Evidence map›Paper›PMID 35735786›Full record

ArticleJournal of clinical research in pediatric endocrinology2023

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the

Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Özbek

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

Article in Journal of clinical research in pediatric endocrinology, 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
0.4field-weighted citation impact, top 42% 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, 5 citations in OpenAlex.

  1. Review
  2. Navigating Lipodystrophy: Insights from Laminopathies and Beyond.International journal of molecular sciences · 2024
    Review
  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

7 authors at 5 institutions in 1 country.

Şervan ÖzalkakGazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0002-1557-6040
Meliha DemiralBalıkesir City Hospital, Clinic of Pediatric Endocrinology, Balıkesir, TurkeyORCID 0000-0002-0535-4954
Edip ÜnalDicle University Faculty of Medicine, Department of Paediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0002-9809-0977
Funda Feryal TaşGazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0003-2438-0602
Hüseyin OnayMultigen Genetic Diseases Diagnosis Center, Department of Medical Genetics, İzmir TurkeyORCID 0000-0002-0584-8866
Hüseyin DemirbilekHacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, TurkeyORCID 0000-0001-6374-5884
Mehmet Nuri ÖzbekGazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0002-3203-741X
Diyarbakır Gazi Yaşargil Eğitim ve Araştırma Hastanesi · TRBalıkesir University · TRDicle University · TRHacettepe University · TRIntergen (Turkey) · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. We present successful treatment with metreleptin in a boy with CGL and results from the first year of follow-up. An eight-month-old boy presented with excessive hair growth and a muscular appearance. On examination he had hypertrichosis, decreased subcutaneous adipose tissue over the whole body and hepatomegaly. Laboratory investigations revealed hypertriglyceridemia, hyperinsulinemia, elevated liver transaminases and low leptin levels. Molecular genetic analysis detected a homozygous, c.465_468delGACT (p.T156Rfs*8) mutation in the

Indexed as

GTP-Binding Protein gamma SubunitsHyperinsulinismHypertriglyceridemiaLipodystrophy, Congenital GeneralizedChildHumansHyperphagiaInfantLeptinMaleMutationQuality of LifeBSCL2 protein, humanGTP-Binding Protein gamma SubunitsLeptinmetreleptinBSCL2 geneCongenital generalized lipodystrophymetreleptin treatment

Identifiers

PMID35735786
PMCPMC10448557
OpenAlexW4283333353

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.