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1.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1529044

RESUMO

La reducción del bajo peso al nacer es importante para obtener mejores resultados en la mortalidad infantil. Por eso nos planteamos el objetivo de: identificar los factores asociados con el riesgo de bajo peso al nacer, por su incremento en el municipio Río Cauto. Se realizó un estudio descriptivo de corte transversal, que incluyó a 51 gestantes que tuvieron recién nacidos con bajo peso al nacer de enero a diciembre del año 2022. Se utilizaron las variables: edad gestacional en el momento del parto, áreas de salud, peso de los nacidos vivos y por grupos de edad materna, paridad y patologías detectadas durante el embarazo. Hubo 528 nacidos vivos y 51 tuvieron un peso inferior a 2500 gramos, con un índice de (9.66 %); el parto pretérmino predominó en el Policlínico "Camilo Cienfuegos" con 5 neonatos (5.00 %) y el crecimiento intrauterino retardado en el Policlínico "Ernesto Guevara" con 14 nacimientos (9.03 %); el mayor por ciento de bajo peso ocurrió de 20 a 34 años de edad, 35 (68.63 %), donde sobresalió el policlínico "Máximo Gómez" con 18 (75 %). En los nacimientos por grupo de edades, el índice de bajo peso fue mayor en pacientes menores de 20 años, 14 (12.84 %). En el bajo peso predominaron: las nulíparas en 25 nacimientos (49.02 %), la anemia y embarazo 27 (52.94 %) y el síndrome de flujo vaginal 20 (39.22).


Summary Reducing low birth weight is important for better outcomes in infant mortality. That is why we set ourselves the objective of: identifying the factors associated with the risk of low birth weight, due to its increase in Río Cauto. A descriptive cross-sectional study was conducted, which included 51 pregnant women who had low birth weight newborns from January to December 2022. The following variables were used: gestational age at the time of delivery, health areas, live birth weight and maternal age groups, parity and pathologies detected during pregnancy. There were 528 live births and 51 had a weight of less than 2500 grams, with a rate of (9.66%); preterm delivery predominated at the Camilo Cienfuegos Polyclinic with 5 neonates (5.00%) and intrauterine growth retardation at the Ernesto Guevara Polyclinic with 14 births (9.03%); The highest percentage of underweight occurred between 20 and 34 years of age, 35 (68.63%), where the Máximo Gómez 18 polyclinic (75%) stood out. In births by age group, the rate of low birth weight was higher in patients under 20 years of age, 14 (12.84%). Nulliparous women predominated in 25 births (49.02%), anemia and pregnancy in 27 (52.94%), and vaginal discharge syndrome in 20 (39.22).


A redução do baixo peso ao nascer é importante para melhores desfechos na mortalidade infantil. Por isso, nos propusemos a identificar os fatores associados ao risco de baixo peso ao nascer, devido ao seu aumento no Rio Cauto. Foi realizado um estudo transversal descritivo, que incluiu 51 gestantes que tiveram recém-nascidos de baixo peso ao nascer no período de janeiro a dezembro de 2022. As seguintes variáveis foram utilizadas: idade gestacional no momento do parto, áreas de saúde, peso ao vivo e faixas etárias maternas, paridade e patologias detectadas durante a gestação. Foram 528 nascidos vivos e 51 com peso inferior a 2500 gramas, com taxa de (9,66%); predomínio de parto pré-termo na Policlínica Camilo Cienfuegos com 5 neonatos (5,00%) e retardo de crescimento intrauterino na Policlínica Ernesto Guevara com 14 nascimentos (9,03%); O maior percentual de baixo peso ocorreu entre 20 e 34 anos de idade, 35 (68,63%), onde se destacou a policlínica Máximo Gómez 18 (75%). Nos nascimentos por faixa etária, a taxa de baixo peso ao nascer foi maior nas pacientes com menos de 20 anos, 14 (12,84%). Nulíparas predominaram em 25 partos (49,02%), anemia e gravidez em 27 (52,94%) e síndrome do corrimento vaginal em 20 (39,22).

2.
Front Pediatr ; 10: 891343, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35601409

RESUMO

In this article we revised the literature on Inborn Errors of Immunity (IEI) keeping our focus on those diseases presenting with intrauterine or perinatal clinical manifestations. We opted to describe our findings according to the IEI categories established by the International Union of Immunological Societies, predominantly addressing the immunological features of each condition or group of diseases. The main finding is that such precocious manifestations are largely concentrated in the group of primary immune regulatory disorders (PIRDs) and not in the group of classical immunodeficiencies. The IEI categories with higher number of immunological manifestations in utero or in perinatal period are: (i) diseases of immune dysregulation (HLH, IPEX and other Tregopathies, autosomal recessive ALPS with complete lack of FAS protein expression) and (ii) autoinflammatory diseases (NOMID/CINCA, DIRA and some interferonopathies, such as Aicardi-Goutières syndrome, AGS, and USP18 deficiency). Regarding the other IEI categories, some patients with Omenn syndrome (an atypical form of SCID), and a few X-linked CGD patients present with clinical manifestations at birth associated to immune dysregulation. The most frequent clinical features were hydrops fetalis, intrauterine growth retardation leading to fetal loss, stillbirths, and prematurity, as in HLH and IPEX. Additionally, pseudo-TORCH syndrome was observed in AGS and in USP18 deficiency. The main goal of our review was to contribute to increasing the medical awareness of IEI with intrauterine and perinatal onset, which has obvious implications for diagnosis, treatment, and genetic counseling.

4.
Rev. Inst. Med. Trop ; 16(2)dic. 2021.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1387441

RESUMO

Resumen La restricción de crecimiento intrauterino es un problema de salud que aumenta su conocimiento en la población puede generar acciones en la salud pública, asimismo se asocia a mayor riesgo en adolescentes, a bajo nivel de instrucción, población marginal, bajo peso de la madre y de atención prenatal inadecuado, el objetivo de este trabajo fue la de analizar el diagnóstico prenatal del retraso de crecimiento intrauterino mediante la ecografía, en pacientes asistidas en el Hospital Regional de Ciudad del Este, año 2018, se realizó un estudio observacional descriptivo retrospectivo, la muestra de estudio estuvo constituida por 73 historia clínica de madres que presentaron restricción de crecimiento intrauterina diagnosticada por ecografía se consignaron en un formato de recolección de datos a través de la revisión de historias clínicas, se organizaron en una base de datos en Excel y se realizó un análisis descriptivo. El 41% de las madres presentaron edades entre 19 a 34 años, se observó mayor índice con el 64 con procedencia de zonas rurales respecto a las madres con procedencias de zonas urbanas, las mayorías de las madres presentaron un nivel secundario concluida, el 52% de las madres presentaron controles prenatales entre 0 a 5 controles, las madres con edad gestacional < 37 semanas tuvieron significativamente (p=0.000) mayor frecuencia recién nacido con retardo de crecimiento intrauterino, el 29% de las madres que tuvieron bajo peso presentaron recién nacidos con retardo de crecimiento intrauterino, 21 de las madres nulíparas presentaron recién nacidos con retardo de crecimiento intrauterino y el 44% de las madres con intervalo intergenésico menor de 2 años presentaron recién nacidos con retardo de crecimiento intrauterino, y el mayor índice de hijos con retardo de crecimientos intrauterina presentaron madres con una ganancia entre 6 a 9 Kg y se concluye que el retardo de crecimiento intrauterino tiene asociación con factores sociodemográficos y obstétricos, que algunos de ellos pueden ser intervenidos.


Abstract The restriction of intrauterine growth is a health problem that increases their knowledge in the population can generate actions in public health, it is also associated with increased risk in adolescents, at a low level of education, marginal population, low mother and child weight inadequate prenatal care, the objective of this work was to analyze the prenatal diagnosis of intrauterine growth retardation by ultrasound, in patients assisted in the Regional Hospital of Ciudad del Este, year 2018, a retrospective descriptive observational study was performed, the sample The study consisted of 73 clinical records of mothers who presented intrauterine growth restriction diagnosed by ultrasound were recorded in a data collection format through the review of medical records, they were organized in a database in Excel and a descriptive analysis showing the following results 41% of the madr es presented ages between 19 and 34 years old, a higher index was observed with 64 originating from rural areas with respect to mothers from urban areas, most of the mothers presented a completed secondary level, 52% of the mothers presented controls Prenatal between 0 and 5 controls, mothers with gestational age <37 weeks had significantly (p = 0.000) higher frequency newborn with intrauterine growth retardation, 29% of mothers who were underweight presented newborns with intrauterine growth retardation , 21 of the nulliparous mothers presented newborns with intrauterine growth retardation and 44% of the mothers with intergenic interval less than 2 years presented newborns with intrauterine growth retardation, and the highest rate of children with intrauterine growth retardation presented mothers with a gain between 6 to 9 Kg and it is concluded that the intrauterine growth retardation tie Ne association with sociodemographic and obstetric factors, which some of them can be intervened.

5.
Multimed (Granma) ; 25(4): e1562, 2021. tab
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1287426

RESUMO

RESUMEN Introducción: la reducción del bajo peso al nacer constituye una prioridad en el país por ser determinante para disminuir la mortalidad infantil. Objetivo: determinar los principales factores de riesgo asociados al bajo peso al nacer Guisa, Granma. Métodos: se realizó un estudio descriptivo de corte transversal, incluyó a 37 gestantes que aportaron los nacimientos con bajo peso en el periodo de estudio. Se analizaron las variables edad materna, evaluación nutricional al inicio del embarazo, edad gestacional al momento del parto, tipo de bajo peso, antecedentes personales y enfermedades asociadas al embarazo. Resultados: se produjeron 511 nacimientos, 37 mostraron un peso inferior a 2500 g. El mayor número de nacimientos ocurrió en edades fértiles de la vida, predominando la evaluación nutricional normopeso al inicio del embarazo. La edad gestacional entre 37-42 semanas fueron las que más aportaron bajo peso, no ocurrieron nacimientos en gestantes con menos de 32 semanas. Predominaron los crecimientos intrauterinos restringidos. Entre los antecedentes patológicos resalta, la hipertensión arterial, seguida por el asma bronquial, la anemia ligera. Conclusiones: el bajo peso al nacer es un problema de salud en el municipio Guisa y por consiguiente su influencia negativa sobre la calidad de vida de los infantes. Las edades extremas no resultaron factores de incidencia en el bajo peso al nacer al igual que el estado nutricional. Las principales causales son el crecimiento intrauterino restringido y el parto pretérmino. La identificación precoz de los factores de riesgo y la adopción de medidas efectivas permitirá disminuir la incidencia de estas causas.


ABSTRACT Introduction: reducing low birth weight is a priority in the country as it is decisive for reducing infant mortality. Objective: to determine the main risk factors associated with low birth weight Guisa, Granma. Methods: a descriptive cross-sectional study was carried out, it included 37 pregnant women who provided births with low birth weight in the study period. The variables maternal age, nutritional evaluation at the beginning of pregnancy, gestational age at delivery, type of low weight, personal history and diseases associated with pregnancy were analyzed. Results: there were 511 births, 37 showed a weight less than 2500 g. The highest number of births occurred in fertile ages of life, predominating the normal weight nutritional assessment at the beginning of pregnancy. Gestational ages between 37-42 weeks were the ones that contributed the most to low weight, there were no births in pregnant women with less than 32 weeks. Restricted intrauterine growths predominated. Among the pathological antecedents, arterial hypertension stands out, followed by bronchial asthma, mild anemia. Conclusions: low birth weight is a health problem in the Guisa municipality and therefore its negative influence on the quality of life of infants. Extreme ages were not factors of incidence in low birth weight as well as nutritional status. The main causes are restricted intrauterine growth and preterm delivery. The early identification of risk factors and the adoption of effective measures will reduce the incidence of these causes.


RESUMO Introdução: a redução do baixo peso ao nascer é uma prioridade no país, pois é decisiva para a redução da mortalidade infantil. Objetivo: determinar os principais fatores de risco associados ao baixo peso ao nascer Guisa, Granma. Métodos: foi realizado um estudo transversal descritivo, com 37 gestantes que realizaram partos com baixo peso ao nascer no período do estudo. Foram analisadas as variáveis ​​idade materna, avaliação nutricional no início da gestação, idade gestacional no parto, tipo de baixo peso, antecedentes pessoais e doenças associadas à gravidez. Resultados: ocorreram 511 nascimentos, 37 apresentavam peso inferior a 2.500 g. O maior número de nascimentos ocorreu em idades férteis de vida, predominando a avaliação nutricional de peso normal no início da gestação. As idades gestacionais entre 37-42 semanas foram as que mais contribuíram para o baixo peso, não ocorrendo partos em gestantes com menos de 32 semanas. Predominaram crescimentos intrauterinos restritos. Dentre os antecedentes patológicos, destaca-se a hipertensão arterial, seguida da asma brônquica, anemia leve. Conclusões: o baixo peso ao nascer é um problema de saúde no município de Guisa e, portanto, influencia negativamente na qualidade de vida dos lactentes. As idades extremas não foram fatores de incidência no baixo peso ao nascer, bem como no estado nutricional. As principais causas são o crescimento intrauterino restrito e o parto prematuro. A identificação precoce dos fatores de risco e a adoção de medidas eficazes irão reduzir a incidência dessas causas.

6.
Rev. bras. ginecol. obstet ; Rev. bras. ginecol. obstet;42(5): 289-296, May 2020. graf
Artigo em Inglês | LILACS | ID: biblio-1137828

RESUMO

Abstract Intrauterine growth restriction (IUGR) is associated with poor perinatal prognosis and a higher risk of stillbirth, neonatal death, and cerebral palsy. Its detection and the evaluation of its severity by new Doppler velocimetric parameters, such as aortic isthmus (AoI), are of great relevance for obstetrical practice. The AoI is a vascular segment that represents a point of communication between the right and left fetal circulations. It is considered to be a functional arterial shunt that reflects the relationship between the systemic and cerebral impedances, and has recently been proposed as a tool to detect the status of hemodynamic balance and prognosis of IUGR in fetuses. In the present review, we noticed that in healthy fetuses, the AoI net flow is always antegrade, but in fetuses with IUGR the deterioration of placental function leads to progressive reduction in its flow until it becomes mostly retrograde; this point is associated with a drastic reduction in oxygen delivery to the brain. The more impaired the AoI flow is, the greater is the risk of impairment in the Doppler velocimetry of other vessels; and the alterations of the AoI Doppler seem to precede other indicators of severe hypoxemia. Although there seems to be an association between the presence of retrograde flow in the AoI and the risk of long-term neurologic disability, its role in the prediction of perinatal morbi-mortality remains unclear. The AoI Doppler seems to be a promising tool in the management of fetuses with IUGR, but more studies are needed to investigate its employment in clinical practice.


Resumo O crescimento intrauterino restrito (CIUR) está associado a um prognóstico perinatal adverso, com maior risco de óbito intrauterino e neonatal, bem como de paralisia cerebral. Assim, sua detecção e a determinação de sua gravidade por novos parâmetros Dopplervelocimétricos, como o istmo aórtico (IAo), são de fundamental importância na prática obstétrica. O IAo é um segmento vascular que representa um ponto de comunicação entre os sistemas circulatórios fetais esquerdo e direito. É considerado um shunt arterial funcional, capaz de refletir a relação entre as impedâncias dos circuitos cerebral e sistêmico, e foi proposto como uma ferramenta para detecção do status do equilíbrio hemodinâmico e do prognóstico de fetos com CIUR. Na presente revisão, observou-se que, em fetos saudáveis, o fluxo predominante no IAo é sempre anterógrado; mas em fetos com CIUR a deterioração do estágio de insuficiência placentária acarreta reduções progressivas no fluxo ístmico até este apresentar sentido predominantemente retrógrado e levar a uma drástica redução no aporte de oxigênio ao sistema nervoso central. Quanto mais alterado estiver o fluxo no IAo, maior a chance de haver alteração na Dopplervelocimetria de outros vasos; e as alterações no Doppler do IAo parecem preceder outros indicadores de hipoxemia severa. Embora o fluxo retrógrado no IAo pareça se correlacionar com maior risco de alteração no desenvolvimento neurológico a longo prazo, ainda não está claro o seu papel na predição de morbimortalidade perinatal. O Doppler do IAo parece ser um parâmetro promissor no manejo do CIUR; entretanto, mais estudos são necessários para avaliar seu emprego na prática clínica.


Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Aorta Torácica/diagnóstico por imagem , Ultrassonografia Pré-Natal , Retardo do Crescimento Fetal/diagnóstico por imagem , Feto/diagnóstico por imagem , Aorta Torácica/fisiopatologia , Velocidade do Fluxo Sanguíneo , Ultrassonografia Doppler , Retardo do Crescimento Fetal/fisiopatologia , Feto/irrigação sanguínea
7.
J Pediatr ; 215: 192-198, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31630891

RESUMO

OBJECTIVE: To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. STUDY DESIGN: For whole exome sequencing analysis, we selected 44 children born small for gestational age with persistent short stature, and additional features, such as dysmorphic face, major malformation, developmental delay, and/or intellectual disability. Seven patients had negative candidate gene testing based on clinical suspicion and 37 patients had syndromic conditions of unknown etiology. RESULTS: Of the 44 patients, 15 (34%) had pathogenic/likely pathogenic variants in genes already associated with growth disturbance: COL2A1 (n = 2), SRCAP (n = 2), AFF4, ACTG1, ANKRD11, BCL11B, BRCA1, CDKN1C, GINS1, INPP5K, KIF11, KMT2A, and POC1A (n = 1 each). Most of the genes found to be deleterious participate in fundamental cellular processes, such as cell replication and DNA repair. CONCLUSIONS: The rarity and heterogeneity of syndromic short stature make the clinical diagnosis difficult. Whole exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic short stature.


Assuntos
Nanismo/genética , Sequenciamento do Exoma , Anormalidades Múltiplas/genética , Actinas/genética , Adenosina Trifosfatases/genética , Proteínas de Ciclo Celular/genética , Criança , Inibidor de Quinase Dependente de Ciclina p57/genética , Proteínas do Citoesqueleto/genética , Proteínas de Ligação a DNA/genética , Histona-Lisina N-Metiltransferase/genética , Humanos , Recém-Nascido Pequeno para a Idade Gestacional , Cinesinas/genética , Masculino , Mutação , Proteína de Leucina Linfoide-Mieloide/genética , Fosfatidilinositol-3,4,5-Trifosfato 5-Fosfatases/genética , Estudos Prospectivos , Proteínas Repressoras/genética , Fatores de Elongação da Transcrição/genética , Proteínas Supressoras de Tumor/genética , Ubiquitina-Proteína Ligases/genética
8.
Rev. medica electron ; 40(3): 784-789, may.-jun. 2018. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-961249

RESUMO

RESUMEN El síndrome Russell Silver es una enfermedad genética de baja frecuencia, caracterizada por retardo del crecimiento prenatal y postnatal, dismorfias faciales y digitales, así como asimetría corporal. Se presenta una paciente femenina de dos años de edad, remitida a consulta de Genética Clínica, por retardo en el desarrollo pondoestatural psicomotor, dismorfias faciales y asimetría corporal. Se realizño el diagnóstico clínico de esta afección. Es importante establecer un diagnóstico precoz para la estimulación temprana, seguimiento multidisciplinario y se brindó un adecuado asesoramiento genético a los familiares (AU).


ABSTRACT The Russell-Silver syndrome is a low-frequency genetic disease, characterized by a pre-natal growth retardation and postnatal digital and facial dysmorphia, and also body asymmetry. We present a female patient, aged 2 years, who was remitted to the consultation of Clinical Genetics because of a retardation in the psychomotor, height-weight development, facial dysmorphia and body asymmetry. The disease was clinically diagnosed. It is important to arrive to a precocious diagnosis for the early stimulation, multidisciplinary follow-up and adequate genetic advice to the relatives (AU).


Assuntos
Humanos , Feminino , Pré-Escolar , Síndrome de Silver-Russell/diagnóstico , Doenças Genéticas Inatas , Qualidade de Vida , Intervenção Educacional Precoce , Cuba , Insuficiência de Crescimento , Serviços de Saúde
9.
Int J Gynaecol Obstet ; 143(1): 77-83, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29149538

RESUMO

OBJECTIVE: To evaluate whether psychologic intimate partner violence (IPV) during pregnancy is a risk factor for intrauterine growth restriction (IUGR). METHODS: The cross-sectional study enrolled randomly selected mothers of infants younger than 5 months attending basic health services in Rio de Janeiro, Brazil, from January to July 2007. Psychologic and physical IPV were evaluated by the Revised Conflict Tactics Scale; IUGR was defined as below the 10th percentile of the Alexander curve. Socioeconomic status, housing conditions, stressful events, life habits, social support, and medical information were obtained by interview or from medical records. Multivariate hierarchical logistic regression models, taking into account potential confounders, were used to evaluate the relationship between mounting acts of psychologic IPV and IUGR. RESULTS: There were 810 women included in the study. Psychologic IPV during pregnancy was reported by 665 women (82.1%) and 126 newborns (15.6%) showed growth restriction. In the final model, each 1-unit increase in psychologic IPV score during pregnancy led to a 15% higher risk of IUGR at birth (odds ratio 1.15; P<0.001). CONCLUSION: Psychologic IPV during pregnancy seems to be a significant and independent risk factor for IUGR. This finding reinforces the importance of preventive and intervention procedures for IPV to reduce adverse perinatal outcomes.


Assuntos
Retardo do Crescimento Fetal/epidemiologia , Violência por Parceiro Íntimo/psicologia , Apoio Social , Adulto , Brasil/epidemiologia , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Razão de Chances , Gravidez , Fatores de Risco , Adulto Jovem
10.
Ginecol. obstet. Méx ; Ginecol. obstet. Méx;86(1): 70-83, feb. 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-975404

RESUMO

Resumen OBJETIVOS: Describir las características clínicas y las repercusiones perinatales de la displasia mesenquimal de placenta. MÉTODO: Revisión sistemática de la bibliografía disponible en las bases PubMed, EMBASE y Scopus en donde se buscaron los términos "displasia mesenquimal de placenta" y "pseudomola parcial". Criterios de inclusión: artículos de casos o series que contuvieran los apartados de diagnóstico histológico confirmado y reporte de al menos 75% de los datos clínicos establecidos. Como ejemplo se comunica un caso clínico de los autores. RESULTADOS: Se encontraron 202 artículos, casi todos de casos clínicos o series de casos. Se descartaron los duplicados y los que no cumplieron los criterios de inclusión; finalmente la serie quedó formada por 88 publicaciones con 104 casos clínicos. CONCLUSIONES: La displasia mesenquimal de placenta es una anomalía poco conocida, infradiagnosticada y poco publicada. En la ecografía simula una mola parcial, casi siempre con un cariotipo fetal diploide y altas concentraciones de alfafetoproteína. Es frecuente su asociación con prematurez, rotura prematura de membranas, retraso del crecimiento intrauterino, malformaciones fetales, síndrome de Beckwith-Wiedemann y muerte perinatal.


Abstract OBJECTIVES: To describe the clinical characteristics and perinatal outcomes of placental mesenchymal dysplasia. MATERIALS AND METHODS: Systematic review of the medical literature under the terms "placental mesenchymal dysplasia", "partial pseudomole". Inclusion criteria for the review were: confirmed histological diagnosis and presence of at least 75% of established clinical data. The systematic review was performed by searching for cases or series published in PubMed, EMBASE, Scopus databases. We present 1 clinical case of our institution. RESULTS: A total of 202 articles were found, most of them corresponding to clinical cases or case series. Duplicates were discarded and those that did not meet inclusion criteria were excluded. Finally, the series consisted of 88 publications with 104 clinical cases. CONCLUSIONS: Placental mesenchymal dysplasia is a poorly understood, underdiagnosed, and poorly published clinical entity. Placental mesenchymal dysplasia echocardiography simulates a partial spring, but usually presents a diploid fetal karyotype and elevated levels of alpha-fetoprotein. It is frequently associated with prematurity, premature rupture of membranes, intrauterine growth retardation, fetal malformations, Beckwith-Wiedemann syndrome and perinatal death.

11.
Int J Mol Sci ; 18(10)2017 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-28981462

RESUMO

Epigenetic mechanisms play an important role in the regulation of the Growth Hormone- Insulin-like Growth Factor 1 (GH-IGF1) axis and in processes for controlling long bone growth, and carbohydrate and lipid metabolism. Improvement of methodologies that allow for the assessment of epigenetic regulation have contributed enormously to the understanding of GH action, but many questions still remain to be clarified. The reversible nature of epigenetic factors and, particularly, their role as mediators between the genome and the environment, make them viable therapeutic target candidates. Rather than reviewing the molecular and epigenetic pathways regulated by GH action, in this review we have focused on the use of epigenetic modulators as potential drugs to improve the GH response. We first discuss recent progress in the understanding of intracellular molecular mechanisms controlling GH and IGF-I action. We then emphasize current advances in genetic and epigenetic mechanisms that control gene expression, and which support a key role for epigenetic regulation in the cascade of intracellular events that trigger GH action when coupled to its receptor. Thirdly, we focus on fetal programming and epigenetic regulation at the IGF1 locus. We then discuss epigenetic alterations in intrauterine growth retardation, and the possibility for a potential epigenetic pharmaceutical approach in short stature associated with this fetal condition. Lastly, we review an example of epigenetic therapeutics in the context of growth-related epigenetic deregulation disorders. The advance of our understanding of epigenetic changes and the impact they are having on new forms of therapy creates exciting prospects for the future.


Assuntos
Epigênese Genética/genética , Hormônio do Crescimento/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Animais , Feminino , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/metabolismo , Hormônio do Crescimento/genética , Humanos , Fator de Crescimento Insulin-Like I/genética , Gravidez
12.
J Matern Fetal Neonatal Med ; 30(2): 155-158, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26957192

RESUMO

OBJECTIVE: To determine the 3rd, 10th, 50th, 90th and 97th percentile of weight, length and head circumference (HC) of male and female neonates born at 3400 m above sea level and compare with published INTERGROWTH 21st standards. METHODS: Observational, transverse analytical study conducted in the National Hospital Adolfo Guevara Velazco of the ESSALUD hospital system in Cusco, Peru, at 3400 m altitude, during the period of January 2005 to December 2010. Using inclusion criteria, 7635 newborns were selected. The 3rd, 10th, 50th, 90th and 97th percentiles for the anthropometric measurements of birthweight, length and HC were determined for each sex and the results analyzed via polynomial regression for each percentile in order to compare the results with INTERGROWTH 21st standards. RESULTS: No statistically significant difference was observed with the exception of female HC at the 97th percentile when compared with the INTERGROWTH 21st standards. CONCLUSIONS: Based on tables generated in the present study, neonatal anthropometric percentiles at term at 3400 m above sea level demonstrate no appreciable difference with INTERGROWTH 21st standards with the exception of female HC at the 97th percentile.


Assuntos
Altitude , Antropometria , Desenvolvimento Fetal/fisiologia , Cabeça/anatomia & histologia , Adolescente , Adulto , Peso ao Nascer , Estatura , Cefalometria , Feminino , Humanos , Recém-Nascido , Masculino , Peru , Gravidez , Valores de Referência , Estudos Retrospectivos , Fatores Sexuais , Nascimento a Termo , Adulto Jovem
13.
Rev. chil. obstet. ginecol ; 81(2): 126-129, abr. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-780547

RESUMO

El trombohematoma subcoriónico masivo o Mola de Breus, por ser éste el autor que lo describió por primera vez en abortos, es un hematoma subcorial de al menos 1 cm de grosor que ocupa al menos, el 50% de la superficie fetal. Suele asociar una alta morbimortalidad fetal y perinatal, en forma de abortos, retraso del crecimiento intrauterino, muerte intrauterina, desprendimiento de placenta normalmente inserta y recién nacidos de bajo peso, generalmente pretérminos. Esta entidad debe diferenciarse de otros procesos que pueden asentar bajo la placa corial, hacia la superficie fetal como: corioangioma, depósitos de fibrina y trombosis del espacio intervelloso. Se han intentado postular mecanismos que pudieran causar dicha circunstancia, sin que por el momento podamos definir factores de riesgo médicos que claramente predispongan a padecer esta entidad. El objetivo de describir estos dos casos clínicos diagnosticados en 2013 es resaltar que, gracias a la sospecha ecográfica de un trombohematoma subcoriónico masivo, podemos estudiar la pieza de placenta y membranas tras la finalización de la gestación, con lo que obtendríamos así la confirmación anátomo-patológica, de otra manera esta información podría perderse.


The massive subchorionictrombo hematoma or Breus's Mola, this was the author who first described it in miscarriages, is a subchorionic hematoma at least 1 cm in thickness which occupies at least 50% of the fetal surface. Usually associated with high fetal and perinatal morbidity and mortality, as miscarriages, intrau-terine growth retardation, stillbirth, placental abruption and low birth weight, preterm generally. This entity should be distinguished from other processes that can seat under the chorionic plate to the fetal surface as chorioangioma, fibrin deposition and thrombosis intervillous space. They have tried to apply mechanisms that could cause such a circumstance, but for now we don't define medical risk factors that predispose clearly suffer from this entity. In order to describe these two cases diagnosed in 2013 is to emphasize that thanks to the sonographic suspicion of a massive subchorionic trombohematoma, can study the piece of placenta and membranes after the end of pregnancy, so it would provide pathologic confirmation, otherwise this information could be lost.


Assuntos
Humanos , Feminino , Gravidez , Adulto , Doenças Placentárias/diagnóstico por imagem , Trombose/diagnóstico por imagem , Hematoma/diagnóstico por imagem , Trombose/complicações , Aborto Espontâneo , Ultrassonografia Pré-Natal , Retardo do Crescimento Fetal/etiologia , Retardo do Crescimento Fetal/diagnóstico por imagem , Hematoma/complicações
14.
Rev. bras. saúde mater. infant ; 15(4): 441-446, out.-dez. 2015. graf
Artigo em Espanhol | LILACS, BVSAM | ID: lil-770027

RESUMO

La deficiencia de antitrombina III hereditaria es una rara enfermedad que afecta al 0.02-0.2 por cento de la población. Puede presentar mayor frecuencia de complicaciones y resultados adversos tanto en la madre como en el feto. Se presenta el manejo obstétrico de dos gestaciones consecutivas en una mujer con deficiencia de antitrombina III. Descripción: en ambos embarazos la madre realiza profilaxis de la enfermedad tromboembólica con heparina de bajo peso molecular para evitar la aparición de esta patología tanto en el embarazo como en el puerperio y mejorar el flujo útero-placen-tario. Con respecto a las complicaciones obstétricas, sólo existe un enlentecimiento del crecimiento fetal que obliga a un control obstétrico estricto. En ambas gestaciones los estudios eco-Doppler están dentro de la normalidad lo que permite una conducta expectante, consiguiendo llegar a término. Discusión: la profilaxis con heparina de bajo peso molecular en las gestantes con esta trombofilia y las intervenciones preventivas de factores de riesgo de enfermedad tromboembólica, junto con un control obstétrico adecuado, ha conseguido evitar la apari-ción de complicaciones derivadas de esta patología en el embarazo y en el puerperio. Por otra parte, el control del crecimiento fetal y el estudio Eco-Doppler han permitido asegurar el bienestar fetal no adelan-tando el parto, consiguiendo partos a término...


Hereditary antithrombin III deficiency is a rare disease that affects 0.02-0.2 percent of the population. It may be associated with a higher rate of complications and adverse outcomes in both mother and fetus. The present study describes the management of a woman with antithrombin III deficiency and two consecutive pregnancies. Description: in both pregnancies, the woman under went prophylaxis with low molecular weigh heparin, to prevent thromboembolic disease and improve the utero-placental flow during pregnancy and the postpartum period. The only obstetric compli-cation was fetal growth retardation requiring strict obstetric control. In these two cases the eco-Doppler studies offeto-placentalflow were normal, leading to the expectation of managing a term birth. Discussion: low molecular weigh heparin prophylaxis in pregnant women with thrombophilia and preventive interventions for risk factors for throm-boembolic disease, together with appropriate obstetric care managed to avoid the emergence of complications of this disease in pregnancy and puer-perium. Fetal growth control and a Doppler study also help to ensure the well-being of the fetus and avoid a preterm birth...


Assuntos
Humanos , Feminino , Gravidez , Deficiência de Antitrombina III/prevenção & controle , Gravidez de Alto Risco , Retardo do Crescimento Fetal , Tromboembolia Venosa/prevenção & controle
15.
Artigo em Espanhol | LILACS-Express | LILACS, LIPECS | ID: biblio-1522611

RESUMO

Objetivo: Evaluar los índices y velocidades de la arteria uterina como indicadores de hipoperfusión uterina en gestantes con restricción del crecimiento intrauterino. Diseño: Estudio analítico, de casos y controles. Institución: Hospital III Honorio Delgado de Arequipa, Perú. Participantes: Treinta gestantes con restricción del crecimiento intrauterino (RCIU) con peso del recién nacido menor al percentil 10; el grupo control estuvo conformado por 80 gestantes normales en el tercer trimestre. Metodología: Entre Julio del 2013 y abril del 2014 se realizó ecografía Doppler de las arterias uterinas en las gestantes que participaron del estudio, se calculó los índices y velocidades de las arterias uterinas, se comparó las medias y se hizo pruebas de validez diagnóstica de RCIU. Principales medidas de resultados: índices y velocidades de las arterias uterinas. Resultados: La media de la edad gestacional para los grupos de RCIU y control fueron 35,7 y 36,2 semanas, respectivamente. La media del peso de los RN con RCIU fue 1 932,60 g. La velocidad media (MnV) presentó sensibilidad 73%, especificidad 95%, valor predictivo positivo (VPP) 85%, valor predictivo negativo (VPN) 90%, odds ratio (OR) 52 Y razón de verosimilitud de 14,6. Los índices de pulsatilidad (IP) y de resistencia (IR) mostraron sensibilidad de 27%, especificidad 95%, VPP 67%, VPN 78%, OR 6,9 Y razón de verosimilitud 5,3. Conclusiones: Las velocidades y especialmente la velocidad media de la arteria uterina tuvieron mejor sensibilidad, VPP, VNP, OR y razón de verosimilitud que los índices, como indicadores de hipoperfusión uterina en gestantes con restricción del crecimiento intrauterino.


Objectives: To assess indexes and velocities of the uterine artery as indicators of uterine hypoperfusion in pregnant women with intrauterine growth restriction. Design: Case-control study. Setting: Hospital III Honorio Delgado, Arequipa, Peru. Participants: Thirty pregnant women with intrauterine growth restriction (IUGR) confirmed birthweight below the 10th percentile; the control group included 80 normal pregnant women in the third trimester. Methods: Between [uly 2013 and April 2014 Doppler ultrasound of the uterine arteries was performed in pregnant women participating in the study and uterine arteries indexes and velocities were calculated; media were compared and RCIU diagnosis validity tests were performed. Main outcome measures: Calculation of indexes and velocities of the uterine arteries. Results: Mean gestational age for the IUGR and control groups were respectively 35.7 and 36.2 weeks. IUGR newborns average weight was 1 932.60 g. Mean velocity (MnV) had sensitivity of 73%, specificity 95%, positive predictive value (PPV) 85%, negative predictive value (NPV) 90%, odds ratio (OR) 52 and likelihood ratio (LR) 14.6. Pulsatility index (PI) and resistance index (RI) showed sensitivity 27%, specificity 95%, PPV 67%, NPV 78%, OR 6.9, and LR 5.3. Conclusions: The uterine arteryvelocities and especially mean velocity showed better sensitivity, PPV, NPV, odds ratio and likelihood ratio than indexes as indicators of uterine hypoperfusion in pregnant women with intrauterine growth restriction.

16.
Rev. bras. reprod. anim ; 39(1): 123-128, jan. -mar. 2015.
Artigo em Português | VETINDEX | ID: biblio-1492153

RESUMO

O presente artigo teve por objetivo revisar o papel da endometrose no ambiente uterino e seus efeitos sobre o potencial atlético dos potros gerado neste ambiente. Possibilidades de tratamento para a endometrose, como a terapia celular e a utilização da transferência de embriões são discutidos.


This paper aimed to review the role of endometrosis in the uterine environmentand its effects on the athletic potential of foals generated in this environment. Possibilities for treatment, such as cell therapy and the use of embryo transfer are discussed.


Assuntos
Feminino , Animais , Gravidez , Cavalos/anatomia & histologia , Cavalos/anormalidades , Cavalos/embriologia , Útero/anormalidades
17.
R. bras. Reprod. Anim. ; 39(1): 123-128, jan. -mar. 2015.
Artigo em Português | VETINDEX | ID: vti-12840

RESUMO

O presente artigo teve por objetivo revisar o papel da endometrose no ambiente uterino e seus efeitos sobre o potencial atlético dos potros gerado neste ambiente. Possibilidades de tratamento para a endometrose, como a terapia celular e a utilização da transferência de embriões são discutidos.(AU)


This paper aimed to review the role of endometrosis in the uterine environmentand its effects on the athletic potential of foals generated in this environment. Possibilities for treatment, such as cell therapy and the use of embryo transfer are discussed.(AU)


Assuntos
Animais , Feminino , Gravidez , Útero/anormalidades , Cavalos/anormalidades , Cavalos/anatomia & histologia , Cavalos/embriologia
19.
Rev. cuba. invest. bioméd ; 33(2): 161-167, abr.-jun. 2014. tab
Artigo em Espanhol | LILACS, CUMED | ID: lil-735328

RESUMO

INTRODUCCIÓN: el bajo peso resultante del crecimiento intrauterino retardado (CIUR), puede inducir modificaciones funcionales renales que condicionen la aparición de Hipertensión Arterial. OBJETIVO: valorar la presión arterial en niños normotensos con antecedentes personales de bajo peso al nacer por CIUR. MÉTODOS: estudiamos la creatinina plasmática, filtración glomerular y presión arterial en 19 niños normotensos, con antecedentes de bajo peso al nacer por CIUR (Grupo 1 CIUR) y sus controles (Grupo 2 Controles), todos entre 4 y 5 años de edad. RESULTADOS: encontramos en los del Grupo 1 menor concentración de creatinina plasmática (0,691 vs 0,751) con una (p=0,001*) y similares valores de presión arterial (80.0 vs 78.5) y de intensidad de filtración glomerular (86,1 vs 83,4) con (p<0.05). CONCLUSIONES: no puede descartarse la existencia de modificaciones funcionales renales previas a las etapas estudiadas.


INTRODUCTION: Low birth weight due to intrauterine growth retardation (IUGR) may induce renal function modifications leading to arterial hypertension. OBJECTIVE: Assess blood pressure in normotensive children with a personal history of low birth weight due to IUGR. METHODS: A study was conducted of plasma creatinine, glomerular filtration and blood pressure in 19 normotensive children aged 4-5 years with a history of low birth weight due to IUGR (Group 1: IUGR) and their controls (Group 2: Controls). RESULTS: A lower plasma creatinine concentration was found in Group 1 (0.691 vs. 0.751) with p=0.001*, whereas similar values were found for blood pressure (80.0 vs. 78.5) and glomerular filtration intensity (86.1 vs. 83.4) with p<0.05. CONCLUSIONS: Renal function modifications occurring before the study period may not be discarded.


Assuntos
Creatinina , Retardo do Crescimento Fetal/epidemiologia , Hipertensão/etiologia , Consentimento Livre e Esclarecido
20.
Int. j. morphol ; 31(4): 1301-1308, Dec. 2013. ilus
Artigo em Espanhol | LILACS | ID: lil-702309

RESUMO

El objetivo del trabajo fue realizar una evaluación morfológica externa de recién nacidos (RN) y lactantes con diagnóstico de defectos de tubo neural (DTN) y labio hendido c/s paladar hendido (LH c/s PH) para determinar el tipo de defecto, ubicación, extensión, clasificación y evaluar la proporción de RN con retardo del crecimiento intauterino (RCIU) y lactantes desnutridos. Estudio descriptivo. Se estudiaron 36 niños desde su nacimiento hasta los 12 meses de edad; 20 con DTN y 16 con LH c/s PH. El estudio se realizó en cinco hospitales de la ciudad de Chihuahua, México. Se hizo una evaluación morfológica externa y antropometría de los niños. Los DTN se clasificaron como lesiones abiertas y cerradas, como defectos altos o bajos, según el modelo de sitios múltiples y por la CIE-10. Los LH c/s PH se clasificaron como unilaterales o bilaterales, completos e incompletos y como aislados o múltiples. Se determinó RCIU en los RN y desnutrición en los lactantes. El análisis estadístico se realizó con el paquete STATA 8.0 para Windows. Se estudiaron 20 casos de DTN; 3 lactantes y 17 RN. De LH c/s PH fueron 8 lactantes y 8 RN. En cuanto a los DTN, 60 por ciento fueron mielomeningocele y correspondían a lesiones abiertas. El 85 por ciento se localizaron a nivel alto. En el modelo de cierres múltiples, el Z1 fue el 80 por ciento. Los LH c/s PH más frecuentes fueron aquellos con hendidura completa (50 por ciento). El 35 por ciento de los RN con DTN tuvieron RCIU y el 67 por ciento de los lactantes presentaron desnutrición. Es importante conocer los mecanismos del desarrollo de las anomalías congénitas ya que esto permite precisar el momento en que ocurrió la falla y permite estudiar los factores predisponentes, con lo cual se puede ofrecer asesoramiento genético para una posible prevención.


The objective of this study was to perform an external morphological evaluation of newborn (NB) and lactating children (LC) with diagnosis of neural tube defects (NTD) and cleft lip c/s palate (CL/s PH) to determine the type of defect, location, extent, classification and assess the proportion of infants with intrauterine growth retardation (IUGR) and malnourished infants. A descriptive study in 36 children from birth to 12 months of age , 20 with NTD and 16 with LH c / s PH was carried out. The study was conducted in five hospitals in the city of Chihuahua, Mexico. An external morphological assessment and anthropometry of children were performed. The DTN lesions were classified as open and closed, as defects high or low, depending on the model of multiple sites and ICD-10. The LH c / s PH were classified as unilateral or bilateral, complete or incomplete, and as isolated or multiple. IUGR was determined in the RN and malnutrition in infants. A statistic analysis was made with STATA 8.0 for Windows. We studied 20 cases of NTDs, 3 LCs and 17 RN. LH c/s PH were 8 LC and 8 RN. The DTN, 60 percent were myelomeningocele and corresponded to open lesions. Eighty five percent were located at high level. In the model of multiple closures, the Z1 was 80 percent. The LH c/s PH were more frequent with complete cleft (50 percent). The 35 percent of newborns with NTD had IUGR and 67 percent of LC had malnutrition. It is important to understand the mechanisms of development of congenital anomalies as this allows to specify the time the fault occurred and to study the underlying diseases to offer genetic counseling for possible prevention.


Assuntos
Humanos , Recém-Nascido , Lactente , Defeitos do Tubo Neural/patologia , Fissura Palatina/patologia , Fenda Labial/patologia , Defeitos do Tubo Neural/epidemiologia , Retardo do Crescimento Fetal , Desnutrição
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