Results 61 to 70 of about 581,861 (308)

Upacicalcet: A Novel Intravenous Calcimimetic Agent for Patients Undergoing Hemodialysis With Secondary Hyperparathyroidism

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Secondary hyperparathyroidism (SHPT) is a common complication in patients receiving maintenance dialysis, driven by calcium and phosphate metabolism disturbances. Calcimimetics are central to the management of SHPT by enhancing calcium‐sensing receptor sensitivity and reducing parathyroid hormone secretion.
Fumihiko Koiwa, Daisuke Honda, Seigo Akari, Tadao Akizawa   +3 more
wiley   +1 more source

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

Case Reports in Pediatrics, 2016
Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and ...
Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura   +3 more
doaj   +1 more source

Adjunctive Therapeutic Plasma Exchange in Refractory Adult‐Onset Still's Disease Complicated by Secondary Macrophage Activation Syndrome: A Single‐Center Experience

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Adult‐onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS) carries substantial mortality. The role of therapeutic plasma exchange (TPE) remains uncertain. Methods We retrospectively analyzed patients with AOSD‐MAS treated with TPE at a single‐center.
Masataka Ueda, Tomohiro Saito, Masahide Mizobuchi, Tomoki Shimomura, Saki Kawamori, Mitsuru Kawanishi, Natsuko Hattori, Jo Sugiyama, Satoshi Tsubata, Hanami Horiguchi, Kazuki Abe, Nao Iida, Yuki Kajio, Nao Oguro, Ryo Yanai, Hirokazu Honda   +15 more
wiley   +1 more source

Vanishing Mandible: A Rare Case Report with Accent to Recent Concepts on Aetio-pathogenesis [PDF]

Journal of Clinical and Diagnostic Research, 2015
Massive osteolysis is a rare idiopathic bone disease resulting in progressive destruction of bone. Considering the rarity of encountering this fascinating bone disease, it is often misinterpreted as some other osteolytic disease.
Durairaj Duraisamy, Jai Santhosh Manikandan Veerasamy, Davidson Rajiah, Bharathi Mani   +3 more
doaj   +1 more source

KITD816V+ systemic mastocytosis associated with KITD816V+ acute erythroid leukaemia: first case report with molecular evidence for same progenitor cell derivation [PDF]

, 2009
Toll-like receptor (TLR)-9 recognizes CpG motifs in microbial DNA. TLR9 signalling stimulates innate antimicrobial immunity and modulates adaptive immune responses including autoimmunity against chromatin, e.g., in systemic lupus erythematosus (SLE ...
H-P Horny, K K Reichard, K Sotlar, M K Foucar, S A McClintock-Treep   +4 more
core   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Sclerosis of the clavicle––A challenging diagnosis

Radiology Case Reports, 2022
Condensing osteitis of the clavicle is a rare benign disease described as an increase in bone density at the medial end of the clavicle. Its clinical and radiographic presentation can frequently be equivocal and tissue sampling is necessary for ...
Ty A. Davis, DO, Jacklyn Garcia, BS, Thelma Rocio Jimenez Mosquea, MD, Stephanie D. Zarate, PA-C, Andrew A. Renshaw, MD, Ana C. Belzarena, MD, MPH   +5 more
doaj   +1 more source

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts [PDF]

, 2017
Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance.
Ameur, Adam, Coxon, Fraser P., Dahl, Niklas, Hallmans, Göran, Helfrich, Miep H., Henning, Petra, Kellgren, Therese G., Klar, Joakim, Lerner, Ulf H., Lönnerholm, Torsten, McDermott, Emma, Rydén, Patrik, Sandström, Per-Erik, Stattin, Eva-Lena, Stecksen-Blicks, Christina, Wikström, Johan   +15 more
core   +1 more source

Perspectives in educating molecular pathologists on liquid biopsy: Toward integrative, equitable, and decentralized precision oncology

Molecular Oncology, EarlyView.
Liquid biopsy enables minimally invasive, real‐time molecular profiling through analysis of circulating biomarkers in biological fluids. This Perspective highlights the importance of training pathologists through integrative educational programs, such as the European Masters in Molecular Pathology, to ensure effective and equitable implementation of ...
Marius Ilié, Umberto Malapelle, Catherine Alix‐Panabières, Claus Lindbjerg Andersen, Sandra Chlebowski, Vivien Lake, Caroline Lacoux, Virginie Lespinet‐Fabre, Olivier Bordone, Simon Heeke, Christophe Bontoux, Ellen Heitzer, Klaus Pantel, Paul Hofman   +13 more
wiley   +1 more source

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration [PDF]

, 2014
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort
Alexopoulos, Panagiotis, Almeida, Maria Rosário, Archetti, Silvana, Bagnoli, Silvia, Benussi, Luisa, Binetti, Giuliano, Boada, Mercè, Bonvicini, Cristian, Borroni, Barbara, Chiang, Huei-Hsin, Clarimón, Jordi, Cras, Patrick, Cruts, Marc, De Deyn, Peter Paul, De Jonghe, Peter, De Mendonça, Alexandre, Dermaut, Bart, Deschamps, William, Diehl-Schmid, Janine, Dillen, Lubina, Dols Icardo, Oriol, Engelborghs, Sebastiaan, Fabrizi, Gian Maria, Frisoni, Giovanni B., Gelpi, Ellen, Ghidoni, Roberta, Graff, Caroline, Haack, Tobias B., Heneka, Michael, Hernández, Isabel, Jessen, Frank, Jordanova, Albena, Kovacs, Gabor G., Laureys, Annelies, Llado Plarrumani, Albert, Lleó, Alberto, Maetzler, Walter, Martin, Jean-Jacques, Matej, Radoslav, Mattheijssens, Maria, Merlin, Celine, Miltenberger-Miltényi, Gabriel, Nacmias, Benedetta, Ortega-Cubero, Sara, Padovani, Alessandro, Parobkova, Eva, Pastor, Pau, Peeters, Karin, Perneczky, Robert, Prokisch, Holger, Ramirez, Alfredo, Razquin, Cristina, Robberecht, Wim, Ruiz Laza, Agustín, Salmon, Eric, Sanchez-Valle, Raquel, Santana, Isabel, Santens, Patrick, Santiago, Beatriz, Sarafov, Stayko, Schöls, Ludger, Sieben, Anne, Simões do Couto, Frederico, Sleegers, Kristel, Smets, Katrien, Sorbi, Sandro, Strom, Tim M., Ströbel, Thomas, Synofzik, Matthis, Testi, Silvia, Thonberg, Hakan, Tournev, Ivailo, Universitat Autònoma de Barcelona. Departament de Medicina, Van Broeckhoven, Christine, Van Damme, Philip, Van Den Broeck, Marleen, Van der Zee, Julie, Van Langenhove, Tim, Vandenberghe, Rik, Vandenbulcke, Mathieu, Vom Hagen, Jennifer Müller   +80 more
core   +4 more sources