Evidence map›Paper›PMID 27034144›Full record

ArticleCancer research and treatment2016

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.

Alfonso Massimiliano Ferrara, Monica Sciacco, Stefania Zovato, Silvia Rizzati, Irene Colombo, Francesca Boaretto, Maurizio Moggio, Giuseppe Opocher

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

Article in Cancer research and treatment, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 33% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. The Cross-Link between Ferroptosis and Kidney Diseases.Oxidative medicine and cellular longevity · 2021
    Review
  5. 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

8 authors at 4 institutions in 1 country.

Alfonso Massimiliano FerraraFamilial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Monica SciaccoNeuromuscular and Rare Disease Unit, Dino Ferrari Centre, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Stefania ZovatoFamilial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Silvia RizzatiFamilial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Irene ColomboNeuromuscular and Rare Disease Unit, Dino Ferrari Centre, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Francesca BoarettoFamilial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Maurizio MoggioNeuromuscular and Rare Disease Unit, Dino Ferrari Centre, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Giuseppe OpocherFamilial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Istituto Oncologico Veneto · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITUniversity of Milan · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. Rhabdomyolytic episodes may be complicated by life-threatening events, including acute renal failure (ARF). We report on a male patient who was tested, at 10 years of age, for VHL disease because of family history of VHL. He was diagnosed with VHL but without VHL-related manifestation at the time of diagnosis. During childhood, the patient was hospitalized several times for diffuse muscular pain, muscle weakness, and dark urine. These recurrent attacks of rhabdomyolysis were never accompanied by ARF. The patient was found to be homozygous for the mutation p.S113L of the

Indexed as

Carnitine O-PalmitoyltransferaseChildHomozygoteHumansMaleMetabolism, Inborn ErrorsMutationRenal Insufficiencyvon Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinCarnitine O-PalmitoyltransferaseVon Hippel-Lindau Tumor Suppressor ProteinAcute kidney injuryCarnitine palmitoyltransferase type IINeoplasmsRhabdomyolysisvon Hippel-Lindau disease

Identifiers

PMID27034144
PMCPMC5080814
OpenAlexW2314162539

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.