Evidence map›Paper›PMID 36788827›Full record

ArticleCureus2023

The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1.

Fernando Albuquerque, Deolinda Cunha, Ana C Rodrigues, Rita Nunes, Filipe G Fernandes, Teresa Pipa, Ana Marques, Carla Moreira

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 49% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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 1 institution in 1 country.

Fernando AlbuquerqueFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Deolinda CunhaFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Ana C RodriguesFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Rita NunesFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Filipe G FernandesFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Teresa PipaFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Ana MarquesFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Carla MoreiraFamily and Community Medicine, Unidade de Saúde Familiar (USF) Lusitana, Viseu, PRT.
Associação Saúde da Família · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot-Marie-Tooth (CMT) is a hereditary motor and sensory neuropathy. The disease consists of a spectrum of inherited disorders caused by pathogenic variants in genes, which lead to multiple different clinical phenotypes. It is one of the most common inherited neuromuscular disorders. This disease most commonly presents with symptoms of distal weakness and muscular atrophy, which then lead to foot drop and pés cavus. In this article, we describe the case of a patient who developed muscle atrophy and distal weakness over the course of his 52 years of life, leading to gait impairment and foot deformities. Subsequent investigation led to the acknowledgment of chronic axonal sensorimotor polyneuropathy and genetic identification of the disease's genotype, CMT type 1. .

Indexed as

charcot-marie-toothcongenitaldemyelinating diseasesgene expressiongenetic mutationneurologypés cavussensorimotor neuropathy

Identifiers

PMID36788827
PMCPMC9922377
OpenAlexW4316039946

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.