Background Familial cerebral cavernous alformation (CCM) is an autosomal dominant disease caused by mutations in , , or . Cases typically present with multiple lesions, strong family history, and neurological symptoms, including seizures, headaches, or other deficits. Intracranial hemorrhage (ICH) is a severe manifestation of CCM, which can lead to death or long-term neurological deficits. Few studies have reported ICH rates and risk factors in familial CCM. We report ICH rates and assess whether CCM lesion burden, a disease severity marker, is associated with risk of symptomatic ICH during follow-up in a well-characterized cohort of familial CCM cases. Methods and Results We studied 386 patients with familial CCM with follow-up data enrolled in the Brain Vascular Malformation Consortium CCM Project. We estimated symptomatic ICH rates overall and stratified by history of ICH before enrollment. CCM lesion burden (total lesion count and large lesion size) assessed at baseline enrollment was tested for association with increased risk of subsequent ICH during follow-up using Cox regression models adjusted for history of ICH before enrollment, age, sex, and family structure and stratified on recruitment site. The symptomatic ICH rate for familial CCM cases was 2.8 per 100 patient-years (95% CI, 1.9-4.1). Those with ICH before enrollment had a follow-up ICH rate of 4.5 per 100 patient-years (95% CI, 2.6-8.1) compared with 2.0 per 100 patient-years (95% CI, 1.3-3.5) in those without (=0.042). Total lesion count was associated with increased risk of ICH during follow-up (hazard ratio [HR], 1.37 per doubling of total lesion count [95% CI, 1.10-1.71], =0.006). The symptomatic ICH rate for familial CCM cases was 2.8 per 100 patient-years (95% CI, 1.9-4.1). Those with ICH before enrollment had a follow-up ICH rate of 4.5 per 100 patient-years (95% CI, 2.6-8.1) compared with 2.0 per 100 patient-years (95% CI, 1.3-3.5) in those without (=0.042). Total lesion count was associated with increased risk of ICH during follow-up (hazard ratio [HR], 1.37 per doubling of total lesion count [95% CI, 1.10-1.71], =0.006). Conclusions Patients with familial CCM with prior history of an ICH event are at higher risk for rehemorrhage during follow-up. In addition, total CCM lesion burden is significantly associated with increased risk of subsequent symptomatic ICH; hence lesion burden may be an important predictor of patient outcome and aid patient risk stratification.
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http://dx.doi.org/10.1161/JAHA.122.027572 | DOI Listing |
Mod Pathol
January 2025
Department of Pathology, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, The Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address:
Pancreatic ductal adenocarcinoma (PDAC) is a lethal disease. About 10% of affected individuals have an inherited component. Deleterious germline variants increase the lifetime risk for PDAC and are often associated with an elevated risk for extra-pancreatic malignancies.
View Article and Find Full Text PDFNutrients
December 2024
Faculty of Food Technology and Biotechnology, University of Zagreb, Pierottijeva 6, 10000 Zagreb, Croatia.
Background: Since the gut microbiota is important for athlete health and performance, its optimization is increasingly gaining attention in sports nutrition, for example, with whole fermented foods. Sauerkraut is a traditional fermented food rich in pro-, pre-, and postbiotics, which has not yet been investigated in the field of sports nutrition.
Methods: To determine whether sauerkraut could be used for gut microbiota optimization in sports nutrition, a proof-of-concept study was conducted.
J Intensive Care
December 2024
Intensive Care Unit, Institute of Science Tokyo Hospital, 1-5-45 Yushima Bunkyo-Ku, Tokyo, 113-8510, Japan.
Background: Experiencing a loved one's stay in the intensive care unit (ICU) can profoundly affect families, often leading to post-intensive care syndrome-family (PICS-F), a condition particularly exacerbated during the COVID-19 pandemic. While PICS-F significantly impacts the mental health of families of ICU patients, especially in the context of COVID-19, the long-term effects beyond 12 months remain understudied. This study aims to explore the prevalence of PTSD-related symptoms and health-related quality of life (HRQOL) in family members up to 18 months after ICU discharge.
View Article and Find Full Text PDFAm J Health Syst Pharm
December 2024
Department of Pharmacy, West Palm Beach VA Healthcare System, West Palm Beach, FL, USA.
Disclaimer: In an effort to expedite the publication of articles, AJHP is posting manuscripts online as soon as possible after acceptance. Accepted manuscripts have been peer-reviewed and copyedited, but are posted online before technical formatting and author proofing. These manuscripts are not the final version of record and will be replaced with the final article (formatted per AJHP style and proofed by the authors) at a later time.
View Article and Find Full Text PDFSports Med
December 2024
Department of Sport, Exercise and Rehabilitation, Northumbria University, Newcastle Upon Tyne, UK.
Background: To combat the high prevalence of physical inactivity among children, there is an urgent need to develop and implement real-world interventions and policies that promote physical activity (PA) and reduce sedentary behaviour (SB). To inform policy makers, the current body of evidence for children's PA/SB interventions needs to be translated.
Objectives: The current systematic review and meta-analysis aimed to identify modifiable determinants of device-measured PA and SB targeted in available intervention studies with randomized controlled trial (RCT) and controlled trial (CT) designs in children and early adolescents (5-12 years) and to quantify the effects of the interventions within their respective settings on the determinants of PA/SB and the outcomes PA and SB.
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