Evidence map›Paper›PMID 32107470›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020

Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span.

Line Kenborg, Anne Katrine Duun-Henriksen, Susanne O Dalton, Pernille E Bidstrup, Karoline Doser, Kathrine Rugbjerg, Camilla Pedersen, Anja Krøyer, Christoffer Johansen, Klaus Kaae Andersen and 6 more

Abstract read
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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

14 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Epilepsy in NF1: a systematic review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020
    Pooled it
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  14. Haploinsufficiency of theJournal of medical genetics · 2021
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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

16 authors.

Line KenborgChildhood Cancer Research Group, Danish Cancer Society Research Center, Copenhagen, Denmark. kenborg@cancer.dk.ORCID http://orcid.org/0000-0002-3584-6570
Anne Katrine Duun-HenriksenStatistics and Pharmacoepidemiology, Danish Cancer Society Research Center, Copenhagen, Denmark.
Susanne O DaltonSurvivorship Unit, Danish Cancer Society Research Center, Copenhagen, Denmark.
Pernille E BidstrupSurvivorship Unit, Danish Cancer Society Research Center, Copenhagen, Denmark.
Karoline DoserSurvivorship Unit, Danish Cancer Society Research Center, Copenhagen, Denmark.
Kathrine RugbjergChildhood Cancer Research Group, Danish Cancer Society Research Center, Copenhagen, Denmark.
Camilla PedersenChildhood Cancer Research Group, Danish Cancer Society Research Center, Copenhagen, Denmark.
Anja KrøyerChildhood Cancer Research Group, Danish Cancer Society Research Center, Copenhagen, Denmark.
Christoffer JohansenSurvivorship Unit, Danish Cancer Society Research Center, Copenhagen, Denmark.
Klaus Kaae AndersenStatistics and Pharmacoepidemiology, Danish Cancer Society Research Center, Copenhagen, Denmark.
John R ØstergaardCentre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
Hanne HoveDepartment of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Sven Asger SørensenDepartment of Neurogenetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.
Vincent M RiccardiThe Neurofibromatosis Institute, La Crescenta, CA, USA.
John J MulvihillDepartment of Pediatrics, University of Oklahoma, Oklahoma City, OK, USA.
Jeanette F WintherChildhood Cancer Research Group, Danish Cancer Society Research Center, Copenhagen, Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe aim was to assess lifetime risk for hospitalization in individuals with neurofibromatosis 1 (NF1).

methodsThe 2467 individuals discharged with a diagnosis indicating NF1 or followed in a clinical center for NF1 were matched to 20,132 general population comparisons. Based on diagnoses in 12 main diagnostic groups and 146 subcategories, we calculated rate ratios (RRs), absolute excess risks (AERs), and hazard ratios for hospitalizations.

resultsThe RR for any first hospitalization among individuals with NF1 was 2.3 (95% confidence interval 2.2-2.5). A high AER was seen for all 12 main diagnostic groups, dominated by disorders of the nervous system (14.5% of all AERs), benign (13.6%) and malignant neoplasms (13.4%), and disorders of the digestive (10.5%) and respiratory systems (10.3%). Neoplasms, nerve and peripheral ganglia disease, pneumonia, epilepsy, bone and joint disorders, and intestinal infections were major contributors to the excess disease burden caused by NF1. Individuals with NF1 had more hospitalizations and spent more days in hospital than the comparisons. The increased risk for any hospitalization was observed for both children and adults, with or without an associated cancer.

conclusionNF1 causes an overall greater likelihood of hospitalization, with frequent and longer hospitalizations involving all organ systems throughout life.

Indexed as

Neurofibromatosis 1AdultChildDenmarkHospitalizationHumansLongevityRegistriescohort studyhospitalizationsneurofibromatosis 1population-based

Identifiers

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Registered trials

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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.