Publications by authors named "Juan Gonzalez Moreno"
Background: Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain.
Methods: National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12 months to enrolment.
Introduction: Tafamidis is the only approved transthyretin stabiliser approved for the treatment of variant transthyretin amyloidosis (A-ATTRv) related polyneuropathy (PNP). The aim of this study is to analyse the effectiveness of tafamidis in a real-world setting in Spain.
Methods: This is a national multicenter study in which patients with V30M A-ATTR related PN treated with tafamidis for at least 1 year were included.
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 PDFEarly identification of ATTRv amyloidosis disease onset is still often delayed due to the lack of validated biomarkers of this disease. Light chain neurofilament (NfL) have shown promising results in early diagnosis in this disease, but data is still needed, including with alternative measuring methods. Our aim was to study the levels of NfL measured by ELISA.
View Article and Find Full Text PDFArticle Synopsis
- Transthyretin amyloidosis (ATTR amyloidosis) has both cardiac and neurological symptoms, with a growing recognition of a mixed phenotype among patients.
- A study from the Transthyretin Amyloidosis Outcomes Survey (THAOS) found that about one-third of symptomatic patients were classified as having a mixed phenotype, with most cases being hereditary ATTR.
- The research indicates that the mixed phenotype may be more common than previously understood, highlighting the importance of comprehensive evaluations for all ATTR amyloidosis patients throughout their treatment.
Background: Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of research on medical and psychosocial interventions, the impact of occupational therapy (OT) on patients with ATTRv is not well understood.
Objective: The aim of this study was to develop an OT programme to improve the daily functioning and quality of life of patients with ATTRv.
Article Synopsis
- Transthyretin amyloidosis (ATTR amyloidosis) is a serious, progressive disease caused by the buildup of transthyretin amyloid fibrils in the body's tissues and organs, and can be hereditary or wild-type.* -
- The Transthyretin Amyloidosis Outcomes Survey (THAOS) is a major global study launched in 2007 that has tracked over 6,000 patients, including symptomatic patients and asymptomatic carriers, providing important data on the disease's characteristics.* -
- The recent analysis from THAOS revealed that most symptomatic patients are male, with a shift toward more mixed phenotypes and less predominantly cardiac phenotypes, highlighting the disease's complexity and variability among
A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis.
Ther Adv Neurol Disord
August 2023
Orthotopic liver transplantation (OLT) was the first treatment able to modify the natural course of hereditary transthyretin (ATTRv) amyloidosis, which is a rare and fatal disorder caused by the accumulation of misfolded transthyretin (TTR) variants in different organs and tissues and which leads to a progressive and multisystem dysfunction. Because the liver is the main source of TTR, OLT dramatically reduces the production of the pathogenic TTR variant, which should prevent amyloid formation and halt disease progression. However, amyloidosis progression may occur after OLT due to wild-type TTR deposition, especially in the nerves and heart.
View Article and Find Full Text PDFBackground: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease'risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation.
Methods: Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily), Spain (Mallorca), France, Turkey, Brazil.
The purpose of this study was to explore the occupational performance and needs of patients with hereditary transthyretin amyloidosis (ATTRv). A semi-structured interview was conducted by an occupational therapist with 44 patients with Val50Met-ATTRv recruited through patient associations. The interview addressed three related dimensions.
View Article and Find Full Text PDFArticle Synopsis
- Transthyretin amyloidosis (ATTR amyloidosis) is a serious disease caused by the buildup of transthyretin amyloid fibrils in organs like the heart and nerves.
- The Transthyretin Amyloidosis Outcomes Survey (THAOS), established in 2007, is the largest ongoing study tracking both symptomatic patients and asymptomatic gene carriers to understand the disease better.
- The analysis included 5,609 participants and revealed that most symptomatic patients are male with a mean onset age of 56.3 years, while asymptomatic carriers are generally younger, highlighting the variant genotypes and clinical presentations across different regions.
Accessibility to Occupational Therapy Services for Hereditary Transthyretin Amyloidosis.
Int J Environ Res Public Health
April 2022
This study was designed to investigate the global utilization of occupational therapy (OT) services by patients with hereditary transthyretin amyloidosis (ATTRv) in Spain. The main objective was to find out whether these patients have access to OT services and the types of interventions being offered to them, together with their satisfaction and real benefits as users. We developed an online questionnaire which was distributed to patients with ATTRv in Spain through patient associations.
View Article and Find Full Text PDFObjectives: To define the clinical spectrum time-course and prognosis of non-Asian patients positive for anti-MDA5 antibodies.
Methods: We conducted a multicentre, international, retrospective cohort study.
Results: 149 anti-MDA5 positive patients (median onset age 53 years, median disease duration 18 months), mainly females (100, 67%), were included.
Article Synopsis
- Transthyretin amyloidosis (ATTR amyloidosis) is a complex disease linked to mutations in the transthyretin gene and is notably present in Spain, especially with the Val30Met variant; however, there's a lack of comprehensive patient data due to no centralized registry.
- The Transthyretin Amyloidosis Outcomes Survey (THAOS) collects ongoing data globally on ATTR amyloidosis patients, focusing here on the clinical profiles of those in Spain as of early 2020.
- Among the 379 patients analyzed, the majority had the Val30Met mutation, with most having neurologic symptoms, and common signs included autonomic and sensory neuropathy.
Pulmonary nodular lymphoid hyperplasia, also known as pseudolymphoma, is an uncommon reactive lymphoproliferative disorder of unknown etiology that can be found in Sjögren's syndrome patients. Here, we present a case of a previously healthy woman in which the incidental finding of a lung mass compatible with nodular lymphoid hyperplasia led to the subsequent diagnosis of Sjögren's syndrome. We also performed a literature review for the association between both entities and described the main clinical aspects of the reported cases.
View Article and Find Full Text PDFBackground: 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 PDF: Transthyretin amyloid polyneuropathy (ATTR-PN) is a fatal disease associated with substantial burden of illness. Three therapies are approved by the European Medicines Agency for the management of this rare disease. The aim of this study was to compare the total annual treatment specific cost per-patient associated with ATTR-PN in Spain.
View Article and Find Full Text PDFInvasive pneumococcal disease (IPD) presents high mortality in the population at risk. The aim of this work is to know the evolution, clinical and microbiological characteristics of IPD in the adult population of Majorca, since the introduction of a public funded program for pneumococcal conjugate vaccine (PCV-13) in the pediatric population in the Balearic Islands in 2016. For this purpose, a retrospective multicenter study was carried out in which all episodes of IPD in adult patients from the four hospitals of the public health system of Majorca were included, comparing the periods between 2012 and 2015 and between 2016 and 2019.
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.
View Article and Find Full Text PDFBackground: Polyserositis (PS) is the inflammation, with effusion, of different serous membranes. It has been associated with different aetiologies, but the aetiology of PS remains unknown in a high percentage of patients.
Aims: The general objective of this retrospective study was to analyse the aetiology of PS cases seen at Son Llàtzer Hospital in an 11-year period.