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BMC Pediatrics Oct 2020Preoperative diagnosis of total colonic aganglionosis is important for the rational choice of treatment. The present study aimed to evaluate the diagnostic performance...
BACKGROUND
Preoperative diagnosis of total colonic aganglionosis is important for the rational choice of treatment. The present study aimed to evaluate the diagnostic performance of radiographic signs on preoperative barium enema in patients with total colonic aganglionosis.
METHODS
Forty-four patients [41 (3-659) days] with total colonic aganglionosis, including 17 neonatal patients, who received preoperative barium enema at Beijing Children's Hospital, from January 2007 to December 2019 were included. All radiographs were retrospectively restudied by 2 pediatric radiologists to ascertain radiographic signs including rectosigmoid index, transition zone, irregular contraction, gas-filled small bowel, microcolon, question-mark-shaped colon and ileocecal valve reflux. Kappa test was performed to assess the accuracy and consistency of the radiographic signs.
RESULTS
The 2 radiologists showed slight agreement for gas-filled small bowel, microcolon and rectosigmoid index, fair agreement for transition zone and irregular contraction, and moderate agreement for question-mark-shaped colon and ileocecal valve reflux (Kappa values, 0.043, 0.075, 0.103, 0.244, 0.397, 0.458 and 0.545, respectively). In neonatal patients, the 2 radiologists showed moderate agreement for ileocecal valve reflux and substantial agreement for question-mark-shaped colon (Kappa values, 0.469 and 0.667, respectively). In non-neonatal patients, the 2 radiologists showed substantial agreement for ileocecal valve reflux (Kappa value, 0.628). In 36 patients with total colonic aganglionosis extending to the ileum, the accuracies of question-mark-shaped colon, ileocecal valve reflux and the combination of both were 47%, 53%, and 75%, respectively, in one radiologist and 53%, 50% and 72%, respectively, in the other radiologist.
CONCLUSIONS
Ileocecal valve reflux is a relatively reliable radiographic sign for diagnosing total colonic aganglionosis and could improve the diagnostic accuracy upon combination with question-mark-shaped colon.
Topics: Barium Enema; Child; Enema; Hirschsprung Disease; Humans; Infant, Newborn; Retrospective Studies
PubMed: 33126876
DOI: 10.1186/s12887-020-02403-3 -
Surgical Case Reports Mar 2020Congenital intestinal atresia develops in 1 in 1500 to 20,000 births. Colonic atresia, which accounts for 1.8-15% of intestinal atresia cases, is accompanied by other...
BACKGROUND
Congenital intestinal atresia develops in 1 in 1500 to 20,000 births. Colonic atresia, which accounts for 1.8-15% of intestinal atresia cases, is accompanied by other gastrointestinal atresias such as small intestinal atresia, gastroschisis, imperforate anus, and intestinal malformation in 47-80%. Although a report shows that patients with multiple colonic atresias are 8.9% of those with colonic atresia.
CASE PRESENTATION
A male infant did not have the first bowel movement within 36 h of birth and had abdominal distention/vomiting. Radiography showed significant dilation of the intestinal tract. A contrast enema examination at 3 days of age showed a microcolon and disruption in the descending colon. We performed an emergency decompressive loop enterostomy in the distended segment. At the age of 7 months, imaging from the stoma showed disruption of the contrast medium in the intestinal tract at the right lower abdomen, and the continuity of the intestinal tract was not clarified. Intestinal malrotation was found during the second surgery, and the enterostomy was located in the ileum proximal to Bauhin's valve. Continuity of the intestinal serosal surface was maintained. However, multiple membranous obstructions (three atresias and one stenosis) were observed in the distal segment of the bowel, which was penetrated by intraluminal advancement of a urethral catheter. Therefore, he was diagnosed with multiple colonic atresias. The intestinal tract was longitudinally incised, and membranectomy and mucosal/lateral suture were performed.
CONCLUSIONS
It is important for neonates with intestinal atresia to evaluate and prepare for distal patency of the colon before radical anastomosis. In addition, anomalies associated with colon atresia should also be assessed.
PubMed: 32232592
DOI: 10.1186/s40792-020-00822-z -
Medicine May 2020To explore the clinical features and management of post-necrotizing enterocolitis strictures.Clinical data from 158 patients with post-necrotizing enterocolitis... (Observational Study)
Observational Study
To explore the clinical features and management of post-necrotizing enterocolitis strictures.Clinical data from 158 patients with post-necrotizing enterocolitis strictures were summarized retrospectively in 4 academic pediatric surgical centers between April 2014 and January 2019. All patients were treated conservatively in the internal medicine department. All patients underwent preoperative X-ray examinations, 146 patients underwent gastrointestinal contrast studies, and 138 patients underwent rectal mucosal biopsies. All of the patients were treated surgically.Of the 158 patients, 40 of them had necrotizing enterocolitis (NEC) Bell stage Ib, 104 had Bell stage IIa, and 14 had Bell stage IIb. In these patients, the clinical signs of intestinal strictures occurred at mean of 47.8 days after NEC. In 158 patients, 146 underwent barium enema examination, 116 demonstrated intestinal strictures, and 10 demonstrated microcolon and poor development. A total of 138 patients underwent rectal mucosal biopsies, and 5 patients had Hirschsprung disease. Intraoperative exploration showed that intestinal post-NEC strictures occurred in the ileal (17.7%, 28/158) and colon (82.3%, 130/158), including ascending colon, transverse colon and descending colon, and multiple strictures were detected in 36.1% (57/158) patients. Surgical resection of stricture segments in the intestine and primary end-to-end anastomosis were performed in 142 patients, and the remaining 16 patients underwent staged surgeries. In the 146 patients with complete follow-up data, 9 had postoperative adhesions: 4 of them received conservative treatment, and the others underwent a second operation. Fifteen patients were hospitalized 1 to 3 times for malnutrition and dehydration due to repeated diarrhea; these patients eventually recovered and were discharged smoothly. All the other patients had uneventful recoveries without stricture recurrence.Post-NEC strictures mostly occurred in the colon, and there were some cases of multiple strictures. A gastrointestinal contrast study was the preferred method of examination. Preoperative rectal mucosal biopsy resulted in a diagnosis of Hirschsprung disease, and then a reasonable treatment protocol was chosen. Surgical resection of stricture segments in the intestine and primary end-to-end anastomosis achieved good therapeutic effects with favorable prognoses in these patients.
Topics: Constriction, Pathologic; Enterocolitis, Necrotizing; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Retrospective Studies; Trauma Severity Indices
PubMed: 32384517
DOI: 10.1097/MD.0000000000020209 -
Journal of Rare Diseases (Berlin,... 2023The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts,...
OBJECTIVES/AIMS
The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts, ranging from megacystis to Prune Belly syndrome. We aimed to apply a bespoke virtual genetic panel and describe novel variants associated with this condition using whole genome sequencing data within the Genomics England 100,000 Genomes Project.
METHODS
We screened the Genomics England 100,000 Genomes Project rare diseases database for patients with VM-related phenotypes. These patients were screened for sequence variants and copy number variants (CNV) in , , , , , , , and by analysing whole genome sequencing data. The identified variants were analysed using variant effect predictor online tool, and any possible segregation in other family members and novel missense mutations was modelled using in silico tools. The VM cohort was also used to perform a genome-wide variant burden test in order to identify confirm gene associations in this cohort.
RESULTS
We identified 76 patients with phenotypes consistent with a diagnosis of VM. The range of presentations included megacystis/microcolon hypoperistalsis syndrome, Prune Belly syndrome and chronic intestinal pseudo-obstruction. Of the patients in whom we identified heterozygous variants, 7 had likely pathogenic variants including 1 novel likely pathogenic allele. There were 4 patients in whom we identified a heterozygous variant of uncertain significance which leads to a frameshift and a predicted protein elongation. We identified one family in whom we found a heterozygous variant of uncertain significance in which in silico models predicted to be disease causing and may explain the VM phenotype seen. We did not find any CNV changes in known genes leading to VM-related disease phenotypes. In this phenotype selected cohort, is the largest monogenic cause of VM-related disease accounting for 9% of the cohort, supported by a variant burden test approach, which identified variants as the largest contributor to VM-related phenotypes.
CONCLUSIONS
VM are a group of disorders that are not easily classified and may be given different diagnostic labels depending on their phenotype. Molecular genetic analysis of these patients is valuable as it allows precise diagnosis and aids understanding of the underlying disease manifestations. We identified as the most frequent genetic cause of VM. We recommend a nomenclature change to 'autosomal dominant ACTG2 visceral myopathy' for patients with pathogenic variants in and associated VM phenotype.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s44162-023-00012-z.
PubMed: 37288276
DOI: 10.1007/s44162-023-00012-z -
The Pan African Medical Journal 2018
PubMed: 31037170
DOI: 10.11604/pamj.2018.31.109.16702 -
Medicine Jun 2018Hereditary multiple intestinal atresia associated with severe combined immunodeficiency (MIA-SCID) is a very rare disease caused by deleterious mutations in the... (Review)
Review
INTRODUCTION
Hereditary multiple intestinal atresia associated with severe combined immunodeficiency (MIA-SCID) is a very rare disease caused by deleterious mutations in the tetratricopeptide repeat domain-containing protein 7A gene TTC7A. It is characterized by intestinal obstruction, sepsis, and a poor prognosis. Insights into phenotype-genotype correlations could help to guide genetic counseling and increase our knowledge of the natural history of this disease.
CASE PRESENTATION
We report the case of a newborn in which his fetal magnetic resonance imaging showed jejunal atresia and microcolon and an abdominal x-ray at birth confirmed intestinal obstruction. The clinical course was complicated by multiple episodes of sepsis, and laboratory investigations showed SCID. The genetic analysis identified a homozygous c.53344_53347 mutation in the TTC7A gene compatible with MIA-SCID syndrome. The patient required 3 operations because of new intestinal atresias in the first months of life. She underwent bone marrow transplantation at 8 months of age but died of liver failure secondary to graft-versus-host disease.
CONCLUSION
Immunologic assessment and genetic screening for TTC7A mutations are important in patients with MIA. Greater knowledge of the functions of the TTC7A protein will have important therapeutic implications for patients with MIA-SCID syndrome.
Topics: Fatal Outcome; Female; Humans; Infant, Newborn; Infant, Premature; Intestinal Atresia; Mutation; Proteins; Sepsis; Severe Combined Immunodeficiency
PubMed: 29879038
DOI: 10.1097/MD.0000000000010939 -
Pediatric Surgery International Nov 2010Colostomy is an operation frequently performed in pediatric surgery. Despite its benefits, it can produce significant morbidity. In a previous publication we presented...
PURPOSE
Colostomy is an operation frequently performed in pediatric surgery. Despite its benefits, it can produce significant morbidity. In a previous publication we presented our experience with the errors and complications that occurred during cases of colostomy creation. We now have focused in the morbidity related to the colostomy closure. The technical details that might have contributed to the minimal morbidity we experienced are described.
METHODS
The medical records of 649 patients who underwent colostomy closure over a 28-year period were retrospectively reviewed looking for complications following these procedures. Our perioperative protocol for colostomy closure consisted in: clear fluids by mouth and repeated proximal stoma irrigations 24 h prior to the operation. Administration of IV antibiotics during anesthesia induction and continued for 48 h. Meticulous surgical technique that included: packing of the proximal stoma, plastic drape to immobilize the surgical field, careful hemostasis, emphasis in avoiding contamination, cleaning the edge of the stomas to allow a good 2-layer, end-to-end anastomosis with separated long-term absorbable sutures, generous irrigation of the peritoneal cavity and subsequent layers with saline solution, closure by layers to avoid dead space, and avoidance of hematomas. No drains and no nasogastric tubes were used. Oral fluids were started the day after surgery and patients were discharged 48-72 h after the operation.
RESULTS
The original diagnoses of the patients were: anorectal malformation (583), Hirschsprung's disease (53), and others (13). 10 patients (1.5%) had complications: 6 had intestinal obstruction (5 due to small bowel adhesions, 1 had temporary delay of the function of the anastomosis due to a severe size discrepancy between proximal and distal stoma with a distal microcolon) and 4 incisional hernias. There were no anastomotic dehiscences or wound infection. There was no bleeding, no anastomotic stricture and no mortality.
CONCLUSION
Based on this experience we believe that colostomy closure can be performed with minimal morbidity provided a meticulous technique is observed.
Topics: Abdominal Wound Closure Techniques; Anastomosis, Surgical; Child; Colostomy; Humans; Preoperative Care
PubMed: 20714731
DOI: 10.1007/s00383-010-2690-6 -
Preliminary Investigation of the Diagnosis of Neonatal Congenital Small Bowel Atresia by Ultrasound.BioMed Research International 2019To assess the diagnostic value of ultrasonography (US) for congenital small bowel atresia (SBA) in neonates and their sonographic characteristics.
PURPOSE
To assess the diagnostic value of ultrasonography (US) for congenital small bowel atresia (SBA) in neonates and their sonographic characteristics.
METHODS
A retrospective analysis was performed of 20 neonates who were confirmed with SBA by operation from March 2014 to January 2019. All the neonates have been scanned by US before surgery, and no one underwent barium enema or upper gastrointestinal imaging prior to US. Preoperation ultrasound characteristics about intestinal morphology and intestinal contents were collected, further to summarize the typical ultrasonic features of SBA.
RESULTS
Five cases were duodenal atresia, and 15 cases were jejuno-ileal atresia. Distended proximal intestines, liquid with tiny points in it, can be found in 20 neonates. The small intestine without any gas can be found in 20 neonates. Microcolon, no gas and other contents in it, can be found in 16 cases.
CONCLUSIONS
The typical ultrasonic features of SBA include dilation in proximal intestines, small intestines, and microcolon. US is a promising modality in the clinical diagnosis of SBA.
Topics: Colon; Duodenal Obstruction; Female; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Obstruction; Intestine, Small; Male; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 31662992
DOI: 10.1155/2019/7097159 -
American Journal of Medical Genetics.... Nov 2016Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to... (Review)
Review
Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo-obstruction (CIPO, MIM609629), and multisystemic smooth muscle dysfunction syndrome (MSMDS, MIM613834). The genetic bases of these conditions recently begun to be clarified with the identification of pathogenic variants in ACTG2, ACTA2, and MYH11 in individuals with visceral motility dysfunction. The MMIHS was associated with the heterozygous variant in ACTG2 and homozygous variant in MYH11, while the heterozygous variant in ACTA2 was observed in patients with MSMDS. In this study, we describe the clinical data as well as the molecular investigation of seven individuals with visceral myopathy phenotypes. Five patients presented with MMIHS, including two siblings from consanguineous parents, one had CIPO, and the other had MSMDS. In three individuals with MMIHS and in one with CIPO we identified heterozygous variant in ACTG2, one being a novel variant (c.584C>T-p.Thr195Ile). In the individual with MSMDS we identified a heterozygous variant in ACTA2. We performed the whole-exome sequencing in one sibling with MMIHS and her parents; however, the pathogenic variant responsible for her phenotype could not be identified. These results reinforce the clinical and genetic heterogeneity of the visceral myopathies. Although many cases of MMIHS are associated with ACTG2 variants, we suggest that other genes, besides MYH11, could cause the MMIHS with autosomal recessive pattern. © 2016 Wiley Periodicals, Inc.
Topics: Abnormalities, Multiple; Actins; Child, Preschool; Colon; Consanguinity; DNA Mutational Analysis; Fatal Outcome; Female; Genetic Association Studies; Humans; Infant; Infant, Newborn; Intestinal Pseudo-Obstruction; Male; Mutation; Phenotype; Polymorphism, Single Nucleotide; Treatment Outcome; Ultrasonography, Prenatal; Urinary Bladder
PubMed: 27481187
DOI: 10.1002/ajmg.a.37857 -
Medicine and Pharmacy Reports Oct 2020We present a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a four days old female infant who presented with abdominal distension, bilious...
Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age - case report and review of the literature.
We present a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a four days old female infant who presented with abdominal distension, bilious vomiting, massive hematuria and feeding intolerance which was first interpreted as Prune Belly Syndrome (PBS), referred to our department after iatrogenic gastric and colonic perforation. Berdon syndrome or MMIHS is a rare congenital anomaly characterized by a massive enlarged bladder, distended abdomen, microcolon, functional obstruction of the gastrointestinal tract, and malrotation.
PubMed: 33225270
DOI: 10.15386/mpr-1583