Purpose: Rectal suction biopsy (RSB) is the gold standard for diagnosing Hirschsprung's disease (HD) in infants. Despite being a common procedure, no standard exists on the number of biopsy specimens and their respective level within the rectum.
Methods: We conducted a retrospective review of epidemiological and pathological data of patients who underwent RSB at our institution between January 2011 and May 2022. During RSB we obtain 4 specimens: at 1 cm, 3 cm and 5 cm above the dentate line, besides one specimen at the dentate line. We used a logistic regression model for statistical analysis and included control variables (e.g. underlying disease, weight at first biopsy, gestational age).
Results: A total of 92 patients underwent 115 biopsies, with an average of 3.77 specimens per session. Of the specimens taken at 1 cm above the dentate line 73.9% were conclusive, at 3 cm 75.9% and at 5 cm 79.2%. Specimens taken at the dentate line were squamous or transitional epithelia in 31.5% and therefore of no use for HD diagnostics. The specimen at 3 cm shows the highest discriminative power whether the biopsy session was diagnostic (p-value < 1%).
Conclusions: We propose that a total of three specimens, namely one at 1 cm, one at 3 cm and one at 5 cm above the dentate line, is enough to diagnose or exclude HD.
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http://dx.doi.org/10.1007/s00383-024-05793-y | DOI Listing |
J Pediatr Surg
November 2024
Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Introduction: It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.
View Article and Find Full Text PDFInt J Surg Case Rep
October 2024
Department of Surgery, University of Kansas Medical Center, Kansas City, KS 66103, USA.
Pediatr Pulmonol
December 2024
Cystic Fibrosis Unit, Pediatric Clinics, University Hospital of Parma, Parma, Italy.
Introduction: The triple combination of elexacaftor/tezacaftor/ivacaftor (ETI) has dramatically improved the outcome of people with Cystic Fibrosis (pwCF) with at least one F508del mutation. However, carriers of rare cystic fibrosis transmembrane conductance regulator (CFTR) variants are not candidates for this innovative treatment.
Methods: In this observational study, we report the results of the compassionate use of ETI in 10 pwCF carriers of rare mutations after 2 months of treatment.
Children (Basel)
August 2024
Department of Paediatric Surgery, Chelsea and Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK.
Background: The presenting symptoms of patients with Hirschsprung's disease (HD) are a failure to pass meconium, abdominal distension, and bilious vomiting. The gold standard diagnosis is a rectal biopsy to confirm aganglionosis. The aim of our study was to describe the diagnostic pathway of Hirschsprung's disease at our institution and document the indication for a rectal biopsy.
View Article and Find Full Text PDFBMC Res Notes
August 2024
Department of Pediatric Surgery, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Objective: The aim of this study is to investigate the accuracy of utilizing neural fiber trunk diameter in accurately diagnosing the length of the aganglionic segment in patients definitively diagnosed with Hirschsprung's disease.
Results: In this study, 40 patients (19 males, 21 females; mean age 2.5 ± 2.
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