Results 71 to 80 of about 11,291,129 (270)

Amyloid Light Chain Amyloidosis Involving the Heart and Temporal Arteries, Mimicking Giant Cell Arteritis

JACC: Case Reports
Background: Amyloid light chain (AL) amyloidosis is an uncommon multisystem condition. We report a globally unique case of a patient with AL amyloidosis affecting the heart and temporal arteries.
Ameer Rashed, MBBS, BSc, Ezara Fernandes, MBChB, MSc, Ritsuko Saito, BMBS, Michael Stewart, MBChB, Ernest Wong, MBBCh, BAO, BMedsci, MSc, Kaushik Guha, MBBS, BSc (Hons), MD   +5 more
doaj   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Incidence and prevalence of light chain amyloidosis in the United States in 2019–2021 using Optum EHR data

Scientific Reports
Immunoglobulin light chain amyloidosis (AL amyloidosis) is among the most common forms of systemic amyloidosis. Using electronic health records (EHR) data from the United States, we aimed to estimate the incidence and prevalence of AL amyloidosis over ...
Pedro A. Laires, Shona Fang, Jennifer Evans, Jeffrey Thompson, Abhishek Gaur, Brendon Staruk, Ankita Gupta, Richa Manwani   +7 more
doaj   +1 more source

Heart amyloidosis

, 2023
У статті висвітлені останні наукові дані щодо клініки, діагностики та сучасного лікування амілоїдозу серця. Особлива увага приділена особливостям клінічного перебігу та відмінності в діагностиці й лікуванні різних типів серцевого амілоїдозу, насамперед ...
Бутко, Олена Олександрівна, Butko, Olena Oleksandrivna   +1 more
core   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Kidney-limited AL amyloidosis: a case report and review of the literature

Journal of Community Hospital Internal Medicine Perspectives, 2021
Amyloidosis involves the deposition of abnormal proteins in various tissues and results in progressive organ dysfunction, commonly affecting multiple organs.
Sara Velayati, Alexander Belkin, Gurwinder Sidhu Kumar, Zubin J Tharayil, Neeru Kumar, Samir Patel   +5 more
doaj   +1 more source

Perspectives in treatment of AL amyloidosis [PDF]

British Journal of Haematology, 2007
SummaryLight chain (AL) amyloidosis is the most frequently diagnosed form of systemic amyloid in the western world. The historically poor prognosis of AL amyloidosis appears to be improving with currently reported median survival of c. 40 months compared to 13 months in the early 1990s when low‐dose oral melphalan was the mainstay of treatment ...
Ashutosh D, Wechalekar, Philip N, Hawkins, Julian D, Gillmore   +2 more
openaire   +2 more sources

Advances in pharmacotherapy for cardiac amyloidosis

, 2021
Amyloidosis is a group of progressive and devastating disorders resulting from extracellular deposition of misfolded proteins into tissues. When deposition of fibrils occurs in cardiac tissues, this systemic disease can lead to a very poor prognosis ...
Marcatti, M, Di Maio, S, Spoladore, R, Falasconi, G, Slavich, M, Margonato, A, Fragasso, G, Turco, A, Fiore, G   +8 more
core   +1 more source

Regulatory harmonization: Evolution, globalization and future directions

British Journal of Clinical Pharmacology, EarlyView.
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm, Elaine Y. L. Blair, Christine Y. Lu   +2 more
wiley   +1 more source

Heart transplantation in cardiac amyloidosis

, 2022
It is known that the prognosis of patients affected by light-chain (AL) or transthyretin-related (TTR) amyloidosis is poor. TTR amyloidosis has usually shown a slower progression than AL amyloidosis, both hereditary TTR amyloidosis, where there is an ...
Di Nora, Concetta, Sponga, Sandro, Guzzi, Giorgio, Nalli, Chiara, Vendramin, Igor, Imazio, Massimo, Driussi, Mauro, Benedetti, Giovanni, Livi, Ugolino   +8 more
core   +2 more sources