Results 91 to 100 of about 71,732 (247)

Serum amyloidosis: a cardiac amyloidosis

European Heart Journal - Cardiovascular Imaging, 2023
Jeremy A Slivnick, Varun Subashchandran, Nitasha Sarswat, Amit R Patel   +3 more
openaire   +2 more sources

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Light Chain Monoclonal Gammopathy of Undetermined Significance: Diagnosis, Biology, and Clinical Management

European Journal of Haematology, EarlyView.
ABSTRACT Light chain monoclonal gammopathy of undetermined significance (LC‐MGUS) is defined by an abnormal serum free light chain ratio and elevated involved light chain in the absence of a detectable immunoglobulin heavy chain on immunofixation and of end‐organ damage attributable to a plasma cell disorder.
Sigurður Yngvi Kristinsson, Thórir Einarsson Long, Sigrún Thorsteinsdóttir   +2 more
wiley   +1 more source

Cardiac Amyloidosis

Heart Views, 2021
Salah Elbdri, Rachel Hajar
openaire   +3 more sources

Combating ageing beyond the cell: Emerging roles of extracellular proteostasis

The FEBS Journal, EarlyView.
Ageing challenges the body's ability to maintain a stable and functional proteome, leading to protein damage and aggregation both inside and outside cells. This review focuses on the less well understood mechanisms of extracellular protein quality control and how they become disrupted in ageing, particularly in neurodegenerative diseases.
Siddharth R. Venkatesh, Ivan Gallotta, Bolanle F. Olabiyi, Yoon Hee Choi, Sarah Inglesfield, Janet R. Kumita, Collin Y. Ewald, Della C. David   +7 more
wiley   +1 more source

Stringent patient selection improves outcomes in systemic light-chain amyloidosis after autologous stem cell transplantation in the upfront and relapsed setting

Haematologica, 2014
Christopher P. Venner, Julian D. Gillmore, Sajitha Sachchithanantham, Shameem Mahmood, Thirusha Lane, Darren Foard, Murielle Roussel, Lisa Rannigan, Simon DJ Gibbs, Jennifer H Pinney, Carol J. Whelan, Helen J. Lachmann, Philip N. Hawkins, Ashutosh D. Wechalekar   +13 more
doaj   +1 more source

Successful Bortezomib–Lenalidomide–Dexamethasone Therapy in a 72‐Year‐Old Patient With Sporadic Late‐Onset Nemaline Myopathy Associated With Monoclonal Gammopathy of Muscle Significance

Muscle &Nerve, EarlyView.
Hiroki Komatsu, Shogo Komaki, Meiko Maeda, Akatsuki Kubota, Mitsuhiro Yuasa, Mineo Kurokawa, Ryo Morishima, Satoko Uruha, Akinori Uruha, Ichizo Nishino, Masashi Hamada, Tatsushi Toda, Wataru Satake   +12 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Neurological affection and serum neurofilament light chain in wild type transthyretin amyloidosis

Scientific Reports
In contrast to inherited transthyretin amyloidosis (A-ATTRv), neuropathy is not a classic leading symptom of wild type transthyretin amyloidosis (A-ATTRwt). However, neurological symptoms are increasingly relevant in A-ATTRwt as well.
Helena F. Pernice, Adrian L. Knorz, Paul J. Wetzel, Carolin Herrmann, Harisa Muratovic, Finn Rieber, Eleonora Asaad, Gunnar Fiß, Gina Barzen, Elisabeth Blüthner, Fabian Knebel, Sebastian Spethmann, Daniel Messroghli, Bettina Heidecker, Anna Brand, Christoph Wetz, Carsten Tschöpe, Katrin Hahn   +17 more
doaj   +1 more source

Prognostic implications of right ventricular to pulmonary artery uncoupling in cardiac amyloidosis

Frontiers in Cardiovascular Medicine
BackgroundRight ventricular–pulmonary arterial (RV–PA) uncoupling in cardiac amyloidosis (CA) has been underexplored, with focus mainly on tricuspid annular plane systolic excursion (TAPSE)/pulmonary artery systolic pressure (PASP).
Aiste Monika Jakstaite, Aiste Monika Jakstaite, Anja Hänselmann, Anja Hänselmann, Samira Soltani, Samira Soltani, Eleonora Angelini, Eleonora Angelini, Michael Heuser, Michael Heuser, Michael Heuser, Vega Gödecke, Vega Gödecke, Stefan Gingele, Stefan Gingele, Thomas Skripuletz, Thomas Skripuletz, Johann Bauersachs, Johann Bauersachs, Udo Bavendiek, Udo Bavendiek, Dominik Berliner, Dominik Berliner   +22 more
doaj   +1 more source