Riñón pélvico fusionado con uréter único, hidrometrocolpos y ano imperforado: conjunción de malformaciones infrecuentes en una adolescente / Pancake kidney with a single ureter, hydrometrocolpos, and imperforate anus: a set of uncommon malformations in a female adolescent

Una niña de 11 años de edad con antecedentes de ano imperforado, infección urinaria y episodios de constipación intermitentes se presentó a la consulta con cólicos abdominales y náuseas de una semana de evolución. Estudios radiológicos revelaron hidrometrocolpos y fusión renal pélvica con uréter único hidronefrótico. El examen vaginal evidenció un tabique transverso no permeable. Se evacuó temporalmente la colección con resolución de los síntomas. La paciente fue programada para cirugía vaginal reconstructiva definitiva. Se destaca en este caso no solo la asociación de malformaciones infrecuentes, sino una sintomatología muy común en la práctica pediátrica a causa de una patología rara vez considerada en el diagnóstico diferencial, y la importancia de una evaluación precoz y completa de este tipo de malformaciones para un tratamiento oportuno.

An 11-year-old girl with a history of imperforate anus, urinary tract infection, and intermittent episodes of constipation presented with abdominal pain and nausea for 1 week. The x-rays revealed hydrometrocolpos and fused pelvic kidney with a single hydronephrotic ureter. The vaginal examination revealed a non-permeable transverse vaginal septum. The collection was temporarily drained and symptoms resolved. The patient was scheduled for definitive vaginal reconstructive surgery. In this case, it is worth noting the association of infrequent malformations and also the signs and symptoms very common in pediatric practice due to a pathology rarely considered in the differential diagnosis, and the importance of an early and complete assessment of this type of malformations for a timely treatment.

Diagnóstico prenatal del complejo onfalocele, extrofia cloacal, ano imperforado y defecto de la columna vertebral (complejo OEIS) / Prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex)

RESUMEN El complejo onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (Complejo OEIS) es una combinación de malformaciones congénitas severas y extremadamente raras. Su incidencia es estimada en 1 por cada 200.000 - 400.000 nacidos vivos. La aparición de los casos es esporádica y no tiene una etiología conocida. Algunos han sido asociados a exposiciones ambientales, causas genéticas y procedimientos de fertilización in vitro. El mecanismo de desarrollo parece asociado a alteraciones de la blastogénesis temprana o defecto de la migración mesodérmica durante el período embrionario. El diagnóstico prenatal puede realizarse a las 16 semanas de gestación, aunque en ocasiones es posible un diagnóstico más temprano. Su diagnóstico definitivo se realiza con los hallazgos de la necropsia. La mayoría de los recién nacidos supervivientes necesitan múltiples cirugías con complicaciones potenciales y no siempre se alcanza los resultados deseados. Se presenta un caso de diagnóstico prenatal de onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (complejo OEIS).

ABSTRACT Omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex) is a combination of severe and extremely rare congenital malformations. Its incidence is estimated at 1 per 200,000 - 400,000 live births. The occurrence of cases is sporadic and has no known etiology. Some have been associated with environmental exposures, genetic causes, and in vitro fertilization procedures. The mechanism of development appears to be associated with alterations in early blastogenesis or defect in mesodermal migration during the embryonic period. Prenatal diagnosis can be made at 16 weeks of gestation, although earlier diagnosis is sometimes possible. Definitive diagnosis is made necropsy findings. Most surviving newborns require multiple surgeries with potential complications and the desired results are not always achieved. A case of prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies (OEIS complex) is presented.

Atresia esofágica tipo III associada a ânus imperfurado: um relato de caso / Esophageal atresia type III associated to imperforate anus: a case report

Introdução: As malformações congênitas são defeitos que ocorrem durante o desenvolvimento embrio-fetal, principalmente entre a terceira e oitava semana de gestação, podendo ser suspeitado no período pré-natal. A atresia de esôfago com ou sem fístula traqueoesofágica pode estar associada a outras anomalias congênitas, como o ânus imperfurado, o qual faz parte uma síndrome denominada malformação anorretal. Objetivo: discutir o caso de um recém-nascido (RN) portador de atresia de esôfago tipo III e ânus imperfurado, bem como associar suas ocorrências simultâneas. Relato de caso: paciente do sexo masculino, advindo de uma gestação gemelar complicada por pré-eclâmpsia, apresentava ao nascimento ausência do reflexo de busca e sucção, bradicardia e cianose central. Foi diagnosticado com ânus imperfurado e atresia esofágica. Foram realizados cirurgia de Colostomia em Duas Bocas e tratamento cirúrgico da atresia de esôfago. O paciente ficou 48 dias em incubadora com intubação orotraqueal e ventilação mecânica por 26 dias. Resultado: a programação pós- alta indicada foi o acompanhamento com cirurgião pediátrico e neurocirurgião, tendo evoluído bem e aguardando anorretoplastia. Conclusão: o rápido diagnóstico é tão necessário, nesses casos, quanto as abordagens cirúrgicas. O apoio psicológico aos familiares é de extrema importância, pois visa a melhor aceitação da família frente ao caso, propiciando dessa forma, melhores prognóstico e tratamento do paciente.

Introduction: Congenital malformations are defects that occur during embryo-fetal development, especially between the third and eighth week of pregnancy, and may be suspected in the prenatal period. Esophageal atresia with or without tracheoesophageal fistula may be associated with other congenital anomalies, such as the imperforate anus, which is part of a syndrome called anorectal malformation. Objective: to discuss the case of a newborn (NB) with type III esophageal atresia and imperforate anus, as well as to associate its simultaneous occurrences. Case report: male patient, resulting from a twin pregnancy complicated by pre-eclampsia, had at birth the absence of the search and suction reflex, bradycardia and central cyanosis. He was diagnosed with imperforate anus and esophageal atresia. Double-barrel colostomy surgery and esophageal atresia surgery were performed. The patient spent 48 days in an incubator with orotracheal intubation and mechanical ventilation for 26 days. Results: the post-discharge schedule indicated was for follow-up with a pediatric surgeon and neurosurgeon. Patient evolved well and awaits anorectomy. Conclusion: rapid diagnosis is as necessary in these cases as surgical approaches. Psychological support to family members is extremely important, as it aims at better family acceptance in the case, thus providing better prognosis and treatment for the patient.

Síndrome Towens-Brocks, presentación de caso / Towens-Brocks syndrome. Presentation of a case

RESUMEN Introducción: el Síndrome Townes-Brocks es una enfermedad genética malformativa, que se hereda de forma autosómica dominante, con penetrancia completa y expresividad muy variable. Caracterizada por una triada de defectos congénitos nivel de oído externo, anorrectales, y en la parte distal de las extremidades, sobre todo a nivel de los pulgares, causado por mutaciones en el gen SALL1, que codifica para el factor de transcripción, localizado en cromosoma 16q12.1. Presentación de caso: se presenta una lactante de nueve meses que al nacimiento se diagnosticó ano imperforado, apéndices preauriculares y primer dedo bífido. Se realizó de inmediato el diagnóstico clínico y la intervención quirúrgica que terminó en colostomía bien tolerada, se logró buena nutrición y desarrollo psicomotor. Conclusiones: se considera el diagnóstico clínico precoz, importante para efectuar intervenciones oportunas que permitan mejorar las funciones vitales de estos enfermos, así como brindar un adecuado asesoramiento genético a las familias.

ABSTRACT Introduction: Townes-Brocks syndrome is a malformation genetic disease, is an autosomal dominant genetic disorder, with complete penetrance and highly variable expressivity. It is characterized by a triad of congenital defects at the level of the external ear, anorectal and distal extremities, especially at the level of the thumbs, caused by mutations in the SALL1 gene, which codes for the transcription factor, located on chromosome 16q12.1. Case presentation: a 9-month-old female infant was diagnosed at birth with imperforate anus, preauricular appendix and bifid first finger. The clinical diagnosis was immediately made and the surgical intervention ended in a well-tolerated colostomy, achieving good nutrition and psychomotor development. Conclusions: early clinical diagnosis is considered important to carry out timely interventions to improve the vital functions on these patients, as well as to provide adequate genetic counseling to the families.

Himen imperforado con hematocolpos. A propósito de un caso / Imperforate hymen with hematocolpos. Apropos of a case

RESUMEN Los defectos en la canalización de la membrana himeneal causan obstrucción del tracto genital femenino. Como consecuencia aparece hematocolpos, resultante de la acumulación y retención de secreciones cervicovaginales -sangre en útero y vagina-, ante la imposibilidad de su evacuación por la presencia de un himen imperforado. Clínicamente aparece masa abdominal, asociada con malformaciones vaginales congénitas. Se presentó el caso de una adolescente de 13 años que refirió retención urinaria, disuria, dolor y masa en hipogastrio, y ausencia de la menarquía a pesar de un desarrollo puberal en estadio Tanner III. Al realizar ultrasonido se constató sangre en el útero, debido a imperforación himeneal que se resolvió mediante himenotomía. La patología de himen imperforado con hematocolpos debe estar entre los posibles planteamientos sindrómicos de aquellas pacientes con cuadros similares; puede diagnosticarse en la Atención Primaria de Salud a partir de una detallada anamnesis y exploración física, aunque la comprobación requiere ecografía (AU).

ABSTRACT The defects in the channeling of the himeneal membrane cause obstruction in the female genital tract. As consequence hematocolpos appears, resulting from the accumulation and retention of cervicovaginal secretions -blood in the uterus and vagina-, due to the impossibility of its evacuation because of the presence of an imperforate hymen. Clinically, abdominal mass appears associated to congenital vaginal malformations. We presented the case of teenager aged 13 years that referred urine retention, dysuria, pain, had a mass in the hypogastrium, and absence of menarche in spite of a Tanner III pubertal development. An ultrasound showed blood in the uterus due to hymeneal imperforation solved through hymenotomy. The pathology of imperforate hymen with hematocolpos should be among the possible syndrome considerations in those patients with the same characteristics; it can be diagnosed in the primary health care from anamnesis and physical exploration, although the verification requires an ultrasound (AU).

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)

Oeis complex (omphalocele-exstrophy-imperforate anus-spinal defects): a confusing syndrome. case report

ABSTRACT Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed. Case presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated. Conclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre- and postnatal diagnosis, genetic counseling and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.

RESUMEN Introducción. El complejo OEIS es un conjunto de defectos polimalformativos con baja incidencia y prevalencia mundial que suele estar asociado a causas epigenéticas y genéticas que ocasionan alteración al final de la blastogénesis, dando como resultado la asociación de cuatro malformaciones clásicas: onfalocele, extrofia vesical, ano imperforado y lesiones de la médula espinal. En ocasiones también se presenta espina bffida, diástasis de la sínfisis púbica y anormalidades en las extremidades. Presentación del caso. Paciente femenina de 7 meses de edad (al momento de la elaboración del presente reporte), procedente de un área rural colombiana, producto de una tercera gestación con alto riesgo obstétrico y diagnosticada prenatalmente con un defecto en el plegamiento caudal de la pared abdominal y un lipomeningocele. Durante el nacimiento se evidenció extrofia vesical, ano imperforado y disrafismo espinal, lo que permitió plantear el diagnóstico de complejo OEIS e iniciar manejo interdisciplinario pertinente. Conclusiones. El complejo OEIS es una poli-malformación fetal con signos y anomalías características, en donde los conocimientos sobre la etiopatogenia, el diagnóstico pre y postnatal, el asesoramiento genético y las propuestas terapéuticas son primordiales para favorecer el manejo precoz de las diferentes comorbilidades, aliviar la sintomatologia aguda, reducir múltiples comorbilidades y mejorar la calidad de vida del paciente.

Himen imperforado y hematocolpos por retención urinaria y dolor abdominal: reporte de un caso clínico / Imperforate hymen and hematocolpos as a cause of urinary retention and abdominal pain: A clinical case report

Resumen ANTECEDENTES: El himen imperforado es una malformación congénita del aparato genital femenino, con incidencia de 0.1%. El desarrollo del himen ocurre con la proliferación de los senos bulbo-vaginales y estos se perforan de forma normal antes o después del nacimiento. Al llegar a la adolescencia, la mayoría de los casos suelen manifestar: amenorrea, dolor pélvico, retención urinaria, o los tres. CASO CLÍNICO: Paciente de 12 años, llevada al servicio de Urgencias debido a dolor abdominal intenso y retención urinaria. Primero se estableció el diagnóstico de quiste gigante de ovario; sin embargo, la laparotomía exploradora no evidenció alteraciones ováricas. Mediante estudios de imagen y la exploración física detallada se estableció el diagnóstico de hematocolpos e himen imperforado. Se decidió efectuar la himenoplastia, con lo que se resolvió el cuadro clínico. CONCLUSIONES: El himen imperforado puede causar retención urinaria y dolor abdominal; por tanto, la manifestación de estos síntomas debe considerarse en el diagnóstico diferencial de pacientes adolescentes.

Abstract BACKGROUND: Imperforate hymen is an uncommon congenital malformation of the genital tract, its incidence is 0.1%. Physiologically the development of the hymen occurs for the proliferation of the sinovaginal bulbs, they usually will perforate before or after born. The majority of cases will show clinical manifestations when patient reach puberty, the most common are pelvic pain, amenorrhea and urinary retention. CLINICAL CASE: This is a 12-year-old adolescent patient who went to the emergency department for severe abdominal pain and urinary retention. Initially, the patient was diagnosed with a giant ovarian cyst and a laparotomy was performed without finding ovarian pathology. However, through imaging studies and a more detailed physical examination, the diagnosis of hematocolpos and imperforate hymen was reached. The patient was subsequently subjected to hymenoplasty, which resolved the condition. CONCLUSIONS: The presence of imperforate hymen can cause urinary retention and abdominal pain. It should be suspected in adolescent patients.

Síndrome de Townes-Brocks en Barranquilla, Colombia: Reporte de caso y estado del arte / Townes-Brocks Syndrome in Barranquilla, Colombia: Case report and state of the art

RESUMEN El síndrome de Townes-Brocks, descrito por primera vez en 1972, se caracteriza por tres anomalías congénitas mayores: malformación anorrectal, orejas displásicas y malformaciones del pulgar. Es un trastorno genético raro con herencia autosómica dominante y una prevalencia estimada de 1/250 0000, registrándose aproximadamente 164 casos en la literatura. En Colombia, solo un caso ha sido registrado en un evento científico, y este sería el primer caso publicado en una revista indexada. El objetivo de nuestro artículo es reportar el fenotipo del paciente y el estado actual del arte del síndrome de Townes-Brocks.

ABSTRACT Townes-Brocks syndrome, described in 1972, is characterized by three major congenital anomalies: anorectal malformation, dysplastic ears and thumb anomalies. It is a rare genetic disorder with autosomal dominant inheritance and an estimated prevalence of 1/250.0000. Approximately 164 cases have been reported in the literature. In Colombia, only one case was previously reported in a scientific event. Our case report is the first published in an indexed journal. Our article aims to report the patient's phenotype and the state of art of Townes-Brocks syndrome.

First insights into the functional role of vasicentric tracheids and parenchyma in eucalyptus species with solitary vessels: do they contribute to xylem efficiency or safety?

The relationship between hydraulic specific conductivity (ks) and vulnerability to cavitation (VC) with size and number of vessels has been studied in many angiosperms. However, few of the studies link other cell types (vasicentric tracheids (VT), fibre-tracheids, parenchyma) with these hydraulic functions. Eucalyptus is one of the most important genera in forestry worldwide. It exhibits a complex wood anatomy, with solitary vessels surrounded by VT and parenchyma, which could serve as a good model to investigate the functional role of the different cell types in xylem functioning. Wood anatomy (several traits of vessels, VT, fibres and parenchyma) in conjunction with maximum ks and VC was studied in adult trees of commercial species with medium-to-high wood density (Eucalyptus globulus Labill., Eucalyptus viminalis Labill. and Eucalyptus camaldulensis Dehnh.). Traits of cells accompanying vessels presented correlations with functional variables suggesting that they contribute to both increasing connectivity between adjacent vessels-and, therefore, to xylem conduction efficiency-and decreasing the probability of embolism propagation into the tissue, i.e., xylem safety. All three species presented moderate-to-high resistance to cavitation (mean P50 values = -2.4 to -4.2 MPa) with no general trade-off between efficiency and safety at the interspecific level. The results in these species do not support some well-established hypotheses of the functional meaning of wood anatomy.

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.

De las bases embriológicas a la clínica en el síndrome de Prune Belly / From the embryological basis to the clinical Prune Belly syndrome

El síndrome de Prune Belly es un trastorno congénito, que obedece según lo reportado actualmente a una base genética. Está caracterizado por la siguiente triada: deficiencia en grados variables de la musculatura abdominal, criptorquidia bilateral y anomalías del tracto urinario. Se identifican dos variantes del síndrome, una mortal y otra compatible con la vida(AU)

Prune Belly syndrome is a congenital disorder that is due, as currently reported, to genetic basis. It is characterized by the following triad: deficiency of abdominal muscles in varying degrees, bilateral cryptorchidism and urinary tract anomalies. Two variants of the syndrome are identified, a deadly one and another compatible with life(AU)

Effect of folic acid in a modified experimental model of anorectal malformations adriamycin-induced in rats

PURPOSE:To determine the effect of a single dose of adriamycin (ADR) to induce anorectal malformations (ARMs) and determine the effect of folic acid (FA) in this model.METHODS:Ten female Wistar rats were divided randomly in two groups. Group A - ADR; Group B - FA+ADR. Dams from group B received daily, since two weeks before the pregnancy to the end of pregnancy, FA (50mg/kg) by gavage. Dams from both groups received ADR (6mk/kg) by intraperitoneal injection on gestational day (GD) 8. Their fetuses were harvested by cesarean section on GD21 and were examined looking for ARMs. The thickness of anal stratified squamous epithelium (ASSE) and intestinal epithelium (IE) were analyzed. p≤0.05*.RESULTS:81 fetuses were harvested. The number of fetuses; number of ARMs; mean (∆%) (± SD) were determined to be, respectively: ADR - 41[29;65%(±37%)] versus FA+ADR - 40[04;16%(±36%)] (p=0.05). AMRs were significantly lower in FA+ADR group than in ADR group (p=0.05). The thickness (µm) of ASSE (± SD) and IE (± SD) were measured, respectively: ADR - [25.98(±0.74) and 19.48(±1.68)] versus FA+ADR - [24.74(±0.91) and 24.80(±0.81)] (p<0.005). The thickness of IE was significantly enlarged when FA was given (p<0.005).CONCLUSIONS:Single dose of adriamycin on D8 was able to induce anorectal malformations. Folic acid reduces the number and enlarged the IE of ARMs ADR-induced.(AU)

Effect of folic acid in a modified experimental model of anorectal malformations adriamycin-induced in rats

PURPOSE: To determine the effect of a single dose of adriamycin (ADR) to induce anorectal malformations (ARMs) and determine the effect of folic acid (FA) in this model. METHODS: Ten female Wistar rats were divided randomly in two groups. Group A - ADR; Group B - FA+ADR. Dams from group B received daily, since two weeks before the pregnancy to the end of pregnancy, FA (50mg/kg) by gavage. Dams from both groups received ADR (6mk/kg) by intraperitoneal injection on gestational day (GD) 8. Their fetuses were harvested by cesarean section on GD21 and were examined looking for ARMs. The thickness of anal stratified squamous epithelium (ASSE) and intestinal epithelium (IE) were analyzed. p≤0.05*. RESULTS: 81 fetuses were harvested. The number of fetuses; number of ARMs; mean (∆%) (± SD) were determined to be, respectively: ADR - 41[29;65%(±37%)] versus FA+ADR - 40[04;16%(±36%)] (p=0.05). AMRs were significantly lower in FA+ADR group than in ADR group (p=0.05). The thickness (µm) of ASSE (± SD) and IE (± SD) were measured, respectively: ADR - [25.98(±0.74) and 19.48(±1.68)] versus FA+ADR - [24.74(±0.91) and 24.80(±0.81)] (p<0.005). The thickness of IE was significantly enlarged when FA was given (p<0.005). CONCLUSIONS: Single dose of adriamycin on D8 was able to induce anorectal malformations. Folic acid reduces the number and enlarged the IE of ARMs ADR-induced.

Is it possible folic acid reduce anorectal malformations ethylenethiourea induced in rats?

To investigate the effect of folic acid (FA) in an experimental model of anorectal malformations (ARMs) ethylenethiourea (ETU) induced. Eight female Wistar rats were divided randomly in two groups. Group A - ETU; Group B - FA+ETU; Dams from group B received daily, since two weeks before pregnancy to the end of pregnancy, FA (50mg/kg) by gavage. Dams from groups A and B, received 1% ETU (125mk/kg) by gavage on gestational day (GD) 11. Their fetuses were harvested by cesarean section on GD21 and were examined looking for ARMs. The thickness of anal stratified squamous epithelium (ASSE) and intestinal epithelium (IE) were analyzed. p<0.05*. One hundred and one embryos were harvested. The number of embryos; number of ARMs; mean statistical % (± SD) were determined to be, respectively: ETU - 49 [30;65% (±24%)] versus FA+ETU - 52 [1;02% (±3%)] (p=0.025). AMRs were significantly lower in FA+ETU group than in ETU group (p=0.025). The thickness (µm) of ASSE (± SD) and IE (± SD) were measured, respectively: ETU - [27.75 (±0.56) and 18.88 (±0.93)] versus FA+ETU - [28.88 (±0.61) and 21.11 (±0.16)] (p=0.001). The thickness of IE was significantly enlarged when FA was given (p=0.001). Folic acid reduces the number and enlarged the IE of ARMs ETU-induced.(AU)

Is it possible folic acid reduce anorectal malformations ethylenethiourea induced in rats?

PURPOSE: To investigate the effect of folic acid (FA) in an experimental model of anorectal malformations (ARMs) ethylenethiourea (ETU) induced.METHODS:Eight female Wistar rats were divided randomly in two groups. Group A - ETU; Group B - FA+ETU; Dams from group B received daily, since two weeks before pregnancy to the end of pregnancy, FA (50mg/kg) by gavage. Dams from groups A and B, received 1% ETU (125mk/kg) by gavage on gestational day (GD) 11. Their fetuses were harvested by cesarean section on GD21 and were examined looking for ARMs. The thickness of anal stratified squamous epithelium (ASSE) and intestinal epithelium (IE) were analyzed. p<0.05*.RESULTS:One hundred and one embryos were harvested. The number of embryos; number of ARMs; mean statistical % (± SD) were determined to be, respectively: ETU - 49 [30;65% (±24%)] versus FA+ETU - 52 [1;02% (±3%)] (p=0.025). AMRs were significantly lower in FA+ETU group than in ETU group (p=0.025). The thickness (µm) of ASSE (± SD) and IE (± SD) were measured, respectively: ETU - [27.75 (±0.56) and 18.88 (±0.93)] versus FA+ETU - [28.88 (±0.61) and 21.11 (±0.16)] (p=0.001). The thickness of IE was significantly enlarged when FA was given (p=0.001).CONCLUSION:Folic acid reduces the number and enlarged the IE of ARMs ETU-induced.

Dolor abdominal como síntoma de himen imperforado / Abdominal pain as a symptom of imperforate hymen

El himen imperforado es una anomalía congénita del desarrollo genital femenino. A pesar de ser la anomalía obstructiva más frecuente, presenta una incidencia estimada del 0,1% de las recién nacidas. Su diagnóstico es principalmente clínico, habitualmente ante la presencia de dolor abdominal cíclico en una adolescente que no ha presentado la menarquia. Presentamos el caso de una paciente de 12 años de edad que acudió al Servicio de Urgencias por dolor abdominal intenso, acompañado de alteración del hábito intestinal de dos días de evolución. Tras una detallada anamnesis y exploración física, es diagnosticada de himen imperforado con el apoyo de las pruebas complementarias. El cuadro clínico se resolvió tras la realización de una himenectomía.

Imperforate hymen is a congenital anomaly of female genital development. Although it is the most common obstructive anomaly has an estimated incidence of 0.1% of newborn. The diagnosis is primarily clinical, usually in the presence of cyclic abdominal pain in an adolescent who has not submitted menarche. We report the case of a 12 years old woman came to the emergency department by abdominal intense pain accompanied by altered bowel habit in two days. After a detailed history and physical examination, was diagnosed with imperforate hymen with the support of additional tests. The clinical symptoms resolved after performing a hymenectomy.

The phylogenetic position of poroid Hymenochaetaceae (Hymenochaetales, Basidiomycota) from Patagonia, Argentina.

Six poroid Hymenochaetaceae from Patagonia, Argentina, were studied phylogenetically with nuc rDNA internal transcribed spacer (ITS) and partial 28S rDNA sequences, together with morphological data. Two new genera and a new species are introduced as well as two new combinations proposed. Arambarria destruens gen. et sp. nov. is proposed for a taxon fruiting on fallen or standing, dead Diostea juncea and Lomatia hirsuta and previously recorded erroneously as Inocutis jamaicensis; it is distinguished by annual, effused to effused-reflexed basidiomes forming pilei, a monomitic hyphal system, thick-walled and yellowish basidiospores (brownish chestnut in potassium hydroxide solution), lack of a granular core in the context and lack of setoid elements. Nothophellinus gen. nov. is proposed to accommodate Phellinus andinopatagonicus, the main white wood-rotting polypore of standing Nothofagus pumilio and also an important wood-decayer of other Nothofagus species from southern Argentina and Chile. It is morphologically similar to Phellopilus (type species P. nigrolimitatus) but differs by lacking setae. The new combinations Pseudoinonotus crustosus and Phellinopsis andina are proposed for Inonotus crustosus and Phellinus andinus, respectively. Phellinus livescens, which decays the sapwood of several standing Nothofagus species, is closely related to Phellinus uncisetus, a Neotropical species related to Fomitiporia; for the time being P. livescens is retained in Phellinus sensu lato. An unidentified taxon responsible for a white heart-rot in living Austrocedrus chilensis grouped with Phellinus caryophyllii and Fulvifomes inermis, but its generic affinities remain ambiguous. Transmission electron microscopy studies confirm this unidentified taxon has an imperforate parenthesome, which is typical of the Hymenochaetaceae.

A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report / Caso raro de hamartoma perineal associado a criptorquidia e ânus imperfurado: relato de caso

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.

Himen imperforado como causa de dolor abdominal en la adolescencia: A propósito de un caso / Imperforate hymen as a cause of abdominal pain in adolescents: a case report

El himen imperforado es una anomalía congénita del desarrollo genital femenino. Es una patología poco frecuente, con una incidencia estimada del 0,1% de los recién nacidos del sexo femenino. En muchas ocasiones, el diagnóstico pasa inadvertido hasta la pubertad y debuta con dolor abdominal cíclico en adolescentes que no han presentado la menarquia. El diagnóstico se basa en la anamnesis y la exploración física, aunque las pruebas complementarias, en especial la ecografía, permiten la comprobación del diagnóstico clínico y la exclusión de otras malformaciones genitales. Se presenta el caso clínico de una paciente de 13 años que fue diagnosticada tras consultar en varias ocasiones por dolor abdominal recurrente.

The imperforate hymen is a congenital anomaly of the female genital development. This is a rare pathology with an estimated incidence of 0.1% in female newborns. In many cases, the diagnosis goes unnoticed until puberty, debuting with cyclical abdominal pain in adolescents who have not submitted menarche. Diagnosis is based on history and physical examination, although additional tests, especially the ultrasound that allows to confrm clinical diagnosis and to exclude other genital malformations. We report a case of a 13-year-old that was diagnosed after consulting several times for recurrent abdominal pain.