Familial occurrence and heritable connective tissue disorders in cervical artery dissection

In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders.We combined data from 2 large international multicenter cohorts of consecutive patients with CeAD in 23 neurologic departments participating in the CADISP-plus consortium, following a standardized protocol. Frequency of reported family history of CeAD and of inherited connective tissue disorders was assessed. Putative risk factors, baseline features, and 3-month outcome were compared between groups.Among 1,934 consecutive patients with CeAD, 20 patients (1.0%, 95% confidence interval: 0.6%-1.5%) from 17 families (0.9%, 0.5%-1.3%) had a family history of CeAD. Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. Two patients without a family history of CeAD had vascular Ehlers-Danlos syndrome with a mutation in COL3A1. This diagnosis was suspected in 2 additional patients, but COL3A1 sequencing was negative. Two patients were diagnosed with classic and hypermobile Ehlers-Danlos syndrome, one patient with Marfan syndrome, and one with osteogenesis imperfecta, based on clinical criteria only.In this largest series of patients with CeAD to date, family history of symptomatic CeAD was rare and inherited connective tissue disorders seemed exceptional. This finding supports the notion that CeAD is a multifactorial disease in the vast majority of cases.

section_content: und für die Berichterstattung an die Fakultäten der Universität und den Kanton Bern verwendet. (if necessary after consultation with the submitters, cf. below, 6. 4). Members of the Editorial Board are appointed by the Open Science Team of the University Library of Bern. 

• Roles of researchers: Submitters can pick the roles of researchers whose work they submit to BORIS Portal. A role is a combination of name, institute/department, and duration of employment. The role of a researcher is necessary to unambiguously identify contributors to research outputs. • Eligibility: authorization on a technical level to perform certain actions in BORIS Portal (e. g., submit or review items). The eligibility criteria are determined by the Open Science Team of the University Library of Bern. On a technical level, the system administrator can authorizes users (granting of rights). • Open -The datasets are accessible without restrictions and can be downloaded. 

• Embargo -The records are freely accessible after the expiration of an embargo period. The embargo end date is determined by the submitter. 

• Restricted -Access to records must be requested from a contact person. 

• Closed -Records cannot be uploaded to the repository but metadata can be entered. 

• Metadata Only -If data are already uploaded to another repository, the metadata on BORIS Portal can be used to verify the existence of the dataset.

section_content: Reasons to restrict access to records may include legal or ethical constraints, contractual obligation, or other compelling reasons.
section_name: Access restriction for datasets

section_content: Interested persons may request access to datasets that are under embargo, restricted or closed access. Such requests will be forwarded to the contact person that was designated when the dataset was submitted. The contact person can then grant or deny access. Submitters can specify terms of access by means of a Data Transfer Agreement (DTA).
section_name: Access to records on request

section_content: • BORIS Portal offers standard licenses for datasets. Depending on the content type, submitters can add other licenses as needed. • Should the submitter choose "restricted" or "closed" access, there is no dataset license to select. In this case, a Data Transfer Agreement (DTA) can regulate access. • Supplementary materials and Data Transfer Agreements in BORIS Portal are public domain (CC0), publicly accessible and downloadable. 5. 5. If not stated otherwise, content from BORIS Portal should be cited appropriately for subsequent use and reuse, at least by indicating author, title, date, repository (BORIS Portal), DOI. 

6. Submission 6. 1. Only designated members (including scientific staff) of the University of Bern or their authorized representatives can submit documents and metadata to BORIS Portal. 6. 2. The quality, validity, and authenticity of BORIS Portal content are the sole responsibility of the submitter. 6. 3. The compliance of content shared on BORIS Portal with legal, ethical, and similar regulations and requirements is the sole responsibility of the submitter. 6. 4. BORIS Portal editorial staff check submissions only for the authorization of the author/submitter, valid layout and format, and ensures the exclusion of content that is not relevant to the scope of BORIS Portal or that is inappropriate (spam). 6. 5. After review (and if necessary after consultation with the submitters), the BORIS portal editorial team publishes the entered metadata and makes the content accessible according to the access type chosen by the submitter. 

7. Storage and availability 7. 1. Metadata will be retained for the operational life of BORIS Portal. Should BORIS Portal cease operation, all metadata and content will be transferred to another repository. 7. 2. Submitted items will be retained for a minimum of 10 years. 7. 3. File formats may be converted if necessary to preserve the readability of files. 7. 4. It may not be possible to preserve the readability of files. BORIS Portal reserves the right to work with external partners to convert or migrate file formats, to use software emulations for old file formats, and/or to store metadata for preservation purposes. 7. 5. The content of the repository is regularly backed up by the university's IT services according to current best practice. 

8. Withdrawal of published items 8. 1. Published items may be withdrawn only for compelling reasons. Reasons for withdrawal are:

• Proven copyright infringement or plagiarism;

• Legal provisions or their violation; • National security;

• Falsified research. 

If BORIS Portal receives proof that one of these reasons applies, the corresponding item will be removed as soon as possible. BORIS Portal does not assume any responsibility for breaches of law in the aforementioned sense (see section 3. 2) by uploaded content. 8. 2. Withdrawn items may not be deleted, but will be withdrawn from public visibility. They may be retained for verification purposes. 8. 3. Withdrawn items may be deleted completely in case of legal violations. 8. 4. Digital Object Identifiers (DOIs) of withdrawn items will continue to be retained for verification purposes. BORIS Portal can then indicate the status of the relevant submissions as "deleted" in harvesting requests. 8. 5. DOIs continue to be forwarded to so-called "tombstone" references that display the metadata of the deleted item. This is done to prevent broken links and to retain item histories. 8. 6. The metadata of withdrawn items will not be searchable or findable. 8. 7. Lists of errors (errata) and corrections (corrigenda) can be added to the original entry as needed. 9. Data of members of the University of Bern, data protection, and confidentiality 9. 1. BORIS Portal processes data about members of the University of Bern. Processing data means in particular storing, linking, disclosing, and deleting data, as necessary for the purposes mentioned in section 2 above. 9. 2. Eligible employees of the university administration have direct access to BORIS Portal. For eligibility, see above, section 0 (definitions). 9. 3. All those involved in the submission or review of metadata and data receive instructions on the confidential and secure handling of the entered information. 9. 4. The following information will be checked against data from the personnel administration system of the University of Bern for the purpose of identification:

1. Name The data under 1-4 can be displayed or viewed publicly. The data under 5 are only visible during submission as well as during review by authorized members of the university administration (see above, 9. 2). The data under 6 are treated as confidential and can only be viewed by authorized members of the university administration. 9. 5. BORIS Portal will also process other data entered. These include:

• Externally provided identifiers such as ORCiD numbers;

• Information on research projects such as participating researchers and organizational units;

• Research project funding information (data submitter can remove this from public visibility);

• Documents that can be uploaded for internal purposes (e. g. project management) of the researchers. These documents will be visible only to the owners as well as to the system administrator, unless the owners grant permission to other persons.
section_name: Licenses

section_content: In accordance with legal provisions, BORIS Portal attaches great importance to the accuracy and timeliness of the stored data. However, BORIS Portal does not guarantee that the stored information is correct, up-to-date, complete, and of adequate quality. BORIS Portal reserves the right to correct or delete information. BORIS Portal shall not be liable for any loss or damage of any kind incurred as a result of accessing, using, or not using the published information. BORIS Portal has not reviewed third party websites, i. e. those that are not on the servers of BORIS Portal or within its sphere of influence, and that are hyperlinked to this website, and assumes no responsibility for their content. 

11. Review of these guidelines These guidelines will be reviewed at least annually. Date of last review: August 18, 2021.
section_name: Disclaimer of warranty and liability