Evidence map›Paper›PMID 38715652›Full record

ArticleNeurology. Genetics2024

A Novel

Yujie Lai, Yuanye Ma, Biao Luo, Yan Long

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Yujie LaiFrom the Department of Neurology and Center for Clinical Neuroscience (Y. Lai, Y.M., B.L.); and Department of Health Management (Y. Long), Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
Yuanye MaFrom the Department of Neurology and Center for Clinical Neuroscience (Y. Lai, Y.M., B.L.); and Department of Health Management (Y. Long), Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
Biao LuoFrom the Department of Neurology and Center for Clinical Neuroscience (Y. Lai, Y.M., B.L.); and Department of Health Management (Y. Long), Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
Yan LongFrom the Department of Neurology and Center for Clinical Neuroscience (Y. Lai, Y.M., B.L.); and Department of Health Management (Y. Long), Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, China.ORCID https://orcid.org/0000-0003-2461-9425

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Tuberous sclerosis complex (TSC) is a genetic disorder caused by a Methods: We report a case of a patient with TSC who presented with broad clinical manifestations, including epilepsy. Results: An 18-year-old man was diagnosed with recurrent drug-resistant epilepsy. Neuroimaging revealed bilateral cortical and subcortical tubers with multiple calcified subependymal nodules. His skin involvement and psychomotor retardation raised the suspicion of TSC. Genetic testing confirmed the diagnosis, and a combined treatment including mTOR inhibitors was initiated. Discussion: TSC, although considered rare, needs to be considered when evaluating patients with broad clinical manifestations. Our report has significant implications for understanding the impact of genotype on the prognosis of TSC and the selection of treatment strategies for TSC-related refractory epilepsy.

Identifiers

PMID38715652
PMCPMC11073876

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.