Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS. © 2012 Macmillan Publishers Limited All rights reserved.

Towards a post-traumatic subtype of obsessive-compulsive disorder

We evaluated whether traumatic events are associated with a distinctive pattern of socio-demographic and clinical features of obsessive-compulsive disorder (OCD). We compared socio-demographic and clinical features of 106 patients developing OCD after post-traumatic stress disorder (PTSD; termed post-traumatic OCD), 41 patients developing OCD before PTSD (pre-traumatic OCD), and 810 OCD patients without any history of PTSD (non-traumatic OCD) using multinomial logistic regression analysis. A later age at onset of OCD, self-mutilation disorder, history of suicide plans, panic disorder with agoraphobia, and compulsive buying disorder were independently related to post-traumatic OCD. In contrast, earlier age at OCD onset, alcohol-related disorders, contamination-washing symptoms, and self-mutilation disorder were all independently associated with pre-traumatic OCD. In addition, patients with post-traumatic OCD without a previous history of obsessive-compulsive symptoms (OCS) showed lower educational levels, greater rates of contamination-washing symptoms, and more severe miscellaneous symptoms as compared to post-traumatic OCD patients with a history of OCS. © 2011 Elsevier Ltd.

Cytohistological and immunohistochemical features of a mammary invasive pleomorphic lobular carcinoma in a dog

This case report describes a case of a mammary invasive pleomorphic lobular carcinoma in a female dog. Cytology revealed small cohesive clusters of cells and many scattered single large round cells with eccentric nuclei. Histologically, the neoplasm presented plasmacytoid cells with multiple, often bizarre nuclei and an invasive pattern with cells occasionally arranged in Indian files. Vascular invasion was consistently present. Tumour cells also revealed loss of E-cadherin immunoexpression and positive immunoreactivity for HER2/c-erbB2, oestrogen receptor alpha, cytokeratin 19, and Ki67 (52 %), and the tumour was characterised as a mammary invasive pleomorphic lobular carcinoma. This is an interesting case since this is a rare condition that is not widely recognised in dogs. © 2012 Springer-Verlag London Limited.

Semiautomatic dental recognition using a graph-based segmentation algorithm and teeth shapes features

Dental recognition is very important for forensic human identification, mainly regarding the mass disasters, which have frequently happened due to tsunamis, airplanes crashes, etc. Algorithms for automatic, precise, and robust teeth segmentation from radiograph images are crucial for dental recognition. In this work we propose the use of a graph-based algorithm to extract the teeth contours from panoramic dental radiographs that are used as dental features. In order to assess our proposal, we have carried out experiments using a database of 1126 tooth images, obtained from 40 panoramic dental radiograph images from 20 individuals. The results of the graph-based algorithm was qualitatively assessed by a human expert who reported excellent scores. For dental recognition we propose the use of the teeth shapes as biometric features, by the means of BAS (Bean Angle Statistics) and Shape Context descriptors. The BAS descriptors showed, on the same database, a better performance (EER 14%) than the Shape Context (EER 20%). © 2012 IEEE.

Local and regional features of surface radiation fluxes over the tropical Atlantic ocean near Sao Pedro and Sao Paulo archipelago: Evidence of small scale upwelling

To properly describe the interactions between the ocean and atmosphere, it is necessary to assess a variety of time and spatial scales phenomena. Here, high resolution oceanographic and meteorological data collected during an observational campaign carried out aboard a ship in the tropical Atlantic Ocean, on May 15-24, 2002, is used to describe the radiation balance at the ocean interface. Data collected by two PIRATA buoys, along the equator at 23°W and 35°W and satellite and climate data are compared with the data obtained during the observational campaign. Comparison indicates remarkable similarity for daily and hourly values of radiation fluxes components as consequence of the temporal and spatial consistence presented by the air and water temperatures measured in situ and estimated from large scale information. The discrepancy, mainly in the Sao Pedro and Sao Paulo Archipelago area, seems to be associated to the local upwelling of cold water, which is not detected in all other estimates investigated here. More in situ data are necessary to clarify whether this upwelling flow has a larger scale effect and what are the meteorological and oceanographic implications of the local upwelling area on the tropical waters at the Brazilian coast.

Features and phases of the "Swedish model"

Analiza el sistema sociopolítico de Suecia.

Immunohistochemical features of multifocal melanoacanthoma in the hard palate: A case report

Background: Melanoacanthoma (MA) has been described in the oral mucosa as a solitary lesion or, occasionally, as multiple lesions. MA mainly affects dark skinned patients and grows rapidly, showing a plane or slightly raised appearance and a brown to black color. The differential diagnosis includes oral nevi, amalgam tattoos, and melanomas. We report here the case of a 58-year-old black woman who presented multiple pigmented lesions on the hard palate. Case presentation. Based on the differential diagnosis of melanoma, a punch biopsy (4 mm in diameter) was performed. The material was fixed in 10% formalin, embedded in paraffin, and stained with hematoxylin-eosin or submitted to immunohistochemical analysis. Immunohistochemistry using antibodies against protein S-100, melan-A, HMB-45, MCM-2, MCM-5, Ki-67 and geminin was performed. Immunohistochemical analysis revealed strong cytoplasmic immunoreactivity of dendritic melanocytes for proteinS-100, HMB-45 and melan-A.Positive staining for proliferative markers (MCM-2, MCM-5, Ki-67) was only observed in basal and suprabasal epithelial cells, confirming the reactive etiology of the lesion. The diagnosis was oral Melanoacanthoma (MA). Conclusion: The patient has been followed up for 30 months and shows no clinical alterations. MA should be included in the differential diagnosis of pigmented lesions of the oral cavity. © 2013 das Chagas e Silva de Carvalho et al.; licensee BioMed Central Ltd.

Reservoir design and operation: Effects on aquatic biota-a case study of planktonic copepods

Copepod assemblages from two cascade reservoirs were analyzed during two consecutive years. The upstream reservoir (Chavantes) is a storage system with a high water retention time (WRT of 400 days), and the downstream one (Salto Grande) is a run-of-river system with only 1. 5 days WRT. Copepod composition, richness, abundance, and diversity were correlated with the limnological variables and the hydrological and morphometric features. Standard methods were employed for zooplankton sampling and analysis (vertical 50-μm net hauls and counting under a stereomicroscope). Two hypotheses were postulated and confirmed through the data obtained: (1) compartmentalization is more pronounced in the storage reservoir and determines the differences in the copepod assemblage structure; and (2) the assemblages are more homogeneous in the run-of-river reservoir, where the abundance decreases because of the predominance of washout effects. For both reservoirs, the upstream zone is more distinctive. In addition, in the smaller reservoir the influence of the input from tributaries is stronger (turbid waters). Richness did not differ significantly among seasons, but abundance was higher in the run-of-river reservoir during summer. © 2012 Springer Science+Business Media Dordrecht.

El Salvador: principales rasgos de su evolución económica reciente = El Salvador: main features of its recent economic performance

Incluye Bibliografía

Classification of masses in mammographic image using wavelet domain features and polynomial classifier

Breast cancer is the most common cancer among women. In CAD systems, several studies have investigated the use of wavelet transform as a multiresolution analysis tool for texture analysis and could be interpreted as inputs to a classifier. In classification, polynomial classifier has been used due to the advantages of providing only one model for optimal separation of classes and to consider this as the solution of the problem. In this paper, a system is proposed for texture analysis and classification of lesions in mammographic images. Multiresolution analysis features were extracted from the region of interest of a given image. These features were computed based on three different wavelet functions, Daubechies 8, Symlet 8 and bi-orthogonal 3.7. For classification, we used the polynomial classification algorithm to define the mammogram images as normal or abnormal. We also made a comparison with other artificial intelligence algorithms (Decision Tree, SVM, K-NN). A Receiver Operating Characteristics (ROC) curve is used to evaluate the performance of the proposed system. Our system is evaluated using 360 digitized mammograms from DDSM database and the result shows that the algorithm has an area under the ROC curve Az of 0.98 ± 0.03. The performance of the polynomial classifier has proved to be better in comparison to other classification algorithms. © 2013 Elsevier Ltd. All rights reserved.

The relation between structural features and electrochemical activity of MnO2 nanoparticles synthesized from a polyol-made Mn 3O4 precursor

A simple hybrid synthesis processing method was developed to synthesize γ-MnO2 nanocrystalline particles. The polyol method was modified by the addition of nitric acid in order to allow the synthesizing of single-phase Mn3O4 in a large scale. In the sequence, the acid digestion technique was used to transform Mn3O4 into γ-MnO2. Structural and morphological characterization was carried out by X-ray diffractometry, Infrared and Raman spectroscopy, thermogravimetric analysis, nitrogen adsorption isotherm, scanning electron microscopy, and transmission electron microscopy. The electrochemical properties were investigated by cyclic voltammetry and galvanostatic charge-discharge measurements. The synthesized material exhibits a specific capacitance of 125.1 F g-1 at a mass loading of 0.98 mg cm-2. The relation between structural features and electrochemical activity is discussed by comparing the synthesized material with commercial electrolytic manganese dioxide. © 2013 Springer-Verlag Berlin Heidelberg.

Clinical, cytologic, and histologic features of a mammary micropapillary carcinoma in a dog

Mammary invasive micropapillary carcinoma is a rare variant of mammary carcinoma that was recently recognized in dogs. The cytologic features and biologic behavior of such neoplasms in dogs have not yet been widely discussed in the veterinary literature. We report the clinical, cytologic, and histologic features of a canine micropapillary carcinoma in a 13-year-old female mongrel dog. The mammary region presented with extreme local pain, severe edema and erythema, and multifocal epidermal ulceration, which is typical for an inflammatory mammary carcinoma. Fine-needle aspirates were highly cellular and consisted of individual cells and papillary cell clusters with characteristics of malignant epithelial cells. Histologic examination revealed neoplastic cells arranged in small papillae without fibrovascular cores, sometimes inside clear lymphatic spaces, indicating lymphovascular invasion. Regional lymph node evaluation revealed metastatic cells. Due to deteriorating clinical condition the dog was euthanatized 5 months after mastectomy. At necropsy, metastatic neoplastic mammary cells were found in popliteal and mediastinal lymph nodes, the right femoral biceps muscle, liver, heart, lungs, and urinary bladder. © 2013 American Society for Veterinary Clinical Pathology.

In vivo assessment of intratumoral aspirin injection to treat hepatic tumors

AIM: To study the antineoplastic efficacy of 10% aspirin intralesional injection on VX2 hepatic tumors in a rabbit model. METHODS: Thirty-two male rabbits (age: 6-9 wk; body weight: 1700-2500 g) were inoculated with VX2 hepatic tumor cells (104 cells/rabbit) via supraumbilical median laparotomy. On day 4 post-implantation, when the tumors were about 1 cm in diameter, the rabbits were randomly divided into the following groups (n = 8 each group) to assess early (24 h) and late (7 d) antineoplastic effects of intratumoral injection of 10% bicarbonate aspirin solution (experimental groups) in comparison to intratumoral injection of physiological saline solution (control groups): group 1, 24 h control; group 2, 24 h experimental; group 3, 7 d control; group 4, 7 d experimental. The serum biochemistry profile (measurements of glycemia, alkaline phosphatase, gamma-glutamyl transferase, aspartate aminotransferase, and alanine aminotransferase) and body weight measurements were obtained for all animals at the following time points: D0, before tumor implant; D4, day of treatment; D5, day of sacrifice for groups 1 and 2; D11, day of sacrifice for groups 3 and 4. Gross assessments of the abdominal and thoracic cavities were carried out upon sacrifice. The resected liver tissues, including hepatic tumors, were qualitatively (general morphology, signs of necrosis) and quantitatively (tumor area) assessed by histopathological analysis. RESULTS: Gross examination showed no alterations, besides the left hepatic lobe tumors, had occurred in the thoracic and abdominal cavities of any animal at any time point evaluated. However, the features of the tumor foci were distinctive between the groups. Compared to the control groups, which showed normal unabated tumor progression, the aspirin-treated groups showed imprecise but limited tumor boundaries and a general red-white coloration (indicating hemorrhaging) at 24 h post-treatment, and development of yellow-white areas of a cicatricial aspect at 7 d after treatment. At all time points evaluated, all except one biochemical parameters tested within the reference range (P > 0.05); a significant increase was detected in the alkaline phosphatase level of the control group 3 on D11 (P < 0.05). At 24 h post-treatment, the aspirintreated groups showed extensive coagulation necrosis accompanied by a remarkable absence of viable tumor foci; at 7 d after treatment, the tumors had completely disappeared in these animals and fibrous necrotic nodules had developed. In contrast, throughout the study course, the tumors of the control groups remained unchanged, showing tumor nodules without necrosis at the time point corresponding to 24 h post-treatment and increased amounts of tumor nodules at the time point corresponding to 7 d post-treatment. Quantitative analysis of the remaining tumor area revealed that the aspirin-treated groups had significantly smaller tumor foci at 24 h post-treatment (8.5% ± 0.7%) andat 7 d after treatment (11.0% ± 4.2%), compared to those in the control groups (24 h: 98.5% ± 1.5% and 7 d: 94.0% ± 2.7%; both, P < 0.005). CONCLUSION: Intralesional injection of a 10% aspirin solution causes destruction of VX2 hepatic tumors in rabbits without evidence of relapse at 7 d after treatment administration. © 2013 Baishideng.