3,242 results match your criteria: "Hospital Germans Trias I Pujol[Affiliation]"

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.
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Prevalence of Progression Independent of Relapse Activity and Relapse-Associated Worsening in Patients With AQP4-IgG-Positive NMOSD.

Neurology

December 2024

From the Department of Neuroscience (P.S., A.V.D.W., P.G.S., Y.C.F., W.Z.Y., C.Z., V.G.J., H.B., M.M.), Central Clinical School, Monash University, Melbourne, Victoria; Department of Neurology (P.S., A.V.D.W., P.G.S., Y.C.F., W.Z.Y., V.G.J., H.B., M.M.), Alfred Health, Melbourne, Victoria, Australia; Department of Neurology (P.S., S.H.), Walton Centre NHS Foundation Trust, Liverpool, United Kingdom; Neuroimmunology Centre (S.S., I.R., T.K.), Department of Neurology, The Royal Melbourne Hospital, Parkville; CORe (S.S., I.R., T.K.), Department of Medicine, University of Melbourne, Victoria; Royal Hobart Hospital (Y.C.F.), Hobart, Tasmania, Australia; Nehme and Therese Tohme Multiple Sclerosis Center (S.J.K.), American University of Beirut Medical Center, Beirut, Lebanon; Department of Neurology (T.C.), Faculty of Medicine, University of Debrecen, Hungary; Department of Neurology (B.W.), Antwerp University Hospital, Edegem; Translational Neurosciences Research Group (B.W.), Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, Belgium; Faculty of Medicine (M.E.), Isfahan University of Medical Sciences; Neurology (M.E.), Dr. Etemadifar MS Institute, Isfahan, Iran; Izmir University of Economics (S.O.), Medical Point Hospital; Multiple Sclerosis Research Association (S.O.), Izmir, Turkey; Department of Neurology and Center of Clinical Neuroscience (P.N., D.H.), First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic; Department of Neurology (A.A.), School of Medicine and Koc University Research Center for Translational Medicine (KUTTAM), Koc University, Istanbul, Turkey; College of Medicine & Health Sciences and Sultan Qaboos University Hospital (A.A.-A.), Sultan Qaboos University, Al-Khodh, Oman; Department of Neuroscience (C.M.R.-T.), Hospital Germans Trias I Pujol, Badalona, Spain; Department of Neurology (G.L.), University Hospital Ghent, Belgium; Department of Medical and Surgical Sciences and Advanced Technologies (F.P.), GF Ingrassia, Catania, Italy; Multiple Sclerosis Unit (F.P.), AOU Policlinico G Rodolico-San Marco, University of Catania; Department of Neuroscience (M.F.), MS Center, Neurology Unit, S. Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy; Department of Biotechnological and Applied Clinical Sciences (DISCAB) (M.F.), University of L'Aquila, Italy; Department of Neurology (C.B.), Karadeniz Technical University, Medical Faculty, Trabzon, Turkey; Department of Neurology (P.A.M.), Royal Brisbane Hospital; University of Queensland (P.A.M.), Australia; Department of Neurology (R.T.), Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey; Hunter Medical Research Institute (J.L.-S.), Neurology, University of Newcastle; and Hunter New England Health (J.L.-S.), John Hunter Hospital, New South Wales, Australia.

Article Synopsis
  • The study investigated the prevalence of two types of disability progression in patients with aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-IgG NMOSD): Progression Independent of Relapse Activity (PIRA) and Relapse-Associated Worsening (RAW).
  • It included 181 patients from the MSBase registry, mostly females with an average age of 38.1 years, monitored for an average of 4.5 years, where only 2.2% experienced PIRA and 7.2% experienced RAW.
  • The findings suggest PIRA is rare in AQP4-IgG NMOSD cases, but the study had limitations, such as using
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Background: The World Health Organisation (WHO) has identified a range of symptomatic manifestations to aid in the clinical diagnosis of post-COVID conditions, herein referred to as post-acute COVID-19 symptoms. We conducted an international network cohort study to estimate the burden of these symptoms in North American, European, and Asian populations.

Methods: A federated analysis was conducted including 10 databases from the United Kingdom, Netherlands, Norway, Estonia, Spain, France, South Korea, and the United States, between September 1st 2020 and latest data availability (which varied from December 31st 2021 to February 28th 2023), covering primary and secondary care, nationwide registries, and claims data, all mapped to the Observational Medical Outcomes Partnership Common Data Model (OMOP CDM).

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Endoscopic axillary lymphadenectomy: Tips & tricks.

Cir Esp (Engl Ed)

November 2024

Servicio Cirugía General y Digestiva, Hospital Universitario La Paz, Spain; Servicio Cirugía General y Digestiva, Centro de Patología Mamaria Fundación Tejerina, Madrid, Spain.

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Endoscopic axillary lymphadenectomy in 10 steps.

Cir Esp (Engl Ed)

November 2024

Servicio Cirugía General y Digestiva, Hospital Universitario La Paz, Spain; Servicio Cirugía General y Digestiva, Centro de Patología Mamaria Fundación Tejerina, Madrid, Spain.

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Background: Interstitial fibrosis and tubular atrophy (IFTA) is a critical factor in the prognosis of kidney health. Currently, IFTA quantitation in kidney biopsy samples is crucial for diagnosis and assessing disease severity, but the available non-invasive biomarkers are not satisfactory. Proteomic studies identified urinary vitronectin (VTN) as a potential biomarker for kidney fibrosis.

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Bone marrow is a dynamic organ with variable composition in relation to age or pathophysiological changes. Magnetic resonance imaging (MRI) is the technique of choice to assess the different components of the bone marrow based on the different information provided by the different characteristics of the MRI sequences. This article provides an overview of the MRI appearances of normal and abnormal bone marrow.

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Article Synopsis
  • A genome-wide association study was conducted to analyze cerebrospinal fluid (CSF) and brain metabolite levels, revealing 205 associations for CSF metabolites and 32 for brain metabolites, with a significant portion being new signals.
  • The research found that most new signals for CSF (96.9%) and brain metabolites (71.4%) were related to previously studied metabolites in blood and urine.
  • The study identified 71 metabolite-trait associations linked to various neurological and psychiatric conditions, enhancing understanding of how brain metabolism may influence human traits and diseases.
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The integration of quantitative trait loci (QTLs) with disease genome-wide association studies (GWASs) has proven successful in prioritizing candidate genes at disease-associated loci. QTL mapping has been focused on multi-tissue expression QTLs or plasma protein QTLs (pQTLs). We generated a cerebrospinal fluid (CSF) pQTL atlas by measuring 6,361 proteins in 3,506 samples.

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The impact of COVID-19 infection on multiple sclerosis disease course across 12 countries: a propensity-score-matched cohort study.

Ther Adv Neurol Disord

November 2024

Department of Neuroscience, Central Clinical School, Monash University, 99 Commercial Road, Melbourne, VIC 3004, Australia.

Background: The relationship between coronavirus disease 2019 (COVID-19) infection and multiple sclerosis (MS) relapse and disease progression remains unclear. Previous studies are limited by small sample sizes and most lack a propensity-matched control cohort.

Objective: To evaluate the effect of COVID-19 infection on MS disease course with a large propensity-matched cohort.

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Article Synopsis
  • The study aimed to compare the Asthma Control Test (ACT) and COPD Assessment Test (CAT) in relation to the severity of asthma-COPD overlap among smokers and former smokers in Spain.
  • Out of 157 patients, both tests showed a strong correlation, but the ACT had a better predictive value for exacerbations than the CAT.
  • Factors like anxiety, depression, and dyspnoea were linked to both tests, while age and other specific health scores were only associated with one of the tests.
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Background: The prevalence, characteristics, and prognosis of atrial functional mitral regurgitation (AFMR) based on severity remain unclear. No studies have systematically evaluated quantitative thresholds, such as effective regurgitant orifice area (EROA) or regurgitant volume, in relation to outcomes in AFMR. This multicenter study aimed to clarify the clinical implications of both qualitative and quantitative assessments of AFMR severity.

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Introduction: Genetic variations impact drug response, driving the need for personalised medicine through pre-emptive pharmacogenetic testing. However, the adoption of pre-emptive pharmacogenetic testing for commonly prescribed drugs, such as statins, outside of tertiary hospitals is limited due to a lack of pharmacoeconomic evidence to support widespread implementation by healthcare policy-makers. The Spanish Consortium for the Implementation of Pharmacogenetics (iPHARMGx Consortium) addresses this by developing a clinical trial master protocol that will govern multiple nested adaptive clinical trials that compare genotype-guided treatments to standard care in specific drug-gene-population triads, asses their cost-efficacy and identify novel biomarkers through advanced sequencing techniques.

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Prognostic Expression Signature of , , and Genes in Patients with Metastatic Hormone-sensitive Prostate Cancer Treated with Androgen Receptor Pathway Inhibitors.

Eur Urol Open Sci

December 2024

Translational Genomics and Targeted Therapeutics in Solid Tumours Lab, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.

Unlabelled: Alterations in the tumor suppressor genes (TSGs) , , and are associated with treatment resistance, worse survival, and aggressive variants of prostate cancer (AVPC). We previously developed and validated a signature reflecting low TSG expression (TSG) that was associated with poor outcomes in patients with metastatic hormone-sensitive prostate cancer (mHSPC) treated with androgen deprivation therapy (ADT) ± docetaxel. The aim of this multicenter retrospective study was to validate the TSG signature in patients with mHSPC treated with ADT and an androgen receptor pathway inhibitor (ARPI) and to explore clinical characteristics at progression according to TSG status.

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Early Telephone-Based Frailty Screening With the Vulnerable Elders Survey in Adults Aged 75 Years and Older With Lung and Gynecological Cancer.

Cancer Nurs

November 2024

Author Affiliations: Department Research, Catalan Institute of Oncology-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona; GRIN Group, IDIBELL, Institute of Biomedical Research; NURECARE-IGTP Foundation, Badalona (Dr Cabrera-Jaime); Hospital Universitari de Bellvitge; Universitat de Barcelona; GRIN Group, IDIBELL (Dr Adamuz-Tomas); and Oncology Nursing Department, Catalan Institute of Oncology-Hospital Germans Trias i Pujol (Mrs Hernández-Marfil and Mrs Sánchez-Martín), Spain.

Article Synopsis
  • The International Society of Geriatric Oncology advises that older cancer patients undergo a geriatric evaluation prior to treatment to assess their health status.
  • A study involving 362 older adults (75+) with lung or gynecological cancer found that over half were at risk of health deterioration, with significant agreement between frailty assessments using different evaluation methods.
  • Implementing telephone-based frailty screenings can help healthcare providers tailor cancer treatment plans, enhancing patient care by addressing individual health risks and needs.
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We aimed to identify plasma cell-free transcripts (cfRNA) associated with Parkinson's disease (PD) that also have a high predictive value to differentiate PD from healthy controls. Leveraging two independent populations from two different movement disorder centers we identified 2,188 differentially expressed cfRNAs after meta-analysis. The identified transcripts were enriched in PD relevant pathways, such as PD (p=9.

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Background: Endoscopic management of abdominal collections includes endoscopic ultrasound (EUS)-guided transmural drainage, transpapillar via endoscopic retrograde cholangiopancreatography (ERCP), and EUS-guided simple puncture-aspiration (SPA). The latter is little reported, and there are some doubts about its real usefulness.

Objectives: The aim of this study was to assess the effectiveness of EUS-guided SPA as a first-line approach for treatment in selected abdominal collections.

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Background: LAMVYX was a multicenter, single-arm, phase 2 trial designed to validate the safety and efficacy of CPX-351 in patients aged 60-75 years with newly diagnosed, secondary acute myeloid leukemia and to generate evidence on key issues not addressed in the preceding regulatory pivotal trial.

Methods: The primary end point of the study was the complete remission (CR)/CR with incomplete hematologic recovery (CRi) rate after induction. Eligible patients were recommended to undergo allogeneic hematopoietic stem cell transplantation after the first consolidation cycle.

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The Valve Academic Research Consortium for High Bleeding Risk (VARC-HBR) has recently introduced a consensus document that outlines risk factors to identify high bleeding risk (HBR) in patients undergoing transcatheter aortic valve replacement (TAVR). The objective of the present study was to evaluate the prevalence and predictive value of the VARC-HBR definition in a contemporary, large-scale TAVR population. Multicenter study including 10,449 patients undergoing TAVR.

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Chimeric antigen receptor (CAR) T-cell therapy fails to achieve durable responses in over 60% of relapsed/refractory (R/R) large B-cell lymphoma (LBCL) patients in the third or later line setting. After CAR-T failure, survival outcomes are heterogeneous and a prognostic model in this patient population is lacking. A training cohort of 216 patients with progressive disease (PD) after CAR-T from 12 Spanish centers was used to develop the Post-CAR Prognostic Index (PC-PI); primary endpoint was overall survival (OS) from CAR-T progression.

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Background: Guideline-recommended hyperkalaemia management includes dietary potassium (K) restriction, bicarbonate correction, diuretics and K binders with dose reduction of renin-angiotensin-aldosterone system inhibitors as a last resort. The extent to which these recommendations are implemented is uncertain, as real-world data on hyperkalaemia management are limited. The Tracking Treatment Pathways in Adult Patients with Hyperkalemia (TRACK) study is a multinational, prospective, longitudinal study that is being conducted to address this knowledge gap.

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Article Synopsis
  • * It compared 40 PWH divided into two age groups (40-45 and ≥60 years) with 30 HIV-negative controls matched by sex and age.
  • * Results indicate that older PWH had more health issues and higher CD8 T cell counts, while younger PWH showed signs of accelerated immune aging and higher inflammatory markers, suggesting a need for early medical interventions.
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