Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 13 de 13
Filter
1.
Braz J Infect Dis ; 25(3): 101591, 2021.
Article in English | MEDLINE | ID: mdl-34133953

ABSTRACT

The outbreak of the new coronavirus (SARS-CoV-2) causing the coronavirus disease (COVID-19) has spread globally. As of June 18, 2020, a high maternal mortality rate due to SARS-CoV-2 infections was identified in Brazil, representing most of the world cases at that time. An observational, cross-sectional study was performed with pregnant women admitted in two maternity hospitals located in Salvador/Bahia and their newborns, from May 24th up to July 17th of 2020. Among 329 pregnant women enrolled at hospital admission, a high prevalence (n=28; 8.5%) of pregnant women with COVID-19 was observed, as well as a high proportion of asymptomatic cases (n=19; 67.9%). Two newborns had detectable SARS-CoV-2 but evolved without abnormalities. This data highlight the importance of identifying pregnant women with COVID-19 for proper isolation measures to prevent in-hospital transmission.


Subject(s)
COVID-19 , Pregnancy Complications, Infectious , Brazil/epidemiology , Cross-Sectional Studies , Female , Hospitals, Maternity , Humans , Infant, Newborn , Infectious Disease Transmission, Vertical , Pregnancy , Pregnancy Complications, Infectious/epidemiology , Pregnancy Outcome , Pregnant Women , SARS-CoV-2
2.
Nutr. hosp ; 38(1): 36-42, ene.-feb. 2021. tab, graf
Article in English | IBECS | ID: ibc-198838

ABSTRACT

INTRODUCTION: human growth is the result of an interaction between genetic, hormonal, nutritional, and environmental factors. It is not yet fully understood what is predominant and decisive in determining an individual's weight and height. OBJECTIVE: the aim of this study was to evaluate the cardiometabolic profile of exclusively breastfed children born small for gestational age (SGA). METHODS: this is a prospective cohort study of children born at term who were classified as SGA, and as appropiate for gestational age (AGA), who were followed up to pre-school age. Anthropometric measures and body composition parameters were obtained. Breastfeeding duration was calculated in days, and achievement of catch up of weight was considered an increase in Z-score ≥ 0.67. The cardiometabolic profile was evaluated in the first month of life and repeated at pre-school age. At pre-school age, fasting blood glucose, insulin, HOMA-IR, and blood pressure were measured. RESULTS: twenty SGA and 12 AGA children were studied. The mean duration of exclusive breastfeeding (EBF) was 180 days in both groups. Of SGA children, 85 % had recovery anthropometric parameters for age within the first six months, with a speed of weight gain significantly higher than the that of AGAs (p < 0.001). SGAs continued to be thinner and smaller than AGAs at pre-school age. There was no diagnosis of overweight or obesity in the studied sample, and no differences were foun between groups in laboratory tests. CONCLUSION: these findings suggest that EBF may confer protection until pre-school age in children born SGA, who are considered at higher risk for chronic non-communicable diseases


INTRODUCCIÓN: el crecimiento humano es el resultado de la interacción de factores genéticos, hormonales, nutricionales y ambientales. Todavía no se comprende completamente lo que es predominante y decisivo para determinar el peso y la altura del individuo. OBJETIVO: el objetivo de este estudio fue evaluar el perfil cardiometabólico de niños alimentados con lactancia materna exclusivamente y que nacieron pequeños para la edad gestacional (PEG). MÉTODOS: este es un estudio de cohortes prospectivo con niños nacidos a término, unos clasificados como PEG y otros como apropiados para la edad gestacional (AEG). Se hizo un seguimiento de estos niños hasta la edad preescolar. Se realizaron medidas antropométricas y de la composición corporal. La duración de la lactancia materna se calculó en días y el éxito en la recuperación del peso se consideró como un aumento de la puntuación Z ≥ 0,67. El perfil cardiometabólico se evaluó en el primer mes de vida y se repitió en la edad preescolar. En la edad preescolar se midieron la glucosa en sangre en ayunas, la insulina, el HOMA-IR y la presión arterial. RESULTADOS: el grupo del estudio estaba formado por veinte niños PEG y doce niños AEG. La duración media de la lactancia materna exclusiva (LME) fue de 180 días en ambos grupos. De los niños PEG, el 85 % tenían parámetros antropométricos de recuperación para la edad en los primeros seis meses, siendo la velocidad del aumento de peso significativamente mayor que en los AEG (p < 0,001). Aun así, los niños PEG continuaron siendo más delgados y pequeños que los AEG en la edad preescolar. No hubo diagnóstico de sobrepeso u obesidad en la muestra estudiada, y no hay diferencia entre los grupos relativos a las pruebas de laboratorio. CONCLUSIÓN: estos hallazgos sugieren que la LME puede conferir protección hasta la edad preescolar en los niños nacidos PEG, que se consideran en mayor riesgo de contraer enfermedades crónicas no transmisibles


Subject(s)
Humans , Male , Female , Child, Preschool , Gestational Age , Milk, Human/metabolism , Infant, Small for Gestational Age/metabolism , Infant, Small for Gestational Age/physiology , Metabolic Syndrome/prevention & control , Cohort Studies , Infant, Small for Gestational Age/growth & development , Overweight/prevention & control , Prospective Studies , Blood Pressure , Cardiovascular Diseases/prevention & control
3.
Nutr Hosp ; 38(1): 36-42, 2021 Feb 23.
Article in English | MEDLINE | ID: mdl-33319572

ABSTRACT

INTRODUCTION: Introduction: human growth is the result of an interaction between genetic, hormonal, nutritional, and environmental factors. It is not yet fully understood what is predominant and decisive in determining an individual's weight and height. Objective: the aim of this study was to evaluate the cardiometabolic profile of exclusively breastfed children born small for gestational age (SGA). Methods: this is a prospective cohort study of children born at term who were classified as SGA, and as appropiate for gestational age (AGA), who were followed up to pre-school age. Anthropometric measures and body composition parameters were obtained. Breastfeeding duration was calculated in days, and achievement of catch up of weight was considered an increase in Z-score ≥ 0.67. The cardiometabolic profile was evaluated in the first month of life and repeated at pre-school age. At pre-school age, fasting blood glucose, insulin, HOMA-IR, and blood pressure were measured. Results: twenty SGA and 12 AGA children were studied. The mean duration of exclusive breastfeeding (EBF) was 180 days in both groups. Of SGA children, 85 % had recovery anthropometric parameters for age within the first six months, with a speed of weight gain significantly higher than the that of AGAs (p < 0.001). SGAs continued to be thinner and smaller than AGAs at pre-school age. There was no diagnosis of overweight or obesity in the studied sample, and no differences were foun between groups in laboratory tests. Conclusion: these findings suggest that EBF may confer protection until pre-school age in children born SGA, who are considered at higher risk for chronic non-communicable diseases.


INTRODUCCIÓN: Introducción: el crecimiento humano es el resultado de la interacción de factores genéticos, hormonales, nutricionales y ambientales. Todavía no se comprende completamente lo que es predominante y decisivo para determinar el peso y la altura del individuo. Objetivo: el objetivo de este estudio fue evaluar el perfil cardiometabólico de niños alimentados con lactancia materna exclusivamente y que nacieron pequeños para la edad gestacional (PEG). Métodos: este es un estudio de cohortes prospectivo con niños nacidos a término, unos clasificados como PEG y otros como apropiados para la edad gestacional (AEG). Se hizo un seguimiento de estos niños hasta la edad preescolar. Se realizaron medidas antropométricas y de la composición corporal. La duración de la lactancia materna se calculó en días y el éxito en la recuperación del peso se consideró como un aumento de la puntuación Z ≥ 0,67. El perfil cardiometabólico se evaluó en el primer mes de vida y se repitió en la edad preescolar. En la edad preescolar se midieron la glucosa en sangre en ayunas, la insulina, el HOMA-IR y la presión arterial. Resultados: el grupo del estudio estaba formado por veinte niños PEG y doce niños AEG. La duración media de la lactancia materna exclusiva (LME) fue de 180 días en ambos grupos. De los niños PEG, el 85 % tenían parámetros antropométricos de recuperación para la edad en los primeros seis meses, siendo la velocidad del aumento de peso significativamente mayor que en los AEG (p < 0,001). Aun así, los niños PEG continuaron siendo más delgados y pequeños que los AEG en la edad preescolar. No hubo diagnóstico de sobrepeso u obesidad en la muestra estudiada, y no hay diferencia entre los grupos relativos a las pruebas de laboratorio. Conclusión: estos hallazgos sugieren que la LME puede conferir protección hasta la edad preescolar en los niños nacidos PEG, que se consideran en mayor riesgo de contraer enfermedades crónicas no transmisibles.


Subject(s)
Breast Feeding , Infant, Small for Gestational Age/blood , Infant, Small for Gestational Age/growth & development , Milk, Human , Weight Gain , Adiposity , Blood Glucose/analysis , Blood Pressure Determination/methods , Body Composition , Body-Weight Trajectory , Breast Feeding/statistics & numerical data , Child, Preschool , Fasting/blood , Gestational Age , Homeostasis , Humans , Infant , Infant, Newborn , Insulin/blood , Insulin Resistance , Prospective Studies , Term Birth , Time Factors
4.
Braz. j. infect. dis ; 25(3): 101591, 2021. tab
Article in Spanish | LILACS | ID: biblio-1339420

ABSTRACT

ABSTRACT The outbreak of the new coronavirus (SARS-CoV-2) causing the coronavirus disease (COVID-19) has spread globally. As of June 18, 2020, a high maternal mortality rate due to SARS-CoV-2 infections was identified in Brazil, representing most of the world cases at that time. An observational, cross-sectional study was performed with pregnant women admitted in two maternity hospitals located in Salvador/Bahia and their newborns, from May 24th up to July 17th of 2020. Among 329 pregnant women enrolled at hospital admission, a high prevalence (n=28; 8.5%) of pregnant women with COVID-19 was observed, as well as a high proportion of asymptomatic cases (n=19; 67.9%). Two newborns had detectable SARS-CoV-2 but evolved without abnormalities. This data highlight the importance of identifying pregnant women with COVID-19 for proper isolation measures to prevent in-hospital transmission.


Subject(s)
Pregnancy Complications, Infectious/epidemiology , COVID-19 , Brazil/epidemiology , Pregnancy Outcome , Cross-Sectional Studies , Infectious Disease Transmission, Vertical , Pregnant Women , SARS-CoV-2 , Hospitals, Maternity
5.
J. pediatr. (Rio J.) ; 95(3): 264-274, May-June 2019. tab, graf
Article in English | LILACS | ID: biblio-1012603

ABSTRACT

Abstract Objective: To systematically review evidence related to nutritional and cardiometabolic outcomes in children born at term and small for gestational age and the association with breastfeeding. Source of data: Two independent reviewers searched the MEDLINE, LILACS, SciELO, and Embase databases without time or language restrictions. The PRISMA tool was used, and studies that evaluated infants born at term and small for gestational age, breastfed, and with an evaluation of cardiometabolic outcomes were included. Studies with preterm infants, those that did not have information on breastfeeding, and those with lack of evaluation of the outcome variables were excluded. Also excluded were review articles, editorials, and series of cases. Summary of data: Only seven articles were found that met the abovementioned criteria. There was a great variability in the type of evaluation, as well as in the age of these children. It was demonstrated that breastfeeding promoted growth without body composition alteration and without increased insulin resistance in children with exclusive breastfeeding, when compared to children receiving a higher calorie formula, except for one article that observed an increase in fat mass in exclusively breastfed children. Conclusion: Breastfeeding seems to be a safe feeding practice for infants born at term and small for gestational age, showing no association with deleterious short-term outcomes. Breastfeeding stimulation in these populations seems to be a way of preventing the health problems associated with the high risk of chronic noncommunicable diseases and obesity.


Resumo Objetivo: Revisar sistematicamente as evidências relacionadas aos desfechos nutricionais e cardiometabólicos em crianças nascidas a termo e pequenas para idade gestacional e a relação com o aleitamento materno. Fonte de dados: Dois revisores independentes fizeram buscas nas bases de dados MEDLINE,LILACS, SciELO, EMBASE sem restrições de tempo ou idioma. Foi usada a ferramenta PRISMA sendo incluídos estudos que avaliaram crianças nascidas a termo e pequenas para idade gestacional, amamentadas e com avaliação dos desfechos cardiometabólicos. Foram excluídos estudos com prematuros, aqueles que não trouxessem informação do aleitamento materno, ausência de avaliação das variáveis de desfecho. Também não foram incluídos artigos de revisão, editorial e série de casos. Síntese dos dados: Foram encontrados apenas sete artigos que preencheram os critérios citados acima. Houve uma grande variabilidade na forma de avaliação, assim como na idade dessas crianças. Foi evidenciado que o aleitamento materno promoveu crescimento sem alteração de composição corporal e sem resistência insulínica aumentada nas crianças com aleitamento materno exclusivo, quando comparadas com crianças que receberam fórmula láctea de maior teor calórico, exceto por um artigo que observou aumento de massa gorda nos amamentados exclusivamente. Conclusão: Aleitamento materno parece ser uma forma segura de alimentação para crianças nascidas a termo e pequenas para idade gestacional sem associação com desfechos deletérios em curto prazo. O estímulo ao aleitamento materno nessas populações parece ser um caminho de prevenção aos agravos à saúde associados ao alto risco de doenças crônicas não transmissíveis e à obesidade.


Subject(s)
Humans , Infant, Newborn , Infant , Child , Breast Feeding , Infant, Small for Gestational Age , Metabolic Syndrome , Obesity , Time Factors , Child Development , Feeding Behavior
6.
J Pediatr (Rio J) ; 95(3): 264-274, 2019.
Article in English | MEDLINE | ID: mdl-30138579

ABSTRACT

OBJECTIVE: To systematically review evidence related to nutritional and cardiometabolic outcomes in children born at term and small for gestational age and the association with breastfeeding. SOURCE OF DATA: Two independent reviewers searched the MEDLINE, LILACS, SciELO, and Embase databases without time or language restrictions. The PRISMA tool was used, and studies that evaluated infants born at term and small for gestational age, breastfed, and with an evaluation of cardiometabolic outcomes were included. Studies with preterm infants, those that did not have information on breastfeeding, and those with lack of evaluation of the outcome variables were excluded. Also excluded were review articles, editorials, and series of cases. SUMMARY OF DATA: Only seven articles were found that met the abovementioned criteria. There was a great variability in the type of evaluation, as well as in the age of these children. It was demonstrated that breastfeeding promoted growth without body composition alteration and without increased insulin resistance in children with exclusive breastfeeding, when compared to children receiving a higher calorie formula, except for one article that observed an increase in fat mass in exclusively breastfed children. CONCLUSION: Breastfeeding seems to be a safe feeding practice for infants born at term and small for gestational age, showing no association with deleterious short-term outcomes. Breastfeeding stimulation in these populations seems to be a way of preventing the health problems associated with the high risk of chronic noncommunicable diseases and obesity.


Subject(s)
Breast Feeding , Infant, Small for Gestational Age , Metabolic Syndrome , Obesity , Child , Child Development , Feeding Behavior , Humans , Infant , Infant, Newborn , Time Factors
8.
AJP Rep ; 6(3): e299-300, 2016 Jul.
Article in English | MEDLINE | ID: mdl-27555980

ABSTRACT

There is little information about the congenital chikungunya virus (CHIKV) transmission. We describe two cases of well-documented congenital CHIKV infection in Salvador-Brazil, where CHIKV has been identified since 2014. The outbreak in the city led to the clinical CHIKV diagnoses of both pregnant women 2 days before delivery. Urine and blood samples from the mothers and newborns were collected and tested for reverse transcription-polymerase chain reaction (PCR) analysis for Zika, dengue, and CHIKV. Both neonates and mothers had positive urine and serum PCR results for CHIKV. The newborns had significant perinatal complications and were admitted to the neonatal intensive care unit. The purpose of our case report is to show how severe congenital CHIKV infection can be and the importance to include CHIKV infection in the differential diagnosis of neonatal sepsis when mothers have clinical signs of the disease and live in an affected area.

9.
Rev. bras. saúde matern. infant ; 11(4): 405-413, out.-dez. 2011. tab
Article in English | LILACS | ID: lil-611485

ABSTRACT

OBJECTIVES: to compare compliance with Steps 4 to 10 of The Steps to Successful Breastfeeding in two hospitals accredited by the Baby-Friendly Hospital Initiative (BFHI group) with two not yet accredited hospitals in Salvador. METHODS: a cross-sectional study was conducted with 100 women in BFHI-accredited hospitals and 103 women in non-BFHI-accredited hospitals by collecting data on their obstetric history, any breast feeding counseling received during antenatal care, and data on delivery and hospitalization. Data were obtained by applying questionnaires and reviewing patients' medical charts. The chi-square test was used for bivariate variables and Student's t test for continuous variables. RESULTS: statistically significant differences (p<0.05) were found between the BFHI-accredited group and the non-BFHI group with respect to steps 5 (77 percent vs 35.9 percent), 6 (81 percent vs 31 percent), 8 (77 percent vs 52.4 percent), and 9 (100 percent vs 94.2 percent). No differences were found between the two groups with respect to steps 4, 7 or 10. Satisfactory compliance with the requirements of the Baby-Friendly Hospital Initiative in BFHIaccredited hospitals was found only with respect to steps 6, 7 and 9. CONCLUSIONS: these results highlight the benefits of BFHI accreditation but emphasize the need for continuous and systematic evaluation in order to promote breastfeeding and provide support in BFHIaccredited maternity hospitals.


OBJETIVOS: comparar o cumprimento dos Passos de 4 a 10 dos Dez Passos para o Sucesso do Aleitamento Materno nos hospitais credenciados pela Iniciativa Hospital Amigo da Criança (grupo IHAC) em relação a hospitais não credenciados em Salvador. MÉTODOS: um estudo de corte transversal foi conduzido com 100 mulheres no grupo IHAC e 103 mulheres no grupo não-IHAC através de entrevista abordando história obstétrica, orientações sobre aleitamento materno durante o pré-natal, informações sobre o parto e internamento. A coleta de dados foi realizada através da aplicação de questionários e pesquisa de prontuários. O teste do quiquadrado foi realizado para variáveis dicotômicas e o t de Student para variáveis contínuas. RESULTADOS: diferença estatisticamente significante (p<0,05) foi encontrada entre os grupos IHAC e não-IHAC na avaliação dos passos 5 (77 por cento vs 35,9 por cento), 6 (81 por cento vs 31 por cento), 8 (77 por cento vs 52,4 por cento), e 9 (100 por cento vs 94,2 por cento). Não houve diferença entre os dois grupos na avaliação dos passos 4, 7 ou 10. O cumprimento satisfatório nos hospitais do grupo IHAC foi encontrado na avaliação dos Passos 6, 7 e 9. CONCLUSÕES: os resultados evidenciam os benefícios do credenciamento na IHAC, mas enfatiza a necessidade de avaliação contínua e sistemática da promoção e suporte ao aleitamento materno nos hospitais credenciados pela IHAC.


Subject(s)
Humans , Infant, Newborn , Infant , Breast Feeding , Cross-Sectional Studies , Health Promotion , Milk, Human , World Health Organization
10.
São Paulo; s.n; 2010. 110 p. ilus, tab, graf.
Thesis in Portuguese | LILACS | ID: lil-579450

ABSTRACT

A síndrome do desconforto respiratório (SDR) é causada pela deficiência transitória de surfactante pulmonar em recém-nascidos (RN) prematuros nos primeiros dias de vida. Estudos sugerem que a etiologia da SDR seja multifatorial e multigênica. A proteína B do surfactante (SP-B) é fundamental para o metabolismo do surfactante e para uma função pulmonar normal. A presença de polimorfismos e mutações em genes dos componentes do surfactante, particularmente no gene da SP-B, parece estar associada à SDR. Objetivos: Determinar a freqüência de polimorfismos do gene que codifica a proteína B do surfactante no DNA de recém nascidos pré-termo com e sem SDR, comparar as freqüências desses polimorfismos entre os dois grupos e avaliar se existe alguma relação entre sexo, raça e SDR. Casuística e Métodos: Foram incluídos no estudo 151 RNPT, sendo 79 sem SDR com idades gestacionais variando entre 29 semanas e 35 semanas e 6 dias e 72 RN pré-termo com SDR com idades gestacionais variando de 26 a 35 semanas. Foram analisados quatro polimorfismos: A/C no nucleotídeo - 18; C/T no nucleotídeo 1580; A/G no nucleotídeo 9306 e G/C no nucleotídeo 8714. Os polimorfismos foram determinados através da amplificação dos segmentos de DNA genômico por reação em cadeia da polimerase e posterior genotipagem. Os genótipos foram definidos através da análise dos produtos obtidos a partir de reações com enzimas de restrição [PCR-based converted restriction fragment length polymorphism (cRFLP)]. Resultados: O grupo Controle foi constituído por 79 RN pré-termo sem SDR; sendo 42 (53,2%) do sexo feminino e 37 (46,8%) do sexo masculino; 34 (43%) da raça negra, 16(20,3%) da raça branca e 29(36,7) de indivíduos pardos. O peso variou de 1170g a 3260 , e a idade gestacional variou de 29 semanas a 35 semanas e seis dias (média de 33 semanas e 6 dias).O grupo SDR foi composto por 72 RNPT, sendo que 31 (43%) do sexo feminino e 41 (57%) do sexo masculino; 31(43%) da raça negra, 16 (14%) da raça branca e 31...


The respiratory distress syndrome (RDS) is caused by surfactant transient deficiency in preterm babies soon after birht. Studies sugest that RDS etiology is multifactorial and multigenic. Surfactant protein B (SP-B) is essential for surfactant metabolism and fornormal lung function. Polymorphisms and mutations in the genes that encode the surfactant components, particularly the SP-B gene, have been associated to the pathogenesis of RDS. Aims: To analyze SP-B gene polimorfisms frequencies in preterm babies with RDS and healthy term newborns, to compare the polymorphisms frequencies between both groups and to evaluate if there are differences related to sex, race and RDS. Material and Methods: We included 151 neonates, 79 preterm babies without RDS and gestational ages ranging from 26 weeks to 35 weeks , and 72 preterm newborns with RDS, gestational ages ranging from 29 weeks to 35 weeks and 6 days. Four SP-B gene polymorphisms were analyzed: A/C at - 18, C/T at 1580; A/G at 9306 and G/C at nucleotide 8714. The polymorphisms were detected by PCR amplification of genomic DNA and genotyping. The genotypes were determined using PCR-based converted restriction fragment length polymorphism (cRFLP). Results: The control group comprised 79 preterm babies without RDS; 42(53,2%) were female and 37(46,8%) male; 34(43%) were black, 16(20,3) were Whites and 29(36.7%) non- Whites/non black. Weight ranged from 1.170g to 3.260g ; gestational age ranged from 29 weeks to 35 weeks and six days (mean 33 weeks and 6 days). The RDS group comprised 72 preterm neonates, 31(43%) female and 41(57%) male; 31(43%) were black, 16(14%) were Whites and 31(43%) non-Whites/non black. Weight ranged from 614g to 2.410g ; mean gestational age was 32 weeks (range, 26-35 weeks). The logistic regression model showed that gestational age was the variable that most contributed to the ocurrence of the respiratory distress syndrome and the AG genotype of the polymorphism A/G at 9306 was a protector...


Subject(s)
Humans , Infant, Newborn , Polymorphism, Genetic , Pulmonary Surfactant-Associated Protein B , Respiratory Distress Syndrome, Newborn
11.
Clinics (Sao Paulo) ; 62(2): 181-90, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17505704

ABSTRACT

Pulmonary surfactant is a substance composed of a lipoprotein complex that is essential to pulmonary function. Pulmonary surfactant proteins play an important role in the structure, function, and metabolism of surfactant; 4 specific surfactant proteins have been identified: surfactant proteins-A, surfactant proteins-B, surfactant proteins-C, and surfactant proteins-D. Clinical, epidemiological, and biochemical evidence suggests that the etiology of respiratory distress syndrome is multifactorial with a significant genetic component. There are reports about polymorphisms and mutations on the surfactant protein genes, especially surfactant proteins-B, that may be associated with respiratory distress syndrome, acute respiratory distress syndrome, and congenital alveolar proteinosis. Individual differences regarding respiratory distress syndrome and acute respiratory distress syndrome as well as patient response to therapy might reflect phenotypic diversity due to genetic variation, in part. The study of the differences between the allelic variants of the surfactant protein genes can contribute to the understanding of individual susceptibility to the development of several pulmonary diseases. The identification of the polymorphisms and mutations that are indeed important for the pathogenesis of the diseases related to surfactant protein dysfunction, leading to the possibility of genotyping individuals at increased risk, constitutes a new research field. In the future, findings in these endeavors may enable more effective genetic counseling as well as the development of prophylactic and therapeutic strategies that would provide a real impact on the management of newborns with respiratory distress syndrome and other pulmonary diseases.


Subject(s)
Mutation , Pulmonary Surfactant-Associated Proteins/genetics , Pulmonary Surfactants/metabolism , Respiratory Distress Syndrome, Newborn/genetics , Genetic Predisposition to Disease , Genetic Variation , Humans , Infant, Newborn , Polymorphism, Genetic , Pulmonary Alveolar Proteinosis/genetics , Pulmonary Alveolar Proteinosis/metabolism , Pulmonary Surfactant-Associated Protein A/deficiency , Pulmonary Surfactant-Associated Protein B/deficiency , Pulmonary Surfactant-Associated Protein C/deficiency , Pulmonary Surfactant-Associated Protein D/deficiency , Pulmonary Surfactant-Associated Proteins/metabolism , Respiratory Distress Syndrome, Newborn/metabolism
12.
Clinics ; 62(2): 181-190, Apr. 2007. ilus
Article in English | LILACS | ID: lil-449659

ABSTRACT

Pulmonary surfactant is a substance composed of a lipoprotein complex that is essential to pulmonary function. Pulmonary surfactant proteins play an important role in the structure, function, and metabolism of surfactant; 4 specific surfactant proteins have been identified: surfactant proteins-A, surfactant proteins-B, surfactant proteins-C, and surfactant proteins-D. Clinical, epidemiological, and biochemical evidence suggests that the etiology of respiratory distress syndrome is multifactorial with a significant genetic component. There are reports about polymorphisms and mutations on the surfactant protein genes, especially surfactant proteins-B, that may be associated with respiratory distress syndrome, acute respiratory distress syndrome, and congenital alveolar proteinosis. Individual differences regarding respiratory distress syndrome and acute respiratory distress syndrome as well as patient response to therapy might reflect phenotypic diversity due to genetic variation, in part. The study of the differences between the allelic variants of the surfactant protein genes can contribute to the understanding of individual susceptibility to the development of several pulmonary diseases. The identification of the polymorphisms and mutations that are indeed important for the pathogenesis of the diseases related to surfactant protein dysfunction, leading to the possibility of genotyping individuals at increased risk, constitutes a new research field. In the future, findings in these endeavors may enable more effective genetic counseling as well as the development of prophylactic and therapeutic strategies that would provide a real impact on the management of newborns with respiratory distress syndrome and other pulmonary diseases.


O surfactante pulmonar é uma substância composta por um complexo lipoprotéico essencial para a função pulmonar normal. As proteínas do surfactante têm importante papel na estrutura, função e metabolismo do surfactante. São descritas quatro proteínas específicas denominadas surfactante pulmonar-A, surfactante pulmonar-B, surfactante pulmonar-C e surfactante pulmonar-D. Evidências clínicas, epidemiológicas e bioquímicas sugerem que a etiologia da síndrome do desconforto respiratório é multifatorial com um componente genético significativo. Existem na literatura algumas descrições sobre a presença de polimorfismos e mutações em genes dos componentes do surfactante, particularmente no gene da surfactante pulmonar-B, os quais parecem estar associados à síndrome do desconforto respiratório, síndrome da angustia respiratória aguda e proteinose alveolar congênita. Diferenças individuais relacionadas à síndrome do desconforto respiratórioe síndrome da angustia respiratória aguda e à resposta dos pacientes ao tratamento podem refletir diversidade fenotípica, devido, parcialmente, à variação genética. O estudo das diferenças entre as variantes alélicas dos genes das proteínas do surfactante pode ajudar na compreensão das variabilidades individuais na susceptibilidade ao desenvolvimento de várias doenças pulmonares. A determinação de quais polimorfismos e mutações são, de fato, importantes na patogênese das doenças relacionadas à disfunção das proteínas do surfactante e a possibilidade da realização da genotipagem em indivíduos de alto risco constitui um novo campo de pesquisa, que pode permitir, futuramente, um aconselhamento genético mais efetivo, resultando no desenvolvimento de estratégias profiláticas e terapêuticas que representem um impacto real no manejo dos recém-nascidos portadores da síndrome do desconforto respiratório e outras patologias pulmonares.


Subject(s)
Humans , Infant, Newborn , Mutation , Pulmonary Surfactant-Associated Proteins/genetics , Pulmonary Surfactants/metabolism , Respiratory Distress Syndrome, Newborn/genetics , Genetic Predisposition to Disease , Genetic Variation , Polymorphism, Genetic , Pulmonary Alveolar Proteinosis/genetics , Pulmonary Alveolar Proteinosis/metabolism , Pulmonary Surfactant-Associated Protein A/deficiency , Pulmonary Surfactant-Associated Protein B/deficiency , Pulmonary Surfactant-Associated Protein C/deficiency , Pulmonary Surfactant-Associated Protein D/deficiency , Pulmonary Surfactant-Associated Proteins/metabolism , Respiratory Distress Syndrome, Newborn/metabolism
SELECTION OF CITATIONS
SEARCH DETAIL
...