40 results match your criteria: "Donostia Universitary Hospital[Affiliation]"
Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.
Lancet
December 2025
Biomedical Innovation Unit, Center for Research on Energy, Environment and Technology (CIEMAT), Madrid, Spain; Biomedical Network Research Center for Rare Diseases (CIBERER), Madrid, Spain; Sanitary Research Institute Fundación Jiménez Díaz (U.A.M), Madrid, Spain. Electronic address:
Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.
Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.
Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia.
Neurology
December 2024
From the Integrated Program in Neuroscience (P.T.B.), McGill, Montréal, Canada; Department of Neurology (J.C.V.S., H.S., L.C.J.), Erasmus Medical Centre, Rotterdam, Netherlands; Department of Neurology (F.M.), Donostia Universitary Hospital, San Sebastián, Spain; Institut D'Investigacións Biomèdiques August Pi I Sunyer (R.S.-V.), University of Barcelona, Spain; Faculté de Médecine (R.L.), Université Laval, Québec City, Canada; Department of Neurobiology (C.G.), Karolinska Institutet, Solna, Sweden; Sunnybrook Research Institute (M.M.), Toronto, Canada; Tanz Centre for Research in Neurodegenerative Diseases (C.T.), University of Toronto, Canada; Department of Clinical Neurosciences (J.B.R.), University of Cambridge, United Kingdom; Department of Clinical and Experimental Sciences (B.B.), University of Brescia, Italy; Department of Clinical Neurological Sciences (E.F.), University of Western Ontario, London, Canada; Hertie-Institute for Clinical Brain Research and Center of Neurology (M.S.), University of Tübingen, Germany; Neurology (D.G.), University of Milan, Italy; Department of Neurosciences (R.V.), KU Leuven, Belgium; Faculty of Medicine (A.M.), University of Lisbon, Portugal; Nuffield Department of Clinical Neurosciences (C.B.), University of Oxford, United Kingdom; Wolfson Molecular Imaging Centre (A.G.), University of Manchester, United Kingdom; Institut du Cerveau-ICM (I.L.B.), Hôpital Pitié-Salpêtrière, Paris, France; 31Fondazione IRCCS (P.T.), Istituto Neurologico Carlo Besta, Milan, Italy; Faculty of Medicine (I.S.), University of Coimbra, Portugal; Department of Neurology (F.P.), Université Lille, France; Department of Neurology (J.L.), Ludwig-Maximilians Universität München, Munich, Germany; Department of Neurology (M.O.), University of Ulm, Germany; Department of Neurofarba (S.S.), University of Florence, Italy; Department of Neurodegenerative Disease (A.B., D.M.C., L.L.R., M.B., J.D.R.), University College London, United Kingdom; and Department of Psychiatry (G.A.D., M.C., S.D.), McGill University, Montréal, Canada.
Background And Objectives: Sleep dysfunction is common in patients with neurodegenerative disorders; however, its neural underpinnings remain poorly characterized in genetic frontotemporal dementia (FTD). Hypothalamic nuclei important for sleep regulation may be related to this dysfunction. Thus, we examined changes in hypothalamic structure across the lifespan in patients with genetic FTD and whether these changes related to sleep dysfunction.
View Article and Find Full Text PDFAssociation of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With Frontotemporal Dementia.
Neurology
December 2024
From the Alzheimer's Disease and Other Cognitive Disorders Unit (S.B.-E., J.J.-P., A.P.M., M.B., A.L., R.S.-V.), Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Fundació Clínic per a la Recerca Biomèdica, Universitat de Barcelona, Spain; VIB Center for Molecular Neurology (M.V., R.R.); Department of Biomedical Sciences (M.V., R.R.), University of Antwerp, Belgium; Dementia Research Centre (A.B., L.L.R., P.H.F., E.F.-B., J.D.R.), Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (J.C.V.S., L.C.J., H.S.), Erasmus Medical Centre, Rotterdam, Netherlands; Clinique Interdisciplinaire de Mémoire (R.L.), Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, Canada; Division of Neurogeriatrics, Bioclinicum (C.G.), Department of Neurobiology, Care Sciences and Society; Center for Alzheimer Research, Karolinska Institutet; Unit for Hereditary Dementias (C.G.), Theme Inflammation and Aging, Karolinska University Hospital, Solna, Sweden; Department of Biomedical (D.G.), Surgical and Dental Sciences, University of Milan; Fondazione Ca' Granda (D.G.), IRCCS Ospedale Policlinico, Milan, Italy; Laboratory for Cognitive Neurology (R.V.), Department of Neurosciences, KU Leuven; Neurology Service (R.V.), University Hospitals Leuven; Leuven Brain Institute (R.V.), KU Leuven, Belgium; Faculty of Medicine (A.M.), University of Lisbon, Portugal; Fondazione IRCCS Istituto Neurologico Carlo Besta (P.T.), Milano, Italy; Neurology Service (I.S.), Faculty of Medicine, University Hospital of Coimbra (HUC), University of Coimbra; Center for Neuroscience and Cell Biology (I.S.), Faculty of Medicine, University of Coimbra, Portugal; Division of Psychology Communication and Human Neuroscience (A.G.), Wolfson Molecular Imaging Centre, University of Manchester, United Kingdom; Department of Nuclear Medicine (A.G.), Center for Translational Neuro- and Behavioral Sciences, University Medicine Essen; Department of Geriatric Medicine (A.G.), Klinikum Hochsauerland, Arnsberg; Department of Neurology (J.L.), Ludwig-Maximilians Universität München; German Center for Neurodegenerative Diseases (DZNE) (J.L.); Munich Cluster of Systems Neurology (SyNergy) (J.L.), Munich, Germany; Department of Neurofarba (S.S.), University of Florence; IRCCS Fondazione Don Carlo Gnocchi (S.S.), Florence, Italy; Department of Neurology (M.O.), University of Ulm, Germany; Univ Lille (F.P.), France; Department of Psychiatry (S.D.), McGill University Health Centre, McConnell Brain Imaging Centre (S.D.), Montreal Neurological Institute, McGill University, Montreal, Québec, Canada; Medical Sciences Division (C.B.), Nuffield Department of Clinical Neurosciences, University of Oxford, Department of Brain Sciences (C.B.), Imperial College London, United Kingdom; Sorbonne Université (I.L.B.), Paris Brain Institute-Institut du Cerveau-ICM, Inserm U1127, CNRS UMR 7225; Centre de référence des démences rares ou précoces (I.L.B.), IM2A, Département de Neurologie; Département de Neurologie (I.L.B.), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Department of Clinical Neurological Sciences (E.F.), University of Western Ontario, London; Tanz Centre for Research in Neurodegenerative Diseases (M.C.T.), Ontario; Sunnybrook Health Sciences Centre (M.M.), Sunnybrook Research Institute, University of Toronto, Canada; Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust (J.B.R.), University of Cambridge, United Kingdom; Department of Neurodegenerative Diseases (M.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany; Cognitive Disorders Unit (F.M.), Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain; Neurology Unit (B.B.), Department of Clinical and Experimental Sciences, University of Brescia, Italy; and Department of Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL.
Background And Objectives: Pathogenic variants in the gene cause frontotemporal dementia (FTD-) with marked brain asymmetry. This study aims to assess whether the disease progression of FTD- depends on the initial side of the atrophy. We also investigated the potential use of brain asymmetry as a biomarker of the disease.
View Article and Find Full Text PDFFrequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia.
Neurology
October 2024
From the Department of Neurology (S. Schönecker, A.D., O.W., C.P., E.W., J.V., S.V.L., A. Brauer, G.U.H., J.L.), LMU University Hospital, LMU Munich, Germany; Department of Signal Theory Networking and Communications (F.J.M.-M., J.-M.G.S.), Andalusian Research Institute in Data Science and Computational Intelligence (DasCI), University of Granada, Spain; Institute for Stroke and Dementia Research (J.D., N.F.), LMU University Hospital, LMU Munich; Munich Cluster for Systems Neurology (SyNergy) (N.F., G.U.H., J.L.), Germany; Institute of Neuroscience and Physiology and Department of Psychiatry and Neurochemistry (N.F.), The Sahlgrenska Academy, University of Gothenburg, Mölndal and Gothenburg, Sweden; German Center for Neurodegenerative Diseases (DZNE) (J.V., G.U.H., J.L.), Munich, Germany; Dementia Research Centre (A. Bouzigues, L.L.R., P.H.F., E.F.-B., J.D.R.), Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (J.C.v.S., L.C.J., H.S.), Erasmus Medical Centre, Rotterdam, the Netherlands; Alzheimer's disease and Other Cognitive Disorders Unit (R.S.-V.), Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Spain; Clinique Interdisciplinaire de Mémoire (R.L.), Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, Canada; Department of Neurobiology, Care Sciences and Society (C.G.), Center for Alzheimer Research, Division of Neurogeriatrics, Bioclinium, Karolinska Institutet; Unit for Hereditary Dementias (C.G.), Theme Inflammation and Aging, Karolinska University Hospital, Solna, Sweden; Fondazione Ca' Granda (D.G.), IRCCS Ospedale Policlinico, Milan; Centro Dino Ferrari (D.G.), University of Milan, Italy; Laboratory for Cognitive Neurology (R.V.), Department of Neurosciences, KU Leuven; Neurology Service (R.V.), University Hospitals Leuven; Leuven Brain Institute (R.V.), KU Leuven, Belgium; Faculty of Medicine (A.d.M.), University of Lisbon, Portugal; Fondazione IRCCS Istituto Neurologico Carlo Besta (P.T.), Milano, Italy; University Hospital of Coimbra (HUC) (I.S.), Neurology Service, Faculty of Medicine, and Center for Neuroscience and Cell Biology (I.S.), Faculty of Medicine, University of Coimbra, Portugal; Division of Psychology Communication and Human Neuroscience Wolfson Molecular Imaging Centre (A.G.), University of Manchester, United Kingdom; Department of Nuclear Medicine (A.G.), Center for Translational Neuro- and Behavioral Sciences, University Medicine Essen; Department of Geriatric Medicine (A.G.), Klinikum Hochsauerland, Arnsberg, Germany; Department of Neurofarba (S. Sorbi), University of Florence; IRCCS Fondazione Don Carlo Gnocchi (S. Sorbi), Florence, Italy; Department of Neurology (M.O.), University of Ulm, Germany; Univ Lille (F.P.); Inserm 1172 (F.P.), Lille; CHU (F.P.), CNR-MAJ, Labex Distalz, LiCEND Lille, France; Department of Psychiatry (S.D.), McGill University Health Centre, and McConnell Brain Imaging Centre (S.D.), Montreal Neurological Institute, McGill University, Montreal, Québec, Canada; Nuffield Department of Clinical Neurosciences (C.B.), Medical Sciences Division, University of Oxford; Department of Brain Sciences (C.B.), Imperial College London, United Kingdom; Sorbonne Université (I.L.B.), Paris Brain Institute, Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225, Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, and Département de Neurologie (I.L.B.), AP-HP, Hôpital Pitié-Salpêtrière, Paris, France; Department of Clinical Neurological Sciences (E.F.), University of Western Ontario, London; Tanz Centre for Research in Neurodegenerative Diseases (M.C.T.), and Sunnybrook Health Sciences Centre (M.M.), Sunnybrook Research Institute, University of Toronto, Ontario, Canada; Department of Clinical Neurosciences (J.B.R.), MRC Cognition and Brain Sciences Unit, and Cambridge University Hospitals NHS Trust, University of Cambridge, United Kingdom; Department of Neurodegenerative Diseases (M.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany; Cognitive Disorders Unit (F.M.), Department of Neurology, Donostia Universitary Hospital; Neuroscience Area (F.M.), Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain; Neurology Unit (B.B.), Department of Clinical and Experimental Sciences, University of Brescia, Italy; and Department of Psychiatry and Psychotherapy (J.P.), Technical University Munich, Germany.
Background And Objectives: Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral and neuropsychiatric phenotypes in genetic FTD, quantify their temporal association, and investigate their regional association with brain atrophy.
Methods: We analyzed data of pathogenic variant carriers in the chromosome 9 open reading frame 72 (), progranulin (), or microtubule-associated protein tau () gene from the Genetic Frontotemporal dementia Initiative cohort study that enrolls both symptomatic pathogenic variant carriers and first-degree relatives of known carriers.
Inflammatory plasma profile in genetic symptomatic and presymptomatic Frontotemporal Dementia - A GENFI study.
Brain Behav Immun
November 2024
Dept. of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:
Background: Inflammation has been proposed as a crucial player in neurodegeneration, including Frontotemporal Dementia (FTD). A few studies on sporadic FTD lead to inconclusive results, whereas large studies on genetic FTD are lacking. The aim of this study is to determine cytokine and chemokine plasma circulating levels in a large cohort of genetic FTD, collected within the GENetic Frontotemporal dementia Initiative (GENFI).
View Article and Find Full Text PDFLong Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study.
J Alzheimers Dis
August 2024
Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Background: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in genetic FTD involving Chromosome 9 Open Reading Frame (C9ORF72), Microtubule Associated Protein Tau (MAPT), and Progranulin (GRN) genes are not well understood.
Objective: This study aimed to profile the expression levels of lncRNAs in peripheral blood mononuclear cells collected within the GENetic Frontotemporal dementia Initiative (GENFI).
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Alzheimers Dement (Amst)
April 2024
Introduction: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD).
Methods: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI).
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
J Neurol Neurosurg Psychiatry
August 2024
Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany
Background: Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing its (1) reliability across labs; (2) reliability to stratify gFTD disease stages; (3) comparability between blood matrices and (4) stability across recruiting sites.
Methods: Comparative analysis of blood NfL levels in a large gFTD cohort (GENFI) for (1)-(4), with n=344 samples (n=148 presymptomatic, n=11 converter, n=46 symptomatic subjects, with mutations in , or ; and n=139 within-family controls), each measured in three different international labs by Simoa HD-1 analyzer.
Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.
J Neurol Sci
August 2023
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address:
Objective: To identify whether language impairment exists presymptomatically in genetic frontotemporal dementia (FTD), and if so, the key differences between the main genetic mutation groups.
Methods: 682 participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 290 asymptomatic and 82 prodromal mutation carriers (with C9orf72, GRN, and MAPT mutations) as well as 310 mutation-negative controls. Language was assessed using items from the Progressive Aphasia Severity Scale, as well as the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency task.
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia.
Brain Commun
February 2023
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
Article Synopsis
- Primary progressive aphasia (PPA) can be sporadic or genetic, and this study aimed to compare the clinical and cognitive traits of genetic PPA with different subtypes of sporadic PPA.
- The study involved participants who were diagnosed through a comprehensive evaluation, including language, behavioral, and cognitive assessments, and brain imaging via MRI.
- Results showed that genetic nonfluent variant PPA shared similarities with sporadic nonfluent variant PPA, but a group identified as "primary progressive aphasia-not otherwise specified" exhibited unique linguistic deficits not seen in the sporadic forms.
Language impairment in the genetic forms of behavioural variant frontotemporal dementia.
J Neurol
April 2023
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Background: Behavioural variant fronto-temporal dementia (bvFTD) is characterised by a progressive change in personality in association with atrophy of the frontal and temporal lobes. Whilst language impairment has been described in people with bvFTD, little is currently known about the extent or type of linguistic difficulties that occur, particularly in the genetic forms.
Methods: Participants with genetic bvFTD along with healthy controls were recruited from the international multicentre Genetic FTD Initiative (GENFI).
Albuminuria as a biomarker of severity in diabetic retinopathy and in the response to intravitreal treatment in diabetic macular edema.
Int Ophthalmol
June 2023
Department of Ophthalmology, Donostia University Hospital, Paseo Dr Beguiristain S/N, 20014, Donostia San-Sebastian, Gipuzkoa, Spain.
Purpose: Diabetic macular edema (DME) presents a suboptimal response to antiangiogenic treatment in approximately 30% of patients. We analyzed the relationship between renal function and response to antiangiogenic therapy in patients with DME.
Methods: A total of 367 patients were collected and distributed into three main groups: uncomplicated diabetic retinopathy (DR) group (n = 97), proliferative diabetic retinopathy (PDR) group (n = 94) and DME group (n = 175).
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
J Neurol
March 2023
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Objective: To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD).
Methods: Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used to assess eight motor symptoms (dysarthria, dysphagia, tremor, slowness, weakness, gait disorder, falls and functional difficulties using hands).
Influence of depression on survival of colorectal cancer patients drawn from a large prospective cohort.
Psychooncology
October 2022
Research Unit, Costa del Sol Health Agency, Marbella, Spain.
Article Synopsis
- * It utilized a large sample of 2602 CRC patients, using the Hospital Anxiety and Depression Scale for measurement and analyzing survival data with advanced statistical methods.
- * Results indicated that depression significantly increases the risk of poor survival outcomes, suggesting the need for regular screening and treatment of depressive symptoms in CRC patients to improve their overall prognosis.
The CBI-R detects early behavioural impairment in genetic frontotemporal dementia.
Ann Clin Transl Neurol
May 2022
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
Introduction: Behavioural dysfunction is a key feature of genetic frontotemporal dementia (FTD) but validated clinical scales measuring behaviour are lacking at present.
Methods: We assessed behaviour using the revised version of the Cambridge Behavioural Inventory (CBI-R) in 733 participants from the Genetic FTD Initiative study: 466 mutation carriers (195 C9orf72, 76 MAPT, 195 GRN) and 267 non-mutation carriers (controls). All mutation carriers were stratified according to their global CDR plus NACC FTLD score into three groups: asymptomatic (CDR = 0), prodromal (CDR = 0.
Comparison of Cardiovascular Risk and Events among Spanish Patients with and without Ocular Pseudoexfoliation.
J Clin Med
April 2022
Department of Ophthalmology, Donostia Universitary Hospital, 20014 Donostia-San Sebastian, Spain.
The purpose of this study was to calculate and compare individual cardiovascular risk (CVR) and the development of cardiovascular events and mortality in patients with and without ocular pseudoexfoliation (PEX). A cohort study was carried out to compare two groups of patients who underwent cataract surgery: patients with ( = 99) and without PEX ( = 239). The CVR factors were recorded for all the subjects, and CVR was calculated for each individual using ERICE risk assessment charts.
View Article and Find Full Text PDFInfluence of Diagnostic Delay on Survival Rates for Patients with Colorectal Cancer.
Int J Environ Res Public Health
March 2022
Research Unit, Agencia Sanitaria Costa del Sol, 29603 Marbella, Spain.
Article Synopsis
- Colorectal cancer affects both men and women, and diagnosis can be delayed due to various factors like absence of symptoms or lack of screening tests.
- A study involving 1,688 patients across 22 Spanish hospitals aimed to assess whether delayed diagnosis impacts overall survival at five years.
- Results showed that a diagnostic delay of more than 30 days did not worsen prognosis, while delays less than 30 days were linked to shorter survival, suggesting that quicker diagnoses are often related to more severe cases.
Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort.
Cortex
May 2022
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address:
Background: Reduced empathy is a common symptom in frontotemporal dementia (FTD). Although empathy deficits have been extensively researched in sporadic cases, few studies have explored the differences in familial forms of FTD.
Methods: Empathy was examined using a modified version of the Interpersonal Reactivity Index (mIRI) in 676 participants from the Genetic FTD Initiative: 216 mutation-negative controls, 192 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers.
Outpatients' Opinion And Experience Regarding Telepharmacy During The COVID-19 Pandemic: The Enopex Project.
J Multidiscip Healthc
December 2021
Pharmacy Department, Virgen de Valme Universitary Hospital, Sevilla, Spain.
Background: Telepharmacy, as a remote pharmaceutical care procedure, is being used worldwide during the COVID-19 pandemic, with the aim of preserving the health of patients and professionals. Its future development should incorporate the assessment of patient perception, but no research study has investigated it.
Objective: The objective was to poll the opinions and experiences of outpatients with telepharmacy through a purpose-developed questionnaire and to assess it's quality through an internal validity and reliability analysis.
Risk scores to predict mortality 2 and 5 years after surgery for colorectal cancer in elderly patients.
World J Surg Oncol
August 2021
Osakidetza Basque Health Service, Galdakao - Usansolo Hospital (Research Unit), Galdakao, Basque Country, Spain.
Background: The aim of this study was to identify predictors of mortality in elderly patients undergoing colorectal cancer surgery and to develop a risk score.
Methods: This was an observational prospective cohort study. Individuals over 80 years diagnosed with colorectal cancer and treated surgically were recruited in 18 hospitals in the Spanish National Health Service, between June 2010 and December 2012, and were followed up 1, 2, 3, and 5 years after surgery.
Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes.
Alzheimers Dement
June 2021
Department of Clinical Neurosciences, Cambridge University Hospitals NHS Trust, University of Cambridge, Cambridge, UK.
Introduction: Apathy adversely affects prognosis and survival of patients with frontotemporal dementia (FTD). We test whether apathy develops in presymptomatic genetic FTD, and is associated with cognitive decline and brain atrophy.
Methods: Presymptomatic carriers of MAPT, GRN or C9orf72 mutations (N = 304), and relatives without mutations (N = 296) underwent clinical assessments and MRI at baseline, and annually for 2 years.
Outside-in arthroscopic psoas release for anterior iliopsoas impingement after primary total hip arthroplasty.
Hip Int
September 2021
Department of Orthopaedic Surgery and Trauma, Donostia Universitary Hospital, San Sebastián, Spain.
Purpose: 1 of the causes of groin pain after total hip arthroplasty (THA) is impingement of the iliopsoas tendon. The purpose of this study was to present our results with outside-in arthroscopic tenotomy for iliopsoas impingement after THA.
Methods: We retrospectively reviewed 12 patients treated between 2009 and 2016 with a minimum follow-up of 2 years.
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
Lancet Neurol
February 2020
Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK. Electronic address:
Background: Frontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72.
View Article and Find Full Text PDFPractical guide to quantification of hepatic iron with MRI.
Eur Radiol
January 2020
CHU Rennes, Inserm, LTSI - UMR_S 1099, University of Rennes, F-35000, Rennes, France.
Our intention is to demystify the MR quantification of hepatic iron (i.e., the liver iron concentration) and give you a step-by-step approach by answering the most pertinent questions.
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