Evidence map›Paper›PMID 37711552›Full record

ArticleFrontiers in cardiovascular medicine2023

Case Report: A rare homozygous patient affected by

Emanuele Micaglio, Gloria Santangelo, Silvia Moscardelli, Daniela Rusconi, Francesco Musca, Alessandro Verde, Laura Campiglio, Francesca Bursi, Marco Guazzi

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cardiovascular medicine, 2023. 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

9 authors.

Emanuele MicaglioArrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, Milan, Italy.
Gloria SantangeloDivision of Cardiology, Department of Health Sciences, San Paolo Hospital, University of Milan, Milan, Italy.
Silvia MoscardelliDivision of Cardiology, Department of Health Sciences, San Paolo Hospital, University of Milan, Milan, Italy.
Daniela RusconiPathological Anatomy, Cytogenetics, Molecular Pathology, San Paolo Hospital, ASST Santi Paolo and Carlo, Milan, Italy.
Francesco MuscaUO Cardiologia 4, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
Alessandro VerdeUO Cardiologia 4, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
Laura CampiglioClinical Neurology Unit, ASST Santi Paolo e Carlo, Department of Neuroscience, University of Milan, Milan, Italy.
Francesca BursiClinical Neurology Unit, ASST Santi Paolo e Carlo, Department of Neuroscience, University of Milan, Milan, Italy.
Marco GuazziClinical Neurology Unit, ASST Santi Paolo e Carlo, Department of Neuroscience, University of Milan, Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.

Indexed as

atrial fibrillationhereditary transthyretin amyloidosis cardiomyopathyhomozygous variantstrokeVal142Ile

Identifiers

PMID37711552
PMCPMC10497760

What OpenQuestion holds

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Registered trials

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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.