Rectal Biopsy Technique for the Diagnosis of Hirschsprung Disease in Children: A Systematic Review and Meta-Analysis.

ABSTRACT: The diagnosis of Hirschsprung disease (HD) depends on the histopathological analysis of rectal biopsies. This review aims to define the best rectal biopsy technique. A systematic literature review and proportional meta-analysis of the available case series studies of rectal biopsies were performed in this study. All case series with more than five rectal biopsies in children younger than 18 years of age suspected of HD that described at least one type of rectal biopsy were included. The studies that did not specify the rate of conclusive results and the rate of complications of the biopsy procedures were excluded. According to the literature review, there were four different techniques of rectal biopsy: open, suction, punch, and endoscopic. In the title and abstract screening process, we assessed 496 articles, 159 fulfilled the eligibility criteria, and 71 studies reported our outcomes of interest and were included in the meta-analysis. The pooled proportion of conclusive results was 94% in open biopsies (95% CI 0.89-0.98), 95% in punch (95% CI 0.90-0.98), and 88% in suction group (95% CI 0.85-0.92). The pooled proportion of complication rates was 2% in open biopsies (95% CI 0.00031-0.04), 0.039% in suction (95% CI 0.00023-0.0006), and 2% in punch biopsies (95% CI 0.00075-0.04). Suction, punch, and open techniques presented comparable rates of conclusive results. In the suction group, the association between different methods of histopathological analysis increased conclusive results rates; however, the punch biopsy was associated with significantly higher complication rates than the suction technique.

Are biopsies always necessary in upper and lower gastrointestinal endoscopy in children? A retrospective 10-year analysis.

Little attention has been given to the efficiency and validity of performing routine endoscopic biopsies in normal areas in children. This study aimed to investigate the need to perform routine biopsies in upper gastrointestinal endoscopy (UDE) and colonoscopy in normal areas by comparing macroscopy and histology. It was a 10-year retrospective analysis with the inclusion of 761 UDEs and 177 colonoscopies. Considering all segments, UDEs showed false-positive result rates of 73.11% and false-negative result rates of 14.34%. The histological results modified the initial management in 53.95% of patients. Considering all segments, colonoscopies showed false-positive result rates of 63.64% and false-negative result rates of 30.97%. The histological results modified the initial management in 34.45% of patients.Conclusion: If biopsies were obtained only in abnormal areas, the diagnosis would be lost in 53.95% of the patients in upper endoscopies and 85.7% of the colonoscopies, which justifies routine maintenance of biopsies in macroscopically normal areas in children. What is Known: • Little attention has been given to the efficiency and validity of endoscopic biopsies of normal areas during pediatric exams. • Only a few pediatric studies have correlated macroscopic and histological findings from endoscopic biopsies, and low sensitivity and specificity, as well as poor agreement, were reported. What is New: • Our study confirms the evidence that routine biopsies from macroscopically normal areas during upper and lower digestive endoscopies can lead to histopathological diagnoses and different medical management. • This is the first research on this topic in a Latin population, from a developing country, reassuring the results obtained in previous papers from other countries.

MicroRNA expression profiles in the esophagus of children with caustic stenosis: A pathway towards esophageal cancer?

BACKGROUND: Eighty percent of caustic ingestions occur in children and esophageal neoplasms may develop as a late complication of such injury. The identification of biomarkers is a promising strategy to improve early diagnosis of esophageal cancer or caustic lesions that are at an increased risk of progression. STUDY DESIGN/AIMS: This study aimed at identifying global microRNA (miRNA) expression changes in esophageal mucosa from children with caustic stenosis. The study included 27 biopsy samples from 15 patients. Samples were divided into two groups, according to the time elapsed after injury (N = 15 in Group A, with less than five years of follow-up and N = 12 in Group B, with more than five years of follow-up). miRNA expression profiles were determined in each lesion, compared with normal esophageal tissues from control group. We used the TaqMan Human MicroRNA Arrays (Thermo Fisher) platform. Furthermore, bioinformatic algorithms were used to identify miRNA target genes and biological pathways including miRNAs and their target genes potentially associated with esophageal disease. RESULTS: Thirteen miRNAs were significantly deregulated (9 over- and 4 underexpressed) in patients from Group A. In patients from Group B, two miRNAs were over- and two were underexpressed. Of note, miR-374 and miR-574 were deregulated in Group B patients and have been linked to esophageal tumorigenesis. We identified signal transduction and transcription factor networks with genes strongly related to development and progression of esophageal cancer. CONCLUSION: miRNAs identified here contribute to a better understanding of pathways associated with malignant transformation from caustic stenosis to neoplastic lesions. This study may serve as a basis for validation of miRNAs, including miR-374 and miR-574, as potential biomarkers of early cancer detection.

Observation time and spontaneous resolution of primary phimosis in children / Tempo de observação e resolução espontânea de fimose primária em crianças

ABSTRACT Objective: to investigate spontaneous resolution rate of a series of patients with physiologic phimosis in relation to observation time and presence of symptoms. Methods: retrospective and longitudinal follow-up study of patients with physiologic phimosis, that did not apply topic treatment. These patients were invited for a new visit for reevaluation, or recent data were obtained by chart analysis. Spontaneous resolution rate was determined and statistically compared to age, presence of symptoms at first medical visit and time until reevaluation. Results: seventy one patients were included. Medium time of observation from first visit to reevaluation was 37.4 months. There was spontaneous resolution of phimosis in 32 (45%) patients. Children with spontaneous resolution were younger at initial diagnosis and were observed during a longer period of time. Most asymptomatic patients at first visit presented spontaneous resolution. However, it was not possible to stablish a significant relationship between presence of symptoms and evolution of physiologic phimosis. Conclusions: time of observation was the main determinant of spontaneous resolution of patients with physiologic phimosis, reinforcing the current more conservative approach regarding circumcision of those patients.

RESUMO Objetivo: investigar a taxa de resolução espontânea de uma série de pacientes com diagnóstico de fimose fisiológica e sua relação com o tempo de observação e com a presença de sintomas. Métodos: estudo retrospectivo e de seguimento longitudinal e observacional de pacientes em acompanhamento por fimose fisiológica, que não haviam realizado tratamento tópico. Estes pacientes foram convocados para uma consulta médica de reavaliação ou tiveram dados recentes obtidos a partir da análise dos prontuários. A taxa de resolução espontânea foi determinada e comparada estatisticamente de acordo com a idade, com a presença de sintomas no momento da primeira consulta e com o tempo transcorrido entre a primeira consulta e a reavaliação. Resultados: setenta e um pacientes foram incluídos no estudo. O tempo médio de observação, entre a primeira consulta e a reavaliação foi de 37,4 meses. Houve resolução espontânea da fimose em 32 (45%) pacientes. As crianças que apresentaram resolução espontânea eram mais jovens no momento do diagnóstico inicial e foram observadas por um maior intervalo de tempo. A maior parte dos pacientes assintomáticos na primeira consulta apresentou resolução espontânea. No entanto, não foi possível estabelecer uma relação significativa entre a presença de sintomas e a evolução da fimose fisiológica. Conclusões: o tempo de observação foi o maior determinante para a resolução espontânea de pacientes com fimose fisiológica, o que reforça a tendência atual mais conservadora em relação às indicações de circuncisão para estes pacientes.