Publications by authors named "Jose Casado"

Article Synopsis
  • Fanconi anemia (FA) is a rare genetic disorder marked by varying symptoms and significant chromosome fragility, leading to severe health issues like cancer and bone marrow failure.
  • The Spanish Registry of Patients with FA gathered data from 227 patients over 30 years, revealing an 86% cumulative cancer incidence by age 50, with outcomes differing based on chromosome fragility and specific gene mutations.
  • Findings suggest that patients with mutations allowing some protein function (genetic hypomorphism) tend to have better health outcomes, indicating potential for new therapies that could enhance mutant FA protein function to improve patient prognosis.
View Article and Find Full Text PDF
Article Synopsis
  • - Huntington's disease (HD) impacts both upper and lower limb function, and this study used a wrist-worn sensor to monitor upper limb movements in daily activities among individuals with HD, prodromal HD (pHD), and healthy controls (CTR) over a week.
  • - Participants were highly compliant in wearing the sensor, and the study analyzed goal-directed movements (GDM) using deep learning, finding significant differences in GDM characteristics among the three groups, particularly noting that HD individuals performed fewer long-duration movements compared to CTR.
  • - The research successfully used statistical and machine learning models to distinguish between the groups and predict clinical scores, achieving a balanced accuracy of 67%, with certain movement metrics correlating strongly with clinical evaluations
View Article and Find Full Text PDF

Background: Wearable sensors can differentiate Progressive Supranuclear Palsy (PSP) from Parkinson's Disease (PD) in laboratory settings but have not been tested in remote settings.

Objectives: To compare gait and balance in PSP and PD remotely using wearable-based assessments.

Methods: Participants with probable PSP or probable/clinically established PD with reliable caregivers, still able to ambulate 10 feet unassisted, were recruited, enrolled, and consented remotely and instructed by video conference to operate a study-specific tablet solution (BioDigit Home ™) and to wear three inertial sensors (LEGSys™, BioSensics LLC, Newton, MA USA) while performing the Timed Up and Go, 5 × sit-to-stand, and 2-min walk tests.

View Article and Find Full Text PDF

Introduction: Distinguishing Parkinson's disease (PD) from Progressive supranuclear palsy (PSP) at early disease stages is important for clinical trial enrollment and clinical care/prognostication.

Methods: We recruited 21 participants with PSP(n = 11) or PD(n = 10) with reliable caregivers. Standardized passage reading, counting, and sustained phonation were recorded on the BioDigit Home tablet (BioSensics LLC, Newton, MA USA), and speech features from the assessments were analyzed using the BioDigit Speech platform (BioSensics LLC, Newton, MA USA).

View Article and Find Full Text PDF

People with HIV have a higher risk of fracture than the general population. Because of the low performance of the existing prediction tools, there is controversy surrounding fracture risk estimation in this population. The aim of the study was to develop a model for predicting the long-term risk of fragility fractures in people with HIV.

View Article and Find Full Text PDF

Objectives: The dynamics of the memory B cell (MBC) repertoire after SARS-CoV-2 vaccination is crucial for assessing long-term immunity. We compare spike-specific MBC responses between SARS-CoV-2 unexposed and recovered individuals, and their impact on breakthrough infections during follow-up.

Methods: Spike-specific MBC and T cells were quantified at inclusion and after two doses of mRNA vaccine in a longitudinal cohort of 85 naïve and 64 recovered participants (47 with positive serology and 17 with negative serology after infection).

View Article and Find Full Text PDF

Few data are available about the immune response to mRNA SARS-CoV-2 vaccines in patients with breast cancer receiving cyclin-dependent kinase 4/6 inhibitors (CDK4/6i). We conducted a prospective, single-center study of patients with breast cancer treated with CDK4/6i who received mRNA-1273 vaccination, as well as a comparative group of healthcare workers. The primary endpoint was to compare the rate and magnitude of humoral and T-cell response after full vaccination.

View Article and Find Full Text PDF

Background: Inflammasome activation is increased in people with human immunodeficiency virus (PWH), but its relationship with coronary plaque is poorly understood in this setting.

Methods: In a large human immunodeficiency virus cardiovascular prevention cohort, relationships between caspase-1, interleukin (IL)-1β, and IL-18 and coronary plaque indices were assessed by multivariate logistic regression.

Results: Higher IL-18 and IL-1β were associated with Leaman score, an integrative measure of plaque burden and composition.

View Article and Find Full Text PDF

Objective: T-cell responses against SARS-CoV-2 are observed in unexposed individuals, attributed to previous common human coronavirus (HCoV) infections. We evaluated the evolution of this T-cell cross-reactive response and the specific memory B-cells (MBCs) after the SARS-CoV-2 mRNA-based vaccination and its impact on incident SARS-CoV-2 infections.

Methods: This was a longitudinal study of 149 healthcare workers (HCWs) that included 85 unexposed individuals that were subdivided according to previous T-cell cross-reactivity, who were compared to 64 convalescent HCWs.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates how plasma proteins change over time in people with HIV (PWH) after SARS-CoV-2 infection to understand COVID-19 severity better.
  • It compared plasma protein profiles of 94 COVID-19-positive individuals with 113 matched controls, analyzing data collected before the pandemic to assess changes related to disease severity.
  • Key findings suggest specific proteins, particularly granzymes, are linked to increased risk of moderate to severe COVID-19 in PWH, indicating their role in immune function and potential for COVID-19 complications.
View Article and Find Full Text PDF

Objectives: We evaluated T-cell immune responses against SARS-CoV-2 variants of concern (VOC) after vaccination in people with HIV (PWH), and their impact on the incidence of disease.

Methods: A prospective cohort study. Peripheral blood mononuclear cells (PBMCs) were collected a median of 53 days after second dose of mRNA vaccine.

View Article and Find Full Text PDF

Current guidelines recommend screening people with HIV (PWH) for bone disease using predictive tools developed for the general population, although data on PWH are scarce. In this study, we assessed the performance of FRAX and QFracture scoring systems to predict the occurrence of fragility fractures in a prospective cohort of 17,671 adults with human immunodeficiency virus (HIV) included in the HIV/AIDS research network (CoRIS) in Spain. The survival estimates of fragility fractures during follow-up were calculated and FRAX and QFracture scores were computed at cohort inclusion.

View Article and Find Full Text PDF

This paper is aimed at identifying by means of micro-CT the microstructural differences between normal and degenerative mitral marginal chordae tendineae. The control group is composed of 21 normal chords excised from 14 normal mitral valves from heart transplant recipients. The experimental group comprises 22 degenerative fibroelastic chords obtained at surgery from 11 pathological valves after mitral repair or replacement.

View Article and Find Full Text PDF

Despite in vitro activity of interferon-β (IFN-β) against SARS-CoV-2 infection, its clinical efficacy remains controversial. We evaluated the impact of IFN-β treatment in a cohort of 3590 patients hospitalized with COVID-19 during March−April 2020. The primary endpoint was a composed variable of admission to intensive care unit (ICU)/death.

View Article and Find Full Text PDF

The superstructure of modern railway lines uses tons of technical polymeric material spread along the track with mechanical, insulating and damping functions. Many of these parts are rejected because they do not pass the quality controls, generating a large accumulation of plastic waste of high economic value. Therefore, this study is aimed at determining the optimum degree of recyclability by mechanical crushing of geometrically defective (and so rejected) railway fastenings flanged plates injected with short fiberglass-reinforced polyamide.

View Article and Find Full Text PDF
Article Synopsis
  • The hospital reported the first 25 cases of HIV-positive individuals diagnosed with monkeypox (MPXV) during an outbreak in Spain.
  • Proctitis, or inflammation of the rectum, was observed in 52% of these patients, indicating a common symptom.
  • MPXV DNA was found in 90% of rectal swabs, suggesting that the virus may be transmitted sexually among these individuals.
View Article and Find Full Text PDF

People living with HIV-1 and HTLV-2 concomitantly show slower CD4 T cell depletion and AIDS progression, more frequency of the natural control of HIV-1, and lower mortality rates. A similar beneficial effect of this infection has been reported on HCV coinfection reducing transaminases, increasing the spontaneous clearance of HCV infection and delaying the development of hepatic fibrosis. Given the critical role of CD8 T cells in controlling HIV-1 infection, we analysed the role of CD8 T cell-mediated cytotoxic activity in coinfected individuals living with HIV-1.

View Article and Find Full Text PDF

Purpose: To analyze the impact of SARS-COV-2-specific memory B cells (MBC) on the immune response after two doses of mRNA-based Comirnaty COVID-19 vaccine in seronegative health care workers. This study is seeking a rationale for boosting vaccines.

Methods: Longitudinal study including 31 seronegative health care workers with undetectable specific MBCs (IgGMBC group), 24 seronegative with detectable specific MBCs (IgGMBC group), and 24 seropositive with detectable specific MBCs (IgGMBC group).

View Article and Find Full Text PDF

Introduction: In people living with HIV (PLWH), bone mineral density (BMD) discordance between the lumbar spine (LS) and femoral neck (FN) could be frequent given the high frequency of secondary osteoporosis, including HIV-related factors for bone disease.

Materials And Methods: Retrospective cohort of PLWH with a dual X-ray absorptiometry scan. Hip-spine BMD discordance was defined as different T-score or Z-scores categories at LS and FN.

View Article and Find Full Text PDF

The risk of reinfection could be related to the initial SARS-CoV-2 clinical presentation, but there are no data about the risk change after SARS-CoV-2 vaccination. We evaluated the rate of reinfection in an inception cohort study of 4943 health care workers (HCWs) according to symptoms and serologic results during March−May 2020. Incidence rates (IR) and IR ratios (IRR) before and after SARS-CoV-2 vaccination were determined by adjusting Poisson models.

View Article and Find Full Text PDF
Article Synopsis
  • Fanconi anemia (FA) is the most common inherited syndrome leading to bone marrow failure, but its underlying biological mechanisms are not completely understood.
  • Researchers proposed that defective DNA repair in FA cells causes them to express stress molecules called NKG2D ligands (NKG2D-Ls), which deplete hematopoietic stem and progenitor cells (HSPCs) by interacting with immune cells.
  • Their findings showed that blocking these interactions improved the survival and function of HSPCs in patients and animal models, revealing a significant link between immune system activity and the bone marrow failure seen in FA.
View Article and Find Full Text PDF

Little is known about the factors associated with lack of T-cell response to mRNA vaccines against SARS-CoV-2. In a prospective cohort of 61 health care workers (HCWs), 21% and 16% after the first dose of mRNA BNT162b vaccine, and 12% and 7% after the second dose, showed lack of CD4 and CD8 T-cell response, respectively. Pre-existing T-cell immunity, due to past infection (46%) or cross-reactive cellular response (26%), was significantly associated with T-cell response in frequency (CD4+ T-cell, 100% vs 82% after two doses; p = 0.

View Article and Find Full Text PDF
Article Synopsis
  • SARS-CoV-2 infection can lead to decreased CD4+ T-cells in people living with HIV (PLWH), increasing the risk for bacterial infections and impacting their immune system.
  • A study of 176 hospitalized PLWH with COVID-19 from March to December 2020 found that while some received antibiotic therapy, bacterial co-infection was rare, with only 12% experiencing superinfection.
  • Post-discharge, most patients did not show significant changes in their CD4+ counts or CD4+/CD8+ ratios, indicating potential immune recovery after the infection.
View Article and Find Full Text PDF

Introduction: Patients with cancer (PC) are at high risk of acquiring COVID-19 and can develop more serious complications. Deeper understanding of vaccines immunogenicity in this population is crucial for adequately planning vaccines programs. The ONCOVac study aimed to comprehensively assess the immunogenicity of mRNA-1273 vaccine in terms of humoral and cellular response.

View Article and Find Full Text PDF

SARS-CoV-2 spike mRNA vaccines have shown remarkable clinical efficacy in the general population, although the nature of T-cell priming is not fully understood. We performed longitudinal spike-, membrane-, and nucleocapsid-specific T-cell analysis in individuals with past infection and infection-naïve individuals with cross-reactivity. We found an additional enhancement of T-cell response to the structural membrane (M) and nucleocapsid (N) SARS-CoV-2 proteins after mRNA vaccine in these individuals.

View Article and Find Full Text PDF