Evidence map›Paper›PMID 33115520›Full record

ArticleItalian journal of pediatrics2020

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.

Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo, Elvira Favoino, Maria Teresa Loverro, Anna Maria Isdraele Romano, Federica Taurino, Edoardo Di Naro and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Italian journal of pediatrics, 2020. 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 43% 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, 2 citations in OpenAlex.

  1. Review
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

11 authors at 3 institutions in 1 country.

Maurizio DelvecchioDepartment of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children's Hospital, Bari, Italy.
Biagio RaponeDepartment of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, Italy.
Simonetta SimonettiRegional Centre for Neonatal Screening, Children Hospital "Giovanni XXIII", Bari, Italy.
Simona FecarottaDepartment of Translational Medical Sciences, Federico II University, Naples, Italy.
Graziana De CarloDepartment of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, Italy.
Elvira FavoinoDepartment of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", Bari, Italy.
Maria Teresa LoverroDepartment of Interdisciplinary Medicine, School of Medicine, University of Bari "Aldo Moro", Bari, Italy.
Anna Maria Isdraele RomanoDepartment of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, Italy.
Federica TaurinoDepartment of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, Italy.
Edoardo Di NaroDepartment of Interdisciplinary Medicine, School of Medicine, University of Bari "Aldo Moro", Bari, Italy.
Antonio GnoniDepartment of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, Italy. antonio.gnoni@uniba.it.ORCID http://orcid.org/0000-0001-5071-611X
University of Bari Aldo Moro · ITOspedale Pediatrico Giovanni XXIII · ITFederico II University Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSmith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-dehydrocholesterol. Inhibitory factor 1 (IF CASE PRESENTATION: The patients showed a typical phenotype. They started dietary supplementation with cholesterol when 2 months old. The cholesterol intake was periodically titrated on the basis of weight increase and the twin 1 required a larger supplementation than the twin 2 during the follow-up. When 6.4-year-old, they underwent IF

conclusionsWe report, for the first time, the presence of circulating IF

Indexed as

Twins, DizygoticATPase Inhibitory ProteinCholesterol, DietaryFemaleHumansInfantMaleProteinsSmith-Lemli-Opitz SyndromeATPase Inhibitory ProteinCholesterol, DietaryProteinsCase reportCholesterolInhibitory factor 1LipidsSmith-Lemli-Opitz syndrome

Identifiers

PMID33115520
PMCPMC7594264
OpenAlexW3096958210

What OpenQuestion holds

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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.