255 results match your criteria: "Cyprus School of Molecular Medicine[Affiliation]"
J Appl Lab Med
November 2024
Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.
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).
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.
Mol Ther Methods Clin Dev
September 2023
Neuroscience Department, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, 2371 Nicosia, Cyprus.
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 PDFGenome Med
January 2023
Division of Psychiatry, University College London, London, UK.
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.
Multidiscip Respir Med
January 2022
Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.
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 PDFBrief 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 PDFBr J Sports Med
October 2022
Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia
Cancer Res Commun
April 2022
Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA, USA.
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.
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 PDFJ Natl Cancer Inst
December 2022
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Clin Chem
July 2022
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
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 PDFCerebellum
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 PDFGenome Med
May 2022
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
J Hum Nutr Diet
February 2023
The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
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.
Cold Spring Harb Mol Case Stud
April 2022
Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics Nicosia, Cyprus.
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 PDFSci Rep
April 2022
Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA, USA.
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 PDFCancers (Basel)
April 2022
Department of Radiotherapy/Oncology, Medical School, Democritus University of Thrace, 68100 Alexandroupolis, Greece.
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.
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 PDFBioact Mater
September 2022
Department of Mechanical and Construction Engineering, Northumbria University, Newcastle Upon Tyne, UK.
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 PDFKidney360
October 2021
Harvard Medical School, Boston, Massachusetts.
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).
Cell Biosci
March 2022
Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, 2370, Nicosia, Cyprus.
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 PDFCancers (Basel)
February 2022
Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.
(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 PDFFoods
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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