Políticas de saúde pública aplicadas à genética médica no Brasil

The participation of genetic defects in child death rate became more significant after the decline of the others death causes, due to the improvement in the social-economic conditions, getting the focus of health professionals. According to World Health Organization (WHO), every year, 7,6 million of children are born with a serious genetic defect. Brazil is heterogeneous in its child death rate because of the high social- economic differences and because of basic health programs impacts. This study aims to know and to describe the governmental and non-governmental public health programs in Brazil nowadays, more precisely in Bahia state, related to prevention and treatment of genetic diseases. Among the governmental actions related to prevention and monitoring of the genetic disease is the “Programa Nacional de Triagem Neonatal”, the program for folic acid flour enrichment and the implementation of “Campo 34” in the “Declaração Nacional de Nascidos Vivos”. Among the non-governmental actions related to the prevention and monitoring of the genetic diseases, will be discussed the “Estudo Colaborativo Latino Americano de Malformações Congênitas” and the “Sistema Nacional de Informações sobre Agentes Teratogênicos”. About the actions related to treatment of the genetic diseases the programs: “Programa de Osteogênese Imperfeita” and the “Doença de Gaucher” will be discussed.A participação dos defeitos congênitos na mortalidade infantil tornou-se mais significativa com o declínio das demais causas, por melhorias das condições socioeconômicas, o que desperta maior interesse entre os profissionais de saúde pública. De acordo com a Organização Mundial de Saúde (OMS), 7,6 milhões de crianças nascem anualmente com um defeito genético grave. O Brasil apresenta-se heterogêneo em relação às taxas de mortalidade infantil, devido às disparidades socioeconômicas, e no alcance dos programas básicos de saúde. Este trabalho objetiva conhecer e descrever os programas de saúde pública, governamentais e não-governamentais, em vigência no Brasil e, em particular, no Estado da Bahia, relacionados à prevenção, manejo e tratamento das doenças genéticas. Dentre as ações governamentais relacionadas à prevenção e monitorização das doenças genéticas, estão o Programa Nacional de Triagem Neonatal, o Programa de fortificação das farinhas com ácido fólico, a Implantação do Campo 34 na Declaração Nacional de Nascidos Vivos. Dentre as ações não-governamentais relacionadas à prevenção e monitorização das doenças genéticas, serão citados o Estudo Colaborativo Latino-americano de Malformações Congênitas e o Sistema Nacional de Informação sobre Agentes Teratogênicos. Quanto às ações relacionadas ao manejo e tratamento das doenças genéticas, existem o Programa de Osteogênese Imperfeita e o da Doença de Gaucher

Aspectos gerais da Síndrome do X-Frágil: principal causa hereditária de retardo mental

The divulgation of information on the Fragile X Syndrome (FXS) is necessary not only for the families, but mainly for the health  professionals .  FXS is considered to be the main hereditary cause and the second genetic etiology of mental retardation (MR), being only  surpassed by  the  Down syndrome. The individual suffering from FXS presents a mutation in the gene FMR-1(Mental Fragile Retardation) located in chromosome X. Beyond  MR, the main characteristics are: long face, large ears and macroorchidism. The treatment currently available requires a  multidisciplinary approach combining therapeutical strategies, special education and medicine used  in accordance with the specific necessities of each carrier. The FXS is deserving great attention, not only because of its prevalence, but also because of the peculiarities of its transmission and the problems it causes. It is  very important to identify the families in which the alleles are segregating in the form of  premutation  in order to give a better orientation during the genetic counseling.Existe uma grande necessidade de divulgar informações sobre a Síndrome do X-frágil (SXF), não só para as famílias, mas principalmente para os profissionais da área de saúde. A SXF é considerada a principal causa hereditária e a segunda etiologia genética de retardo mental (RM). O indivíduo acometido pela SXF apresenta uma mutação no gene FMR-1 (Fragile Mental Retardation 1), localizado no cromossomo X. Além do RM, as principais características são: face alongada, orelhas grandes e macroorquidia. O tratamento atual disponível requer uma abordagem multidisciplinar, podendo combinar atendimentos terapêuticos, educação especial e uso de medicamentos de acordo com as necessidades específicas de cada portador. A SXF vem merecendo grande atenção, não apenas por sua prevalência, mas também pelas peculiaridades de sua transmissão e por distúrbios a ela associados. É de grande importância a identificação das famílias nas quais os alelos estão se segregando na forma de pré-mutação, para melhor orientação no aconselhamento genético

Genotype And Natural History In Unrelated Individuals With Phenylketonuria And Autistic Behavior.

We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals.65202-

eneRgy expendituRe duRing gait in patients witH mucopolysaccHaRidosis

ABSTRACT Objective: The aim of this study is to evaluate energy expenditure in gait by mucopolysaccharidosis affected patients by means of a simple and adequate to the clinical environment methodology. Methods: A cross-sectional study was carried out comparing energy expenditure during gait in 19 patients suffering from mucopolysaccharidosis (MPS Group) with 19 asymptomatic control individuals (Control Group). Energy expenditure was measured in calories (cal) using a Polar telemetric watch (model FT7) during a 50 meter walk. Variables such as age, weight, height, body mass index (BMI), initial hart rate, final hart rate, and walking time, were recorded. Results: MPS Group showed a mean energy expenditure during gait of 2.84 cal (±1,01), versus 1.42 cal (±0,51), 100% higher than the Control Group; MPS also presented increased initial hart rate (22% higher), final hart rate (13% higher) and walking time (13% higher). Conclusions: Energy expenditure during gait in MPS patients was two times higher than control individuals; the methodology used showed to be a promising alternative, also adequate to the standard clinical environment. Level of Evidence III, Cross-sectional Comparative Study

Genótipo e história natural em indivíduos não aparentados com fenilcetonúria e comportamento autístico

We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals.Descrevemos três indivíduos não aparentados, dois do sexo masculino (com idades de 35 e nove anos) e um do sexo feminino (com idade de oito anos) apresentando fenilcetonúria diagnosticada tardiamente e comportamento autístico, todos com adesão limitada ao tratamento dietético resultando em altos níveis plasmáticos de fenilalanina, especialmente no indivíduo mais velho. Os achados clínicos incluem hipopigmentação de cabelos, retardo mental grave com ausência de desenvolvimento da linguagem verbal e sintomas autísticos nos três pacientes, enquanto outros achados neurológicos como convulsões, espasticidade, ataxia, agressividade e hiperatividade são descritos em um indivíduo, cada. Homozigose para a mutação IVS10nt11g/a (IVS10nt546) foi encontrada em todos. Este é o primeiro relato de achados moleculares em indivíduos com fenilcetonúria que desenvolveram características autísticas. Discute-se se essa mutação estaria particularmente envolvida no desenvolvimento de sintomas autísticos em indivíduos com fenilcetonúria não tratada.20220

Risco teratogênico: a percepção em diferentes segmentos da população

The wrong perception of the true teratogenic risk of the drugs used in pregnancy may lead the mistaken management of pregnancy: the unnecessary termination of the wanted pregnancy or damages fetuses forever. The knowledge about the teratogenic risk is very important for the general population, and mainly for the health professionals. The perception of the teratogenic risk of fifteen common medications and two illicit drugs by physicians, medical students and lay women was assessed employing a visualanalogue scale with the percentual risk of a child born with congenital anomaly caused by drugs used during pregnancy. The average of the teratogenic risk for the assessed drugs was higher than the true risk in all groups. The most common risk of malformation in the general population was recognised by gynaecologists and obstericians. The best improvement was with the more common drugs used in pregancy (paracetamol and amoxycillin) and recognised by gynaecologists and obstetricians.A percepção errônea do real risco teratogênico das drogas às quais as gestantes são expostas pode induzir a erros graves de conduta perante uma gravidez, ou pela interrupção desnecessária da gestação desejada, ou devido às seqüelas permanentes nas crianças. O conhecimento sobre o risco teratogênico é de fundamental importância para a população geral e, principalmente, para a comunidade médica. A percepção do risco teratogênico de quinze fármacos habituais e duas drogas ilícitas foi avaliada entre médicos, estudantes de medicina e mulheres leigas, utilizando-se uma escala visual, na qual os entrevistados assinalaram o risco em percentual de uma criança nascer com anomalia congênita secundária à exposição intra-útero às drogas estudadas. A média da percepção do risco teratogênico para as drogas avaliadas foi maior do que o risco real entre todos os grupos estudados. O risco real de anomalia congênita na população geral foi melhor reconhecido entre os médicos ginecologistas e obstetras. O melhor índice de acerto foi para drogas mais rotineiramente utilizadas durante a gestação (paracetamol e amoxacilina), de acordo com os obstetras

Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil

Temporal trends in prevalence and infant mortality of birth defects in Brazil, from 2001 to 2018

Congenital anomalies (CA) are a relevant problem for global public health, affecting about 3% to 6% of newborns worldwide. In Brazil, these are the second main cause of infant mortality. Thus, extensive studies are needed to demonstrate the impact of these anomalies on births and deaths. The present study describes the temporal trends of prevalence and infant mortality due to CA among live births in Brazil and regions, from 2001 to 2018, using the related data between the Live Birth Information System (SINASC, acronym in Portuguese) and the Mortality Information System (SIM, acronym in Portuguese). The prevalence and infant mortality due to CA has increased in Brazil and in most regions, especially in the Northeast and North. CAs in the musculoskeletal system were the most frequent at birth (29.8/10,000 live births), followed by those in the circulatory system (12.7/10,000 live births), which represented the primary cause of death in this group. The applied linkage technique made it possible to correct the national prevalence of CA by 17.9% during the analyzed period, after retrieving the anomalies reported in SIM, thereby proving to be a good tool to improve the quality of information on anomalies in Brazil