Ectopic thymic tissue in subglottis of children: evaluation and management

Abstract Objectives: Ectopic thymic tissue in the subglottis is an extremely rare disease that causes airway obstruction. Few cases reported were accurately diagnosed before surgery. Methods: A case of a 2-year-old boy with airway obstruction caused by a left subglottic mass was reported. The presentation of radiological imaging, direct laryngoscopy and bronchoscopy, pathology, and surgical management were reviewed. An extensive search in PubMed, EMBASE, Web of Science, Google Scholar, and EBSCO of English literature was performed without a limit of time. Results: Besides our case, only six cases were reported since 1987. The definitive diagnosis on these patients were made with the findings of pathology, of which, five were ectopic thymus and two were ectopic thymic cysts. Our case was the only one with a correct suspicion preoper-atively. Four cases underwent open surgical resection, and two cases underwent microlaryngeal surgery, while one deceased after emergency tracheostomy. No recurrences were found by six patients during the follow-up after successful treatments. Conclusion: Ectopic thymus is a rare condition, infrequently considered in the differential diagnosis of subglottic masses. Modified laryngofissure may be an effective approach to removing the subglottic ectopic thymus and reconstructing the intact subglottic mucosa.

Síndrome del incisivo central maxilar único: reporte de caso

El síndrome del incisivo central maxilar único es una rara alteración en el desarrollo y formación de órganos ubicados principalmente en la línea media; el cual ocurre de manera temprana entre los días 35 al 38 de vida intrauterina. Su etiología es desconocida, aunque se ha asociado a deleciones de los cromosomas 7 (7q.36.1) y 8, y a mutaciones en el gen Sonic Hedgehog. Presenta una prevalencia de 1/50.000 nacidos vivos y aunque es una anomalía poco frecuente del desarrollo craneofacial, su diagnóstico y tratamiento temprano son importantes para los odontólogos generales o especialistas ya que puede ser un signo de otras anomalías congénitas o del desarrollo graves. Por lo tanto, el objetivo de este caso es reportar la fase inicial de tratamiento en un niño con el síndrome de incisivo central maxilar único quien no había sido diagnosticado anteriormente con este síndrome. Caso Clínico: Paciente masculino de 10 años de edad, procedente de Jamundí, Valle del Cauca- Colombia. Reporta ausencia de órgano dentario superior. En el examen intraoral se observa un incisivo central único sobre la línea media del maxilar, ausencia de frenillo labial y papila incisiva, paladar oval y retrognatismo mandibular. Fue tratado en una primera fase con ortopedia funcional maxilar para mejorar la clase II y está a la espera de iniciar la segunda fase de tratamiento con ortodoncia. Conclusiones: El síndrome de incisivo central maxilar único es un síndrome poco frecuente el cual conlleva múltiples afecciones que interfieren en el normal desarrollo y crecimiento de estructuras anatómicas.

A síndrome do incisivo central superior único é uma alteração rara no desenvolvimento e formação de órgãos localizados principalmente na linha média; que ocorre precocemente entre os dias 35 a 38 de vida intrauterina. Sua etiologia é desconhecida, embora tenha sido associada a deleções dos cromossomos 7 (7q.36.1) e 8, e mutações no gene Sonic Hedgehog. Tem uma prevalência de 1/50.000 nascidos vivos e, embora seja uma anomalia rara do desenvolvimento craniofacial, seu diagnóstico e tratamento precoces são importantes para dentistas gerais ou especialistas, pois pode ser sinal de outras anomalias congênitas ou de desenvolvimento graves. Portanto, o objetivo deste caso é relatar a fase inicial do tratamento em uma criança com síndrome do incisivo central superior único que não havia sido previamente diagnosticada com essa síndrome. Caso clínico: Paciente do sexo masculino, 10 anos, procedente de Jamundí, Valle del Cauca- Colômbia. Relata ausência de órgão dentário superior. O exame intraoral mostra um único incisivo central na linha média maxilar, ausência de frênulo labial e papila incisiva, palato oval e retrognatismo mandibular. Foi tratado numa primeira fase com ortopedia funcional maxilar para melhorar a classe II e aguarda para iniciar a segunda fase do tratamento ortodôntico. Conclusões: A síndrome do incisivo central superior único é uma síndrome rara que envolve múltiplas condições que interferem no desenvolvimento e crescimento normal das estruturas anatômicas.

Solitary maxillary central incisor syndrome is a rare alteration in the development and formation of organs located mainly in the midline; which occurs early between days 35 to 38 of intrauterine life. Its etiology is unknown, although it has been associated with deletions of chromosomes 7 (7q.36.1) and 8, and mutations in the Sonic Hedgehog gene. It has a prevalence of 1/50,000 live births and although it is a rare anomaly of craniofacial development, its early diagnosis and treatment are important for general dentists or specialists since it can be a sign of other serious congenital or developmental anomalies. Therefore, the objective of this case is to report the initial phase of treatment in a child with solitary maxillary central incisor syndrome who had not been previously diagnosed with this syndrome. Clinical case: Male patient, 10 years old, from Jamundí, Valle del Cauca- Colombia. Reports absence of upper dental organ. Intraoral examination shows a solitary central incisor on the maxillary midline, absence of labial frenulum and incisive papilla, oval palate and mandibular retrognathism. He was treated in a first phase with maxillary functional orthopedics to improve class II and is waiting to start the second phase of orthodontic treatment. Conclusions: Solitary maxillary central incisor syndrome is a rare syndrome which involves multiple conditions that interfere with the normal development and growth of anatomical structures.

Diagnóstico ecográfico prenatal en el Centro Municipal de Genética Médica de Marianao, La Habana / Prenatal Ultrasound Diagnosis at the Genetics Center of Marianao Municipality, Havana

Introducción: La ecografía prenatal en el Programa de Prevención de Enfermedades Genéticas permite la detección precoz de malformaciones congénitas y mejora la calidad de vida de la madre y su familia. Objetivo: Conocer la frecuencia de malformaciones congénitas diagnosticadas en el Centro de Genética de Marianao y compararla con las estadísticas nacionales e internacionales. Métodos: Estudio retrospectivo, descriptivo y observacional. Se cuantificaron 203 malformaciones diagnosticadas entre 2007 y 2017 en el Centro de Genética de Marianao. Se consideraron como variables la edad materna, la edad gestacional del diagnóstico, la frecuencia por años y los tipos de malformaciones por sistemas. Resultados: En 13 307 nacimientos se diagnosticaron 203 fetos malformados (1,52 por ciento) a una edad gestacional media de 20,15 semanas. Las malformaciones más frecuentes fueron neurológicas (27,1 por ciento) y cardiovasculares (16,2 por ciento). En las madres adolescentes predominaron las cardiovasculares (27,3 por ciento) y digestivas (16,2 por ciento en las madres añosas, las cromosómicas (57,1 por ciento). Antes de la semana 17 se diagnosticaron malformaciones digestivas (41,7 por ciento) y neurológicas (40 por ciento); entre las 18 y 21 semanas, las esqueléticas (41,2 por ciento); entre las 22 y 26 semanas, cardiovasculares (66,7 por ciento) y cromosómicas (52,4 por ciento) y, después de la semana 27, las renales (9 por ciento. Conclusión: Predominaron las malformaciones neurológicas y cardiovasculares. La edad materna media fue superior en las malformaciones cromosómicas y menor en las digestivas y cardiovasculares. En el primer marcador del programa se diagnosticó la mayoría de las malformaciones digestivas y neurológicas; y en el segundo marcador, las cardiovasculares, cromosómicas y esqueléticas(AU)

Introduction: Prenatal ultrasound in the Genetic Disease Prevention Program allows early detection of congenital malformations and improves the quality of life of the mother and her family. Objective: To know the frequency of congenital malformations diagnosed at the Genetics Center of Marianao Municipality, Havana, Cuba, and to compare it with national and international statistics. Methods: Retrospective, descriptive and observational study. A total of 203 malformations diagnosed between 2007 and 2017 at the Genetics Center of Marianao were quantified. Maternal age, gestational age at diagnosis, frequency by years and types of malformations by systems were considered as variables. Results: In 13,307 births, 203 malformed fetuses were diagnosed (1.52 percent), at a mean gestational age of 20.15 weeks. The most frequent malformations were neurological (27.1 percent) and cardiovascular (16.2 percent). Cardiovascular (27.3 percent) and digestive (16.2 percent) malformations predominated in adolescent mothers, while chromosomal malformations predominated in older mothers (57.1 percent). Before the seventeenth week, digestive (41.7 percent) and neurological (40 percent) alformations were diagnosed; between the eighteenth and twenty-first weeks, skeletal (41.2 percent) malformations were diagnosed; between the twenty-second and twenty-sixth weeks, cardiovascular (66.7 percent) and chromosomal (52.4 percent) malformations were diagnosed; and after the twenty-seventh week, renal (9 percent) malformations were diagnosed. Conclusion: Neurological and cardiovascular malformations prevailed. The mean maternal age was higher in chromosomal malformations, and lower in digestive and cardiovascular malformations. Most of the digestive and neurological malformations were diagnosed in the first marker of the Program, while cardiovascular, chromosomal and skeletal malformations were diagnosed in the second marker(AU)

Cuidado espiritual à mãe de bebê com malformação à luz da Teoria Watson: compreensão de enfermeiras / Cuidado espiritual para la madre de un bebé con malformación a la luz de la Teoría de / Spiritual care for mothers of babies with malformation in the light of Watson's theory: the nurses' understanding

Resumo Objetivos investigar a compreensão de enfermeiras assistenciais sobre espiritualidade; analisar o cuidado espiritual prestado pelas enfermeiras à mãe de bebê com malformação, à luz da Teoria de Jean Watson. Método abordagem qualitativa, implementando a entrevista semiestruturada com 11 enfermeiras de uma maternidade de referência no município de João Pessoa (PB). Os dados foram analisados a partir da técnica da análise de conteúdo proposta por Bardin. Resultados emergiram duas categorias: compreensão de enfermeiras sobre espiritualidade e cuidado espiritual; cuidado espiritual prestado pelas enfermeiras às mães de bebês com malformação congênita, na perspectiva da Teoria de Jean Watson. As profissionais utilizam, empiricamente, elementos do Processo Clinical Caritas-Veritas. Conclusão e implicações para a prática as enfermeiras compreendem espiritualidade como algo que norteia e dá sentido à vida, podendo ou não estar relacionada a uma prática religiosa. Reconhecem que o cuidado espiritual auxilia as mães no enfrentamento de problemas.

Resumen Objetivos Investigar la comprensión de enfermeros asistenciales sobre espiritualidad; analizar el cuidado espiritual que prestan las enfermeras a la madre de un bebé con malformación, a la luz de la Teoría de Jean Watson. Método abordaje cualitativo implementando una entrevista semiestructurada con once enfermeras de una maternidad de referencia en la ciudad de João Pessoa (Estado de Paraíba, noreste de Brasil). Los datos se analizaron mediante la técnica de análisis de contenido propuesta por Bardin. Resultados asomaron dos categorías: comprensión del enfermero sobre espiritualidad y cuidado espiritual y el cuidado espiritual ofrecido por los enfermeros a las madres de bebés malformados en la perspectiva de la teoría de Jean Watson. Los profesionales utilizan empíricamente elementos del Proceso Clínico Caritas-Veritas. Conclusión e implicaciones para la práctica Los enfermeros comprenden espiritualidad como algo que orienta y ofrece sentido a la vida, pudiendo o no estar ligada a una práctica religiosa. Reconocen que el cuidado espiritual ofrecido a las madres de bebés malformados las auxilia en el enfrentamiento del problema.

Abstract Objectives to investigate the understanding of nursing assistants on spirituality; to analyze the spiritual care provided by nurses to the mother of a baby with a malformation in the light of Watson's Theory. Method this was a qualitative approach implementing semi-structured interviews with eleven nurses from a reference maternity hospital in the city of João Pessoa (Paraíba State, northeastern Brazil). Data were analyzed using the content analysis technique proposed by Bardin. Results two categories emerged: the nurses' understanding of spirituality and spiritual care and the spiritual care provided by the nurses to the mothers of malformed babies from the perspective of Watson's theory. The professionals empirically use elements of the Caritas-Veritas Clinical Process. Conclusion and implications for the practice the nurses understand spirituality as something that guides and brings meaning to life, whether or not it is linked to religious practice. They recognize that the spiritual care provided to the mothers of malformed babies helps them cope with the problem.

Diagnóstico de divertículo traqueal por broncoscopia / Diagnosis of tracheal diverticulum by bronchoscopy

Introducción: Las anomalías congénitas de la tráquea son un grupo heterogéneo de alteraciones que se producen durante el desarrollo y crecimiento del sistema respiratorio y guarda relación con el período embrionario. En esta etapa del desarrollo, pueden presentarse malformaciones que son incompatibles con la vida. Objetivo: Presentar un caso de divertículo traqueal. Presentación del caso: Se presenta el caso de una paciente oncológica diagnosticada de un divertículo traqueal, también conocido como traqueocele. El diagnóstico se obtuvo de manera incidental, cuando a la paciente, en estudios de control por cáncer de mama, se le indicó una radiografía de tórax posteroanterior y se evidenció una lesión nodular en el vértice del pulmón derecho. Se le realizó broncoscopia y se diagnosticó divertículo traqueal. Conclusiones: El divertículo traqueal es una entidad infrecuente que puede cursar de manera asintomática. Su diagnóstico se puede realizar por tomografía axial computarizada o broncoscopia(AU)

Introduction: Congenital anomalies of the trachea are a heterogeneous group of alterations that occur during the development and growth of the respiratory system and they are related to the embryonic period. At this stage of development, malformations, which are incompatible with life, may occur. Objective: To report a case of tracheal diverticulum. Case report: The case of an oncological patient diagnosed with a tracheal diverticulum, also known as a tracheocele, is reported here. The diagnosis was made incidentally. When the patient, in control studies for breast cancer, received a postero-anterior chest X-ray and a nodular lesion was evidenced in the apex of her right lung. She underwent a bronchoscopy and a tracheal diverticulum was diagnosed. Conclusions: Tracheal diverticulum is a rare entity that can occur asymptomatically. Its diagnosis can be made by computerized axial tomography or bronchoscopy(AU)

Diagnosing Septate Uterus Using Three-Dimensional Ultrasound Using Three Different Classifications: An Interobserver and Intraobserver Agreement Study / Diagnóstico de útero septado com ecografia tridimensional usando três classificações diferentes: Um estudo de concordância interobservador e intraobservador

Abstract Objective Currently, there are up to three different classifications for diagnosing septate uterus. The interobserver agreement among them has been poorly assessed. To assess the interobserver agreement of nonexpert sonographers for classifying septate uterus using the European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy (ESHRE/ESGE), American Society for Reproductive Medicine (ASRM), and Congenital Uterine Malformations by Experts (CUME) classifications. Methods A total of 50 three-dimensional (3D) volumes of a nonconsecutive series of women with suspected uterine malformation were used. Two nonexpert examiners evaluated a single 3D volume of the uterus of each woman, blinded to each other. The following measurements were performed: indentation depth, indentation angle, uterine fundal wall thickness, external fundal indentation, and indentation-to-wall-thickness (I:WT) ratio. Each observer had to assign a diagnosis in each case, according to the three classification systems (ESHRE/ESGE, ASRM, and CUME). The interobserver agreement regarding the ESHRE/ESGE, ASRM, and CUME classifications was assessed using the Cohen weighted kappa index (k). Agreement regarding the three classifications (ASRM versus ESHRE/ESGE, ASRM versus CUME, ESHRE/ESGE versus CUME) was also assessed. Results The interobserver agreement between the 2 nonexpert examiners was good for the ESHRE/ESGE (k = 0.74; 95% confidence interval [CI]: 0.55-0.92) and very good for the ASRM and CUME classification systems (k = 0.95; 95%CI: 0.86-1.00; and k = 0.91; 95%CI: 0.79-1.00, respectively). Agreement between the ESHRE/ESGE and ASRM classifications was moderate for both examiners. Agreement between the ESHRE/ESGE and CUME classifications was moderate for examiner 1 and good for examiner 2. Agreement between the ASRM and CUME classifications was good for both examiners. Conclusion The three classifications have good (ESHRE/ESGE) or very good (ASRM and CUME) interobserver agreement. Agreement between the ASRM and CUME classifications was higher than that for the ESHRE/ESGE and ASRM and ESHRE/ESGE and CUME classifications.

Resumo Objetivo Atualmente, existem até três classificações diferentes para o diagnóstico de útero septado. A concordância interobservador entre eles tem sido pouco avaliada. Avaliar a concordância interobservador de ecografistas não especialistas para classificar úteros septados usando as classificações European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy (ESHRE/ESGE, na sigla em inglês), American Society for Reproductive Medicine (ASRM, na sigla em inglês) e Congenital Uterine Malformations by Experts (CUME, na sigla em inglês). Métodos Foram utilizados50volumes tridimensionais (3D)deuma série não consecutiva de mulheres com suspeita de malformação uterina. Dois examinadores não especialistas avaliaram um único volume 3D do útero de cada mulher, mutuamente cegos. As seguintes medidas foram aferidas: profundidade de indentação, ângulo de indentação, espessura da parede do fundo uterino, indentação externa do fundo e relação entre indentação e a espessura da parede (I:WT, na sigla em inglês). Cada observador teve que atribuir um diagnóstico em cada caso, de acordo com os três sistemas de classificação (ESHRE/ESGE, ASRM e CUME). A concordância interobservador em relação às classificações ESHRE/ESGE, ASRM e CUME foi avaliada usando o índice kappa ponderado de Cohen (k). A concordância em relação às três classificações (ASRM versus ESHRE/ESGE, ASRM versus CUME e ESHRE/ ESGE versus CUME) também foi avaliada. Resultados A concordância interobservador entre os 2 examinadores não especialistas foi boa para a classificação ESHRE/ESGE (k = 0,74, intervalo de confiança [IC] 95%: 0,55-0,92) e muito boa para os sistemas de classificação ASRM e CUME (k = 0,95; IC 95%: 0,86-1,00; e k = 0,91; IC95%: 0,79-1,00, respectivamente). A concordância entre as classificações ESHRE/ESGE e ASRM foi moderada para ambos os examinadores. A concordância entre as classificações ESHRE/ESGE e CUME foi moderada para o examinador 1 e boa para o examinador 2. A concordância entre as classificações ASRM e CUME foi boa para ambos os examinadores. Conclusão As três classificações apresentam concordância interobservador boa (ESHRE/ESGE) ou muito boa (ASRM e CUME). A concordância entre as classificações ASRM e CUME foi maior do que entre as classificações ESHRE/ESGE e ASRM e ESHRE/ESGE e CUME.

Páncreas ectópico, una posible y rara causa de hipoglucemia postprandial / Ectopic pancreas, a possible rare cause of postprandial hypoglycemia

Introducción: El páncreas ectópico es la segunda anomalía congénita pancreática más frecuente después del páncreas divisum. Fue descrito por primera vez en 1729 por Schultz y se define como la presencia de tejido pancreático que carece de comunicación anatómica o vascular con el cuerpo principal del páncreas. La localización más frecuente es en el estómago (25 - 38 por ciento), seguido de duodeno, yeyuno e íleon. El 40 por ciento de los casos son sintomáticos y es más frecuente su presentación en varones en torno a la 5ª y 6ª década de la vida. Objetivo: Presentar un caso de páncreas ectópico diagnosticado a través de un estudio histológico tras realizada la cirugía. Presentación de caso: Presentamos el caso de una paciente compatible con hipoglucemia y cuyo estudio definitivo mostró la presencia de tejido pancreático ectópico en estómago, con resolución completa de los síntomas tras tratamiento quirúrgico. La anatomía patológica mostró una lesión nodular tumoral benigna (2,5 cm), constituida por tejido pancreático heterotópico, con presencia de páncreas exocrino con acinos. Páncreas endocrino con presencia de islotes de Langerhans y componente epitelial con ductos. Afectación desde la submucosa hasta la subserosa, con una pared muscular propia con hiperplasia muscular en relación a la heterotopía pancreática. La mucosa gástrica mostraba inflamación crónica leve con escasos folículos linfoides. Conclusiones: La presencia de páncreas ectópico es una entidad poco frecuente, pero a tener en cuenta en pacientes con clínica de hipoglucemia, una vez descartadas otras causas. No existe consenso con respecto a indicaciones en el manejo de lesiones pequeñas y asintomáticas, por lo que se recomienda individualizar cada caso teniendo en cuenta el tamaño, la localización y el tipo histológico(AU)

Introduction: Ectopic pancreas is the second most frequent congenital anomaly after pancreas divisum. It was described for the first time in 1729 by Schultz and it is defined as the presence of pancreatic tissue with no anatomical or vascular communication with the main body of pancreas. The most common location is in the stomach (25-38 percent), followed by the duodenum, jejunum and ileum ones. 40 percent of the cases are symptomatic and is more frequent their presentation in males in the fifth or sixth decade of life. Objective: To present a case of ectopic pancreas diagnosed through a histological study after surgery. Case presentation: Case of a patient with clinical features compatible with hypoglycemia that after being studied showed the presence of ectopic pancreatic tissue in the stomach, with a complete solution of the symptoms after surgical treatment. The pathological anatomy showed a benign tumor nodular lesion (2.5 cm), made up of heterotopic pancreatic tissue, with the presence of exocrine pancreas with acini. Endocrine pancreas with the presence of islets of Langerhans and epithelial component with ducts. Involvement from the submucosa to the subserosa, with a proper muscular wall with muscular hyperplasia in relation to pancreatic heterotopia. The gastric mucosa showed mild chronic inflammation with few lymphoid follicles. Conclusions: The presence of ectopic pancreas is a rare condition, but it should be taken into account in patients with clinical features of hypoglycemia once ruled out other causes. There is no consensus in regards to the indications for the management of small and asymptomatic lesions, so, it is recommended to individualize each case taking into account the size, location and histological type(AU)

All Persistent Pupillary Membranes need not be treated - A case report

Persistent Pupillary Membrane is a common congenital anomaly which appears as a dense network of tissue across the pupil. It is usually asymptomatic, although blurring of vision can be seen in extensive conditions. This is a hospital based case study of an eleven year old girl with bilateral Persistent Pupillary Membrane since birth. The aim of the study is to establish that the treatment approach varies specific to the individual case and when asymptomatic, it can be safely left untreated as in the present study. Surgical Membranectomy, Pupilloplasty, Argon Laser Photocoagulation are the treatment options that can be considered in case of symptomatic conditions.

Atresia bronquial / Bronchial atresia

Introducción: La atresia bronquial es una patología poco frecuente, generalmente asintomática e incidental en las imágenes del tórax. La aproximación diagnóstica de esta entidad se puede hacer por radiografía y broncoscopia, donde se identifican algunos aspectos claves en el diagnóstico diferencial. De acuerdo las manifestaciones clínicas y posibles complicaciones el tratamiento puede ser desde conservador hasta quirúrgico con resección lobar o segmentaria. Objetivo: Presentar las características de un caso con atresia bronquial. Presentación de caso: Se presenta un caso de atresia bronquial en una paciente de 19 años de edad cuyo tratamiento definitivo fue bilobectomía media-inferior derecha. Conclusiones: La atresia bronquial es una entidad infrecuente que puede cursar de manera asintomática y ser detectada por un hallazgo radiológico en pacientes adultos de manera incidental. El diagnóstico se puede confirmar por broncoscopia y el tratamiento casi siempre es quirúrgico(AU)

Introduction: Bronchial atresia is a rare disease, generally asymptomatic and incidental in chest images. The diagnostic approach of this entity can be done by radiography and bronchoscopy, some key aspects are identified in the differential diagnosis. According to the clinical manifestations and possible complications, the treatment can range from conservative to surgical with lobar or segmental resection. Objective: To describe a case of bronchial atresia. Case report: A case of bronchial atresia is reported in a 19-year-old patient whose definitive treatment was a right-lower-middle bilobectomy. Conclusions: Bronchial atresia is a rare entity that can occur asymptomatically and be detected incidentally by a radiological finding in adult patients. The diagnosis can be confirmed by bronchoscopy, and treatment is almost always surgical(AU)

Divertículo de Meckel perforado. Informe de caso / Perforated Meckel's diverticulum. Presentation of a case

Resumen: El divertículo de Meckel es la malformación congénita más frecuente del tracto gastrointestinal. Esta entidad nosológica se manifiesta de forma asintomática en casi la totalidad de los casos y se descubre como hallazgo incidental durante una intervención quirúrgica por otra causa. Si bien no hay diferencias según sexo en pacientes asintomáticos, los síntomas son más frecuentes entre los hombres. La forma sintomática, suele manifestarse como hemorragia digestiva, obstrucción intestinal o abdomen agudo (diverticulitis o perforación diverticular) por orden de frecuencia. Se presenta un paciente masculino de 23 años de edad operado de un divertículo de Meckel perforado. La presentación de un divertículo de Meckel perforado en adultos es infrecuente y su diganóstico preoperatorio es excepcional, no obstante, resulta importante el conocimiento de esta entidad para valorarla dentro de las posibilidades diagnósticas, en aquellos pacientes que aquejen síntomas relacionados con sus complicaciones.

Abstract: Meckel's diverticulum is the most common congenital malformation of the gastrointestinal tract. This nosological entity manifests itself asymptomatically in almost all cases and is discovered as an incidental finding during a surgical intervention for another cause. Although there are no differences according to sex in asymptomatic patients, the symptoms are more frequent among men. The symptomatic form usually manifests as digestive bleeding, intestinal obstruction or acute abdomen (diverticulitis or diverticular perforation) in order of frequency. A 23-year-old male patient operated on for a perforated Meckel's diverticulum was presented as a case report. The presentation of a perforated Meckel's diverticulum in adults is rare and its preoperative diagnosis is exceptional, however, knowledge of this entity is important to have it within the diagnostic possibilities, in those patients who have symptoms related to its complications.

Clinical and anatomopathological descriptions of dog with arterious Hemitruncus: case report / [Descrições clínicas e anatomopatológicas de cão com hemitruncus arterioso: relato de caso

The anomalous origin of the pulmonary trunk in the ascending aorta, defined as arterious hemitruncus, is a rare congenital malformation in dogs, caused by a defect in the spiral septum. Thus, given the unusual occurrence in the canine species, the systemic severity and the high lethality, the aim of this study was to describe this heart disease in a three-month-old male German Spitz puppy, emphasizing clinical changes of the necropsy and microscopics. The animal had cyanosis, dyspnea and weakness and was forwarded for necropsy after sudden death. Numerous changes were detected in the post-mortem examination, including in the heart, as cardiomegaly and absence of the arterial ligament, which was replaced by the complete fusion between the ascending aorta and the pulmonary trunk, after leaving both the left and right ventricles, respectively and, among the microscopic findings, cardiomyocyte hypertrophy stood out. The association of these findings with the history indicated the diagnosis of arterious hemitruncus followed by cardiorespiratory failure, emphasizing the importance of out complementary cardiological exams in young symptomatic patients for the survival of those affected. Arterious hemitruncus, although rare, must be added in the differential diagnosis of other heart diseases that cause similar clinical signs.(AU)

A origem anômala do tronco pulmonar em aorta ascendente, definida como hemitruncus arterioso, é uma malformação congênita rara em cães, causada por defeito no septo espiral. Assim, diante da ocorrência incomum na espécie canina, da gravidade sistêmica e da alta letalidade, o objetivo deste trabalho foi descrever essa doença cardíaca em um filhote de três meses de idade, macho, Spitz Alemão, enfatizando as alterações clínicas, de necropsia e microscópicas. O animal apresentava cianose, dispneia e fraqueza e foi encaminhado para necropsia após morte súbita. Inúmeras alterações foram detectadas no exame post-mortem, inclusive no coração, como cardiomegalia e ausência do ligamento arterioso, o qual foi substituído pela fusão completa entre aorta ascendente e tronco pulmonar, após a saída de ambas dos ventrículos esquerdo e direito, respectivamente, e, dentre os achados microscópicos, destacou-se a hipertrofia de cardiomiócitos. A associação desses achados com o histórico indicou o diagnóstico de hemitruncus arterioso seguido de insuficiência cardiorrespiratória, ressaltando-se a importância de exames complementares cardiológicos em pacientes jovens sintomáticos na sobrevida dos acometidos. O hemitruncus arterioso, apesar de raro, deve ser acrescido no diagnóstico diferencial de outras cardiopatias que causam sinais clínicos similares.(AU)

Ventana aortopulmonar: Reporte de caso / Aortopulmonary window: Case report

RESUMEN La ventana aortopulmonar constituye una infrecuente anomalía cardíaca congénita. En la literatura mundial se han publicado alrededor de 300 casos. Se ha asociado a defectos cardíacos complejos, lo cual dificulta su diagnóstico. Se presenta el caso de un lactante menor con sintomatologia de falla cardíaca congestiva; durante estancia en unidad de cuidados intensivos cursa con múltiples comorbilidades; posterior a lo cual es llevado a cirugía cardíaca correctiva con peso inferior a 2000 gramos, con evolución satisfactoria. Se resalta la importancia de la corrección temprana, con el fin de evitar la progresión a enfermedad vascular pulmonar irreversible.

ABSTRACT Aortopulmonary window is a rare congenital heart defect. About 300 cases have been published in the world literature. It has been associated with complex heart defects, which makes it difficult to diagnose. We present a case of a minor infant with symptomatology of congestive heart failure; during stay in intensive care unit presents multiple co-morbidities. Subsequent to that, it is taken to corrective cardiac surgery with weight inferior to 2000 grams, with satisfactory evolution. The importance of early correction is emphasized in order to avoid progression to irreversible pulmonary vascular disease.

Estafiloma peripapilar, presentación clínica y diagnósticos diferenciales en anomalías congénitas de nervio óptico / Peripapillary staphyloma, clinical presentation, and differential diagnoses in congenital optic nerve anomalies

Un paciente de 3 meses con sospecha de estrabismo presenta al examen una gran anisometropía con -9.50 esfera en su ojo izquierdo y al fondo de ojo destaca una papila alterada similar a la papila de Morning-Glory. Las anomalías congénitas de nervio óptico (ACNO) son un grupo de condiciones que se presentan clínicamente como baja agudeza visual, estrabismo y/o nistagmus. El diagnóstico dife-rencial es clínico y complejo por la sobre posición morfológica entre estas. Los principales diagnósticos diferenciales son la papila deMorning-Glory, el coloboma y la hipoplasia de nervio óptico. Se recomienda manejo multidisciplinario por sus asociaciones sistémicas.

A 3-month-old patient with a suspicion of strabismus on examination has a great anisometropia with -9.50 sphere in his left eye and at the fundus examination an altered papilla similar to the Morning-Glory papilla. Congenital optic nerve abnormalities (ANOC) are a group of conditions that present clinically as low visual acuity, strabismus, and nystagmus. The differential diagnosis is clinical and complex due to the morphological position between them. The main differential diagnoses are the Morning-Glory papilla, the coloboma, and optic nerve hypoplasia. Multidisciplinary management is recommended for its systemic associations.

ALTERAÇÕES NEUROLÓGICAS ASSOCIADAS AO ZIKA VÍRUS: UMA REVISÃO SISTEMÁTICA / NEUROLOGICAL CHANGES ASSOCIATED WITH ZIKA VIRUS: A SYSTEMATIC REVIEW

Recentemente na Polinésia Francesa e no Brasil, quadros severos com comprometimento do sistema nervoso central e microcefalias foram associados ao Zika vírus. O objetivo deste trabalho é identificar as publicações que relacionam a microcefalia pós-infecção pelo Zika vírus. Foi realizada uma Revisão Integrativa utilizando descritores relacionados com o objetivo nas bases de dados Medline, Lilacs e Scielo. Após as etapas iniciais de seleção foram incluídos 22 artigos no estudo. Identificou-se um surto de Zika no Brasil associado a um crescente número de casos com microcefalia congênita, nestas áreas, a microcefalia congênita aumentou em 20 vezes a prevalência antes do surto, sendo o maior aumento na região Nordeste. Verificou-se que a maior parte das publicações identificadas se refere a estudos de casos realizados após a epidemia ocorrida no Brasil. E que o desenvolvimento e o grau dessas anormalidades podem depender de variáveis clínicas como carga viral, fatores do hospedeiro, tempo de infecção aguda ou a presença de condições ainda desconhecidas. Sabe-se que pode afetar mulheres de todos os estratos socioeconômicos e exercer seus efeitos teratogênicos em todos os trimestres da gravidez, porém é mais frequente no primeiro trimestre, e está associada a anomalias cerebrais graves, incluindo calcificações, hipogria cortical, ventriculomegalia e anormalidades da substância branca. Uma avaliação completa desta associação pode revelar-se difícil a partir de dados recolhidos numa epidemia em curso, como no Brasil. O que torna necessários estudos mais amplos que possam identificar fatores/condições que contribuem para a infecção e consequentemente, a ocorrência de microcefalia associada ao Zika vírus

Recently in French Polynesia and Brazil, severe pictures with central nervous system involvement and microcephaly as associated with the Zika virus. The objective of this work is to identify as publications that relate a microcephaly post-infection by the Zika virus. An Integral Review has been performed use goal-related keywords in the Medline, Lilacs, and Scielo databases. After the initial stages of selection, 22 articles were included in the study. An outbreak of Zika in Brazil was associated with an increasing number of cases with congenital microcephaly, in these areas, congenital microcephaly increased by 20 times prevalence before the outbreak, being the largest increase in the Northeast region. It was verified that most of the identified publications refer to case studies carried out after an epidemic occurred in Brazil. What is the development and degree of abnormalities may depend on clinical variables such as viral load, host factors, time of acute infection or presence according to unknown circumstances. It is known to affect women of all socioeconomic strata and to exert its teratogenic effects in all trimesters of pregnancy, but is more frequent in the first trimester, and is associated with severe brain anomalies, including calcifications, cortical hypogria, ventriculomegaly, and white matter. A complete assessment of the association may prove difficult to draw from data collected in an ongoing epidemic, such as in Brazil. This makes it necessary to study the factors / conditions that contribute to an infection and, consequently, an occurrence of microcephaly associated with the Zika virus.

Sirenomelia with Potter syndrome: a case report and review of literature

Sirenomelia or mermaid syndrome is a rare congenital anomaly characterized by variable degree of fusion of lower extremities. Awareness to this rare condition is important for prenatal diagnosis and prognosticating the fetus. The exact etiopathogenesis is still an area of research. Two pathogenic hypotheses are the vascular steal hypothesis and the defective blastogenesis hypothesis with exceptions reported in literature.

Discharge Outcomes of Liveborn Infants With Omphalocele (Isolated Vs Non-isolated)

@#Introduction: The mortality rate due to omphalocele cases remains high. The presence of other congenital anomalies is believed to be one of the factors causing death in patients with omphalocele. The objective of the study was to determine the influence of other congenital anomalies leading to mortality. Methods: We conducted a retrospective cohort study in the neonatal unit of Sardjito General Hospital from March 2008-April 2019. We collected data on factors including sex, mode of delivery, gestational age, birth weight, associated anomalies, management, neonatal complications, need for surgeries, and mortality from our registry and patients’ medical records. We then classified the infants into the isolated omphalocele and non-isolated omphalocele groups. Univariate and multivariate analyses were performed to determine the association of congenital anomalies and other confounding factors with mortality. Results: We identified 73 omphalocele cases during the study period. The hospital occurrence was 4.3/1000 livebirths. We found 45 cases (61.6%) of omphalocele associated with other congenital anomalies including several syndromes (46.7%) such as Patau syndrome and Beckwith-Wiedemann syndrome, congenital heart defects (42.2%), gastrointestinal anomalies (22.2%), neural tube defects (15.6%), cleft palate (11.1%), and syndactyly (0.07%). There was no difference in mortality (25/45 vs 15/28) between the groups (p=0.87). Interestingly, sepsis, pneumonia and gastrointestinal perforation were significantly associated with the survival of infants with omphalocele, with p-value of 0.05, 0.00, and 0.05, respectively. Conclusion: Certain complications might have an impact on survival, but the presence of other congenital anomalies was not significantly associated with the mortality of omphalocele cases.

Delayed Referral and Anesthetic Management of Esophageal Atresia: A Challenge for Multidisciplinary Approach?

@#Esophageal atresia (EA) is one of congenital anomaly which needs early surgical intervention in most cases. The needs of early referral to tertiary healthcare in developing countries like Indonesia may be an issue. Airway management, adequate ventilation and concomitant comorbidities are serious challenges for the anesthesiologist. We reported a case of a 31 days old infant diagnosed as esophageal atresia and fistula in the tracheoesophageal with bilateral pneumonia and early onset of sepsis. Delayed of referral due to limited access to tertiary hospital. Preoperative optimization and stabilization to deal with respiratory problems and inadequate nutrition has done before the definitive surgery. Airway management to ensure adequate ventilation done by careful endotracheal placement. Thoracic epidural catheter was inserted to deliver adequate analgesia and reduce opioid requirements. We transferred the patient to the neonatal intensive care unit following 3 hours of uneventful surgery.

Clinical and epidemiological profile of cleft lip/ palate deformities in Tamil Nadu, India

Background: Cleft lip and palate deformities are commonly detected at the time of birth in most of the developing countries like India. The surgical management of cleft lip/ palate deformities involve multi-disciplinary approach with corrective measures from dental surgeon, plastic surgeon, speech pathologist and audiologist. The role of pediatricians in clinical management of cleft lip is often missed. This study was done to evaluate the clinical profile of cleft lip and palate deformities.Methods: This cross sectional study was carried out among 1077 patients diagnosed with cleft lip or cleft palate deformity for a period of 5 years between 2014 and 2019. A structured patient information schedule was prepared and data regarding the age, gender, antenatal details and parental history were recorded. A detailed clinical examination was carried out to evaluate the presence of complete and incomplete deformity in the lip, alveolus, hard palate and soft palate.Results: Complete cleft lip was present in 47.8% of the participants on the left side while on the right, complete cleft lip was present in 29.4% of the participants. Complete deformity of the alveolus on the left side was present in 45.4% of the participants while complete deformity on the right side of alveolus was present in 27.4% of the participants.Conclusions: It is important the pediatricians sensitize the parents regarding the clinical and supportive management and also initiate the surgical correction of this deformity with help of a multidisciplinary team.

Prevalence and Pattern of Congenital Malformations among Neonates in a Medical College Hospital - A Retrospective Study

Background: Congenital malformations (CMs) represent a major cause of admission in most of the NICU all over the world.They represent a defect in the morphogenesis during early fetal life. With the advances in delivery and newborn care, CMshave emerged as one of the most common causes of perinatal mortality.Objective: The objective of this study was to determine the prevalence and pattern of CMs among neonates in a teaching hospital.Materials and Methods: The retrospective study of live neonates from newborn to 28 days of age both inborn and outbornadmitted to the unit irrespective of their general condition with CMs comprised the study population. Details of investigations likeultrasonography, radiology, echocardiography, laboratory studies have done were noted from the case record. Their outcomein the form of morbidity, hospital stay, and mortality was analyzed.Results: In 2132 babies, with malformations were 87 (4.08%). Of which inborn babies were 3.9% and outborn babies were 4.8%.Of the malformed babies were 54% of male and 45% of female, 1% was DSD. Cesarean delivery was 63.2%, other modes were36.8%. The cardiovascular system was involved in 35.6% of babies, followed by the musculoskeletal system (26.4%), then thegenitourinary system 13.8%, gastrointestinal (9.2%), and central nervous system (10.3%). Maternal risk factors associated withmalformations were maternal diabetes in 2.3%, age between 21 and 30 in 87.4%, and consanguinity in 8%. Maximum mortalityoccurred in babies with cardiovascular system malformations (76.5%). Majority of babies with malformations discharged (65.5%)only 19.5% of babies expired and 15% of babies were referred for intervention at a higher center.Conclusions: CMs represent one of the causes of neonatal mortality. Health-care managers must stress on primary preventionin the form of good antenatal care, nutrition, and drugs to decrease the preventable share of CMs. Early detection and timelymanagement are required to decrease mortality