Article
Public, Environmental & Occupational Health
Adrienne Epstein, Jane Frances Namuganga, Isaiah Nabende, Emmanuel Victor Kamya, Moses R. Kamya, Grant Dorsey, Hugh Sturrock, Samir Bhatt, Isabel Rodriguez-Barraquer, Bryan Greenhouse
Summary: This study used health facility data in Uganda to model and map malaria incidence, finding high burden in the north and northeast regions, and lower incidence in areas receiving indoor residual spraying. It also discovered potential underreporting by the routine surveillance system. The study suggests investing in robust surveillance systems within public health facilities as a cost-effective tool for identifying vulnerable regions and tracking intervention impact.
Review
Gastroenterology & Hepatology
Margaret L. P. Teng, Cheng Han Ng, Daniel Q. Huang, Kai En Chan, Darren J. H. Tan, Wen Hui Lim, Ju Dong Yang, Eunice Tan, Mark D. Muthiah
Summary: Nonalcoholic fatty liver disease (NAFLD) is a leading cause of liver disease worldwide, with a higher incidence among males. The global prevalence of NAFLD among adults is 32%, and it has been increasing over time. The prevalence varies by world region, with the Americas and South-East Asia having the highest rates. If current trends continue, the prevalence of NAFLD is projected to increase significantly by 2030.
CLINICAL AND MOLECULAR HEPATOLOGY
(2023)
Article
Gastroenterology & Hepatology
James D. Lewis, Lauren E. Parlett, Michele L. Jonsson Funk, Colleen Brensinger, Virginia Pate, Qufei Wu, Ghadeer K. Dawwas, Alexandra Weiss, Brad D. Constant, Maureen Mccauley, Kevin Haynes, Jeff Yufeng Yang, Douglas E. Schaubel, Andres Hurtado-Lorenzo, Michael David Kappelman
Summary: This study aimed to estimate the incidence, prevalence, and racial-ethnic distribution of physician-diagnosed inflammatory bowel disease (IBD) in the United States. Four administrative claims data sets were used, and corresponding estimates were obtained. The incidence of IBD remained relatively stable between the ages of 20 and 80, with variations in diagnosis rates among different races and ethnicities.
Article
Respiratory System
Toby M. Maher, Elisabeth Bendstrup, Louis Dron, Jonathan Langley, Gerald Smith, Javaria Mona Khalid, Haridarshan Patel, Michael Kreuter
Summary: IPF is a progressive lung disease with varying reported incidence and prevalence globally. Based on analyzed countries, estimated adjusted incidence and prevalence of IPF range from 0.09-1.30 and 0.33-4.51 per 10,000 persons, respectively. Future epidemiologic studies of IPF should account for age, sex, smoking status, and case definition specificity for consistency.
RESPIRATORY RESEARCH
(2021)
Article
Respiratory System
Ingrid A. Cox, Petr Otahal, Barbara Graaff, Tamera J. Corte, Yuben Moodley, Chris Zappala, Ian Glaspole, Peter Hopkins, Sacha Macansh, E. Haydn Walters, Andrew J. Palmer
Summary: This study utilized the MIAMOD method and software to estimate the mortality, incidence, and prevalence of IPF in Australia, with results showing an increase in these rates over the study period but a projected decrease in the future. The majority of IPF cases and deaths were found in individuals over 70 years old, with higher rates observed in males compared to females.
Article
Gastroenterology & Hepatology
Qiu-Yu Cai, Kun Tan, Xue-Li Zhang, Xu Han, Jing-Ping Pan, Zhi-Yin Huang, Cheng-Wei Tang, Jing Li
Summary: The incidence of CP in Sichuan Province, China is increasing, with an average annual incidence rate of 6.81 per 100000 person-years.The most common comorbidity in CP patients is diabetes. The number of CP-related hospitalizations and the hospitalization costs have been increasing over the years.
WORLD JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Public, Environmental & Occupational Health
Valerie Crowell, Richard Houghton, Akanksha Tomar, Tricia Fernandes, Ferdinando Squitieri
Summary: Understanding the epidemiology of Huntington's disease is crucial for assessing disease burden and healthcare resource allocation. A model was developed and validated to estimate the diagnosed prevalence of the disease, with data from 8 countries indicating an estimated 66,787 individuals diagnosed with HD in 2020. The majority of patients were in less severe stages, with diagnosed prevalence rates varying between countries.
Article
Dermatology
Theofanis Zagoras, Rahime Inci, Despoina Kantere, Peter Holmstroem, Jenny Brostroem, Martin Gillstedt, Sam Polesie, Sirkku Peltonen
Summary: This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and analyse healthcare usage. The study identified 73 unique genodermatosis diagnoses from the patient registry and verified the diagnoses using medical records. The incidence and prevalence of each diagnosis were calculated based on the nationwide cohort.
ACTA DERMATO-VENEREOLOGICA
(2023)
Article
Microbiology
Per-Olof Nilsson, Ivar Tjernberg
Summary: The aim of this study was to provide a detailed epidemiological overview of Lyme neuroborreliosis (LNB) in a highly endemic area in Sweden from 2008 to 2021 using GIS. Diagnosis of LNB was based on clinical symptoms and CSF analysis. The study found significant variations in LNB incidence between age groups, rural and urban areas, and selected municipalities. The clinical presentation of LNB also differed between children and adults. Surveillance and understanding of local epidemiological conditions can facilitate preventive measures.
Review
Gastroenterology & Hepatology
Kiarash Riazi, Hassan Azhari, Jacob H. Charette, Fox E. Underwood, James A. King, Elnaz Ehteshami Afshar, Mark G. Swain, Stephen E. Congly, Gilaad G. Kaplan, Abdel-Aziz Shaheen
Summary: The prevalence and incidence of non-alcoholic fatty liver disease (NAFLD) are significantly increasing worldwide, with higher rates in men compared to women. Greater awareness and cost-effective risk stratification strategies are needed to address the growing burden of NAFLD.
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2022)
Article
Rheumatology
Jeffrey A. Sparks, Yinzhu Jin, Soo-Kyung Cho, Seanna Vine, Rishi Desai, Tracy J. Doyle, Seoyoung C. Kim
Summary: This study investigated the prevalence, incidence, and cause-specific mortality of RA-associated interstitial lung disease (RA-ILD) among older US patients with RA. The results showed that RA-ILD was present or developed in nearly 5% of patients, and RA-ILD was associated with excess total, respiratory, and cancer mortality compared with RA without ILD.
Article
Gastroenterology & Hepatology
Jonathan P. Segal, Alan Askari, Susan K. Clark, Ailsa L. Hart, Omar D. Faiz
Summary: The study found that patients with inflammatory bowel disease are more likely to develop anal and cervical cancers compared to non-IBD patients, and have a lower survival rate.
INFLAMMATORY BOWEL DISEASES
(2021)
Article
Gastroenterology & Hepatology
Jonathan P. Segal, Alan Askari, Susan K. Clark, Ailsa L. Hart, Omar D. Faiz
Summary: This study demonstrates that patients with inflammatory bowel disease have a higher rate of anal and cervical cancers compared with the general population. Additionally, survival is poorer for anal cancers in the IBD group.
INFLAMMATORY BOWEL DISEASES
(2021)
Article
Dermatology
Retno Wahyuningsih, Robiatul Adawiyah, Ridhawati Sjam, Joedo Prihartono, Endah Ayu Tri Wulandari, Anna Rozaliyani, Robertus Ronny, Darma Imran, Mulyati Tugiran, Forman E. Siagian, David W. Denning
Summary: In Indonesia, an estimated 7.7 million people (2.89%) suffer from serious fungal infections annually. The incidence and prevalence of various fungal diseases vary, with cryptococcosis, Pneumocystis pneumonia, and candidaemia being among the most common.
Article
Medicine, General & Internal
Gabriela Magalhaes Pereira, Nayron Medeiros Soares, Neide Maria Bruscato, Emilio Hideyuki Moriguchi, Joao Senger, Berenice Maria Werle, Rosa Maria Martins de Almeida, Artur Francisco Schumacher-Schuh, Carlos Roberto de Mello Rieder
Summary: This study aims to assess the prevalence and incidence of Parkinson's disease and other parkinsonian syndromes in a 5-year cohort in the southern region of Brazil.
Article
Toxicology
Nicole V. Tolan, Tolumofe Terebo, Peter R. Chai, Timothy B. Erickson, Bryan D. Hayes, Sacha N. Uljon, Athena K. Petrides, Christiana A. Demetriou, Stacy E. F. Melanson
Summary: A study in two academic medical centers in Boston investigated the impact of marijuana legalization on emergency department visits, revealing a significant increase in positive THC IA results and cannabis-related ICD-10 codes as legalization progressed. The increase in THC IA positivity was particularly notable in females, patients aged 30-39, older adults, and those in the highest income tertile, while there were no significant trends observed for patient demographics in ICD-10 codes.
CLINICAL TOXICOLOGY
(2022)
Article
Genetics & Heredity
Christina Votsi, Antonis Ververis, Paschalis Nicolaou, Yiolanda-Panayiota Christou, Kyproula Christodoulou, Eleni Zamba-Papanicolaou
Summary: This study reports a large Cypriot family with spastic ataxia caused by a novel homozygous missense variant in the SPG7 gene. The patients exhibited typical features of spastic ataxia, but phenotypic variation was observed within the family. Functional studies revealed aberrant mitochondrial morphology, indicating the pathogenicity of the identified variant.
FRONTIERS IN GENETICS
(2022)
Article
Nutrition & Dietetics
Elena Philippou, Christiana A. Demetriou, George Loucaides, Nastazia Solomonidou, Elena Critselis, Maria Polykarpou, Spyros Sioulis, Andreas Hadjisavvas, Kyriacos Kyriacou
Summary: The present study developed and validated a semiquantitative Cypriot food frequency questionnaire (CyFFQ) to assess dietary intake in Cypriot adults. The results showed that the CyFFQ is a valid and reliable tool for assessing dietary consumption.
JOURNAL OF HUMAN NUTRITION AND DIETETICS
(2023)
Article
Clinical Neurology
Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brunger, Ulrike B. S. Hedrich, Paul B. Augustijn, Hartmut Baier, Allan Bayat, Francesca Bisulli, Russell J. Buono, Ben Zeev Bruria, Michael G. Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S. Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S. Papacostas, Francesca Ragona, Tiziana Granata, Phillip S. Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A. Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M. Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, Yvonne Weber
Summary: This study identified disease-associated Kv3.2 variants in patients with epilepsy and demonstrated their impact on brain excitability. Some variants were found to increase excitability while others decreased excitability. These findings are important for understanding the pathomechanisms of epilepsy and developing more effective treatment strategies.
Article
Public, Environmental & Occupational Health
Annalisa Quattrocchi, Constantinos Tsioutis, Anna Demetriou, Theopisti Kyprianou, Maria Athanasiadou, Valentinos Silvestros, Ioannis Mamais, Christiana A. Demetriou, Fani Theophanous, Soteroulla Soteriou, Chryso Gregoriadou, Eleni Anastasiou, Panayiotis Kolios, Christos Haralambous, Ioanna Gregoriou, Olga Kalakouta, Georgios Nikolopoulos
Summary: This study investigates the effectiveness of COVID-19 vaccines in preventing reinfection in the Republic of Cyprus. The results show that the control group is more likely to be vaccinated, supporting the offer of vaccination to individuals with previous SARS-CoV-2 infection.
Article
Biochemistry & Molecular Biology
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou
Summary: The study investigated the association between pathogenic variants in the GBA2 gene and Spastic Ataxias (SAs) using RNA-sequencing, identifying significant gene expression differences between SA patients and control tissues. Pathway analyses revealed potential mechanisms involved in SA pathogenesis, offering insights for future biomarker discovery and therapeutic strategies.
CELL AND BIOSCIENCE
(2022)
Article
Clinical Neurology
Feride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, Maike F. Dohrn, Adriana P. Rebelo, Pantelitsa Koutsou, Anthi Georghiou, Pablo Artigas, Stephan L. Zuchner, Kleopas A. Kleopa, Kyproula Christodoulou
Summary: This study reports the first case of demyelinating Charcot-Marie-Tooth disease caused by a novel variant in the ATP1A1 gene. Functional analysis showed significantly reduced expression levels of ATP1A1 and ATP1B1 in the patient, as well as decreased cell viability in vitro. These findings further support the causative role of ATP1A1 in peripheral neuropathy and expand the mutational and phenotypic spectrum of ATP1A1-associated CMT.
JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Dimitrios Parissis, Kyproula Christodoulou, Kleopas A. A. Kleopa
NEUROLOGICAL SCIENCES
(2023)
Article
Multidisciplinary Sciences
Paraskevi P. Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Summary: This study aimed to perform in silico analysis of the already Mass Spectrometry (MS)-based discovered biomarkers of systemic sclerosis (SSc) to extract possible pathways/mechanisms implicated in the disease. The analysis identified several pathways associated with SSc pathogenesis, highlighting the complexity of the disease. Further investigation of these pathways/biological processes and interactions may provide new insights into the understanding of SSc.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A. Tanteles, Carolina Sismani
Summary: This study used whole exome sequencing (WES) to identify novel candidate variants in four familial ABTs and confirmed previous findings that there is no causal relationship between ABTs and discordant phenotypes. Therefore, WES can be recommended as a complementary test to identify the monogenic cause of aberrant phenotypes in familial ABT carriers.
Article
Biochemistry & Molecular Biology
George Minadakis, Kyproula Christodoulou, George Tsouloupas, George M. Spyrou
Summary: PathIN is a web-service that enables the rapid creation of pathway-based networks at multiple biological levels and is supported by a database repository of reference pathway networks. It offers five different methodologies for generating networks and is expected to be a valuable tool for understanding molecular mechanism networks related to specific diseases.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2023)
Article
Nutrition & Dietetics
Christiana C. Christodoulou, Christiana A. Demetriou, Elena Philippou, Eleni Zamba Papanicolaou
Summary: This case-control study assessed the dietary intake and habits of Cypriot Huntington's disease (HD) patients and found that they have significantly higher energy intake compared to controls. The study also revealed differences in macro and micronutrients and adherence to the Mediterranean Diet by both patients and controls and by HD symptom severity.
Review
Neurosciences
Androniki Chrysanthou, Antonis Ververis, Kyproula Christodoulou
Summary: ANO10 is a transmembrane protein with ion channel and phospholipid scrambling activities. It is involved in multiple physiological processes and associated with various diseases. ANO10 plays a significant role in the development of SCAR10.
Meeting Abstract
Biochemistry & Molecular Biology
Petroula Gerasimou, Andri Miltiadous, Ioannis Kyprianou, Jianxiang Chi, Violeta Anastasiadou, George Tanteles, Paul Costeas
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
