Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Introduction: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition with a broad phenotypic presentation. This study aims to establish the first Australian cohort of individuals affected by CADASIL (AusCADASIL) and examine its clinical features and longitudinal course, and to investigate neuroimaging and blood biomarkers to assist in early diagnosis and identify disease progression.
Methods: Participants will be recruited from six study centres across Australia for an observational study of CADASIL. We aim to recruit 150 participants with diagnosed CADASIL, family history of CADASIL or suspected CADASIL symptoms, and 150 cognitively normal negative individuals as controls. Participants will complete: 1) online questionnaires on medical and family history, mental health, and wellbeing; 2) neuropsychological evaluation; 3) neurological examination and brain MRI; 4) ocular examination and 5) blood sample donation. Participants will have annual follow-up for 4 years to assess their progression and will be asked to invite a study partner to corroborate their self-reported cognitive and functional abilities.Primary outcomes include cognitive function and neuroimaging abnormalities. Secondary outcomes include investigation of genetics and blood and ocular biomarkers. Data from the cohort will contribute to an international consortium, and cohort participants will be invited to access future treatment/health intervention trials.
Discussion: AusCADASIL will be the first study of an Australian cohort of individuals with CADASIL. The study will identify common pathogenic variants in this cohort, and characterise the pattern of clinical presentation and longitudinal progression, including imaging features, blood and ocular biomarkers and cognitive profile.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11152887 | PMC |
| http://dx.doi.org/10.1016/j.cccb.2024.100225 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An international prognostic index to predict the early chemoimmunotherapy failure of diffuse large B-cell lymphoma.
Ann Hematol
September 2025
Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Approximately 30-40% of diffuse large B-cell lymphoma (DLBCL) patients will develop relapse/refractory disease, who may benefit from novel therapies, such as CAR-T cell therapy. Thus, accurate identification of individuals at high risk of early chemoimmunotherapy failure (ECF) is crucial. Methods.
View Article and Find Full Text PDFTeaching critical histories of microbiology: two case studies.
J Microbiol Biol Educ
September 2025
Department of History and Nelson Institute of Environmental Studies, University of Wisconsin-Madison, Madison, Wisconsin, USA.
In recent years, microbiologists have emphasized the importance of understanding the historical relation between microbiomes and public health as a means of contributing to social equity. Consistent with critical engaged and anti-racist pedagogical practices, we developed a curricular intervention--that centers critical histories of science as means to educate scientists about how science has contributed to and replicated inequities in society. Here, we describe two case studies that our interdisciplinary team designed, implemented, and assessed specifically for a module on the history of microbiology.
View Article and Find Full Text PDFBarriers and opportunities for a complementary medicine advisory network in pediatric oncology: perspectives from german experts.
Pediatr Hematol Oncol
September 2025
Department of Pediatrics, Gemeinschaftskrankenhaus Herdecke, Herdecke, Germany.
Complementary medicine (CM) is commonly used by parents of pediatric cancer patients alongside conventional treatment, yet pediatric oncologists often feel inadequately trained to advise on CM. A collaborative project led by Gemeinschaftskrankenhaus Herdecke, integrated into inpatient pediatric cancer care in four centers in Germany in the Rhine-Ruhr Region, provides CM consultations and training for pediatric oncology teams. This study aimed to identify barriers perceived by healthcare professionals regarding the implementation of a CM advisory network for parents and assess their training needs.
View Article and Find Full Text PDFObjectives: Attitudes about alcohol misuse influence help-seeking behaviors. We assessed attitudes among Alaska Native/American Indian (AN/AI) patients, providers, and leaders to inform outreach, prevention, and treatment.
Methods: Participants included a cross-sectional sample of 72 AN/AI providers/leaders and 704 AN/AI adult patients in randomly selected clinics within a tribal health care system.
Anterior-posterior and medial-lateral balance metrics are unchanged when two-dimensional pseudorandom motion perturbations are provided in semicircular canal coordinates.
Front Neurol
August 2025
Otolaryngology-Head and Neck Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, United States.
Introduction: External continuous perturbations using a motion platform have been developed by employing either sum-of-sines (SoS) or a pseudorandom ternary sequence (PRTS) of numbers to quantify body sway evoked in the medial-lateral (ML) or anterior-posterior (AP) directions, which ultimately helps understand the human postural control system. These stimuli have been provided via pitch tilts of the motion platform for evaluations of AP balance responses or roll tilts for ML balance responses. However, little is known about whether a healthy postural control system responds to 2-dimensional (2D) perturbations similarly when the perturbation stimuli are provided in semicircular canal coordinates (i.
View Article and Find Full Text PDF