Article
Virology
Young-Keol Cho, Jung-Eun Kim, Brian T. Foley
Summary: This study conducted a longitudinal analysis of the sequence length of KSB subtype HIV-1 over 30 years, revealing a gradual increase in sequence length before combination antiretroviral therapy, which subsequently decreased after treatment.
Article
Medicine, General & Internal
Sylwia Czajkowska, Joanna Rupa-Matysek, Kacper Nijakowski, Lidia Gil, Anna Surdacka, Tomasz Kulczyk
Summary: The usefulness of fractal analysis and radiomorphic indices in evaluating the risk of reduced bone density in patients with hemophilia is unclear.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Hematology
Amy Dericquebourg, Mathilde Fretigny, Nicolas Chatron, Brigitte Tardy, Christophe Zawadzki, Herve Chambost, Christine Vinciguerra, Yohann Jourdy
Summary: This study aimed to characterize deep intronic variants in hemophilia B patients for whom genetic investigations failed. Whole F9 sequencing was performed in 17 genetically unsolved hemophilia B patients. A total of 9 candidate variants were identified and their pathogenic impact was studied. Five variants were classified as likely pathogenic and four variants remained of unknown significance. The study successfully identified the hemophilia B-causing variant in 76% of the families included.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Hematology
Jan Astermark, Cihan Ay, Manuela Carvalho, Roseline D'Oiron, Philippe De Moerloose, Gerard Dolan, Pierre Fontana, Cedric Hermans, Pal Andre Holme, Olga Katsarou, Gili Kenet, Robert Klamroth, Maria Elisa Mancuso, Natascha Marquardt, Ramiro Nunez, Ingrid Pabinger, Robert Tait, Paul van der Valk
Summary: An investigation into late-onset inhibitors in patients with hemophilia A and B aged >= 40 years found that prophylaxis may be beneficial in older patients with severe HA to maintain tolerance at a higher age. The study did not identify a second peak of inhibitor development in older patients with hemophilia.
THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Clinical Neurology
Guido Primiano, Valerio Brunetti, Catello Vollono, Anna Losurdo, Rossana Moroni, Giacomo Della Marca, Serenella Servidei
Summary: In a large cohort of patients with genetically confirmed mitochondrial diseases, the study described the prevalence and characteristics of sleep-disordered breathing (SDB). The results showed a higher prevalence of SDB in mitochondrial diseases compared to general population-based data, with differences in SDB types among patients with different phenotypes. Early identification of SDB is crucial in the management of these fragile patients.
Article
Hematology
Anne-Fleur Zwagemaker, Fabienne R. Kloosterman, Samantha C. Gouw, Sara Boyce, Paul Brons, Marjon H. Cnossen, Peter W. Collins, Jeroen Eikenboom, Charles Hay, Rutger C. C. Hengeveld, Shannon Jackson, Caroline A. M. Klopper-Tol, Marieke J. H. A. Kruip, Britta Laros-van Gorkom, Christoph Male, Laurens Nieuwenhuizen, Susan Shapiro, Karin Fijnvandraat, Michiel Copens
Summary: This study investigated the discrepancy between one-stage and chromogenic assays of coagulation factor activity in moderate and mild hemophilia A and B patients. The results showed that only a small number of patients exhibited a discrepancy between the two assays, and this discrepancy was largely determined by laboratory variables.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Cell Biology
Xiao-Fang Wang, Hui Chen, Peng-Juan Huang, Zhuo-Kun Feng, Zi-Qi Hua, Xiang Feng, Fang Han, Xiao-Tao Xu, Ren-Juan Shen, Yang Li, Zi-Bing Jin, Huan-Yun Yu
Summary: This study identified multiple novel and known disease-causing mutations in patients with congenital nystagmus, expanding the mutational spectrum. The results showed that FRMD7 and GPR143 are mutation hotspots for CN, with a significant difference in mutation detection rates between different groups of patients.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, General & Internal
Sylwia Czajkowska, Joanna Rupa-Matysek, Ewelina Wojtasinska, Kacper Nijakowski, Lidia Gil, Anna Surdacka, Tomasz Kulczyk
Summary: This study aimed to evaluate the risk of developing osteoporosis in patients with hemophilia using radiomorphometric indices derived from panoramic X-rays and selected blood markers. The results showed significant differences in BGLAP, CH3, and PMI values between the study and control groups. Multivariate logistic regression analysis indicated the predictive value of PMI, BGLAP, and CH3. Simultaneous use of PMI value and BGLAP and CH3 levels can help identify hemophilic patients who require a detailed diagnosis of osteoporosis with DXA.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Jacob J. Mayfield, Andrew D. Leavitt, Talha Tanriverdi, Krishan Soni, Thomas A. Ports, M. Roselle Abraham
Summary: Therapeutic advances have led to improved life expectancy in hemophilia patients, resulting in an increased prevalence of coronary artery disease. However, there is limited knowledge on the optimal management of acute coronary syndrome in these patients. This study presents a case highlighting potential harm from the current approach and proposes informatics-based guidelines for early identification and treatment of these patients, involving hematology experts and collecting data for further research.
JOURNAL OF THROMBOSIS AND THROMBOLYSIS
(2022)
Article
Endocrinology & Metabolism
Huijjuan Wang, Wenxia Wang, Xi Chen, Hailong Shi, Yinmin Shi, Guifeng Ding
Summary: This study analyzed the TPO mutation spectrum in patients with CH in northwest China for the first time. The findings indicated that TPO mutations were not a common cause of CH in China, and the functional data helped clarify the structure-function relationship of the TPO protein.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Multidisciplinary Sciences
Marcel Prasetyo, Ratna Moniqa, Angela Tulaar, Joedo Prihartono, Stefanus Imanuel Setiawan
Summary: This study aimed to explore the correlation between HEAD-US and HJHS in hemophiliac patients with joint problems in Indonesia. The results showed a moderate correlation between HEAD-US and HJHS scores, indicating that HEAD-US can provide additional value in assessing the joint status in hemophilia patients who received episodic treatment.
Article
Oncology
Thomas Hueso, Anne-Sophie Godron, Emilie Lanoy, Jerome Pacanowski, Laura Levi, Emmanuelle Gras, Laure Surgers, Amina Guemriche, Jean-Luc Meynard, France Pirenne, Salim Idri, Pierre Tiberghien, Pascal Morel, Caroline Besson, Remy Dulery, Sylvain Lamure, Olivier Hermine, Amandine Gagneux-Brunon, Nathalie Freymond, Sophie Grabar, Karine Lacombe
Summary: Patients with hematological malignancy and COVID-19 have a high mortality rate. COVID-19 convalescent plasma (CCP) therapy shows promise in transferring neutralizing antibodies to enhance the immune response. In patients with B-cell lymphoid disease who have received anti-CD20 therapy, CCP treatment is associated with a lower mortality rate.
Article
Pharmacology & Pharmacy
Yan Liu, Rongjuan Chen, Wenhui Liu, Lanlan Si, Le Li, Xiaodong Li, Zengtao Yao, Hao Liao, Jun Wang, Yuanhua Li, Jun Zhao, Dongping Xu
Summary: MDR HBV, with mutations resistant to both LAM/LdT/ETV and ADV, can be difficult to treat. The study identified a variety of MDR mutation patterns, with different responses to therapies, and found that TDF/TDF+ETV showed higher inhibitory rates on MDR HBV compared to ADV + ETV, especially for ETVr + ADVr strains. This has important clinical implications for resistance management.
ANTIVIRAL RESEARCH
(2021)
Article
Hematology
Eva K. Kempers, Calvin B. van Kwawegen, Joke de Meris, Manon C. W. Spaander, Saskia E. M. Schols, Paula F. Ypma, Floor C. J. I. Heubel-Moenen, Lize F. D. van Vulpen, Michiel Coppens, Johanna G. van der Bom, Karin Fijnvandraat, Karina Meijer, Jeroen Eikenboom, Samantha C. Gouw, Frank W. G. Leebeek, Marieke J. H. A. Kruip
Summary: The study evaluates the performance of FIT in patients with Von Willebrand disease (VWD) or hemophilia. The false-positive rate of FIT is higher in these patients compared to the general population. However, the detection rate of colorectal cancer (CRC) and/or advanced adenoma (AA) is high in hemophilia patients.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Review
Hematology
Federico Germini, Noella Noronha, Binu Abraham Philip, Omotola Olasupo, Drashti Pete, Tamara Navarro, Arun Keepanasseril, Davide Matino, Kerstin de Wit, Sameer Parpia, Alfonso Iorio
Summary: This study conducted a systematic review on the risk of bleeding in patients with hemophilia, and found that factor levels, bleeding history, and physical activity are closely related to the risk of bleeding. No relevant risk assessment model for bleeding in patients with hemophilia was found, and further exploration of other risk factors is needed.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Hematology
Connie H. Miller, Anne S. Rice, Brian Boylan, Amanda B. Payne, Fiona M. Kelly, Miguel A. Escobar, Joan Gill, Cindy Leissinger, J. Michael Soucie
AMERICAN JOURNAL OF HEMATOLOGY
(2015)
Article
Hematology
Christopher E. Walsh, J. Michael Soucie, Connie H. Miller
AMERICAN JOURNAL OF HEMATOLOGY
(2015)
Editorial Material
Hematology
Connie H. Miller
Letter
Hematology
N. G. Ishaku, N. S. Key, C. H. Miller, B. Nielsen, T. Buckner, S. -L. Chen, W. C. Hooper, J. M. Soucie
Article
Hematology
B. Boylan, A. S. Rice, C. De Staercke, M. E. Eyster, H. M. Yaish, C. M. Knoll, C. J. Bean, C. H. Miller
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2015)
Editorial Material
Hematology
Connie H. Miller
THROMBOSIS RESEARCH
(2015)
Article
Microbiology
Tengguo Li, Elizabeth R. Unger, Dhwani Batra, Mili Sheth, Martin Steinau, Jean Jasinski, Jennifer Jones, Mangalathu S. Rajeevan
JOURNAL OF CLINICAL MICROBIOLOGY
(2017)
Editorial Material
Pathology
Mangalathu S. Rajeevan, Tengguo Li, Elizabeth R. Unger
JOURNAL OF MOLECULAR DIAGNOSTICS
(2017)
Article
Hematology
Robert F. Sidonio, Fatima D. Mili, Tengguo Li, Connie H. Miller, William C. Hooper, Michael R. DeBaun, Michael Soucie
AMERICAN JOURNAL OF HEMATOLOGY
(2014)
Article
Hematology
B. Boylan, A. S. Rice, A. L. Dunn, M. D. Tarantino, D. B. Brettler, J. C. Barrett, C. H. Miller
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2015)
Article
Biochemistry & Molecular Biology
Tengguo Li, William G. Kelly
NUCLEIC ACIDS RESEARCH
(2014)
Article
Biotechnology & Applied Microbiology
Tengguo Li, Elizabeth R. Unger, Mangalathu S. Rajeevan
Article
Virology
Alexandre Lomsadze, Tengguo Li, Mangalathu S. Rajeevan, Elizabeth R. Unger, Mark Borodovsky
Article
Virology
Mangalathu S. Rajeevan, Sonya Patel, Tengguo Li, Elizabeth R. Unger
Summary: High-throughput HPV typing assays with increased automation, faster turnaround and type-specific digital readout would facilitate studies monitoring the impact of HPV vaccination. The NanoString nCounter platform showed good efficacy in detecting and digitally reading 48 HPV types in a single reaction. Further studies are needed to evaluate the reproducibility and analytic validation of the assay with a larger number of samples.