1,430 results match your criteria: "Cyprus Institute[Affiliation]"

Background: The aim of this study was to determine the efficacy of the number of carotid and common femoral bifurcations with plaque (NBP) detected by ultrasound in reclassifying atherosclerotic cardiovascular disease (ASCVD) risk obtained from SCORE algorithms. Data from the cohort of 1000 individuals free from ASCVD in the Cyprus Epidemiological Study on Atherosclerosis was used.

Methods: In each predicted ASCVD risk class (low, moderate, high) based on SCORE algorithms and baseline data, the observed 10-year risk of subgroups according to the NBP was used to reclassify participants.

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The Mediterranean region has long been identified as a climate change hotspot. However, within the Mediterranean, there are smaller sub-areas that exhibit a higher risk of climate change and extremes. Previous research has often focused on indices based on mean climate values, yet extremes are typically more impactful on humans and ecosystems.

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Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure (BMF) syndrome characterized by erythroid aplasia, congenital malformations, and cancer predisposition. With its genetic heterogeneity, variable penetrance and expressivity, DBAS poses significant diagnostic challenges, necessitating advancements in genetic testing for improved accuracy. Here, we present the case of an 18-year-old male with a long-standing macrocytic anemia that remained undiagnosed despite standard whole exome sequencing (WES).

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Ocean-emitted dimethyl sulfide (DMS) is a major source of climate-cooling aerosols. However, most of the marine biogenic sulfur cycling is not routed to DMS but to methanethiol (MeSH), another volatile whose reactivity has hitherto hampered measurements. Therefore, the global emissions and climate impact of MeSH remain unexplored.

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Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the gene. Five Cypriot patients (four males and one female) were diagnosed with a CblC defect. Age at diagnosis ranged from 10 days to 9 months.

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Article Synopsis
  • Atmospheric new particle formation (NPF) is the natural process of creating tiny particles (sub-10 nm) from gases, observed globally in various environments.
  • Although these particles impact total and ultrafine particle concentrations, there is limited research on their health effects largely due to a lack of specific identifiers in existing data.
  • This study introduces an automated machine learning algorithm that identifies NPF events from particle data across 65 global measurement sites from 1996 to 2023, facilitating future research on NPF.
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  • Elevated fetal hemoglobin (HbF) can reduce disease severity in β hemoglobinopathies, and understanding its genetic basis may lead to personalized treatments.
  • A systematic review of GWAS studies identified 939 significant SNP-trait associations linked to HbF, focusing on genes primarily located on chromosomes 2, 6, and 11, among others.
  • The study emphasizes the need for further research on less frequently associated genetic loci and suggests a focus on diverse populations to improve therapeutic strategies for conditions like sickle cell disease and β-thalassemia.
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Germline copy number variants and endometrial cancer risk.

Hum Genet

December 2024

Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.

Article Synopsis
  • Known genetic risk factors account for about one-third of familial endometrial cancer cases, but the link between rare germline copy number variants (CNVs) and cancer risk is not well understood.
  • A study analyzed DNA from over 4,000 endometrial cancer patients and nearly 18,000 controls, finding that the cancer group had a significantly higher number of CNVs.
  • The research identified 141 gene loci potentially related to endometrial cancer risk, highlighting a specific area (16p11.2) with recurrent deletions that could help further investigations into genetic susceptibility.
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Anthropogenic emissions alter atmospheric composition and therefore the climate, with implications for air pollution- and climate-related human health. Mortality attributable to air pollution and non-optimal temperature is a major concern, expected to shift under future climate change and socioeconomic scenarios. In this work, results from numerical simulations are used to assess future changes in mortality attributable to long-term exposure to both non-optimal temperature and air pollution simultaneously.

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Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G (PIGG) cause hypotonia, intellectual disability, seizures, and cerebellar features. We present 8 patients from 6 families with a childhood-onset motor neuropathy and neurophysiology demonstrating variable motor conduction block and temporal dispersion. All individuals had a childhood onset tremor, 5 of 8 had cerebellar involvement, and 6 of 8 had childhood febrile seizures.

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Introduction: Relapsing-Remitting Multiple Sclerosis manifests various motor symptoms including impairments in corticospinal tract integrity, whose symptoms can be assessed using transcranial magnetic stimulation. Several factors, such as exercise and interlimb coordination, can influence the plastic changes in corticospinal tract. Previous work in healthy and chronic stroke survivors showed that the greatest improvement in corticospinal plasticity occurred during in-phase bilateral exercises of the upper limbs.

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Polygenic risk scores stratify breast cancer risk among women with benign breast disease.

J Natl Cancer Inst

October 2024

Department of Quantitative Health Sciences, Mayo Clinic, Jacksonville, FL, USA, and Rochester, MN, USA.

Purpose: Most breast biopsies are diagnosed as benign breast disease (BBD), with 1.5- to fourfold increased breast cancer (BC) risk. Apart from pathologic diagnoses of atypical hyperplasia, few factors aid in BC risk assessment of these patients.

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Article Synopsis
  • Research data management (RDM) is crucial for implementing FAIR and Open Science principles, leading to the development of valuable tools and resources for effective data management in scientific research.
  • Despite the valuable resources produced by ELIXIR Platforms and Nodes, they are currently scattered, creating challenges in their application and dissemination, highlighting the need for coordinated RDM efforts.
  • The proposed ELIXIR RDM Community aims to unify RDM experts, enhance knowledge exchange, provide training, and develop best practices, thereby strengthening RDM skills and addressing the evolving needs within the scientific community.
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Stature estimation is central in forensic anthropology and very important in bioarchaeology. For this reason, several different methods have been proposed, employing different skeletal elements and statistical approaches. A major issue with skeletonized individuals is that their bones are often found fragmented, a taphonomic parameter that limits the application of many available methods.

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Aldehyde dehydrogenases (ALDHs) constitute a diverse superfamily of NAD(P)-dependent enzymes pivotal in oxidizing endogenous and exogenous aldehydes to carboxylic acids. Beyond metabolic roles, ALDHs participate in essential biological processes, including differentiation, embryogenesis and the DNA damage response, while also serving as markers for cancer stem cells (CSCs). Aldehyde dehydrogenase 1B1 (ALDH1B1) is a mitochondrial enzyme involved in the detoxification of lipid peroxidation by-products and metabolism of various aldehyde substrates.

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Inhalation of nanosized metal oxides may occur at the workplace. Thus, information on potential hazardous effects is needed for risk assessment. We report an investigation of the genotoxic potential of different metal oxide nanomaterials.

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Unveiling the organic chemical composition and sources of organic carbon in PM at an urban site in Greater Cairo (Egypt): A comprehensive analysis of primary and secondary compounds.

Environ Res

December 2024

Emissions, Measurements, and Modelling of the Atmosphere (EMMA) Laboratory, CAR, Faculty of Science, Saint-Joseph University, Beirut, Lebanon; Climate and Atmosphere Research Center (CARE-C), The Cyprus Institute, Nicosia, 2121, Cyprus. Electronic address:

Article Synopsis
  • This study analyzed the organic components of fine particulate matter collected in urban Cairo over two months, highlighting the area's severe pollution levels.
  • Key findings included significant contributions from cooking (31%) and biomass burning (18%), with newly identified pollutants such as phthalates linked to open waste burning.
  • The research used advanced methods to determine the sources of organic carbon and assessed the associated uncertainties, providing insights into urban air quality and pollution sources in one of the world's most polluted cities.
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We analyze the displacements of the particles of a glass-forming molecular liquid perpendicular to a confining solid surface using extensive molecular dynamics simulations with atomistic models. In the vicinity of an attractive surface, the liquid molecules are trapped. Transient localization of liquid molecules near the surface introduces a relaxation process related to the escape of molecules from the surface into the dynamics of the interfacial liquid layer.

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Background: Despite functional connectivity network dysfunction among individuals with headaches, no studies have examined functional connectivity neural correlates and anatomical differences in coping with headaches.

Methods: This study investigated inter-individual variability in whole-brain functional connectivity and anatomical differences among 37 individuals with primary headaches and 24 age- and gender-matched controls, and neural correlates of psychological flexibility (PF) that was previously found to contribute to headache adjustment. Participants (84% women; M headache severity = 4/10; M age = 43 years) underwent functional magnetic resonance imaging scans and completed questionnaires to examine global and subnetwork brain areas, and their relations with PF components, controlling for age, gender, education, and head-motion.

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This study provides a detailed picture of how a protein (lysozyme) complexes with a poly(acrylic acid) polyelectrolyte (PAA) in water at the atomic level using a combination of all-atom molecular dynamics simulations and experiments. The effect of PAA and temperature on the protein's structure is explored. The simulations reveal that a lysozyme's structure is relatively stable except from local conformational changes induced by the presence of PAA and temperature increase.

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Background: The health benefits of the Mediterranean diet are partially attributed to the polyphenols present in extra virgin olive oil (EVOO), which have been shown to have anti-cancer properties. However, the possible effect that EVOO could have on Chronic Lymphocytic Leukemia (CLL) has not been fully explored.

Methods:  This study investigates the anti-CLL activity of EVOO through a computational multi-level data analysis procedure, focusing on the identification of shared biological functions between them.

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Antibiotics resistance is expanding amongst pathogenic bacteria. Phage therapy is a revived concept for targeting bacteria with multiple antibiotics resistances. In the present study, we isolated and characterized a novel phage from hospital treatment plant input, using () as host bacterium.

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Background And Objective: The standard of care in Acute Myeloid Leukemia patients has remained essentially unchanged for nearly 40 years. Due to the complicated mutational patterns within and between individual patients and a lack of targeted agents for most mutational events, implementing individualized treatment for AML has proven difficult. We reanalysed the BeatAML dataset employing Machine Learning algorithms.

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Polymer nanocomposites have found ubiquitous use across diverse industries, attributable to their distinctive properties and enhanced mechanical performance compared to conventional materials. Elucidating the elastic-to-plastic transition in polymer nanocomposites under diverse mechanical loads is paramount for the bespoke design of materials with desired mechanical attributes. In the current work, the elastic-to-plastic transition is probed in model systems of polyethylene oxide (PEO) and silica, SiO, nanoparticles, through detailed atomistic molecular dynamics simulations.

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Article Synopsis
  • Ammonia emissions in Southeast Asia significantly impact air pollution and the development of the Asian Tropopause Aerosol Layer (ATAL), particularly during summer when the South Asian monsoon is active.
  • The study utilizes the EMAC chemistry-climate model to analyze how ammonia influences particle formation, revealing a tenfold increase in particle creation during the day, especially within the monsoon's upper troposphere and lower stratosphere (UTLS).
  • Findings indicate that while ammonia enhances cloud condensation nuclei (CCN) concentrations and aerosol optical depth (AOD), its effect on aerosol mass in the ATAL is comparatively limited, suggesting a complex relationship between ammonia, particle growth, and aerosol composition.
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