Publications by authors named "Andres Mariano"

Objective: To develop and validate a patient-reported definition of acute calcium pyrophosphate (CPP) crystal arthritis in people with crystal-proven CPP deposition (CPPD) disease.

Methods: Consecutive patients with crystal-proven CPPD disease from seven centres across four countries were enrolled in a cross-sectional study. In each centre, patient-reported outcomes on the features of acute CPP crystal arthritis were collected.

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  • The study investigates whether ultrasound detection of monosodium urate crystals can predict the development of symptomatic gout in individuals with elevated urate levels over a five-year period.
  • It involves more than 250 participants with asymptomatic hyperuricemia, assessing various health metrics and using ultrasound imaging to monitor the presence of MSU crystal deposition.
  • The research is ethically approved and aims to share findings through peer-reviewed publications and conferences.
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  • - Gout is a chronic condition caused by the immune system's reaction to monosodium urate crystals due to high uric acid levels, and recent research sheds light on its inflammatory mechanisms.
  • - A large genome-wide association study (GWAS) involving 2.6 million people identified 377 genetic locations linked to gout, with a focus on 149 new loci related to urate and gout inflammation.
  • - The study also pinpointed candidate genes influencing the inflammatory response in gout, including those affecting NLRP3 inflammasome activity, and suggests a potential causal role of specific genetic factors in developing the disease.
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Objective: To describe the inflammatory profile of asymptomatic hyperuricemia (AH) with ultrasound evidence of monosodium urate (MSU) crystals (AH-MSUpos), vs AH without deposits (AH-MSUneg), intercritical gout, and normouricemia.

Methods: Based on serum urate levels, musculoskeletal ultrasound, and history of flares, we divided 122 participants into four groups: normouricemia, AH-MSUneg, AH-MSUpos, and intercritical gout. We tested four ultrasound definitions for MSU deposition in AH: grade 2-3 (G2-3) double contour and/or tophi, G1-3 double contour and/or tophi, G1-3 Stewart scheme (double contour sign in knee cartilage and/or first metatarsophalangeal joint and/or tophi in first metatarsophalangeal joint), and G2-3 Stewart scheme.

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Objectives: To measure regulatory T cell (Treg) levels in the peripheral blood of children with juvenile idiopathic arthritis (JIA) and analyse the association of this measure with disease activity, quality of life, adjustment of treatment, and hospitalisation.

Methods: We conducted a two-phase study (cross-sectional and prospective), including consecutive children with a JIA diagnosis according to ILAR criteria. Our independent variables were Tregs, Th1, Th2, and cytokines in peripheral blood, and our dependent variables in the cross-sectional phase were arthritis category, JIA activity, and patient-reported outcomes.

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  • The study aimed to analyze the disease, demographic, and imaging characteristics linked to different types of calcium pyrophosphate deposition (CPPD) disease, focusing on recurrent acute CPP crystal arthritis, chronic CPP crystal inflammatory arthritis, and crowned dens syndrome (CDS).
  • Researchers utilized data from an international cohort of 618 individuals to investigate the phenotypic traits of each type of CPPD and performed multivariable logistic regression to assess associations between risk factors and inflammatory phenotypes.
  • Key findings indicated that longer disease duration correlated with recurrent acute arthritis, while chronic arthritis was linked to specific joint issues and less associated with metabolic risks, and CDS was more common in males with greater joint involvement. *
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Crystallization of monosodium urate monohydrate (MSU) leads to painful gouty arthritis. Despite extensive research it is still unknown how this pathological biomineralization occurs, which hampers its prevention. Here we show how inflammatory MSU crystals form after a non-inflammatory amorphous precursor (AMSU) that nucleates heterogeneously on collagen fibrils from damaged articular cartilage of gout patients.

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  • The study aimed to identify a sonographic protocol for assessing urate crystal deposits in patients with asymptomatic hyperuricemia (AH) and determine how different definitions affect deposition rates and related features.
  • A total of 77 participants were evaluated using ultrasound across 10 locations to identify different types of urate deposits and their associated inflammation and erosions.
  • Results showed a wide range in deposition rates depending on the protocols used, emphasizing the need for a standardized definition to better understand and manage AH.
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Objectives: To assess whether the extent of monosodium urate (MSU) crystal deposition estimated by ultrasound could predict renal and cardiometabolic events during urate-lowering therapy (ULT).

Methods: A prospective study on gout patients from two referral centers initiating ULT who underwent baseline ultrasound and were followed for 1 year. Ultrasound scans assessed six joints for double-contour (DC) signs and tophi.

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  • VEXAS syndrome is an adult-onset autoinflammatory disease caused by postzygotic genetic variants, affecting males with symptoms like skin lesions, fever, and arthritis at a mean age of 67.5 years.
  • In a study of 42 patients, 30 were identified with pathogenic genetic variants and showed varying degrees of glucocorticoid dependence for symptom management.
  • The research revealed that these variants were present in both blood and non-blood tissues, challenging the previous understanding that these genetic changes were limited to myeloid (blood) cells.
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  • Calcium pyrophosphate deposition (CPPD) disease is common but previously lacked validated classification criteria, which have now been developed by the American College of Rheumatology (ACR) and EULAR.
  • A multinational group established these criteria by generating lists of candidate items, refining definitions, and validating the framework through patient profiles and statistical analysis.
  • The new criteria allow for CPPD classification based on specific symptoms, testing results, and a scoring system, demonstrating high sensitivity and specificity in identifying the disease.
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  • Calcium pyrophosphate deposition (CPPD) disease lacks established classification criteria, prompting the American College of Rheumatology (ACR) and EULAR to create the first validated criteria for symptomatic cases.
  • A multinational team developed these criteria by analyzing patient profiles, defining candidate items, and employing decision-making methods to establish a scoring system for classification.
  • The new criteria showed high sensitivity (92.2% in one cohort; 99.2% in another) and specificity (87.9% and 92.5%, respectively), making them effective tools for diagnosing CPPD disease and advancing research.
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Objective: There is room for improvement in the knowledge of female gout, often noted at risk of gender blindness. This study aims to compare the prevalence of comorbidities in women versus men hospitalised with gout in Spain.

Methods: This is an observational, multicentre, cross-sectional study in public and private Spanish hospitals analysing the minimum basic data set from 192 037 hospitalisations in people with gout (International Classification of Diseases, Ninth Revision (ICD-9) coding) from 2005 to 2015.

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Objectives: Very little is known on the efficacy and safety of drugs for the management of chronic calcium pyrophosphate (CPP) crystal inflammatory arthritis. The objectives of this work were to describe the drugs used in the management of chronic CPP crystal inflammatory arthritis in expert European centres, and to examine treatment retention.

Methods: This was a retrospective cohort study.

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The levels of several glial and neuronal plasma biomarkers have been found to increase during the acute phase in COVID-19 patients with neurological symptoms. However, replications in patients with minor or non-neurological symptoms are needed to understand their potential as indicators of CNS injury or vulnerability. Plasma levels of glial fibrillary acidic protein (GFAP), neurofilament light chain protein (NfL), and total Tau (T-tau) were determined by Single molecule array (Simoa) immunoassays in 45 samples from COVID-19 patients in the acute phase of infection [moderate (n = 35), or severe (n = 10)] with minor or non-neurological symptoms; in 26 samples from fully recovered patients after ~2 months of clinical follow-up [moderate (n = 23), or severe (n = 3)]; and in 14 non-infected controls.

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Objective: Despite the fact that polarized microscopy remains the gold standard for diagnosing crystal arthritis, some uncertainties hamper full implementation in clinical practice. We undertook this study to analyze the agreement among multiple observers in crystal identification using compensated polarized microscopy, as well as to assess potential outcome modifiers.

Methods: This was a cross-sectional, observational study with consecutive synovial fluid sampling.

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Objective: To determine whether a gout polygenic risk score (PRS) is associated with age at gout onset and tophaceous disease in European, East Polynesian, and West Polynesian men and women with gout.

Methods: A 19-variant gout PRS was produced in 7 European gout cohorts (N = 4,016), 2 East Polynesian gout cohorts (N = 682), and 1 West Polynesian gout cohort (N = 490). Sex-stratified regression models were used to estimate the relationship between the PRS and age at gout onset and tophaceous disease.

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Drugs such as paclitaxel (Taxol) that bind microtubules are widely used for the treatment of cancer. Measurements of the affinity and selectivity of these compounds for their targets are largely based on studies of purified proteins, and only a few quantitative methods for the analysis of interactions of small molecules with microtubules in living cells have been reported. We describe here a novel method for rapidly quantifying the affinities of compounds that bind polymerized tubulin in living HeLa cells.

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Gout is characterized by monosodium urate (MSU) crystal deposits in and within joints. These deposits result from persistent hyperuricaemia and most typically lead to recurrent acute inflammatory episodes (gout flares). Even though some aspects of gout are well characterized, uncertainties remain; this upcoming decade should provide further insights into many of these uncertainties.

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Objective: Gout is prevalent in people with cardiovascular disease, although up to a third of the cases remain unregistered. We aimed to assess whether active gout screening in inpatients with cardiovascular events helps identify patients at higher risk of mortality after discharge.

Methods: This study included patients admitted for cardiovascular events.

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Objective: To verify the monosodium urate (MSU) crystal deposition in artery walls following a structure assessment and to assess NLRP3 inflammasome expression in human atheroma plaques by levels of uricemia.

Methods: Patients with peripheral arterial disease who were candidates for amputation were recruited and classified as normouricemic or hyperuricemic. During surgery, an artery segment from the amputated limb was sampled, divided and fixed separately by cryo-embedding, 100% ethanol or Glyo-fixx.

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