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1.
J. bras. psiquiatr ; 71(1): 40-49, jan.-mar. 2022. tab
Article in Portuguese | LILACS | ID: biblio-1365061

ABSTRACT

OBJETIVO: Determinar a prevalência e os fatores associados aos sintomas de ansiedade e depressão e ao apego materno-fetal em gestantes com diagnóstico de malformações congênitas. MÉTODOS: Estudo prospectivo de corte transversal realizado durante o período de dezembro/2019 a março/2020. Foram incluídas 77 gestantes com diagnóstico de malformação fetal atendidas no Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) e excluídas aquelas < 18 anos e as que sabiam o diagnóstico da malformação há menos de três semanas. Aplicou-se um questionário com variáveis sociodemográficas e clínicas, além da Escala Hospitalar de Ansiedade e Depressão e da Escala de Apego Materno-Fetal. Para análise estatística, foi aplicado o modelo de regressão logística multivariado com nível de significância de 5%. RESULTADOS: Entre as gestantes, 46,8% possuíam sintomas ansiosos e 39%, depressivos, sendo o apego materno-fetal médio em 54,5% e alto em 45,5%. Antecedentes de ansiedade e depressão e não possuir religião foram associados a maior risco de sintomas de ansiedade e depressão, e saber da malformação há ≥ 10 semanas associou-se apenas ao risco de ansiedade e ter gestação múltipla associou-se apenas ao risco de depressão. O apego materno-fetal não foi associado a ansiedade ou depressão. CONCLUSÃO: Observou-se alta prevalência de sintomas ansiosos e depressivos em gestantes com fetos malformados, além da presença de apego materno-fetal médio/alto em todas pacientes, porém sem associação com os transtornos psiquiátricos estudados. Diante disso, urge a necessidade da criação de novas linhas de cuidado voltadas à saúde mental dessas mulheres.


OBJECTIVE: To determine the prevalence and factors associated with anxiety and depression symptoms and maternal-fetal attachment in pregnant women diagnosed with congenital malformations. METHODS: Prospective cross-sectional study conducted from December/2019 to March/2020. Seventy-seven managers with a diagnosis of fetal malformation attended at the Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) and those under 18 years of age who did not know the diagnosis of malformation in less than 3 weeks were excluded. Applicable to a questionnaire with clinical and sociodemographic variables, in addition to the Hospital Anxiety and Depression Scale and Maternal- -Fetal Attachment Scale. For statistical analysis, the multivariate logistic regression model was applied with a 5% significance level. RESULTS: Among pregnant women, 46.8% had anxiety symptoms and 39% depressive symptoms, with average maternal-fetal attachment at 54.5% and high at 45.5%. History of anxiety and depression and cannot use religion have been associated with an increased risk of anxiety and depression, whereas malformation saber for ≥ 10 weeks, associated only with risk of anxiety and multiple pregnancy only in depression. Maternal-fetal attachment was not associated with anxiety or depression. CONCLUSION: If there is a high prevalence of anxious and depressive symptoms in pregnant women with malformed fetuses, in addition to the presence of medium maternal-fetal/high attachment in all patients, with no association with the studied psychiatric disorders. Therefore, request the creation of new lines of care aimed at the mental health of these women.


Subject(s)
Humans , Female , Pregnancy , Adult , Young Adult , Anxiety/epidemiology , Congenital Abnormalities/diagnosis , Maternal-Fetal Relations/psychology , Depression/epidemiology , Object Attachment , Prevalence , Cross-Sectional Studies , Prospective Studies , Surveys and Questionnaires , Psychological Distress
2.
Femina ; 49(9): 556-571, 20211030. tab
Article in Portuguese | LILACS | ID: biblio-1342326

ABSTRACT

Objetivo: Determinar a correlação entre vias de parto, locais de parto e prognóstico neonatal por meio do índice de Apgar e a capacidade de diagnosticar malforma- ções. Métodos: A pesquisa foi realizada no Sistema de Informação de Nascidos Vivos para variáveis de parto e malformações. Também correlacionamos o Apgar com ou sem malformação fetal e local do parto. Resultados: Houve uma quantidade considerável de dados de Apgar indefinidos, especialmente em partos domiciliares. Os partos domiciliares com malformações fetais com Apgar 0-2 e 3-5 no primeiro minuto também apresentaram piores taxas de recuperação no quinto minuto em comparação a cesárea e parto vaginal intra-hospitalar. O registro do diagnóstico das malformações fetais ocorre em ambiente hospitalar e é mais frequente do que no domiciliar. Recém-nascidos com malformações fetais apresentaram maiores taxas de Apgar ao nascer em ambiente hospitalar. As anomalias associadas aos piores prognósticos foram neurológicas e cardiológicas, enquanto as menos associadas foram as de pés e quadris. Conclusão: Esta pesquisa sugere que a cesárea e o parto hospitalar estão correlacionados a um melhor prognóstico do recém-nascido com malformação, bem como a capacidade de diagnosticar doenças congênitas que potencialmente requerem intervenção médica imediata.(AU)


Objective: To determine the correlation between delivery routes, delivery sites and neonatal prognosis through Apgar score and the ability to diagnose malformations. Methods: Research was carried out in the Live Birth Information System for delivery variables and malformations. We also correlated Apgar with or without fetal malformation and delivery site. Results: There was a considerable amount of undefined Apgar data, especially in home births. Home births with fetal malformations with Apgar 0-2 and 3-5 in the first minute also showed worse recovery rates in the fifth minute compared to cesarean section and intra-hospital vaginal delivery. Registration of the diagnosis of fetal malformations occurs in a hospital environment and is more frequent than at home. Newborns with fetal malformations had higher Apgar rates when born in a hospital environment. The abnormalities associated with the worst prognoses were neurological and cardiological, while the least associated were those of the feet and hips. Conclusion: This research suggests that caesarean section and hospital births are correlated with a better prognosis of the newborn with malformation, as well as ability to diagnose congenital diseases that potentially require immediate medical intervention.(AU)


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Apgar Score , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Parturition , Prognosis , Cesarean Section , Birth Setting , Home Childbirth , Natural Childbirth
3.
Arq. bras. med. vet. zootec. (Online) ; 73(5): 1105-1110, Sept.-Oct. 2021. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1345268

ABSTRACT

The aim of this work was to report the occurrence of dicephalus iniodymus monauchenos in a Nellore newborn. A three-days old calf, from in vitro production, with duplication of the head and a history of cesarean birth was attended. On physical examination, the dicephalus, iniodymus and monauchenos, which were almost the same size and shape, had four eyes and four ears. Computed tomography showed the presence of two skulls fused with a common occipital foramen, two nasopharynxes, oropharynxes with the presence of a cleft lip and a cleft palate in the right head, which continued in a single esophagus and a single trachea. At necropsy, the presence of duplication of the cerebrum and cerebellum was observed, with union of the parts in the region of the trapezoid body of the brainstem and continued as a single spinal cord. This study characterizes the clinical, tomographic, and necropsy findings of a dicephalus Nelore neonate.(AU)


O objetivo deste trabalho foi relatar a ocorrência de Dicephalus Iniodymus Monauchenos em um neonato da raça Nelore de produção in vitro. Foi atendida uma fêmea bovina, de três dias de idade, com duplicação das cabeças e histórico de nascimento por meio de cesariana. No exame físico, observou-se a dicefalia, Iniodymus e Monauchenos, apresentando quatro olhos e quatro orelhas. Na tomografia computadorizada, constatou-se a presença de dois crânios fundidos com um forame occipital comum, duas nasofaringes, orofaringes com presença de lábio leporino e fenda palatina na cabeça direita, que continuavam em um único esôfago e em uma única traqueia. Na necropsia, observou-se a presença de duplicação do encéfalo e cerebelo, com união das partes na região do corpo trapezoide do tronco encefálico, que continuavam como uma única medula espinhal. Este estudo caracteriza os achados clínicos, tomográficos e de necropsia de um neonato Nelore dicefálico.(AU)


Subject(s)
Animals , Cattle , Congenital Abnormalities/diagnosis , Congenital Abnormalities/pathology , Congenital Abnormalities/diagnostic imaging , Cattle/abnormalities , Fertilization in Vitro/veterinary , Cleft Lip/veterinary , Cleft Palate/veterinary
4.
Rev. bras. ginecol. obstet ; 43(6): 452-456, June 2021. tab, graf
Article in English | LILACS | ID: biblio-1341140

ABSTRACT

Abstract Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. Results An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed amalformation: one case of hypospadias and 1 case of cleft palate. Conclusion The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.


Resumo Objetivo O objetivo do presente estudo foi determinar a frequência demalformaçães e anomalias cromossômicas em uma população de fetos com artéria subclávia direita aberrante (ARSA). Métodos Este é um estudo retrospectivo de 6 anos de fetos com diagnóstico prénatal de ARSA realizado durante o período de setembro de 2013 a junho de 2019 em uma unidade de medicina fetal. Os dados foram coletados de ultrassom, ecocardiograma fetal, estudos genéticos e registros neonatais. Resultados Um ARSA foi diagnosticado em 22 fetos. Um ARSA foi um achado isolado em 18 dos 22 casos (82%). Achados ultrassonográficos anormais associados foram encontrados em 4 casos. Todos os casos foram submetidos a testes invasivos. Em um dos casos, foi detectada uma anormalidade cromossômica (mos 45, X [13] / 46, X, e (X) (p22.1q22.1)). Nenhum caso de doença cardíaca congênita foi encontrado em qualquer um desses fetos. Houve dois casos em que a avaliação pós-natal revelou a malformação: um caso de hipospádia e 1 caso de fenda palatina. Conclusão A presença de ARSA isolado é benigna e não está associada a anormalidades cromossômicas. O achado de ARSA, no entanto, justifica uma ultrassonografia fetal detalhada para excluir anormalidades fetais importantes e outros marcadores leves.


Subject(s)
Humans , Male , Female , Pregnancy , Adolescent , Adult , Young Adult , Subclavian Artery/abnormalities , Congenital Abnormalities/diagnosis , Ultrasonography, Prenatal , Chromosome Aberrations , Cardiovascular Abnormalities/genetics , Cardiovascular Abnormalities/diagnostic imaging , Subclavian Artery/diagnostic imaging , Echocardiography , Genetic Testing , Retrospective Studies
5.
Article in Spanish | LILACS, CUMED | ID: biblio-1280304

ABSTRACT

Con gran interés leí el artículo: Síndrome del corazón izquierdo hipoplásico, de la autoría de Crespo Vallejo y otros investigadores ecuatorianos. Este síndrome (ICD10CM: Q23.4) representa entre el 7 y el 9 por ciento de las malformaciones congénitas cardiacas y constituye la causa más frecuente de insuficiencia cardiaca y de mortalidad neonatal por cardiopatías congénitas (CC) en la primera semana de vida.1 Los autores describen muy adecuadamente al síndrome de cavidades izquierdas hipoplásicas (SCIH)…como una combinación de varias malformaciones que, en su conjunto, son los responsables de todas las manifestaciones clínicas de la enfermedad y citando a Laranjo y otros, plantean que: …"Se conoce que todas estas afecciones tienen un componente genético; sin embargo, en el caso del SCIH no se ha identificado aún el tipo o localización del trastorno responsable de la aparición del...(AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Congenital Abnormalities/diagnosis , Congenital Abnormalities/genetics , Infant Mortality , Hypoplastic Left Heart Syndrome/epidemiology
6.
Rev. argent. cir. plást ; 27(1): 37-39, jan.-mar. 2021. ilus
Article in Spanish | LILACS | ID: biblio-1223744

ABSTRACT

Las orejas prominentes se deben a una o varias anomalías congénitas que pueden asociarse entre sí en grados diversos. Los pabellones auriculares son considerados demasiado visibles tanto por la falta de plegamiento del antihélix, la abertura del ángulo cefaloconchal y la hipertrofia de la concha, según la clasificación de Davis. Son un problema estético frecuente, observándose en el 5% de la población. El conocimiento de la anatomía del pabellón normal y de los criterios antropométricos es indispensable. El grosor del cartílago condiciona la rigidez y la elasticidad del pabellón, mientras que sus relieves definen la forma y la posición. La finalidad en la otoplastia es corregir estas anomalías, remodelando el cartílago para obtener unas orejas con una plicatura adecuada, situadas y orientadas según parámetros estéticos, simétricas, con un tamaño y aspecto natural. Se pueden combinar distintos procedimientos quirúrgicos los cuales deben ser simples, rápidos, tener un resultado armonioso y duradero. Se realizó una revisión retrospectiva entre los años 2018 a 2020 en el Servicio de Cirugía Plástica del Hospital Tornú, en la que se presentan 4 casos de orejas prominentes a los cuales se les realizaron diferentes técnicas quirúrgicas de otoplastia (Davis, Stentstrom y Furnas). El total de los pacientes (n=4) tratados presentó un resultado satisfactorio tanto para el paciente como para el equipo quirúrgico, sin complicaciones significativas. La resolución quirúrgica de las orejas prominentes puede realizarse mediante numerosas técnicas; estas se dividen entre aquellas que realizan un procedimiento agresivo sobre el cartílago (resectivas) y las que intentan ser más conservadoras, sin resección del mismo para evitar al máximo las complicaciones. La diversidad de enfoques indica que no existe una técnica definitiva para corregir estos problemas. Las orejas prominentes o en asa, si bien no presentan alteraciones funcionales, tienen consecuencias sobre los efectos estéticos y psicológicos en el paciente que pueden ser sustanciales. Es importante conocer su base anatómica y realizar una adecuada evaluación, elegir técnicas para la corrección de la deformidad y conocer las posibles complicaciones del procedimiento para obtener un buen resultado estético y duradero.


Prominent ears are due to one or more congenital anomalies that may be associated with each other to varying degrees. The pinnae are considered too visible due to the lack of folding of the antihelix, the opening of the cephalo-conchal angle and the hypertrophy of the concha, according to the Davis classification. They are a frequent esthetic problem, being observed in 5% of the population. Knowledge of normal pinna anatomy and anthropometric criteria is essential. The thickness of the cartilage determines the rigidity and elasticity of the pinna, while its relief defines its shape and position. The purpose of otoplasty is to correct these anomalies, remodeling the cartilage to obtain ears with an adequate plication, positioned and oriented according to aesthetic parameters, symmetrical, with a natural size and appearance. Different surgical procedures can be combined, which must be simple, fast, have a harmonious and lasting result. A retrospective review was performed from 2018 to 2020 in the Plastic Surgery Department of the Tornú Hospital, presenting 4 cases of prominent ears which underwent different otoplasty surgical techniques (Davis, Stentstrom and Furnas). The total number of patients (n=4) treated presented a satisfactory result for both the patient and the surgical team without significant complications. Surgical resolution of protruding ears can be performed by numerous techniques, divided between those that perform an aggressive procedure on the cartilage (resective) and those that try to be more conservative, without resection of the cartilage to avoid complications as much as possible. The diversity of approaches indicates that there is no definitive technique to correct these problems. Prominent or protruding ears, although they do not present functional alterations, the consequences on the esthetic and psychological effects on the patient can be substantial. It is important to know their anatomical basis and to perform an adequate evaluation, to choose techniques for the correction of the deformity and to know the possible complications of the procedure in order to obtain a good esthetic and lasting result.


Subject(s)
Humans , Congenital Abnormalities/diagnosis , Reconstructive Surgical Procedures/methods , Ear Auricle/abnormalities , Ear Auricle/surgery
7.
Rev. méd. hondur ; 89(1, supl): 10-13, 2021. ilus
Article in Spanish | LILACS | ID: biblio-1247570

ABSTRACT

Antecedentes: Fetus in fetu (FIF) es una rara anomalía congénita de gemelos monocigotos asimétricos, donde el gemelo parásito se desarrolla anormalmente dentro del cuerpo del gemelo huésped. Actualmente hay menos de 200 casos reportados a nivel mundial siendo este el segundo caso en Honduras. Caso clínico: Se reporta el caso de un paciente masculino, recién nacido a término en la sala de maternidad del Hospital San Felipe, quien a su nacimiento se observó distensión abdominal, hernia umbilical, hernia inguino-escrotal izquierda y tumoración en el hipocondrio izquierdo por lo que se decide realizar una radiografía anteroposterior toracoabdominal revelado un tumor en la región izquierda del abdomen con presencia de calcificaciones. Se refiriere al Hospital Escuela Universitario donde se le efectuó un ultrasonido abdominal total con reporte de masa heterogénea de 5 cm3 de volumen con componente cálcico en su interior, que tuvo que ser correlacionada con tomografía axial computarizada con reconstrucción 3D dando como resultado masa heterogenia con huesos axiales y apendiculares en su interior compatible con FIF. Se realizó intervención quirúrgica con resección de tumoración retroperitoneal y sus anexos sin secuelas ni complicaciones por lo cual se da alta médica. Conclusión: Aunque el FIF es una enfermedad muy rara, el tratamiento de elección será la resección de la masa y su pronóstico es favorable cuando la masa se ubica en el área retroperitoneal. Se puede observar que la tomografía tridimensional es una técnica de imagen útil para la diferenciación entre un FIF y un teratoma en el diagnóstico preoperatorio...(AU)


Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Adult , Twins, Monozygotic , Congenital Abnormalities/diagnosis , Twins, Conjoined , Stillbirth
8.
Psicol. Estud. (Online) ; 26: e45012, 2021. tab
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1250507

ABSTRACT

RESUMO: Este artigo objetiva analisar o sentimento materno ao receber um diagnóstico de malformação congênita do filho nos períodos: pré-natal, nascimento e primeira infância. O estudo foi realizado com mães de filhos com anomalia fetal, por meio de noventa e sete entrevistas, que continham perguntas sobre gravidez e percepção acerca do diagnóstico. Direcionado ao sentimento destacam-se as questões: 'Como você se sentiu ao receber o diagnóstico?', 'Qual o sentimento atual?', 'Como encontrou conforto?'. Para compreensão dos dados foi utilizada a análise qualitativa de conteúdo com base numa estrutura de categorias. O diagnóstico de malformação congênita desmitifica as expectativas maternas quanto ao futuro do filho, configurando um cenário de ansiedade, confusão, insegurança e múltiplos medos. O auxílio, seja da equipe multidisciplinar de saúde, religioso ou familiar, é importante para ajudar mães a reduzirem o impacto emocional do diagnóstico, além de auxiliar com as dificuldades iniciais em estabelecer o vínculo com o bebê.


RESUMEN: El objetivo de articulo es analisar el sentimiento de la madre al recibir, en los períodos pré-natal, nacimento y primera infância, el diagnóstico de malformación congênita de su hijo. Para ello fue realizado un estúdio con madres cuyos hijos son portadores de anomalia fetal, por medio de noventa y siete entrevistas, que contenían preguntas sobre el embarazo y sobre el impacto de conocer el diagnóstico del bebé. Direccionado al sentimiento materno, se destacan en él, los siguientes aspectos: 'Como usted se sentio al recibir el diagnóstico?', 'Cual es su sentimiento actualmente?', 'Como encontro consuelo?'. Para poder compreender mejor los datos fue utilizada una análisis cualitativa de contenido con base en una estructura de categorias. El diagnóstico de malformación congénita desmitifica las expectativas maternas em relación al futuro de su hijo, configurando un escenário de ansiedad, confusión, inseguridad e múltiples miedos. El auxílio, sea del equipo multidisciplinario de salud, religioso o familiar, es importante para ayudar a las madres a reduzir el impacto emocional producido por el conocimiento del diagnóstico, y además servir de auxilio en las dificuldades iniciales de establecer un vínculo con el bebé.


ABSTRACT: This article aims to analyze the maternal feelings about a congenital malformation diagnosis received before birth, immediately after birth, or in early infancy. This study was conducted with mothers whose children have congenital anomalies, based on ninety-seven interviews that included questions regarding pregnancy and the mothers' perspective on their child diagnosis. Regarding maternal feelings, the main questions were: 'How did you feel when you first heard the diagnosis?', 'How have you been feeling?', 'Where have sought comfort?'. Qualitative analysis was performed based on categories for data comprehension. Congenital malformation diagnosis breaks down the maternal expectations around the child's future, creating an environment full of anxiety, confusion, insecurity and multiple fears. The support of the multidisciplinary health team, religious and domestic is important to reduce the emotional impact suffered by the mothers after the diagnosis. It also helps the early difficulties in bonding with the baby.


Subject(s)
Humans , Female , Adolescent , Adult , Middle Aged , Congenital Abnormalities/diagnosis , Diagnosis , Emotions , Anxiety/psychology , Prenatal Care/psychology , Psychology , Pregnancy/psychology , Family/psychology , Adaptation to Disasters , Fear/psychology , Sadness/psychology , Mother-Child Relations/psychology , Mothers/psychology
9.
Rev. cuba. pediatr ; 92(4): e977, oct.-dic. 2020. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1144516

ABSTRACT

Introducción: Las malformaciones congénitas del riñón y del tracto urinario representan entre 20 y 30 por ciento de todas las malformaciones reconocidas en humanos. Objetivo: Identificar los antecedentes patológicos familiares y las enfermedades durante el embarazo asociados a la aparición de defectos congénitos renales. Métodos: Estudio descriptivo prospectivo transversal realizado en 672 niños nacidos entre julio de 2014 y junio de 2015 en Santa Clara, con ultrasonido prenatal normal. A todos los niños durante la consulta médica se les hizo examen físico detallado y previo consentimiento informado del familiar acompañante, se aplicó a estos una encuesta y se registraron variables epidemiológicas, antecedentes familiares de enfermedades renales, morbilidad de la madre durante el embarazo y se realizó un ultrasonido renal para identificar las alteraciones sonográficas sugerentes de algún tipo de anomalías del desarrollo renal. Resultados: En 40 (5,95 por ciento) pacientes se detectó alteración sonográfica. El 27,50 por ciento eran hijos de madres que presentaron alguna enfermedad durante el embarazo. La glucemia elevada afectó 10 por ciento de las madres de los niños con anomalías del desarrollo renal, seguida del bajo peso materno (7,5 por ciento). El hecho de presentar antecedente patológico familiar de enfermedad renal aportó un riesgo de 1,88 y en las de tipo obstructivo el riesgo fue de 5,08. Conclusiones: Las alteraciones sonográficas sugestivas de malformación congénita renal son más frecuentes en los lactantes cuyas madres presentaron concentraciones elevadas de glucosa y bajo peso durante el embarazo. Los niños con antecedentes familiares de malformación renal tienen mayor riesgo de presentar una anomalía del desarrollo renal(AU)


Introduction: Kidney and urinary tract´s malformations represent among 20 and 30 percent of all malformations known in humans. Objective: To identify during pregnancy family pathological history and diseases associated to the onset of renal congenital malformations. Methods: Prospective, descriptive, cross-sectional study carried out to 672 children with normal prenatal ultrasound whom were born from July, 2014 to June 2015 in Santa Clara province. All children during the medical consultation had a detailed physical examination and previous informed concent; it was applied also a survey and the epidemiologic variables, family history of renal diseases, morbility of the mother during pregnancy were recorded, and it was made a renal ultrasound to identify sonographic alterations suggesting any kind of anomaly in the renal development. Results: In 40 patients (5,95 percent), it was detected any sonographic alteration. 27,50 percent were children of mothers that presented any disease during pregnancy. High glycemia affected the 10 percent of mothers of children with anomalies in the renal development, followed by low maternal weight (7,5 percent). The fact of presenting a family pathological history of renal disease implied a risk of 1,88 percent and the risk was of 5,08 percent in the obstructive kind of diseases. Conlusions: Sonographic alterations suggesting renal congenital malformations are more frequent in newborns whose mothers had high concentrations of glycemia and low weight during pregnancy. Children with family history of renal malformations have higher risk of presenting an anomaly of the renal development(AU)


Subject(s)
Humans , Male , Female , Infant , Congenital Abnormalities/diagnosis , Renal Insufficiency, Chronic/etiology , Kidney/abnormalities , Urinary Tract/abnormalities , Epidemiology, Descriptive , Cross-Sectional Studies , Prospective Studies
10.
Rev. cuba. estomatol ; 57(3): e3060, jul.-set. 2020. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126525

ABSTRACT

RESUMEN Introducción: Durante la odontogénesis se pueden producir malformaciones congénitas que afectan la forma, el número, el tamaño, la estructura, la posición, el color y la erupción de los dientes. En las personas con discapacidades como parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista, pueden presentarse variedad de anomalías dentales. Objetivo: Describir las anomalías dentales en las condiciones de discapacidad de parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista. Métodos: Se realizó una búsqueda bibliográfica en las bases de datos Clinical Key, Medline, Dialnet y SciELO. Se aplicó la lista de comprobación PRISMA. Análisis e integración de la información: Posterior al proceso de lectura y análisis de la información, se recuperaron 800 artículos de las bases de datos, se eliminaron 590 por encontrarse repetidos. Luego de la discriminación, quedaron para revisar 210, a estos restantes se hizo la revisión de texto completo. Se eliminaron 193 no hacían referencia a anomalías dentales y/o a los trastornos o síndromes. De los 17 restantes, solo 15 cumplieron con los criterios de inclusión. Conclusiones: No se encontraron diferencias para afirmar que algunas de las anomalías y alteraciones presentadas correspondan de manera individual a cada tipo de discapacidad. Sin embargo, el síndrome de Down presenta anomalías dentales relacionadas al estado del paciente. La parálisis cerebral reporta otros hallazgos como bruxismo, debido al deficiente desarrollo muscular, lo que afecta la cavidad bucal y sus estructuras(AU)


ABSTRACT Introduction: During odontogenesis, congenital malformations can occur that affect teeth shape, number, size, structure, position, color and eruption. In people with disabilities such as cerebral palsy, intellectual development disorder, Down syndrome, and autism spectrum disorder, a variety of dental abnormalities can occur. Objective: To describe dental anomalies in such disability conditions as cerebral palsy, intellectual development disorder, Down syndrome and autism spectrum disorder. Methods: A bibliographic search was performed in the databases Clinical Key, Medline, Dialnet and SciELO. The PRISMA checklist was applied. Information analysis and integration: After reading and analyzing the information, 800 articles were retrieved from the databases, of which 590 were deleted because they were repeated. After the discrimination, 210 were pending to review; the remaining ones were reviewed full-text. 193 were deleted because they did not do any reference to dental anomalies and/or disorders or syndromes. Of the remaining 17, only 15 met the inclusion criteria. Conclusions: No differences were found to affirm that some of the anomalies and alterations presented correspond individually to each type of disability. However, Down syndrome has dental abnormalities related to patient condition. Cerebral palsy coincides with other findings such as bruxism, due to poor muscle development, which affects the oral cavity and its structures(AU)


Subject(s)
Humans , Tooth Abnormalities/therapy , Congenital Abnormalities/diagnosis , Disabled Persons , Odontogenesis/physiology , Review Literature as Topic , Databases, Bibliographic , Down Syndrome/diagnosis , Autism Spectrum Disorder/diagnosis
11.
Rev. chil. obstet. ginecol. (En línea) ; 85(4): 358-365, ago. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1138632

ABSTRACT

INTRODUCCIÓN: El diagnóstico prenatal de anomalías congénitas tiene como objetivo ofrecer consejería apropiada, identificar aquellas patologías que se benefician de terapia fetal y coordinar la derivación de estas pacientes a centros terciarios para un óptimo manejo perinatal. Para el diagnóstico y manejo de las anomalías congénitas en el Hospital Dr. Sótero Del Río contamos con un equipo multidisciplinario. El objetivo de este estudio es describir nuestra experiencia como centro de referencia en Santiago de Chile en relación al diagnostico prenatal de malformaciones congénitas, estudio genético prenatal y resultados perinatales. MÉTODOS: Estudio retrospectivo y descriptivo. Se incluyó a las pacientes registradas en las bases de datos ecográficas entre 2010 y 2019 del Hospital Dr. Sotero del Rio. Se revisaron fichas clínicas para evaluación y seguimiento postnatal. RESULTADOS: Se evaluaron 404 pacientes con sospecha de malformaciones congénitas o marcadores de aneuploidías. La edad gestacional media de la evaluación fue 29 semanas (14-38 semanas). La mediana de la edad gestacional al parto fue 37.6 semanas (20-41 semanas). Se obtuvo un 78% de recién nacidos vivos, 12% óbitos fetales y 10% mortineonatos. Las malformaciones más frecuentes fueron cardiovasculares, sistema nervioso central, hidrops, extremidades, abdomen y genitourinario. Se realizo el estudio genético en 232 pacientes; 61% resultado normal, 12.5% trisomía 21, 8% trisomía 18, 4% trisomía 13, 4% XO, 4% otras. Se analizaron las pacientes que se acogieron a la ley de interrupción voluntaria del embarazo. CONCLUSIÓN: Destacamos la importancia de derivación a centros de referencia de pacientes con sospecha de malformaciones congénitas para un adecuado diagnostico prenatal, ofrecer un manejo con equipo multidisciplinario y así mejorar los resultados neonatales.


INTRODUCTION: The objectives of prenatal diagnosis of fetal malformations are to offer the patient and her family the proper counseling, identify those conditions that benefits of prenatal therapy and to coordinate the referral to tertiary centers to improve neonatal survival. Our hospital counts with a multidisciplinary team who evaluate the patients together. The objective of this study is to describe our experience as a referral center in prenatal diagnosis, management and neonatal outcomes in Santiago de Chile. METHODS: Retrospective and descriptive study. Patients registered in our prenatal diagnosis database between September 2010 and July 2019 were included. Clinical files were reviewed for neonatal outcomes. OUTCOMES: 404 patients with congenital malformations or aneuploidy markers were evaluated. The average gestational age of the evaluation was 29 weeks. Median gestational age to delivery was 37 weeks plus 6 days. 78% of livebirth, 12% fetal demise and 10% of neonatal death were obtained. The most frequent fetal malformations were cardiovascular, central nervous system, fetal hydrops, extremities, abdominal wall defects and urinary system. Fetal karyotype was performed in 232 patients; 61% normal karyotype, 12.5% trisomy 21, 8% trisomy 18, 4% trisomy 13, 4% monosomy X, 4% others. We also analyze the patients who agreed to termination of pregnancy according to Chilean legislation. CONCLUSION: We highlight the importance of referral of patients with suspected fetal malformations to tertiary centers for an adequate evaluation by a multidisciplinary team of specialists, to improve the survival and neonatal outcome.


Subject(s)
Humans , Female , Pregnancy , Adolescent , Adult , Middle Aged , Prenatal Diagnosis/statistics & numerical data , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Patient Care Team , Referral and Consultation , Congenital Abnormalities/genetics , Pregnancy Outcome , Epidemiology, Descriptive , Retrospective Studies , Follow-Up Studies , Gestational Age
12.
Rev. chil. pediatr ; 91(4): 579-583, ago. 2020. graf
Article in Spanish | LILACS | ID: biblio-1138674

ABSTRACT

INTRODUCCIÓN: El himen imperforado es la malformación congénita más frecuente del tracto genital femenino. La mayoría de los casos no se pesquisan en la infancia, debido a un examen genital insuficiente. Su diagnóstico y resolución deben ser precoces y definitivas para evitar complicaciones posteriores. OBJETIVO: Presentar el caso de una lactante portadora de himen imperforado, y actualizar la información sobre las técnicas de examen genital para detectar esta patología en forma precoz y su tratamiento. CASO CLÍNICO: Lactante de 3 meses, consultó por aumento de volumen protruyente en la zona del introito. En el examen físico se realizó maniobra de valsalva que dio salida a una masa homogénea, nacarada de superficie lisa, entre los labios mayores, sugerente himen imperforado. Se complementó el estudio con ultrasonido ginecológico, el que demostró la presencia de hidrocolpos, descartando otras anomalías. Se realizó una himenotomía, que dio salida a abundante material seroso, sin mal olor, y luego se completó la himenectomía mediante la resección de la membrana himeneal. En control al 4to mes posterior a la intervención se constató un himen ampliamente permeable. CONCLUSIÓN: Los equipos de atención neonatal, requieren capacitación acerca de la técnica correcta del examen genital externo de la recién nacida y lactante. La himenectomía es la técnica que permite resolver definitiva mente el cuadro evitando complicaciones.


INTRODUCTION: Imperforated hymen is the most frequent congenital malformation of the female genital tract. Most cases are not investigated in childhood, due to an insufficient genital examination. Its diagnosis and resolution must be early and definitive to avoid subsequent complications. OBJECTIVE: A clinical case of an infant with imperforated himen is presented. To update on genital examination technique necessary to detect this pathology in the newborn and infants, and the proper treatment. CLINICAL CASE: 3-months-old infant that consulted due to an increase in bulging volume in the introitus area. In the physical examination, the Valsalva's maneuver was performed allowed the ex pulsion of a homogeneous pearly mass with a smooth surface, between the labia majora, suggesting imperforate hymen. The study was complemented with gynecological ultrasound, which demons trated the presence of hydrocolpos, ruling out other anomalies. A hymenotomy was performed, which allowed for the evacuation of abundant serous material, with no bad smell, and then the hymenectomy was completed by resection of the hymenal membrane. In follow-up monitoring 4 months after the intervention, a widely permeable hymen was found. CONCLUSION: Neonatal care teams require training on the correct technique of external genital examination of the newborn and infant. Hymenectomy is the technique that allows definitely resolving the condition, avoiding complications.


Subject(s)
Humans , Female , Infant , Congenital Abnormalities/surgery , Congenital Abnormalities/diagnosis , Hymen/abnormalities , Physical Examination/methods , Hymen/surgery
13.
Rev. medica electron ; 42(2): 1743-1753, mar.-abr. 2020. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1127032

ABSTRACT

RESUMEN La gastroquisis, es un defecto congénito de cierre de la pared abdominal, en general justa a la derecha de la insertación normal del cordón umbilical en la pared del abdomen. Rara vez ocupa una posición especular a la izquierda del cordón umbilical; una cantidad variable de intestinos, y en ocasiones otros órganos abdominales se hernian, fuera de la pared abdominal, sin saco ni cobertura membranosa a diferencia del onfalocele. El Proceso de Atención de Enfermería, es el método científico de actuación de los profesionales de la Enfermería, vinculados a una base teórica que desarrollan habilidades analíticas que aplicadas en la práctica, repercuten en la mejoría de los pacientes. El objetivo de este trabajo es describir un caso poco frecuente de gastroquisis, y vincularlo al proceso de atención de Enfermería. Se trató de una recién nacida, sexo femenino, raza mestiza. Ingresó en la Sala de Terapia Intensiva del Hospital Pediátrico Provincial Eliseo Noel Caamaño de Matanzas con 5 horas de nacida. La vinculación de este caso con el Proceso de Atención de Enfermería permitió una atención integral al individuo enfermo, y desarrolló las habilidades prácticas de la asistencia de enfermería (AU).


ABSTRACT Gastrochisis is a congenital defect of the abdominal wall closure, generally just on the right of the umbilical cord normal insertion in the abdominal wall. It rarely occupies a specular position to the right of the umbilical cord; a variable amount of intestines, and sometimes other abdominal organs, are herniated outside the abdominal wall, without a sac or a membranous covering unlike the omphalocele. The nursing care process is a scientific method of nursing professionals behavior, on a theoretical basis, developing analytical skills that, applied in the practice, have repercussion on the patients´ improvement. Describing an infrequent case of gastrochisis, and linking it to the Nursing care process is the aim of this article. The patient was a mestizo female newborn who entered the Intensive Care Ward of the Pediatric Provincial Hospital "Eliseo Noel Caamaño" of Matanzas five hours after birth. Linking this case to the Nursing care process allowed the integral care of the sick person, and developed the nursing care practical skills (AU).


Subject(s)
Humans , Female , Infant, Newborn , Abdominal Wall/abnormalities , Nursing Care/methods , Congenital Abnormalities/diagnosis , Congenital Abnormalities/nursing , Child, Hospitalized , Pediatric Nurse Practitioners/standards
14.
Article in French | AIM | ID: biblio-1258377

ABSTRACT

Les malformations congénitales cervico-oro-faciales sont des défauts structurels, fonctionnels, comportementaux et métaboliques qui se développent au cours de la période d'organogenèse de la sphère cervico-oro-faciale affectant la qualité de vie des patients. Le but de ce travail était de contribuer à l'étude des malformations congénitales cervico-oro-faciales. Il s'agit d'une étude descriptive menée dans le service d'odontostomatologie et de chirurgie maxillo­faciale de hôpital national Donka sur une période d'un mois incluant tous les patients présentant une malformation congénitale oro-cervico-faciale ayant fait l'objet d'un diagnostic, un traitement et un suivi post-thérapeutique. 28 cas de malformations congénitales cervico-oro-faciales ont été colligés soit une fréquence de 35,44 %. Les patients dont l'âge se situe entre 0 et 10 ans ont été les plus nombreux. Lesexratio était de 1,15 en faveur du sexe masculin. Conakry a été le plus grand pourvoyeur de patients avec un taux de 78,58 %. Et 25 % des patients avaient tenté auparavant un traitement ailleurs avant d'avoir consulté notre service. Les fentes labiales ont été les plus nombreuses soit 25 %. Dans notre série la plastie dont la Z-Plastie a été l'acte le plus réalisé. La totalité de nos patients ont été soumis à un traitement antalgique pendant les heures et jours qui ont suivi l'intervention. 98,70 % des cas ont été soumis à une antibiothérapie. La suite opératoire a été favorable dans 92,86 % des cas. Les malformations congénitales cervico-oro-faciales sont fréquentes, diverses et variées. Le diagnostic post-natal est aisé et précoce. Les fentes labiales ont représenté la forme nosologique la plus fréquente. Seule la chirurgie a été réalisée chez tous nos patients


Subject(s)
Congenital Abnormalities/diagnosis , Congenital Abnormalities/drug therapy , Congenital Abnormalities/history
15.
Rev. méd. Minas Gerais ; 30(supl.5): 32-38, 2020.
Article in Portuguese | LILACS | ID: biblio-1223944

ABSTRACT

Objetivo: Avaliar a casuística de malformações vasculares do serviço de pneumologia de um hospital público referência estadual para o atendimento pediátrico e analisar os achados clínicos predominantes associados a estas malformações. Métodos: Foi realizado um levantamento de todos os casos de malformações vasculares pulmonares diagnosticadas no serviço, no período de agosto de 1986 a dezembro de 2003. Por meio da análise de prontuários destes pacientes, as seguintes variáveis foram avaliadas: alteração estrutural pulmonar, as manifestações clínicas, a idade média ao diagnóstico, o sexo do paciente e evolução clínica. Resultados: As patologias encontradas foram: sequestro pulmonar - 6 casos (25%), agenesia e/ou hipoplasia pulmonar - 7 casos (30%), fístulas artériovenosas - 4 casos (16%), anel vascular ­ 6 casos (25%) e agenesia da valva pulmonar - 1 caso (4%). Nove pacientes pertenciam ao sexo masculino e 13 ao sexo feminino. A idade ao diagnóstico variou de 1 mês a 58 anos A sintomatologia variou de acordo com a patologia: infecção respiratória de repetição, estridor, cianose e dispneia foram os achados mais frequentes. Dos 22 pacientes estudados, 11 (50%) casos foram passíveis de correção cirúrgica. Conclusão: As malformações vasculares pulmonares são patologias raras, porém o pediatra deve tê-las em mente para se obter um diagnóstico precoce, propedêutica correta e se possível correção cirúrgica dessas patologias. (AU)


Objective: To evaluate the casuistry of vascular malformations in our division and to analyze the predominant clinical findings of these malformations. Methods: A survey was carried out searching for all cases of pulmonary vascular malformations diagnosed, from August 1986 to December 2003. Through the analysis of the medical records of these patients, the following variables were evaluated: structural pulmonary alteration, clinical presentation, mean age at diagnosis, gender and clinical evolution. Results: The pathologies found were: pulmonary sequestration - 6 cases (25%), agenesis and / or pulmonary hypoplasia - 7 cases (30%), arteriovenous fistulas - 4 cases (16%), vascular ring - 6 cases (25%) and pulmonary valve agenesis - 1 case (4%). Nine patients were male and 13 were female. Age at diagnosis ranged from 1 month to 58 years. The symptoms varied according to the pathology. The most frequent were recurrent respiratory infection, stridor, cyanosis, dyspnea. Of the 22 patients studied, 11 (50%) cases were amenable to surgical correction Conclusion: Pulmonary vascular malformations are rare pathologies, but pediatricians should keep them in mind to obtain an early diagnosis, correct propaedeutics and, if possible, surgical correction of these pathologies. (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , Vascular Malformations , Lung , Pediatrics , Congenital Abnormalities , Congenital Abnormalities/diagnosis
16.
Article in English, Portuguese | LILACS, SES-SP | ID: biblio-1136726

ABSTRACT

ABSTRACT Objective: To describe the reports of parents of newborns (NB) with congenital malformations hospitalized in a Neonatal Intensive Care Unit (NICU) who received bad news, in order to identify the issues related to the perception of bad news given adequately or inadequately. Methods: A cross-sectional study was conducted from January to October 2018, in which parents of newborns with congenital malformations hospitalized in NICUs were interviewed at visiting hours, according to inclusion criteria. The questionnaire had semi-structured questions related to reception of bad news. Analysis of the data was descriptive. Results: 28 mothers and two fathers were interviewed and 16 (53.3%) reported having had at least one bad news in the NICU. Of those, 10 (62.5%) considered appropriate the way in which the news was given. The justifications were: sincerity of the professional, delicacy to give the news, giving hope to the family, use of appropriate words and demonstration of caring about the newborn. Six participants (37.5%) considered inadequate the way of breaking bad news. The reasons were: unpreparedness and lack of knowledge about the child's case, use of difficult language, haste or anxiety and discouragement of family hope. Most of the news was given by a professional alone, often by a medical resident. Conclusions: The communication of bad news was considered adequate by the parents, although this perception was not unanimous. This study, therefore, indicates that it is necessary to improve the communication of bad news in this NICU. Training professionals can assist in this process.


RESUMO Objetivo: Descrever os relatos dos pais de recém-nascidos (RNs) com malformações congênitas internados em uma Unidade de Terapia Intensiva Neonatal (UTIN) a respeito de como receberam as más notícias, buscando identificar as questões relacionadas à percepção de uma má notícia fornecida de forma adequada ou inadequada. Métodos: Realizou-se estudo transversal de janeiro a outubro de 2018, no qual se entrevistaram pais de RNs portadores de malformações congênitas internados em UTIN selecionados segundo critérios de inclusão e presentes em horário de visita. O questionário utilizado tinha questões semiestruturadas pertinentes ao recebimento de más notícias. A análise foi descritiva. Resultados: Entrevistaram-se 28 mães e dois pais, dos quais 16 (53,3%) apontaram ter tido pelo menos uma má notícia na UTIN. Destes, 10 (62,5%) consideraram adequada a maneira de dar essa notícia. As justificativas foram: sinceridade do profissional, delicadeza para dar a notícia, dar esperança à família, uso de palavras adequadas e cuidado demonstrado com o RN. Seis participantes (37,5%) avaliaram como inadequada a comunicação de más notícias. Motivos foram despreparo e falta de conhecimento, uso de linguagem difícil, pressa ou ansiedade e desencorajamento de esperanças da família. A maior parte das notícias foi dada por um profissional sozinho, muitas vezes por um médico residente. Conclusões: A percepção da comunicação de más notícias foi considerada adequada por parte dos pais, embora não tenha sido unânime. Este estudo aponta ser necessário melhorar a comunicação dessas notícias na UTIN analisada. O treinamento dos profissionais, nesse sentido, pode auxiliar nesse processo.


Subject(s)
Humans , Male , Female , Infant, Newborn , Adolescent , Adult , Young Adult , Parents/psychology , Professional-Family Relations , Truth Disclosure , Congenital Abnormalities/diagnosis , Congenital Abnormalities/therapy , Intensive Care, Neonatal , Perception , Attitude to Health , Intensive Care Units, Neonatal , Cross-Sectional Studies , Prospective Studies
17.
Article in English | LILACS | ID: biblio-1057226

ABSTRACT

ABSTRACT Objective: For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil does not have a standardized and validated instrument for morphological physical examination. This study aimed to translate into Brazilian Portuguese and culturally adapt the clinical signs described in the Autism Dysmorphology Measure, as well as validate the instrument in a sample of children with autism. Methods: The original instrument was translated, culturally adapted, and published in full, following traditional procedures for translation, back-translation, and terminology adaptation according to the Nomina Anatomica. The sample included 62 children from a published multicenter study, with intelligence quotient between 50-69, of both genders, with chronological age between 3-6 years. Two clinical geneticists performed the morphological physical examination, which consisted of investigating 82 characteristics assessing 12 body areas. We used Cohen's Kappa coefficient to evaluate the agreement between the two observers. Results: The final version of the instrument - translated into Brazilian Portuguese and culturally adapted - showed high agreement between the two observers. Conclusions: The translated instrument meets all international criteria, and minor anomalies and their clinical descriptions were standardized and are recognizable for physicians not specialized in genetics.


RESUMO Objetivo: Entre 100 crianças, não selecionadas, com diagnóstico de autismo, pelo menos 20 apresentam anomalias morfológicas, quase sempre associadas a síndromes. Não há no Brasil instrumento de exame físico morfológico padronizado e validado. O objetivo foi traduzir para o português do Brasil e adaptar culturalmente os sinais clínicos descritos no Autism Dysmorphology Measure, assim como procurar evidências de validade quando aplicado a uma amostra de crianças com autismo. Métodos: Foram feitas a tradução e a adaptação cultural do instrumento original, publicado na íntegra. Foram adotados os procedimentos tradicionais de tradução, retrotradução e adaptação da terminologia segundo a Nomina Anatomica. Foram incluídas na amostra 62 crianças com quociente de inteligência entre 50 e 69, de ambos os sexos, com idade cronológica entre três e seis anos, provenientes de estudo multicêntrico com os procedimentos metodológicos já publicados. O exame físico morfológico foi realizado por dois médicos geneticistas e consistiu na pesquisa de 82 características que avaliam 12 áreas corporais. Para avaliar a concordância entre os dois observadores foi utilizado o coeficiente Kappa de Cohen. Resultados: A versão final do instrumento traduzido e adaptado culturalmente ao português do Brasil mostrou alta concordância entre os dois observadores. Conclusões: O instrumento traduzido preenche todos os critérios propostos internacionalmente e o reconhecimento das anomalias menores e sua descrição clínica estão padronizados e são de fácil reconhecimento aos médicos não especialistas em genética.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Physical Examination/methods , Congenital Abnormalities/diagnosis , Congenital Abnormalities/genetics , Adaptation, Psychological/physiology , Autism Spectrum Disorder/psychology , Translations , Brazil/epidemiology , Surveys and Questionnaires , Reproducibility of Results , Cultural Characteristics , Body Dysmorphic Disorders/psychology , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/genetics
18.
Rev. chil. obstet. ginecol. (En línea) ; 84(3): 236-244, jun. 2019. tab, graf, ilus
Article in Spanish | LILACS | ID: biblio-1020642

ABSTRACT

RESUMEN INTRODUCCIÓN: La ausencia congénita de vagina es una condición poco común, algunas causas son el síndrome de Mayer-Rokitansky-Kuster-Hauser y la insensibilidad periférica a los andrógenos. Múltiples técnicas quirúrgicas y no quirúrgicas se han descrito para el manejo de esta condición, siendo el objetivo principal la creación de un canal vaginal de diámetro y longitud adecuada que permitan restaurar la función coital. El objetivo de este estudio es detallar la experiencia del procedimiento de neovagina con la técnica quirúrgica de McIndoe en pacientes con Mayer-Rokitansky-Kuster-Hauser realizados en la Unidad de Uroginecología de la Clínica Universitaria Bolivariana. METODOLOGÍA: Reporte de 5 casos de pacientes con agenesia de vagina secundarios al síndrome de Mayer-Rokitansky-Kuster-Hauser, a las cuales se les realizó neovagina con la técnica de McIndoe con algunas modificaciones en el molde para el implante de piel. RESULTADOS: Se incluyeron cinco pacientes con diagnóstico de Mayer-Rokitansky-Kuster-Hauser, todas tenían desarrollo de características sexuales secundarias, perfil hormonal normal, y un cariotipo XX. Se utilizó la técnica quirúrgica de McIndoe para la realización de la neovagina sin complicaciones intraoperatorias asociadas y con adecuada evolución posoperatoria, con una longitud vaginal entre 7-9 cm y 3 pacientes con vida sexual activa. El tiempo de estancia hospitalaria fue 7 a 9 días. CONCLUSIÓN: La técnica quirúrgica de McIndoe es una opción para restaurar la función sexual en mujeres con agenesia vaginal con resultados favorables. El tiempo para decidir su realización es electivo, sin embargo, se debe contar con madurez física y emocional para ser llevado a cabo. Las pacientes de nuestro reporte tenían una edad promedio de 18 años.


SUMMARY INTRODUCTION: The congenital absence of the vagina is an uncommon condition, some causes are the Mayer-Rokitansky-Küster-Hauser syndrome and peripheral insensitivity to androgens. Multiple surgical and non-surgical techniques have been described for the management of this condition, being the main objective the creation of a vaginal canal of adequate diameter and length to restore coital function. The objective of this study is to detail the experience of the neovagina procedure with the McIndoe surgical technique performed in patients with Mayer-Rokitansky-Küster-Hauser syndrome at the Clinica Universitaria Bolivariana. METHODOLOGY: Report of five cases of patients with vaginal agenesis secondary to the Mayer-Rokitansky-Kuster-Hauser syndrome, who underwent neovagina with the McIndoe technique and some modifications in the mold for the skin implant. RESULTS: Five patients with diagnosis of Mayer-Rokitansky-Kuster-Hauser were included, all had development of secondary sexual characteristics, normal hormonal profile, and a XX karyotype. The McIndoe surgical technique was used to perform the neovagina without associated intraoperative complications and with adequate postoperative evolution, with a vaginal length between 7-9 cm and three patients with active sexual life. The length of hospital stay was 7 to 9 days. CONCLUSION: The McIndoe surgical technique is an option to restore sexual function in women with vaginal agenesis with favorable results. The time to decide its realization is elective, however, they must have the physical and emotional maturity to be carried out. The patients in our report have an average age of 18 years.


Subject(s)
Humans , Female , Adolescent , Adult , Congenital Abnormalities/surgery , Congenital Abnormalities/diagnosis , Congenital Abnormalities/genetics , Vagina/surgery , Gynecologic Surgical Procedures , Vagina/abnormalities , Surgically-Created Structures , 46, XX Disorders of Sex Development/surgery , Mullerian Ducts/abnormalities
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