Publications by authors named "M M Uson"
Background: Variant transthyretin amyloidosis (ATTRv) can cause sensorimotor and autonomic neuropathy. Objective quantification of sudomotor function may be essential for early diagnosis and early initiation of treatment. The aim of this study is to evaluate the diagnostic value of the Sudoscan® in ATTRv.
View Article and Find Full Text PDFPompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD).
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- This article reports on the annual activities of the Interventional Cardiology Association of the Spanish Society of Cardiology for 2022.
- A total of 111 centers participated, revealing a 4.8% increase in diagnostic studies and a significant 22% rise in PCIs on the left main coronary artery, while the overall PCI numbers remained stable.
- Key trends included a preference for the radial approach in 94.9% of cases, increased use of drug-eluting balloons and intracoronary imaging, and a continuous rise in noncoronary procedures, especially those related to heart valve and structural heart issues.
Background: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition.
View Article and Find Full Text PDFBackground: Hereditary transthyretin amyloidosis (ATTRV30M) is a rare disease caused by amyloid deposition and characterized by a heterogeneous presentation. Anticipation (AC) is described as the decrease in age at onset (AO) within each generation. Our aim was to study AC in a large number of ATTRV30M kindred from Majorca (Spain), and gain further insight into parent-of-origin effects.
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