BPG: Seamless, automated and interactive visualization of scientific data.

Background: We introduce BPG, a framework for generating publication-quality, highly-customizable plots in the R statistical environment.

Results: This open-source package includes multiple methods of displaying high-dimensional datasets and facilitates generation of complex multi-panel figures, making it suitable for complex datasets. A web-based interactive tool allows online figure customization, from which R code can be downloaded for integration with computational pipelines.

Enhancing knowledge discovery from cancer genomics data with Galaxy.

The field of cancer genomics has demonstrated the power of massively parallel sequencing techniques to inform on the genes and specific alterations that drive tumor onset and progression. Although large comprehensive sequence data sets continue to be made increasingly available, data analysis remains an ongoing challenge, particularly for laboratories lacking dedicated resources and bioinformatics expertise. To address this, we have produced a collection of Galaxy tools that represent many popular algorithms for detecting somatic genetic alterations from cancer genome and exome data.

Limb-girdle muscular dystrophy type 2A in Brazilian children.

Unlabelled: Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.

Objective: To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them.

Method: We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene.

Clinical aspects of patients with sarcoglycanopathies under steroids therapy.

Unlabelled: Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available.

Objective: To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year.

Method: Patient files were retrospectively analyzed for steroid use.

SeqControl: process control for DNA sequencing.

As high-throughput sequencing continues to increase in speed and throughput, routine clinical and industrial application draws closer. These 'production' settings will require enhanced quality monitoring and quality control to optimize output and reduce costs. We developed SeqControl, a framework for predicting sequencing quality and coverage using a set of 15 metrics describing overall coverage, coverage distribution, basewise coverage and basewise quality.

Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

Background: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype.

Methods: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene.

Assessment of the stress level of anesthesiologists of the Sergipe anesthesiologists cooperative.

Background And Objectives: To assess the impact caused by stress on occupational health of anesthesiologists in Sergipe and to propose solutions to improve work conditions, quality of the service provided, and quality of life.

Methods: WHOQOL-BREF questionnaire was applied; the sample size was determined by the Barbetta method; and Student t test and Analysis of Variance were used for intergroup comparisons, considering significant a p < 5%.

Results: This study demonstrated that the mean weekly working hours is 61.

Comparison between multislice and cone-beam computerized tomography in the volumetric assessment of cleft palate.

The aim of this study was to determine the applicability of multislice and cone-beam computerized tomography (CT) in the assessment of bone defects in patients with oral clefts. Bone defects were produced in 9 dry skulls to mimic oral clefts. All defects were modeled with wax.

Evaluation of simulated bone lesion in the head of the mandible by using multislice computed tomography.

Unlabelled: Conventional radiography has shown limitation in acquiring image of the ATM region, thus, computed tomography (CT) scanning has been the best option to the present date for diagnosis, surgical planning and treatment of bone lesions, owing to its specific properties.

Objective: The aim of the study was to evaluate images of simulated bone lesions at the head of the mandible by multislice CT.

Material And Methods: Spherical lesions were made with dental spherical drills (sizes 1, 3, and 6) and were evaluated by using multislice CT (64 rows), by two observers in two different occasions, deploying two protocols: axial, coronal, and sagittal images, and parasagittal images for pole visualization (anterior, lateral, posterior, medial and superior).

CT assessment of the correlation between clinical examination and bone involvement in oral malignant tumors.

Oral cancers have a tendency to invade the surrounding bone structures, and this has a direct influence on the treatment management and on outcomes. The objective of this study was to correlate the clinical parameters (location, clinical presentation and TNM staging) of oral malignant tumors that can be associated with a potential of bone invasion and determine the accuracy of clinical examination to predict bone involvement, using computed tomography (CT). Twenty five patients, with oral malignant tumors were submitted to clinical and CT examinations.

Nasopharyngeal angiofibroma. surgical approach using a transoral Le Fort I osteotomy following embolization: a case report.

Nasopharyngeal angiofibroma (NA) is a rare vascular benign nonencapsulated neoplasm, characterized by local aggressiveness and destructive potential, typically diagnosed in adolescent males. We report a case of NA affecting a 15-year-old male that presented with a persistent nasal obstruction and epistaxis with 1 year of evolution. Clinical and radiological patterns pointed out a differential diagnosis of NA.

Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases.

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.

Osteomyelitis of the mandible associated with autosomal dominant osteopetrosis: a case report.

Osteopetrosis is a rare hereditary bone disorder presenting with variable clinical features and is characterized by an increase in bone density. The main clinical findings of the benign-type of osteopetrosis (autosomal dominant) are fractures and osteomyelitis of the mandible, leading to the detection of the disease. We report a case of autosomal dominant osteopetrosis with secondary mandibular osteomyelitis.

Adult T-cell leukemia/lymphoma with predominant bone involvement, initially diagnosed by its oral manifestation: a case report.

Adult T-cell leukemia/lymphoma (ATL/L) is a rare malignant neoplasm linked to human T-cell lymphotropic virus type 1 (HTLV-1). This virus has been identified in Japan, the Caribbean, and, more recently, Brazil. We report a case of ATL/L (lymphoma-type) affecting a 30-year-old Brazilian woman.

Computed tomography assessment of Apert syndrome.

Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric syndactyly of the hands and feet. The aim of this study is to assess the clinical and computed tomography imaging patterns of non-operated patients with Apert syndrome, correlating the bone abnormalities of the cranium, face and the skull base. The study population consisted of 5 patients with Apert syndrome.