Publications by authors named "Jerez A"

In volleyball, the upper limb dimensions and grip strength greatly influence offensive and defensive movements during a match. However, the relationship between these parameters remains underexplored in elite female volleyball players. This study aimed to contrast the upper limb anthropometric characteristics and handgrip strength (HGS) of female elite volleyball players against a control group.

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We sought to examine the contribution of visual cues, such as lipreading, in the identification of familiar (words) and unfamiliar (phonemes) words in terms of percent accuracy. For that purpose, in this retrospective study, we presented lists of words and phonemes (adult female healthy voice) in auditory (A) and audiovisual (AV) modalities to 65 Spanish normal-hearing male and female listeners classified in four age groups. Our results showed a remarkable benefit of AV information in word and phoneme recognition.

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The International Consensus Classification of Myeloid Neoplasms and Acute Leukemias (ICC) and the 5th edition of the WHO classification (WHO 2022) have refined the diagnosis of myelodysplastic syndromes (MDS). Both classifications segregate MDS subtypes based on molecular or cytogenetic findings but rely on the subjective assessment of blast cell percentage and dysplasia in hematopoietic cell lineages. This study aimed to evaluate interobserver concordance among 13 cytomorphologists from eight hospitals in assessing blast percentages and dysplastic features in 44 MDS patients.

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Article Synopsis
  • Mutations in the TP53 gene, especially multihit alterations, are linked to worse clinical outcomes in patients with myelodysplastic syndrome (MDS).
  • This study analyzed TP53 abnormalities in 682 patients with MDS who had an isolated deletion of chromosome 5 (MDS-del(5q)), revealing that 24% had multihit mutations, indicating a greater risk for leukemic transformation.
  • The study found that the effect of monoallelic mutations varies with the variant allele frequency (VAF); lower VAF (<20%) behaved like wild-type TP53, while higher VAF (≥20%) showed outcomes similar to multihit mutations, highlighting the need for careful consideration of TP53 status in
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Patients aged 50 or above diagnosed with myeloid neoplasms (MNs) are typically not candidates for germline testing. However, approximately 8% carry pathogenic germline variants. Allogeneic haematopoietic stem cell transplantation (alloHSCT) remains an option for those aged over 50; neglecting germline testing could mask the risk for relative donor cell-derived MN.

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Objective: To analyze the demographic, clinical, and laboratory characteristics of catastrophic antiphospholipid syndrome (CAPS) patients with cardiac involvement, and to identify the factors associated with this cardiac involvement.

Material And Methods: Based on the analysis of the "CAPS Registry", the demographic, clinical, and serological characteristics of patients with cardiac involvement were analyzed. Cardiac involvement was defined as heart failure, valvular disease, acute myocardial infarction, pericardial effusion, pulmonary arterial hypertension, systolic dysfunction, intracardiac thrombosis, and microvascular disease.

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Article Synopsis
  • * The study validated the Artificial Intelligence Prognostic Scoring System for Myelodysplastic Syndromes (AIPSS-MDS), showing it was better than traditional scoring systems in predicting overall and leukemia-free survival in two different patient groups from Spain and Taiwan.
  • * The strong performance of AIPSS-MDS suggests it could be a key tool for tailoring treatment in CMML, and future research should look into adding genetic data to enhance risk assessment and patient care.
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Chronic myelomonocytic leukemia (CMML) is frequently associated with mutations in the rat sarcoma gene (RAS), leading to worse prognosis. RAS mutations result in active RAS-GTP proteins, favoring myeloid cell proliferation and survival and inducing the NLRP3 inflammasome together with the apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC), which promote caspase-1 activation and interleukin (IL)-1β release. Here, we report, in a cohort of CMML patients with mutations in KRAS, a constitutive activation of the NLRP3 inflammasome in monocytes, evidenced by ASC oligomerization and IL-1β release, as well as a specific inflammatory cytokine signature.

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Epidemiological studies suggest that approximately half of the patients with heart failure (HF) have reduced ejection fraction, while the other half have normal ejection fraction (EF). Currently, international guidelines consider QRS duration greater than 130 ms, in the presence of ventricular dysfunction (EF < 35%), as a criterion for selecting patients for cardiac resynchronization therapy (CRT). CRT helps restore intraventricular and auriculoventricular synchrony, improving left ventricular (LV) performance, reducing functional mitral regurgitation, and inducing reverse LV remodeling.

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Heart failure is a pathology that affects 1% of the population and is accompanied by iron deficiency as a comorbidity in 50% of cases. Anemia, meanwhile, is present between 22-37%. This is a consensus document that seeks to synthesize the information available on anemia and iron deficiency and its behavior in patients with HF, which is divided into pathophysiology, classification, clinical scenarios and algorithms (clinical pathways), treatment, and follow-up.

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Myelodysplastic neoplasms (MDS) are a heterogeneous group of hematological stem cell disorders characterized by dysplasia, cytopenias, and increased risk of acute leukemia. As prognosis differs widely between patients, and treatment options vary from observation to allogeneic stem cell transplantation, accurate and precise disease risk prognostication is critical for decision making. With this aim, we retrieved registry data from MDS patients from 90 Spanish institutions.

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  • A new physiologically based pharmacokinetic (PBPK) model for adeno-associated virus (AAV) therapy was created to improve drug development, based on studies in mice.
  • The study examined the distribution of AAV8 and AAV9 vectors and their encoded monoclonal antibody (mAb) over three weeks, revealing tissue-to-blood concentration ratios that varied significantly across different organs.
  • The developed PBPK model captures the pharmacokinetics of both the AAV vector and the mAb, highlighting liver, muscle, and heart as key contributors to mAb secretion, and it will aid in preclinical study design and the transition from animal studies to human trials.
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Stimuli-responsive nanomaterials have emerged as a promising strategy for inclusion in anticancer therapy. In particular, pH-responsive silica nanocarriers have been studied to provide controlled drug delivery in acidic tumor microenvironments. However, the intracellular microenvironment that the nanosystem must face has an impact on the anticancer effect; therefore, the design of the nanocarrier and the mechanisms that govern drug release play a crucial role in optimizing efficacy.

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Multiple myeloma (MM) arises following malignant proliferation of plasma cells in the bone marrow, that secrete high amounts of specific monoclonal immunoglobulins or light chains, resulting in the massive production of unfolded or misfolded proteins. Autophagy can have a dual role in tumorigenesis, by eliminating these abnormal proteins to avoid cancer development, but also ensuring MM cell survival and promoting resistance to treatments. To date no studies have determined the impact of genetic variation in autophagy-related genes on MM risk.

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Article Synopsis
  • * A study investigated whether 41 of these genetic variants could predict overall survival (OS) and time to first treatment (TTFT) in 1,039 CLL patients but found only weak associations that lacked significance after adjusting for multiple tests.
  • * The findings indicated that genetic risk variants do not significantly affect survival or disease progression in CLL patients, with polygenic risk scores providing only modest predictive ability for patient outcomes.
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Multiple myeloma (MM) is an incurable disease characterized by the presence of malignant plasma cells in the bone marrow that secrete specific monoclonal immunoglobulins into the blood. Obesity has been associated with the risk of developing solid and hematological cancers, but its role as a risk factor for MM needs to be further explored. Here, we evaluated whether 32 genome-wide association study (GWAS)-identified variants for obesity were associated with the risk of MM in 4189 German subjects from the German Multiple Myeloma Group (GMMG) cohort (2121 MM cases and 2068 controls) and 1293 Spanish subjects (206 MM cases and 1087 controls).

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There is a great deal of controversy in the hematologic community regarding the classification of secondary myelodysplastic neoplasms (MDSs). Current classifications are based on the presence of genetic predisposition and MDS post-cytotoxic therapy (MDS-pCT) etiologies. However, since these risk factors are not exclusive for secondary MDSs and there are multiple overlapping scenarios, a comprehensive and definitive classification is yet to come.

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Leukaemic stem cell (LSC) gene expression has recently been linked to prognosis in patients with acute myeloid leukaemia (17-gene LSC score, LSC-17) and myelodysplastic syndromes. Although chronic myelomonocytic leukaemia (CMML) is regarded as a stem cell disorder, the clinical and biological impact of LSCs on CMML patients remains elusive. Making use of multiple independent validation cohorts, we here describe a concise three-gene expression signature (LSC-3, derived from the LSC-17 score) as an independent and robust prognostic factor for leukaemia-free and overall survival in CMML.

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Studies prior to next-generation sequencing (NGS) showed that the frequent indolent course of chronic lymphocytic leukaemia (CLL) is related to most cells remaining quiescent in the G -G cell cycle phase, due to the expression of dysregulated cyclin genes. Of note, the activating nature of the NOTCH1 mutation in T lymphoblastic leukaemia also drives the dysregulation of cell cycle genes. Our goal was to comprehensively revisit the cell cycle in NOTCH1-mutated CLL (NOTCH1 ) to test for potential therapeutic targets.

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Background: Our main objective was to present a multidisciplinary review on the epidemiology of sudden cardiac death (SCD) and the tools that could be used to identify malignant ventricular arrhythmias (VAs) and to perform risk stratification. In addition, indications and contraindications for the use of implantable cardioverter defibrillator (ICD) in general and in special populations including the elderly and patients with chronic kidney disease (CKD) are also given.

Methods: An expert group from the Inter American Society of Cardiology (IASC), through their HF Council (CIFACAH) and Electrocardiology Council (ElectroSIAC), together with the Latin American Heart Rhythm Society (LAHRS), reviewed and discussed the literature regarding the appropriate use of an ICD in people with heart failure (HF) with reduced ejection fraction (HFpEF).

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Backgound: In the workup of follicular lymphoma (FL), bone marrow biopsy (BMB) assessment is a key component of FLIPI and FLIPI2, the most widely used outcome scores. During the previous decade, several studies explored the role of FDG-PET/CT for detecting nodal and extranodal disease, with only one large study comparing both techniques.

Methods: The aim of our study was to evaluate the diagnostic accuracy and the prognostic impact of both procedures in a retrospective cohort of 299 FL patients with both tests performed at diagnosis.

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Article Synopsis
  • There is a need to enhance thermal comfort and air quality in hospitals to improve the well-being and performance of both staff and patients.
  • The article introduces a system for monitoring these conditions using an Internet of Things (IoT) platform with low-cost sensors that track important variables like humidity, temperature, and CO2 levels.
  • It presents a multidimensional data model that improves query flexibility and reduces the volume of data, leading to faster response times and better decision-making in hospital operations.
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