Alicia Martínez‐Piñeiro
A5006390943- Acute Ischemic Stroke Management
- Genetic Neurodegenerative Diseases
- Cerebrovascular and Carotid Artery Diseases
- Stroke Rehabilitation and Recovery
- Peripheral Neuropathies and Disorders
- Venous Thromboembolism Diagnosis and Management
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Amyotrophic Lateral Sclerosis Research
- Respiratory and Cough-Related Research
- Intraoperative Neuromonitoring and Anesthetic Effects
- Glycogen Storage Diseases and Myoclonus
- Vagus Nerve Stimulation Research
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Autoimmune Bullous Skin Diseases
- Monoclonal and Polyclonal Antibodies Research
- Myasthenia Gravis and Thymoma
- Neurological disorders and treatments
- Caveolin-1 and cellular processes
- Thyroid and Parathyroid Surgery
- Fungal and yeast genetics research
- Lysosomal Storage Disorders Research
- Ear Surgery and Otitis Media
Universitat Autònoma de Barcelona
2017-2024
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2018-2024
Hospital Universitari Germans Trias i Pujol
2016-2024
Health and Education Research Management and Epidemiologic Services (United States)
2023
Badalona Serveis Assistencials
2023
Clinical Trial Investigators
2022
Centro de Investigación Biomédica en Red
2020
Centre for Biomedical Network Research on Rare Diseases
2020
Hospital de Sant Pau
2020
Biomedical Research Networking Center on Neurodegenerative Diseases
2020
Background and Purpose— A progressive decline in the odds of favorable outcome as time to reperfusion increases is well known. However, impact specific workflow intervals not clear. Methods— We studied mechanical thrombectomy group (n=103) prospective, randomized REVASCAT (Randomized Trial Revascularization With Solitaire FR Device Versus Best Medical Therapy Treatment Acute Stroke due Anterior Circulation Large Vessel Occlusion Presenting Within Eight Hours Symptom Onset) trial. defined 3...
To describe the characteristics of patients with very-late-onset myasthenia gravis (MG).This observational cross-sectional multicenter study was based on information in neurologist-driven Spanish Registry Neuromuscular Diseases (NMD-ES). All were >18 years age at onset MG and occurred between 2000 2016 all cases. Patients classified into 3 subgroups: early-onset (age <50 years), late-onset (onset ≥50 <65 ≥65 years). Demographic, immunologic, clinical, therapeutic data reviewed.A total 939...
Prognosis of myasthenia gravis (MG) in patients with thymoma is not well established. Moreover, it clear whether recurrence or unresectable lesions entail a worse prognosis MG.This multicenter study was based on data from Spanish neurologist-driven MG registry. All were aged >18 years at onset and had anti-acetylcholine receptor antibodies. We compared the clinical thymomatous nonthymomatous patients. recurrent nonresectable thymomas assessed.We included 964 15 hospitals; 148 (15.4%)...
The aim of the research is to study human leukocyte antigen (HLA) class II allele frequencies in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated with anti-neurofascin 155 (NF155) antibodies.Thirteen anti-NF155+ and 35 anti-NF155 negative (anti-NF155neg) CIDP patients were included a case-control study. DRB1 HLA analyzed all while DQ only studied sharing DRB1*15 allele. In silico HLA-peptide binding NF155 antigenicity, predictions performed analyze overlap between...
<h3>Background and Objectives</h3> To study the clinical laboratory features of antineurofascin-155 (NF155)–positive autoimmune nodopathy (AN). <h3>Methods</h3> Patients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical characteristics, treatment response, functional scales (modified Rankin Scale [mRS] Inflammatory Rasch-built Overall Disability [I-RODS]) retrospectively collected at baseline follow-up. Autoantibody neurofilament light (NfL) chain...
The post-COVID-19 condition (PCC) is a disabling syndrome affecting at least 5%-10% of subjects who survive COVID-19. SARS-CoV-2 mediated vagus nerve dysfunction could explain some PCC symptoms, such as dysphonia, dysphagia, dyspnea, dizziness, tachycardia, orthostatic hypotension, gastrointestinal disturbances, or neurocognitive complaints.
Spinocerebellar ataxias consist of a highly heterogeneous group inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced the myriad genes and underlying defects identified. In this study, we describe new spinocerebellar subtype in nine members Spanish five-generation family from Menorca affected individuals presenting ataxia, nystagmus, dysarthria,...
Carriage of interruptions in CTG repeats the myotonic dystrophy protein kinase gene has been associated with a broad spectrum type 1 (DM1) phenotypes, mostly mild. However, data available on interrupted DM1 patients and their phenotype are scarce. We studied 49 Spanish patients, whose clinical was evaluated depth. Blood DNA obtained analyzed through triplet-primed polymerase chain reaction (PCR), long PCR-Southern blot, small pool PCR, AciI digestion, sequencing. Five our registry (10%),...
We aim to assess whether time of day modified the treatment effect in RACECAT trial (Direct Transfer an Endovascular Center Compared Closest Stroke Acute Patients With Suspected Large Vessel Occlusion Trial), a cluster-randomized that did not demonstrate benefit direct transportation thrombectomy-capable center versus nearest local stroke for patients with suspected large vessel triaged nonurban Catalonia between March 2017 and June 2020.We performed post hoc analysis evaluate if association...
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We aim to compare the outcome of patients from urban areas, where referral center is able perform thrombectomy, with nonurban areas enrolled in RACECAT trial (Direct Transfer an Endovascular Center Compared Closest Stroke Acute Patients With Suspected Large Vessel Occlusion).Patients suspected large vessel occlusion stroke, as evaluated by a Rapid Arterial Occlusion Evaluation score ≥5, catchment thrombectomy-capable centers during enrollment period were included Code Registry Catalonia....
Myotonic Dystrophy type 1 (DM1) is a muscular dystrophy with multi-systemic nature. It was one of the first diseases in which repeat associated non-ATG (RAN) translation described 2011, but has not been further explored since. In order to enhance our knowledge RAN DM1, we decided study presence DM1 antisense (DM1-AS) transcripts (the origin polyglutamine (polyGln) protein) using RT-PCR and FISH, that via immunoblotting immunofluorescence distinct primary cell cultures, e.g., myoblasts, skin...
The number of cytosine-thymine-guanine (CTG) repeats (‘CTG expansion size’) in the 3′untranslated region (UTR) dystrophia myotonica-protein kinase (DMPK) gene is a hallmark myotonic dystrophy type 1 (DM1), which has been related to age disease onset and clinical severity. However, accurate determination CTG size challenging due its characteristic instability. We compared five different approaches (heat pulse extension polymerase chain reaction [PCR], long PCR-Southern blot [with three...
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the variability in DM1 might help to determine whether there an association between CTG (Cytosine-Thymine-Guanine) expansion manifestations this condition. We studied (progenitor, mode, longest allele, respectively, instability) three tissues (blood, muscle, tissue) from eight patients with DM1. also data patients' characteristics. Although instability was confirmed all that we...
We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1).We obtained myoblasts from 6 patients with DM1 and controls. measured cytosine-thymine-guanine (CTG) expansion detected RNA foci muscleblind like (MBNL1) through reconstruction. studied dystrophia myotonica protein kinase (DMPK) expression splicing alterations of MBNL1, insulin receptor, sarcoplasmic reticulum Ca(2+)-ATPase 1.Three-dimensional analysis...
Background: Previously published retrospective series show a high prevalence of fecal incontinence (FI) in stroke patients. We aimed to analyze prospective the current incidence FI acute functionally independent patients and its evolution over time patient characteristics associated with appearance stroke. Methods: included consecutive admitted our unit who fulfilled following inclusion criteria: first episode stroke, aged >18 years, no previous functional dependency [modified Rankin Scale...
Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to complexity DM1, we compared DNA methylation profiles four annotated CpG islands (CpGis) in DMPK locus and neighbouring genes, distinct DM1 tissues derived cells, representing six subtypes, by bisulphite sequencing. In blood, found no differences CpGi 74, 43 36 profile. contrast, CTCF1 gradient was with 100% congenital cases, 50% childhood cases 13%...
The phrenic nerve could be easily injured during cardiothoracic surgeries because of its anatomical relationships. aim this study is to describe a new, feasible, and reproducible methodology achieve continuous intraoperative neuromonitoring the nerve.Consecutive patients who underwent open-chest surgery were included. recording active electrode was placed 5 cm superior tip xiphoid process, hook wire inserted at motor point ipsilateral hemidiaphragm used as reference electrode.We studied 45...
Historically, cellular models have been used as a tool to study myotonic dystrophy type 1 (DM1) and the validation of therapies in said pathology. However, there is need for