Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses.

Primary Health Care (PHC) is the gateway for patients in the Brazilian unified health system (Sistema Único de Saúde-SUS), playing an extremely important role in the identification of potential patients with genetic diseases, and referral to specialized and tertiary health services. The PHC is composed of a multidisciplinary team, including the Community Health Agent, who is in direct contact with the community. To implement an educational program aimed at community health agents working in several municipalities in the state of Rio Grande do Sul (RS), Brazil. The training was focused on genetic diseases in general, with a special focus on identifying patients with Mucopolysaccharidosis (MPS). Tests were applied before and after the educational intervention, in order to assess the participants' knowledge on the topic at these two moments. The study covered a total of ten training sessions carried out in eight municipalities in the RS state, training 374 community health agents. The number of correct answers in the pre-test (n = 339) was 8,4 (SD 1.2), while in the post-test (n = 361) it was 9,2 (SD 0.8). Statistical analysis showed that the educational intervention effectively provided information about genetic diseases to the participants. Considering that community health agents are of fundamental importance in the identification and prevention of diseases and in the better navigation of the patients on the SUS, these professionals play a key role in the field of rare genetic diseases, and continuous training strategies should be taken.

Clinical trials for genetic diseases in Latin America.

Latin American geneticists have been contributing to the scientific development of Human and Medical Genetics fields since the early 1950s. In the last decades, as Medical Genetics is moving toward a new era of innovative therapies for previously untreatable conditions, the participation of Latin America in clinical trials is also increasing. This review discusses the particularities regarding funding, regulatory, and ethical aspects of conducting clinical trials for genetic diseases in Latin America, with an especial focus on Brazil, the largest country with the highest number of studies. Although there are still several barriers to overcome, the recent development of orphan drug legislation and policies for rare diseases in many Latin American countries indicates a growing opportunity for the participation of the region in international efforts for the development of new therapies for genetic diseases.

Maternal nutritional status in diabetes mellitus and neonatal characteristics at birth.

OBJECTIVES: to analyze the nutritional status of women with diagnosis of Diabetes mellitus in pregnancy and the newborns' characteristics in relation to health conditions at birth. METHODS: transversal study with data from 394 electronic medical charts (197 newborn and 197 mothers), between 2017 and 2018. Descriptive and analytical statistics. RESULTS: there was prevalence of women with Gestational Diabetes (78.2%), followed by Type II Diabetes (13.7%) and Type I Diabetes (8.1%), and of term births (85.3%) and cesarean deliveries (54.8%). Type I Diabetes was associated to earlier gestational age at birth (p>0.001) and obesity during pregnancy was associated to higher birth weight of newborns (p=0.024). Clinical complications occurred in 37.6% of newborns. Among complications, Type I Diabetes was associated with respiratory disorder (p=0.005), and prematurity was associated with mother's overweight/obesity (p=0.010). CONCLUSIONS: we strongly advise about the need of metabolic and nutritional control during gestations that course with Diabetes mellitus, due occurrence of negative consequences to the newborn´s health at birth.

Inflammatory signs and epileptic crisis in patients admitted in an emergency unit.

OBJECTIVE: To evaluate inflammatory signs presented in medical records of patients with a main diagnosis of epileptic seizures, admitted in an emergency unit. METHOD: Cross-sectional and retrospective study. The sample was composed of 191 medical records, from children, adolescents, adults, and elders, with a clinical diagnosis of epileptic seizures, admitted between June 2016 and June 2017 at the emergency unit of a hospital in Porto Alegre/RS. RESULTS: The prevalent inflammatory signs were tachypnea (33.5%) and/or fever (27.2%) associated with leukocytosis (P=0.030). Children/adolescents had seizures less frequently (P=0.010) and these were due to fever (P=0.000). Adults presented seizures more frequently (P=0.006), which were related to medication/intoxication (P=0.000). In elders, seizures occurred due to metabolic or circulatory abnormalities (P=0.000), less often due to fever (P=0.005). CONCLUSION: Seizures are related to fever and tachypnea, being caused by different etiologies according to age, being more frequent in adults. Fever is related to leukocytosis, regardless of age.

Maternal nutritional status in diabetes mellitus and neonatal characteristics at birth / Estado nutricional materno en diabetes mellitus y características neonatales al nacimiento / Estado nutricional materno no diabetes mellitus e características neonatais ao nascimento

ABSTRACT Objectives: to analyze the nutritional status of women with diagnosis of Diabetes mellitus in pregnancy and the newborns' characteristics in relation to health conditions at birth. Methods: transversal study with data from 394 electronic medical charts (197 newborn and 197 mothers), between 2017 and 2018. Descriptive and analytical statistics. Results: there was prevalence of women with Gestational Diabetes (78.2%), followed by Type II Diabetes (13.7%) and Type I Diabetes (8.1%), and of term births (85.3%) and cesarean deliveries (54.8%). Type I Diabetes was associated to earlier gestational age at birth (p>0.001) and obesity during pregnancy was associated to higher birth weight of newborns (p=0.024). Clinical complications occurred in 37.6% of newborns. Among complications, Type I Diabetes was associated with respiratory disorder (p=0.005), and prematurity was associated with mother's overweight/obesity (p=0.010). Conclusions: we strongly advise about the need of metabolic and nutritional control during gestations that course with Diabetes mellitus, due occurrence of negative consequences to the newborn´s health at birth.

RESUMEN Objetivos: analizar el estado nutricional de las mujeres diagnosticadas con Diabetes mellitus durante el embarazo y las características neonatales relacionadas con las condiciones de nacimiento. Métodos: investigación transversal con datos de registros computarizados de 394 registros médicos (197 de madres y 197 de sus recién nacidos), entre 2017 y 2018. Estadísticas descriptivas y analíticas. Resultados: prevalencia de mujeres con Diabetes Gestacional (78.2%) seguido de Diabetes Tipo II (13.7%) y Diabetes Tipo I (8.1%), y recién nacidos a término (85.3%) nacidos por cesárea (54,8%). Diabetes Tipo I se asoció con una menor edad gestacional (EG) al nacer (p<0.001) y mujeres embarazadas obesas con mayor peso al nacer (p=0.024). Las complicaciones clínicas ocurrieron en el 37.6% de los recién nacidos. Entre las complicaciones, Diabetes Tipo I se asoció con trastorno respiratorio (p=0.005) y sobrepeso/obesidad materna en la prematuridad (p=0.010). Conclusiones: se reitera la necesidad del control metabólico y nutricional durante el embarazo con Diabetes mellitus, debido aparición de consecuencias negativas en el recién nacido.

RESUMO Objetivos: analisar o estado nutricional de mulheres com diagnóstico de Diabetes mellitus na gestação e as características neonatais referentes às condições de nascimento. Métodos: estudo transversal, com dados de registros informatizados de 394 prontuários (197 de mães e 197 de seus neonatos), entre os anos de 2017 e 2018. Estatística descritiva e analítica. Resultados: prevalência de mulheres com Diabetes Gestacional (78,2%), seguido por Diabetes Tipo II (13,7%) e Diabetes Tipo I (8,1%), e de neonatos a termo (85,3%) nascidos por cesariana (54,8%). Diabetes Tipo I foi associado a menor idade gestacional ao nascimento (p<0,001) e gestantes obesas ao maior peso de nascimento (p=0,024). Complicações clínicas ocorreram em 37,6% dos neonatos. Dentre as complicações, Diabetes Tipo I foi associado a distúrbio respiratório (p=0,005), e sobrepeso/obesidade maternos, à prematuridade (p=0,010). Conclusões: reitera-se a necessidade do controle metabólico e nutricional na gestação com Diabetes mellitus, devido ocorrência de consequências negativas no neonato.

Maternal nutritional status in diabetes mellitus and neonatal characteristics at birth / Estado nutricional materno en diabetes mellitus y características neonatales al nacimiento / Estado nutricional materno no diabetes mellitus e características neonatais ao nascimento

ABSTRACT Objectives: to analyze the nutritional status of women with diagnosis of Diabetes mellitus in pregnancy and the newborns' characteristics in relation to health conditions at birth. Methods: transversal study with data from 394 electronic medical charts (197 newborn and 197 mothers), between 2017 and 2018. Descriptive and analytical statistics. Results: there was prevalence of women with Gestational Diabetes (78.2%), followed by Type II Diabetes (13.7%) and Type I Diabetes (8.1%), and of term births (85.3%) and cesarean deliveries (54.8%). Type I Diabetes was associated to earlier gestational age at birth (p>0.001) and obesity during pregnancy was associated to higher birth weight of newborns (p=0.024). Clinical complications occurred in 37.6% of newborns. Among complications, Type I Diabetes was associated with respiratory disorder (p=0.005), and prematurity was associated with mother's overweight/obesity (p=0.010). Conclusions: we strongly advise about the need of metabolic and nutritional control during gestations that course with Diabetes mellitus, due occurrence of negative consequences to the newborn´s health at birth.

RESUMEN Objetivos: analizar el estado nutricional de las mujeres diagnosticadas con Diabetes mellitus durante el embarazo y las características neonatales relacionadas con las condiciones de nacimiento. Métodos: investigación transversal con datos de registros computarizados de 394 registros médicos (197 de madres y 197 de sus recién nacidos), entre 2017 y 2018. Estadísticas descriptivas y analíticas. Resultados: prevalencia de mujeres con Diabetes Gestacional (78.2%) seguido de Diabetes Tipo II (13.7%) y Diabetes Tipo I (8.1%), y recién nacidos a término (85.3%) nacidos por cesárea (54,8%). Diabetes Tipo I se asoció con una menor edad gestacional (EG) al nacer (p<0.001) y mujeres embarazadas obesas con mayor peso al nacer (p=0.024). Las complicaciones clínicas ocurrieron en el 37.6% de los recién nacidos. Entre las complicaciones, Diabetes Tipo I se asoció con trastorno respiratorio (p=0.005) y sobrepeso/obesidad materna en la prematuridad (p=0.010). Conclusiones: se reitera la necesidad del control metabólico y nutricional durante el embarazo con Diabetes mellitus, debido aparición de consecuencias negativas en el recién nacido.

RESUMO Objetivos: analisar o estado nutricional de mulheres com diagnóstico de Diabetes mellitus na gestação e as características neonatais referentes às condições de nascimento. Métodos: estudo transversal, com dados de registros informatizados de 394 prontuários (197 de mães e 197 de seus neonatos), entre os anos de 2017 e 2018. Estatística descritiva e analítica. Resultados: prevalência de mulheres com Diabetes Gestacional (78,2%), seguido por Diabetes Tipo II (13,7%) e Diabetes Tipo I (8,1%), e de neonatos a termo (85,3%) nascidos por cesariana (54,8%). Diabetes Tipo I foi associado a menor idade gestacional ao nascimento (p<0,001) e gestantes obesas ao maior peso de nascimento (p=0,024). Complicações clínicas ocorreram em 37,6% dos neonatos. Dentre as complicações, Diabetes Tipo I foi associado a distúrbio respiratório (p=0,005), e sobrepeso/obesidade maternos, à prematuridade (p=0,010). Conclusões: reitera-se a necessidade do controle metabólico e nutricional na gestação com Diabetes mellitus, devido ocorrência de consequências negativas no neonato.

Hypothermia and the newborn's bath in the first hours of life. / Hipotermia e banho do recém-nascido nas primeiras horas de vida.

OBJECTIVE: to analyze the occurrence of hypothermia in neonates before and after bathing in the first hours of life. METHOD: a cross-sectional study in which the axillary temperature of newborns before bathing, after bathing, 30 and 60 minutes after bathing was verified at an Obstetric Center. In the statistical analysis, the Chi-Square, Student's t and Mann-Whitney tests were used, with α = 0.05. RESULTS: A total of 149 newborns were included in the study, showing the prevalence of neonatal hypothermia in 40.3% of the cases, with a statistically significant association (p <0.001) between the occurrence of neonatal hypothermia at all axillary temperature assessments. A statistically significant correlation was found between the variables: room temperature and temperature verification 60 minutes after bath (p = 0.032). CONCLUSIONS: It is concluded that the first bath can be postponed to favor the adaptation of the neonate to the extrauterine environment, preventing the occurrence of neonatal hypothermia.

Hipotermia e banho do recém-nascido nas primeiras horas de vida / Hipotermia y el baño del recién nascido en las primeras horas de vida / Hypothermia and the newborn's bath in the first hours of life

Resumo OBJETIVO analisar a ocorrência de hipotermia em recém-nascidos antes e após o banho nas primeiras horas de vida. MÉTODO estudo transversal, no qual se verificou a temperatura axilar de recém-nascidos antes do banho, após o banho, 30 minutos após o banho e 60 minutos, no Centro Obstétrico. Na análise estatística utilizou-se os Testes Qui-Quadrado, t de Student e Mann-Whitney, com α = 0,05. RESULTADOS Foram incluídos 149 recém-nascidos no estudo, evidenciando-se a prevalência de hipotermia neonatal em 40,3% dos casos, tendo associação com significância estatística (p< 0,001) entre a ocorrência de hipotermia neonatal em todos os momentos de verificação de temperatura axilar. Constatou-se correlação estatística significativa entre as variáveis: temperatura da sala de parto e a verificação da temperatura 60 minutos após o banho (p= 0,032). CONCLUSÕES Conclui-se que o primeiro banho pode ser adiado para favorecer a adaptação do neonato ao ambiente extrauterino, prevenindo a ocorrência de hipotermia neonatal.

Resumen OBJETIVO analizar la ocurrencia de hipotermia en recién nacidos antes y después del baño en las primeras horas de vida. MÉTODO estudio transversal, en el cual se verificó la temperatura axilar de recién nacidos antes del baño, después del baño, 30 minutos después del baño y 60 minutos, en el Centro Obstétrico. En el análisis estadístico se utilizaron las pruebas Qui-cuadrado, t de Student y Mann-Whitney, con α = 0,05. RESULTADOS Se incluyeron 149 recién nacidos en el estudio, evidenciándose la prevalencia de hipotermia neonatal en el 40,3% de los casos, teniendo asociación con significancia estadística (p <0,001) entre la ocurrencia de hipotermia neonatal en todos los momentos de verificación de temperatura axilar. Se constató correlación estadística significativa entre las variables: temperatura de la sala de parto y la verificación de la temperatura 60 minutos después del baño (p = 0,032). CONCLUSIONES Se concluye que el primer baño puede ser pospuesto para favorecer la adaptación del neonato al ambiente extrauterino, previniendo la ocurrencia de hipotermia neonatal.

Abstract OBJECTIVE to analyze the occurrence of hypothermia in neonates before and after bathing in the first hours of life. METHOD a cross-sectional study in which the axillary temperature of newborns before bathing, after bathing, 30 and 60 minutes after bathing was verified at an Obstetric Center. In the statistical analysis, the Chi-Square, Student's t and Mann-Whitney tests were used, with α = 0.05. RESULTS A total of 149 newborns were included in the study, showing the prevalence of neonatal hypothermia in 40.3% of the cases, with a statistically significant association (p <0.001) between the occurrence of neonatal hypothermia at all axillary temperature assessments. A statistically significant correlation was found between the variables: room temperature and temperature verification 60 minutes after bath (p = 0.032). CONCLUSIONS It is concluded that the first bath can be postponed to favor the adaptation of the neonate to the extrauterine environment, preventing the occurrence of neonatal hypothermia.