Anemia diseritropoyética congénita tipo I: una mirada actualizada de sus bases moleculares, diagnóstico y tratamiento / Congenital dyserythropoietic anemia type I: an updated review about its molecular bases, diagnosis and treatment

Introducción: Las anemias diseritropoyéticas congénitas constituyen un grupo de trastornos hereditarios caracterizados por anemia refractaria, eritropoyesis ineficaz y alteraciones morfológicas de los eritroblastos. La anemia diseritropoyética congénita tipo I es la más frecuente, no obstante, constituye una rara enfermedad con particularidades morfológicas y moleculares. Objetivo: Analizar los aspectos más novedosos en cuanto a la patogenia molecular, el diagnóstico genético y el tratamiento de la anemia diseritropoyética congénita tipo I. Métodos: Se realizó una revisión de la literatura, en inglés y español. Se utilizaron motores de búsqueda como Google académico y Pubmed que permitió el acceso a artículos actualizados del tema. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: La anemia diseritropoyética congénita tipo I es una enfermedad hereditaria autosómica recesiva. Se caracteriza por anemia de grado variable, reticulocitopenia, alteraciones morfológicas de la serie roja en la lámina periférica y un número elevado de eritroblastos binucleados conectados por puentes internucleares en el aspirado de médula ósea. Se han identificado múltiples alteraciones moleculares que involucran fundamentalmente a los genes CDAN1 y C15orf41. Las proteínas codificadas por estos genes participan en proceso vitales como el ciclo celular, la reparación del ADN y la transcripción de ARN. Conclusiones: El estudio de las bases moleculares de la anemia diseritropoyética congénita tipo I ha cambiado la perspectiva en el diagnóstico de esta enfermedad. Los protocolos de tratamiento son similares a otras anemias hemolíticas hereditarias aunque se destaca el uso del Interferón-α(AU)

Introduction: Congenital dyserythropoietic anemias belong to a group of hereditary disorders characterized by refractory anemia, ineffective erythropoiesis and morphological alterations of erythroblasts. Congenital dyserythropoietic anemia type I is the most frequent; however, it is a rare disease with morphological and molecular characteristics. Objective: To analyze the most updated aspects regarding molecular pathogenesis, genetic diagnosis and treatment of congenital dyserythropoietic anemia type I. Methods: A review of the literature in English and Spanish was carried out. Search engines such as Google Scholar and Pubmed were used, which allowed access to updated articles on the subject. An analysis and summary of the revised bibliography was carried out. Information analysis and synthesis: Congenital dyserythropoietic anemia type I is an autosomal recessive hereditary disease. It is characterized by anemia of variable degree, reticulocytopenia, morphological alterations of the red series in the peripheral lamina, and high number of binucleated erythroblasts connected by internuclear bridges in the bone marrow aspirate. Multiple molecular alterations have been identified, mainly involving the CDAN1 and C15orf41 genes. The proteins encoded by these genes participate in vital processes, such as the cell cycle, DNA repair, and RNA transcription. Conclusions: The study of the molecular bases of congenital dyserythropoietic anemia type I has changed the perspective concerning the diagnosis of this disease. Treatment protocols are similar to other hereditary hemolytic anemias, although the use of Interferon-α stands out(AU)

Anemias hemolíticas hereditarias por defectos en la síntesis de globina / Hereditary hemolytic anemias due to defective globin synthesis

Introducción: Los defectos genéticos en la molécula de hemoglobina se dividen en aquellos que tienen una tasa reducida de producción de una o más cadenas de globina, las talasemias; y en los que se producen cambios estructurales que conducen a inestabilidad o transporte anormal de oxígeno. Objetivo: Explicar los diferentes mecanismos por los cuales ocurren las talasemias y otras alteraciones en la síntesis de las cadenas de globina, así como las características moleculares, fisiopatogénicas y los cambios hematológicos. Métodos: Se realizó una revisión de la literatura, en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico de artículos publicados en los últimos 10 años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Las talasemias son un grupo heterogéneo de defectos genéticos en la síntesis de hemoglobina, que causa una disminución en la tasa de producción de una o más cadenas de la molécula. De acuerdo a la cadena de globina que presenta el defecto se dividen en α-β-, δβ- o γδβ-talasemias. Conclusiones: Las talasemias y las hemoglobinopatías son las enfermedades hemolíticas hereditarias más comunes en muchas partes del mundo, caracterizadas por complejas interacciones entre anemia, eritropoyesis ineficaz y alteraciones del metabolismo del hierro(AU)

Introduction: Genetic disorders in the hemoglobin molecule are divided into those that have a reduced rate of production of one or more globin chains, thalassemias; and those in which structural changes occur that lead to instability or abnormal oxygen transport. Objective: To explain the different mechanisms by which thalassemias and other alterations in the synthesis of globin chains occur, as well as molecular, physiopathogenic and hematological changes. Methods: A review of the literature in English and Spanish was carried out through the PubMed website and the Google Scholar search engine, searching for articles published in the last ten years. The revised bibliography was analyzed and summarized. Information analysis and synthesis: Thalassemias make up a heterogeneous group of genetic defects in the synthesis of hemoglobin, which causes a decrease in the rate of production of one or more chains of the molecule. According to the globin chain that presents the defect, they are divided into α-β-, δβ- or γδβ-thalassemias. Conclusions: Thalassemias and hemoglobinopathies are the most common hereditary hemolytic diseases in many parts of the world. They are characterized by complex interactions between anemia, ineffective erythropoiesis, and alterations in iron metabolism(AU)

Riesgo preconcepcional genético como herramienta de prevención en la Atención Materno Infantil / Preconception genetic risk as a prevention tool in mother and child care

Introducción: El primer programa de prevención para las enfermedades genéticas y defectos congénitos en Cuba se logra cuando el programa de Atención Materno Infantil alcanza el máximo de condiciones en 1981. Objetivo: Incrementar los conocimientos sobre el riesgo preconcepcional genético en el personal de enfermería Métodos: Se realizó un estudio cuasi experimental de tipo intervención educativa en enfermería en el Policlínico Universitario José Martí Pérez sobre la identificación de los factores de riesgo preconcepcional genético, en Santiago de Cuba, en el segundo semestre del 2017. El universo estuvo constituido por la plantilla física de la institución (150 enfermeras), seleccionando una muestra por conveniencia de 34 enfermeras en el Grupo Básico de Trabajo # I (GBT); se procedió a la aplicación del instrumento de evaluación para identificar las necesidades de aprendizaje sobre los riesgos genéticos, diseñando y aplicando un Programa de Capacitación, evaluando antes y después de la intervención. Resultados: Predominaron las enfermeras generales de más de 50 años con conocimientos inadecuados, antes de la intervención, sobre los elementos que influyen, el momento en que acontece el riesgo preconcepcional genético, así como, los conocimientos sobre el riesgo prenatal, en el recién nacido y en las enfermedades comunes. Conclusiones: Luego de aplicada la estrategia de intervención se lograron elevar los conocimientos sobre el riesgo preconcepcional genético en algunos miembros de la muestra, que incorporaron lo aprendido a las diferentes actividades y procesos asistenciales en la comunidad(AU)

Introduction: The first Cuban program for prevention of genetic diseases and defects was started when the mother and child care program achieved an optimal status in the year 1981. Objective: Broaden knowledge about preconception genetic risk among the nursing personnel. Methods: A quasi-experimental study was conducted based on an educational intervention in nursing at José Martí Pérez University Polyclinic. The study aimed to identify preconception genetic risks in Santiago de Cuba during the second semester of 2017. The study universe was the physical payroll of the institution (150 nurses), of whom 34 from Basic Work Team (BWT) No. 1 were selected by convenience sampling. The evaluation tool was applied to identify learning gaps related to genetic risks. Next, a training program was designed and applied. Participants in the study were evaluated before and after the intervention. Results: A predominance was found of general nurses of over 50 years' experience with poor pre-intervention knowledge about the factors involved in preconception genetic risks and the moment when such risks occur, or about prenatal and newborn risks and common diseases. Conclusions: Upon application of the intervention strategy, knowledge about preconception genetic risk was broadened among some members of the sample, who incorporated the newly-acquired information into the various community care activities and processes(AU)

Doenças genéticas raras com abordagem qualitativa: revisão integrativa da literatura nacional e internacional / A qualitative approach to rare genetic diseases: an integrative review of the national and international literature

Resumo Atualmente, há entre seis e oito mil adoecimentos catalogados por doenças raras, sendo que 80% são de origem genética e entre os estudos sobressaem os de natureza quantitativa e biomédica. Objetivou-se identificar e descrever as características dos estudos científicos, no Brasil e internacionalmente, com abordagem qualitativa, acerca das doenças genéticas raras publicados em bases indexadas na área da saúde e das ciências sociais. Utilizaram-se as bases de dados Scielo, Lilacs, Medline, PubMed, BDENF, Web of Science, Scopus e CINAHL, com os descritores: "Qualitative Research" e "Rare Disease", entre 2013-2018. Foram selecionados 171 artigos, classificados por ano, país, idioma, tipo de doença rara, estratégia de coleta de dados, área de conhecimento e tema. As produções revelam a pertinência dos estudos qualitativos sobre doença genética rara no seu potencial para subsidiar a organização, a tomada de decisões e a formação em saúde, de maneira que respondam às necessidades sociais e individuais da comunidade. É importante, todavia, desenvolver mais estudos, principalmente brasileiros, que abordem as condições genéticas raras, relevando as vivências e os afetamentos nas interações pessoais, familiares, profissionais e organizacionais perante os modos próprios e efetivos de cuidar.

Abstract There are currently between six and eight thousand illnesses classified as rare diseases, 80% of which are of genetic origin and among the studies those of a quantitative and biomedical nature stand out. The objective of this study was to identify and describe the characteristics of scientific studies in Brazil and worldwide using a qualitative approach on rare genetic diseases published in indexed databases in the area of health and social sciences. The Scielo, Lilacs, Medline, PubMed, BDENF, Web of Science, Scopus and CINAHL databases were researched between 2013-2018 using the key words "Qualitative Research" and "Rare Disease." A total of 171 articles, classified by year, country, language, rare disease type, data collection strategy, knowledge area and theme were selected. The texts reveal the relevance of qualitative studies on rare genetic diseases in their ability to support organization, decision-making and health training in a way that responds to the social and individual needs of the community. It is important, however, to conduct further studies, especially within Brazil, that address rare genetic conditions, revealing the experiences and how they affect the personal, family, professional and organizational interactions in terms of the proper and effective modes of care.

Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração / Family Therapeutic Trajectories: rare hereditary diseases involving long-term suffering

Resumo Este artigo analisa elementos comuns na trajetória de pessoas afetadas por doenças raras hereditárias no Brasil, tendo por cerne a busca por diagnóstico e tratamento, e a reprodutibilidade da família. Classificam-se como "raras" as doenças que afetam 65 pessoas a cada 100 mil. São condições geralmente crônicas e degenerativas, muitas delas sem cura ou tratamento efetivo. Cerca de 80% das doenças raras têm origem genética e são hereditárias. Este dado traz implicações importantes no que diz respeito às políticas de atenção à saúde da família, à reprodução e ao cuidado para condições clínicas que, em alguns casos, atravessam várias gerações. Para análise dos dados, articulam-se dois eixos teóricos: os estudos de família e parentesco e as análises sobre os sofrimentos de longa duração. A pesquisa desenvolveu-se junto a pessoas afetadas por doenças raras hereditárias e seus familiares, nos cenários políticos nos quais esses atores transitam, como associações de pacientes, congressos científicos e audiências públicas. Evidencia-se a necessidade de construção de uma pauta contínua sobre as doenças raras no Brasil, capaz de promover de fato o acesso universal e integral das pessoas afetadas ao sistema público de saúde, e buscar soluções para minorar sofrimentos que ameaçam a própria continuidade da família.

Abstract This article analyzes common elements in the trajectory of people affected by rare hereditary diseases in Brazil, focusing on the search for diagnosis and treatment, and the reproducibility in the family. Rare diseases affect 65 people in every 100 thousand. These are usually chronic and degenerative conditions, many incurable or without effective treatment. About 80% of rare diseases are genetic in origin and can be inherited. This fact has important implications for family health care policies, reproduction, and care for clinical conditions that, in some cases, spanned generations. To analyze the data, two theoretical axes are articulated: family and kinship studies, and analyzes of long-term suffering. The research investigated people affected by rare hereditary diseases and their families, in the political scenarios in which these actors circulate, such as patient associations, scientific congresses and public hearings. There is evidence of the need to build a continuous agenda on rare diseases in Brazil capable of effectively promoting universal and integral access of the affected persons to the public health system, and seeking for solutions to alleviate suffering that threatens the very continuity of the family.

Impacto de la enfermedad genética en los ingresos hospitalarios en un Servicio de Pediatría / Prevalence of genetic diseases in admissions to a tertiary care hospital pediatric service

Background: With the epidemiological changes, the role of genetic factors as a cause of morbidity and mortality is increasing, changing disease patterns of patients admitted to pediatric hospitals. Aim: To describe the prevalence of genetic diseases (GD) in patients admitted to a tertiary-care hospital Pediatric Service. Material and Methods: The clinical records of consecutive admissions to a Pediatric Service of a clinical hospital in 2011 were reviewed. Two categories were assigned: with GD and without GD. Both groups were compared according to days of hospitalization, type of admission, readmissions and mortality. Results: We reviewed the 98.1% of the 1,781 total annual admissions (1,459 cases), 322 of them were readmissions (187 cases). The mean age at admission was 54.8 ± 54 months and 55% were male. The mean hospitalization length was 4.9 ± 10 days. Of total admissions and individual cases, 52.7% (938/1,781) and 48% (705/1,459) were cases with GD, respectively. Within this group, 85% (597/705) were sub-categorized as having a significant genetic base. The differences between gender, age average income and hospital mortality were not significant between the two categories. Readmissions were more common for GD than for patients without GD (Odds ratio (OR): 2.6, confidence intervals (CI): 1.9-3.6). Average hospital stay was 27% higher among GD patients (p < 0.01). Conclusions: Our findings confirm the high prevalence of GD in pediatric hospitals (52.7%), with a higher risk for readmission in cases with GD compared with those without GD.

Clinical genetics and public policies: how should rare diseases be managed?

The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting that Brazil is undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of "orphan drugs" and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil / Hereditary diseases and congenital defects diagnosed in water buffalo (Bubalus bubalis) in Brazil

A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

É realizada uma revisão sobre as doenças hereditárias e/ou defeitos congênitos diagnosticados em búfalos no Brasil. São descritos brevemente os aspectos epidemiológicos, clínicos e patológicos de enfermidades hereditárias ou provavelmente hereditárias já observadas no Brasil, como dermatose mecanobolhosa, artrogripose, miotomia, hidranencefalia, condrodisplasia e albinismo; e dos defeitos congênitos que não tem uma causa ainda comprovada como megaesôfago, defeitos cardíacos (persistência do ducto arterioso), dermatosparaxia, defeitos no sistema reprodutivo e outros defeitos. Observou-se que as raças mais afetadas por enfermidades de natureza genética são as que têm origem no Continente Asiático (Murrah e Jafarabadi), provavelmente em consequência da consanguinidade existente nos rebanhos devido a proibição da importação de reprodutores, sêmen e embriões daquele continente. O diagnóstico de duas dessas doenças, artrogripose e miotomia hereditária no Rio Grande do Sul e no Pará, demonstra que os genes indesejáveis estão disseminados na população de búfalos no país e que a identificação desses genes por meio de técnicas moleculares associada à criação desta espécie com maior controle sanitário, reprodutivo e zootécnico pode minimizar os prejuízos decorrentes dessas enfermidades à bubalinocultura.

Estimación de prevalencia de niños con enfermedades limitantes de la vida en un hospital pediátrico de alta complejidad / Prevalence of patients with life-limiting conditions in a high complexity pediatric hospital

En Chile fallecen aproximadamente 800 niños menores de 15 años por diversas causas, entre ellas, por enfermedades sin tratamiento curativo. La Sociedad Chilena de Pediatría creó el Comité de Niños y Adolescentes con Necesidades Especiales en Atención de Salud (NANEAS), que entregó las pautas para una atención integral de estos pacientes, incluyendo los cuidados paliativos (CP). Resulta indispensable conocer el número y características de los pacientes que padecen enfermedades limitantes de la vida (ELV) para elaborar programas de atención que prioricen por un cuidado ambulatorio bajo la supervisión de equipos multidisciplinarios. Objetivo: Estimar la prevalencia de pacientes con ELV en un hospital pediátrico de alta complejidad. Pacientes y método: Se revisaron los egresos de las Unidades de Pediatría General y Unidad de Paciente Crítico del Hospital Roberto del Río, durante el 2009 y 2010. Se seleccionaron los casos con diagnósticos de ELV según CIE-10, registrando datos demográficos y clasificándolos según los grupos de la ACT para ELV. Se excluyeron pacientes con cáncer avanzado. Resultados: De 6585 pacientes egresados, 190 tenían diagnóstico ELV (2.89 por ciento). Los lactantes fueron el grupo más numeroso (33 por ciento). El 51,6 por ciento de los pacientes pertenecían al grupo 4 (parálisis cerebral severa, genopatías complejas, TEC con secuelas graves) y todos fueron atendidos por 3 o más especialistas. Conclusión: Los niños con ELV constituyen un grupo emergente entre los pacientes pediátricos hospitalizados, demandando una atención de alta complejidad. Es un desafío implementar políticas públicas que optimicen su manejo y permitan planificar unidades especializadas para su atención, incluyendo los CP.

In Chile, approximately 800 children under the age of 15 years die from a variety of causes, including life-limiting conditions (LLC). The Chilean Society of Pediatrics established a Committee on Children and Adolescents with Special Health Care Needs (NANEAS), which established guidelines for comprehensive care of these patients, including palliative care (PC). It is essential to know the number and characteristics of patients with LLC, in order to develop programs for outpatient care under the supervision of multidisciplinary teams. Objective: To estimate the prevalence of patients with LLC in a high complexity pediatric hospital. Patients and methods: We reviewed the discharges from General Pediatric Units and the Critical Patient Unit at the Roberto del Rio Hospital during 2009 and 2010. We selected patients with LLC according to ICD-10. Their demographic characteristics were registered and classified into the four ACT groups. Patients with advanced cancer were excluded. Results: Of 6585 patients discharged, 190 were diagnosed as LLC (2.89 percent). Infants were the largest group (33 percent). 51.6 percent of patients belonged to group 4 (severe cerebral palsy, genopathies, serious sequelae of traumatic brain injury) and all were attended by at least three specialists. Conclusion: Children with LLC are an emerging group among hospitalized pediatric patients and they are demanding attention of high complexity. It is a challenge to design and implement public policies that can optimize health care for these patients, and facilitate the establishement of specialized units for this purpose, including PC.

Características epidemiológicas de la población con enfermedades genéticas en el Policlínico Norte, Ciego de Ávila / Epidemiological characteristics of population with genetic diseases in the Northern area Polyclinic, Ciego de Ávila

El Policlínico Norte del municipio Ciego de Ávila constituye la mayor área de salud de la provincia, en ella se realizó un estudio observacional descriptivo retrospectivo con el objetivo de conocer algunas características epidemiológicas de la población afectada con algún tipo de enfermedad genética, entre noviembre de 2010 y abril del 2011. La muestra estuvo constituida por un total de 163 casos, con el diagnóstico de alguna de estas alteraciones, consignado en el registro estadístico del servicio de genética del área, se encontró una prevalencia para las enfermedades genéticas de 32,29/10000 habitantes, es el grupo de enfermedades monogénicas más frecuente, dentro de este grupo predominó la neurofibromatosis tipo 1 con un total de 15 casos para un 23,07 por ciento; el segundo grupo más frecuente fue el multifactorial donde predominaron las cardiopatías congénitas con 36 casos para un 63,15 por ciento; el tercer grupo fueron las cromosómicas donde predominó el Síndrome Down con 35 casos para un 85.36 por ciento. El comportamiento epidemiológico de las enfermedades genéticas en el área ha variado en la última década, la tasa de prevalencia ha tenido un franco aumento de forma general, fenómeno que posiblemente se debe a variables ambientales como programas de intervención.

The North Policlinic of Ciego de Avila municipality constitutes the biggest health area in the province. A retrospective descriptive observational study was carried out with the objective of knowing the epidemiological characteristics of the affected population with some type of genetic illness, between November 2010 and April 2011. The sample was constituted by a total of 163 cases, with the diagnose of some of these alterations, consigned in the statistical registration of genetic services of the area, finding a prevalence for the genetic illnesses of 32,29/10000 inhabitants, it is the monogenic diseases group the most frequent and within this group predominated the neurofibromatosis type 1 with 15 cases for a 23,07 percent, the multifactorial was the the most frequent second group of disease where the congenital cardiopathies prevailed with 36 cases for a 63,15 percent; and the third group was the chromosomic ones where Down syndrome prevailed with 35 cases for a 85.36 percent, the epidemiologic behavior of the genetic disease in the area has varied in the last decade, the prevalence rate has had a franc increase, phenomenon that is possibly due to environmental variables as intervention programs.

Atendimento ambulatorial em genética em um hospital universitário do RS / Outpatient care in genetics in a university hospital in RS

Introdução: A prevalência de defeitos congênitos e doenças genéticas na América Latina é similar ao resto do mundo e um dos grandes problemas é a ausência de dados epidemiológicos. No Brasil e no restante da América Latina, os serviços de genética estão concentrados em cidades grandes e, em sua maioria, são financiados pelo sistema público. O presente estudo teve por objetivos determinar a frequência das doenças genéticas no ambulatório da FAMED-FURG, avaliar os motivos de referência ao serviço e verificar a procedência dos pacientes encaminhados e os exames necessários para sua investigação. Métodos: Foi elaborada uma ficha padronizada contendo variáveis demográficas e sobre o atendimento, preenchida ao final das consultas. Os dados obtidos foram analisados no programa Epi-Info. Resultados: No período do estudo, (janeiro de 2001 a dezembro de 2003 e março de 2006 a dezembro 2010) 305 pacientes foram avaliados. A maioria dos pacientes era procedente de Rio Grande e cerca de 50% deles foi encaminhado por apresentar aparência sindrômica, atraso no desenvolvimento ou alterações na triagem neonatal. O cariótipo foi solicitado para mais de 30% dos pacientes e a investigação para erros inatos do metabolismo, para 10%. As doenças de etiologia gênica foram as mais frequentes, seguidas das anomalias cromossômicas. Mais de 20% ainda permanecem em investigação, a maioria destes com retardo mental. Conclusão: O atendimento ambulatorial de genética em Rio Grande evitou o deslocamento de pacientes e seus acompanhantes, facilitando o monitoramento e reduzindo custos para o SUS.

Introduction: The prevalence of birth defects and genetic diseases in Latin America is similar to the rest of the world, and one of the major problems is the lack of epidemiological data. In Brazil and the rest of Latin America, genetic services are concentrated in large cities and are mostly funded by the public system. The present study was designed to determine the frequency of genetic diseases in the outpatient care unit of FAMED-FURG, to assess the reasons for reference to the service, and to check the origin of the referred patients and the exams required for their assessment. Methods: We developed a standardized form containing demographic and care-related information, which was completed at the end of the visits. Data were analyzed using Epi-Info. Results: During the study period (January 2001 to December 2003 and March 2006 to December 2010), 305 patients were evaluated. Most patients were originally from the city of Rio Grande, and about 50% of them were referred because of syndromic appearance, developmental delay, or changes in neonatal screening. The karyotype was requested from more than 30% of the patients, and research for inborn errors of metabolism from 10%. Disorders of genic etiology were the most frequent, followed by chromosomal abnormalities. More than 20% are still under investigation, most of those with mental retardation. Conclusion: The genetics outpatient service in Rio Grande avoided the transfer of patients and their companions, thus facilitating their monitoring and reducing costs to the SUS.

Erros inatos do metabolismo no Hospital das Clínicas de Ribeirão Preto: um legado de múltiplas especialidades / Inborn Errors of Metabolism - a legacy of multiple specialties

Erros inatos do metabolismo (EIM) são doenças genéticas decorrentes, em sua maioria, de deficiências enzimáticas que levam a graves distúrbios metabólicos, e que vem sendo cada vez mais diagnosticados. No presente texto relata-se um histórico sobre a evolução da abordagem diagnóstica e tratamento de EIM no HCFMRP-USP.Na FMRP-USP os EIM vêm sendo objeto de estudo em pós-graduação desde a década de 1980, dado o grande apelo clínico nas áreas de Genética Clínica, Pediatria e Neurologia Infantil, até então com auxílio do Laboratório de Patologia, além de convênio com a APAE de São Paulo para o diagnóstico de fenilcetonúria. Já iniciados os Programas de Pós-Graduação da FMRP-USP, a primeira tese a respeito foi realizada em 1980, sobre cistinúria, na Área de Genética; deficiência de glicose-6-fostato desidrogenase(G6PD) foi objetivo da segunda, em 1987, na de Pediatria. Desde essa época, garantem a rotina de investigação a realização da cromatografia de aminoácidos pelo Centro de Química de Proteínas daFMRP-USP, o convênio com o Serviço de Genética do HC de Porto Alegre-RS e a triagem urinária no Laboratório de Nutrologia, este, resultado de Mestrado em Neurologia em 1990. Nas duas últimas décadas vieram os ambulatórios especializados, o Programa de Triagem Neonatal, o tratamento por Reposição Enzimática e o apoio do Centro de Transplante de Células Tronco. Cabe ressaltar que até2009, apenas mais uma tese foi apresentada. A perpectiva para o desenvolvimento dessa área é a consolidação de uma linha de pesquisa voltada exclusivamente para os EIM na FMRP-USP.

Inborn errors of metabolism (IEM) are genetic diseases, mostly due to enzyme deficiencies leading to severe metabolic damages, increasingly diagnosed. The aim is to describe the history of the development of IEM diagnosis and treatment in the Hospital of Clinics of Ribeirão Preto, São Paulo University (HCFMRP-USP). At the beginnings of the Post-Graduate Programs in the School of Medicine of Ribeirão Preto of São Paulo University (FMRP-USP), the first thesis on IEM was performed in 1980 on cystinuria in the area of Genetics; G6PD goal was the second in 1987 in Pediatrics. Since that time, IEM diagnosis was possible, in the sequence, due to the chromatography of amino acids routine by the Center for Protein Chemistry, FMRP-USP in 1984, the partnership with the Department of Genetics, Hospital of Clinics of Porto Alegre. RS in 1988 and the urine screening in the Nutrology Laboratory of FMRP-USP, that resulted of a Master in Neurology in 1990. In the last two decades: the specialized out patients clinics, the Program for Neonatal Screening, treatment by enzyme replacement and support of the Stem Cell Transplantation Center were implemented. It is noteworthy that by 2009, just one more thesis was presented.The perspective for the development of this area is the consolidation of a line of research focused exclusively on the EIM in FMRP-USP.

frequency of consanguineous marriages and their effects on offsprings in Tabriz city

Too much diversity and ever increasing number of genetic disorders appear as a big challenge in coming future. One of the main sources of genetic disorders is the consanguineous marriages which are, unfortunately very common in our society. In order to prepare ourselves to accept the challenge, the first step is to get complete information of their prevalence and their risk factors. The study was made during 2003-2007 in Tabriz city of Iran. We selected 6000 families and a complete data was obtained on a questionnaire comprised of information regarding marital ages, number of pregnancies, type of delivery, ratio of consanguineous and non consanguineous marriages jobs of parents... etc and their effect on child malformations. Consanguineous marriages of all types were related with increased congenital malformations [with ratio 43/1000 for consanguineous marriages and for non consanguineous marriages 28/1000]. Mother age less than 18 and more than 35 particularly was accompanied with increased malformations while education of mother came out to be inversely related to congenital malformation. Increased stillbirths, consanguineous marriage and malformations, especially of musculoskeletal system require new planning on national level to control and aware people of the consequences of consanguineous marriages

Enfermedades de origen genético en pacientes pediátricos hospitalizados en la Provincia de Ubate, Colombia / Genetic diseases in pediatric patients hospitalised in the town of Ubaté, Colombia

Objetivo Realizar una descripción de la frecuencia de patologías genéticas en el servicio de hospitalización pediátrica de un hospital de segundo nivel de atención. Métodos Revisión completa de los registros del Departamento de Estadística del hospital en el año 2005. El estudio se realizo en el pueblo de Ubaté durante el año 2006. Resultados Cerca del 25 por ciento de las hospitalizaciones, se originó en enfermedades complejas, incluyendo enfermedades multifactoriales y malformaciones congénitas, sin embargo, el estudio etiológico y la valoración por el genetista se llevan a cabo en pocas ocasiones. Conclusiones El hospital de atención primaria debe ser un centro de referencia de mayor relevancia para la detección de patologías de causa genética en la población pediátrica, se requieren nuevos mecanismos para poner en práctica este propósito, con el fin de permitir a los pacientes acceso al genetista y llevar a cabo un diagnóstico etiológico y asesoría genética adecuados.

Objective Describing genetic disease frequency in a second-level hospital's in-patient paediatric service Methods The hospital's statistical department's records for 2005 were comprehensively reviewed; the study was carried out in the town of Ubaté during 2006. Results Complex diseases led to nearly 25 percent of all hospitalisations, including multifactor diseases and congenital malformations. However, an aetiological study and/or geneticist consultation or referral took place on a few occasions. Conclusions Primary care hospitals should become more relevant reference centres for detecting genetic diseases amongst the paediatric population. New mechanisms are needed for implementing this to allow patients access to a geneticist and for an aetiological diagnosis to be made and providing suitable genetic counselling.

Occurrence of congential anomalies and genetic diseases in a population of Ghazvin Province, Iran: a study of 33380 cases

The purpose of this study was to determine the incidence of congenital and genetic anomalies in two major referral hospitals and medical Genetic center in a population of Ghazvin Province. A cross sectional study was performed between 2000- 2004 on 33380 children from infancy to age 8 years. The precise and confirmed diagnosis of genetic and congenital anomalies was elaborated by reviewing pedigree of family population screening, genetic records of family data, routine tests such as application of molecular and karyotype and other essential information have been approached. In total, the more frequent malformation associated congenital anomalies among our patients was inborn error of metabolism [7.18%] followed by disorder of congenital hearth defects [6%]. We suggest a possible role of various factors such as different geographical may influence dissimilarities between present study and other population. Also the necessity of particular attention and emphasize on special screening program that helps to identify early stages of genetic and congenital malformation. These results together provide information to physicians and genetic counselors to realize contribution of congenital abnormalities and setting priorities of screening individual cases

Knowledge about human genetics among school students of eastern Nepal.

School students from 10 to 19 years of age are adolescents. Adolescent girls are usually exposed to consequences of early marriage, pregnancy and increased responsibility. Genetic disorders are important issues to persons of the reproductive age group. History-taking and screening-tests could uncover risk factors that require diagnostic testing during pregnancy. Therefore, the present survey was conducted among 707 school students (55.6% males, 44.4% females) to find out their knowledge about human genetics. Data were collected as written responses to a close-ended questionnaire. The knowledge of students about human genetic was found to be poor. The majority of students was not aware of the prevalence of genetic disorders in the community. Many students (75%) felt that genetic laboratory facilities and counseling services are necessary in this country. More than half of the students did not know the name of a hospital where genetic laboratory services are available. The study indicates that there is a need to introduce the basics of human genetics in the school curriculum and to implement strategies for awareness programs about genetic disorders and their early detection for possible intervention.

Endogamy, consanguinity and community genetics.

The population of India is composed of many thousands of subpopulations, divided by geography, language, religion and caste or biraderi (patrilineage) boundaries, with endogamous marriage the norm. The net effect has been the creation of multiple genetic isolates with individual mutation profiles, but to date the clinical consequences of this highly complex differentiation have been largely ignored. In contrast, the topic of consanguinity continues to attract attention among medical and population geneticists, clinicians and social scientists. The significant progress made in India in improving childhood nutritional status and combating infectious disease means that genetic disorders have assumed ever-increasing importance. In populations where consanguineous marriage is widely practised, recessive genetic disorders will continue to gain greater prominence in the overall spectrum of ill health. At the same time this increase will in part be negated by urbanization and the move to smaller family sizes, which predictably will result in a decline in the prevalence of consanguineous unions. Developing an understanding of these changes will require a wide-ranging and multidisciplinary investigative approach for which community genetics is ideally suited.