB1831 and its mesylated salt form--DB1965--against Trypanosoma cruzi infection.

Chagas disease is caused by infection with the intracellular protozoan parasite Trypanosoma cruzi. At present, nifurtimox and benznidazole, both compounds developed empirically over four decades ago, represent the chemotherapeutic arsenal for treating this highly neglected disease. However, both drugs present variable efficacy depending on the geographical area and the occurrence of natural resistance, and are poorly effective against the later chronic stage.

Efficient blockade of Akt signaling is a determinant factor to overcome resistance to matuzumab.

Background: Clinical studies have shown antineoplastic effectiveness of monoclonal antibodies (MAbs) against EGFR for different indications. Several MAbs directed to EGFR were developed recently, such as matuzumab, but there is still lack of information on preclinical data on its combination with chemo-radiation. Thus, the present study intended to examine the molecular pathways triggered by matuzumab alone or associated to chemo-radiotherapy in gynecological cell lines and its impact on cell growth and signaling.

Experimental Chemotherapy for Chagas Disease: A Morphological, Biochemical, and Proteomic Overview of Potential Trypanosoma cruzi Targets of Amidines Derivatives and Naphthoquinones.

Chagas disease (CD), caused by Trypanosoma cruzi, affects approximately eight million individuals in Latin America and is emerging in nonendemic areas due to the globalisation of immigration and nonvectorial transmission routes. Although CD represents an important public health problem, resulting in high morbidity and considerable mortality rates, few investments have been allocated towards developing novel anti-T. cruzi agents.

Application of the Apn2/MAT locus to improve the systematics of the Colletotrichum gloeosporioides complex: an example from coffee (Coffea spp.) hosts.

To improve phylogenetic resolution of the Colletotrichum gloeosporioides species complex we developed and tested the performance of a new set of primers for the Apn2/MAT locus with a case study of 22 isolates. These were isolated mainly from coffee plants and represent six divergent and well characterized species within the C. gloeosporioides complex.

Leptospirosis-associated acute kidney injury: penicillin at the late stage is still controversial.

What Is Known And Objective: Some antimicrobial agents are active in vitro against Leptospiras. The use of penicillins at the late stage of leptospirosis is still controversial. We aimed to evaluate the use of penicillin in patients with leptospirosis-associated acute kidney injury (AKI).

Application of digital image processing for the generation of voxels phantoms for Monte Carlo simulation.

This paper presents the application of a computational methodology for optimizing the conversion of medical tomographic images in voxel anthropomorphic models for simulation of radiation transport using the MCNP code. A computational system was developed for digital image processing that compresses the information from the DICOM medical image before it is converted to the Scan2MCNP software input file for optimization of the image data. In order to validate the computational methodology, a radiosurgery treatment simulation was performed using the Alderson Rando phantom and the acquisition of DICOM images was performed.

Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.

Context: Multiple endocrine neoplasia type 1 (MEN1) is caused by mutations in the menin (MEN1) gene. The mechanism(s) by which MEN1 mutations lead to pituitary tumor formation remain(s) unknown.

Objective: The aim of the study was to identify the pediatric MEN1-associated pituitary tumor transcriptome.

Benthic foraminifera distribution in a tourist lagoon in Rio de Janeiro, Brazil: a response to anthropogenic impacts.

Rodrigo de Freitas Lagoon, located in the Rio de Janeiro City, receives several types of polluted discharges. The knowledge of the sediment microfauna correlated with heavy metal and organic matter concentrations could supply important data about the conditions of the lagoon. The benthic foraminiferal assemblage presented larger diversity and more abundant samples in the lagoon entrance than in the inner area.

Parathyroid hormone and phosphorus overload in uremia: impact on cardiovascular system.

Background: Cardiac remodeling in uremia is characterized by left ventricular hypertrophy, interstitial fibrosis and microvascular disease. Cardiovascular disease is the leading cause of death in uremic patients, but coronary events alone are not the prevalent cause, sudden death and heart failure are. We studied the cardiac remodeling in experimental uremia, evaluating the isolated effect of parathyroid hormone (PTH) and phosphorus.

Influence of the halothane gene (HAL) on pork quality in two commercial crossbreeds.

We evaluated the effect of the halothane (HAL) gene on the quality of pork in domestic pigs. Half-carcasses from two different commercial pig (Sus domestica) crossbreeds were analyzed, 46 of which were homozygous dominant (HAL(NN)) and 69 of which were heterozygous (HAL(Nn)) for the halothane gene. The measures included backfat thickness, lean meat percentage, carcass weight, pH 24 h after slaughtering, color, and drip loss; DNA was extracted from the haunch muscle.

Combined treatment of heterocyclic analogues and benznidazole upon Trypanosoma cruzi in vivo.

Chagas disease caused by Trypanosoma cruzi is an important cause of mortality and morbidity in Latin America but no vaccines or safe chemotherapeutic agents are available. Combined therapy is envisioned as an ideal approach since it may enhance efficacy by acting upon different cellular targets, may reduce toxicity and minimize the risk of drug resistance. Therefore, we investigated the activity of benznidazole (Bz) in combination with the diamidine prodrug DB289 and in combination with the arylimidamide DB766 upon T.

Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysis.

Deletion or loss of heterozygosity (LOH) in chromosomes 1p and 19q in oligodendrogliomas (ODGs) have diagnostic, prognostic, and therapeutic implications. Current clinical assays are limited because the probes or primers interrogate only limited genomic segments. We investigated the use of single nucleotide polymorphism (SNP) arrays for identifying genomic changes in gliomas from FFPE tissues.

An analysis of the regulatory program of quality audits in radiotherapy in Brazil from 1995 to 2007.

The Brazilian Institute of Radiation Protection and Dosimetry (IRD/CNEN) carried out quality assurance regulatory audits in Brazilian radiotherapy facilities from 1995 to 2007. In this work, the set of data collected from 195 radiotherapy facilities that use high-energy photon beams are analyzed. They include results from audits in linear electron accelerators and/or Co-60 units.

Refractory pemphigus vulgaris associated with herpes infection: case report and review.

Background: Pemphigus vulgaris (PV) is an autoimmune disease characterized by blistering of the skin and mucosa, which develops due to the interaction between predisposing genetic and environmental factors. Infections caused by members of the Herpesviridae family have been suggested as a possible triggering factor for PV.

Objective And Methods: In this report, we investigate the presence of herpesviruses in refractory lesions on the right upper eyelid.