Cardiac Involvement in a Patient Cohort With Val30Met Mutation Transthyretin Amyloidosis
Publication date: January 2019Source: Revista Española de Cardiología (English Edition), Volume 72, Issue 1Author(s): Tomás Ripoll-Vera, Juan Buades, Eugenia Cisneros, Yolanda Gómez, Juana Núñez, Manuel Raya
The Food and Drug Administration (FDA) has approved tafamidis meglumine (Vyndaqel) and tafamidis (Vyndamax) for the treatment of cardiomyopathy caused by transthyretin-mediated amyloidosis in adults. These are the first FDA-approved drug treatments for this rare genetic disorder.
In cortical regions of brains from individuals with preclinical or clinical Alzheimer's disease (AD), extracellular β-amyloid (Aβ) deposition precedes the aggregation of pathological intracellular tau (the product of the gene microtubule-associated protein tau (MAPT)). To our knowledge, current mouse models of tauopathy reconstitute tau pathology by overexpressing mutant human tau protein. Here, through a homologous recombination approach that replaced the entire murine Mapt gene with the human ortholog, we developed knock-in mice with humanized Mapt to create an in vivo platform for studying human tauopathy. Of ...
The differentiated assessment of functional parameters besides morphological changes is essential for the evaluation of prognosis in systemic immunoglobulin light chain (AL) amyloidosis.
Immunoglobulin light chain (AL) amyloidosis is a clonal plasma cell disorder characterized by production and deposition of misfolded immunoglobulin light chains into target tissues, leading to end-organ damage. Most therapeutic interventions are adapted from experience in multiple myeloma (MM) and directed at eradicating the pathologic plasma cells that produce circulating amyloidogenic free light chains. However, unlike in MM, in AL amyloidosis therapeutic choice is limited by the enhanced susceptibility to toxicity of organs affected by amyloid deposition.
In the above-stated article, the bold data in Table 1 have been revised.
Background: Clinical and histologic findings in skin and mucous membranes are essential in the diagnosis of systemic amyloidosis, and have been described in up to 25-40% of cases, mostly AL amyloidosis. The mucocutaneous clinical profile of patients with amyloidosis in Latin America has been scarcely reported.
Publication date: 20 August 2019Source: Cell Reports, Volume 28, Issue 8Author(s): Tiffany Wu, Borislav Dejanovic, Vineela D. Gandham, Alvin Gogineni, Rose Edmonds, Stephen Schauer, Karpagam Srinivasan, Melanie A. Huntley, Yuanyuan Wang, Tzu-Ming Wang, Maj Hedehus, Kai H. Barck, Maya Stark, Hai Ngu, Oded Foreman, William J. Meilandt, Justin Elstrott, Michael C. Chang, David V. Hansen, Richard A.D. CaranoSummaryComplement pathway overactivation can lead to neuronal damage in various neurological diseases. Although Alzheimer’s disease (AD) is characterized by β-amyloid plaques and tau tangles, previous work examin...
Conditions: Aortic Stenosis Symptomatic; Amyloidosis Cardiac Intervention: Diagnostic Test: Tc-99m-DPD scintigraphy Sponsor: University Hospital Inselspital, Berne Recruiting
CONCLUSIONS: TENS is beneficial in the field of dermatology, particularly involving the relief of chronic pruritus. PMID: 31418608 [PubMed - as supplied by publisher]
CONCLUSION: the CO2 laser is seems to be the most effective laser treatment of CMA. PMID: 31415215 [PubMed - as supplied by publisher]