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BMC Pediatrics Oct 2022Microcolon helps diagnose small bowel atresia (SBA) using contrast enema. However, there are no ultrasonography (US) microcolon criteria for diagnosing SBA. Therefore,...
BACKGROUND
Microcolon helps diagnose small bowel atresia (SBA) using contrast enema. However, there are no ultrasonography (US) microcolon criteria for diagnosing SBA. Therefore, this study aimed to evaluate colon accuracy and other characteristics for diagnosing SBA by US, using surgical or clinical information as the reference standard.
METHODS
US was performed on 46 neonates aged ≤ 7 days old. In the study group (n = 15), neonates with SBA were confirmed following surgery. In the study group without SBA (n = 15), neonates with other gastrointestinal problems besides SBA were confirmed by surgical or clinical follow-up. Sixteen neonates without gastrointestinal problems were classified as the control group. The colonic diameter was measured, and colonic gas was sought and observed. Statistical analysis was performed to compare US parameters between the study group and other two groups. The optimal cut-off value of the colonic diameter for SBA diagnosis was obtained using receiver operating characteristic analysis.
RESULTS
Colonic diameters (0.5 cm) in the study group (interquartile ranges [IQR], 0.5-0.6 cm) was significantly smaller than that in the group without SBA (0.9 cm; IQR, 0.8-1.2 cm) (P < 0.001) and in the control group (1.2 cm; IQR, 0.8-1.35 cm) (P < 0.001). Optimum cut-off value for diagnosing SBA was 0.65 cm (sensitivity, 90.3%; specificity, 86.7%; accuracy, 89.1%) for the colonic diameter. Combining microcolon and gas-negativity showed the best performance in SBA diagnosis using US, with increased accuracy (91.3%).
CONCLUSION
A colon < 0.65 cm in diameter should be called a microcolon; combining US with gas-negativity is an essential diagnostic basis for SBA.
Topics: Colon; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Obstruction; Intestine, Small
PubMed: 36203132
DOI: 10.1186/s12887-022-03629-z -
Journal of Pediatric Gastroenterology... May 2022The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms...
BACKGROUND AND AIMS
The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease.
METHODS
Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored.
RESULTS
One hundred three patients (52% girls), from 14 publications, were included. Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) score was 29.2 (Interquartile range 26.3-29.4). Most patients underwent abdominal surgery (66%), about half required intermittent bladder catheterization (48.5%), and more than half were parenteral nutrition (PN)-dependent (53%). One-quarter of the patients died (25.7%), and 6 required transplant (5.8%). Girls had a higher rate of microcolon (P = 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early disease onset (<2 years of age) was associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) features. There was no statistical association between disease characteristics and CADD scores.
CONCLUSIONS
Damaging ACTG2 variants are rare, often associated with MMIHS phenotype, and overall have a wide phenotypic variation. Symptoms usually present in the perinatal period but can also appear at a later age. The course of the disease is marked by frequent need for surgical interventions, PN support, and mortality. Poor outcomes are more common among girls with ACTG2 variants.
Topics: Abnormalities, Multiple; Actins; Colon; Female; Humans; Intestinal Pseudo-Obstruction; Male; Phenotype; Pregnancy; Urinary Bladder
PubMed: 35149643
DOI: 10.1097/MPG.0000000000003400 -
Journal of Pediatric Gastroenterology... Apr 2021Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) patients.
OBJECTIVES
Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) patients.
METHODS
We conducted a retrospective chart review of MMIHS patients followed at a large transplant and intestinal rehabilitation center over a period of 17 years.
RESULTS
We identified 25 patients with MMIHS (68% girls, 13 transplanted). One transplanted and 1 nontransplanted patient were lost to follow-up. We estimated 100, 100, and 86% for 5-, 10-, and 20-year survival, respectively, with only 1 death. Of the 22 patients alive at the time of study (11 transplanted, 11 nontransplanted), median age was 9.2 years (range 2.7-22.9 years). Longest posttransplant follow-up was 16 years. Seventeen patients had available prenatal imaging reports; all showed distended bladder. Eight had genetic testing (5, ACTG2; 2, MYH11; 1, MYL9). Almost all patients had normal growth with median weight z-score -0.77 (interquartile range -1.39 to 0.26), height z score -1.2 (-2.04 to -0.48) and body mass index z-score 0.23 (-0.37 to 0.93) with no statistical difference between transplanted and nontransplanted patients. All nontransplanted patients were on parenteral nutrition with minimal/no feeds, and all except 1 of the transplanted patients were on full enteral feeds. Recent average bilirubin, INR, albumin, and creatinine fell within the reference ranges.
CONCLUSIONS
This is the largest single-center case series with the longest duration of follow-up for MMIHS patients. In the current era of improved intestinal rehabilitation and transplantation, MMIHS patients have excellent outcomes in survival, growth, and liver function. This observation contradicts previous reports and should alter counselling and management decisions in these patients at diagnosis.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Colon; Female; Follow-Up Studies; Humans; Intestinal Pseudo-Obstruction; Male; Peristalsis; Pregnancy; Retrospective Studies; Urinary Bladder; Young Adult
PubMed: 33264186
DOI: 10.1097/MPG.0000000000003008 -
Annals of Saudi Medicine May 1996
PubMed: 17372501
DOI: 10.5144/0256-4947.1996.353b -
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 -
Edinburgh Medical Journal Apr 1925
PubMed: 29641090
DOI: No ID Found -
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 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Colon; Fetal Diseases; Urinary Bladder; Intestinal Pseudo-Obstruction; Duodenum
PubMed: 38216263
DOI: 10.1016/j.tjog.2023.11.007 -
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 -
Canadian Medical Association Journal Jun 1954
PubMed: 20324906
DOI: No ID Found