Hemifacial spasm as a manifestation of pilocytic astrocytoma in a pediatric patient.

Hemifacial spasm is a disorder of the seventh cranial nerve, which is characterized by irregular, involuntary and recurrent tonic and clonic contractions of the ipsilateral facial expression muscles. This disorder affects mainly adults, and there are few cases reported in childhood. The main etiologies are vascular problems, although tumors are an important cause of hemifacial spasm via a direct or an indirect mass effect.

Appendage expression driven by the Hoxd Global Control Region is an ancient gnathostome feature.

The evolutionary transition of the fins of fish into tetrapod limbs involved genetic changes to developmental systems that resulted in novel skeletal patterns and functions. Approaches to understanding this issue have entailed the search for antecedents of limb structure in fossils, genes, and embryos. Comparative genetic analyses have produced ambiguous results: although studies of posterior Hox genes from homology group 13 (Hoxa-13 and Hoxd-13) reveal similarities in gene expression between the distal segments of fins and limbs, this functional homology has not been supported by genomic comparisons of the activity of their cis-regulatory elements, namely the Hoxd Global Control Region.

[Mental health and addictions in homeless people].

The prevalence of psychiatric disorders and addictions to alcohol, drugs or the improper use of prescription medicines in homeless people raises the question--what is the reality on the ground? What type of care is currently available for these problems of psychological suffering and what reflections and perspectives do they incite?

[Inter-disciplinary collective skills for the benefit of people in extreme precarity].

The specificity of the provision of care to the most deprived people lies in the "caring". It implies global care which brings into play a medical-psychological-social synergy.

Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism.

Genome-wide association studies (GWAS) have consistently implicated noncoding variation within the TCF7L2 locus with type 2 diabetes (T2D) risk. While this locus represents the strongest genetic determinant for T2D risk in humans, it remains unclear how these noncoding variants affect disease etiology. To test the hypothesis that the T2D-associated interval harbors cis-regulatory elements controlling TCF7L2 expression, we conducted in vivo transgenic reporter assays to characterize the TCF7L2 regulatory landscape.

Genome-wide identification of conserved regulatory function in diverged sequences.

Plasticity of gene regulatory encryption can permit DNA sequence divergence without loss of function. Functional information is preserved through conservation of the composition of transcription factor binding sites (TFBS) in a regulatory element. We have developed a method that can accurately identify pairs of functional noncoding orthologs at evolutionarily diverged loci by searching for conserved TFBS arrangements.

[Perception of risk of school adolescents in relation to alcohol consumption and sexual behavior].

Alcohol use has been a major precipitating cause of situations of vulnerability in adolescence. The study aims to analyze the risk perception about the relationship of adolescent alcohol use and sexual behavior. The subjects were ten adolescents between 14 and 19, students from a public school in Fortaleza, Ceará, Brazil.

The emerging genetic landscape underlying cardiac conduction system function.

Proper function of an organized Cardiac Conduction System (CCS) is vital to the survival of metazoans ranging from fly to man. The routine use of non-invasive electrocardiogram measures in the diagnosis and monitoring of cardiovascular health has established a trove of reliable CCS functional data in both normal and diseased cardiac states. Recent combination of echocardiogram (ECG) data with genome-wide association studies has identified genomic regions implicated in ECG variability which impact CCS function.

The ISO 18.104: 2003 as integrative model of nursing terminologies.

This paper presents the ISO 18.104:2003 as an integrative model of nursing terminology. It describes the standard, studies and experiences with its use and discusses possibilities to develop knowledge in the field.

Genome-wide maps of transcription regulatory elements.

Expression of eukaryotic genes with complex spatial-temporal regulation during development requires finer regulation than that of genes with simpler expression patterns. Given the high degree of conservation of the developmental gene set across distantly related phylogenetic taxa, it is argued that evolutionary variation has occurred by tweaking regulation of expression of developmental genes, rather than by changes in genes themselves. Complex regulation is often achieved through the coordinated action of transcription regulatory elements spread across the genome up to tens of kilobases from the promoters of their target genes.

An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer.

Genome-wide association studies (GWAS) routinely identify risk variants in noncoding DNA, as exemplified by reports of multiple single nucleotide polymorphisms (SNPs) associated with prostate cancer in five independent regions in a gene desert on 8q24. Two of these regions also have been associated with breast and colorectal cancer. These findings implicate functional variation within long-range cis-regulatory elements in disease etiology.

[International Classification for Nursing Practice: technological instrument for professional practice].

The use of information technologies are considered as instruments that can do that nursing practice becomes visible in health data, local, national and internationally, in way to influence the elaboration of health and education policies. The development of nursing classification systems is approached, with emphasis in the International Classification for Nursing Practice - ICNP, with technological instrument for professional practice, which has as one of the principal criteria for its construction to be sufficiently wide and sensitive to cultural diversity, so that it serves to the multiples purposes requested by the different countries where it will be used.

Causes of interruption of bevacizumab therapy in age-related macular degeneration.

Purpose: To evaluate the rate and the causes of interruption of bevacizumab intravitreal therapy in patients with exudative age-related macular degeneration (AMD) in a referential eye-care center in Joinville, southern Brazil.

Methods: Retrospective, non-comparative, consecutive case series. Cases included all patients with exudative age-related macular degeneration who were treated with one or more bevacizumab intravitreal injections at Sadalla Amin Ghanem Eye Hospital between January, 2006 and January, 2008.

Genomics and proteomics approaches to the study of cancer-stroma interactions.

Background: The development and progression of cancer depend on its genetic characteristics as well as on the interactions with its microenvironment. Understanding these interactions may contribute to diagnostic and prognostic evaluations and to the development of new cancer therapies. Aiming to investigate potential mechanisms by which the tumor microenvironment might contribute to a cancer phenotype, we evaluated soluble paracrine factors produced by stromal and neoplastic cells which may influence proliferation and gene and protein expression.

Family history of hypertension as an important risk factor for the development of severe preeclampsia.

Objective: To determine the risk of preeclampsia in a population with respect to maternal and sister histories of chronic hypertension, preeclampsia and eclampsia.

Design: A case-control study of severe preeclampsia.

Setting: Maternity hospital in Natal, Brazil.

[Nursing undergraduate students' view on listening to patients during care delivery].

The objective of this study was to investigate the views of nursing undergraduate students regarding listening to patients and the importance of listening to nursing care delivery. This investigation is an exploratory study using qualitative methodology and Complex Thinking by Morin as the theoretical reference. It enrolled 12 final-term undergraduate nursing students at Faculdade de Medicina do ABC, Santo André-SP.

Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers.

Clustering of multiple transcription factor binding sites (TFBSs) for the same transcription factor (TF) is a common feature of cis-regulatory modules in invertebrate animals, but the occurrence of such homotypic clusters of TFBSs (HCTs) in the human genome has remained largely unknown. To explore whether HCTs are also common in human and other vertebrates, we used known binding motifs for vertebrate TFs and a hidden Markov model-based approach to detect HCTs in the human, mouse, chicken, and fugu genomes, and examined their association with cis-regulatory modules. We found that evolutionarily conserved HCTs occupy nearly 2% of the human genome, with experimental evidence for individual TFs supporting their binding to predicted HCTs.

[Analysis of managerial work of the nurse in basic health units].

The purpose was to analyse the managerial work of the nurse, to know nurses' actions, to verify the importance towards the planning and to identify some factors that interfere in the management. A descriptive research was accomplished in 10 basic health units in Fortaleza, CE, Brazil, with 10 nurses. Data collection was carried aout in january 2008, by means of a structured interview.

Multiprofessional committee on auditory health: COMUSA.

Created in 2007, COMUSA is a multiprofessional committee comprising speech therapy, otology, otorhinolaryngology and pediatrics with the aim of debating and countersigning auditory health actions for neonatal, lactating, preschool and school children, adolescents, adults and elderly persons. COMUSA includes representatives of the Brazilian Audiology Academy (Academia Brasileira de Audiologia or ABA), the Brazilian Otorhinolaryngology and Cervicofacial Surgery Association (Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico Facial or ABORL), the Brazilian Phonoaudiology Society (Sociedade Brasileira de Fonoaudiologia or SBFa), the Brazilian Otology Society (Sociedade Brasileira de Otologia or SBO), and the Brazilian Pediatrics Society (Sociedade Brasileira de Pediatria or SBP).

Insights into the organization of dorsal spinal cord pathways from an evolutionarily conserved raldh2 intronic enhancer.

Comparative studies of the tetrapod raldh2 (aldh1a2) gene, which encodes a retinoic acid (RA) synthesis enzyme, have led to the identification of a dorsal spinal cord enhancer. Enhancer activity is directed dorsally to the roof plate and dorsal-most (dI1) interneurons through predicted Tcf- and Cdx-homeodomain binding sites and is repressed ventrally via predicted Tgif homeobox and ventral Lim-homeodomain binding sites. Raldh2 and Math1/Cath1 expression in mouse and chicken highlights a novel, transient, endogenous Raldh2 expression domain in dI1 interneurons, which give rise to ascending circuits and intraspinal commissural interneurons, suggesting roles for RA in the ontogeny of spinocerebellar and intraspinal proprioceptive circuits.

Genome-wide discovery of human heart enhancers.

The various organogenic programs deployed during embryonic development rely on the precise expression of a multitude of genes in time and space. Identifying the cis-regulatory elements responsible for this tightly orchestrated regulation of gene expression is an essential step in understanding the genetic pathways involved in development. We describe a strategy to systematically identify tissue-specific cis-regulatory elements that share combinations of sequence motifs.

[Posterior segment changes in microphthalmic eyes: case report].

Microphthalmos is a developmental ocular disorder defined as a small eyeball. The condition can be associated with abnormalities of anterior and posterior segments. The most common anterior characteristics include corneal opacities, angle-closure and a shallow anterior chamber and cataract.

[Nomenclature of nursing interventions to the medical clinic of a teaching hospital].

Descriptive-exploratory study developed with the aim of building affirmative nursing interventions based on the Bank of Language Special Terms of Nursing, the Nomenclature of Nursing Diagnostics of the Medical Clinic and the ICNP, Seven Axis Model. The affirmative built were subjected to a validation process, considering as validated when reaching a > 0.80 concordance index, by nurses who work in the referred clinic, and who agreed to participate.