GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease
    BMJ ; 2022
    In:  Stroke and Vascular Neurology Vol. 7, No. 3 ( 2022-06), p. 182-189
    Details
    In: Stroke and Vascular Neurology, BMJ, Vol. 7, No. 3 ( 2022-06), p. 182-189
    Abstract: The predisposition of intracranial atherosclerotic disease (ICAD) to East Asians over Caucasians infers a genetic basis which, however, remains largely unknown. Higher prevalence of vascular risk factors (VRFs) in Chinese over Caucasian patients who had a stroke, and shared risk factors of ICAD with other stroke subtypes indicate genes related to VRFs and/or other stroke subtypes may also contribute to ICAD. Methods Unrelated symptomatic patients with ICAD were recruited for genome sequencing (GS, 60-fold). Rare and potentially deleterious single-nucleotide variants (SNVs) and small insertions/deletions (InDels) were detected in genome-wide and correlated to genes related to VRFs and/or other stroke subtypes. Rare aneuploidies, copy number variants (CNVs) and chromosomal structural rearrangements were also investigated. Lastly, candidate genes were used for pathway and gene ontology enrichment analysis. Results Among 92 patients (mean age at stroke onset 61.0±9.3 years), GS identified likely ICAD-associated rare genomic variants in 54.3% (50/92) of patients. Forty-eight patients (52.2%, 48/92) had 59 rare SNVs/InDels reported or predicted to be deleterious in genes related to VRFs and/or other stroke subtypes. None of the 59 rare variants were identified in local subjects without ICAD (n=126). 31 SNVs/InDels were related to conventional VRFs, and 28 were discovered in genes related to other stroke subtypes. Our study also showed that rare CNVs (n=7) and structural rearrangement (a balanced translocation) were potentially related to ICAD in 8.7% (8/92) of patients. Lastly, candidate genes were significantly enriched in pathways related to lipoprotein metabolism and cellular lipid catabolic process. Conclusions Our GS study suggests a role of rare genomic variants with various variant types contributing to the development of ICAD in Chinese patients.
    Type of Medium: Online Resource
    ISSN: 2059-8688 , 2059-8696
    URL: Article
    DOI: 10.1136/svn-2021-001157
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2847692-X
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Neostigmine for the treatment of acute pancreatitis: a protocol for a systematic review and meta-analysis
    BMJ ; 2023
    In:  BMJ Open Vol. 13, No. 3 ( 2023-03), p. e070289-
    Details
    In: BMJ Open, BMJ, Vol. 13, No. 3 ( 2023-03), p. e070289-
    Abstract: Acute pancreatitis (AP) is a common disease with substantial mortality. Gut dysfunction may result in abdominal compartment syndrome (ACS) and delay enteral nutrition, worsening AP condition. Neostigmine is used as a prokinetic drug for the treatment of AP. But there are no recommendations from guidelines due to the lack of evidence. Therefore, we plan to conduct a systematic review and meta-analysis to explore the efficacy and safety of neostigmine for AP, aiming to provide current evidence for clinical practice. Methods and analysis We prepared this protocol following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols. We will search the Cochrane Central Register of Controlled Trials, MEDLINE, EMBASE, China National Knowledge Infrastructure, Chinese Biomedical Literature Database, Wanfang, conference proceedings and ongoing trials registers for eligible studies comparing neostigmine plus conventional therapy with conventional therapy. Primary outcomes include new-onset ACS and serious adverse events caused by neostigmine. Evaluation of the risk of bias, heterogeneity and quality of evidence will follow recommendations of the Cochrane Handbook for Systematic Reviews of Interventions. Trial sequential analysis will be used to control the risk of random errors and assess conclusions in the meta-analysis. Ethics and dissemination Ethics approval is unnecessary as the systematic review is based on published studies. Study findings will be published in a peer-reviewed journal. PROSPERO registration number CRD42022369536.
    Type of Medium: Online Resource
    ISSN: 2044-6055 , 2044-6055
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.1136/bmjopen-2022-070289
    DOI: 10.1136/bmjopen-2022-070289.supp1
    DOI: 10.1136/bmjopen-2022-070289.supp2
    Language: English
    Publisher: BMJ
    Publication Date: 2023
    detail.hit.zdb_id: 2599832-8
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Diffusing capacity of lungs for carbon monoxide associated with subclinical myocardial impairment in systemic sclerosis: A cardiac MR study
    BMJ ; 2023
    In:  RMD Open Vol. 9, No. 4 ( 2023-12), p. e003391-
    Details
    In: RMD Open, BMJ, Vol. 9, No. 4 ( 2023-12), p. e003391-
    Abstract: Systemic sclerosis (SSc) is characterised by microvascular and fibrotic lesions, which are located not only in skin but also in lungs and heart. Objective This study aimed to investigate the association between lung function and myocardial T1 values using cardiac MR (CMR) imaging in patients with SSc without cardiovascular symptoms. Methods The SSc patients and age- and sex-matched healthy subjects underwent CMR. The cardiac function and native T1 values of myocardium and lung function were measured. Spearman’s rank correlations and linear regression analyses were performed to determine the association between lung function and myocardial T1. Results Forty-five SSc patients (aged 47.7±13.2 years, 40 females) and 23 (aged 46.0±14.4 years, 20 females) healthy subjects were enrolled. SSc patients exhibited considerably higher native T1 values compared with healthy subjects (1305.9±49.8 ms vs 1272.6±37.6 ms, p=0.006). Linear regression analysis revealed that decrease of diffusing capacity of lungs for carbon monoxide (DLCO) in SSc patients was notably associated with myocardial native T1 value before (β –1.017; 95% CI –1.883 to –0.151; p=0.022) and after adjusting for confounding factors (β –1.108; 95% CI −2.053 to –0.164; p=0.023). Moderate-to-severe decrease of DLCO was found to be significantly associated with myocardial native T1 value (β 48.006; 95% CI 17.822 to 78.190; p=0.003) after adjusting for confounding factors. Conclusion DLCO inversely correlates with myocardial native T1 values in SSc patients, particularly moderate-to-severely decreased DLCO, suggesting that DLCO might be a potential indicator for subclinical myocardial impairment in SSc patients.
    Type of Medium: Online Resource
    ISSN: 2056-5933
    URL: Article
    DOI: 10.1136/rmdopen-2023-003391
    Language: English
    Publisher: BMJ
    Publication Date: 2023
    detail.hit.zdb_id: 2812592-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...