Results 81 to 90 of about 113,823 (359)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Importance of Inhibitor Surveillance During Emicizumab Prophylaxis in Young Children With Hemophilia: An Illustrative Case Series

Case Reports in Hematology
Hemophilia is an X-linked inherited bleeding disorder associated with bleeding, which starts in infancy. The age of initiation of prophylaxis with clotting factor concentrate is limited by the intravenous mode of administration. Emicizumab, a Factor VIII
Kelly A. Bush, Marc Durocher, Jacqueline Limjoco, Courtney D. Thornburg   +3 more
doaj   +1 more source

An international registry of patients with plasminogen deficiency (HISTORY)

Haematologica, 2020
Plasminogen deficiency is an ultra-rare multisystem disorder characterized by the development of fibrin-rich pseudomembranes on mucous membranes. Ligneous conjunctivitis, which can result in vision impairment or loss, is the most frequent symptom ...
Amy D. Shapiro, Marzia Menegatti, Roberta Palla, Marco Boscarino, Christopher Roberson, Paolo Lanzi, Joel Bowen, Charles Nakar, Isaac A. Janson, Flora Peyvandi   +9 more
doaj   +1 more source

Surgical outcomes in people with hemophilia A taking emicizumab prophylaxis: experience from the HAVEN 1-4 studies [PDF]

, 2022
Rebecca Kruse‐Jarres, Flora Peyvandi, Johannes Oldenburg, Tiffany Chang, Sammy Chebon, Michelle Y. Doral, Stacy E. Croteau, Thierry Lambert, Christine L. Kempton, Steven W. Pipe, Richard H. Ko, Benjamin Trzaskoma, Christophe Dhalluin, Nives Selak Bienz, Markus Niggli, Michaela Lehle, Ido Paz‐Priel, Guy Young, Víctor Jiménez‐Yuste   +18 more
openalex   +1 more source

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

Molecular Study of Occult Hepatitis C Infection among Iranian Hemophilia Patients Treated with Direct-acting Antiviral Agents

Journal of Medical Microbiology and Infectious Diseases, 2020
Introduction: A new pathological form of HCV named as occult HCV infection (OCI) has been recently characterized by the presence of HCV RNA in liver biopsy and/or peripheral blood mononuclear cell specimens (PBMCs) and the absence of detectable ...
Elnaz Agi, Saber Asghari, Ali Namvar, Niloofar Khairkhah, Niloofar Naderi, Ali Anvar, Alireza Azizi Saraji, Azam Bolhassani   +7 more
doaj  

Strategies for Hemophilia Treatment, a literature review of current evidence

مجله دانشگاه علوم پزشکی بیرجند, 2023
Hemophilia is an inherited bleeding disorder caused by malfunctioning or lacking blood coagulation factor VIII (hemophilia A) or IX (hemophilia B). Currently, the main treatments for these X-linked diseases are replacement therapy using periodic and ...
Fahimeh Ghasemi, Nafiseh Erfanian, Samira Karbasi, Alireza Zomorodipour   +3 more
doaj  

Perioperative blood loss during joint replacement: comparison between patients with and without hemophilia

Journal of Orthopaedic Surgery and Research, 2022
Background Although arthroplasty provides satisfactory pain relief, functional improvement, and reduced flexion contracture in patients with hemophilia arthropathy, bleeding remains the primary problem associated with hemophilic arthropathy joint ...
Shanyou Yuan, Lixia Song, Haoli Jiang, Jinghua Wang, Xianjia Ning, Wenxue Jiang   +5 more
doaj   +1 more source

Disclosure of Maternal HIV Status to Children: To Tell or Not To Tell . . . That Is the Question [PDF]

, 2007
HIV-infected mothers face the challenging decision of whether to disclose their serostatus to their children. From the perspective of both mother and child, we explored the process of disclosure, providing descriptive information and examining the ...
A. Shaffer, B. J. Antle, B. Rime, B. W. C. Forsyth, C. Finkenauer, C. Finkenauer, C. Nostlinger, C. S. Edelbrock, D. A. Murphy, D. A. Murphy, D. A. Murphy, D. A. Murphy, D. A. Murphy, D. J. Pilowsky, D. Melvin, E. W. Schrimshaw, G. E. Wyatt, J. Faithfull, J. M. Simoni, J. Ware, K. E. Grant, K. J. Petrie, L. Armistead, L. Armistead, L. Armistead, L. Armistead, L. J. Bauman, L. Moneyham, L. S. Radloff, L. S. Wiener, M. J. Rotheram-Borus, M. L. Lee, M. Lipson, P. Lester, R. A. Ostrom, R. L. Sowell, R. N. Jamison, S. Dorsey, S. Esposito, S. F. Nagler, S. Harter, T. L. Tompkins, T. M. Achenbach, T. M. Achenbach, T. M. Achenbach, Tanya L. Tompkins, V. N. Niebuhr   +46 more
core   +3 more sources

Current Therapeutic Approach to Acute Myocardial Infarction in Patients with Congenital Hemophilia [PDF]

, 2021
Minerva Codruța Bădescu, Manuela Ciocoiu, Elena Rezuş, Oana Viola Bădulescu, Daniela Maria Tănase, Anca Ouatu, Nicoleta Dima, Ana Roxana Ganceanu-Rusu, Diana Popescu, Petronela Nicoleta Seritean Isac, Tudor-Marcel Genes, Ciprian Rezuș   +11 more
openalex   +1 more source