Evidence map›Paper›PMID 38003005›Full record

ReviewGenes2023

A Sporadic Case of

Karolina Vankevičienė, Aušra Matulevičienė, Eglė Mazgelytė, Virginija Paliulytė, Ramunė Vankevičienė, Diana Ramašauskaitė

Open access · goldAbstract readReviewCase Reports
In one paragraph

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.3field-weighted citation impact, top 16% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

6 authors at 1 institution in 1 country.

Karolina VankevičienėFaculty of Medicine, Vilnius University, M. K. Čiurlionio Str. 21/27, LT-03101 Vilnius, Lithuania.ORCID 0009-0001-0217-0551
Aušra MatulevičienėDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariskiu Str. 2, LT-08661 Vilnius, Lithuania.
Eglė MazgelytėDepartment of Physiology, Biochemistry, Microbiology and Laboratory Medicine, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, M. K. Čiurlionio Str. 21/27, LT-03101 Vilnius, Lithuania.ORCID 0000-0002-1033-0607
Virginija PaliulytėClinic of Obstetrics and Gynaecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, M. K. Čiurlionio Str. 21/27, LT-03101 Vilnius, Lithuania.
Ramunė VankevičienėClinic of Children's Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, M. K. Čiurlionio Str. 21/27, LT-03101 Vilnius, Lithuania.
Diana RamašauskaitėClinic of Obstetrics and Gynaecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, M. K. Čiurlionio Str. 21/27, LT-03101 Vilnius, Lithuania.
Vilnius University · LT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasound screening. In this article, we describe a case report of OI suspected at the 26th week of gestation and the patient's outcomes in infancy one year after birth, as well as compare our case to other prenatally or soon-after-birth suspected and/or diagnosed OI clinical case reports in the literature. This case was managed by a multidisciplinary team. In this clinical case, OI was first suspected when prenatal ultrasound revealed asymmetric intrauterine growth restriction and skeletal dysplasia features. The diagnosis was confirmed after birth using

Indexed as

Osteogenesis ImperfectaCollagen Type ICollagen Type I, alpha 1 ChainFemaleFetal Growth RetardationHumansInfantPregnancyPrenatal DiagnosisCollagen Type ICollagen Type I, alpha 1 Chainbisphosphonatebone fracturesbrittle bone diseaseCOL1A1 variantfetal fracturesosteogenesis imperfectaprenatal ultrasound screeningskeletal dysplasia

Identifiers

PMID38003005
PMCPMC10671798
OpenAlexW4388574078

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.