Evidence map›Paper›PMID 33275732›Full record

ReviewHematology. American Society of Hematology. Education Program2020

Extrahematopoietic manifestations of the short telomere syndromes.

Kristen E Schratz

Open access · bronzeAbstract readCase ReportsReview
In one paragraph

Review in Hematology. American Society of Hematology. Education Program, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

14 citing papers in PubMed, 19 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Review
  7. Article
  8. Review
  9. Clonal evolution in inherited marrow failure syndromes predicts disease progression.Hematology. American Society of Hematology. Education Program · 2023
    Review
  10. Dyskeratosis congenita and telomere biology disorders.Hematology. American Society of Hematology. Education Program · 2022
    Review
  11. Review
  12. Telomere-mediated lung disease.Physiological reviews · 2022
    Review
  13. Review
  14. Mechanisms of somatic transformation in inherited bone marrow failure syndromes.Hematology. American Society of Hematology. Education Program · 2021
    Review
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.

Kristen E SchratzDepartment of Oncology and Telomere Center at Johns Hopkins, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD.
Sidney Kimmel Comprehensive Cancer Center · US

Funding

TRAINING PROGRAM IN HEMATOLOGYT32HL007525 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI ROBERT A BRODSKY · 1985 to 2026
$6.2M
Cancer Genetics of Short Telomere SyndromesR01CA225027 · NCI · JOHNS HOPKINS UNIVERSITY · PI ARMANIOS, MARY Y · 2018 to 2022
$2.4M
NCI NIH HHS R01 CA225027NHLBI NIH HHS T32 HL007525
6 · The paper itself

Abstract

The short telomere syndromes encompass a spectrum of clinical manifestations that present from infancy to late adulthood. They are caused by mutations in telomerase and other telomere maintenance genes and have a predominantly degenerative phenotype characterized by organ failure across multiple systems. They are collectively one of the most common inherited bone marrow failure syndromes; however, their most prevalent presentations are extrahematopoietic. This review focuses on these common nonhematologic complications, including pulmonary fibrosis, liver pathology, and immunodeficiency. The short telomere syndrome diagnosis informs clinical care, especially in guiding diagnostic evaluations as well as in the solid organ transplant setting. Early recognition allows an individualized approach to screening and management. This review illustrates a myriad of extrahematopoietic presentations of short telomere syndromes and how they impact clinical decisions.

Indexed as

Growth DisordersHypercalcemiaMetabolic DiseasesNephrocalcinosisTelomereAnimalsFemaleHumansMiceMiddle Aged

Identifiers

PMID33275732
PMCPMC7727508
OpenAlexW3107145216

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.