Evidence map›Paper›PMID 33530412›Full record

ArticleJournal of clinical medicine2021

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in

Jolanta Zegarska, Ewa Wiesik-Szewczyk, Ewa Hryniewiecka, Beata Wolska-Kusnierz, Dariusz Soldacki, Magdalena Kacprzak, Agnieszka Sobczynska-Tomaszewska, Kamila Czerska, Pawel Siedlecki, Karina Jahnz-Rozyk and 3 more

Open access · goldAbstract read
In one paragraph

Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.2field-weighted citation impact, top 49% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Autoinflammation It Is!Journal of clinical medicine · 2021
    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

13 authors at 4 institutions in 1 country.

Jolanta ZegarskaDepartment of Immunology, Transplant Medicine and Internal Diseases, Medical University of Warsaw, 59 Nowogrodzka St., 02-006 Warsaw, Poland.
Ewa Wiesik-SzewczykDepartment of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, 128 Szaserów St., 04-141 Warsaw, Poland.ORCID 0000-0001-8509-4453
Ewa HryniewieckaDepartment of Immunology, Transplant Medicine and Internal Diseases, Medical University of Warsaw, 59 Nowogrodzka St., 02-006 Warsaw, Poland.ORCID 0000-0002-9027-9417
Beata Wolska-KusnierzDepartment of Immunology, Children's Memorial Health Institute, 20 Dzieci Polskich Ave., 04-730 Warsaw, Poland.
Dariusz SoldackiDepartment of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, 128 Szaserów St., 04-141 Warsaw, Poland.
Magdalena KacprzakMEDGEN Medical Centre, 9a Wiktorii Wiedenskiej St., 02-954 Warsaw, Poland.
Agnieszka Sobczynska-TomaszewskaMEDGEN Medical Centre, 9a Wiktorii Wiedenskiej St., 02-954 Warsaw, Poland.
Kamila CzerskaMEDGEN Medical Centre, 9a Wiktorii Wiedenskiej St., 02-954 Warsaw, Poland.
Pawel SiedleckiDepartment of Bioinformatics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 5a Adolfa Pawinskiego St., 02-106 Warsaw, Poland.
Karina Jahnz-RozykDepartment of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, 128 Szaserów St., 04-141 Warsaw, Poland.ORCID 0000-0002-3505-1858
Ewa BernatowskaDepartment of Immunology, Children's Memorial Health Institute, 20 Dzieci Polskich Ave., 04-730 Warsaw, Poland.
Radoslaw ZagozdzonDepartment of Immunology, Transplant Medicine and Internal Diseases, Medical University of Warsaw, 59 Nowogrodzka St., 02-006 Warsaw, Poland.ORCID 0000-0002-7957-2372
Leszek PaczekDepartment of Immunology, Transplant Medicine and Internal Diseases, Medical University of Warsaw, 59 Nowogrodzka St., 02-006 Warsaw, Poland.ORCID 0000-0003-0160-3009
Medical University of Warsaw · PLCentral Clinical Hospital · PLChildren's Memorial Health Institute · PLInstitute of Biochemistry and Biophysics, Polish Academy of Sciences · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) belongs to systemic autoinflammatory diseases (AIDs). Many of these syndromes are genetically conditioned and can be inherited. Diagnosis relies on clinical symptoms and should be confirmed by genetic testing. One of the most serious complications is AA amyloidosis. We present the diagnostic route of a 33-year-old male with AA amyloidosis and his children, leading to diagnosis of monogenic autoinflammatory syndrome, confirmed by genetic analysis. A novel variant of the in-frame insertion type in one allele of

Indexed as

anakinradamage indexdiagnostic delaygenetic inheritancemonogenic autoinflammatory syndromenew genetic variantpersonalized therapy

Identifiers

PMID33530412
PMCPMC7865531
OpenAlexW3122389159

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.