Penjujukan Eksom Bagi Penyakit Jarang Jumpa, Mullerian Agenesis dan Agenesis Anotectal anomaly: Kajian Kes (Whole Exome Sequencing of a Rare Disease, Mullerian Agenesis and Anorectal Anomaly: A Case Report) / Jurnal Sains Kesihatan Malaysia

@#Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a congenital defect in the Mullerian duct that results in the absence of a uterus in women. The aetiology of this syndrome is unknown and has been considered a sporadic genetic disease. MRKH, together with anorectal anomaly, is an extremely rare condition and has only been reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula) was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit (ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3, STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them, the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27 biological processes that connected with 23 interactions, and are likely to cause MRKH syndrome in this patient.

Laparoscopically assisted anorectoplasty and the use of the bipolar device to seal the rectal urinary fistula / Anorretoplastia laparoscópica e a utilização do selamento bipolar da fistula retourinária

ABSTRACT Background: The anorectal anomalies consist in a complex group of birth defects. Laparoscopic-assisted anorectoplasty improved visualization of the rectal fistula and the ability to place the pull-through segment within the elevator muscle complex with minimal dissection. There is no consensus on how the fistula should be managed. Aim: To evaluate the laparoscopic-assisted anorectoplasty and the treatment of the rectal urinary fistula by a bipolar sealing device. Method: It was performed according to the original description by Georgeson1. Was used 10 mm infraumbilical access portal for 30º optics. The pneumoperitoneum was established with pressure 8-10 cm H2O. Two additional trocars of 5 mm were placed on the right and left of the umbilicus. The dissection started on peritoneal reflection using Ligasure(r). With the reduction in the diameter of the distal rectum was identified the fistula to the urinary tract. The location of the new anus was defined by the location of the external anal sphincter muscle complex, using electro muscle stimulator externally. Finally, it was made an anastomosis between the rectum and the new location of the anus. A Foley urethral probe was left for seven days. Results: Seven males were operated, six with rectoprostatic and one with rectovesical fistula. The follow-up period ranged from one to four years. The last two patients operated underwent bipolar sealing of the fistula between the rectum and urethra without sutures or surgical ligation. No evidence of urethral leaks was identified. Conclusion: There are benefits of the laparoscopic-assisted anorectoplasty for the treatment of anorectal anomaly. The use of a bipolar energy source that seals the rectal urinary fistula has provided a significant decrease in the operating time and made the procedure be more elegant.

RESUMO Racional: As anomalias anorretais consistem de um grupo complexo de defeitos congênitos. A anorretoplastia laparoscópica permite melhor visualização da fístula retourinária e propicia o posicionamento do reto abaixado dentro do complexo muscular do elevador do ânus com mínima dissecção. Não há consenso na literatura sobre o melhor tratamento dessa fístula. Objetivo: Avaliar a anorretoplastia laparoscópica e o selamento bipolar da fístula retourinária. Método: Ela foi realizada de acordo com a descrição original de Georgeson1. Utilizou-se o acesso infraumbilical com portal de 10 mm para a ótica de 30º. O pneumoperitônio foi estabelecido com pressão de 8-10 cm de H2O. Dois trocárteres adicionais de 5 mm foram colocados à direita e à esquerda da cicatriz umbilical. A dissecção foi iniciada na reflexão peritoneal usando Ligasure(r). Com a redução do calibre do reto distalmente, foi identificada a fístula para a o trato urinário. O local do novo ânus foi definido por meio da localização do complexo muscular do esfíncter anal externo, utilizando-se estimulador eletro muscular externamente. Por fim, foi confeccionada uma anastomose entre o reto e o novo local do ânus. Uma sonda uretral de Foley foi deixada durante sete dias. Resultados: Sete meninos foram operados, seis com fístula retoprostática e um retovesical. O período de seguimento variou de um a quatro anos. Os dois últimos pacientes operados foram submetidos ao selamento bipolar da fístula entre o reto e a uretra, sem suturas ou ligadura cirúrgica com pontos. No seguimento em longo prazo não houve evidências de fístulas urinárias. Conclusão: Há benefícios da anorretoplastia laparoscópica para o tratamento de anomalia anorretal. O uso de uma fonte de energia bipolar que promova o selamento da fístula retourinária propiciou redução significativa do tempo cirúrgico e tornou o procedimento mais elegante.

Alveolar Capillary Dysplasia With Anorectal Anomaly.

Alveolar capillary dysplasia (ACD) is an uncommon cause of irreversible persistent pulmonary hypertension in full-term newborn. In ACD there is a failure of formation of air - blood barrier in addition to misalignment of pulmonary veins. The etiology of the disease is still not understood. We present a case report of a full-term newborn with ACD associated with anorectal anomaly.

The Experience of the VATER Association in One Hospital

VATER association is defined as a combination of 3 or more anomalies- vertebra(V), imperforate anus (A), esophageal atresia with or without tracheoesophageal fistula (TE), renal and radial anomaly(R). We reviewed our experiences in one center to determine etiology, prevalence, clinical manifestation, other associated anomaly and prognosis. Two hundred and twenty-three cases that underwent operations for imperforate anus or esophageal atresia were analyzed retrospectively through medical records at Department of Pediatric Surgery, Asan Medical Center from June, 1989 to July, 2005. The total number of neonates who had been admitted during period of study were 46,773 and VATER association was 9 (0.019 %, 1.92 persons per 10,000 neonates). Median gestational age and birth weight were 37(+4)wk (35(+1) - 41(+4)) and 2,594 g (1,671-3,660), respectively and median age of mother was 32 years (23-38). There was no family history. Three patients were twins but their counterparts had no anomalies. Patients who have 3 anomalies were 6, 4 anomalies in two and 5 anomalies in one patient. Vertebra anomalies were detected in 7(77.7 %), imperforate anus in 8(88.9 %), esophageal atresia in 5 patients (55.6 %), renal anomaly in 6(66.7 %), and radial anomaly in 5(55.6 %), respectively. Four patients are alive, 2 patients were lost during follow up period. Three patients died due to neonatal sepsis, respiratory dysfunction and cardiac failure. VATER association did not appear to be a definite risk factor, but merely a randomized combination of 5 anomalies. The prognosis was dependent on the other associated anomalies, appropriateness of management and operation. Careful follow-up and aggressive treatmentare required for improving survival and quality of life.

A Death Resulting from Imperforate Anus in the Newborn: A Case Report / 대한법의학회지

Congenital anomalies of the anus and rectum are relatively common. Minor abnormalities occur in approximately 1 per 500 live births; major anomalies occur in 1 per 5000 live births. Among the various anomalies associated with rectal abnormalities are malformations of the urinary tract and esophagus and, less often, the small bowel. The most useful clinical classification categorized lesions by whether the rectum passes through the puborectalis muscle sling. High lesions fail to pass through this muscle complexes and low lesions traverse this muscle complex. The lesions in the spectrum covered by the term imperforate anus rarely are fatal, although some associated anomalies can be life threatening. However, in some lesions without any type of fistula may be fatal per se, unless the necessary fecal diversion is not made. Routine newborn examinations usually detect anorectal anomalies early in life. Some types of malformations are less readily detected. In newborns, failure to pass meconium within the first 24 hours of life usually prompts an examination of the perineum but delayed presentation is common in areas where access to medical care is unavailable. The authors report a male newborn who died of the high type of anorectal anomaly without fistula in fourth day of life, because the doctor did not recognize the anomaly of the newborn. We believe that the forensic examiner should make medical doctors alert by notifying them that their trivial mistakes can cause mortal results.