Evidence map›Paper›PMID 35851401›Full record

ArticleCerebral cortex (New York, N.Y. : 1991)2023

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.

Hanya M Qureshi, Kedous Y Mekbib, Garrett Allington, Aladine A Elsamadicy, Phan Q Duy, Adam J Kundishora, Sheng Chih Jin, Kristopher T Kahle

Open access · greenAbstract read
In one paragraph

Article in Cerebral cortex (New York, N.Y. : 1991), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
5.3field-weighted citation impact, top 4% 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

6 citing papers in PubMed, 16 citations in OpenAlex.

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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.

Hanya M QureshiDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Kedous Y MekbibDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Garrett AllingtonDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, United States.ORCID 0000-0002-5458-6129
Aladine A ElsamadicyDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Phan Q DuyDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Adam J KundishoraDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Sheng Chih JinDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, United States.
Kristopher T KahleDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Yale University · USHarvard University · USBroad Institute · USWashington University in St. Louis · US

Funding

Integrative Genomic Analysis of Congenital Heart DiseaseR00HL143036 · NHLBI · WASHINGTON UNIVERSITY · PI JIN, SHENG CHIH · 2020 to 2022
$730k
NHLBI NIH HHS R00 HL143036
6 · The paper itself

Abstract

Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients.

Indexed as

Arachnoid CystsMagnetic Resonance ImagingAgenesis of Corpus CallosumBrainHumansSyndromearachnoid cystgenomicsmultiomicsneurodevelopmental disorderswhole-exome sequencing

Identifiers

PMID35851401
PMCPMC10388392
OpenAlexW4285803447

What Socratic holds

Textmetadata
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 Socratic graph.