Results 91 to 100 of about 181,705 (382)

Treatment of ankylosing spondylitis and extra-articular manifestations in everyday rheumatology practice [PDF]

, 2009
The SpAs are a group of overlapping, chronic, inflammatory rheumatic diseases including AS, a chronic inflammatory disease primarily affecting the SI joints.
Elewaut, Dirk, Matucci-Cerinic, Marco
core   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Amyloidosis [PDF]

Rheumatic Disease Clinics of North America, 2013
Amyloidosis is the name for protein-folding diseases characterized by extracellular deposition of a specific soluble precursor protein that aggregates in the form of insoluble fibrils. The classification of amyloidosis is based on the chemical characterization of the precursor protein. Deposition of amyloid is localized or systemic. The 4 main types of
openaire   +4 more sources

The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis

The Journal of Pathology: Clinical Research, 2019
The tissue diagnosis of amyloidosis and confirmation of fibril protein type, which are crucial for clinical management, have traditionally relied on Congo red (CR) staining followed by immunohistochemistry (IHC) using fibril protein specific antibodies ...
Tamer Rezk, Janet A Gilbertson, P Patrizia Mangione, Dorota Rowczenio, Nigel B Rendell, Diana Canetti, Helen J Lachmann, Ashutosh D Wechalekar, Paul Bass, Philip N Hawkins, Vittorio Bellotti, Graham W Taylor, Julian D Gillmore   +12 more
doaj   +1 more source

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Idiopathic recurrent pericarditis (IRP) is an orphan disease that carries significant morbidity, partly driven by corticosteroid dependence.
Claire J. Peet, Dorota Rowczenio, Ebun Omoyinmi, Charalampia Papadopoulou, Bella Ruth R. Mapalo, Michael R. Wood, Francesca Capon, Helen J. Lachmann   +7 more
doaj   +1 more source

Guidelines for high dose chemotherapy and stem cell transplantation for systemic AL amyloidosis: EHA-ISA working group guidelines

Amyloid: Journal of Protein Folding Disorders, 2021
AL amyloidosis is a systemic amyloidosis and is associated with an underlying plasma cell dyscrasia. High dose intravenous melphalan and autologous stem cell transplantation was developed for the treatment of AL amyloidosis in the early 1990s and was ...
V. Sanchorawala, M. Boccadoro, M. Gertz, U. Hegenbart, E. Kastritis, H. Landau, P. Mollee, A. Wechalekar, G. Palladini   +8 more
semanticscholar   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

Prognostic mortality factors in advanced light chain cardiac amyloidosis: A prospective cohort study

ESC Heart Failure
Aims Predicting mortality in severe AL cardiac amyloidosis is challenging due to elevated biomarker levels and limited thresholds for stratifying severe cardiac damage.
Amira Zaroui, Mounira Kharoubi, Romain Gounot, Silvia Oghina, Charlotte Degoutte, Melanie Bezard, Arnault Galat, Soulef Guendouz, Louise Roulin, Vincent Audard, Vincent Leroy, Emmanuel Teiger, Elsa Poullot, Valérie Molinier‐Frenkel, Fabien Le Bras, Karim Belhadj, Jean‐Philippe Bastard, Soraya Fellahi, Jason Shourick, Francois Lemonier, Thibaud Damy   +20 more
doaj   +1 more source

Glycosylation‐Dependent Stability of Human Pentraxin‐2 Revealed by Surface‐Induced Dissociation and Ion Mobility Mass Spectrometry

Angewandte Chemie International Edition, EarlyView.
The intricate glycosylation pattern of human Pentraxin‐2 (PTX‐2) poses a challenge in studying the structural impact of individual glycans. By combining surface‐induced dissociation (SID) or unfolding (SIU) with ion mobility mass spectrometry, we successfully differentiated the stability of glycoengineered PTX‐2 variants.
Philipp Bittner, Felix Kuhne, Adam Pruška, Julian A. Harrison, Natalie Preiss, Markus Haberger, Dietmar Reusch, Renato Zenobi   +7 more
wiley   +1 more source

Inhibition of the mechano-enzymatic amyloidogenesis of transthyretin: role of ligand affinity, binding cooperativity and occupancy of the inner channel

Scientific Reports, 2017
Dissociation of the native transthyretin (TTR) tetramer is widely accepted as the critical step in TTR amyloid fibrillogenesis. It is modelled by exposure of the protein to non-physiological low pH in vitro and is inhibited by small molecule compounds ...
Guglielmo Verona, P. Patrizia Mangione, Sara Raimondi, Sofia Giorgetti, Giulia Faravelli, Riccardo Porcari, Alessandra Corazza, Julian D. Gillmore, Philip N. Hawkins, Mark B. Pepys, Graham W. Taylor, Vittorio Bellotti   +11 more
doaj   +1 more source