255 results match your criteria: "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).

View Article and Find Full Text PDF

Polymorphisms in genes of melatonin biosynthesis and signaling support the light-at-night hypothesis for breast cancer.

Eur J Epidemiol

October 2023

Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bürkle-de-la-Camp-Platz 1, 44789, Bochum, Germany.

Article Synopsis
  • Light-at-night exposure is linked to decreased melatonin production from the pineal gland and is considered a potential risk factor for breast cancer by the IARC.
  • A study of 44,405 women examined the relationship between breast cancer risk and genetic variations (SNPs) associated with melatonin synthesis and signaling, using logistic regression for analysis.
  • Significant findings included 10 SNPs in the TPH2 gene and one in the MAPK8 gene, suggesting that these genetic factors may influence breast cancer risk, particularly in relation to circadian disruptions caused by light exposure at night.
View Article and Find Full Text PDF

X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) is a demyelinating neuropathy resulting from loss-of-function mutations affecting the /connexin 32 (Cx32) gene. We previously showed functional and morphological improvement in -null mice following AAV9-mediated delivery of human Cx32 driven by the myelin protein zero (Mpz) promoter in Schwann cells. However, CMT1X mutants may interfere with virally delivered wild-type (WT) Cx32.

View Article and Find Full Text PDF

Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls.

View Article and Find Full Text PDF

Background: Primary ciliary dyskinesia (PCD) is a congenital disorder characterized by chronic respiratory morbidity. To date, there is no information on PCD-specific preference-based quality of life measures such as health utilities (HU). We cross-sectionally assessed HU in adult PCD patients and explored relationships with genotype, phenotype and quality of life (QOL)-PCD scales.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study.

Br J Sports Med

October 2022

Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia

Article Synopsis
  • - The study investigates the causal relationship between physical activity, sedentary behavior, and breast cancer risk using Mendelian randomization, analyzing data from over 130,000 European women.
  • - Findings suggest that higher levels of genetic predisposition to physical activity are linked to a significantly lower overall breast cancer risk, particularly for pre/perimenopausal cases, while increased sedentary time correlates with a higher risk of certain types of tumors.
  • - The results are consistent across various test groups and indicate that promoting physical activity and reducing sedentary behavior might be beneficial in mitigating breast cancer risks.
View Article and Find Full Text PDF
Article Synopsis
  • - Genome-wide association studies have identified over 200 genetic variants linked to breast cancer, but these only account for a small portion of the overall risk, prompting researchers to explore the role of gene-environment interactions.
  • - The study used data from over 93,000 individuals to analyze how predicted gene expression might interact with 14 known risk factors for breast cancer, employing rigorous statistical methods to assess these interactions.
  • - Ultimately, the research found no strong evidence supporting significant gene-environment interactions affecting breast cancer risk, indicating that these genetic expressions may play a limited role in modifying the impact of established risk factors.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Hum Mol Genet

December 2022

Center for Gene Therapy, Nationwide Children's Hospital, Abigail Wexner Research Institute, and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43205, USA.

The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype-phenotype correlations have previously been reported. We describe identical twin male infants homozygous for a novel missense variant NM_001859.4:c.

View Article and Find Full Text PDF
Article Synopsis
  • Reproductive factors, such as parity and breastfeeding, show varying associations with different subtypes of breast cancer, particularly distinguishing between estrogen receptor-positive and -negative types.
  • In a vast study involving over 23,000 cases and 71,000 controls, researchers used statistical methods to examine how these factors relate to intrinsic breast cancer subtypes like luminal A-like and triple-negative.
  • The findings revealed that parous women face a decreased risk of certain ER-positive breast cancers after a significant time post-birth, while they show an increased risk of triple-negative breast cancer, particularly soon after childbirth, indicating the complexity of reproductive biology's role in breast cancer risk.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Med

May 2022

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.

Article Synopsis
  • Protein truncating variants in genes like ATM and BRCA1 are linked to higher breast cancer risk, but the risks of missense variants remain unclear.
  • A study involving over 59,000 breast cancer cases analyzed the impact of rare missense variants across several genes using advanced prediction techniques and statistical models.
  • The analysis indicated that some missense variants in genes like ATM and BRCA1 could carry risks similar to truncating variants, while CHEK2 showed a different risk profile, and PALB2 variants had minimal association with breast cancer risk.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause has been associated with Poland syndrome, although familial cases have been reported. We report the employment of trio exome investigation and the identification of a heterozygous de novo pathogenic variant in the gene, a transcription factor associated with transcriptional repression during development, in a 14-yr-old boy with Poland syndrome.

View Article and Find Full Text PDF
Article Synopsis
  • * Through analysis of over 9 million genetic variants, the researchers found that none showed a significant interaction with MHT use for breast cancer risk, indicating common genetic variations do not heavily influence this association.
  • * The strongest evidence of interaction was linked to a specific genetic variant, but overall findings suggest MHT's effect on breast cancer risk is primarily not affected by common genetic factors.
View Article and Find Full Text PDF

Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci.

Breast Cancer Res

April 2022

Department of Epidemiology, School of Public Health, University of Washington, 3980 15th Ave NE, Box 351619, Seattle, WA, 98195, USA.

Background: Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenotypes are highly heritable. However, only a small proportion of their variance is explained by identified genetic variants.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Serum miRNAs as biomarkers for the rare types of muscular dystrophy.

Neuromuscul Disord

April 2022

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

Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers' development for the most rare muscular dystrophies, like the Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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).

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

(1) Background: The heritability of breast cancer is partly explained but much of the genetic contribution remains to be identified. Haplotypes are often used as markers of ethnicity as they are preserved through generations. We have previously demonstrated that haplotype analysis, in addition to standard SNP association studies, could give novel and more detailed information on genetic cancer susceptibility.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF