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| http://dx.doi.org/10.25259/SNI_268_2022 | DOI Listing |
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Safety Analysis of Visual Percutaneous Tracheostomy in Neurocritical Care Patients with Anticoagulation and Antithrombosis.
Neurocrit Care
January 2025
Neurological Intensive Care Unit, Tai'an Central Hospital Affiliated to Qingdao University, Tai'an, 271000, Shandong, China.
Background: This study aims to evaluate the safety of visual percutaneous tracheostomy (vPDT) in neurologic intensive care unit (NICU) patients who are under anticoagulant and antithrombotic therapy.
Methods: A retrospective cohort study was conducted on 54 NICU patients who underwent vPDT at Tai'an Central Hospital from September 2022 to September 2023. The cohort included 36 men and 18 women aged 36-90 years (mean age 62.
Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.
Nat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFDiscovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Am J Hum Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDFHealthcare-seeking delays and associated factors among immigrant patients with acute ischaemic stroke in Shenzhen: a retrospective observational study.
BMJ Open
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Department of Neurology, The People's Hospital of Longhua, Shenzhen, Guangdong, China.
Objective: To examine healthcare-seeking delays among immigrant patients with acute ischaemic stroke (AIS), identifying key factors contributing to these delays and proposing evidence-based interventions for policy formulation and research.
Design: A retrospective observational study analysing healthcare-seeking behaviours and delay times among immigrant patients with AIS treated at the Department of Neurology, Longhua District People's Hospital, Shenzhen, from December 2021 to October 2023. The study included 1356 patients with AIS, all part of the immigrant population as defined by Shenzhen Statistical Yearbook criteria.
Prognostic models for depression and post-traumatic stress disorder symptoms following traumatic brain injury: a CENTER-TBI study.
BMJ Ment Health
January 2025
Department of Biomedical Data Sciences, Leiden University Medical Centre, Leiden, The Netherlands.
Background: Traumatic brain injury (TBI) is associated with an increased risk of major depressive disorder (MDD) and post-traumatic stress disorder (PTSD). We aimed to identify predictors and develop models for the prediction of depression and PTSD symptoms at 6 months post-TBI.
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