Evidence map›Paper›PMID 28466453›Full record

ReviewCurrent osteoporosis reports2017

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.

Maurizio Pacifici

Registry-linked trialAbstract readReview
In one paragraph

Review in Current osteoporosis reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04133285 (Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available.), which is not on this map. Cited by 62 papers.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed
8.2field-weighted citation impact, top 2% 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.

NCT04133285 recruitingnot on this map

Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available.

Typeobservational_patient_registrySponsorLuca SangiorgiRan2013 to 2032Enrolled10,000ConditionsMultiple Osteochondromas
3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 119 citations in OpenAlex.

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  18. Popliteal pseudoaneurysm in a young patient with multiple hereditary exostosis.Journal of vascular surgery cases and innovative techniques · 2023
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2 more citing papers are in PubMed but not listed here.

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

1 author at 1 institution in 1 country.

Maurizio PacificiTranslational Research Program in Pediatric Orthopaedics, Abramson Research Center, 902D, Division of Orthopaedic Surgery, Department of Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. pacificim@email.chop.edu.
Children's Hospital of Philadelphia · US

Funding

Pathogenic Mechanisms in Hereditary Multiple Exostoses SyndromeR01AR061758 · NIAMS · CHILDREN'S HOSP OF PHILADELPHIA · PI Maurizio Pacifici · 2011 to 2026
$6.3M
NIAMS NIH HHS R01 AR061758
6 · The paper itself

Abstract

purpose of reviewHereditary multiple exostoses (HME) is a complex musculoskeletal pediatric disorder characterized by osteochondromas that form next to the growth plates of many skeletal elements, including long bones, ribs, and vertebrae. Due to its intricacies and unresolved issues, HME continues to pose major challenges to both clinicians and biomedical researchers. The purpose of this review is to describe and analyze recent advances in this field and point to possible targets and strategies for future biologically based therapeutic intervention. RECENT

findingsMost HME cases are linked to loss-of-function mutations in EXT1 or EXT2 that encode glycosyltransferases responsible for heparan sulfate (HS) synthesis, leading to HS deficiency. Recent genomic inquiries have extended those findings but have yet to provide a definitive genotype-phenotype correlation. Clinical studies emphasize that in addition to the well-known skeletal problems caused by osteochondromas, HME patients can experience, and suffer from, other symptoms and health complications such as chronic pain and nerve impingement. Laboratory work has produced novel insights into alterations in cellular and molecular mechanisms instigated by HS deficiency and subtending onset and growth of osteochondroma and how such changes could be targeted toward therapeutic ends. HME is a rare and orphan disease and, as such, is being studied only by a handful of clinical and basic investigators. Despite this limitation, significant advances have been made in the last few years, and the future bodes well for deciphering more thoroughly its pathogenesis and, in turn, identifying the most effective treatment for osteochondroma prevention.

Indexed as

Chronic PainExostoses, Multiple HereditaryExostosin 1Exostosin 2HumansMutationN-AcetylglucosaminyltransferasesNerve Compression SyndromesExostosin 1Exostosin 2N-AcetylglucosaminyltransferasesDrug treatmentEXT1EXT2Genotype-phenotype correlationsHeparan sulfateHereditary multiple exostosesMultiple osteochondromasSignaling proteins

Identifiers

PMID28466453
PMCPMC5510481
OpenAlexW2611467507

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.