102 results match your criteria: "The Cyprus School of Molecular Medicine[Affiliation]"

Background: The COVID-19 pandemic reportedly had a significant impact on drug and alcohol use. In this article, we determine positivity rates for urine drugs of abuse and blood alcohol in 5 emergency departments (ED) in the greater Boston metropolitan area over a 4-year period (pre-, during, and post-COVID-19 pandemic).

Methods: Positivity rates for the urine drug screening (UDS) panel and blood alcohol concentration (>80 mg/dL; over the legal limit in MA) were calculated in patients presenting to one of the 5 ED (2 academic hospitals in Boston, MA and 3 community hospitals outside Boston, MA) during each of the 4 different time periods: pre-COVID (January 1, 2019 to December 31, 2019), stay-at-home (March 24, 2020 to May 18, 2020), during COVID (May 19, 2020 to March 28, 2021), and post-COVID (May 12, 2023 to August 31, 2023).

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Vir2Drug: a drug repurposing framework based on protein similarities between pathogens.

Brief Bioinform

January 2023

Bioinformatics Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus | PO Box 23462, 1683 Nicosia, Cyprus.

We draw from the assumption that similarities between pathogens at both pathogen protein and host protein level, may provide the appropriate framework to identify and rank candidate drugs to be used against a specific pathogen. Vir2Drug is a drug repurposing tool that uses network-based approaches to identify and rank candidate drugs for a specific pathogen, combining information obtained from: (a) ranked pathogen-to-pathogen networks based on protein similarities between pathogens, (b) taxonomy distance between pathogens and (c) drugs targeting specific pathogen's and host proteins. The underlying pathogen networks are used to screen drugs by means of specific methodologies that account for either the host or pathogen's protein targets.

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Novel clinical, molecular and bioinformatics insights into the genetic background of autism.

Hum Genomics

September 2022

Laboratory of Genetics, Department of Molecular Biology and Genetics, Democritus University of Thrace, 68100, Alexandroupolis, Greece.

Background: Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of the true nature of the disorder. Our goal is to determine the biology of the disorder and the ASD-associated genes that lead to differences in the severity and variability of clinical features, which can enhance the ability to predict clinical outcomes.

Method: Novel Whole Exome Sequencing data from children (n = 33) with ASD were collected along with extended cognitive and linguistic assessments.

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Background: Thalassemias are inherited blood disorders and by far one of the most common monogenic diseases globally. Beta-thalassemia has a particularly high prevalence in Cyprus, with the IVSI-110 G>A (HBB:c.93-21G>A) pathogenic variation representing almost 79% of the total carriers.

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ANO10 Function in Health and Disease.

Cerebellum

June 2023

Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Iroon Avenue 6, Agios Dometios 2371, Nicosia, Cyprus.

Anoctamin 10 (ANO10), also known as TMEM16K, is a transmembrane protein and member of the anoctamin family characterized by functional duality. Anoctamins manifest ion channel and phospholipid scrambling activities and are involved in many physiological processes such as cell division, migration, apoptosis, cell signalling, and developmental processes. Several diseases, including neurological, muscle, blood disorders, and cancer, have been associated with the anoctamin family proteins.

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Background: Assessment of dietary intake is fundamental for evaluating the interrelationships between diet and disease. The present study aimed to develop and validate the semiquantitative Cypriot food frequency questionnaire (CyFFQ).

Methods: A 171-item paper-and-pencil semiquantitative interview-administered FFQ was developed, including local foods and culturally specific meals commonly consumed among Cypriot adults.

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Background: Cancer cells escape macrophage phagocytosis by expressing the CD47 integrin-associated protein that binds to the SIRPα ligand (signal regulatory protein alpha) expressed by macrophages. Immunotherapy targeting this pathway is under clinical development.

Methods: We investigated the expression of CD47/SIRPα molecules in a series of 98 NSCLCs, in parallel with the infiltration of tumor stroma by CD68+ macrophages, tumor-infiltrating lymphocytes (TILs), and PD-L1/PD-1 molecules.

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The lifetime of orthopaedic implants can be extended by coating the softer TiAlV alloy with harder biocompatible thin films. In this work, thin films of TiAu are grown on TiAlV and glass substrates by magnetron sputtering in the entire x = 0-1 range, before their key biomechanical properties are performance tuned by thermal activation. For the first time, we explore the effect of in-situ substrate heating versus ex-situ post-deposition heat-treatment, on development of mechanical and biocompatibility performance in Ti-Au films.

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Background: AKI is an abrupt decrease in kidney function associated with significant morbidity and mortality. Electronic notifications of AKI have been utilized in patients who are hospitalized, but their efficacy in the outpatient setting is unclear.

Methods: We evaluated the effect of two outpatient interventions: an automated comment on increasing creatinine results (intervention I; 6 months; =159) along with an email to the provider (intervention II; 3 months; =105), compared with a control (baseline; 6 months; =176).

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Background: Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes, including GBA2. This gene codes for the non-lysososomal β-glucosylceramidase, which is involved in sphingolipid metabolism through its catalytic role in the degradation of glucosylceramide.

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Cereal and Confectionary Packaging: Background, Application and Shelf-Life Extension.

Foods

February 2022

Packaging and Resource Management, Department Applied Life Sciences, FH Campus Wien, 1030 Vienna, Austria.

In both public and private sectors, one can notice a strong interest in the topic of sustainable food and packaging. For a long time, the spotlight for optimization was placed on well-known examples of high environmental impacts, whether regarding indirect resource use (e.g.

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Watercress is an enriched source of phenethyl isothiocyanate (PEITC), among other phytochemicals, with an antioxidant capacity. The aim of this study was to (i) chemically characterize and () biologically evaluate the profile of the main health-promoting compounds contained in edible (i.e.

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Background: Cannabis is widely used in the United States despite federal laws. In US states that have progressed toward legalization, there have been various reported impacts on cannabis-related emergency department (ED) visits. However, studies on the impact of legalization in Massachusetts (MA) EDs are lacking.

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The purpose of this study was to evaluate the neuroprotective effects of omega-3 polyunsaturated fatty acid (ω3-PUFA) supplementation in a mouse model of OPA1-associated autosomal dominant optic atrophy (ADOA). The blood level of arachidonic acid (AA) and eicosapentaenoic acid (EPA) served to adjust the treatment dosage (AA/EPA = 1.0-1.

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The predominance of bacterial taxa in the gut, was examined in view of the putative antimicrobial peptide sequences (AMPs) within their proteomes. The working assumption was that compatible bacteria would share homology and thus immunity to their putative AMPs, while competing taxa would have dissimilarities in their proteome-hidden AMPs. A network-based method ("Bacterial Wars") was developed to handle sequence similarities of predicted AMPs among -derived protein sequences from different bacterial taxa, while a resulting parameter ("" score) suggested which taxa would prevail in a defined microbiome.

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Malignant melanoma is one of the most aggressive types of skin cancer with an increasing incidence worldwide. Thus, the development of innovative therapeutic approaches is of great importance. (SF) is known for its anticancer properties and in this context, we aimed to investigate its potential anti-melanoma activity in an in vitro model of human malignant melanoma.

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Background: This study aims to characterize SARS-CoV-2 mutations which are primarily prevalent in the Cypriot population. Moreover, using computational approaches, we assess whether these mutations are associated with changes in viral virulence.

Methods: We utilize genetic data from 144 sequences of SARS-CoV-2 strains from the Cypriot population obtained between March 2020 and January 2021, as well as all data available from GISAID.

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miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1.

Mol Ther Methods Clin Dev

December 2021

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus, PO Box 23462, 1683 Nicosia, Cyprus.

Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in the rapidly developing biomarker research field that aim to improve patients' care. Limited work, however, has been performed on rare diseases, including DM1.

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Background/aim: Colon cancer is one of the most common cancer types and the second leading cause of death due to cancer. Many efforts have been performed towards the investigation of molecular alterations during colon cancer progression. However, the identification of stage-specific molecular markers remains a challenge.

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The PRS combines multiplicatively the effects of common low-risk single nucleotide polymorphisms (SNPs) and has the potential to be used for the estimation of an individual's risk for a trait or disease. PRS has been successfully implemented for the prediction of breast cancer risk. The combination of PRS with classical breast cancer risk factors provides a more comprehensive risk estimation and could, thus, improve risk stratification and personalized preventative strategies.

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Article Synopsis
  • Parkinson's disease (PD) is influenced by genetic and lifestyle factors, prompting a study to evaluate how well a polygenic risk score (PRS) from 12 SNPs predicts PD alongside these factors.
  • Data from 235 PD patients and 464 controls were analyzed, showing that the PRS was significantly higher in PD cases, with other risk factors like age and family history also linked to the disease.
  • A combined predictive model using the PRS and seven lifestyle/environmental factors proved most effective in identifying PD risk in the studied population.
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A fundamental issue related to the understanding of the molecular mechanisms, is the way in which common pathways act across different biological experiments related to complex diseases. Using network-based approaches, this work aims to provide a numeric characterization of pathways across different biological experiments, in the prospect to create unique footprints that may characterise a specific disease under study at a pathway network level. In this line we propose PathExNET, a web service that allows the creation of pathway-to-pathway expression networks that hold the over- and under expression information obtained from differential gene expression analyses.

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Multiple malformation syndromes (MMS) belong to a group of genetic disorders characterised by neurodevelopmental anomalies and congenital malformations. Here we explore for the first time the genetic aetiology of MMS using whole-exome sequencing (WES) in undiagnosed patients from the Greek-Cypriot population after prior extensive diagnostics workup including karyotype and array-CGH. A total of 100 individuals (37 affected), from 32 families were recruited and family-based WES was applied to detect causative single-nucleotide variants (SNVs) and indels.

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Whole genome sequencing of viral specimens following molecular diagnosis is a powerful analytical tool of molecular epidemiology that can critically assist in resolving chains of transmission, identifying of new variants or assessing pathogen evolution and allows a real-time view into the dynamics of a pandemic. In Cyprus, the first two cases of COVID-19 were identified on March 9, 2020 and since then 33,567 confirmed cases and 230 deaths were documented. In this study, viral whole genome sequencing was performed on 133 SARS-CoV-2 positive samples collected between March 2020 and January 2021.

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Article Synopsis
  • Virus-host protein-protein interactions (PPIs) are crucial for viral replication within hosts and may disrupt human cellular networks, potentially leading to neurodegenerative diseases (NDs) with limited current treatment options.
  • This paper reviews online tools for analyzing viral-mediated effects on NDs and introduces a bioinformatics approach to map pathogen-gene-disease interactions, focusing specifically on multiple sclerosis (MS).
  • The study identifies seven key nodes influencing MS pathways and highlights the Th17 differentiation pathway as a significant viral-mediated mechanism and potential therapeutic target for the disease.
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