Evidence map›Paper›PMID 26179259›Full record

SynthesisPediatric surgery international2015

Familial Hirschsprung's disease: a systematic review.

Danielle Mc Laughlin, Prem Puri

Abstract readSystematic Review
PubMed Publisher
In one paragraph

Synthesis in Pediatric surgery international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Novel CausativeJournal of pediatric genetics · 2022
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Danielle Mc LaughlinNational Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Prem Puri
Children's Health Ireland at Crumlin · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHirschsprung's disease (HSCR) is a multi-genetic disorder with complex inheritance patterns. Population risk is 1 in 5000 but is reported to be increased in families of patients with HSCR. Appropriate counseling of affected families could be assisted by data from a large volume of patients. It was the aim of this study to systematically analyse the patterns of familial HSCR in the published literature.

methodsPubmed (®) database was searched using the terms "Hirschsprung's disease" and "familial" for studies published between 1980 and 2015 on cohorts of index patients with HSCR reporting on familial recurrence. Studies giving rates of familial HSCR together with the total number of HSCR cases at that centre were included.

resultsIn 4331 index cases of HSCR, an overall rate of 7.6% familial recurrence was found. In total colonic aganglionosis, 20% of cases were familial. Recurrence of HSCR within families predominantly occurred in siblings (62%) and was reported between parent and offspring in 22% and in other relatives in 16%. Multiple generations were affected in 15% of families.

conclusionFamilial recurrence of HSCR occurs frequently and should be discussed with families of diagnosed patients. Genetic counseling should be offered in these families and in particular for those patients with long segment and total colonic aganglionosis.

Indexed as

Hirschsprung DiseaseChildHumans

Identifiers

PMID26179259
OpenAlexW870861354

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.