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Stroke Genomics and Exit Strategies
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Stroke Genomics and Exit Strategies

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 15 October 2024 | Viewed by 674

Special Issue Editors

Dr. Hiroyuki Ishiyama

E-Mail Website
Guest Editor
Department of Neurology, National Cerebral and Cardiovascular Center, Osaka 564-8565, Japan
Interests: stroke genetics; CADASIL; moyamoya disease; RNF213-related vasculopathy; endovascular therapy
Dr. Tomotaka Tanaka

E-Mail Website
Guest Editor
Department of Neurology, National Cerebral and Cardiovascular Center, Osaka 564-8565, Japan
Interests: stroke; epilepsy; dementia; small vessel diseases; Alzheimer’s disease

Special Issue Information

Dear Colleagues,

The inexorable shift towards personalized medicine, driven by the integration of genomic insights, is shaping the medical landscape. Notably, recent expansive genomic endeavors have unearthed numerous loci intricately linked to strokes, giving rise to the development of polygenic risk models.

Whereas genomic medicine has already found its footing within oncology, driving treatment decisions via genomic analysis, its integration into the realm of stroke management remains an uncharted territory despite these remarkable advancements. Hence, the theme of social implementation emerges as a pivotal pursuit within stroke genomics.

This Special Issue stands as a beacon for publishing cutting-edge research articles and reviews centered explicitly on stroke genomics. We extend a warm invitation to authors to submit their work, particularly those that illuminate exit strategies essential for the integration of genomic medicine in stroke care.

Dr. Hiroyuki Ishiyama
Dr. Tomotaka Tanaka
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • stroke genomics
  • stroke
  • personalized medicine
  • precision medicine
  • exit strategy

Published Papers (1 paper)

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Review

21 pages, 1055 KiB  
Review
Can Hemorrhagic Stroke Genetics Help Forensic Diagnosis in Pediatric Age (<5 Years Old)?
by Biancamaria Treves, Elena Sonnini, Raffaele La Russa, Fabio Del Duca, Alessandro Ghamlouch, Alessandra De Matteis, Claudia Trignano, Juan Antonio Marchal, Esmeralda Carrillo, Gabriele Napoletano and Aniello Maiese
Genes 2024, 15(5), 618; https://doi.org/10.3390/genes15050618 - 13 May 2024
Viewed by 354
Abstract
When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical [...] Read more.
When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD), COL4A1, COL4A2 pathogenic variant, Ehlers–Danlos syndrome (E-D), neurofibromatosis type 1 (Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and Marfan syndrome. In conclusion, this paper provides a comprehensive overview of the genetic disorders that could be tested in children when there is a suspicion of NAHI but an unclear picture. Full article
(This article belongs to the Special Issue Stroke Genomics and Exit Strategies)
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