Função Intestinal e qualidade de vida de pacientes operados por anomalias anorretais e doença de Hirschsprung / Intestinal function and quality of life in patients operated for anorectal anomalies and Hirschsprung's disease

RESUMO Introdução: As Anomalias Anorretais (AAR) e a Doença de Hirschsprung (DH) são doenças congênitas que necessitam de tratamento cirúrgico. O qual está associado a complicações na função intestinal. Objetivo: Avaliar a função intestinal e a qualidade de vida de pacientes operados por AAR e DH. Métodos: Um estudo transversal e descritivo foi realizado com crianças operadas por AAR e DH em dois hospitais terciários entre 2008 e 2018. Foram entrevistados apenas pacientes com idade superior a 3 anos. A população final foi de 12 pacientes. A função intestinal foi avaliada por meio da Classificação Internacional de Krickenbeck para resultados pós- -operatórios. Foi aplicado também um questionário para avaliação da qualidade de vida. Resultados: A média de idade dos pacientes no momento da entrevista foi de 7,08 anos ± 2,28. Dentre os 12 pacientes entrevistados, 66,7% tinham o diagnóstico de AAR e 33,3% de DH. 91,7% dos pacientes apresentavam escapes fecais após a cirurgia. 33,3% da amostra tinham constipação. Apenas um paciente tinha história prévia de enterocolite, e este apresentou o pior escore de qualidade de vida. Os resultados do questionário de qualidade de vida mostraram que o único paciente sem escapes fecais tinha o melhore escore. Além disso, observou-se que os pacientes com malformações altas possuíam piores escores de qualidade de vida. Conclusão: A função intestinal, após o tratamento cirúrgico, estava prejudicada. A maioria dos pacientes apresentou escapes fecais. Esse desfecho parece afetar os escores de qualidade de vida. O que enfatiza a necessidade de seguimento clínico e manejo intestinal após o tratamento cirúrgico. PALAVRA-CHAVE: Malformações anorretais, doença de Hirschsprung, anormalidades congênitas, incontinência fecal, constipação intestinal

ABSTRACT Introduction: Anorectal Anomalies (ARA) and Hirschsprung Disease (DH) are congenital diseases that require surgical treatment, which is associated with complications in intestinal function. Objective: To assess intestinal function and quality of life in patients operated on for ARA and DH. Methods: A crosssectional descriptive study was carried out with children operated on for ARA and DH in two tertiary hospitals between 2008 and 2018. Only patients aged over 3 years were interviewed. The final population consisted of 12 patients. Intestinal function was assessed using the Krickenbeck International Classification for postoperative outcomes. A questionnaire to assess quality of life was also applied. Results: The mean age of patients at the time of the interview was 7.08 years ± 2.28. Among the 12 patients interviewed, 66.7% had a diagnosis of ARA and 33.3% of DH. Fecal leakage after surgery affected 91.7% of the patients, and 33.3% of the sample had constipation. Only one patient had a previous history of enterocolitis, and he had the worst quality of life score. The results of the quality of life questionnaire showed that the only patient without fecal leakage had the best score. Furthermore, it was observed that patients with high malformations had worse quality of life scores. Conclusion: Intestinal function, after surgical treatment, was impaired. Most patients had fecal leakage. This outcome appears to affect quality of life scores. This emphasizes the need for clinical follow-up and intestinal management after surgical treatment. KEYWORDS: Anorectal malformations, Hirschsprung disease, congenital abnormalities, fecal incontinence, constipation

Anal ultrasonography in monitoring and postoperative evaluation of anorectal malformations

Objectives: We aimed to describe anal ultrasound for monitoring anorectal malformations.Methods: A descriptive and retrospective study of patients diagnosed and/or intervened with anorectal malformations rated by anal ultrasonography, between 2016-2017, was performed. We employed a transducer of 10 megahertz to identify the anatomy of the anal channel.Results: Eight patients, 5 men and 3 women were included, with a mean of 8.37 years old (range, 3-11). Three patients had a diagnosis of an anterior anus (not operated). Surgery was performed in 5 patients: 2 had a rectourethral fistula, 1 had a rectovesical fistula, and 1 had a rectovestibular and a perineal fistula. The most significant ultrasound findings were partial absence of the anterior part of the ex-ternal sphincter, internal sphincter hypertrophy in the middle channel, and absence of internal sphincter in the median and high channel plus the absence of external sphincter in the an-terior region. These results belonged to a patient with clinical incontinence and to 2 patients that were previously diagnosed with an anterior anus.Conclusions: Anal ultrasonography is a non-invasive method, economic, and feasible to be performed without anesthesia. It offers useful anatomical information to establish the best therapeutic option. Its main limitation is the unfeasibility of carrying it out on patients under 3 years old.

Objetivos: Describir la ecografía anal en el seguimiento de malformaciones anorrectales.Material y Métodos: estudio descriptivo y retrospectivo de pacientes diagnosticados y/o in-tervenidos de malformaciones anorrectales, evaluados por ecografía anal, entre 2016-2017. Empleamos un transductor de 10 megahercios, identificando la anatomía del canal anal alto, medio y bajo.Resultados: Se incluyeron ocho pacientes, 5 hombres y 3 mujeres, con una media de 8,37 años (rango, 3-11). Tres pacientes tenían diagnóstico de ano anterior (no operados previa-mente). Se intervinieron 5 pacientes: 2 presentaban fístula recto-uretral, 1 fístula recto-vesi-cal, 1 recto-vestibular y 1 fístula perineal.Los hallazgos ecográficos más significativos fueron: ausencia parcial de la parte anterior del esfínter externo, hipertrofia del esfínter interno en el canal medio en un paciente; y ausencia de esfínter interno en el canal medio y alto más ausencia de esfínter externo en la región anterior, en un paciente con incontinencia clínica, ambos pacientes previamente diagnosticados de ano anterior que posteriormente fueron intervenidos.Conclusiones: La ecografía anal es un método no invasivo, económico, factible de realizarse sin anestesia y ofrece una información anatómica útil para establecer la mejor opción terapéutica. Su principal limitación es la imposibilidad de realizarlo en pacientes menores de 3 años.

The colostomy complications in anorectal malformation: a retrospective study

Background: A colostomy is a surgical approach that creates an opening for the colon, or/and large intestine through the abdomen. Anorectal malformations are a group of abnormalities of the rectum and anus that are present at birth. Objective: To analyze the common complications of colostomy in anorectal formations. Methods: This was a retrospective study conducted on 50 temporary colostomies performed in children at the Surgical Department of the Abu Ghraib General Hospital in the period from January 2018 to January 2020. Information was collected regarding the patients' age, sex, body weight, associated anomalies, colostomy types and sites, and the indications and complications of colostomies. Results: A total of 44 (88%) cases were reported in the children's 1st month of life. The ratio of male to female was 1:1. Pelvic colostomy was performed in 48 (96%) patients, as 40 (80%) children underwent a loop-type, and 8 (16%) patients underwent doublebarrel colostomy. Transverse colostomy was performed on two patients. Prolapse occurred in 50% of the patients, and skin excoriations occurred in 22% . A total of 10% of the children developed sepsis. Bleeding was seen in 4% of the children after colostomy performance. Stenosis presented in 6% of the children, and this was corrected by repeated dilatation and re-fashioning. Obstruction of intestines was observed in one patient. The retraction developed in 6% of patients. Conclusions: Imperforate anus was themost common indication for stoma formation in the pediatric age group. Loop colostomy was the most common type used, and it had the highest rate of complications. Prolapses and skin excoriation were the most common complications found. (AU)

Diagnóstico prenatal del síndrome de Currarino completo. Presentación de un caso / Prenatal diagnosis of complete Currarino syndrome. Case report

RESUMEN Fundamento: El síndrome de Currarino es una enfermedad poco frecuente, presenta varias malformaciones conformadas por una tríada: estenosis anal, malformación sacrococcígea y masa presacra; su diagnóstico se realiza con frecuencia en edad adulta. Objetivo: Reportar un caso que se diagnosticó con síndrome de Currarino en etapa fetal. Caso clínico: Se reportó un feto del sexo masculino de 22 semanas de gestación, con síndrome de Currarino que al realizarle la necropsia se constató la presencia de: defecto sacro coccígeo (ausencia total del sacro), masa o tumoración presacra (de aspecto quístico), ano imperforado y ausencia de pliegue interglúteo, estenosis del sigmoide y bolsa escrotal única, riñón único, pélvico y poliquístico, con salida de 2 uréteres. Conclusiones: El síndrome de Currarino se caracteriza por una tríada de presentaciones, en muchos casos se puede pasar por alto y existir subdiagnósticos, por lo que su detección precoz permite evitar complicaciones en la etapa adulta y mejorar la calidad de vida.

ABSTRACT Background: Currarino syndrome is a non-frequently disease, presenting several malformations consisting of a triad: anal stenosis, sacrococcygeal malformation and presacral mass; its diagnosis is habitually performed in adulthood. Objective: To report a case diagnosed with Currarino syndrome in the fetal stage. Case report: A 22-week gestation male fetus with Currarino syndrome, at necropsy he was found to have: sacrococcygeal defect (total absence of the sacrum), presacral mass or tumors (cystic appearance), non-perforated anus and absence of intergluteal fold, sigmoid stenosis and single scrotal pouch, single, pelvic and polycystic kidney, with exit of 2 ureters. Conclusions: Currarino syndrome is characterized by a triad of appearances, in many cases it can be overlooked and underdiagnosed, so early detection can prevent complications in adulthood and improve life quality.

Morbidity of congenital heart disease in children with anorectal malformations and related treatment / 浙江大学学报·医学版

OBJECTIVE@#To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment.@*METHODS@#The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs.@*RESULTS@#Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation (@*CONCLUSIONS@#The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.

Vivencias de los padres o cuidadores de niños con enfermedad de Hirschsprung o con malformaciones anorrectales, bajo seguimiento después de la cirugía / Experiences of parents and/or caretakers of children with Hirschsprung's disease or anorectal malformations during follow-up after pediatric surgery

Resumen Introducción. La enfermedad de Hirschsprung y las malformaciones anorrectales son enfermedades que afectan a los niños y comprometen su vida desde el nacimiento, por lo que su diagnóstico y tratamiento temprano son esenciales. Las comorbilidades que implican a largo plazo llevan a los padres y cuidadores a situaciones que pueden generar graves complicaciones para el niño si no se cuenta con el acompañamiento adecuado. Objetivo. Describir y analizar las vivencias de los padres de niños con enfermedad de Hirschsprung o malformaciones anorrectales bajo seguimiento tras haber sido sometidos a cirugía. Materiales y métodos. Se hizo un estudio cualitativo con un enfoque fenomenológico mediante entrevistas a cinco padres de niños con enfermedad de Hirschsprung y a otros cinco de niños con malformaciones anorrectales. Resultados. Se encontraron experiencias comunes, de las cuales surgieron los siguientes temas: a) el diagnóstico difícil, debido a los sentimientos y al impacto generados por la noticia, situación que no siempre es detectada tempranamente por el personal de salud; b) el tratamiento, el cual provoca aislamiento social por las hospitalizaciones y la presencia de una ostomía, además de que los recursos se concentran en el niño en detrimento del hogar; se requiere capacidad de afrontamiento para lograr la reparación quirúrgica definitiva, y c) el contexto, ya que las instituciones de salud pueden convertirse en barreras; además, el personal de salud debe disponer de mayor educación al respecto y son necesarias las redes de apoyo social. Conclusión. Las vivencias reflejan que el diagnóstico, el tratamiento y el contexto generan un gran impacto en las vidas de los padres o cuidadores de niños con estas condiciones.

Abstract Introduction: Hirschsprung's disease and anorectal malformations are pathologies that affect the pediatric population and compromise life from birth, making diagnosis and early treatment essential. The comorbidities they lead to in the long-term take parents and caretakers to situations that, without proper accompaniment, can generate serious complications in the child. Objective: To describe the meaning of the experiences of parents of children with Hirschsprung's disease or anorectal malformations who have had surgical treatment and are being followed-up. Materials and methods: This was a phenomenological qualitative research carried out through interviews with five parents of children with Hirschsprung's disease and five parents of children with anorectal malformations. Results: We found common experiences from which the following topics emerged: a) Difficult diagnosis, which involves the feelings and the impact generated by receiving this news; for health personnel it is not always a situation that is identified early; b) treatment: Social isolation due to hospitalizations and the presence of an ostomy, in addition to the channeling of resources for the child at the expense of those of the home; coping skills are required to achieve definitive surgical repair; and c) context: Health institutions may become barriers and health personnel must have more education in this regard; social support networks are necessary. Conclusion: The experiences reflected that diagnosis, treatment, and context generated great impact on the lives of parents and/or caretakers of children with these pathologies.

Descenso transanal endorrectal De la Torre como tratamiento de enfermedad de hirschsprung, Hospital Escuela, 2013-2015 / Transanal endorectal pull-through de la torre as treatment for Hirschsprung ́s disease, University Hospital, 2013-2015

. Antecedentes: La enfermedad de Hirschsprung (EH) es causa de obstrucción intestinal baja en neonatos. En 1998, De la Torre y Ortega publicaron una importante modificación a la técnica de Soave, realizando un descenso transanal endorrectal. Objetivo:Describir la experiencia en el tratamiento de la Enfermedad de Hirschsprung mediante la técnica descrita por De la Torre, Hospital Escuela, Tegucigalpa, 2013-2015. Metodología: Estudio descriptivo transversal. Se revisaron expedientes clínicos y se registró información sobre características sociodemográficas y clínicas de los pacientes. Los resultados se presentan como frecuencias y porcentajes de las variables estudiadas. La información personal de los pacientes se manejó confidencialmente. Resultados: Se identificó un total de26 casos intervenidos en el periodo del estudio. El 73.1% (19) pertenecía al sexo masculino, 46.2% (12) se diagnosticó antes de 12 meses de vida; sin enfermedades asociadas. La biopsia diagnosticó la enfermedad en el 100% de los casos. La longitud del colon resecado fue de 10-20 cm en 88.5% (23), con un tiempo quirúrgico de 4-5 horas 69.2% (18). El 19.2% (5) presentó complicaciones. Se inició alimentos en menos de 5 días en 96.1% (25), la estancia hospitalaria fue menor a 7 días en 88.5% (23). Discusión: El descenso endorrectal transanal es una operación segura con pocas complicaciones operatorias y postoperatorias. En este estudio, la estancia hospitalaria y el tiempo hasta la alimentación oral completa fueron más cortos que los procedimientos convencionales lo que generó menores costes hospitalarios. Consideramos que ésta es la técnica de elección para enfermos con la Enfermedad de Hirschsprung...(AU)

Abnormal expression of TBX4 during anorectal development in rat embryos with ethylenethiourea-induced anorectal malformations

BACKGROUND: To assess the expression of T-box transcription factor 4 (TBX4) during the anorectal development in normal and ethylenethiourea (ETU)-induced anorectal malformations (ARM) rat embryos. METHODS: Anorectal malformations was induced by ETU on the 10th gestational day (E10) in rat embryos. Spatiotemporal expression of TBX4 was evaluated in normal (n = 490) and ETU-induced ARM rat embryos (n = 455) from E13 to E16 by immunohistochemical staining, Western blot analysis and real-time RT-PCR. RESULTS: In the normal embryos, immunohistochemical staining revealed that TBX4 expression was detected in the epithelium of hindgut and urorectal septum (URS) on E13. TBX4-immunopositive cells were increased significantly in the epithelium of hindgut and URS, the future anal orifice part of cloacal membrane on E14. On E15, abundant stained cells were observed in the rectum, URS and dorsal cloacal membrane and the expression of positive cells reached its peak. On E16, only sporadic positive cells were distributed in the epithelium of the distal rectum. In the ARM embryos, the hindgut/rectum, URS and dorsal cloacal membrane were faint for TBX4 immunohistochemical staining. In the normal group, TBX4 protein and mRNA expression showed time-dependent changes in the hindgut/rectum from E13 to E16 on Western blot and real-time RT-PCR. On E13 and E15, the expression level of TBX4 mRNA in the ARM group was significantly lower than that in the normal group (P < 0.05). On E15, the expression level of TBX4 protein in the ARM group was significantly lower than that in the normal group (P < 0.05). CONCLUSIONS: The expression of TBX4 was downregulated in ETU-induced ARM embryos, which may play important roles in the pathogenesis of anorectal development.

Síndrome de Mayer-Rokitansky- Küster-Hauser asociado con malformación anorectal / Mayer-Rokitansky-Küster-Hauser syndrome associated with anorectal malformation

La agenesia vaginal es una entidad poco frecuente que puede presentarse en forma aislada o acompañada de otras anomalías congénitas. El desconocimiento de esta asociación puede retardar su diagnóstico, causar complicaciones indeseadas y comprometer el resultado del tratamiento. Se describen tres casos clínicos con agenesia vaginal y malformación anorrectal, cuyos diagnósticos no fueron realizados en el momento del nacimiento. Aunque la coexistencia de anomalías vaginales y anorectales sean poco frecuentes, los médicos responsables de su tratamiento deben ser conscientes de su existencia y practicar examen perineal cuidadoso.

Vaginal agenesis is a rare condition. It may exist in isolation or be associated with other congenital anomalies. A lack of awareness on this association may delay diagnosis, cause undesirable complications and compromise treatment outcomes. We describe three cases of vaginal agenesis associated with anorectal malformation which were not diagnosed at birth. Although the coexistence of vaginal and anorectal anomalies is uncommon, treating physicians should be aware of them and perform a detailed perineal examination.

Cuidado de transición de la adolescencia a la edad adulta / Transitional care from adolescence to adulthood

RESUMEN El cuidado de transición tiene como objetivo facilitar la transferencia efectiva de niños que padecen enfermedades crónicas al personal médico encargado de la atención del adulto, garantizando el apropiado manejo a largo plazo, la identificación temprana de posibles complicaciones, la reducción de la morbilidad y los costos en la prestación de los servicios de salud. En varios países, existen avances significativos acerca de este concepto, en los que se ha llegado incluso a establecer un consenso sobre los aspectos necesarios para el desarrollo del cuidado transicional, el cual comprende los principios generales desde la política hasta su implementación, alcanzando buenos resultados en los pacientes. A pesar de estos avances, en muchos países como Colombia, donde la población pediátrica que padece enfermedades crónicas que llegan a la adolescencia y que alcanzan la edad adulta viene en aumento, poco se conoce sobre el cuidado transicional, siendo necesario que se generen investigaciones y trabajos interdisciplinarios para atender las múltiples necesidades de esta población emergente, de sus familiares y cuidadores.(AU)

ABSTRACT Transitional care aims to facilitate the effective transfer of children suffering from chronic diseases to the medical staff in charge of adult care, ensuring appropriate long-term management, early identification of possible complications, and reduction of morbidity and costs associated with the provision of health services. In several countries, significant progress in this regard has been made, and even consensus on the aspects necessary for the development of transitional care has been reached, including the general principles from the policy to its implementation, with good results in the patients. Despite these advances, in many countries such as Colombia, where the pediatric population suffering from chronic diseases that reach adolescence and then adulthood Is on the rise, little is known about transitional care. It is necessary to generate research and interdisciplinary works to meet the multiple needs of this emerging population, their families and caregivers.(AU)

Anorectal Malformation with Associated Duodenal Obstruction and Uterus Didelphys / Malformación anorrectal asociada con obstrucción duodenal y útero didelfo

ABSTRACT Anorectal malformations have long been associated with multiple other anomalies, commonly referred to as the VACTERL complex. We present a case of a newborn baby girl with an unusually high number of associated anomalies, including the rarely encountered condition of uterus didelphys.

RESUMEN Las malformaciones anorrectales se han asociado por mucho tiempo con otras anomalías, conocidas comúnmente como asociación VACTERL. Presentamos el caso de una niña recién nacida con un número inusualmente alto de anomalías asociadas, incluyendo una condición raramente encontrada conocida como útero didelfo.

A novel four quadrant laser sphincterotomy for idiopathic severe anal stenosis / Nova esfincterotomia a laser nos quatro quadrantes para estenose anal idiopática grave

ABSTRACT Anal stricture or stenosis, though uncommon, is disabling condition. It affects the quality of life due to pain, bleeding and difficulty in defecation, incontinence or increased frequency. It occurs when the normally pliable anoderm is replaced with fibrotic connective tissue, leading to an abnormally tight and inelastic anal canal. Mostly it occurs secondary to trauma, iatrogeny, inflammatory diseases, radiation or neoplasia. The treatment of anal stricture is generally considered to be difficult and various methods of treatment have been suggested. It is often unresponsive to conservative medical management. The surgical procedures such as dilatations and anoplasty are associated with significant complications which make it a difficult treatment challenge. Several good treatment options are available currently. Through this case, we report and explore a new medical treatment for anal strictures with four quadrant laser sphincterotomy.

RESUMO A estritura ou estenose anal, embora incomum, é problema incapacitante. Essa condição afeta a qualidade de vida por causa da dor, do sangramento e da dificuldade de defecação, de incontinência ou aumento da frequência. A estenose anal ocorre quando o anoderma, normalmente flexível, foi substituído por tecido conjuntivo fibrótico, e o resultado é um canal anal anormalmente estenosado e inelástico. Na maioria dos casos, a estenose anal ocorre secundariamente a trauma, por causa iatrogênica, por doença inflamatória, radiação ou neoplasia. Em geral, se considera que o tratamento dessa condição é tarefa difícil, tendo sido sugeridos diversos métodos de tratamento. Com frequência a estenose anal não responde ao tratamento clínico conservador. Procedimentos cirúrgicos como as dilatações ou a anoplastia estão associados a complicações significativas, implicando difícil desafio terapêutico. Atualmente, o cirurgião conta com várias opções terapêuticas satisfatórias. No presente caso, relatamos e exploramos um novo tratamento clínico para estenoses anais, por meio da esfincterotomia a laser nos quatro quadrantes.

Triplicación tubular total de colon asociado a malformación ano rectal: reporte de un caso / Total tubular triplication of colon with anorectal malformation: a case report

La triplicación tubular total de colon es un caso único de presentación en nuestro medio, existen solo 9 casos reportados hasta el 2009 en la literatura mundial. Es una rara variación de la duplicación del intestino posterior, la patogenia probablemente sea similar al de la duplicación colónica. Se presenta el caso de un paciente varón de 38 semanas de gestación con malformación ano rectal, sin fístula evidente, se sometió a cirugía para sigmoidostomia. Ante el hallazgo inesperado del sigmoides triplicado se revisó todo el colon, encontrándose en toda su longitud, tres segmentos unidos entre sí, sin posibilidad de división uno del otro. El postoperatorio cursó sin complicaciones, sin embargo, el paciente falleció por Neumonia Staphilococica Multiresistente, 15 meses después, tras reiterados cuadros respiratorios. Se informa este caso, por la rareza de su conformación, la ausencia de reportes en la literatura nacional y muy escasas patologías con similares características de presentación a nivel mundial.

The total tubular triplication of the colon is a unique case reported in our environment; only 9 cases were reported up to 2009 in world literature. It's a rare variation of hindgut duplication, the pathogenesis is probably a similar theory of colonic duplication. A case report of 38 weeks of gestation male patient with anorectal malformation and without evident fistula; the patient had undergone surgery for sigmoidostomy. The unexpected finding of triplication sigmoid led to the complete evaluation of the colon. Consequently, it was found three joined segments in the whole length with any possibility to separate one from another. The postoperative period was without complications however, the patient died because of a Multi-Resistant Sthaphylococcus Pneumonia The present case is reported due to the rarity of its conformation and the absence of reports in the national literature and more little patholgyes with similar characteristics of presentation.

Síndrome de Currarino como enfermedad infrecuente dentro del diagnóstico diferencial de la patología anexial oncológica / Currarino Syndrome as a Rare Disease in the Differential Diagnosis of Oncological Adnexal Pathology

El Síndrome de Currarino se define como la presencia de una tríada característica que asocia: estenosis anal, malformación sacrococcígea y masa presacra. La escasa sintomatología, caracterizada además por su inespecificidad, provoca que en muchas ocasiones el diagnóstico se realice durante la edad adulta y pueda confundirse con patologías ginecológicas, de origen predominantemente oncológico. El diagnóstico mediante pruebas de imagen, se realiza fundamentalmente a través de la resonancia magnética nuclear. La extirpación quirúrgica de la masa presacra unida al tratamiento sintomático del resto de la triada son la base terapéutica de esta infrecuente patología. Presentamos el caso de una paciente de 20 años de edad con estreñimiento crónico y dolor abdominal inespecífico. Es enviada al Servicio de Ginecología por la presencia de una masa de gran tamaño que se supone de origen anexial. Tras el estudio exhaustivo de dicha paciente, se llegó a la conclusión diagnóstica de que dicha tumoración corresponde a un meningocele, asociado a agenesia parcial sacra y estenosis anal; tríada que define al Síndrome de Currarino.

Currarino Syndrome is defined as the presence of a characteristic triad that associates anal stricture, sacrococcygeal malformation and presacral mass defines this syndrome. The scarce symptomology, also characterized by nonspecific symptoms, conditions that in many cases the diagnosis is made in adulthood and can be confused with gynecological pathologies. The diagnosis is made by imaging tests, fundamentally the NMR (nuclear magnetic resonance). The main treatment is the surgical excision of the mass presacra together with the symptomatic treatment of the rest of symptoms. We present the case of a 20-year-old patient with chronic constipation and abdominal pain that is referred to Gynecology due to the presence of a mass that is supposed to be adnexal. After the study of this patient is diagnosed a meningocele, associated with partial sacral agenesis and anal stricture, triad that defines Currarino Syndrome.

Surgical management of anal stenosis: anoplasty with or without sphincterotomy / Tratamento cirúrgico da estenose anal: anoplastia com ou sem esfincterotomia

ABSTRACT Aim: Anal stenosis is an uncommon complication of anorectal surgery, mostly resulting from circumferential hemorrhoidectomy or resection of the skin tag in surgical management of chronic anal fissure. The aim of anoplasty is to restore normal function to the anus by dividing the stricture and widening the anal canal. Internal sphincterotomy may cause gas incontinence and if we manage the stenosis without sphincterotomy it could be failed. Could we use anoplasty without sphincterotomy? Method: The patients with anal stenosis were assigned in to two groups. The first group underwent Y-V anoplasty without partial lateral internal sphinctrotomy and the second one underwent Y-V anoplasty with partial lateral internal sphinctrotomy. Result: A total of 25 patients (10 male and 15 female) underwent anoplasty, 14 without partial lateral internal sphincterotomy and 11 patients with partial lateral internal sphincterotomy. The healing rate of stenosis was 91% and 93% in groups undergoing anoplasty without partial lateral internal sphinctrotomy and anoplasty with partial lateral internal sphictrotomy, respectively (p value 0.69). There was no significant change in both groups for post-operative incontinence complaints. Conclusion: The healing rate of anal stenosis was the same in the patients who underwent Y-V anoplasty with or without partial lateral internal sphinctrotomy. There was no significant change in post-operation incontinence between the two groups. Therefore, Y-V anoplasty would be a safe and simple surgical method in selected patients. Partial lateral internal sphinctrotomy procedure has been noticed in individual cases.

RESUMO Objetivo: A estenose anal é complicação incomum da cirurgia anorretal, sendo principalmente resultante de uma hemorroidectomia circunferencial ou ressecção do pólipo cutâneo no tratamento cirúrgico da fissura anal crônica. O objetivo da anoplastia é a restauração da função normal do ânus, mediante a divisão da constrição e alargamento do canal anal. A esfincterotomia interna pode causar incontinência gasosa; e se tratarmos a estenose sem esfincterotomia, poderá ocorrer insucesso. Poderíamos usar a anoplastia sem esfincterotomia? Método: Os pacientes com estenose anal foram designados para dois grupos. O primeiro grupo foi tratado com anoplastia em Y-V sem esfincterotomia interna lateral parcial, e o segundo grupo foi tratado com anoplastia em Y-V com esfincterotomia interna lateral parcial. Resultado: No total, 25 pacientes (10 homens e 15 mulheres) foram tratados com anoplastia-14 sem esfincterotomia interna lateral parcial, e 11 com esfincterotomia interna lateral parcial. Os percentuais de cura da estenose foram de 91% e 93% nos grupos tratados com anoplastia sem esfincterotomia interna lateral parcial e com esfincterotomia interna lateral parcial, respectivamente (p = 0,69). Não ocorreu mudança significativa nos dois grupos com relação às queixas de incontinência pós-operatória. Conclusão: O percentual de cura da estenose anal foi igual nos pacientes tratados com anoplastia em Y-V com ou sem esfincterotomia interna lateral parcial. Não foi observada mudança significativa na incontinência pós-operatória entre os dois grupos. Portanto, a anoplastia em Y-V seria um método cirúrgico seguro e simples em pacientes selecionados. Em casos isolados, o procedimento de esfincterotomia interna lateral parcial tem sido observado.

Características y enfoque terapéutico de pacientes con malformaciones anorrectales en dos Hospitales sampedranos / Clinical characteristics and therapeutic approach of patients with Anorrectal Malformations in two Hospitals of San Pedro Sula

Antecedentes: Las malformaciones anorrec-tales (MAR) se componen de una amplia gama de anormalidades que se asocian con varias patologías. Afectan tanto al sexo masculino como femenino, en algunos casos incluyen al aparato urinario y genital. Objetivo: Describir las características clínicas y el enfoque tera-péutico de pacientes con Malformaciones Anorrectales en dos Hospitales de San Pedro Sula, Honduras, durante los años 2012 al 2016. Pacientes y Métodos: Estudio cuantitativo, descriptivo, transversal, realizado en pacientes con malformación anorrectal del Hospital Nacional Dr. Mario Catarino Rivas y el Hospital de Niños Quemados y Cirugía Pediátrica Ruth Paz. La muestra fueron 94 pacientes, la infor-mación se obtuvo del expediente clínico y se procesó en el software estadístico IBM SPSS 22. Resultados: En cuanto al sexo, 53.2% (n=50) eran mujeres y 46.8% (n=44) hombres, 30.9% (n=29) tenían un año de edad, 51.1% (n=48) provenían del departamento de Cortés. En los hombres, se encontró fístula perineal en 30.2% (n=14) pacientes y en las mujeres se encontró fístula rectovestibular en 37.3% (n=19), se encontró asociación a otro tipo de malformaciones congénitas en 29% (n=27) de los pacientes. El tratamiento consistió en colostomía protectora seguido de Anorrecto-plastía sagital posterior tipo Peña y por último el programa de dilataciones anorrectalesa 59.6% (n=56) y 85.3% no presentó complica-ciones quirúrgicas. Conclusiones: Las mal- formaciones anorrectales en este estudio afec-taron más a las mujeres que a los hombres, la edad que predominó fueron los pacientes de 1 año, procedentes en su mayoría del departa-mento de Cortés, especí camente de San Pedro Sula...(AU)

Long-term evaluation of fecal continence and quality of life in patients operated for anorectal malformations / Avaliação tardia da continência fecal e da qualidade de vida em pacientes operados por malformações anorretais

Summary Introduction: Patients operated for correction of anorectal malformations (ARM) can develop fecal incontinence, constipation, and soiling, with loss in quality of life. Objective: To evaluate, through the use of questionnaires, fecal continence, and quality of life of children in the late postoperative follow-up of ARM correction, both high and low. In addition, the levels of fecal continence and quality of life were compared with those of a control group. Method: A Fecal Continence Index Questionnaire (ICF) and a Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents (QQVCFCA) were administered to 63 patients with ARM, aged from 7 to 19 years, whose surgical treatment had been completed for at least 6 months. The patients were compared to a control group of 59 children. Results: In the control group, 25 (42.4%) patients had good continence and 34 (57.6%), normal continence. We found that the quality of life in children with ARM is compromised globally, in all areas and in the ICF questionnaire, compared to controls (p<0.001). There was no difference between patients with high and low defects. Thirty-two (50.8%) patients had other associated anomalies. Conclusion: In patients operated for ARM correction, quality of life and ICF were compromised, and there was no difference between patients with high-type and low-type of the disease. In about half the cases there are other associated malformations.

Resumo Introdução: os pacientes operados para correção de malformações anorretais (MAR) podem evoluir com incontinência fecal, constipação e soiling, com prejuízo na qualidade de vida. Objetivo: avaliar pela aplicação de questionários a continência fecal e a qualidade de vida de crianças no seguimento pós-operatório tardio de correção de MAR, formas altas e baixas. Também foram comparados os índices de continência fecal e qualidade de vida com um grupo controle de crianças. Método: foram utilizados o Questionário para o Índice de Continência Fecal (ICF) e o Questionário para Avaliar a Qualidade de Vida Relativa à Continência Fecal em Crianças e Adolescentes (QQVCFCA). Os questionários foram aplicados em 63 pacientes de 7 a 19 anos com MAR, com tratamento cirúrgico finalizado há pelo menos 6 meses. Os pacientes foram comparados com um grupo controle de 59 crianças. Resultados: nos pacientes do grupo controle, 25 (42,4%) apresentaram boa continência e 34 (57,6%), normal. A qualidade de vida nas crianças com MAR está comprometida globalmente, em todos os domínios e no ICF, quando comparada com a dos controles (p<0,001). Não houve diferença entre os pacientes com anomalias altas e anomalias baixas. Trinta e dois (50,8%) pacientes apresentaram outras anomalias associadas. Conclusão: nos pacientes operados para correção de MAR, qualidade de vida e ICF foram comprometidos, não havendo diferença entre os pacientes com as formas altas ou baixas da doença. Em cerca de metade dos casos existem outras malformações associadas.

Malformaciones anorrectales: diagnóstico y tratamiento, cinco años de experiencia, Honduras / Anorectal Malformations: diagnosis and treatment. A five years experience. Honduras

Introducción: Las malformaciones anorrectales (MAR) son un espectro de trastornos raros del recto y del ano, con anatomía variable y resultados impredecibles a largo plazo. El objetivo de este estudio fue revisar retrospectivamente la clasificación, el diagnóstico y la experiencia quirúrgica de las malformaciones anorrectales. Material y métodos: Incluimos en este estudio todos los pacientes con malformación anorrectal nacidos en el periodo 2010-2015. Resultados: En este estudio se incluyó a una serie de 70 niños, de los cuales 31 eran hombres y 39 mujeres. En los pacientes varones, 38,71% (12) tenían fístulas perineales, 25,81% (8) tenían fístulas uretrales y 25,81 (8) tenían fístulas rectocuellovesical, sin fístula 9,68% (3). En las mujeres, el 7,69% (3) tenían fístulas perineales, el 61,54% (24) tenían fístulas rectovestibulares. Cinco pacientes no presentaron fístula (12,82%). Las anomalías asociadas estaban presentes en 35,71% (25) pacientes, y la mayoría de las anomalías asociadas fueron genitourinarias y cardiovasculares. Las complicaciones postoperatorias se relacionaron con Anorrectoplastia Sagital Posterior (PSARP) en el 40% (9,3%) de los pacientes. No hubo mortalidad. Discusión: La Malformación anorrectal en la etapa neonatal puede abarcar un amplio espectro de malformaciones asociadas, que afectan tanto a niños como a niñas. Se han producido avances significativos en el manejo de las malformaciones anorrectales, sin embargo, muchos pacientes aún presentan complicaciones en la técnica operatoria, con frecuencia catastróficas, potencialmente evitables...(AU)

Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation / 中华胃肠外科杂志

Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.

Asociación de fistula rectovaginal congénita con ano normal (Fístulas Tipo H) y atresia rectal en una paciente. Reporte de un caso y breve revisión de la literatura / Congenital recto-vaginal fistula associated with a normal anus (type H fistula) and rectal atresia in a patient. Report of a case and a brief revision of the literature.

Las malformaciones ano-rectales del tipo de fístulas recto-urogenitales congénitas con ano normal y atresia rectal son anomalías poco frecuentes. Se discute el caso de una niña con la asociación de estas dos entidades, acompañada además de una vagina doble, quien fue llevada a la consulta a los siete días de vida por la expulsión de heces a través de los genitales. Las malformaciones fueron corregidas a través de un abordaje sagital posterior, con descenso del recto hasta el ano sin disección perineal. El tabique vaginal fue resecado a través de la vulva. En la actualidad no hay evidencia de recurrencia de la fístula recto-vaginal.

Congenital recto-urogenital type fistulas with a normal anus and rectal atresia, represent both anorectal malformations that are infrequently seen in clinical practice. We describe the case of a girl with an association of these two anomalies, together with a double vagina who, on her seventh day of life, expelled feces through her genitals. The malformations were corrected by means of a posterior sagittal approach, descending from the rectum to the anus without perineal dissection. The vaginal septum was resected thru the vulva. There is no evidence of recurrence of the recto-vaginal fistula.