El desempeño profesional del médico de familia en la prevención preconcepcional de defectos congénitos

Introducción: La prevención de enfermedades y daños en los individuos, la familia y la comunidad es una de las funciones del médico y la enfermera de la familia. Un factor a tener en cuenta en la prevalencia de los defectos congénitos resulta su inadecuada prevención. En el nivel primario o preconcepcional, esto se lograría con un desempeño profesional adecuado. Objetivo: Sistematizar los referentes teóricos-metodológicos que sustentan el desempeño profesional del médico de familia en la prevención preconcepcional de defectos congénitos. Métodos: Se realizó una revisión bibliográfica sobre el desempeño profesional del médico de familia y la prevención preconcepcional de defectos congénitos, en la Biblioteca Virtual de Salud de Infomed, en las bases de datos Scopus, SciELO, Redalyc, Latindex y Dialnet, en español e inglés, así como en cinco libros. Para la búsqueda se utilizaron los descriptores: desempeño profesional, médico de familia, defectos congénitos y prevención. Luego de aplicar criterios de inclusión/exclusión se seleccionaron 26 bibliografías por su actualidad y calidad científica. Resultados: Diferentes investigadores abordan el proceso de desempeño profesional desde diferentes áreas de las ciencias pedagógicas y la educación médica. Los autores adoptan posiciones teóricas relacionadas con el desempeño profesional del médico de familia en prevención preconcepcional de defectos congénitos, y la necesidad de la preparación permanente y continuada para el mejoramiento del desempeño profesional de estos profesionales. Conclusiones: La sistematización realizada sobre desempeño profesional del médico de familia en prevención preconcepcional de defectos congénitos permitió establecer un acercamiento a los referentes teóricos que sustentan el tema.

Introduction: The prevention of disease and harm in individuals, the family and the community is one of the roles of the family doctor and nurse. A factor to be taken into account in the prevalence of congenital defects is their inadequate prevention. At the primary or preconceptional level, this would be achieved with adequate professional performance. Objective: To systematize the theoretical-methodological referents that support the professional performance of the family doctor in the preconceptional prevention of congenital defects. Methods: A bibliographic review on the professional performance of the family doctor and the preconceptional prevention of congenital defects was carried out in the Virtual Health Library of Infomed, in the Scopus, SciELO, Redalyc, Latindex and Dialnet databases, in Spanish and English, as well as in five books. The following descriptors were used for the search: desempeño profesional [professional performance], médico de la familia [family doctor], defectos congénitos [congenital defects] and prevención [prevention]. After applying inclusion/exclusion criteria, 26 bibliographies were selected for their scientific quality and topicality. Results: Different researchers approach the professional performance process from different areas of pedagogical sciences and medical education. The authors take on theoretical positions related to the professional performance of the family doctor in preconceptional prevention of congenital defects, as well as the need for permanent and continuous preparation to improve their professional performance. Conclusions: The systematization carried out on professional performance of the family doctor in preconceptional prevention of congenital defects allowed establishing an approach to the theoretical referents that support the subject.

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.

Symmetrical parapagus diprosopus: A comparative, computed tomographic, and pathoanatomical study of a new case in domestic pig.

BACKGROUND: Parapagus diprosopus are conjoined twins characterized by craniofacial duplication and only one body, representing one of the rarest types of these twins. Their occurrence has been recorded in different species of vertebrates, including humans, but few cases have been studied in domestic pigs. CASE: A pair of conjoined twin pigs was studied using x-rays, computed tomography, and necropsy. The abnormalities found were compared with those of the rare swine cases presented in the literature as well as with other species, and the different etiopathogenetic possibilities were addressed. The degree of duplication of the head bones decreased caudally, as did that of the structures of the central nervous system. In the two oral cavities, there was a complete cleft palate. All the cervical vertebrae and thoracic vertebrae up to T3 were partially duplicated. The heart and great vessels were normal, as were the other thoracic and abdominal organs. CONCLUSIONS: The conjoined twin pigs of this study are a case of parapagus diprosopus tetraophthalmus triotus, presenting the same pattern of abnormalities of human diprosopus and that of other species. The scarcity of detailed studies on craniofacial duplication in pigs and the lack of a definitive explanation on the etiology and pathogenesis of conjoined twins shows the need for further research and the publication of more cases.

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.

Clinical and surgical aspects of hypospadia and urethral diverticulum in goats / Aspectos clínicos e cirúrgicos de hipospadia e divertículo uretal em caprinos

Hypospadia is the imperfect closure of the external urethra of the male which results from the incomplete fusion of the urogenital folds and abnormal openings of the penile urethra. The urethral diverticulum is the abnormal dilatation of the urethra, and can be of multifactorial origin and related to genetic, endocrinological and environmental factors. The objective of this article is to report on the clinical and surgical treatment of two cases of hypospadias and one case of urethral diverticulum in goats raised as pets, originated from cross breeding polled pairs. In Case 1 the hypospadias was characterized by two orifices on the ventral portion of the penis, separated by a 2 cm interruption of the urethra, and in Case 2 by an orifice on the ventral portion in the region of the urethra. In both cases there was an accumulation of urine in the middle ventral region of the foreskin, leading to distension of the skin. Both cases were successfully treated by urethrostomy and partial penectomy with fixation of the proximal urethral ostium to the skin. In Case 3, the animal was seen at ten days of age with presence of a diverticulum in the preputial region, however, the animal returned for new care only after four months due to urethral obstruction and died as a result of advanced azotemia. Surgical treatment of hypospadia, when performed before the development of azotemia associated with urinary retention, has been shown to be efficient, and post-operative care is important

Hipospadia é o fechamento imperfeito da uretra externa do macho, resultado da falha de fusão das pregas urogenitais e da formação incompleta da uretra peniana e o divertículo uretral é a dilatação anormal da uretra, podendo ser de origem multifatorial e relacionada a fatores genéticos, endocrinológicos e ambientais. O objetivo desse artigo é relatar o tratamento clínico-cirúrgico de dois casos de hipospadia e um de divertículo uretral em caprinos criados como animais de estimação, oriundos de cruzamentos de casal mocho. No Caso 1 a hipospadia era caracterizada por dois orifícios ventrais ao pênis, separados por uma interrupção de 2 cm da uretra e no Caso 2 por um orifício na face ventral na região da uretra, em ambos os casos ocorreu o acúmulo de urina na região médio ventral do prepúcio levando a distensão da pele. Os dois casos foram tratados com sucesso através da uretrostomia e penectomia parcial com fixação do óstio uretral proximal a pele. Já no Caso 3, o animal foi atendido com dez dias de vida com presença de divertículo na região prepucial, no entanto retornou para novo atendimento somente após quatro meses devido obstrução uretral, causando quadro grave de azotemia e a morte. O tratamento cirúrgico da hipospadia, quando realizada antes do desenvolvimento de azotemia associado a retenção urinária, mostrou-se eficiente, sendo importante atenção os cuidados pós-operatórios

Incidência de malformações congênitas em cães neonatos provenientes de canis de Belo Horizonte e região metropolitana ­ Minas Gerais, Brasil / Incidence of congenital malformations in neonatal dogs from kennels from Belo Horizonte and metropolitan region ­ Minas Gerais, Brazil

As malformações ou defeitos congênitos são alterações estruturais ou funcionais de órgãos e estruturas presentes ao nascimento. Essas alterações têm um grande impacto sobre a mortalidade e viabilidade neonatal e nem sempre são investigadas a fundo. O presente estudo descreve a incidência de malformações congênitas em cães neonatos provenientes de canis da cidade de Belo Horizonte e região metropolitana ­ Minas Gerais, Brasil. No total, foram avaliadas 170 ninhadas com 745 neonatos e as malformações foram presentes em 21% (36/170) delas. Dos 745 neonatos, 6,4% (48/745) possuíam algum tipo de defeito congênito. Foram descritos 13 tipos de malformações, registradas em 50% (6/12) das 12 raças avaliadas. Das matrizes, 6% (11/170) apresentavam infecção por hemoparasitas, 2% (3/170) possuíam dermatopatias não diagnosticadas e 3% (5/170) estavam com suspeita de hemoparasitoses, mas não foram testadas. A exposição materna a agentes teratogênicos aconteceu em 3,5% (6/170) dos casos. Todos os casos de malformações foram diagnosticados em cães de raças puras, fortalecendo a hipótese de causas genéticas.(AU)

Congenital malformations or defects are functional or structural alterations of organs and structures present at birth. These abnormalities have a major impact on neonatal mortality and viability and aren't always thoroughly investigated. The present study described the incidence of congenital malformations in canine neonates originated from kennels from Belo Horizonte and metropolitan region ­ Minas Gerais, Brazil. In total, 170 litters with 745 neonates were evaluated and malformations were observed in 21% (36/170) of them. From 745 evaluated neonates, 6% (48/745) had one or more congenital defects. 13 types of malformations were described, registered in 50¨% (6/12) of the 12 evaluated breeds. 6% (11/170) of the bitches were infected by hemoparasites, 2% (3/170) had undiagnosed skin diseases and 3% (5/170) had suspicion of hemoparasitosis but weren't tested. Maternal exposure to teratogenic agents happened in 3,5% (6/170) of the cases. All malformation cases happened in pure dog breeds, strengthening the hypothesis of genetic origins.(AU)

Diagnóstico ultrassonográfico intrauterino de cardiomegalia fetal em felino / Intrauterine ultrasound diagnosis of fetal cardiomegaly in a feline

A ultrassonografia é um dos principais métodos de diagnóstico gestacional, no qual se realiza: biometria, monitoramento de batimentos e organogênese, detecção de anormalidades e avaliação da circulação sanguínea materno-fetal. Nesse quesito, o diagnóstico ultrassonográfico intrauterino de anormalidades fetais vem adquirindo espaço com o desenvolvimento de equipamentos mais avançados, tendo potencial para se tornar uma ferramenta de triagem para tal. Baseado na escassez observada nesse aspecto, visa-se relatar o diagnóstico ultrassonográfico intrauterino de uma alteração fetal em uma felina gestante. Foi atendida uma felina da raça persa, 3 anos, com histórico de monta natural há 40 dias. Na ultrassonografia visibilizou-se quatro fetos vivos com aproximadamente 38 dias. Uma segunda avaliação ultrassonográfica ocorreu após 12 dias, notando-se um feto com cardiomegalia, oscilação da frequência cardíaca e sofrimento fetal, enquanto os demais fetos apresentavam-se dentro da normalidade. O terceiro exame foi feito após quatro dias, visibilizando ausência de batimento cardíaco e presença de líquido em espaço pleural no feto em questão, confirmando o óbito. O parto natural ocorreu após uma semana, com nascimento de três filhotes vivos e um natimorto. Ao exame necroscópico do natimorto, confirmou-se cardiomegalia generalizada. Conclui-se que a ultrassonografia é um método padrão-ouro para diagnóstico de anormalidades fetais, permitindo planejar o parto e interceder de maneira precoce conforme a situação. Assim, esse trabalho enriquece a literatura com maiores informações relacionadas a malformações fetais observadas antes do parto, contribuindo assim com as condutas obstétricas em pequenos animais.(AU)

Ultrasonography is one of the main methods of gestational diagnosis, in which it performs: biometry, monitoring of beats and organogenesis, detection of abnormalities and evaluation of maternal-fetal blood circulation. In this regard, intrauterine sonographic diagnosis of fetal abnormalities has been gaining space with the development of more advanced equipment, and has the potential to become a screening tool for this purpose. Based on the scarcity observed in this aspect, this study aimsto report the intrauterine ultrasound diagnosis of a fetal abnormality in a pregnant feline. The patient was a 3-year-old Persian female with a history of natural mounting for 40 days. At ultrasonography, four live fetuses were visualized at approximately38 days of age. Asecond ultrasonographic evaluation was performed after 12 days, and one fetus with cardiomegaly, heart rate oscillation and fetal distress was observed, while the other fetuses were within normal limits. The third scan was performed after four days, showing absence of heartbeat and presence of fluid in the pleural space in the fetus in question, confirming the death. Natural delivery occurred after one week, with the birth of three live pups and one stillborn. At necroscopic examination of the stillborn, generalized cardiomegaly was confirmed. We conclude that ultrasonography is a gold standard method for diagnosing fetal abnormalities, allowing birth planning and early intervention according to the situation. Thus, this study enriches theliterature with more information related to fetal malformations observed before delivery, thus contributing to obstetric management in small animals.(AU)

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)

Nutritional chondrodysplasia in cattle in Brazil.

In this work, we investigated cases of birth of calves with congenital defects in a farm in Southern Brazil. Only calves born from heifers were affected, and the disease occurred in both crossbred and purebred calves. Three necropsies were performed, tissues were collected for histopathology, and samples of liver of calves, blood serum, and food provided for cows and heifers were collected to quantify the levels of the minerals: manganese, copper, and zinc. The calves were born weak, with disproportionate dwarfism, limb deformities, and enlarged joints. Heads were shortened and domed. Long bones had a shortened diaphysis and a normal-sized epiphysis, when compared to the control. In one of the cases, there were white-yellowish lines on the metaphyseal surface of the epiphyseal plate. Histopathology of growth plates revealed premature closure, disarrangement of chondrocyte columns, and collapse of primary spongiosa. These findings supported a diagnosis of chondrodysplasia. Liver manganese levels were under the reference values in the three calves. Food analysis revealed insufficient levels of manganese in the diet of heifers, especially in sorghum silage, which was provided as the main source of food for the category in some periods. Approximately 6 months after the diet was changed, the problem ceased and only normal calves continued to be born. Our findings allowed to conclude the diagnosis of chondrodysplasia of nutritional origin and reinforce the thesis that manganese is the mineral deficient in these cases.

Congenital malformations in brachycephalic dogs: A retrospective study.

The popularity of brachycephalic dogs has increased in recent years due to their docile temperament and peculiar features. The historical inbreeding and consequent lack of genetic diversity involved in the development of these breeds led to an increase in the manifestation of deleterious genes that may lead to malformations. In addition, there are serious health issues intrinsic to the conformation, mainly attributed to these extreme characteristics. Therefore, this retrospective study aimed to observe the frequency of malformations in brachycephalic dogs compared to the pure and mixed breeds (MB). The medical records of pregnant bitches admitted at the Service of Obstetrics and Animal Reproduction (SORA) from January 2017 to December 2021 were retrieved from the hospital's computer system and analyzed one by one. Seven hundred sixty-eight neonates born from 168 litters were included in this study. Of these litters, 72.6% (122/168) were brachycephalic. Malformations were found in 52 puppies, with an incidence of 6.77% (52/768). Of the 32 litters that produced malformed puppies, 28 were brachycephalic (87.5%). In total, 23 types of malformations were registered, the most common being cleft palate (1.30%) and anasarca (1.17%). Ten of the puppies (10/52; 19.23%) presented two or more associated malformations. Bitches above 7 years were more prone to present malformed puppies in their litters. Brachycephalic breeds were 3.03 times more likely to present malformed neonates when compared to other breeds; the odds ratio increased to 5.07 when modern brachycephalic was compared to ancestral brachycephalic. Regarding the mode of delivery, elective cesarean sections accounted for 66.6% of births while 19.64% were eutocic vaginal deliveries, and 13.69% were dystocic. The presence of malformed puppies in a litter causes suffering for the owner, the bitch and for the puppy itself, therefore, the veterinarian plays a key role in this scenario. Knowledge about congenital abnormalities, their causes, diagnosis, and approach is essential to reduce the incidence of malformations and improve the quality of life of these animals.

Bovinos xifópagos na linha de abate na Amazônia Oriental, Brasil / Xifópagus cattle in a slaughter line in Eastern Amazon, Brazil

Este estudo reporta um caso de gêmeos xifópagos (thoracopagus) identificados em um frigorífico no Sudeste paraense. Durante as linhas de inspeção do abate, identificou-se um dos animais com gestação gemelar avançada, sendo que os fetos encontravam-se unidos pela cavidade torácica. Aos fetos com esse tipo de duplicidade dá-se o nome de gêmeos siameses ou xifópagos. Tal condição é uma alteração congênita rara de etiologia muitas vezes considerada indefinida, podendo ser resultado de defeitos genéticos, de agentes infecciosos ou de fatores ambientais. Os fetos apresentaram morfologia homogênea e simétrica, compondo dois indivíduos equivalentes, ambos machos. O relato de anomalias, como a identificada nos fetos, permite monitorar a ocorrência de casos semelhantes, além de identificar e relatar possíveis defeitos hereditários nos bovinos.

This study reports a case of xiphopagus twins (thoracopagus) identified in a slaughterhouse in southeast Pará. During the slaughter inspection line, one of the animals was identified with advanced twin pregnancy and the fetuses were united by the thoracic cavity. Fetuses with this type of duplicity are called Siamese or Xiphopagus. This condition is a rare congenital alteration often considered of undefined etiology, and may be the result of and genetic defects, infectious agents, or environmental factors. The fetuses presented homogeneous and symmetrical morphology and were two equivalent individuals, both males. The report of anomalies, such as the one identified in the fetuses, allows monitoring the occurrence of similar cases, in addition to identifying and reporting possible hereditary defects in cattle.

A joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs.

BACKGROUND: Umbilical Hernia (UH) is characterized by the passage of part of the intestine through the umbilical canal forming the herniary sac. There are several potential causes that can lead to the umbilical hernia such as bacterial infections, management conditions and genetic factors. Since the genetic components involved with UH are poorly understood, this study aimed to identify polymorphisms and genes associated with the manifestation of umbilical hernia in pigs using exome and transcriptome sequencing in a case and control design. RESULTS: In the exome sequencing, 119 variants located in 58 genes were identified differing between normal and UH-affected pigs, and in the umbilical ring transcriptome, 46 variants were identified, located in 27 genes. Comparing the two methodologies, we obtained 34 concordant variants between the exome and transcriptome analyses, which were located in 17 genes, distributed in 64 biological processes (BP). Among the BP involved with UH it is possible to highlight cell adhesion, cell junction regulation, embryonic morphogenesis, ion transport, muscle contraction, within others. CONCLUSIONS: We have generated the first exome sequencing related to normal and umbilical hernia-affected pigs, which allowed us to identify several variants possibly involved with this disorder. Many of those variants present in the DNA were confirmed with the RNA-Seq results. The combination of both exome and transcriptome sequencing approaches allowed us to better understand the complex molecular mechanisms underlying UH in pigs and possibly in other mammals, including humans. Some variants found in genes and other regulatory regions are highlighted as strong candidates to the development of UH in pigs and should be further investigated.

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)

Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.

Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the presence of additional factors. The 22q11.2 deleted region contains nuclear encoded mitochondrial genes, and since mitochondrial function is critical during development, we hypothesized that changes in the mitochondrial DNA (mtDNA) could be involved in the intrafamilial variability of CHD and PA in cases of maternally inherited 22q11.2DS. To investigate this, we studied the transmission of heteroplasmic mtDNA alleles in seventeen phenotypically concordant and discordant mother-offspring 22q11.2DS pairs. We sequenced their mtDNA and identified 26 heteroplasmic variants at >1% frequency, representing 18 transmissions. The median allele frequency change between a mother and her child was twice as much, with a wider distribution range, in PA discordant pairs, p-value = 0.039 (permutation test, 11 concordant vs. 7 discordant variants), but not in CHD discordant pairs, p-value = 0.441 (9 vs. 9). Only the variant m.9507T>C was considered to be pathogenic, but it was unrelated to the structural phenotypes. Our study is novel, yet our results are not consistent with mtDNA variation contributing to PA or CHD in 22q11.2DS. Larger cohorts and additional factors should be considered moving forward.

Genes and SNPs Involved with Scrotal and Umbilical Hernia in Pigs.

Hernia is one of the most common defects in pigs. The most prevalent are the scrotal (SH), inguinal (IH) and umbilical (UH) hernias. We compared the inguinal ring transcriptome of normal and SH-affected pigs with the umbilical ring transcriptome of normal and UH-affected pigs to discover genes and pathways involved with the development of both types of hernia. A total of 13,307 transcripts was expressed in the inguinal and 13,302 in the umbilical ring tissues with 94.91% of them present in both tissues. From those, 35 genes were differentially expressed in both groups, participating in 108 biological processes. A total of 67 polymorphisms was identified in the inguinal ring and 76 in the umbilical ring tissue, of which 11 and 14 were novel, respectively. A single nucleotide polymorphism (SNP) with deleterious function was identified in the integrin α M (ITGAM) gene. The microtubule associated protein 1 light chain 3 γ (MAP1LC3C), vitrin (VIT), aggrecan (ACAN), alkaline ceramidase 2 (ACER2), potassium calcium-activated channel subfamily M α 1 (KCNMA1) and synaptopodin 2 (SYNPO2) genes are highlighted as candidates to trigger both types of hernia. We generated the first comparative study of the pig umbilical and inguinal ring transcriptomes, contributing to the understanding of the genetic mechanism involved with these two types of hernia in pigs and probably in other mammals.

Atresia ani (imperforated anus) in calves: clinical, surgical and pathological aspects

Background: Anal atresia is a congenital malformation, which often affects calves, and is related to the imperforation of the membrane that separates the endoderm of the posterior intestine from the ectodermal anal membrane. It is commonly associated with other congenital malformations and skeletal anomalies. The clinical signs generally appear in the first days of the animal's life, due to a retention of feces. The diagnosis is clinical and is based on observation, anamnesis and a physical examination of the animal. The only viable treatment is surgical. This paper aims to report 6 cases of anal atresia in bovine calves, 4 males and 2 females that were successfully treated surgically. Cases: This work reports 6 cases of anal atresia in 4 male calves and 2 female calves. Three presented total atresia (type II), one partial (type I) and in both female calves, anal atresia and rectovaginal fistula (type IV) were observed. The animals were all of undefined race. Five of the cases were from northern Tocantins, 4 males and 1 female (anal atresia with rectovaginal fistula), and 1 female (anal atresia with rectovaginal fistula) was from Valença, RJ. All animals were born active, by eutocic/natural birth, and assumed a quadrupedal position followed by the first feeding as normal. They were aged between 2 days and 6 months, and had a clinical history of abdominal distention and difficulty or inability defecating, and the females both also had a rectovaginal fistula, all cases compatible with anal atresia. Based on the patient's history and clinical examination, surgical treatment for anal reconstruction was decided upon. Postoperative treatment consisted of enrofloxacin [2.5 mg/kg - intramuscularly (IM), once daily (SID), for 5 days] and fluxinin meglumine [1.1 mg/kg - IM, SID, for 3 days] ; as well as a healing ointment which was applied to the area of the surgical wound, every 12 h, for 7 days. There were no trans-surgical complications. The animals showed progressive recovery after anal reconstruction and the stitches were removed in all cases on the 10th postoperative day, with no postoperative complications and no recurrence of any clinical signs from that moment on. Discussion: The study of congenital and hereditary changes enables the identification of their origins, can help prevent new cases and, some of them, are open to economically viable treatment and/or correction that can improve the well-being of the animal and prevent economic losses due to death or animal sacrifice, as reported in the present study. Anal atresia is the most common congenital defect of the lower gastrointestinal tract in calves, being an isolated abnormality, or associated with other malformations, especially of the distal spinal column such as the absence of a tail (perosomus acaudatus), as one of the animals in this study. The clinical signs and physical examination are sufficient to establish the diagnosis, as demonstrated in this report, which is usually made in newborn animals, due to the lack or difficulty in defecation associated with no anal orifice and/or swelling in the perineal region. The treatment of choice for anal atresia is surgical, in order to construct an anal neo-orifice and thus avoid endotoxemic shock as well as providing relief and well-being for the animals. As observed in this study, when anal atresia is diagnosed early, and surgical treatment is properly instituted, the prognosis is favorable. The surgery is considered of low complexity, quick and it can be carried out in the field. Thus, from a commercial point of view, considering the costs of the procedures and the value of the calf at the end of weaning, such treatments are beneficial to the owners. In addition, the surgical treatment is essential for animal health and welfare in cases of anal atresia.

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)

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.