Estrategia de superación para enfermeros residentes en Ginecoobstetricia dirigida a la prevención del riesgo genético

El artículo expone los fundamentos teóricos que sustentan la estrategia de superación para enfermeros residentes de la especialidad de Ginecobstetricia. Se orienta a la prevención del riesgo genético con énfasis en los defectos congénitos, temática necesaria para este especialista, pero poco abordada en los planes de estudio. El actual resultado constituye una salida del proyecto de investigación: "estrategia de superación para los profesionales de Enfermería sobre la prevención del riesgo genético". Se realizó en la Facultad de Tecnología de la Salud de la Universidad de Ciencias Médicas de Camagüey, en el periodo de enero 2020 a diciembre 2022. Para la construcción de los fundamentos referidos se emplearon métodos de investigación empíricos y teóricos. El objetivo consistió en exponer elementos de una estrategia de superación para enfermeros residentes en Ginecobstetricia dirigida a la prevención del riesgo genético. Los resultados demostraron las insuficiencias que existentes.

The article exposes the theoretical foundations that support the improvement strategy of the residents of the Gynecology and Obstetrics specialty aimed at the prevention of genetic risk with emphasis on congenital defects, a necessary theme for this specialist, but insufficiently addressed in the plans of study. The current result constitutes a departure from the research project Overcoming Strategy for Nursing professionals on the prevention of genetic risk, at the Technological Faculty of the University of Medical Sciences of Camagüey from January 2020 to December 2023. For the construction of the foundations referred to, empirical and theoretical research methods were used. For this reason, the objective of this work consisted in exposing elements of an overcoming strategy aimed at residents of the Gynecology and Obstetrics specialty for the at the prevention of genetic risk. The results demonstrated the insufficiencies that existed in this regard.

Características de la descendencia de gestantes diabéticas atendidas en el Hospital "Comandante Ciro Redondo García", Artemisa / Characteristics of the Offspring of Pregnant Women Who Received Attention in the Hospital Comandante Ciro Redondo García, of Artemisa

Introducción: Múltiples investigaciones demuestran el efecto teratogénico de la diabetes mellitus durante el embarazo, considerada causa frecuente de morbilidad fetal. Objetivo: Describir las características del producto de la concepción de mujeres con diabetes pregestacional o gestacional, atendidas en el Hospital Provincial Comandante Ciro Redondo García, de Artemisa. Métodos: Se realizó un estudio observacional, descriptivo, transversal, en la Provincia Artemisa, Cuba, en el período de febrero 2016 a febrero 2018, en 316 mujeres con diabetes mellitus durante su gestación. La información se obtuvo mediante revisión documental y entrevista, conservando los datos en hoja de cálculo Excel. Resultados: El 69,9 por ciento de las pacientes diabéticas estudiadas presentaron morbilidades en su descendencia, entre las que predominaron los defectos congénitos en 139 casos; 34 neonatos macrosómicos; 21 pretérminos; 9 con retardo del crecimiento intrauterino y 5 fallecidos antes del año de vida. La diabetes, tanto pregestacional como gestacional, se relacionó con afecciones en la descendencia; sin embargo, un control preconcepcional adecuado de la enfermedad redujo el riesgo de tener hijos afectados. Los defectos congénitos fueron la alteración más frecuente cuando la madre padecía diabetes pregestacional. Si la diabetes materna era gestacional los hijos presentaron con frecuencia macrosomía y otras anomalías asociadas. Conclusiones: Alrededor de 70 de cada 100 mujeres diabéticas presentan morbilidades en su descendencia. Si la diabetes materna no es controlada antes de la concepción, estas morbilidades en sus hijos son predominantemente defectos congénitos con posible origen disruptivo, mientras que la diabetes gestacional se relaciona más con recién nacidos macrosómicos(AU)

Introduction: Multiple investigations show the teratogenic effect of diabetes mellitus during pregnancy, being considered a frequent cause of fetal morbidity. Objective: To describe the characteristics of the offspring of women with pregestacional or gestational diabetes who received attention at the Hospital Provincial Comandante Ciro Redondo García of Artemisa. Methods: An observational, descriptive, cross-sectional and descriptive study was conducted in Artemisa Province, Cuba, in the period from February 2016 to February 2018, with 316 pregnant women with diabetes mellitus. The information was obtained through documentary review and interview; the data were kept in an Excel spreadsheet. Results: 69.9 percent of the studied diabetic patients presented morbidities in their offspring, among which congenital defects predominated, accounting for 139 cases; 34 were macrosomic neonates; 21 were preterm; 9 presented intrauterine growth retardation; and 5 died within one year of life. Diabetes, both pregestational and gestational, was associated with conditions in the offspring; however, adequate preconception control of the disease reduced the risk for having affected children. Congenital defects were the most frequent alteration when the mother had pregestational diabetes. If maternal diabetes was gestational, the offspring frequently presented macrosomia and other associated anomalies. Conclusions: About 70 out of 100 diabetic women present morbidities in their offspring. If maternal diabetes is not controlled before conception, these morbidities in their offspring are predominantly congenital defects with a possible disruptive origin, while gestational diabetes is more related to macrosomic newborns(AU)

Prevalencia de cardiopatías congénitas en un hospital de segundo nivel que ameritaron tratamiento quirúrgico / Prevalence of surgical treatment in congenital heart disease

Resumen Objetivo: Determinar la prevalencia de cardiopatías congénitas (CC) en un hospital de segundo nivel que ameritaron tratamiento quirúrgico. Material y métodos: Estudio descriptivo, realizado en pacientes con diagnóstico de CC en una unidad de segundo nivel de atención del Instituto Mexicano del Seguro Social (IMSS) en Puebla, México durante el periodo de 2016-2017, se incluyeron expedientes de recién nacidos (RN) a término hasta los 14 años, analizando variables sociodemográficas, tipo de CC y corto circuito, presencia de anomalías asociadas y envío a un tercer nivel de atención para tratamiento quirúrgico. La información fue recolectada y analizada mediante el programa SPSS Statistics v25. Resultados: La prevalencia hospitalaria de CC que requirieron envío a tercer nivel de atención para tratamiento quirúrgico fue 6.8% en 2016 y 6.6% en 2017, la mediana de edad fue 1 año. El 77.2% de las CC fueron acianógenas, la persistencia del conducto arterioso (PCA) fue el corto circuito más frecuente y 19.2% presentó síndrome de Down como anomalía congénita asociada. Conclusión: Obtuvimos una prevalencia similar a otras regiones de México, siendo las CC acianógenas la causa más frecuente de los tratamientos quirúrgicos. La detección y referencia oportuna mejorara la atención y calidad de vida en estos pacientes.

Abstract Objective: To determine the prevalence of congenital heart disease (CHD) in a second level hospital that required surgical treatment. Material and methods: Descriptive study carried out in patients diagnosed with CHD in a second level hospital of the Mexican Social Security Institute (IMSS) in Puebla, Mexico during the period 2016-2017. Records of full-term newborns (NB) up to 14 years of age analyzing sociodemographic variables, type of CHD and short-circuit, presence of associated anomalies, and referral to a third level hospital for surgical treatment were included. Data were collected and analyzed using the SPSS Statistics v25 program. Results: The hospital prevalence of CHD that required referral to the third level hospital for surgical treatment was 6.8% in 2016 and 6.6% in 2017; the median age was 1 year. The 77.2% of CHDs were non-cyanotic, patent ductus arteriosus (PDA) was the most common shunt, and 19.2% had Down syndrome as an associated congenital anomaly. Conclusion: We obtained a similar prevalence to other regions of Mexico, with acyanotic CHD being the most frequent cause of surgical treatments. Timely detection and referral will improve care and quality of life in these patients.

A Case Report of Fanconi Anemia: A Literature Review and Dental Perspective of Rare Disease

Introduction: Fanconi Anaemia (FA) is a very rare genetic disease characterised by genetic alterations, which causes con- genital abnormalities in individuals. This clinical case report of Fanconi anaemia, will review classical signs of the disease in detail. The various aspects of this rare condition are examined, with an emphasis on oral manifestations and their impact on af- fected patients overall health. Since this group is more likely to acquire cancers, paediatric dentists must be aware of common oral symptoms and possibly malignant lesions in order to make an early diagnosis and provide thorough care and maintenance of oral health to those who are affected. Case Presentation: A four-year-old female patient was brought by her parents to the Department of Pediatric and Preventive Dentistry, Yenepoya Dental college, with a chief complaint of pain in the upper back tooth region. The child had already been diagnosed with FA. Conclusion: Patients with FA are more prone to get infections, so proper precautions should be taken to avoid any situation that might put them at risk of infection or bleeding. Patients should be motivated to have regular follow-ups and encourage them to maintain good periodontal health, to help prevent the incidence of caries and to monitor their overall oral wellbeing.

Caracterización de pacientes con fisura labiopalatina / Characterization of Patients with Cleft Lip and Palate

Introducción: Las fisuras labiopalatinas son los defectos congénitos más frecuentemente atendidas en los servicios de cirugía maxilofacial pediátricos. Estas aparecen precozmente en la vida intrauterina durante el período embrionario e inicio del período fetal. Objetivo: Examinar las características clínicas de pacientes con fisuras labiopalatinas. Métodos: Estudio descriptivo, retrospectivo y transversal. El universo de estudio quedó conformado por 91 historias clínicas de pacientes atendidos en el departamento de Cirugía Maxilofacial del Hospital Pediátrico Universitario William Soler Ledea en La Habana, entre 2015 y 2019. Las variables medidas fueron edad, sexo, tipo de fisura, defectos congénitos aislados y defectos congénitos múltiples. Resultados: Predominaron las féminas con 57,1 por ciento y las edades menores de un año para el 54,9 por ciento. Las fisuras palatinas aisladas se presentaron con mayor frecuencia (39,6 ciento) y las fisuras labiales del lado izquierdo se mostraron en 18 pacientes (32,7 ciento). El defecto congénito aislado más usual resultó la comunicación interventricular (4,4 ciento) y el defecto congénito múltiple resultó el síndrome de Goldenhar (5,5 ciento). Conclusiones: En los niños estudiados con fisuras labio palatinas existió predominio del sexo femenino, fundamentalmente, en las niñas con menos de cinco años. La fisura palatina aislada resultó la más frecuente; un pequeño grupo de pacientes presentó defectos congénitos asociados, sobre todo cardiovasculares; y los defectos congénitos múltiples se vincularon con mayor frecuencia con las fisuras palatinas aisladas(AU)

Introduction: Cleft lip and palate are the most frequently seen congenital defects in pediatric maxillofacial surgery services. They appear early in intrauterine life during the embryonic and early fetal period. Objective: To examine the clinical characteristics of patients with cleft lip and palate. Methods: Descriptive, retrospective and cross-sectional study. The study universe consisted of 91 clinical histories of patients attended at the Maxillofacial Surgery Department of "William Soler Ledea" University Pediatric Hospital in Havana, between 2015 and 2019. The variables measured were age, sex, type of cleft, isolated congenital defects and multiple congenital defects. Results: Females predominated with 57.1 prencent and ages younger than one year (54.9 precent). Isolated cleft palates were more frequent (39.6 precent) and left-sided lip clefts were present in 18 patients (32.7 precent). The most usual isolated congenital defect was ventricular septal defect (4.4 precent) and multiple congenital defect resulted in Goldenhar syndrome (5.5 precent). Conclusions: In the children studied with cleft lip and palate there was a predominance of the female sex, mainly in girls under five years of age. Isolated cleft palate was the most frequent; and small group of patients presented cleft palate defects (AU)

Diagnóstico prenatal de triploidía. Reporte de un caso y revisión de la literatura / Prenatal Diagnosis of Triploidy. Case Report and Literature Review

RESUMEN La triploidía es una alteración cromosómica numérica letal caracterizada por un complemento cromosómico haploide adicional, el 99,9 % de estas se pierde entre el primer y segundo trimestre del embarazo y el 15 % de los fetos terminan en abortos espontáneos antes de las 20 semanas. Se presenta el caso de una paciente de 27 años con 23,2 semanas de gestación que fue remitida al Centro Provincial de Genética Médica de Cienfuegos con sospechas por ultrasonido de malformaciones fetales. Se corroboró el diagnóstico de morfología craneana anómala con ausencia del vermis cerebeloso, presencia del cuarto ventrículo, ausencia de cavum septum pellucidum, morfología cardíaca anómala, válvulas al mismo nivel y comunicación interventricular alta. Se propuso el diagnóstico prenatal cromosómico, su resultado fue feto con fórmula cromosómica 69,XXY. Se planteó la interrupción voluntaria del embarazo. El informe de anatomía patológica reportó que el feto presentaba los siguientes defectos congénitos: hipoplasia cerebelosa y agenesia del vermis cerebeloso, ventrículomegalia y cardiopatía compleja tipo canal atrioventricular. El objetivo de esta presentación es describir un caso de poliploidía tipo triploidía en líquido amniótico. Se presenta el caso debido a lo poco frecuente de esta condición genética entre los fetos vivos en el segundo trimestre del embarazo.

ABSTRACT Triploidy is a lethal numerical chromosomal alteration characterized by an additional haploid chromosomal complement, 99.9 % of these are lost between the first and second trimesters of pregnancy and 15 % of fetuses end in spontaneous abortions before 20 weeks. We present the case of a 27-year-old patient with 23.2 weeks of gestation who was referred to the Provincial Center of Medical Genetics of Cienfuegos with suspicion by ultrasound of fetal malformations. The diagnosis of abnormal cranial morphology was corroborated with absence of the cerebellar vermis, presence of the fourth ventricle, absence of cavum septum pellucidum, abnormal cardiac morphology, valves at the same level, and high ventricular septal defect. Chromosomal prenatal diagnosis was proposed, its result was fetus with chromosomal formula 69, XXY. Voluntary termination of pregnancy was considered. The pathology report reported that the fetus had the following congenital defects: cerebellar hypoplasia and agenesis of the cerebellar vermis, ventriculo-megaly, and complex atrioventricular canal-type heart disease. The objective of this presentation is to describe a case of triploidy-type polyploidy in amniotic fluid. The case is presented due to the infrequency of this genetic condition among live fetuses in the second trimester of pregnancy.

Defectos congénitos diagnosticados por ultrasonografía bidimensional / Congenital Defects Diagnosed by Bidimensional Ultrasonography

Introducción: La ecografía es la principal herramienta para el diagnóstico de los defectos congénitos, especialmente los estructurales, mediante un examen interno y externo de la anatomía fetal. Objetivo: Caracterizar el comportamiento de los defectos congénitos diagnosticados por ultrasonografía prenatal. Métodos: Se realizó un estudio descriptivo, longitudinal, en el municipio Santiago de Cuba, 2006-2017. Se excluyeron las enfermedades genéticas. La muestra estuvo conformada por 967 gestantes con diagnóstico confirmado de defectos congénitos estructurales en el feto. Se clasificaron las anomalías por sistemas y se valoró la conducta terapéutica seguida. La información se procesó de forma computarizada, los resultados fueron expresados en valores absolutos, porcentuales y mostrados en tablas. Resultados: En el periodo estudiado, 2,1 por ciento de la muestra tenía historia anterior de interrupción voluntaria electiva, la prevalencia ajustada por defectos congénitos observada fue de 10,1 por cada 1000 nacidos vivos. La edad gestacional avanzada represento el 50,9 por ciento de los casos en seguimiento; de los cuales, 6,1 por ciento terminó en óbito fetal. El porcentaje de interrupción voluntaria electiva alcanzó el 64,4 por ciento de la muestra, Los hallazgos ecográficos más frecuentes fueron: alteraciones del sistema nervioso central (23,4 por ciento), sistema genitourinario (25,2 por ciento) y cardiovascular (18,1 por ciento). Los defectos faciales fueron los menos diagnosticados (1,1 por ciento). Entre los del sistema nervioso predominó la hidrocefalia (51,7 por ciento), los defectos septales dentro de los cardiovasculares (28,0 por ciento) y la hidronefrosis (66,0 por ciento) en las genitourinarias. Conclusiones: Se constató que la ultrasonografía prenatal permitió un mejor control de la gestación, al contribuir en el reconocimiento de un gran número de defectos congénitos, especialmente estructurales, durante la vida intrauterina y, con ello, contribuir a la disminución de la morbiletalidad perinatal(AU)

Introduction: Ultrasound is the main tool for diagnosis of congenital defects, especially structural ones, by means of an internal and external examination of the fetal anatomy. Objective: To characterize congenital defects diagnosed by prenatal ultrasonography. Methods: A longitudinal, descriptive study was carried out in Santiago de Cuba Municipality, covering the period 2016-2017. Genetic diseases were excluded. The sample consisted of 967 pregnant women with confirmed diagnosis of fetal structural congenital defects. The anomalies were classified by systems and the therapeutic behavior followed was assessed. The information was processed in a computerized way. The results were expressed in absolute values and percentages, as well as shown in tables. Results: In the period studied, 2.1 percent of the sample had a previous history of elective voluntary abortion. Adjusted prevalence for congenital defects was observed to be 10.1 per thousand live births. Advanced gestational age accounted for 50.9 percent of the cases under follow-up, of which 6.1 percent were stillbirths. The percentage of elective voluntary abortion reached 64.4 percent of the sample. The most frequent ultrasound findings were alterations of the central nervous system (23.4 percent), the genitourinary system (25.2 percent) and cardiovascular ones (18.1 percent). Facial defects were the least diagnosed (1.1 percent). Among those corresponding to the nervous system, there was a predominance of hydrocephalus (51.7 percent); septal defects predominated among cardiovascular ones, accounting for 28.0 percent; and hydronephrosis (66.0 percent) predominated among genitourinary ones. Conclusions: Prenatal ultrasonography was found to allow better pregnancy control, by contributing to the recognition of a large number of congenital defects, especially structural ones, during intrauterine life, a fact contributing to the reduction of perinatal morbidity and mortality(AU)

Síndrome de Ellis Van Creveld / Ellis Van Creveld syndrome

Resumen El síndrome de Ellis van Creveld es un trastorno autosómico recesivo, caracterizado por mutaciones en los genes ECV y ECV2, los cuales son importantes para el desarrollo osteocondral. A nivel mundial, se han reportado aproximadamente 300 casos ,presentándose con mayor frecuencia en poblaciones endogámicas. Se caracteriza por distrofias óseas, displasias ectodérmicas y malformaciones cardíacas. El diagnóstico clínico puede ser confirmado mediante pruebas moleculares. A continuación, se presenta el caso de una paciente diagnosticada con el síndrome, la cual fue evaluada de manera interdisciplinaria. Esta revisión permitió dar a conocer un nuevo caso de la patología, relacionar las manifestaciones clínicas de la paciente con la literatura y describir nuevos hallazgos que pueden correlacionarse con el síndrome.

Abstract Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.

Síndrome Nance-Horan, cataratas congénitas y anomalías dentales / Nance-Horan syndrome, congenital cataracts and dental anomalies

RESUMEN Introducción: La presencia de estructuras dentofaciales atípicas puede ser el primer indicador de otros defectos congénitos relacionados con síndromes también de origen genético. El síndrome Nance-Horan es un trastorno monogénico ligado al cromosoma X, caracterizado fenotípicamente por alteraciones dismorfológicas dentales y craneofaciales distintivas, cataratas congénitas y déficit cognitivo. Objetivo: Describir un caso inusual de anomalías dentarias en el curso del síndrome Nance-Horan. Presentación de caso: Paciente de 13 años de edad, masculino, de piel blanca. Al examen clínico se constató un patrón dismórfico dado por facies alargada y estrecha, orejas prominentes con anteversión de la aurícula, nariz grande con puente nasal alto, diastema generalizado en ambas arcadas, todos los dientes con anomalías de forma y microdónticos. En el estudio radiológico periapical se constataron raíces cortas y cámaras pulpares amplias. Los antecedentes patológicos personales de nuestro paciente, el patrón dismórfico cráneo facial y las radiografías coinciden con características de otros casos de síndrome Nance-Horan reportados en la literatura. La mutación del gen síndrome Nance-Horan se expresa completamente solo en los varones. Como los varones son hemicigóticos para los genes ligados al cromosoma X, basta con una copia del alelo mutado para que aparezca una enfermedad de herencia recesiva ligada al sexo. Conclusiones: Se evidenció que es de crucial importancia realizar un cuidadoso examen, tanto clínico como radiográfico, de los pacientes con anomalías dentales. Se insiste en el trabajo mancomunado entre diferentes disciplinas y especialidades, tanto médicas como estomatológicas(AU)

ABSTRACT Introduction: The presence of atypical dentofacial structures may be the first indicator of other congenital defects related to syndromes of likewise genetic origin. Nance-Horan syndrome is a monogenic X linked disorder phenotypically characterized by distinctive dysmorphic dental and craniofacial alterations, congenital cataracts and cognitive deficit. Objective: Describe an unusual case of dental anomalies in the course of Nance-Horan syndrome. Case presentation: A case is presented of a white male 13-year-old patient. Clinical examination revealed a dysmorphic pattern characterized by long narrow facies, prominent ears with auricular anteversion, a big nose with a high nasal bridge, generalized diastema in both arches, and all the teeth microdontic and abnormally shaped. Periapical radiological examination found short roots and broad pulp chambers. The personal pathological antecedents of the patient, the dysmorphic craniofacial pattern and the radiographs correspond to characteristics of other cases of Nance-Horan syndrome reported in the literature. Mutation of the Nance-Horan syndrome gene is completely expressed only in males. Since males are hemizygous for X linked genes, one copy of the mutated allele is sufficient for the appearance of a sex-linked recessive inheritance disease. Conclusions: Evidence was found of the crucial importance of conducting careful examination, both clinical and radiographic, of patients with dental anomalies. Emphasis is placed on the joint work of various disciplines and specialties, both medical and dental(AU)

Placenta mórbidamente adherente asociada a malformaciones congénitas: reporte de caso / Morbidly adherent placenta associated with congenital malformations: a case report

INTRODUCCIÓN: Las alteraciones en la placentación son causa importante de morbilidad materna y neonatal y, en ocasiones, de mortalidad. La literatura científica menciona la posible asociación entre acretismo placentario y alteraciones en los parámetros bioquímicos para aneuploidía, sin descripciones de casos en que coincidan estos dos hallazgos. OBJETIVO: Este es un reporte de caso de una gestante con placenta percreta y producto con trisomía 13 REPORTE DE CASO: Gestante de 34 años, gesta 4 cesáreas 2, abortos 1, vivos 2, con embarazo de 20.4 semanas, sin antecedentes de importancia, con hallazgos en ecografía de iii nivel de alteraciones morfológicas en el sistema nervioso central, onfalocele, malformación cardiaca y deformidades en miembros. Con doppler de placenta que evidencia placenta mórbidamente adherida variedad percreta; hallazgos ecográficos confirmados con el estudio anatomopatológico. CONCLUSIONES: La trisomía 13 es una condición genética que debido a las múltiples malformaciones asociadas se considera incompatible con la vida, la placenta mórbidamente adherida se ha asociado con morbimortalidad neonatal y fetal, la no evidencia en la literatura de estas dos condiciones asociadas puede ser debido a la interrupción temprana de las gestaciones en las que se confirma el primer diagnóstico.

BACKGROUND: Alterations in placentation are an important cause of maternal and neonatal morbidity and, sometimes, deaths. The scientific literature mentions the possible association between placental accreta and alterations in the biochemical parameters for aneuploidy, without descriptions of cases in which these two findings coincide. OBJECTIVE: This is a case report of a pregnant woman with placenta percreta and trisomy 13, in which an ultrasound and pathological analysis were made. The use of keywords, in different databases, did not yield information that directly comply with these associations. CASE REPORT: A 34-year-old pregnant woman, G4C2A1V2 with a 20.4-week pregnancy, without significant medical records, with findings at III level ultrasound of morphological alterations of the central nervous system, omphalocele, cardiac malformation and limb deformities. Also, with placental Doppler that evidences morbidly adhered placenta variety percreta; ultrasound findings confirmed with the pathological study. CONCLUSION: The morbidly adhered placenta has been associated with neonatal and fetal mortality, in which some of the identified causes of fetal death are congenital anomalies. This way this case report allows for the first time to describe the association of placental accreta with aneuploidy, type trisomy 13, demonstrated by the morphological alterations of the pathological and karyotype study.

Validación de un cuestionario sobre factores de riesgo para defectos congénitos / Validation of a questionnaire about risk factors for congenital defects

Introducción: Los defectos congénitos constituyen la primera causa de muerte infantil en los países desarrollados y la segunda en muchos países en vías de desarrollo. Objetivo: Validar un cuestionario sobre factores de riesgo para defectos congénitos relacionados con la deficiencia de ácido fólico. Métodos: El proceso de validación se basó en un proceso dinámico de retroalimentación y toma de decisiones cambiante, de acuerdo al criterio de expertos, para lo que se utilizó el método Delphi, el cual constó de tres etapas: selección de los expertos, análisis y validación de cada uno de los ítems por parte de los expertos y su posterior reevaluación y, por último, la realización de un estudio piloto. En el proceso de validación del cuestionario se calculó el coeficiente de concordancia de Kendall y Friedman con el objetivo de determinar concordancia o similitudes de las respuestas de los evaluadores respectivamente. Resultados: Se seleccionaron 18 expertos con altos niveles de competencia de acuerdo al cálculo de los coeficientes de conocimiento y argumentación. En la segunda versión del cuestionario existió similitud en las respuestas de los expertos a favor de la categoría superior de muy bien, así como concordancia en el nivel de respuesta de los expertos. Conclusiones: El cuestionario diseñado dispone de niveles óptimos de validez de contenido y factibilidad para identificar los factores de riesgo para defectos congénitos sensibles a la deficiencia de ácido fólico(AU)

Introduction: Congenital defects are the leading cause of child mortality in developed countries and the second in many developing countries. Objective: Validate a questionnaire about risk factors for congenital defects related to folic acid deficiency. Methods: Validation was based on a dynamic process of feedback and changing decision-making geared by expert criteria for which use was made of the Delphi method in three stages: selection of experts, analysis and validation of each item by the experts and further re-evaluation, and conduct of a pilot study. Kendall and Friedman's coefficient of concordance was estimated to determine the agreement or similarities between the answers provided by the evaluators. Results: Eighteen highly-qualified experts were selected based on the knowledge and argumentation coefficients estimated. In the second version of the questionnaire the answers provided by experts coincided in awarding the higher category of 'very good', and there was concordance in the experts' response level. Conclusions: The questionnaire designed is characterized by optimal levels of content validity and feasibility to identify risk factors for congenital defects related to folic acid deficiency(AU)

Treze anos de análises citogenéticas no Laboratório de Genética Médicado Hospital Universitário Professor Edgard Santos / Thirteen years of cytogenetic analysis at Laboratory of Medical Genetics of University Hospital Professor Edgard Santos

Introdução: as anormalidades cromossômicas constituem uma das maiores categorias de doenças genéticas e são causa significativa de deficiência intelectual, déficit pôndero-estatural, malformações congênitas e dismorfismos faciais. Este trabalho é um estudo retrospectivo longitudinal de análises cromossômicas realizadas no Laboratório de Genética Médica do Complexo Hospitalar Universitário Professor Edgard Santos (UFBA). Objetivos: identificar os motivos de encaminhamento, os resultados citogenéticos do público atendido entre 2005 e 2017, e a taxa de diagnóstico etiológico obtido pelo cariótipo e pela FISH. Metodologia: foram encaminhados 3.863 pacientes, com suspeita clínica de cromossomopatias. As análises genéticas foram realizadas a partir de cultura de linfócitos e posterior bandamento G e/ou Hibridação in situ por fluorescência (FISH). Os dados dos pacientes foram obtidos através das fichas de encaminhamento e das análises cromossômicas. Resultados: o principal motivo de encaminhamento foi dismorfologias e/ou deficiência intelectual seguida de suspeita da Síndrome de Down e Síndrome de Turner, confirmadas em 14% e 4% da amostra, respectivamente. Foi possível concluir o diagnóstico etiológico em 904 casos (24,5%). Discussão: a confirmação etiológica das anomalias congênitas é extremamente importante para o prognóstico do paciente, sendo necessário investimentos em testes citomoleculares, como a FISH e o microarray, visando ampliar a taxa de diagnóstico. Conclusão: o cariótipo Banda G concluiu o diagnóstico clínico em 23.3% dos pacientes, compatível com a frequência das síndromes mais comumente diagnosticadas por esse teste, enquanto que a FISH conseguiu adicionar diagnóstico etiológico em mais 1,2% dos casos, esses envolvidos com as síndromes de microdeleções.

Introduction: chromosomal abnormalities constitute one of the major categories of genetic diseases and are a significant cause of intellectual deficiency, weight deficit, congenital malformations and facial dysmorphisms. This work is a retrospective longitudinal study of chromosomal analysis performed at the Laboratory of Medical Genetics of the University Hospital Complex Professor Edgard Santos (UFBA). Objectives: to identify the referral motives, the cytogenetic results of the public served between 2005 and 2017, and the etiological diagnosis rate obtained by the karyotype and FISH. Methodology: 3,863 patients were referred, with clinical suspicion of chromosomal disorders. Genetic analyzes were performed from lymphocyte culture and subsequent G banding and / or fluorescence in situ hybridization (FISH). Patient data were obtained through referral forms and chromosome analysis. Results: the main reason for referral was dysmorphologies and / or intellectual disability followed by Down Syndrome and Turner Syndrome, confirmed in 14% and 4% of the sample, respectively. It was possible to conclude the etiological diagnosis in 904 cases (24.5%). Discussion: the etiologic confirmation of congenital anomalies is extremely important for the prognosis of the patient, and investments in cyto-molecular tests, such as FISH and microarray, are necessary to increase the diagnostic rate. Conclusion: the G-band karyotype concluded the clinical diagnosis in 23.3% of the patients, compatible with the frequency of syndromes most commonly diagnosed by this test, while FISH was able to add an etiological diagnosis in another 1.2% of cases, those involved with microdeletion syndromes

Incidencias de las malformaciones congénitas renales fetales diagnosticadas por ultrasonografía bidimensional / Incidents of fetal renal congenital malformations diagnosed by two-dimensional ultrasonography

Introducción: Las malformaciones congénitas, como defectos estructurales primarios de un órgano, parte de él o de zonas más extensas del organismo, resultan de una alteración inherente en el desarrollo, que se hace evidente al examen físico del feto y del recién nacido, antes o posterior al nacimiento, cuando se hace patente el defecto funcional de un órgano interno afectado anatómicamente. Objetivo: Caracterizar las malformaciones congénitas renales fetales diagnosticadas por ultrasonografía bidimensional, atendidas durante 2015 y 2016. Métodos: Se realizó un estudio descriptivo, longitudinal y prospectivo en el Centro Provincial de Genética Médica de Santiago de Cuba. Se seleccionó la muestra por el método aleatorio simple para un total de 59 gestantes (34 de 2015 y 25 de 2016), a las que se les diagnosticó algún tipo de malformación congénita renal embriofetal. Resultados: La malformación congénita renal que predominó fue la hidronefrosis, seguida de riñón poliquístico. En los hallazgos morfológicos por ecosonografía predominaron las afecciones del parénquima renal. El sexo fetal de mayor incidencia fue el masculino. La edad gestacional donde incidieron las afecciones renales en gestantes fue de 25 y más semanas, con edad materna entre 20 y 35 años, sin reportar factores genéticos. Los factores de riesgo externos de origen materno que más incidieron fueron la hipertensión arterial, el hábito de fumar y la diabetes. Conclusiones: Se mostraron los principales hallazgos morfológicos ultrasonográficos de los diferentes tipos de malformaciones congénitas renales encontradas, así como se identificaron los diferentes factores de riesgo presentes en las embarazadas. Se observó un predominio de las gestantes a temprana edad con hidronefrosis como el tipo de malformación congénita más frecuente(AU)

Introduction: Congenital malformations, as primary structural defects of an organ, part of it or larger areas of the organism, result from an inherent alteration in development, which is evident from the physical examination of the fetus and the newborn, before or after birth, when the functional defect of an anatomically affected internal organ becomes apparent. Objective: To characterize fetal renal congenital malformations diagnosed by two-dimensional ultrasonography during 2015 and 2016. Methods: A descriptive, longitudinal and prospective study was conducted at the Provincial Center of Medical Genetics in Santiago de Cuba. The sample was selected by simple random method for a total of 59 pregnant women (34 from 2015 and 25 from 2016). They were diagnosed with some type of embryo-fetal renal congenital malformation. Results: The congenital renal malformation that predominated was hydronephrosis, followed by polycystic kidney. In the morphological findings by echocardiography, renal parenchymal conditions predominated. Male fetal sex had the highest incidence. The gestational age where renal conditions affected pregnant women was 25 weeks and more, with maternal age ranging 20 and 35 years, without reporting genetic factors. Smoking and diabetes were the external risk factors of maternal origin that most affected high blood pressure. Conclusions: The main ultrasonographic morphological findings of the different types of congenital renal malformations found were shown, as well as the different risk factors present in pregnant women. A predominance of pregnant women at early age with hydronephrosis was observed as the most common type of congenital malformation(AU)

Spatial and Spatio-temporal Analysis of Congenital Malformations of Nervous System in the State of Paraíba from 2010 to 2016 / Análise espacial e espaço-temporal das anomalias congênitas do sistema nervoso no Estado da Paraíba entre os anos de 2010 a 2016

INTRODUCTION: In Brazil, congenital malformation anomaly of the nervous system has been the most frequent among the anomalies. Knowledge of your geographical distribution both in space as throughout the time, can assist public managers in the decision-making process about the areas that must be prioritized for the monitoring of this disease. OBJECTIVE: Detecting spatial and spatio-temporal clusters of congenital malformations of nervous system. METHODS: An ecological study based on secondary data from the National Information System on Live Births in the period from 2010 to 2016 in the state of Paraíba. We estimated the spatial incidence ratios and applied circular and spatio-temporal Scan statistics to detect clusters with of abovementioned malformations. RESULTS: The spatial pattern was different throughout the years of the occurrence of these malformations, since the spatial clusters were detected on different regions of the state, except in the years 2013 and 2015, which revealed a higher concentration in the central-west and northwest regions of the state. The retrospective spatio-temporal analysis revealed three clusters that persisted during the years of 2015 and 2016. CONCLUSION: The findings indicated the regions that must be prioritized for the monitoring of congenital malformations of nervous system in the state of Paraíba in time and space.

INTRODUÇÃO: No Brasil, a anomalia congênita do sistema nervoso tem sido a mais frequente dentre as anomalias. O conhecimento da sua distribuição geográfica, tanto no espaço quanto ao longo do tempo, pode auxiliar os gestores públicos no processo de tomada decisão sobre as áreas que devem ser priorizadas no monitoramento dessa doença. OBJETIVO: Detectar aglomerados espaciais e espaço-temporais das anomalias congênitas do sistema nervoso. MÉTODO: Estudo ecológico a partir de dados secundários do Sistema de Informações sobre Nascidos Vivos no período de 2010 a 2016 no estado da Paraíba. Foram estimadas as Razões de Incidências Espacial e aplicada a estatística Scan circular e Scan espaço-temporal para a detecção dos aglomerados das anomalias citadas anteriormente. RESULTADOS: O padrão espacial foi diferente ao longo dos anos da ocorrência destas anomalias, uma vez que os aglomerados espaciais foram detectados em diferentes regiões do estado, exceto nos anos 2013 e 2015 que foi verificada uma maior concentração nas regiões do centro-oeste e noroeste do estado. CONSLUSÃO: Os achados indicaram as áreas que devem ser priorizadas para o monitoramento de anomalias congênitas do sistema nervoso no estado da Paraíba, tanto no tempo quanto no espaço.

Repercussões do diabetes mellitus no feto: alterações obstétricas e malformações estruturais / Repercussions of diabetes mellitus in the fetus: obstetric changes and structural malformations

Atualmente o número de pessoas afetadas pelo diabetes mellitus (DM) está aumentando, principalmente devido ao aumento do envelhecimento populacional e de comorbidades como obesidade e hipertensão. Para o ano de 2030, é estimado que o DM seja a sétima doença mais prevalente e a sétima causa de morte no mundo. O DM pré-gestacional (DMPG) e o DM gestacional (DMG) podem causar danos ao desenvolvimento fetal e à saúde materna. O objetivo do presente estudo foi analisar a influência do DMPG e do DMG sobre o surgimento de complicações durante a gestação e no desenvolvimento de malformações congênitas (MCs). Foi realizada uma pesquisa de literatura no banco de dados do PubMed. Foram analisados estudos em humanos e animais, publicados entre janeiro de 2012 e junho de 2017. Foram encontradas 131 publicações, das quais 73 foram utilizadas. Os estudos analisados demonstraram que o DMPG e o DMG estão associados a um aumento das complicações gestacionais e ao risco de desenvolver MCs. O DMPG e o DMG estão associados a um aumento no risco de desenvolver MCs nos sistemas cardiovascular, nervoso, genital, esquelético e urinário. As malformações cardíacas são as mais relatadas; dentre as quais, destacam-se os defeitos septais. Esta revisão conclui que o DM na gravidez deve ser prevenido principalmente na fase de organogênese, por meio do controle de peso e do sedentarismo materno, com o diagnóstico precoce das alterações hiperglicêmicas, tendo o intuito de evitar uma epidemia de morbimortalidade em gerações afetadas pelo diabetes no período gestacional. (AU)

Currently the number of people affected by diabetes mellitus (DM) is increasing, mainly due to the increase of the aging population and of comorbidities such as obesity and hypertension. By the year 2030 it is estimated that DM is the seventh most prevalent disease and the seventh cause of death in the world. Pre-gestational DM (PGDM) and gestational DM (GDM) can cause damage to fetal development and maternal health. Objective of the present study was to analyze the influence of PGDM and GDM on the development of complications during pregnancy and the development of congenital malformations (MCs). A literature search was made on the PUBMED database. We analyzed human and animal studies, published between January 2012 and June 2017. We found 131 publications, of which 73 were used. Studies have shown that DMPG and DMG are associated with an increase in gestational complications and the risk of developing MCs. DMPG and DMG in pregnancy is associated with an increased risk of developing MCs in the cardiovascular, nervous, genital, skeletal, and urinary systems. Cardiac malformations are the most frequently reported, among which septal defects are prominent. This review concludes that DM in pregnancy should be prevented mainly in the organogenesis phase, with weight control and maternal sedentarism and with the early diagnosis of hyperglycemic alterations, in order to avoid an epidemic of morbidity and mortality in generations affected by diabetes in the gestational period.(AU)

Asesoramiento genético a gestantes con defectos congénitos mayores / Genetic counseling to pregnant women with major congenital defects

Introducción: Los defectos congénitos mayores son resultado de un defecto de desarrollo intrínseco y desde su comienzo en un órgano o en una región anatómica. Su unión con otros formarán los síndromes caracterizados por un conjunto de defectos múltiples por malformación, disrupción o deformidad con afectación de varias áreas del desarrollo y con íntima relación histopatológica. Objetivo: Evaluar la efectividad del asesoramiento genético en gestantes basado en evidencias ultrasonográficas de defectos congénitos mayores. Métodos: Se realizó un estudio descriptivo transversal en el Policlínico José Martí Pérez del municipio de Santiago de Cuba. El universo estuvo conformado por la totalidad de las gestantes con evidencias ultrasonográficas de defectos congénitos mayores en los años 2016-2017. La información obtenida se procesó de forma computarizada y se aplicó el porcentaje como medida de resumen. Resultados: La aparición y detección de los defectos congénitos en las gestantes adolescentes afecta principalmente el sistema cardiaco, asociado a cromosomopatías, sistema renal, nervioso central, interrumpiéndose el mayor número de gestantes con defectos congénitos mayores. Conclusiones: Se evidenció que con el asesoramiento genético como herramienta de prevención de los defectos congénitos, se logró la terminación voluntaria del embarazo en la mayoría de los casos manteniendo la tasa de mortalidad infantil por debajo de los propósitos nacionales, mediante la detección precoz de los defectos congénitos en la Atención Primaria de Salud(AU)

Introduction: Major congenital defects result from any intrinsic development defect and from their beginning in an organ or in an anatomical region. Their union with others shall form the syndromes characterized by a set of multiple defects due to malformation, disruption or deformity with involvement of several development areas and with an intimate histopathological relationship. Objective: To evaluate the effectiveness of genetic counseling in pregnant women based on ultrasonographic evidence of major congenital defects. Methods: A cross-sectional descriptive study was carried out at José Martí Pérez Polyclinic in Santiago de Cuba Municipality. The study population was made up of all pregnant women with ultrasonographic evidence of major congenital defects in the years 2016 and 2017. The information obtained was processed in a computerized way and the percentage was applied as a summary measure. Results: The onset and detection of congenital defects in adolescent pregnant women mainly affects the cardiac system, associated to chromosomopathies, the renal system, the central nervous system, terminating the greater amount of pregnant women with major congenital defects. Conclusions: Genetic counseling was evidenced to be a tool for the prevention of congenital defects, by which voluntary termination of pregnancy can be achieved in most cases, keeping infant mortality rate below national purposes, through early detection of congenital defects in primary health care(AU)

Imperfuração congênita do óstio uretral externo associada à persistência de úraco em bezerra Nelore: relato de caso / Congenital external urethral ostium imperforation associated to urachal persistence in Nelore calf: case report

A imperfuração uretral associada ou não à persistência do úraco é rara; quando concomitante, o animal mantém o fluxo urinário por via umbilical, entretanto, após o tratamento de correção da persistência do úraco, ocorre o armazenamento de urina, que pode culminar em complicações como bexigoma, hidroureter e ruptura vesical. Uma bezerra Nelore, com 20 dias de idade, foi atendida com persistência de úraco. Prescreveu-se a aplicação local de tintura de iodo a 10% durante cinco dias, e indicou-se retorno para obliteração cirúrgica caso não houvesse resposta à terapia proposta. Após 30 dias, o animal retornou com distensão abdominal, histórico de diminuição gradual do fluxo urinário, com ausência de micção via vaginal e discreto gotejamento de urina através do umbigo. Após diversas tentativas de cateterismo uretral sem sucesso, diagnosticou-se a imperfuração do óstio uretral externo. O exame ultrassonográfico revelou distensão vesical com aproximadamente sete litros de conteúdo, hidroureter e hidronefrose bilateral. Realizou-se a cistocentese e o esvaziamento vesical guiado por ultrassom e optou-se pela abordagem cirúrgica para criação do óstio uretral e correção do úraco persistente. Por meio de cistotomia, realizou-se a sondagem retrógrada da uretra e a perfuração da membrana que recobria o óstio uretral no vestíbulo vaginal, a fim de criar um novo óstio. A sondagem foi mantida por 10 dias, com o intuito de evitar estenose do óstio e, após 30 dias de pós-operatório, o animal recebeu alta com óstio uretral patente no vestíbulo vaginal.(AU)

Urethral imperforation associated or not with urachal patency is rare, when concomitant, the animal maintains urinary flow through umbilical via, but when the treatment is performed storage of urine occurs and can culminate in complications like bexigoma, hydrourether, and vesical rupture. A nelore calf with 20 days of age, was attended with urachal patency, conservative treatment with searing substance (10% iodine) was prescribed. Return for surgical treatment was recommended if no resolution was achieved. After 30 days, the animal returned with abdominal distension and history of gradual decrease in urinary flow without urination via urethra. Urethral catheterization was attempted, unsuccessfully, and sonographic evaluation revealed vesical distention with approximately seven liters of content, hydrourether and hydronephrosis. cystocentesis and vesical deflation was performed. Surgical approach of the bladder was performed and a new ostium for the urethra in the vaginal vestibule was created by retrograde via. Urachal was removed and urethral catheterization was maintained for 10 days. Following 30 days of pos operative procedure, the animal was discharged.(AU)

Morfología de la placenta en recién nacidos con defecto congénito / Morphology of the placenta in newborns with congenital defects

El objetivo del estudio fue comparar el índice de madurez placentaria y las alteraciones histopatológicas en placentas de recién nacidos/óbitos con y sin defecto congénito (DC). Se realizó un estudio tipo casos y controles. Se incluyeron n=25 casos yn=50 controles sin DC. Los casos se clasificaron de acuerdo a la presencia de DC aislado (n=17) omúltiple (n=8). Se incluyeron recién nacidos/óbitos (RN) con una edad gestacional (EG) > 20 semanas. Se excluyeron embarazos gemelares. Se recolectó información sobre las características clínicas del producto y de la madre, antropometría del RN y su evaluación de APGAR. Se examinó la placenta, macroscópica y microscópicamente, para determinar la presencia y extensión de alteraciones histopatológicas. Se determinó el índice de madurez placentaria (IMP), calculado dividiendo el número de membranas vásculo sinciciales en 1 mm2 entre el grosor de las mismas (µ). El IMP (media ±DE) fue de 27.77±14 en el grupo de controles, 30.31±12 en el grupo de casos aislados y 16.76± 1 en el grupo de DC múltiple (p<0.05).El resto de las variables evaluadas no mostraron diferencias significativas entre grupos. En conclusión este trabajo muestra una menor madurez placentaria asociada con la presencia de DC múltiple.

The objective of the study was to compare the placental maturity index (PMI) and pathohistological alterations of placentas from newborn/stillborns (NB) with or without congenital defects (CD). A case control study was carried out. N=25 CD cases and n=50 controls without CD were included. Cases were classified according to the presence of simple (n=17) or multiple (n=8) CD. Newborn/stillborns with gestational age >20 weeks were included. Twin pregnancies were excluded. We collected information on clinical characteristics of the NB and the mother, NB anthropometry and APGAR score. The placenta was macro and microscopically examined to determine the presence and extension of histological alterations. The PMI was obtained by dividing the number of vasculo-syncytial membranes in 1 mm2, by their thickness (µ). The PMI (Mean ± SD) was 27.77 ± 14 in the control group, 30.31 ± 12 in the group diagnosed with simple CD, and 16.76 ± 1 in the group diagnosed with multiple CD (p<0.05. The rest of the assessed variables did not show significant difference between groups. In conclusion, this work shows a lower placental maturity associated with the presence of multiple CD.

Conglomerados espacio-temporales de defectos del tubo neural y niveles maternos de alfafetoproteína en Villa Clara (2011-2015) / Spatial-time clusters of neural tube defects and maternal alpha fetoprotein levels in Villa Clara province (2011-2015)

Introducción: los defectos del tubo neural se asocian a valores séricos elevados de alfafetoproteína. Objetivo: determinar la prevalencia ajustada de los defectos del tubo neural en la provincia de Villa Clara. Métodos: se realizó un estudio descriptivo retrospectivo donde se incluyeron 43 de los casos nacidos vivos o por interrupción electiva de la gestación por esta causa. Los datos sobre el tipo específico de defecto del tubo neural y los valores séricos de alfafetoproteína materna se obtuvieron del Registro Cubano de Malformaciones Congénitas y del Registro Cubano Prenatal de Malformaciones Congénitas del Centro Provincial de Genética Médica de Villa Clara. Resultados: mediante técnicas de estadística espacial se buscaron conglomerados temporales, espaciales o ambos. Se concluyó que la tasa de prevalencia ajustada fue de 5,47 por cada 1000 recién nacidos. Los niveles séricos de alfafetoproteína resultaron de utilidad para el diagnóstico de los defectos del tubo neural abiertos como la anencefalia. Conclusiones: los hallazgos de conglomerados espaciales y temporales, permitieron identificar los municipios que deben ser objeto de intervención, a través de programas destinados a la identificación y control de posibles factores de riesgo ambientales relacionados con estos defectos congénitos(AU)

Introduction: Neural tube defects are associated to high serum alpha fetoprotein values. Objective: To determine the adjusted prevalence rate of the neural tube defects in Villa Clara province. Methods: A retrospective and descriptive study was conducted in 43 of the infants born alive or from elective cessation of pregnancy because of this problem. Data on specific type of the neural tube defect and the maternal serum alpha fetoprotein values were taken from the Cuban Register of Congenital Malformations and from the Cuban Prenatal Congenital Malformations of the provincial center of medical genetics in Villa Clara province. Results: The spatial statistical techniques allowed finding time, spatial or spatial-time clusters. The adjusted prevalence rate was 5.47 per 1000 newborns. The serum alpha fetoprotein levels observed in the study were useful for the diagnosis of the open neural tube defects such as anencephaly. Conclusions: The spatial and time cluster findings allowed determining those municipalities where intervention is necessary through programs for the detection and control of possible environmental factors related to these congenital defects(AU)