Publications by authors named "Arranz M"

Osteosarcoma is a rare disease, but it is the most frequent malignant bone tumor. Primary treatment consists of preoperative MAP (methotrexate (MTX), doxorubicin and cisplatin) chemotherapy followed by surgery and adjuvant chemotherapy. Pathological response to preoperative chemotherapy is one of the most important prognostic factors, but molecular biomarkers are lacking.

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Inflammatory Bowel Disease (IBD) is a chronic digestive condition that requires continuous monitoring by healthcare professionals to determine appropriate therapy and manage short- and long-term complications. Telemedicine has become an essential approach for managing chronic conditions such as IBD, improving care accessibility and continuity, decreasing hospitalization rates, and optimizing patient follow-up. It enables rapid treatment adjustments and encourages patient self-management.

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Visits to hospital emergency departments by patients with multimorbidity, complex chronic conditions, and frailty are becoming an increasing challenge. A territorial strategy has been developed, based on automated preselection lists, a nurse case manager with specialized experience, and a multi-level territorial referral consensus. The feasibility of this approach has been demonstrated, with 368 alerts detected, 85% of which were well-selected.

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  • The study addresses the challenge of hand reanimation for patients with total paralysis by comparing two surgical techniques: functional free gracilis muscle transfer and biceps tendon transfer to finger flexors.
  • Six patients were evaluated over an average follow-up of 7.5 years, with varying success rates based on the techniques used, as measured by the British Medical Research Council grading system.
  • The study concludes that while tendon transfer may be less complex and still effective, functional free muscle transfer is preferable when possible due to its potential for better long-term muscular strength in finger flexion.
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  • The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
  • Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
  • The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
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  • Standard first-line chemotherapy for small cell lung cancer (SCLC) combines platinum and etoposide, but while effective, it has limitations like non-durable responses and toxicity.
  • Genetic variants in DNA-repair and etoposide metabolism genes were studied in 145 SCLC patients to predict treatment outcomes and safety, with findings linking certain genetic variants to better progression-free survival (PFS).
  • The study shows potential markers, like the rs11615 variant, could help personalize treatment, especially in limited-stage SCLC, but more research is needed to confirm these results.
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COVID-19 continues to pose a significant threat: mortality stands at nearly twice that of influenza, and the incidence rate is growing as the population's vaccination rate decreases, particularly in Spain and other areas of Europe. Given this situation, it is vitally important know whether medical protocols are consistent and appropriately implemented by health care staff in the interest of preventing possible inefficiency or inequity. Physicians from hospital emergency departments met to study their hospitals' usual clinical practices for managing SARS-CoV-2 infection and to determine their expert opinions on the use of antiviral agents.

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  • Decades of pharmacogenetic research have identified genetic markers that affect how individuals respond to antipsychotic medications, particularly related to dopamine and serotonin receptors and metabolic enzymes.
  • Although these genetic markers show potential for improving treatment outcomes and reducing side effects by personalizing medication dosing, their practical use in clinical settings is limited.
  • Challenges such as a lack of cost-effectiveness studies, absence of clinical guidelines, high costs of genetic testing, and delays in results hinder the broader implementation of pharmacogenetic strategies in psychiatry.
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Background: Pneumococcal community-acquired pneumonia (P-CAP) is a major cause of morbidity and hospitalization. Several host genetics factors influencing risk of pneumococcal disease have been identified, with less information about its association with P-CAP. The aim of the study was to assess the influence of single nucleotide polymorphisms (SNP) within key genes involved in the innate immune response on the susceptibility to P-CAP and to study whether these polymorphic variants were associated with the severity and outcome of the episodes in a cohort of adult Caucasian patients.

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Approximately 70% of individuals diagnosed with autism spectrum disorder (ASD) receive at least one psychotropic medication to treat comorbidities. However, the response to treatment with these drugs is far from satisfactory, with 30-50% of treated patients not responding adequately or developing severe and long-lasting side effects. There is strong evidence of the clinical utility of pharmacogenetics for the personalization of antipsychotic and antidepressant treatments in adult populations.

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  • The study investigates how endophenotypes, which are traits linked to psychosis, connect to genetic factors by examining specific gene sets.
  • It analyzed data from 4,506 participants to compute polygenic risk scores related to schizophrenia and bipolar disorder, ultimately measuring their association with seven different endophenotypes.
  • Results indicated a significant link between reduced P300 amplitude and higher schizophrenia risk linked to forebrain-related genes, suggesting genetic variants influence early brain development and may heighten psychosis risk in the future.
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Purpose: Autistic spectrum disorders (ASD) children and adolescents usually present comorbidities, with 40-70% of them affected by attention deficit hyperactivity disorders (ADHD). The first option of pharmacological treatment for these patients is methylphenidate (MPH). ASD children present more side effects and poorer responses to MPH than ADHD children.

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Introduction And Objectives: The outbreak of COVID-19 has overwhelmed healthcare systems all over the world. The aim of this article is to describe the process of transforming the Vall d'Hebron University Hospital, the second largest hospital in Spain, into a COVID-19 centre coordinating response to the pandemic in its reference area.

Materials And Methods: The study draws on the experience of the authors in transforming the hospital into a comprehensive resource in response to the COVID-19 pandemic.

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  • A genome-wide study involving nearly 12,000 COVID-19 positive cases in Spain identified significant genetic variants linked to hospitalization, with specific loci associated with males (3p21.31, 21q22.11) and females (9q21.32 near TLE1).
  • A second phase combined data with an additional cohort, revealing two new risk loci (9p13.3, 19q13.12) related to candidate genes AQP3 and ARHGAP33, and confirmed earlier findings in males for some loci.
  • The analysis highlighted genetic differences in COVID-19 severity between sexes and ages, with more pronounced heritability in males, particularly those over
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  • The genetic origins of autism spectrum disorder (ASD) are complex, involving both rare and common genetic factors, with a noticeable difference in risk based on sex, showing that females generally have a higher genetic load.
  • Both de novo mutations and inherited variants are linked to varying levels of symptom severity in children and their parents, and parental age plays a role due to genetic changes over time.
  • Rare genetic variants mainly affect genes related to neuron function, contributing to the diverse spectrum of ASD symptoms and suggesting that genetic influences impact different neurodevelopmental processes.
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Background: Autistic spectrum disorders (ASD) are severe neurodevelopmental alterations characterised by deficits in social communication and repetitive and restricted behaviours. About a third of patients receive pharmacological treatment for comorbid symptoms. However, 30-50% do not respond adequately and/or present severe and long-lasting side effects.

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Objectives: Evaluate the image quality of a mammography screening device using the patient-assisted compression (PAC) compared with the standard compression (SC) mode.

Methods: This prospective within-woman, randomized controlled trial was conducted between September 2017 and December 2019. Participants were asymptomatic women aged 50 to 69 years attending their second or subsequent screening mammography round.

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Objectives: We compared the compression force, breast thickness, and glandular dose, as well as the severity of discomfort and women's experience between the patient-assisted compression (PAC) and standard compression (SC) modes.

Materials And Methods: We conducted a prospective randomized controlled study at Hospital del Mar in Barcelona, Spain. We included 448 asymptomatic women aged 50 to 69 years old, attending their screening round from December 2017 to December 2019.

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Neoadjuvant chemotherapy based on anthracyclines and ifosfamide for high-risk soft tissue sarcomas (STS) of the extremities and trunk is a controversial treatment option. There are substantial interindividual differences in clinical outcomes in patients treated with neoadjuvant chemotherapy. The aim of this study was to evaluate, as biomarkers, polymorphisms in genes encoding drug-metabolizing enzymes, drug transporters, or drug targets and their association with toxicity and survival in STS patients treated with neoadjuvant chemotherapy.

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  • Antipsychotic medications can lead to weight gain, which may reduce life expectancy in individuals with psychotic disorders, potentially influenced by genetic variations in the CYP2D6 enzyme responsible for drug metabolism.
  • A systematic review analyzed various studies on the weight and BMI of patients on antipsychotics based on their CYP2D6 metabolic groups, finding that cohort studies indicated higher weight in poor metabolizers, but cross-sectional studies did not support this.
  • The meta-analysis of 17 studies, encompassing data from over 2,000 patients, did not reveal significant differences in weight or BMI among different metabolic groups, suggesting that genetic factors may not strongly influence weight gain in antipsychotic treatment.
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Atrial fibrillation (AF) is the most prevalent heart rhythm disorder in the general population. Stroke prevention is one of the leading management objectives in the treatment of AF patients. The variables associated with the non-initiation of thromboprophylaxis in patients with thrombotic risk consulting for an episode of AF in Emergency Departments (ED) were investigated.

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Objective: To analyze the characteristics and variables associated with prolonged noninvasive ventilation performed completely in Emergency Departments (NIV-ED) and its influence upon effectiveness.

Design: A prospective, multicenter, observational multipurpose cohort study was carried out.

Setting: VNICAT Registry.

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