Article
Behavioral Sciences
Przemyslaw Zakowicz, Joanna Pawlak, Pawel Kapelski, Monika Wilkosc-Debczynska, Agnieszka Szalkowska, Joanna Twarowska-Hauser, Janusz Rybakowski, Maria Skibinska
Summary: This study found that cognitive deficits in patients with schizophrenia are associated with genetic variations in the inflammatory response, particularly the functional polymorphisms of the IL10 gene. Recent-onset patients performed better in cognitive tests. These results suggest that the role of cytokines in schizophrenia should be further investigated from the perspective of pro-/anti-inflammatory imbalance.
BEHAVIOURAL BRAIN RESEARCH
(2022)
Article
Genetics & Heredity
Guhan Ram Venkataraman, Christopher DeBoever, Yosuke Tanigawa, Matthew Aguirre, Alexander G. Ioannidis, Hakhamanesh Mostafavi, Chris C. A. Spencer, Timothy Poterba, Carlos D. Bustamante, Mark J. Daly, Matti Pirinen, Manuel A. Rivas
Summary: The study introduces a Bayesian model comparison approach called MRP for rare-variant association studies, which can effectively detect associations between genes and multiple phenotypes, providing new opportunities for discovery. When applied to large-scale population sequencing data, the MRP method shows improved signal recovery capabilities and significant effectiveness in meta-analyses of exome data.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Hematology
M. Abdullah Said, Ming Wai Yeung, Yordi J. van de Vegte, Jan Walter Benjamins, Robin P. F. Dullaart, Sanni Ruotsalainen, Samuli Ripatti, Pradeep Natarajan, Luis Eduardo Juarez-Orozco, Niek Verweij, P. van der Harst
Summary: This study identified 40 genetic loci associated with Lp(a) concentrations and confirmed a causal relationship between Lp(a) and CAD, independent of LDL cholesterol. The findings suggest an LDL cholesterol-independent causal link between Lp(a) and CAD.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Chris Watson, J. Paul Spiers, Max Waterstone, Adam Russell-Hallinan, Joseph Gallagher, Kenneth McDonald, Cristin Ryan, John Gilmer, Mark Ledwidge
Summary: The study found that the minor allele of the rs3918242 genetic variant in the promoter region of the MMP-9 gene is associated with an increased risk of myocardial infarction, decreased ejection fraction, and progression of left ventricular systolic dysfunction in diabetes patients. This suggests that MMP-9 may serve as a biomarker for ventricular dysfunction and a potential target for heart failure prevention in diabetes.
BMC CARDIOVASCULAR DISORDERS
(2021)
Article
Genetics & Heredity
Lincheng Yang, Tian Pu, Yan Zhang, Hua Yan, Haiyi Yu, Wei Gao
Summary: This study evaluates the association between SNPs of LDLR, APOB, and PCSK9 and risk of PMI in the Chinese Han population.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Elizabeth Terhune, Patricia Heyn, Christi Piper, Cambria Wethey, Anna Monley, Melissa Cuevas, Nancy Hadley Miller
Summary: This study investigated the relationship between adolescent idiopathic scoliosis (AIS) and genetic variants. Through analysis of multiple studies, they found that specific SNPs, particularly those in or near LBX1 and GPR126, may influence the risk of AIS. However, the translatability of the study findings is uncertain due to underrepresentation of minority ethnic groups and limited number of identified genome-wide studies.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Yingxue Li, Aijun Liu, Jidong Song, Zhiyong Zhang, Qi Zhang
Summary: The study indicates that APLN and APLNR genes are associated with the risk of myocardial infarction, and their contribution is gender-dependent.
Article
Genetics & Heredity
Meng Lin, Danny S. Park, Noah A. Zaitlen, Brenna M. Henn, Christopher R. Gignoux
Summary: GWAS in admixed populations demonstrate higher statistical power in discovery and more accurate cross-population polygenic score estimates compared to single-ancestry cohorts. Common variant associations are more likely to replicate if first discovered in admixed populations and then transferred to ancestral populations.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Ivana Skrlec, Zrinka Biloglav, Jasminka Talapko, Snjezana Dzijan, Danijela Daus-Sebedak, Vera Cesar
Summary: This study investigated the association between MTNR1B gene polymorphisms, chronotype, and susceptibility to myocardial infarction. The case-control study included 199 myocardial infarction patients and 198 control participants without previous cardiovascular diseases, who were genotyped for MTNR1B polymorphisms. Chi-square tests revealed no significant association between allele and genotype distribution in myocardial infarction patients and controls. Additionally, there was no association between MTNR1B polymorphisms and chronotype in myocardial infarction patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Chunyan Su, Zhishan Zhang, Jintu Chen, Mengcha Tian, Conglian Wu, Tao Zhang
Summary: This study investigated the relationship between P2Y1 and P2Y12 genotypes and the risk of acute myocardial infarction (AMI) in the Quanzhou population, as well as the associations between P2Y1 and P2Y12 genotypes and ADP-induced platelet aggregation. The results showed that the H2 haplotype in the P2Y12 gene was associated with a higher risk of AMI. However, there was no association between P2Y1 and P2Y12 polymorphisms and AMI or ADP-induced platelet aggregation.
BMC CARDIOVASCULAR DISORDERS
(2023)
Article
Endocrinology & Metabolism
Edgar G. Dorsey-Trevino, Varinderpal Kaur, Josep M. Mercader, Jose C. Florez, Aaron Leong
Summary: GLP1R gene polymorphisms are associated with differences in GLP-1 levels, highlighting altered incretin signaling as a potential mechanism by which GLP1R gene variation affects the risk of type 2 diabetes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Cell Biology
Jie Zhang, Yexin Zhang, Xiaohui He, Shuai Wang, Shuchao Pang, Bo Yan
Summary: Autophagy and the TFEB gene may play crucial roles in acute myocardial infarction (AMI). Novel regulatory variants of the TFEB gene, identified in AMI patients, were found to affect gene expression and could potentially contribute to the development of AMI as rare risk factors.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Wenwen Wei, Xin Wang, Yuanzhong Zhou, Xuejun Shang, Hongsong Yu
Summary: Pregnancy-induced hypertension (PIH) is a severe pregnancy complication that can lead to maternal mortality. Various genetic factors have been shown to play an important role in the occurrence and development of PIH. This review summarizes the genetic risk factors involved in the renin-angiotensin system, endothelin system, inflammatory factors, oxidative stress, and other functional networks that may contribute to the pathogenesis of PIH.
Article
Cardiac & Cardiovascular Systems
Jonathan Hinton, Mark Nihal Mariathas, Lavinia Gabara, Rick Allan, Zoe Nicholas, Chun Shing Kwok, Sanjay Ramamoorthy, Alison Calver, Simon Corbett, Richard J. Jabbour, Michael Mahmoudi, John Rawlins, Rohit Sirohi, James Richard Wilkinson, Paul Cook, Glen Philip Martin, Mamas A. Mamas, Nick Curzen
Summary: This study aimed to assess the relationship between cTn concentration and medium-term mortality in a large hospital population. The results showed a significant correlation between elevated cTn concentration and mortality.
Article
Medicine, General & Internal
Maha Daghestani, Nashwa Othman, Mohammed A. Omair, Fahidah Alenzi, Maha A. Omair, Eman Alqurtas, Shireen Amin, Arjumand Warsy
Summary: This study conducted an investigation on the Saudi population and found that 6 single nucleotide polymorphisms (SNPs) were significantly associated with rheumatoid arthritis (RA), with 4 of them having a protective effect. Two SNPs showed significantly higher heterozygote frequencies in the control group compared to the patients. This indicates considerable heterogeneity in the genetics of RA in different populations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Letter
Hematology
Carla Valsecchi, Roberta Gualtierotti, Sara Arcudi, Alessandro Ciavarella, Lucia Schiavone, Cristina Novembrino, Simona Maria Siboni, Pier Mannuccio Mannucci, Flora Peyvandi
Article
Hematology
Lynn Malec, An Van Damme, Anthony K. C. Chan, Mariya Spasova, Nisha Jain, Charlotte Sensinger, Jennifer Dumont, Stefan Lethagen, Manuel Carcao, Flora Peyvandi
Summary: Inhibitor development remains a major challenge in factor VIII replacement therapy. The verITI-8 study evaluated the use of a recombinant FVIII Fc fusion protein (rFVIIIFc) for immune tolerance induction in males with severe hemophilia A and high-titer inhibitors. The study showed that rFVIIIFc achieved tolerization in a significant number of patients within a short time period, and adverse events were generally well tolerated.
Editorial Material
Gastroenterology & Hepatology
Wolfgang Miesbach, Graham R. Foster, Flora Peyvandi
JOURNAL OF HEPATOLOGY
(2023)
Review
Hematology
Amy D. Shapiro, Brandon M. Hardesty, Flora Peyvandi, Alfonso Iorio
Summary: Life expectancy for persons with hemophilia has increased due to advances in treatment, but they are now more likely to be affected by conditions associated with aging. This study analyzed the prevalence of bleeding and thrombotic events in hemophilia populations compared to the general population. The results showed consistently higher rates of bleeding events in hemophilia populations, while the prevalence of arterial thrombosis varied.
RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Hematology
Frank W. G. Leebeek, Flora Peyvandi, Andreas Tiede, Giancarlo Castaman, Miguel Escobar, Michael Wang, Bulent Zulfikar, Sophie Susen, Wolfgang Miesbach, Scarlett Wang, Yi Wang, Jingmei Zhang, Gulden Ozen
Summary: This study demonstrates the efficacy and safety of recombinant von Willebrand factor (rVWF) prophylaxis in patients with type 3 von Willebrand disease (VWD). The results show that rVWF prophylaxis significantly reduces bleeding rates in patients previously treated with on-demand VWF therapy or plasma-derived VWF prophylaxis. These findings highlight the effectiveness and safety of rVWF prophylaxis in type 3 VWD patients.
EUROPEAN JOURNAL OF HAEMATOLOGY
(2023)
Article
Hematology
Samin Mohsenian, Omid Seidizadeh, Roberta Palla, Mohammad Jazebi, Azita Azarkeivan, Somayeh Moazezi, Mohammad Reza Baghaipour, Marzia Menegatti, Flora Peyvandi
Summary: This study compared the effectiveness of ISTH-BAT and EN-RBD-BSS in identifying patients with CFDs. Both tools were found to have a certain level of accuracy, and showed significant correlation with Fg:C for patients with quantitative deficiencies.
Review
Hematology
Piet Meijer, Flora Peyvandi, Guy Young, Rajiv Pruthi, Silmara de Lima Montalvao, Steve Kitchen
Summary: This guidance document provides recommendations on the measurement of factor VIII (FVIII) and factor IX (FIX) inhibitors, including screening, assay principle, sample and testing requirements, interpretation, quality assurance, interferences, and recent developments. It focuses on standardizing the laboratory measurement of FVIII and FIX type I inhibitors based on published data and expert opinion.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2023)
Article
Medicine, General & Internal
J. Mahlangu, R. Kaczmarek, A. von Drygalski, S. Shapiro, S. -C. Chou, M. C. Ozelo, G. Kenet, F. Peyvandi, M. Wang, B. Madan, N. S. Key, M. Laffan, A. L. Dunn, J. Mason, D. V. Quon, E. Symington, A. D. Leavitt, J. Oldenburg, H. Chambost, M. T. Reding, K. Jayaram, H. Yu, R. Mahajan, K. -M. Chavele, D. B. Reddy, J. Henshaw, T. M. Robinson, W. Y. Wong, S. W. Pipe
Summary: This study demonstrates the long-term effectiveness and safety of valoctocogene roxaparvovec therapy in reducing bleeding events in men with severe hemophilia A. The pharmacokinetic modeling suggests a half-life of 123 weeks for the transgene-derived factor VIII production system. Models also indicate a similar relationship between factor VIII activity and bleeding episodes as observed in individuals with mild-to-moderate hemophilia A using epidemiologic data.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Multidisciplinary Sciences
Teresa Fazia, Francesco Bubbico, Andrea Nova, Chiara Buizza, Herald Cela, Davide Iozzi, Beril Calgan, Federica Maggi, Valentina Floris, Irene Sutti, Salvatore Bruno, Alberto Ghilardi, Luisa Bernardinelli
Summary: The pressures and responsibilities of medical school have a negative impact on the personal wellbeing of medical students, leading to high levels of anxiety, emotional discomfort, and stress. This study evaluated the effectiveness of a comprehensive Mindfulness-Based Intervention in reducing this burden. The intervention, which included meditation classes, dietary advice, and yoga sessions, was found to significantly reduce perceived stress, improve mental wellbeing and emotional regulation, enhance resilience, decrease mind-wandering, improve attentional control, and reduce overall distress.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Gerardo Salvato, Elvira Inglese, Teresa Fazia, Francesco Crottini, Daniele Crotti, Federica Valentini, Giulio Palmas, Alessandra Bollani, Stefania Basilico, Martina Gandola, Giorgio Gelosa, Davide Gentilini, Luisa Bernardinelli, Andrea Stracciari, Francesco Scaglione, Elio Clemente Agostoni, Gabriella Bottini
Summary: COVID-19 recovery may lead to short- and long-term cognitive failures, with controversial underlying risk factors. This study investigated the association between disease course severity, sex at birth, and the odds of persistent cognitive failures after recovery. Results showed that females with a mild course of COVID-19 had a higher risk of persistent mental fatigue, particularly related to electrolyte imbalance during hospitalization. These findings have important implications for the clinical management of hospitalized COVID-19 patients, emphasizing the need to monitor electrolyte levels, especially in females with mild disease.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Hematology
Paola Colpani, Luciano Baronciani, Francesca Stufano, Giovanna Cozzi, Marco Boscarino, Maria Teresa Pagliari, Eugenia Biguzzi, Flora Peyvandi
Summary: This study evaluated four different assays to diagnose and detect various von Willebrand disease (VWD) variants. The VWF:GPIbM-automated assay was the most effective in diagnosing type 2B, while the VWF:RCo assays were the most effective in detecting type 2M and 2M/2A variants. The VWF:GPIbM ELISA overestimated the activity of type 2B patients lacking high-molecular-weight multimers (HMWM). Using a VWF activity/VWF:antigen ratio cut-off of 0.70 reduced the number of misdiagnosed patients by half.
RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Hematology
Ana Boban, Fariba Baghaei, Fijnvandraat Karin, Robert Klamroth, Wolfgang Miesbach, David Stephensen, Mary Kavanagh, Declan Noone, Miguel Crato, Flora Peyvandi
Summary: This article introduces the background and purpose of international certification of haemophilia centres in Europe, as well as the methods and results of establishing a new accreditation protocol.
Article
Hematology
Ilaria Cutica, Mimosa Mortarino, Isabella Garagiola, Gabriella Pravettoni, Flora Peyvandi
Summary: This study found that the beliefs and emotions, as well as cognitive factors such as decision-making style, risk perception, coping strategies, and need for cognitive closure, may influence the reproductive decisions of haemophilia carriers (HCs). HCs with negative early-life experiences and high concerns for their children's health, as well as logical reasoning, active coping style, and high need for certainty, tend to choose diagnostic prenatal tests. Therefore, this study highlights the influence of negative early-life experiences and cognitive factors on the prenatal test choice of HCs.
Article
Hematology
Pasquale Agosti, Simona Maria Siboni, Sara Scardo, Adriana Torri, Roberta Gualtierotti, Flora Peyvandi
Summary: This study aimed to identify the minimum FVIII levels necessary to prevent joint bleeds in patients with hemophilia A. The findings suggest important implications for the design of prophylactic therapies for moderate and severe hemophilia A.
Letter
Hematology
Paola Colpani, Luciano Baronciani, Giovanna Cozzi, Maria Teresa Pagliari, Eugenia Biguzzi, Flora Peyvandi
RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
(2023)