Estudo genético-clínico de mucopolissariodoses no estado do Ceará

As mucopolissacaridoses (MPS) são doenças genéticas raras decorrente da deficiência de enzimas lisossomais envolvidas no catabolismo de glicosaminoglicanos, resultando em um amplo espectro de manifestações clínicas, progressivas e multissistêmicas, exigindo tratamento por uma equipe multidisciplinar. Embora o Nordeste brasileiro seja uma região com grande taxa de consangüinidade e um efeito fundador envolvendo MPS, não há estudos caracterizando os pacientes dessa região. Nosso objetivo foi determinar o perfil epidemiológico, clínico e genético de casos não publicados com MPS provenientes do Ceará, identificando as diferenças entre outros estudos com MPS e possíveis problemas a serem enfrentados para a realização do diagnóstico precoce. O estudo foi seccional, descritivo, com amostra de pacientes com MPS em acompanhamento no Hospital Infantil Albert Sabin e Hospital Geral Cesar Cals no período de 2006-2013. Os dados foram obtidos a partir da avaliação clínica, revisão de prontuários médicos e entrevista com os pacientes e/ou familiares realizadas pelo investigador principal. Cinquenta e três pacientes foram incluídos no estudo (36 do sexo masculino), sendo 6 MPS I, 17 MPS II, 7 MPS III (3 MPSIII-A, 3 MPS III-B, 1 MPS III-C), 7 MPS IV-A, 16 de MPS VI. O óbito ocorreu em 16 casos (3 MPS I, MPS II 6, 1 MPS IIIA , IIIB 1MPS , 1 MPS IV , 4 MPS VI). A amostra foi composta principalmente por crianças. Houve elevada taxa de consangüinidade e recorrência familiar. Os tipos mais comuns foram MPS II e MPS VI. Exceto para macrossomia em MPS II, os dados de nascimento indicam que não houve risco para desenvolvimento de viii complicações perinatais. Os sintomas iniciaram em crianças com menos de 2 anos. As manifestações clínicas foram heterogêneas exceto para atraso no desenvolvimento neurológico em MPS III e manifestações esqueléticas em MPS IV. As principais características clínicas foram macrocefalia, baixa estatura, alterações odontológicas, respiratórias, cardíacas, hepatoesplenomegalia, hérnia umbilical, rigidez articular e anormalidades esqueléticas. A terapia de reposição enzimática foi instituída em 26 casos (4 MPS I, 10 MPS II, 12 MPS VI). Os problemas sócio-econômicos das famílias, o amplo espectro de sintomas e a gravidade da doença foram causas das dificuldades em realizar a avaliação periódica pela equipe multidisciplinar, além de exames complementares de maior custo para determinar as complicações da doença. Este foi o maior estudo transversal sobre MPS no Nordeste do Brasil. Em contraste com a maior incidência de MPS I na maioria das populações ocidentais, houve maior incidência de MPS II e VI. As alterações respiratórias foram um dos principais contribuintes para a mortalidade precoce, exceto nos casos de MPS I, em que a cardiomiopatia foi prevalente. A menor expectativa de vida ocorreu em MPS I. O envolvimento cognitivo foi comum em casos graves e o maior número de órgãos envolvidos representou maior risco de morrer. Para o diagnóstico precoce, deve-se buscar indivíduos afetados em famílias em que há parentes com MPS, além do maior reconhecimento de sinais e sintomas de MPS por profissionais de saúde

Design de interfaces para aplicativo de smartphone como recurso auxiliar no acompanhamento clínico de pacientes fibromiálgicos

Este trabalho tem como objetivo o desenvolvimento de interfaces com o usuário para aplicativo móvel smartphones com intuito de contribuir para a eficiência das atividades de profissionais e pesquisadores da área de fisioterapia ao oferecer suporte ao acompanhamento clínico da dor no tratamento de pacientes fibromiálgicos. Utilizando a abordagem de Design Centrado no Usuário - DCU, foram realizadas entrevistas e uma investigação contextual para a identificação inicial dos problemas e necessidades dos usuários. Verificou-se que as atividades de monitoramento e acompanhamento das sessões do tratamento de pacientes fibromiálgicos são, tradicionalmente, realizadas por meio de manipulando de formulários e fichas em papel (registro das condições de saúde do paciente) e escalas de classificação da dor em formato impresso (apresentadas ao paciente para indicação de sua dor percebida para cada ponto pré-determinado do corpo). Os procedimentos envolvidos nestas atividades dificultam o gerenciamento do desempenho do tratamento, o que, segundo relatos, reflete no comprometimento dos pacientes na adesão e frequência as sessões. A partir da observação e do levantamento das necessidades desses profissionais diante de suas atividades, foi proposto um aplicativo para smartphone com a intenção de minimizar os problemas ocasionados pelo uso das ferramentas convencionais e de prover informações rápidas acerca dos dados coletados. Então, seguindo a abordagem do DCU foi elaborado um modelo conceitual durante a etapa de concepção de soluções, o qual guiou a criação dos protótipos. A avaliação das interfaces do protótipo foi realizada com o envolvimento dos usuários a partir da técnica de avaliação cooperativa. Seus resultados proporcionaram o refinamento das interfaces e o desenvolvimento de uma nova proposta do design das interfaces em protótipo de alta fidelidade, produzido para o ambiente Android. Assim, esse trabalho faz parte do processo de desenvolvimento de um produto de software personalizado com foco na concepção e avaliação das interfaces com o usuário. Por meio da metodologia aplicada, observaram-se indícios os quais sugerem que as interfaces propostas apresentaram-se como um recurso facilitador e capaz de contribuir para eficiência das atividades no acompanhamento do tratamento de pacientes fibromiálgicos

Políticas públicas de atendimento à criança: desafio da ação articulada no Projeto Belém Criança (2001-2004)

Public politics of Service to the Child: The Challenge of the Action Articulated in the Project Belém Criança (2001-2004) if it constitutes in a study on the politics directed toward the children of 0 the 6 years. It has as objective to analyze the configuration of the politics of integral attention to the child, evidencing the form as the same ones they had been redimensioned by the neoliberal ideas and by the lines of direction of the international organisms. The work has like empiric reference the project Belém Criança, developed by county of Belém from a partnership with the Deep of United Nations for Infancy (UNICEF), in the period of 2001 and 2004. The project intends to develop an articulated action among the several county departments which offer assistance to the children looking for to rationalize the resources and to optimize the services. Amongst the methodological procedures that materialized the research distinguished: The bibliographical review and documental allowed to analyze the contextualization of the public politics and, between them, the social politics of attendance to the child; the historical revolution this attendance; the paper of the UNICEF how articulator of the politics in municipal scope; and the paper of county how executer these politics. Still it was utilized, the half-structuralized interview, Having like subjects: the representative of the UNICEF in Belém, the municipal co-managers and actors of community in which the project was implemented. The result of the analyzes review that, historically, the politics destined to the child they had been being dimensioned having like support the fight of social movements vindictive for publics politic which guarantee the fundamentals rights these citizen. Although legal dimension of current politics of attendance to the child, to assume a vision of completeness and the guarantee of the rights, it still has a great exaggeration between the speech and the practical one. Actually, the same one are elaborate inside the neoliberal optics, with ruled actions by the beginning in combat to the poverty, implanted with low costs and with practice which to lead to the excessive fragmentation, generating inadequate actions and punctual programs which don t guarantee the social quality of the attendance. This perspective was evidenced to the most of the actors which the Project Belém Criança don t constitute itself a real public politic toward the child of 0 the 6 years, although present innovating aspects, how the mobilization and participation. It was demonstrated yet, in the participant s depositions of the research, that the bureau had numberless of difficulty to develop the action preview in the project, it has seen the great complexity of articulation between the several organism responsible by politics of attendance

Uma intervenção educativa para profissionais de saúde na prevenção de pneumonia associada à ventilação mecânica

Quasi-experimental study, prospective with quantitative approach, performed at the Hospital do Coração in Natal, aimed at verified the existence of difference between the care given by health professionals to the patients under mechanical ventilation (MV) in the Intensive Care Unit, before and after an educative intervention. The population was of 31 professionals, with data collected between november 05 of 2007 to march 27 of 2008. The results show a yong population, female gender, middle level of education, nursing technique, working between 05 and 09 years on nursing profession, and 01 to 04 years on Intensive Care Unit; almost all, never had an kind of training over prevent pneumonia associated to mechanical ventilation; from those that had training, occur on the work place with duration from 12 to 24 hours. About endotracheal intubation, the cuff was tested with a sterilized syringe had a positive change after a educative intervention, increased from 75,0% to 100,0%; the sterile guide was used on 75,0% before and 100,0% after an educative intervention. Regarding endotracheal suction procedure, was not informed to the patient on 72,7% before, however was informed on 56,7% after; the hands was not previously washed 68,5% before, however was 63,3% after the procedure; mask was used on 74,2 % opportunities before and 76,7% after; the aspiration catheter had adequated size on 98,9% observation before and 100,0% after; the gaze was sterilized on 95,7% before and 100,0% after; the ventilator was connected to the patient during the aspiration intervals on 94,4% observation before and 100,0% after; the ambu bag was clean and protected on 76,1% before and 85,7% after; the aspiration catheter was discarded after be used on 98,9% before and 100,0% after; FIO2 was turned to the begging value on 32,9% observation before and 12,0% after; before the procedure 71,9% professions washed their hands and 73,3% after; before, notes of aspiration results were performed on 70,8% observation and 86,7% after. Regarding devices used on respiratory tract, aspirator flasks were not swapped on 84,6% observations before and 71,0% after; daily látex extention change was not performed on 93,6% observation before and 87,1% after; the ambu bag change was not performed on 50,0% observation before even if was duty or unprotected and on 75,8% opportunities was changed, after; nebulization was not prepared with sterile fluids or manipulated aseptically on 65,2% observation before, perhaps was on 71,7% after; before nebulizers were not changed on 65,2% observations, perhaps were on 60,9% after. Concerning ventilator breathing circuits, condense fluids cumulated on circuits were removed on 55,0% opportunities before, and 64,0% after; moisturizer was not filled with sterile water when already had small amount of liquid inside on 78,4% observations before, and 90,2% after; MV circuits were changed on 97,0% observations on presence of visible duty or when presents some kind of failure, before and 98,4% after. About body position, on 51,3% observations the decubitus position change were done before and 78,2% after; fowler position was maitened on 95,5% observations before and 98,2% after; Regarding respiratory physiotherapy, enteral diet was not interrupted before respiratory physiotherapy on 94,9% before and 90,0% after; respiratory physiotherapy devices were not disinfected or sterile on 69,6% observations before but they re on 60,0% after; before the cateter was not tested before introduction enteral diet or medications on 100,0% but after was done on 15,2%. About enteral feeding, intestine motility and measure of stomach contents were not done on 100,0% observations before, but was 15,2% after. We conclude that 05 of 07 valuated procedures in relation to MV, had a significant improvement on quality of care given after educative intervention, when compared before intervention

Acompanhando o crescimento e o desenvolvimento da criança : uma intervenção integrada entre enfermagem e família

The accompanying the growth and development of the child is the guiding line of basic health measures directed at this public, acting within the scope of health monitoring and inferring positively in the rate of infant morbidity and mortality, which are still a preoccupation worldwide and in Brazil. However, mostly, this practice is based on the biomedical model of care, individualized, with emphasis on the medicalization and complaints, favoring the passivity of users. Given this issue, aim to develop accompanying the growth and development of the child in a Basic Unit Family Health, through a collective approach of medical care next to a health team, especially nurses and caregivers. This is a qualitative study, with the research-action method. Involved the four nurses and twenty-six of children's caregivers of the area of Basic Unit Family Health of Cidade Nova, in Natal, in the period from February to July 2010. The results were analyzed following the direction of the thematic analysis of Freire. In the situation analysis of the current reality of the accompanying the growth and development the children in the Basic Unit Family Health, through participant observation and applying a questionnaire to the nurses, we realize that despite these professionals have a knowledge tied to the paradigm of health promotion, in practice the monitoring of child is done through individual consultations in outpatient room, based on complaints brought by caregivers, with little solvability in actions employed. Given the need for change in medical care model, we decided jointly, in the focal group, for the collective monitoring of children's the growth and development, featuring then this proposal to the multidisciplinary team, discussing the participation of professional categories and planned collectively the actions. In the implementation stage of collective action, we contemplate the execution by the caregivers of anamnesis and physical examination, recording data in the Child Health Handbook and discussion of clinical findings, under the supervision of nurses and facilitators. In the evaluation, we found that this collective accompanying strategy allowed to caregivers learn new knowledge, exchange experiences, assistance in home care, beyond reduce the waiting time for medical care and creating opportunity of more time for debate about the children‟s health situation, differing of ambulatory care. As difficulties, we face with a high rate of defaulters (53.8%), lack of motivation and passivity of the users, little participation of other health professionals and nurses' involvement in other activities, technical and bureaucratic in the moment of care. Thus, we note also a strong rooting of individual clinical model on the way of thinking and acting of nurses and caregivers

Vivência de mulheres no puerpério : significado atribuído à revisão pósparto

The consultation for women during the postpartum period should occur between the seventh and tenth days, and 42 days after childbirth, to decrease the incidence of maternal and neonatal morbidity and mortality. However, the effectiveness of such assistance in primary health care has not been achieved, especially in the forty-second day of puerperium. Facing this reality, the research aimed to understand the views of women about postpartum consultation. This is an exploratory and descriptive research with qualitative approach, developed in the municipality of Lajes/RN, Brazil, with women inscribed on the four teams that make up the Family Health Strategy. Data were collected through semistructured interviews with 15 women who met the following criteria: be enrolled in ESF; have health mental preserved, have been entered in the Humanization Program of Prenatal and Birth, and that was, at maximum, 60 days postpartum. The data were organized according to the precepts of content analysis according to Bardin, generating three categories: prevention of puerperal complications, feelings related to life changes after childbirth, and postpartum care. This process of coding and categorizing a central theme emerged: the experience of women in the postpartum period. The data were analyzed according to the principles of symbolic interactionism, according to Blumer. The study revealed that the meanings attributed to the postpartum period for prevention of complications were directly related to home, to the consultation and postpartum care provided by family members and health professionals. The interviewees strictly complied with the rest under the influence of the context in which they were entered. But that has not happened with the postpartum revision because few mothers underwent this procedure. Therefore, the interaction of the interviewed people in their living standard as well as the feelings that permeated the post-partum were crucial to consider whether or not the post-partum visit as significant. According to the results, it was noted that disability guidelines and counter-references has impaired the access of women to postpartum review. Thus, further studies are needed on the subject, as well as a reorientation of health care activities in view of the consolidation of postpartum consultation in primary care

Efeitos do tratamento com Hidrogel na cicatrização de úlceras venosas de membros inferiores: revisão sistemática

Chronic venous disease (CVD) is evident among the chronic diseases and affects the elderly population and primarily is responsible for leg ulcers in this population. The use of dressings in the care of a venous ulcer is a fundamental part of the treatment for healing, however, evidence to assist in choosing the best dressing is scarce. The main objective of this study was to evaluate the effectiveness of treatment with hydrogel in the healing of venous ulcers using search methods, synthesis of information and statistical research through a systematic review and meta-analysis. Randomized controlled trials were selected in the following databases: CENTRAL; DARE; NHS EED; MEDLINE; EMBASE; CINAHL. Beyond these databases three websites were consulted to identify ongoing studies: ClinicalTrials.gov, OMS ICTRP e ISRCTN. The primary outcomes were analyzed: complete wound healing, incidence of wound infection and the secondary were: changes in ulcer size, time to ulcer healing, recurrence of ulcer, quality of life of participants, pain and costs of treatment. Four studies are currently included in the review with a total of 250 participants. The use of hydrogel appears to be superior to conventional dressing, gauze soaked in saline, for the healing of venous leg ulcers; 16/30 patients showed complete healing of ulcers (RR 5,33, 95%CI [1,73,16,42]). The alginate gel was shown to be more effective when compared to the hydrogel dressing in reduction of the wound area; 61,2% (± 26,2%) with alginate e 19,4% (± 24,3%) with hydrogel at the end of four weeks of treatment. Manuka honey has shown to be similar to the hydrogel dressings in percentage of area reduction. This review demonstrated that there is no evidence available about the effectiveness of the hydrogel compared to other types of dressings on the healing of venous leg ulcers of the lower limbs, thus demonstrating the need of future studies to assist health professionals in choosing the correct dressing.

No pulsar da clínica: a repetição e as produções corporais de uma criança

This study investigates the Repetition of movements shown in a stereotypical case of a child three years old. In line with the psychoanalysis model of search, this work presents fragments of the clinic process, the locus for the observation of repetitive, ritualized and choreographically movements of this child who used not to speak. The contrast between their movements and the issuance of a word verbalized at the end of the treatment caused the following question: repetition in this child production would be a reproduction of the same or would be directing for the difference? In the psychiatric speech, the stereotypes are listed as diagnostic criteria for certain mental disorders. In the psychoanalysis studies a question about the psych nature of ritualistic gestures apparently without purpose or direction is included. Thus, the route followed was the reading of the theoretical concept of repetition in the psychoanalytic works of S. Freud and J. Lacan. With Freud, the repetition is linked to the transfer and resistance. In that context, when it appears in act, in the place of the talk, it constitutes a particular way of remembering. But the existence of a force in the psychic apparatus that acts independent and involuntarily of the Principle of pleasure (the repetition compulsion) subsidizes the discovery of Freudian pulsion of death that is the tendency to return to itself. In the Lacan reading, the function of Repetition is magnified, as it fulfils two functions: the automaton - reminders of repetitive signs, and that the service of tiqué - the meeting of the subject with his lack constituent. In this sense, repetition is not simply a reproduction, but the search for new, the difference, caused by the lack of continuity that pushes the circuit. Finally, the clinic process and the theoretical readings made the comprehension of the child repetitive and choreographically movements and the pronouncement of a "good-bye", full of meaning. This repetitive scenario which is full of questions, by this very nature, insists in remains inconclusive

Ser-no-mundo com a criança portadora de câncer compreendendo a experiência de psicólogos nos serviços de oncologia pediátrica de Natal-RN

Cancer goes on to be a frightening disease by humanity, simetimes,it is considered as death, suffering and stigma synonym. Occurring at childhood, this meaning seems to acquire a more intense conotation, having in view of the perplexity and godliness feeling in the presence of the precocity of events, nearly always associated to the death. A psychologist co-existence with the cancer children is going acquiring, thus, a permeated sense by incognitas , fears and fantasy, which raised us the following question: how does the psychologist that answers children with cancer lives this experience? Therefore, the aim this research was to understand this co-existence experience. Our theoretical perspective comes from an existencial fenomenology and, more specifically, the Humanistic Approach and Martin Heidegger Existencial Ontology. The metodology is qualitative of phenomenological character. The access instrument to the experience was the narrative, such as purpose by Walter Benjamin. They were carried out nine semi-open interviews with psychologists who work on pediatric oncology services of Natal-RN city. Such interviews were recorded in cassette, transcripted and later, re-educated. These interviews were recorded, transcribed and later on edited with the help of the interviewee and turned into a text. The narrative comprehension was carried out on Heidegger Existencial Ontology, on dada exaustive reading and the clipping of indicative passages of experience sense of being psychologist on this area. The research suggests that the experience is oriented of clinic kowing-doing, being crossed by implications of key thematics which indicate the care as central ontologic element that orientates the way as these professionals come being in the world in association with the clientèle. Besides, the caring experience of these children acquire the sense of true living experience, since the cancer undoes the immortality illusion, launching the psychologist to his/her condition of being to the death and with that, calling him/her the authenticity. Is is only not dealt with to experience the anguish and the death imminence, but above all, re-meaning them in favour of a continual learning, of quality answering , besides other possibilities. Working with child cancer brings news perspectives and world views, making the psychologist a more human people and sensitive to the distracted needs. And we believe that, regardless of area which actuates, being psychologist is a particular way which choose to be citizen. Is is a project that will be delimited by society, history and culture and after all, by us like human being. Therefore, we understand that the results this research suggest the discussed thematic deepening on this intervention field in order to new sense possibilities can arise giving origin to other reflections about the clinical practice, the professional formation in Psychology and other possible developments