Evidence map›Paper›PMID 39634246›Full record

ArticleMolecular syndromology2024

Screening for

Bayoumi A Emam, Mohamed S Abdel-Hamid, Maha Eid, Marian Girgis, Omar A Ragab, Maha S Zaki, Hassan El-Kiki, Sawsan Abdel-Hady, Ghada M H Abdel-Salam

Abstract read
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In one paragraph

Article in Molecular syndromology, 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

9 authors.

Bayoumi A EmamDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Mohamed S Abdel-HamidMedical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Maha EidMedical Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Marian GirgisPediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Omar A RagabNeurosurgery Department, Faculty of Medicine, Beni Suef University, Beni Suef, Egypt.
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Hassan El-KikiRadiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Sawsan Abdel-HadyPediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Ghada M H Abdel-SalamDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pontocerebellar hypoplasia (PCH) represents a group of rare disorders with prenatal onset and time-dependent loss of brain parenchyma, predominantly affecting the cerebellum and pons with variable involvement of supratentorial structures. Radiologically and pathologically, they are characterized by small cerebellum and pons. Our study aimed to screen for the Methods: Thirty patients from thirty Egyptian families with a diagnosis of PCH based on neuroimaging findings were selected. Clinical evaluation, radiological findings, and genetic investigations were done for all patients. Results: The common missense variant c.919G>T (p.A307S) was identified in only 6 patients from six unrelated families (6/30; 20%) who showed different degrees of pontocerebellar malformations on brain imaging. Conclusion: The presence of a dragonfly/butterfly-like pattern in the coronal section of the cerebellum recommends genetic testing of

Indexed as

DragonflyMicrocephalyPontocerebellar hypoplasiaSeizuresTSEN54

Identifiers

PMID39634246
PMCPMC11614434

What OpenQuestion holds

Textmetadata
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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.