Evidence map›Paper›PMID 31893057›Full record

ArticleClinical case reports2019

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.

Dimitrios T Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 32% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

12 authors at 6 institutions in 3 countries.

Dimitrios T PapadimitriouDepartment of Pediatric Endocrinology & Diabetes Athens Medical Center Athens Greece.ORCID https://orcid.org/0000-0002-6083-3560
Kleanthis KleanthousDepartment of Pediatric Endocrinology & Diabetes Athens Medical Center Athens Greece.
Emmanouil ManolakosAccess to Genome Athens-Thessaloniki Athens Greece.
Anatoly TiulpakovDepartment and Laboratory of Inherited Endocrine Disorders Endocrinology Research Centre Moscow Russia.ORCID https://orcid.org/0000-0001-8500-4841
Thomas NikolopoulosDepartment of Pediatric Otorhinolaryngology Attikon University Hospital Athens Greece.
Alexandros DelidesDepartment of Pediatric Otorhinolaryngology Attikon University Hospital Athens Greece.
Gerasimos VorosDepartment of Pediatric Ophthalmology Athens Medical Center Athens Greece.
Argyrios DinopoulosDepartment of Pediatric Neurology Attikon University Hospital Athens Greece.
George ZoupanosDepartment of Pediatric Urology Athens Medical Center Athens Greece.
Anastasios PapadimitriouDepartment of Pediatric Endocrinology and Diabetes Attikon University Hospital Athens Greece.
Georgios MastorakosEndocrine Unit Aretaieion Hospital Medical School University of Athens Athens Greece.
Fumihiko UranoWashington University School of Medicine St. Louis MO.
Athens Medical Center · GRUniversity General Hospital Attikon · GREndocrinology Research Center · RUHellenic Agency for Local Development and Local Government · GRNational and Kapodistrian University of Athens · GRWashington University in St. Louis · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status-maintaining quality of life-are of crucial importance.

Indexed as

diabetes insipidusdiabetes mellitusnovel mutationWFS1 geneWolfram syndrome

Identifiers

PMID31893057
PMCPMC6935624
OpenAlexW2981736141

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.