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Id: biblio-832244
Autor: Silva, Dantas, Leila Graziele; Sanchez, Heriberto Fiuza.
Título: Proposta de atendimento em saúde bucal para portadores de anemia falciforme / Proposal of oral health care for patients with sickle cell anemia in primary health care
Fonte: Rev. APS;19(4):623-629, out. 2016.
Idioma: pt.
Resumo: Dentre os tipos de doenças falciformes existentes, a anemia falciforme é a forma mais comum e grave, provocando alto grau de sofrimento aos seus portadores, que merecem atenção especial do ponto de vista médico, odontológico, genético e psicossocial. A Odontologia deve contribuir para o cuidado aos portadores de anemia falciforme. O presente trabalho objetiva elaborar orientações capazes de qualificar o atendimento odontológico de usuários portadores de doença falciforme no cotidiano da atenção primária à saúde no Sistema Único de Saúde. Trata-se de revisão narrativa da literatura, a partir de uma busca por publicações existentes no acervo de bibliotecas de faculdades, universidades e bancos de dados da Internet, como Literatura Internacional em Ciências da Saúde (MEDLINE), Biblioteca Virtual Scientific Electronic Library Online (SciELO) e Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde (LILACS), por meio do portal da Biblioteca Virtual em Saúde (BVS). Aplicados critérios de inclusão, foram selecionados 18 trabalhos científicos para leitura e análise. Para que o atendimento odontológico dos pacientes seja bem-sucedido, algumas regras devem ser seguidas, ressaltando-se anamnese criteriosa, bem como a ênfase em procedimentos preventivos e interação com equipe médica.

Among the types of sickle cell disease, sickle cell anemia is the most common and severe form, causing a high degree of distress to its sufferers. They deserve special attention from the medical, dental, genetical and psychosocial point of view. Dentistry should, through their specific actions, contribute to the care of individuals with sickle cell anemia. This study aimed to develop able guidelines to qualify the dental care of patients with sickle cell users in everyday primary care in the National Health System. This is a narrative review of literature and was carried out to from a search on existing publications in the collections of Colleges, Universities and databases of the Internet like International Literature on Health Sciences (MEDLINE), Electronic Library Online (SciELO) and Latin American and Caribbean Center library information on Health Sciences (LILACS) through the portal of the Virtual Health Library (VHL). Applied inclusion criteria were selected for reading 18 scientific papers and analysis. For the dental care of patients is successful without any injury to their health and safety professional, some rules must be followed, emphasizing careful history, emphasis on preventive procedures and interaction with medical staff.
Descritores: Assistência Odontológica
Anemia Falciforme
-Manifestações Bucais
Atenção Primária à Saúde
Assistência Integral à Saúde
Hemoglobinopatias
Tipo de Publ: Relatos de Casos
Responsável: BR378.1 - Biblioteca Central


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Texto completo SciELO Costa Rica
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Id: biblio-1088534
Autor: Calderón Brenes, Melissa; Porras Moreno, Adriana; Granados Alfaro, Paola; Cartín Sánchez, Walter.
Título: Enfermedad por hemoglobina H: primer caso de dobles heterocigotos hemoglobina Constant Spring / Sudeste Asiático en Costa Rica / Hemoglobin H disease: first case of double heterozygous hemoglobin Constant Spring / Southeast Asian in Costa Rica
Fonte: Acta méd. costarric;62(1):38-42, ene.-mar. 2020. tab, graf.
Idioma: es.
Resumo: Resumen La enfermedad por hemoglobina H es un cuadro clínico que se presenta en las alfa talasemias, las cuales son enfermedades que cursan con anemia microcítica hipocrómica, debidas principalmente a deleciones en el gen de alfaglobina, lo que disminuye la producción de la cadena de alfa globina y promueve la formación de variantes de hemoglobina. Cuando se detectan variantes de hemoglobina en las alfa talasemias, por lo general, se debe a genotipos homocigotas o dobles heterocigotas para mutaciones y deleciones del gen de alfa globina coheredadas. En este artículo se describe el primer caso en Costa Rica, de dos hermanos con enfermedad por hemoglobina H, que fenotípicamente presentaron las variantes de hemoglobina H y hemoglobina Constant Spring en el análisis electroforético de la hemoglobina, y cuyo análisis molecular del gen de alfa globina detectó tanto la deleción sudeste asiático como la mutación para hemoglobina Constant Spring, siendo diagnosticados como dobles heterocigotos por alfa talasemia (genotipo --SEA/ααCS).

Abstract Hemoglobin H disease occurs in patients with alpha thalassemia, diseases associated with hypochromic microcytic anemia, mainly due to deletions in the alpha globin gene, which decreases the production of the alpha globin chain and promotes the formation of hemoglobin variants. When hemoglobin variants are detected in alpha thalassemias it is usually due to homozygoys or doublé heterozygous genotypes, for mutations and deletions of the alpha globin gene. This article describes the first case in Costa Rica of two siblings with hemoglobin H disease, who phenotypically presented the hemoglobin H and Constant Spring hemoglobin variants in the electrophoretic analysis of the hemoglobin, and whose molecular DNA analysis of the alpha globin gene detected both, the Southeast Asian deletion and the mutation for Constant Spring Hemoglobin, being diagnosed as compound heterozygous for alpha thalassemia (genotipe --SEA/ααCS).
Descritores: Hemoglobina H
Talassemia alfa
Costa Rica
Hemoglobinopatias/genética
Triagem de Portadores Genéticos
Anemia Hipocrômica
Limites: Humanos
Feminino
Lactente
Tipo de Publ: Relatos de Casos
Responsável: CR1.1 - BINASSS - Biblioteca Nacional de Salud y Seguridad Social


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Id: biblio-1054731
Autor: Cartín Sánchez, Walter; Calderón Brenes, Melissa; Acevedo Viales, Karol.
Título: Herencia conjunta de α+-talasemia y portador de hemoglobina S / Co-inheritance of α+-thalassemia and sickle trait
Fonte: Acta méd. costarric;61(4):190-194, oct.-dic. 2019. tab, graf.
Idioma: es.
Resumo: Resumen En este reporte de caso se describe el primer paciente doble heterocigoto para alfa+-talasemia tipo -3,7 y rasgo heterocigoto por hemoglobina S en Costa Rica, diagnosticado desde su nacimiento por medio del tamizaje neonatal como heterocigoto para hemoglobina S. Luego de la detección de la hemoglobina S por tamizaje, el paciente fue referido al servicio de Hematología del Hospital Nacional de Niños para su seguimiento, en donde se observa hemograma con índices y morfología de glóbulos rojos sugestivos de alfa talasemia, con presentación de electroforesis de hemoglobina con patrón AS cuya expresión relativa de HbS era menor de lo esperado, lo que motivó a efectuar estudio molecular del gen de alfa globina, que confirmó el diagnóstico de alfa talasemia con deleción heterocigota de tipo -3,7 en herencia conjunta con la heterocigosis de hemoglobina S.

Abstract In this case report we describe the first patient compound heterozygous for type -3.7 alpha+ thalassemia and sickle cell trait in Costa Rica, who was diagnosed from birth by neonatal screening as heterozygous for hemoglobin S. After detection of hemoglobin S by screening, the patient was referred to the Hematology service of the National Children`s Hospital for follow-up, where hemogram with indexes and morphology of red blood cells suggestive of alpha thalassemia is observed, presenting hemoglobin electrophoresis with AS pattern whose relative expression of hemoglobin S was lower tan expected, which led to a molecular study of the alpha globin gene confirming the diagnosis of alpha thalassemia with heretozygous deletion of type -3.7, in co-inheritance with hemoglobin S heterozygosis.
Descritores: Hemoglobina A
Hemoglobina Falciforme
Triagem Neonatal
Talassemia alfa
Costa Rica
Hemoglobinopatias
Triagem de Portadores Genéticos
Limites: Humanos
Masculino
Recém-Nascido
Tipo de Publ: Relatos de Casos
Responsável: CR1.1 - BINASSS - Biblioteca Nacional de Salud y Seguridad Social


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Id: biblio-1054725
Autor: Solís Solís, Melissa.
Título: Detección de variantes de hemoglobina en pacientes examinados por hemoglobina A1c / Detection of hemoglobin variants in patients tested for Hemoglobin A1c
Fonte: Acta méd. costarric;61(4):160-165, oct.-dic. 2019. tab.
Idioma: es.
Resumo: Resumen Justificación: La genética en las variantes de hemoglobina en Costa Rica es resultado del cruce de caracteres autóctonos indígenas con poblaciones inmigrantes de europeos, africanos y otros, desde el periodo de la Conquista, que contribuyeron a la mezcla genética presente en la población de Costa Rica. Las hemoglobinopatías mayormente distribuidas en la población humana son: hemoglobina S, C, D y E, siendo la hemoglobina S la más frecuente y la que presenta consecuencias más graves. Objetivo: Detectar variantes de hemoglobina en pacientes examinados por hemoglobina A1c, en la sección de Química Clínica del laboratorio de la Clínica de Filadelfia de la Caja Costarricense de Seguro Social, en el Cantón de Carrillo, Guanacaste, Costa Rica, durante el período de enero a octubre de 2018. Métodos: Se analizaron 2775 muestras sanguíneas de pacientes de los nueve equipos básicos de salud que conforman el Área de Salud de Carrillo, y que además requieren estudio por hemoglobina glicosilada en el período de enero a octubre de 2018. El análisis se realizó en el Laboratorio del Área de Salud de Carrillo. Las muestras fueron recolectadas en tubos vacutainer con EDTA y analizadas en el equipo automatizado TOSOH HLC-723GX, utilizando la metodología HPLC cromatografía de intercambio catiónico con la separación y cuantificación de las diferentes fracciones de hemoglobina. Los datos se analizaron en plantilla de Microsoft Excel. Resultados: En 2775 pacientes examinados por hemoglobina A1c, 167 (6,0 %) fueron portadores de variantes de hemoglobina, con una frecuencia de 1/17, en donde el 97 % correspondió a heterocigotos para hemoglobina un 3% a heterocigotos para hemoglobina C y ninguno para la variante D. La presencia de variantes se observó en los 9 equipos básicos de atención integral en salud del área. La distribución de portadores por equipo básico de atención en el Área de Salud de Carrillo varió de un 4,0 % a un 9,3 %. Conclusiones: Un 6 % de las muestras analizadas presentó variantes de hemoglobina, siendo la hemoglobina S la predominante. Esta característica presente en la población del cantón de Carrillo merece atención a nivel de salud pública; la metodología existente a nivel de área permite estudiar a un grupo de población (costo efectivo) en riesgo que precisa vigilancia y asesoramiento genético, con el fin de concienciar a la población respecto al problema, reducir la incidencia de la enfermedad y prolongar la supervivencia de los afectados.

Abstract Background: The genetics in hemoglobin variants in Costa Rica are a result of the crossing of autochthonous indigenous characters with European, African and other immigrant populations. All of these contributed to the genetic mixture that is currently present in Costa Rica's population. The most distributed hemoglobinopathies in the human population are: hemoglobin S, C, D, and E, with hemoglobin S being the most frequent and having the most serious consequences. Objective: Detection of hemoglobin variants in patients who were examined for hemoglobin A1c in the Clinical Chemistry section of the Filadelfia Clinic Laboratory, from January to October 2018. The clinic is in Canton of Carrillo, Guanacaste (Costa Rica), and it is part of the social security system. Methods: 2775 blood samples and their respective data were analyzed from patients of the nine basic health teams that make up the Carrillo Health Area and required a study for glycosylated hemoglobin from January to October 2018. The analysis was performed in the Carrillo Health Area Laboratory. The samples were collected in vacutainer tubes containing EDTA and analyzed in the TOSOH HLC-723GX automated equipment, using the HPLC cation exchange chromatography methodology with the separation and quantification of the different hemoglobin fractions. The data was then analyzed in a Microsoft Excel template. Results: In the 2775 patients examined for hemoglobin A1c, 167 (6.0%) were found to be carriers of hemoglobin variants, with a frequency of 1/17, where 97% corresponded to heterozygotes for hemoglobin S, 3% heterozygous for hemoglobin C, and none for variant D. The presence of variants was observed in the 9 basic teams of integral health care of the area, and the distribution varied from 4% to 9,3% between them. Conclusions: A total of 6% of the samples analyzed showed a hemoglobin variant, being hemoglobin S the most predominant. This characteristic present in the population of Canton of Carrillo deserves attention at the public health level. The existing methodology at the level area allows professionals to study a population group at risk that deserves surveillance and genetic counseling, in order to raise awareness about the problem, reduce the incidence of the disease, and prolong the survival of those affected by it.
Descritores: Hemoglobinas/genética
Costa Rica
Hemoglobinopatias
Anemia Falciforme
Limites: Humanos
Tipo de Publ: Estudo Observacional
Responsável: CR1.1 - BINASSS - Biblioteca Nacional de Salud y Seguridad Social


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Araujo, Joao Targino de
Id: biblio-1068648
Autor: Zago, Marco Antonio, coord; Kerbauy, José; Machado, Paulo E. Abreu; Araújo, Joäo Targino de; Saad, Sara T. O; Fabron Júnior, Antonio.
Título: Programa estadual de hemoglobinopatias / Hemoglobinopathies state program.
Fonte: s.l; Säo Paulo (Estado). Secretaria da Saúde; s.d. 52 p. tab.
Idioma: pt.
Descritores: Hemoglobinopatias
Programas Médicos Regionais
-Brasil
Responsável: BR91.2 - Centro de Documentação
BR91.2/935/Cx.P7


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Id: lil-47245
Autor: Naoum, Paulo Cesar.
Título: Diagnóstico das hemoglobinopatias / Diagnosis of the hemoglobinopathies.
Fonte: s.l; Sarvier; 1987. 242 p. ilus, tab.
Idioma: pt.
Descritores: Hemoglobinopatias/diagnóstico
Limites: Humanos
Responsável: BR1.1 - BIREME
BR1.1/1151.00; BR66.1; WH190:N171D 1987; BR26.1; 616.15-071 N194d; BR79.1; WH190, N194d


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Id: lil-582748
Autor: Lervolino, Luciana Garcia; Baldin, Paulo Eduardo Almeida; Picado, Silvia Miguéis; Calil, Karina Barreto; Viel, Ana Amélia; Campos, Luiz Alexandre Freixo.
Título: Prevalence of sickle cell disease and sickle cell trait in national neonatal screening studies
Fonte: Rev. bras. hematol. hemoter;33(1):49-54, Feb. 2011. ilus, tab.
Idioma: en.
Resumo: Sickle cell anemia is the best known hereditary blood disorder; there are serious complications associated with the condition. Diagnosis and early intervention reduce morbidity and mortality. These benefits have resulted in the widespread use of newborn screening education programs. In Brazil, the National Neonatal Screening Program established by decree 822/01 included sickle cell disease in the list of diseases tested in the so called "heel prick test". Since then, national studies of the results of this program have been periodically published. To review the literature in order to assess the prevalence of sickle cell trait and sickle cell anemia from data of national neonatal screening studies on hemoglobin S (Hb S). A bibliographic review was carried out using the key words: sickle cell anemia & hemoglobinopathies & neonatal screening & Brazil in the Bireme and SciELO databases. Original Brazilian studies presenting data on prevalence of the sickle cell trait (Hb AS) and sickle cell anemia (Hb SS) based on neonatal screening for Hb S were analysed. Twelve original national studies were identified with prevalences varying from 1.1 percent to 9.8 percent for the sickle cell trait and from 0.8 to 60 per 100,000 live births for sickle cell disease in different Brazilian regions. Conclusion: Neonatal screening for Hb S is a very useful method to assess the prevalence of sickle cell trait (Hb AS) and sickle cell anemia (Hb SS) in Brazil. There is a heterogeneous distribution of this disease with the highest prevalence in the northeastern region and the lowest prevalence in the south.
Descritores: Triagem Neonatal
Hemoglobinopatias
Anemia Falciforme
Tipo de Publ: Revisão
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: biblio-1024914
Autor: Tonon, Tássia; Sisti, Elisa; Nalin, Tatiéle; Schwartz, Ida Vanessa Doederlein.
Título: Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul
Fonte: Clin. biomed. res;38(2):123-127, 2018.
Idioma: en.
Resumo: Introduction: Newborn screening allows the screening of diseases that are still in the asymptomatic period and whose early diagnosis and treatment are associated with reduced infant morbidity and mortality. The aim of this study was to evaluate the public National Newborn Screening Program in the municipality of Carazinho, state of Rio Grande do Sul (RS), Brazil. Methods: This was a population-based, retrospective, descriptive study. We collected and transcribed data from a database of the Carazinho municipal laboratory, which is affiliated with the referral center for newborn screening in RS. The records of all individuals undergoing newborn screening from 2005 to 2010 were reviewed, and information was collected on the program coverage, time elapsed between birth and screening (first collection), and test results. Results: The program had a coverage of 75.5%. One suspected case of phenylketonuria, three suspected cases of congenital hypothyroidism and no suspected cases of hemoglobinopathy were identified. In addition, there were 18 positive results for hemoglobin S heterozygosity, five for hemoglobin D heterozygosity, two for hemoglobin C heterozygosity, and one for a rare variant hemoglobin. When analyzing the newborn's age at the time of blood collection, it was observed that 63.1% were within the recommended age range. Conclusions: Our findings suggest the need for optimization of public newborn screening in the evaluated municipality. The strategies to be adopted should include education of the population and especially of managers and health professionals about the importance of newborn screening. (AU)
Descritores: Fenilcetonúrias/epidemiologia
Triagem Neonatal/métodos
Hemoglobinopatias/epidemiologia
-Saúde Pública/estatística & dados numéricos
Limites: Humanos
Recém-Nascido
Tipo de Publ: Estudo de Avaliação
Responsável: BR18.1 - Biblioteca FAMED/HCPA


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Id: lil-601015
Autor: Moreira, Raphaela Martins Muniz; Estevão, Isabeth da Fonseca; Melo, Débora Gusmão.
Título: Critical analysis of the neonatal screening program for hemoglobinopathies
Fonte: Rev. bras. hematol. hemoter;33(4):318-320, 2011. tab.
Idioma: en.
Descritores: Triagem Neonatal
Hemoglobinopatias
-Criança
Limites: Humanos
Masculino
Feminino
Tipo de Publ: Carta
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-654974
Autor: Ferreira, Tatiana Dela-Sávia; Freire, Adriana Sousa; Silveira-Lacerda, Elisângela de Paula; García-Zapata, Marco Túlio Antônio.
Título: A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures
Fonte: Rev. bras. hematol. hemoter;34(5):339-344, 2012. ilus, tab.
Idioma: en.
Resumo: BACKGROUND: The high frequency of hemoglobinopathies in Brazil constitutes a public health problem and thus educational and preventive measures are necessary to reduce the incidence. Genetic guidance, a modality of genetic counseling, and family screening are measures that can assist in reproductive decisions and mitigate clinical, psychological and social problems of families with these disorders. OBJETIVE: The objective of the current study was to evaluate the effectiveness of educational and preventive measures for hemoglobinopathies using genetic guidance and laboratory screening of families. METHODS: The diagnoses of patients with hemoglobinopathies were confirmed and then the level of knowledge about their disease was evaluated and genetic guidance was provided. Three months later, the level of assimilated information of these patients was evaluated. In addition, laboratory diagnosis of family members was carried out. RESULTS: Diagnosis of sickle cell anemia was confirmed for most patients. Moreover, the majority of the patients who had a low level of knowledge before genetic guidance (68.8%) demonstrated a higher level of assimilated information after the process (81.8%). Almost 70% of the family members had hemoglobin changes and some had hemoglobinopathies (2.6%). They were duly informed about the results of the examinations, which made it possible to investigate further. CONCLUSION: Genetic guidance and family screening were effective preventive and educational measures that improved the quality of life of patients, preventing complications and sequels and allowed the referral of those who may transmit altered genes for clinical diagnosis and to genetic counseling services.
Descritores: Prevenção Primária
Qualidade de Vida
Aconselhamento Genético
Hemoglobinopatias/diagnóstico
Limites: Humanos
Masculino
Feminino
Recém-Nascido
Lactente
Pré-Escolar
Criança
Adolescente
Adulto
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM



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