Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) may involve many target organs with relevant variability among affected individuals. We performed a multi-organ assessment tapping nervous system, skeletal muscle and cardiovascular system in thirty-nine individuals belonging to 16 families from Central Italy sharing the same R1006C CADASIL mutation. Stroke prevalence was larger in female patients (66.7%) than in males (23.8%); high levels of CKemia were quite frequent (21.6%) and were related to a myopathy without mitochondrial alterations; several individuals had atrial septal aneurysm (10.3%). No specific relationships between common cardiovascular risk factors and clinical manifestations were found. The present systematic study thus identified several gender-related, myopathic and cardiovascular peculiarities of R1006C mutation. This kind of comprehensive approach is necessary to define clinical course, prognosis and treatment options for a multi-organ disease such as CADASIL.
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http://dx.doi.org/10.1016/j.neulet.2011.10.062 | DOI Listing |
BMC Public Health
December 2024
Upstream Lab, MAP Centre for Urban Health Solutions, Li Ka Shing Knowledge Institute, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Background: Machine learning (ML) is increasingly used in population and public health to support epidemiological studies, surveillance, and evaluation. Our objective was to conduct a scoping review to identify studies that use ML in population health, with a focus on its use in non-communicable diseases (NCDs). We also examine potential algorithmic biases in model design, training, and implementation, as well as efforts to mitigate these biases.
View Article and Find Full Text PDFBMJ Glob Health
December 2024
Department of Immunization, Vaccines, and Biologicals, World Health Organization, Geneva, Switzerland.
Introduction: Home-based records (HBRs) are widely used for recording health information including child immunisations. We studied levels and inequalities in HBR ownership in low-income and middle-income countries (LMICs) using data from national surveys conducted since 2010.
Methods: We used data from national household surveys (Demographic and Health Surveys (DHS) and Multiple Indicator Cluster Surveys (MICS)) from 82 LMICs.
Am J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Clin Nutr
December 2024
Faculty of Sport and Health Sciences, Gerontology Research Center, University of Jyväskylä, 40014 Jyväskylä, Finland; The Wellbeing Services County of Central Finland, 40620 Jyväskylä, Finland. Electronic address:
Background & Aims: Suboptimal diets increase morbidity and mortality risk. Epigenetic clocks are algorithms that can assess health and lifespan, even at a young age, before clinical manifestations of diseases. We investigated the association between dietary patterns and biological aging in young adult twins.
View Article and Find Full Text PDFChild Abuse Negl
December 2024
Department of Functional Brain Imaging, Institute of Development, Aging and Cancer (IDAC), Tohoku University, 4-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan; Smart-Aging Research Center, IDAC, Tohoku University, 4-1 Seiryo-machi, Aoba-ku, Sendai 980-8575, Japan.
Background: Early intervention may prevent maltreatment during infancy. This study examined the effectiveness of interventions initiated during the perinatal period to prevent child abuse and neglect.
Methods: We searched the MEDLINE, PsycINFO, Embase, and Cochrane Central Register of Controlled Trials databases for articles published before February 2023.
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