Construction of continuous nursing program for children with congenital imperforate anus based on 5W1H analysis / 中国实用护理杂志

Objective:Based on the framework of 5W1H analysis, to establish the continuous nursing project by delphi expert consultation method for children with congenital imperforate anus after discharge.Methods:This study is observational. Through the literature review, qualitative interview and group discussion to establish the expert correspondence questionnaire from April 2021 to March 2022. Delphi consultation was applied to experts for two rounds of expert consultation, to evaluate the initiative, authority and coordination of expert opinions.Results:Two rounds of expert consultation were carried out with 20 experts.The response rates of two rounds of expert questionnaires were 19/20 and 20/20 respectively, the expert authority coefficients were 0.873 and 0.893 respectively, and the Kendall′s coefficients were 0.311 and 0.405 respectively. The coordination of expert opinions was statistically significant ( P<0.05); After two rounds of expert consultation, it was finally determined that the continuing care plan for children with anal atresia included three first-level indicators (composition and responsibilities of continuing care personnel, implementation methods of continuing care, and implementation content of continuing care), 23 second-level indicators, and 46 third-level indicators. Conclusions:This study have high enthusiasm and authority of experts, and concentrated expert opinions on various indicators. The results are reliable, scientific and comprehensive, which will provide a basis for clinical medical staff to carry out the continuous nursing of children with congenital imperforate anus.

Townes-Brocks syndrome caused by de novo mutation in spalt-like transcription factor 1 gene: a case report and literature review / 中华围产医学杂志

Objective:To summarize the clinical features and gene variations in children with Townes-Brocks syndrome (TBS).Methods:The clinical data of a female infant diagnosed with TBS caused by human spalt-like transcription factor 1 ( SALL1) gene mutation in Gansu Maternal and Child Health Hospital in May 2022 were analyzed retrospectively. Relevant articles up to July 2022 were retrieved from several databases including CNKI, VIP, Wanfang, Chinese Medical Journal Network and PubMed with the terms of " SALL1 gene" and "Townes-Brocks syndrome". Patients diagnosed with TBS caused by SALL1 gene mutation were retrieved and the clinical phenotype-genotype correlations in patients with TBS caused by frameshift mutation in SALL1 gene were analyzed and summarized. Descriptive statistical analysis was applied. Results:(1) Clinical data: The index patient was a 40-day-old girl exhibiting major clinical manifestations of polycystic kidney dysplasia, congenital external ear deformity, preaxial polydactyly and recto-perineal fistula. Whole exome sequencing and Sanger sequencing revealed a heterozygous variation of c.420delC (p.S141fs*42) in the SALL1 gene, while the same gene was found to be wild type in her parents and sister. The variant was predicted to be pathogenic (PVS1+PS2+PM2). (2) Literature review retrieved 161 cases of TBS, of which 71 were attributable to a frameshift mutation in SALL1 gene. Clinical phenotypes of the 71 cases and the index case were summarized. TBS was mainly characterized by external ear, hand and anal deformities, sometimes accompanied by hearing loss, abnormal kidney development and foot deformity. A small number of affected cases presented with rare clinical phenotypes such as abnormal eyes, hypothyroidism and abnormal development. At present, the human gene mutation database records 110 variations in the SALL1 gene, with a majority located in exon 2. The most common mutation type was frameshift variation, accounting for 52%, followed by missense variation and nonsense variation. Conclusion:TBS should be considered in children with ear, hand and anal malformations, accompanied by renal dysfunction and hearing loss, and genetic testing is recommended for timely diagnosis.

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.

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.

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.

Association between abnormalities of the distal rectal pouch and postoperative bowel function in high or intermediate anal atresia / 中华普通外科杂志

Objective To evaluate wall histological abnormalities 2 to 3 cm to the end in high or intermediate anal atresia in order to identify features that explain postoperative bowel dysfunctions.Methods Sixty anal atresia patients treated in the Capital Pediatric Institution between January 2008 and December 2012 were recruited in our study.36 patients were resected the terminal anal segment (3 cm).Compared with those 24 cases who were not.Resected samples were fixed for HE and immuno-histochemical stainings.Clinical data including sacral ratio (SR),age at operation,gender,bowel function were evaluated.Results There was no significant difference in patients' SR value,gender and age at operation between resected group and control group.The median follow-up period was 4.5 years.The rates of voluntary bowel movement,soiling (grade 1,2,3) were similar in both groups,however,the rates of severe constipation in resection group was significantly lower that in control group (3 ％ vs.21％,P ＜ 0.05) In the bowel wall of distal 2 cm anrectal canal,the connective tissue was found to be irregular and abnormally represented.Muscle coat was abnormal in all cases,showing the dysplasia circular and longitudinal layers.The number of enteric nervous system was significant fewer in distal 2cm anrectal canal than that in distal 3 cm(1.6 ±0.9 vs.5.6 ±1.8,t=11.715,P＜0.01).Conclusions Resection of terminal 3 cm at least of the atresia anal canal benefits postoperative bowel defecation function.

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.

The value of prenatal ultrasonography in the diagnosis of congenital anal atresia / 中国基层医药

Objective To evaluate the clinical value of prenatal ultrasound in the diagnosis of congenital anal atresia.Methods A retrospective analysis was studied from January 2013 to December 2015 which analyzed abnormal sonographic features by prenatal ultrasound screening in 13 cases of anal atresia.Results 13 cases of anal atresia were confirmed after abortion,miscarriage or birth which were not probed target ring signby prenatal ultrasound screening.That included 2 simple atresia cases and 11 cases associated with other malformations and abnormalities including 8 cases with bowel dilatation and 3 cases with intestine visible echogenic meconium. Conclusion Prenatal ultrasound screening for fetal congenital anal atresia can be detected.But for lacking of specific diagnostic standard,the detection rate of anal atresia remains very low.

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.

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.

Clinical Significance of GDNF/GFRα1/RET Expression in Distal Rectum with Congenital Anorectal Malformation / 天津医药

Objective To evaluate the significance and expression of the GDNF/GFRα1/RET genes in distal rectum with Congenital Anorectal Malformations(ARMs) Methods Specimens were collected from resected colon which is 3 cm away to the anus and the distal of rectum in 12 ARMs patients. Haematoxylin and Eosin (HE) staining, immunohistochemical (IHC) staining and reverse transcription PCR (RT-PCR) were used to test RET, GDNF and GFRα1 expression in the differ-ent site of samples with ARMs. Results Expression of ganglia and RET, GDNF and GFRα1 were all negative in distal rec-tum in 12 ARMs patients. Ganglionic cells were found in tissues 3 cm away from the anus where RET, GDNF and GFRα1 expression were also positive in those ARMs patients. Expression of RET, GDNF and GFRα1 were strong positive in middle and low imperforate anus indicated by brown color and week positive in high imperforate anus indicated by yellow color. One case of faeces contamination and one case of loose motion without anal incontinence were found in post-op follow up of high ARMs patients. By contrast, one case of rectal mucosa prolapse and one case of occasional faeces contamination which recov-ered with hip bath were found in post op follow up in middle or low ARMs. Conclusion The unsatisfactory anorectal func-tion is possibly related to the decrease or lost of neurotrophic factors (GDNF/GFRα1/RET) and ganglia in the myenteric plex-uses post plastic surgery in ARMs patients.

Peutz-Jeguers syndrome: case report and literature review

The Peutz-Jeghers syndrome is a rare disease characterized by the presence of mucocutaneous melanic pigmentation of the lips, oral mucosa and perioral region, associated with hamartomatous intestinal polyposis. Malignization of the polyps and association with other types of cancer are also usual. Case report: 32-year-old patient, female, white, who had an intestinal occlusion by invagination, discovered during laparotomy, when an intestinal tumor was found as well. The material was sent to anotomopathological analysis. However, the results did not allow to identify the tumor nature due to tumor necrosis. Then, the patient was sent to our service because of the intestinal polyps, and during the interview, the characteristic melanic pigmentation was observed. Videocolonoscopy was performed, with excision of two rectal polyps, identified in the anatomopathological exam as hamartomatous polyps. The patient reported anal imperforation at birth, just like her brother. He had unexplained death. The authors found no correlation of the Peutz-Jeghers syndrome with anal imperforation in the literature and asked the patient if her brother also had the syndrome. (AU)

A síndrome de Peutz-Jeghers é uma doença rara que tem como características a pigmentação melânica mucocutânea de lábios, regiões perioral e de mucosa bucal associada à polipose hamartomatosa do trato intestinal, com possibilidade de malignização dos pólipos digestivos e associação com outros tipos de câncer. Relato de Caso: Paciente de 32 anos, de gênero feminino, branca, apresentou um quadro de oclusão intestinal por uma invaginação, evidenciada durante laparotomia exploradora, constatando-se, ainda, a presença de uma tumoração intestinal. O material foi encaminhado para exame anatomopatológico; porém, foi inconclusivo para a natureza da tumoração em decorrência da necrose. Em função do pólipo intestinal, a paciente foi encaminhada ao nosso serviço, quando percebemos a presença de pigmentação melânica característica. Realizamos videocolonoscopia com achado de dois pólipos de reto cujo resultado do exame anatomopatológico foi de pólipo hamartomatoso. A paciente relatou ainda ter nascido com imperfuração anal e possuir irmão que também nascera com a mesma imperfuração e que evoluiu para óbito não esclarecido. Não encontramos relato na literatura de associação da síndrome de Peutz-Jeghers com imperfuração anal e interrogamos se o irmão teria também a síndrome. (AU)

Imperfuração anal associada à agenesia parcial do sacro e lipoma pré-sacral: síndrome de currarino / Imperforate anus associated with partial sacral agenesis and presacral lipoma: currarino syndrome

OBJETIVO: Relatar o caso de uma criança com síndrome de Currarino diagnosticada após avaliação por episódios recorrentes de infecção urinária. DESCRIÇÃO DE CASO: Menina branca de dois anos, única filha de pais hígidos e sem história familiar de defeitos congênitos. A criança nasceu com imperfuração anal e com fístula retovestibular diagnosticadas no primeiro dia de vida. Por volta dos sete meses, começou a apresentar episódios recorrentes de infecção urinária, estabelecendo-se o diagnóstico de bexiga neurogênica. Na mesma ocasião, foi constatada a presença de agenesia parcial do sacro. A avaliação pela tomografia computadorizada e ressonância nuclear magnética de coluna identificou presença de fístula coincidente com a fosseta da transição lombo-sacral, observada ao exame físico; amputação da porção inferior da medula, com diminuição do número de raízes nervosas da cauda equina e massa pré-sacral de aspecto lipomatoso. Esta foi confirmada durante a cirurgia de correção do ânus imperfurado. A criança não apresentava outras dismorfias e a avaliação radiológica dos pais não identificou anormalidades sacrais. COMENTÁRIOS: A síndrome de Currarino é uma doença genética autossômica, dominante e rara caracterizada pela tríade formada por atresia anal, agenesia parcial do sacro e tumoração pré-sacral. Inclui teratomas, meningoceles, cistos entéricos e lipomas, como observado em nossa paciente. Crianças apresentando anormalidades anorretais deveriam ser sempre cuidadosamente avaliadas quanto à presença da síndrome de Currarino. A agenesia parcial do sacro é um forte indicativo da doença.

OBJECTIVE: To report a patient with Currarino syndrome diagnosed after evaluation for recurrent urinary infections. CASE DESCRIPTION: This is a Caucasian two-year-old girl, the only daughter of healthy unrelated parents with no family history of congenital defects. The patient was born with imperforate anus and recto-vestibular fistula diagnosed in the first day after birth. At seven months of age, she started to present episodes of recurrent urinary infections and received a diagnosis of neurogenic bladder. At the same time, partial sacral agenesis was noted. Magnetic resonance imaging and computed tomography scan of the spine identified the presence of a fistula coincident with the lombo-sacral dimple described at clinical examination, amputation of the lower portion of the spinal cord with reduced number of nervous roots of the caudus equinus and lipomatous presacral mass. The patient did not present other dysmorphia. Parental radiologic evaluation did not identify sacral abnormalities. COMMENTS: Currarino syndrome is a rare autosomal dominant genetic disease characterized by the triad composed of anal atresia, partial sacral agenesis and presacral tumor. It includes, among others, teratomas, meningoceles, enteric cysts and lipomas, as observed in our patient. Children presenting anorectal abnormalities should be evaluated regarding the presence of Currarino syndrome. The partial sacral agenesis is a major sign of this disease.

Study of the density of ganglion cells in the terminal bowel of rats with anorectal malformations

PURPOSE: To study the ganglion cells (GC) in the terminal bowel of rats with ethylenethiourea (ETU) induced anorectal malformations (ARM). METHODS: The animals were divided into three groups: Group A - normal fetuses from pregnant rats that were not administered ETU; Group B - fetuses without ARM born from pregnant rats that were administered ETU and Group C - fetuses with ARM born from pregnant rats that received ETU. ETU was administered on the 11th day of pregnancy at the dose of 125 mg/kg body weight by gastric gavage. The rats had cesarean section on the 21st day of gestation. The fetuses’ terminal bowel tissue was analyzed by immunohistochemistry to demonstrate ganglion cells. RESULTS: Statistically significant differences were found between groups A, B and C regarding ganglion cell densities. Group A had the highest cell density, followed by Group B and the lowest density was found in Group C. CONCLUSION: Ganglion cell densities are decreased in the terminal bowel of rats with ARM.

OBJETIVO: Estudar as células ganglionares (CG) no intestino terminal de ratos portadores de anomalia anorretal (AAR) induzida pela etilenotiouréia (ETU). MÉTODOS: Os animais foram distribuídos em três grupos: Grupo A - fetos normais, obtidos de ratas grávidas às quais não foi administrada ETU; Grupo B - fetos não portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU e Grupo C - fetos portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU. A ETU foi administrada no décimo primeiro dia de gestação na dose de 125 mg/Kg, por gavagem. As ratas foram submetidas à laparotomia e histerotomia para retirada dos fetos no vigésimo primeiro dia de gestação. O intestino terminal dos fetos foi retirado e analisado por imunohistoquímica para pesquisa de CG. RESULTADOS: Foram encontradas diferenças estatisticamente significantes entre os grupos A, B e C quanto à densidade de CG. O grupo A apresentou a maior densidade, seguida pelo grupo B, e a menor densidade foi encontrada no Grupo C. CONCLUSÃO: Existe uma menor densidade de CG no intestino terminal de ratos portadores de AAR.

Comparison of Surface and Saddle Endoanal Coil to Evaluate anal Sphincter in Infants and Young Children: Experimental Study Using Phantom and Cats

PURPOSE: We designed an inside-out-type endoanal surface and saddle coil to evaluate the anal sphincter of young children who have difficulty in controlling defecation after the correction of anorectal malformation, and compared two coils using an imaging phantom and cats. MATERIALS AND METHODS: Using two coils, T1- and T2-weighted axial and coronal images of the phantom and of the anorectal region of cats were obtained, and the results were compared in terms of changes in signal intensity and SNR according to the distance from the coil's surface. We also compared the capability of the coils to delineate the internal and external anal sphincter of cat anorectum, both of which are important in the control of defecation. RESULTS: The saddle coil was slightly superior to the surface coil in terms of SNR, but inferior in terms of the signal intensity of the region of interest of the cat's anorectum. Moreover, artifacts of low signal intensity appeared in an azimuthal direction on axial images acquired using the saddle coil and prohibited delineation of the whole of the anal sphincter. In terms of image quality, the surface coil was therefore superior to the saddle coil. CONCLUSION: Our findings suggest that among inside-out-type endoanal coils, the surface coil may be superior to the saddle coil in MR imaging to evaluate the anal sphincter of young children.

The MRI study of the sphincter muscle complex in congenital anorectal malformations / 中华放射学杂志

Objective To evaluate the development of the sphincter muscle complex(SMC)and defecation function in pediatric patients with congenital anorectal malformations(ARM).Methods A total of 64 children underwent MRI,among whom 39 were patients with ARM,and the others were patients without ARM undergoing MRI because of other dieases.The dimensions of the SMC in different planes were evaluated with different sequences and coils.The relationship between the SMC development and the defecation function was investigated.Results In control group,the absolute value of SMC width was (3.63?0.22)mm,which had a high correlation with age(r=0.998,P0.05).The SMCs in intermediate ARM patients[muscle index(MI)=0.47?0.05]and low ARM patients(MI=0.49? 0.05)were well developed.The SMCs in a portion of patients with high ARM(MI=0.28?0.06)were poorly developed,when MI≤0.18,anorectal contraction pressurewas significantly lower(t=3.55, P0.18[(0.85?0.20)vs(2.24?1.02)kPa].The length of anal canal with high-pressure[(10.88?3.64)vs(20.26?4.34)mm]was shorter(t=5.18,P0.18,the anorectal angle was less than 90 degrees,and normal continent function was found in 21 of 23 cases(91%).Conclusion MRI can be employed to evaluate the development of SMC in patients with ARM,MI was an objective criteria to evaluate the development of SMC.When MI≤0.18, maldevelopment of SMC will be highly suspected.

Anterior sagittal anorectoplasty for imperforate anus with rectovestibular fistula / 中国普通外科杂志

ObjectiveTo evaluate the effects of anterior sagittal anorectoplasty(ASARP) on treating imperforate anus with rectovestibular fistula(IAFR).MethodsThe clinical data of 16 cases of IAFR treated by ASARP were analysed retrospectively.ResultsSixteen cases were followed-up for 2 months to 5 years.The anus function was assessed according to the Clinical Scoring Systems of LI Zheng.Excellent scores were obtained in 13 cases and good in 3 cases;1 patient suffered from incision infection postoperatively.ConclusionsASARP is a feasible therapy for imperforate anus with IAFR.

Neonatal intermediate and high imperforated anus treated by one-stage procedure / 中国普通外科杂志

Objective To evaluate one-stage procedure for the treatment of neonatal intermediate and high imperforated anus. Methods Clinical data of 21 neonates with intermediate or high imperforated anus undergoing one-stage surgical procedure were summarized. Results Postoperative complication included mucous overlap and soiling in 1 case, and occasional soiling in 2 cases. No postoperative constipation developed in any case. Conclusions Neonatal one-stage procedure avoids short comings often seen in staged procedures and needs no colostomy, promoting hyperplasia and prolongs sphincter during early stage, preventing secondary megacolon.