The indigenous population of the Canary Islands, which colonized the archipelago around the 3 century CE, provides both a window into the past of North Africa and a unique model to explore the effects of insularity. We generate genome-wide data from 40 individuals from the seven islands, dated between the 3-16 centuries CE. Along with components already present in Moroccan Neolithic populations, the Canarian natives show signatures related to Bronze Age expansions in Eurasia and trans-Saharan migrations. The lack of gene flow between islands and constant or decreasing effective population sizes suggest that populations were isolated. While some island populations maintained relatively high genetic diversity, with the only detected bottleneck coinciding with the colonization time, other islands with fewer natural resources show the effects of insularity and isolation. Finally, consistent genetic differentiation between eastern and western islands points to a more complex colonization process than previously thought.
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http://dx.doi.org/10.1038/s41467-023-40198-w | DOI Listing |
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFArthritis Res Ther
December 2024
Department of Rheumatology, Hospital Universitario de Bellvitge. Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.
Objective: To investigate differences in arterial involvement patterns on F-FDG PET-CT between predominant cranial and isolated extracranial phenotypes of giant cell arteritis (GCA).
Methods: A retrospective review of F-FDG PET-CT findings was conducted on 140 patients with confirmed GCA. The patients were divided into two groups: the cranial group, which presented craniofacial ischemic symptoms either at diagnosis or during follow-up, and the isolated extracranial group which never exhibited such manifestations.
J Neuroeng Rehabil
December 2024
Chair of Autonomous Systems and Mechatronics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Wearable robots are often powered by elastic actuators, which can mimic the intrinsic compliance observed in human joints, contributing to safe and seamless interaction. However, due to their increased complexity, when compared to direct drives, elastic actuators are susceptible to faults, which pose significant challenges, potentially compromising user experience and safety during interaction. In this article, we developed a fault-tolerant control strategy for torque assistance in a knee exoskeleton and investigated user experience during a walking task while emulating faults.
View Article and Find Full Text PDFAm J Geriatr Psychiatry
December 2024
HM CINAC (Centro Integral de Neurociencias Abarca Campal) (RFF, CDTP, CGS), Hospital Universitario HM Puerta del Sur, HM Hospitales. Madrid, Spain; Instituto de Investigación Sanitaria HM Hospitales (RFF, CDTP, CGS), Madrid, Spain; Network Center for Biomedical Research on Neurodegenerative Diseases (CIBERNED) (CGS), Instituto Carlos III, Madrid, Spain; University CEU-San Pablo (CGS), Madrid, Spain. Electronic address:
Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor manifestations, including alexithymia. This condition is defined by difficulty in recognizing, articulating, and expressing one's emotional states. In this study, we conducted a systematic review and meta-analysis to compare the prevalence of alexithymia in PD patients and a healthy population, and to identify associated demographic and clinical factors.
View Article and Find Full Text PDFTrends Mol Med
December 2024
Cancer Signaling and Microenvironment Program, Fox Chase Cancer Center, Philadelphia, PA, USA. Electronic address:
Genetic and epigenetic defects of the p53 system have previously been associated with resistance to CDK4/6 inhibitors in women with HR breast cancer. Recent data from Kudo et al. demonstrate that CDK2-targeting agents may offer an effective strategy to circumvent such resistance by enforcing cellular senescence downstream of RBL2 dephosphorylation.
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