Caracterização estrutural do fator de crescimento de fibroblasto-10 (FGF-10) e seu papel na fisiologia folicular ovariana

Background: Interest in folliculogenesis has grown extensively in recent years. Nevertheless, several aspects of follicular activity are still poorly understood. Thus, in vitro culture of ovarian follicles using new substances has been established as a very viable model, enhancing the prospects for a better understanding of follicular activity. Among the family members of the fibroblast growth factor (FGFs), FGF-10 has received recent attention for its ability to regulate the development of ovarian follicles and oocyte maturation. Given the relevance of FGF-10 in the folliculogenesis process, this review aimed to describe the structural features, expression and the main biological effects of FGF-10 on the development of ovarian follicles in mammals.Review: Along this work, it was shown aspects related to structural characterization of FGF-10 and its receptors, as well as FGF-10 expression in different cell types, emphasizing its importance to follicular development. FGF-10 is a paracrine member of the family of FGFs, and is characterized by promoting biological responses via cell surface receptors (FGFRs) of tyrosine kinase-type. of these receptors, FGFR-1, FGFR-2 and FGFR-3 may undergo alternative transcriptional arrangements, enabling the formation of two isoforms (b and c) that have varying degrees of affinity for the various FGFs. Thus, seven FGFR proteins (FGFRs 1b, 1c, 2b, 2c, 3b, 3c and 4) with different binding specificities are generated from the four FGFR genes. The FGFRs transmit intracellular signals after binding with the ligand through the phosphorylation of tyrosine, which activates various transduction patterns in the cytoplasm. The signal transduction of FGF-10 may occur through three main pathways: protein of rat sarcoma (Ras)/MAPK, PLC gamma/Ca(2+) and phosphatidylinositol-3 kinase (PI3K)/protein kinase B (Akt), which are involved in the transmission of biological signals, leading to cellular proliferation and differentiation. FGF-10 mRNA expression was detected in the ovarian stroma, oocyte and theca cells of preantral and antral follicles. on the other hand, the expression of mRNA for FGF-10 receptors was found in, granulosa cells, theca cells, cumulus cells and oocytes. Although FGFs are widely distributed in different tissues and cell types, the importance and function of FGFs in the ovary are still poorly documented. FGF-10 has been shown to be an important mediator of mesenchymal and epithelial cell interactions during follicle development, promoting follicular survival, activation and growth. Besides the action on folliculogenesis, FGF-10 was recently identified as a growth factor able to improve oocyte competence. However, in antral follicles, the presence of FGF-10 is associated with increased follicular atresia, which matches its anti-estrogenic action.Discussion: From this review, we can conclude that FGF-10 is an important regulator of female reproduction. This growth factor acts in follicle survival, oocyte maturation, expansion of cumulus cells and proliferation of granulosa/theca cellsthrough direct and/or indirect actions in the control of folliculogenesis. Furthermore, FGF-10 seemed to have different effects throughout the follicular development. However, it is necessary to perform additional studies that may provide a better understanding about the importance of FGF-10 during folicullogenesis.

Diagnóstico de hemoglobinopatias em recém-nascidos do Hospital de Base de São José do Rio Preto-SP

The neonatal period is considered the most effective for the screening of hemoglobinopathies. This allows prophylaxis and prevention, improving the patient's survival and guidance of parents and heterozygote carriers. The present work aims at the early detection of abnormal hemoglobins, the establishment of standard analysis and to examine the viability of the prevention program. Blood samples were collected by heel stick and from blood cord of children born in the Hospital de Base São José do Rio Preto, from April 1998 to November 1999. Electrophoresis and cytological, biochemical, cromatographic analyses were made for abnormal hemoglobin characterization. A total of 1,478 neonatal blood samples were analyzed in which 14.62% presented with hemoglobins alterations: 3.32% had Hb S; 0.61% had Hb C; 7.44% were suggestive of alpha thalassemia; 1.55% were suggestive of beta thalassemia, and 1.70% had alpha/beta thalassemia interactions. The samples collected from the blood cord showed better results in all analyses while the blood samples collected by heel stick on filter paper, were applicable to only specific methodologies. The routine laboratory methods allowed identification of the thalassemic and variant forms, and isoelectric focusing presented sensitivity only for variant identification in this age range. The suspected cases were reassessed after six months, which permitted genetic counseling of their family members and clinic attendance. A multidisciplinary approach in programs of this kind is fundamental for its success.

Rastreamento familiar do fator V de Leiden: a importância da detecção de portadores heterozigotos

O fator de Leiden é uma mutação genética que predispõe seus portadores ao tromboembolismo venoso. O objetivo do estudo foi investigar a distribuição dos alelos em 21 membros da família de três pacientes portadores de trombose com a presença da mutação do fator V de Leiden. A detecção da mutação no gene do fator V foi realizada entre portadores da mutação no estado heterozigoto. Este estudo foi realizado no Centro de Hematologia e Hemoterapia do Ceará - Hemoce. Observou-se a presença da mutação no estado heterozigoto na família 1 (83,3%), na família 2 (40%) e na família 3 (50%). No total de 24 membros (pacientes e familiares) analisados, 50% (12/24) apresentaram a mutação, todos no estado heterozigoto, 66,7% (8/12) não apresentaram trombose. A detecção do fator V de Leiden em pacientes portadores de eventos trombóticos é recomendado para esclarecimento das causas e para efetuar o rastreamento em membros de sua família, ainda sem o aparecimento de eventos trombóticos, de forma a avaliar os riscos associados e assim determinar um acompanhamento médico preventivo.

GNN is a self-glucosylating protein involved in the initiation step of glycogen biosynthesis in Neurospora crassa

The initiation of glycogen synthesis requires the protein glycogenin, which incorporates glucose residues through a self-glucosylation reaction, and then acts as substrate for chain elongation by glycogen synthase and branching enzyme. Numerous sequences of glycogenin-like proteins are available in the databases but the enzymes from mammalian skeletal muscle and from Saccharomyces cerevisiae are the best characterized. We report the isolation of a cDNA from the fungus Neurospora crassa, which encodes a protein, GNN, which has properties characteristic of glycogenin. The protein is one of the largest glycogenins but shares several conserved domains common to other family members. Recombinant GNN produced in Escherichia coli was able to incorporate glucose in a self-glucosylation reaction, to trans-glucosylate exogenous substrates, and to act as substrate for chain elongation by glycogen synthase. Recombinant protein was sensitive to C-terminal proteolysis, leading to stable species of around 31 kDa, which maintained all functional properties. The role of GNN as an initiator of glycogen metabolism was confirmed by its ability to complement the glycogen deficiency of a S. cerevisiae strain (glg1 glg2) lacking glycogenin and unable to accumulate glycogen. Disruption of the gnn gene of N. crassa by repeat induced point mutation (RIP) resulted in a strain that was unable to synthesize glycogen, even though the glycogen synthase activity was unchanged. Northern blot analysis showed that the gnn gene was induced during vegetative growth and was repressed upon carbon starvation. (C) 2004 Elsevier B.V. All rights reserved.

Penfigo foliaceo no Hospital das Clinicas da Faculdade de Medicina de Botucatu, SP

BACKGROUND - Pemphigus foliaceus is an autoimmune bullous disease that is endemic in Brazil and in other South American countries such as Paraguay, Bolivia, Peru and Colombia. OBJECTIVES - To compare the observed clinical and epidemiological data with those referred in the literature. METHOD - Retrospective study in patients with pemphigus foliaceus admitted to and treated at University Hospital of the School of Medicine of Botucatu, SP, Brazil, from 1976 to 1993, analyzing the following variables: age, sex, race, origin and onset of disease. RESULTS - From 1976 to 1993, 63 patients were treated, with an average of 3.7 cases/year. Patients within the age range of 20 to 60 years old were the most affected. Most of the patients were white, females being slightly more affected than males. The majority of male patients were rural workers. Some towns presented higher incidence of cases. Most of the patients from rural areas became sick mainly in summer and in autumn. Occurrence of similar cases was observed in blood-related family members and neighbors. CONCLUSIONS - Clinical and epidemiological data were similar to those referred in the literature.

A família do portador de sofrimento psíquico e os serviços de saúde mental: Estudo de caso

This qualitative research, case study type, aimed at presenting the understanding of psychic sufferers in search for mental health services during emergency situation, partial hospitalization or in ambulatory services. 12 family members were interviewed. They reported difficulties in the attendance in the emergency room when the patient is in crisis, as well as doctors considering merely the present symptomatology and undervaluing their own knowledge of the sickening process. The day-care hospital is conceived as a place to provide care, occupation and should teach as a school. The ambulatory service represents for the family the possibility of the patient being responsible for their attendance to the consultations and for the correct use of the medication.

Care arrangements for people with dementia in developing countries

Background: Rapid demographic ageing will soon lead to large increases in the numbers of persons with dementia in developing countries. This study is the first comprehensive assessment of care arrangements for people with dementia in those regions. Methods: A descriptive and comparative study of dementia care; caregiver characteristics, the nature of care provided, and the practical, psychological (Zarit Burden Interview, General Health Questionnaire) and economic impact upon the caregiver in 24 centres in India, China and South East Asia, Latin America and the Caribbean and Africa. Results: We interviewed 706 persons with dementia, and their caregivers. Most caregivers were women, living with the person with dementia in extended family households. One-quarter to one-half of households included a child. Larger households were associated with lower caregiver strain, where the caregiver was co-resident. However, despite the traditional apparatus of family care, levels of caregiver strain were at least as high as in the developed world. Many had cutback on work to care and faced the additional expense of paid carers and health services. Families from the poorest countries were particularly likely to have used expensive private medical services, and to be spending more than 10% of the per capita GNP on health care. Conclusions: Older people in developing countries are indivisible from their younger family members. The high levels of family strain identified in this study feed into the cycle of disadvantage and should thus be a concern for policymakers in the developing world. Copyright © 2004 John Wiley & Sons, Ltd.

The plant energy-dissipating mitochondrial systems: Depicting the genomic structure and the expression profiles of the gene families of uncoupling protein and alternative oxidase in monocots and dicots

The simultaneous existence of alternative oxidases and uncoupling proteins in plants has raised the question as to why plants need two energy-dissipating systems with apparently similar physiological functions. A probably complete plant uncoupling protein gene family is described and the expression profiles of this family compared with the multigene family of alternative oxidases in Arabidopsis thaliana and sugarcane (Saccharum sp.) employed as dicot and monocot models, respectively. In total, six uncoupling protein genes, AtPUMP1-6, were recognized within the Arabidopsis genome and five (SsPUMP1-5) in a sugarcane EST database. The recombinant AtPUMP5 protein displayed similar biochemical properties as AtPUMP1. Sugarcane possessed four Arabidopsis AOx1-type orthologues (SsAOx1a-1d); no sugarcane orthologue corresponding to Arabidopsis AOx2-type genes was identified. Phylogenetic and expression analyses suggested that AtAOx1d does not belong to the AOx1-type family but forms a new (AOx3-type) family. Tissue-enriched expression profiling revealed that uncoupling protein genes were expressed more ubiquitously than the alternative oxidase genes. Distinct expression patterns among gene family members were observed between monocots and dicots and during chilling stress. These findings suggest that the members of each energy-dissipating system are subject to different cell or tissue/organ transcriptional regulation. As a result, plants may respond more flexibly to adverse biotic and abiotic conditions, in which oxidative stress is involved. © The Author [2006]. Published by Oxford University Press [on behalf of the Society for Experimental Biology]. All rights reserved.

A família do paciente em situação crônica de vida: a visão de enfermeiros de um hospital de ensino

This exploratory descriptive study, of qualitative nature had the purpose to study how the nurses from a hospital school see the family as care participants. Six nurses from clinics of chronically ill patients were interviewed. The data analysis allowed to infer that the nurses had only little knowledge of the family's thematic during graduation, making the relationship with the accompanying families very difficult. Daily care during hospitalization period is marked by easy moments when members are willing to participate in the process, and by difficulties when they attempt to break institutional rules. It was suggested that new nurses have theoretical foundation to attend the family in several scenarios of care. It was considered the need of investments in professional training, and that the advance of humanization of services implies in exchange and integration of knowledge among patients, family members, health professionals, support staff and managers beyond the science field.

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DMA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.

Desempenho em consciência fonológica, memória operacional, leitura e escrita na dislexia familial

Background: familial dyslexia. Aim: to characterize and compare the phonological awareness, working memory, reading and writing abilities of individuals whose family members are also affected. Method: in this study 10 familial nuclei of natural family relationship of individuals with dyslexia were analyzed. Families of natural individuals living in the west region of the state of São Paulo were selected. Inclusion criteria were: to be a native speaker of the Brazilian Portuguese language, to have 8 years of age or more, to present positive familial history for learning disabilities, That is, to present at least one relative with difficulties in learning. Exclusion criteria were: to present any neurological disorder genetically caused or not, in any of the family members, such as dystonia, extra pyramidal diseases, mental disorder, epilepsy, attention deficit and hyperactivity disorder (ADHA); psychiatric symptoms or conditions; or any other pertinent conditions that could cause errors in the diagnosis. As for the diagnosis of developmental dyslexia, information about the familial history of the adolescents and children was gathered with the parents, so that a detailed pedigree could be delineated. Neurological, psychological, speech-language, and school performance evaluations were made with the individuals and their families. Results: the results of this study suggest that the dyslexic individuals and their respective relatives, also with dyslexia, presented lower performances than the control group in terms of rapid automatic naming, reading, writing and phonological awareness. Conclusion: deficits in phonological awareness, working memory, reading and writing seem to have genetic susceptibility that possibly determine, when in interaction with the environment, the manifestation of dyslexia.

Utilização do alcohol use disorders identification test (Audit) para identificação do consumo de álcool entre estudantes do ensino médio

Alcohol is one of the drugs most widely used among teenagers. Just recently, studies have been developed regarding the screening of use of alcohol by this population. This work aimed to investigate the use of AUDIT as a method for screening and evaluation of alcohol consumption among High School students. The sample was composed by 1227 students from two public schools, who answered to the Alcohol Use Disorders Identification Test (AUDIT) and informed their socioeconomic level, religion, and occurrence of relationship problems caused by drunkenness of family members. Using an 8 cut-off point, AUDIT has identified 17.8% of students with risk drinking. These results have revealed that AUDIT is easy to be applied and well accepted by the students. It was also evident the importance of this instrument in the follow-up programs of prevention and intervention of alcoholic beverages use.

Aspectos relacionais, familiares e sociais da relação pai-filho com deficiência física

The survey sought information from the relationship between father and child with disability regarding space, responsibilities and feelings in the parental relationship. Ten fathers, aged 31 to 66 years, with varied educational and professional backgrounds, answered a questionnaire with 19 semi-structured questions grouped into 16 categories of analysis. The conclusion showed that fathers perceive disability differently over time. The information usually comes from a doctor, but when the disability is not very evident, and doesn't cause significant impairment, realization comes over time. The shock of the discovery and behaviors of rejection are major feelings for fathers. Most fathers report differences in roles played by women and men in raising children; they believe that their responsibility is to provide for the family, while the mother's duty is to accompany the child. They feel that they share with the mothers the responsibility for caring for the child and, in general they don't feel they have been accused of being distant. They try to follow the child's treatment. The children are as attached to them as to other family members. To live with a minimum of quality of life they agreed unanimously about the need for greater income and benefits from social welfare. Most recognize that they are afraid of having other children with disabilities. They express low expectations for the total independence of the children, and among the fathers who have more than one child, the majority acknowledged the existence of differential treatment. They attributed the causes to medical errors. Fathers feel much the same as mothers, but they have different ways of demonstrating what they feel.

Avaliação da intervenção psicoterapêutica de modelo analitico em crianças e adolescentes com doenças onco-hematológicas

Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

Padrão de uso de alcool e outras drogas entre estudantes de Cascavel - PR

Pós-graduação em Educação - FFC