The GAA repeat expansion is a major cause of ataxia in the Cypriot population.

Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA) repeat units is considered highly penetrant, while (GAA) is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia.

Saturation genome editing-based clinical classification of BRCA2 variants.

Sequencing-based genetic tests have uncovered a vast array of BRCA2 sequence variants. Owing to limited clinical, familial and epidemiological data, thousands of variants are considered to be variants of uncertain significance (VUS). Here we have utilized CRISPR-Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line to determine the functional effect of VUS.

Mapping emissions in Cyprus using TROPOMI observations: evaluation of the flux-divergence scheme using multiple parameter sets.

The production of nitrogen oxides (NO = NO + NO ) is substantial in urban areas and from fossil fuel-fired power plants, causing both local and regional pollution, with severe consequences for human health. To estimate their emissions and implement air quality policies, authorities often rely on reported emission inventories. The island of Cyprus is de facto divided into two different political entities, and as a result, such emissions inventories are not systematically available for the whole island.

Recent methane surges reveal heightened emissions from tropical inundated areas.

Record breaking atmospheric methane growth rates were observed in 2020 and 2021 (15.2±0.5 and 17.

Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.

Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.

Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.

Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.

Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness. More than fifty genes carrying causative or disease-modifying variants have been identified since the 1990s, when the first ALS-associated variant in the gene SOD1 was discovered. The most commonly mutated ALS genes in the European populations include the C9orf72, SOD1, TARDBP and FUS.

Three-Dimensional Thermal Tomography with Physics-Informed Neural Networks.

: Accurate reconstruction of internal temperature fields from surface temperature data is critical for applications such as non-invasive thermal imaging, particularly in scenarios involving small temperature gradients, like those in the human body. : In this study, we employed 3D convolutional neural networks (CNNs) to predict internal temperature fields. The network's performance was evaluated under both ideal and non-ideal conditions, incorporating noise and background temperature variations.

Vulcanization Accelerators and Silica Coupling Agents in Polyisoprene Melts.

The achievement of sufficient dispersion of vulcanization accelerators is critical to tailoring superior cross-linked elastomers. Modern recipes rely on multicomponent formulations with silica particles covered by coupling agents. We study the molecular properties of select accelerators in polyisoprene melts and their affinity for functionalized surfaces via extensive all-atom molecular dynamics simulations.

The cow GUTBIOME CY study: investigating the composition of the cattle gut microbiome in health and infectious disease transmission in cyprus.

Background: Recent evidence suggests that the lower gut microbiome of ruminants presents roles in their health and environment, including the development of the mucosal immune system, milk production efficiency and quality and subsequent methane emissions. However, there are proportionately fewer studies on this complex microbial community in cattle and region-focus studies are non- existent.

Methods: Herein, we present the research protocol of the GUTBIOME CY project pertaining to determine the composition of the lower gut microbiome in dairy cows situated in 37 farms across five districts of the island of Cyprus.

Chemical Characterization and Assessment of the Neuroprotective Potential of .

L., commonly known as eyebright, is a medicinal plant used in folk medicine for eye disorders and memory loss. Due to its abundance of compounds with proven neuroprotective properties, there has been growing interest in exploring eyebright's potential health benefits, particularly for preventing or treating neurodegenerative diseases like Alzheimer's disease.

Ambient air pollution undermines chemosensory sensitivity - a global perspective.

This study offers insights into the complex relationship between chemical species constituting air pollution and chemosensory function. We examined the relationship between chemical species known to contribute to air pollution and assault human health and chemosensory sensitivity. Chemosensory sensitivity data was retrieved from a large-scale study involving 711 urban-dwelling participants inhabiting 10 different regions of the globe.

Interaction of CO, CO, CSO, HO, NO, NO, NO, O, ONH, and SO gases onto BNNT(m,n)_x, (m = 3, 5, 7; n = 0, 3, 5, 7; x = 3-9).

Context: This research investigates two critical areas, providing valuable insights into the properties and interactions of boron nitride nanotubes (BNNTs). Initially, a variety of BNNT structures (BNNT(m,n)_x, where m = 3, 5, 7; n = 0, 3, 5, 7; x = 3-9) with different lengths and diameters are explored to understand their electronic properties. The study then examines the interactions between these nanotubes and several gases (CO, CO, CSO, HO, NO, NO, NO, O, ONH, and SO) to identify the most stable molecular configurations using the bee colony algorithm for global optimization.

New particle formation from isoprene under upper-tropospheric conditions.

Aircraft observations have revealed ubiquitous new particle formation in the tropical upper troposphere over the Amazon and the Atlantic and Pacific oceans. Although the vapours involved remain unknown, recent satellite observations have revealed surprisingly high night-time isoprene mixing ratios of up to 1 part per billion by volume (ppbv) in the tropical upper troposphere. Here, in experiments performed with the CERN CLOUD (Cosmics Leaving Outdoor Droplets) chamber, we report new particle formation initiated by the reaction of hydroxyl radicals with isoprene at upper-tropospheric temperatures of -30 °C and -50 °C.

Isoprene nitrates drive new particle formation in Amazon's upper troposphere.

New particle formation (NPF) in the tropical upper troposphere is a globally important source of atmospheric aerosols. It is known to occur over the Amazon basin, but the nucleation mechanism and chemical precursors have yet to be identified. Here we present comprehensive in situ aircraft measurements showing that extremely low-volatile oxidation products of isoprene, particularly certain organonitrates, drive NPF in the Amazonian upper troposphere.

Identification of climate change hotspots in the Mediterranean.

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.

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.

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).

Marine emissions of methanethiol increase aerosol cooling in the Southern Ocean.

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.

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

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.

Atmospheric health burden across the century and the accelerating impact of temperature compared to pollution.

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.

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

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.