Evidence map›Paper›PMID 30514998›Full record

ReviewMedical archives (Sarajevo, Bosnia and Herzegovina)2018

Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

Panagiotis-Theofanis Arkoumanis, Antonios Gklavas, Margarita Karageorgou, Polyxeni Gourzi, Gerassimos Mantzaris, Malena Pantou, Ioannis Papaconstantinou

Open access · greenAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Medical archives (Sarajevo, Bosnia and Herzegovina), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 46% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. When the heart and hands tell a story: an intriguing case of Holt-Oram syndrome.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2024
    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

7 authors at 2 institutions in 1 country.

Panagiotis-Theofanis ArkoumanisSecond Department of Surgery, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Antonios GklavasSecond Department of Surgery, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Margarita KarageorgouSecond Department of Surgery, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Polyxeni GourziMolecular Immunopathology and Histocompatibility Laboratory, Onassis Cardiac Surgery Center, Athens, Greece.
Gerassimos MantzarisDepartment of Gastroenterology, 'Evangelismos-Ophthalmiatreion Athinon-Polycliniki' Hospitals, Athens, Greece.
Malena PantouMolecular Immunopathology and Histocompatibility Laboratory, Onassis Cardiac Surgery Center, Athens, Greece.
Ioannis PapaconstantinouSecond Department of Surgery, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
National and Kapodistrian University of Athens · GROnassis Cardiac Surgery Center · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHolt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. CASE REPORT: We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease.

conclusionTo the best of our knowledge association of Holt-Oram syndrome with Crohn's disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohn's disease remains to be determined.

Indexed as

Abnormalities, MultipleAdultCrohn DiseaseFemaleHeart Defects, CongenitalHeart Septal Defects, AtrialHumansLower Extremity Deformities, CongenitalRare DiseasesTreatment OutcomeUpper Extremity Deformities, CongenitalCardiac-limb syndromeCrohn’s diseaseHolt-Oram syndrome

Identifiers

PMID30514998
PMCPMC6194948
OpenAlexW2887581717

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.