Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK.

AMP-activated protein kinase (AMPK) regulates many different metabolic pathways in eukaryote cells including mitochondria biogenesis and energy homeostasis. Here we identify a patient with hypotonia, weakness, delayed milestones and neurological impairment since birth harbouring a novel homozygous mutation in the AMPK catalytic α-subunit 1, encoded by the PRKAA1 gene. The homozygous mutation p.S487L in isoform 1 present in the patient is in a cryptic residue for AMPK activity. In the present study, we performed the characterization of mitochondrial respiratory properties of the patient, in comparison to healthy controls, through the culture of skin fibroblasts in order to understand some of the cellular consequences of the PRKAA1 mutation. In these assays, mitochondrial respiratory complex I showed lower activity, which was followed by a decrement in the mtDNA copy number, which is a probable consequence of the lower expression of PGC-1α and PRKAA1 itself as measured in our quantitative PCRs experiments. Confirming the effect of the patient mutation in respiration, transfection of patient fibroblasts with wild type PRKAA1 partially restore complex I level. The preliminary clinic evaluations of the patient suggested a metabolic defect related to the mitochondrial respiratory function, therefore treatment with CoQ10 supplementation dose started four years ago and a clear improvement in motor skills and strength has been achieved with this treatment.

A importância de uma base de dados na gestão de serviços de saúde / The importance of a database in the management of healthcare services

OBJETIVO: Apresentar o perfil epidemiológico de pacientes com câncer pertencentes à base de dados do Registro Hospitalar de Câncer e relatar a importância dessa base para a gestão de serviço de saúde de um Centro de Oncologia e Hematologia. MÉTODOS: Estudo retrospectivo, realizado com levantamento de 1.617 prontuários, entre os anos de 2004 a 2009. Os cânceres analisados foram de cólon e reto, mama, próstata e pulmão. As variáveis utilizadas no estudo foram idade, gênero, estadiamento da doença ao diagnóstico e tipo de tratamento. Para a coleta de dados, utilizou-se o software SisRHC e, na análise, utilizou-se o software Excel®. Para a segurança e confiabilidade dos dados, foram utilizadas senhas de acessos aos arquivos, backups semanais das planilhas, além do CPF do paciente, a fim de evitar duplicidade. RESULTADOS: Do total de 1.617 prontuários analisados, 36,42% pertenciam ao grupo topográfico de mama e aproximadamente 40% dos pacientes com câncer de cólon e reto tinham 70 anos ou mais. O estadiamento II foi prevalente, representando 44% da amostra, e o tratamento mais empregado foi a cirurgia (57% dos casos). CONCLUSÃO: O presente estudo sugeriu que a base de dados do Registro Hospitalar de Câncer tem papel relevante por ser capaz de gerar um conjunto de importantes informações relacionadas ao câncer e que, por meio dessas informações, é possível realizar estudos epidemiológicos que permitam gerar ações de melhoria gerencial e assistencial a essa população.

OBJECTIVE: To present the epidemiological profile of cancer patients belonging to a database of a Hospital Cancer Registry and to report on the importance of this database in managing healthcare services at an Oncology and Hematology Center. METHODS: A retrospective survey conducted with 1617 records of patients diagnosed with cancer at the institution between 2004 and 2009. The types of cancer analyzed were of the colon and rectum, breast, prostate and lung. The variables used in the study were age, gender, stage of disease upon diagnosis and treatment. Researchers used an application called SisHCR for data collection, and Excel® for data analysis. To ensure data safety and reliability, passwords were required for accessing files, spreadsheets were backed up on a weekly basis, and patients' CPF numbers were used to avoid data duplication. RESULTS: Of the 1617 records analyzed, 36.42% belonged to the topographic group of the breast, and approximately 40% of patients with colorectal cancer were 70 years of age or older. Stage II was prevalent, representing 44% of the sample, and the treatment most used was surgery (57% of cases). CONCLUSION: The study suggested that the Hospital Cancer Registry database is an instrument capable of generating important information about cancer, and that through this information, epidemiological studies can be carried out and the processes of management and care can be improved.

[The virtual environment of a research group: the tutors' perspective]. / Espaço virtual de um grupo de pesquisa: o olhar dos tutores.

The Grupo de Estudos e Pesquisas de Tecnologia da Informação nos Processos de Trabalho em Enfermagem (Study and Research Group for Information Technology in the Nursing Working Processes, GEPETE) has the purpose of producing and socializing knowledge in information technology and health and nursing communication, making associations with research groups in this field and promoting student participation. This study was performed by the group tutors with the objective to report on the development of the virtual learning environment (VLE) and the tutors' experience as mediators of a research group using the Moodle platform. To do this, a VLE was developed and pedagogical mediation was performed following the theme of mentoring. An initial diagnosis was made of the difficulties in using this technology in interaction and communication, which permitted the proposal of continuing to use the platform as a resource to support research activities, offer lead researchers the mechanisms to socialize projects and offer the possibility of giving advice at a distance.

Espaço virtual de um grupo de pesquisa: o olhar dos tutores / The virtual environment of a research group: the tutors' perspective / Espacio virtual de un grupo de investigación: la visión de los tutores

O Grupo de Estudos e Pesquisas de Tecnologia da Informação nos Processos de Trabalho em Enfermagem (GEPETE) visa produzir e socializar o conhecimento na área de tecnologia da informação e comunicação na saúde e enfermagem, articular a integração com grupos de pesquisas desta área e propiciar a participação de alunos. O estudo realizado pelos tutores teve como objetivo relatar a construção do ambiente virtual de aprendizagem (AVA) e a experiência dos tutores como mediadores de um grupo de pesquisa na plataforma Moodle. Para tanto, foi construído um AVA, realizada a mediação pedagógica sob a temática tutoria e o diagnóstico inicial em relação às dificuldades na utilização da tecnologia na interatividade e na comunicação, o que permitiu a proposição da continuidade da utilização da plataforma como um recurso para apoiar as atividades de pesquisa, oferecer aos líderes pesquisadores mecanismos para socialização dos projetos e possibilidades de orientação à distância.

The Grupo de Estudos e Pesquisas de Tecnologia da Informação nos Processos de Trabalho em Enfermagem (Study and Research Group for Information Technology in the Nursing Working Processes, GEPETE) has the purpose of producing and socializing knowledge in information technology and health and nursing communication, making associations with research groups in this field and promoting student participation. This study was performed by the group tutors with the objective to report on the development of the virtual learning environment (VLE) and the tutors' experience as mediators of a research group using the Moodle platform. To do this, a VLE was developed and pedagogical mediation was performed following the theme of mentoring. An initial diagnosis was made of the difficulties in using this technology in interaction and communication, which permitted the proposal of continuing to use the platform as a resource to support research activities, offer lead researchers the mechanisms to socialize projects and offer the possibility of giving advice at a distance.

El Grupo de Estudios e Investigaciones de Tecnología de la Información en Procesos de Trabajo de Enfermería (GEPETE) apunta a producir y socializar conocimiento en el área de tecnología de información y comunicación en salud y enfermería, articular la integración con grupos de investigación del área y facilitar la participación de alumnos. El estudio realizado por tutores objetivó relatar la construcción del ambiente virtual de aprendizaje (AVA) y la experiencia del tutor como mediador de un grupo de investigación en plataforma Moodle. Para ello se construyó un AVA, realizándose la mediación pedagógica bajo la temática tutoría y el diagnóstico inicial en relación a las dificultades de utilización de tecnología en interactividad y comunicación, lo que permitió la proposición de continuidad de utilización de la plataforma como recurso de apoyo a las actividades investigativas, ofreciendo a los líderes investigadores mecanismos para socialización de proyectos y posibilidades de orientación a distancia.

The importance of a database in the management of healthcare services.

OBJECTIVE: To present the epidemiological profile of cancer patients belonging to a database of a Hospital Cancer Registry and to report on the importance of this database in managing healthcare services at an Oncology and Hematology Center. METHODS: A retrospective survey conducted with 1617 records of patients diagnosed with cancer at the institution between 2004 and 2009. The types of cancer analyzed were of the colon and rectum, breast, prostate and lung. The variables used in the study were age, gender, stage of disease upon diagnosis and treatment. Researchers used an application called SisHCR for data collection, and Excel® for data analysis. To ensure data safety and reliability, passwords were required for accessing files, spreadsheets were backed up on a weekly basis, and patients' CPF numbers were used to avoid data duplication. RESULTS: Of the 1617 records analyzed, 36.42% belonged to the topographic group of the breast, and approximately 40% of patients with colorectal cancer were 70 years of age or older. Stage II was prevalent, representing 44% of the sample, and the treatment most used was surgery (57% of cases). CONCLUSION: The study suggested that the Hospital Cancer Registry database is an instrument capable of generating important information about cancer, and that through this information, epidemiological studies can be carried out and the processes of management and care can be improved.

A comparison between expositive and simulation classes in the education of undergraduate nursing students.

This experimental study was aimed to compare the effectiveness of classroom dialogue-and a lesson in teaching the simulated recognition of signs and symptoms of stroke and clinical decisions, evaluating student satisfaction regarding the use of teaching strategies supported by new technologies. This research will provide understanding of how technology can support education Stroke, which is the third leading cause of death in the world.

Aula expositiva dialogada e aula simulada: comparação entre estratégias de ensino na graduação em Enfermagem / Lecture Through Dialogue and Simulated Classroom: Comparing Teaching Strategies in Undergraduate Nursing

Este estudo teve como objetivo geral analisar a eficácia da aprendizagem dos discentes, imediatamente, 15 e 30 dias após a aula expositiva dialogada e a aula simulada em laboratório de enfermagem. Tratou-se de um estudo longitudinal de abordagem quantitativa, tipo experimento antes e depois, que se constitui de um método experimental verdadeiro para a comparação da apreensão do conhecimento dos alunos na aula expositiva dialogada e na aula simulada no laboratório de enfermagem, tendo hipótese que a aula simulada é mais eficaz do que a aula expositiva dialogada para a apreensão do conhecimento em AVC na enfermagem. A população deste estudo foi composta por 42 alunos do 6º semestre da graduação em enfermagem da Faculdade de Enfermagem do Hospital Israelita Albert Einstein, que foram randomizados estatisticamente em dois grupos, controle e experimental. Foram consideradas como variáveis intervenientes ao processo de ensino e aprendizagem: idade, atuação profissional na área da saúde, média ponderada das notas do primeiro e segundo anos letivos e a nota da avaliação progressiva do conhecimento de 2009. Ambos os grupos foram submetidos a uma aula sobre o reconhecimento dos sinais e sintomas do Acidente Vascular Cerebral (AVC) e suas condutas assistencias. O grupo controle foi submetido a uma aula dialogada expositiva e o grupo Experimental a uma aula simulada em laboratório de enfermagem. Nas duas intervenções foi utilizado como cenário pedagógico a Teoria da AprendizagemSignificativa. Os resultados da pesquisa demonstram que a estratégia de aula simulada no laboratório de enfermagem é mais eficaz para a apreensão do conhecimento de forma significativa pelos discentes de graduação em enfermagem, com diferença estatística significante de p.

This study aimed to analyze the effectiveness of students' learning, immediately, 15 and 30 days after the lecture and classroom dialogic simulated nursing lab. This was a longitudinal study of quantitative approach, like before and after the experiment, which consists of an experimental method for comparing the true understanding of students' knowledge in dialogued lecture in class and in simulated nursing lab, and hypothesis a simulated classroom is more effective than lecture dialogued for the apprehension of knowledge in stroke nursing. The study population consisted of 42 students of 6th semester of undergraduate nursing, School of Nursing of the Hospital Albert Einstein, who statistically were randomized into two groups, experimental and control. Were considered as intervening variables to the process of teaching and learning: age, professional activity in health, the weighted average of grades in the first and second school years and note the progressive assessment of knowledge, 2009. Both groups were subjected to a lecture on the recognition of signs and symptoms of stroke (CVA) and assists their conduct. The control group underwent a dialogic classroom expository and experimental group to a classroom in simulated nursing lab. In the two interventions was used as a pedagogic setting the Theory of Meaningful Learning. The survey results show that the strategy of class in simulated nursing lab is more effective for the acquisition of knowledge significantly byundergraduate students in nursing, with statistical significance of p

Temperature variation in the 24 hours before the initial symptoms of stroke.

UNLABELLED: A few studies have performed to evaluate the temperature variation influences over on the stroke rates in Brazil. METHOD: 176 medical records of inpatients were analyzed after having had a stroke between 2004 and 2006 at Hospital Israelita Albert Einstein. The temperature preceding the occurrence of the symptoms was recorded, as well as the temperature 6, 12 and 24 hours before the symptoms in 6 different weather substations, closest to their houses in São Paulo. RESULTS: Strokes occurred more frequently after a variation of 3 C between 6 and 24 hours before the symptoms. There were most hospitalizations between 23-24 C. CONCLUSION: Incidence of stroke on these patients was increased after a variation of 3 masculine Celsius within 24 hours before the ictus. The temperature variations could be an important factor in the occurrence of strokes in this population.

Temperature variation in the 24 hours before the initial symptoms of stroke / Variação da temperatura nas 24 horas anteriores aos sintomas iniciais do acidente vascular cerebral

A few studies have performed to evaluate the temperature variation influences over on the stroke rates in Brazil. METHOD: 176 medical records of inpatients were analyzed after having had a stroke between 2004 and 2006 at Hospital Israelita Albert Einstein. The temperature preceding the occurrence of the symptoms was recorded, as well as the temperature 6, 12 and 24 hours before the symptoms in 6 different weather substations, closest to their houses in São Paulo. RESULTS: Strokes occurred more frequently after a variation of 3ºC between 6 and 24 hours before the symptoms. There were most hospitalizations between 23-24ºC. CONCLUSION: Incidence of stroke on these patients was increased after a variation of 3º Celsius within 24 hours before the ictus. The temperature variations could be an important factor in the occurrence of strokes in this population.

Poucos trabalhos têm estudado a variação sazonal e de temperatura em acidente vascular cerebral (AVC) no Brasil. MÉTODO: Foram analisados 176 registros de pacientes com AVC no Hospital Israelita Albert Einstein entre 2004 e 2006. Foram anotadas as temperaturas ambientes do início dos sintomas, bem como as temperaturas de 6, 12 e 24 horas antes dos sintomas, em 6 diferentes subestações metereológicas mais próximas da casa do paciente em São Paulo. RESULTADOS: Houve aumento da incidência do AVC com a variação de 3ºC entre 6 e 24 horas antes do início dos sintomas. Houve um pico de internação entre 23-24ºC. CONCLUSÃO: A variação de temperatura de 3ºC nas 24 horas que antecederam o início dos sintomas pode ter sido um fator importante na ocorrência do AVC.

Prevalence of cardiovascular risk factors among elderly Brazilians over eighty with ischemic stroke.

INTRODUCTION: An ischemic stroke is usually a catastrophic event, mostly in the elderly. Cardiovascular involvement is the leading cause of ischemic stroke in this age population and hence the knowledge about its risk factors is important for the definition of specific policies of prevention. PURPOSE: To evaluate the prevalence of cardiovascular risk factors in patients with age equal to or above 80 in a hospital population with ischemic stroke. METHOD: Retrospective study of consecutive patients diagnosed with ischemic stroke admitted to a tertiary health facility. RESULTS: From September 2004 to March 2006, 215 patients were studied. There was a female preponderance (p<0.01). Among patients over eighty, 72% had hypertension and atrial fibrillation was more common among the oldest old (p<0.01). CONCLUSION: Hypertension and atrial fibrillation should be treated aggressively in the elderly. Anticoagulants should be considered more often in these patients.

Prevalence of cardiovascular risk factors among elderly Brazilians over eighty with ischemic stroke / Prevalência de fatores de risco cardiovasculares em idosos brasileiros acima de 80 anos e com acidente cerebrovascular isquêmico

INTRODUCTION: An ischemic stroke is usually a catastrophic event, mostly in the elderly. Cardiovascular involvement is the leading cause of ischemic stroke in this age population and hence the knowledge about its risk factors is important for the definition of specific policies of prevention. PURPOSE: To evaluate the prevalence of cardiovascular risk factors in patients with age equal to or above 80 in a hospital population with ischemic stroke. METHOD: Retrospective study of consecutive patients diagnosed with ischemic stroke admitted to a tertiary health facility. RESULTS: From September 2004 to March 2006, 215 patients were studied. There was a female preponderance (p<0.01). Among patients over eighty, 72 percent had hypertension and atrial fibrillation was more common among the oldest old (p<0.01). CONCLUSION: Hypertension and atrial fibrillation should be treated aggressively in the elderly. Anticoagulants should be considered more often in these patients.

INTRODUÇÃO: Acidente cerebrovascular (AVC) isquêmico é geralmente um evento catastrófico, particularmente em idosos. Envolvimento cardiovascular é a principal causa de AVC na população desta faixa etária; dessa forma, o conhecimento acerca de seus fatores de risco é importante para a definição de políticas específicas de prevenção. OBJETIVO: Avaliar a prevalência de fatores de risco cardiovasculares em pacientes com idade igual ou superior a 80 anos numa população hospitalar tendo AVC isquêmico. MÉTODO: Estudo retrospectivo de pacientes consecutivos diagnosticados como AVC admitidos em um centro de saúde terciário. RESULTADOS: De setembro de 2004 a março de 2006, 215 pacientes foram estudados. Houve predomínio do sexo feminino (p<0,01). Entre os pacientes com mais de 80 anos, 72 por cento tinham hipertensão e fibrilação atrial foi mais comum entre os idosos em idade mais avançada (p<0,01). CONCLUSÃO: Hipertensão e fibrilação atrial devem ser tratados agressivamente em idosos. Anticoagulantes devem ser considerados mais freqüentemente nestes pacientes.