Evidence map›Paper›PMID 36844206›Full record

ArticleFrontiers in medicine2023

A founder

Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–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

4 citing papers in PubMed.

  1. Article
  2. Health Care and Access to Quality Social-Health Services of the Roma and Sinti: A Scoping Review.International journal of environmental research and public health · 2025
    Article
  3. Genetic study of Alport syndrome in Tunisia.Pediatric nephrology (Berlin, Germany) · 2025
    Article
  4. A founderFrontiers in medicine · 2023
    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

24 authors.

Pavlina PlevovaDepartment of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Jana IndrakovaDepartment of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Judy SavigeDepartment of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Royal Melbourne Hospital, Melbourne, Australia.
Petra KuhnovaDepartment of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Petra TvrdaDepartment of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Dita CernaDepartment of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Sarka HilscherovaDepartment of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Monika KudrejovaDepartment of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Daniela PolendovaDepartment of Medical Genetics, Faculty of Medicine in Plzeň, Charles University and University Hospital Plzeň, Plzeň, Czechia.
Radka JaklovaDepartment of Medical Genetics, Faculty of Medicine in Plzeň, Charles University and University Hospital Plzeň, Plzeň, Czechia.
Martina LangovaDepartment of Medical Genetics, Thomayer University Hospital, Prague, Czechia.
Helena JahnovaDepartment of Pediatrics, Third Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, Prague, Czechia.
Jana LastuvkovaDepartment of Medical Genetics, Krajská zdravotní, a.s., Masaryk Hospital in Ústí nad Labem, Ústí nad Labem, Czechia.
Jiri DusekDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.
Josef GutDepartment of Pediatrics, Hospital Česká Lípa, Česká Lípa, Czechia.
Marketa VlckovaDepartment of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.
Pavla SolarovaDepartment of Medical Genetics, University Hospital Hradec Králové, Hradec Králové, Czechia.
Gabriela KreckovaDepartment of Medical Genetics, Gennet, s.r.o., Liberec, Czechia.
Eva KantorovaDepartment of Medical Genetics, Hospital České Budějovice a.s., České Budějovice, Czechia.
Jana SoukalovaDepartment of Medical Genetics and Genomics, University Hospital Brno, Brno, Czechia.
Rastislav SlavkovskyInstitute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czechia.
Jana ZapletalovaDepartment of Medical Biophysics, Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czechia.
Tomas TichyInstitute of Clinical and Molecular Pathology, Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czechia.
Dana ThomasovaDepartment of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the Materials and methods: The study included 57 Romani from different families with clinical features that suggested AS who underwent next-generation sequencing (NGS) of the Results: In total, 27 Romani (19%) had autosomal recessive AS caused by a homozygous pathogenic c.1598G>A, p.Gly533Asp variant in Conclusion: These two founder variants contribute to the high prevalence of kidney failure in Czech Romani. The estimated population frequency of autosomal recessive AS from these variants and consanguinity by descent is at least 1:11,000 in Czech Romani. This corresponds to a population frequency of autosomal dominant AS from these two variants alone of 1%. Romani with persistent hematuria should be offered genetic testing.

Indexed as

Alport syndromeconsanguinityend-stage kidney failurehearing losshematuriaproteinuriaRomani

Identifiers

PMID36844206
PMCPMC9948603

What OpenQuestion holds

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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.