Evidence map›Paper›PMID 30123278›Full record

ArticleCase reports in medicine2018

8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report.

Antonella Gagliano, Erica Pironti, Francesca Cucinotta, Cecilia Galati, Roberta Maggio, Maria Ausilia Alquino, Gabriella Di Rosa

Abstract readCase Reports
In one paragraph

Article in Case reports in medicine, 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
–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

1 citing paper in PubMed.

  1. 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.

Antonella GaglianoDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.ORCID 0000-0001-6749-7259
Erica PirontiDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.
Francesca CucinottaDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.
Cecilia GalatiDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.
Roberta MaggioDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.
Maria Ausilia AlquinoDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.
Gabriella Di RosaDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.

Identifiers

PMID30123278
PMCPMC6079567

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