6,285 results match your criteria: "Servicio de Neurologia; Hospital Universitario del Aire[Affiliation]"

Expanding the Clinical Spectrum of -Associated Charcot-Marie-Tooth Disease.

Neurology

April 2024

From the Servicio de Neurología (R.S., J.I.T., T.S.) and Servicio de Neurofisiología (E.M.), Unidad de Enfermedades Neuromusculares, Hospital Universitari i Politècnic La Fe, Grupo de Investigación en enfermedades neuromusculares y ataxias, Instituto de Investigación Sanitaria La Fe, Valencia; CIBER de enfermedades raras (CIBERER) (R.S., C.D.-G., I.A., J.J.V., C.E., T.S.) and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (A.L.P.-N., E.G.), Instituto de Salud Carlos III, Madrid; Servicio de Neurología (A.L.P.-N.), Hospital Universitario Marqués de Valdecilla (IDIVAL), Santander; Departamento de Neurología (I.J., M.I.P.L.), Hospital Universitario de Navarra, Instituto de Investigación Sanitaria de Navarra-IdiSNA, Pamplona; Servicio de Neurología (C.D.-G., L.B.-G.), Unidad de Enfermedades Neuromusculares, Hospital Universitario 12 de Octubre, Grupo de Investigación en Enfermedades mitocondriales y neuromusculares, Instituto de Investigación imas12; Servicio de Neurología (A.H.) and Unidad de Genética Clínica (M.M.F.-C.), Servicio de Análisis Clínicos, Instituto de Medicina de Laboratorio, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos de Madrid-IdISSC; Servicio de Neurología (F.J.R.D.R.), Instituto de Investigación Sanitaria del Hospital Universitario La Paz - IDIPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid; Servicio de Radiodiagnóstico (E.G.), Hospital Universitario Marqués de Valdecilla, Santander; Grupo de Investigación en enfermedades neuromusculares y ataxias (I.A., J.J.V.), Instituto de Investigación Sanitaria La Fe, Valencia; Área de Neurología (M.C.), Health in code; Unidad de Genética Clínica (M.M.F.-C.), Servicio de Análisis Clínicos, Instituto de Medicina de Laboratorio, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos de Madrid-IdISSC; Lab of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia; Unidad de Medicina Genómica (M.A.-R.), Instituto de Investigación Sanitaria de Navarra-IdiSNA, Universidad Pública de Navarra (UPNA), Navarrabiomed, Hospital Universitario de Navarra (HUN), Pamplona; and Departamento de Medicina (T.S.), Universitat de Valencia, Spain.

Article Synopsis
  • Germline mutations in the DRP2 gene are linked to Charcot-Marie-Tooth disease (CMT), but the details of how these mutations cause the disease are still not fully understood.
  • A study involving 9 CMT patients across 6 centers in Spain found 4 different pathogenic variants, with men showing symptoms while heterozygous women remained asymptomatic.
  • The results indicate that the disease leads to late-onset sensory and motor neuropathy, characterized by lower limb weakness and nerve abnormalities including thickened nerves and fatty infiltration in muscles.
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Article Synopsis
  • Duchenne muscular dystrophy (DMD) is a serious genetic disorder caused by a lack of dystrophin, and the study explores the potential of givinostat, a histone deacetylase inhibitor, to improve outcomes for affected children.* -
  • Conducted as a phase 3, double-blind, placebo-controlled trial across 41 sites in 11 countries, researchers tested the safety and efficacy of givinostat in boys aged 6 and older who were already on corticosteroid treatment.* -
  • The primary goal was to assess the four-stair climb performance after 72 weeks of treatment, comparing changes between those given givinostat and the placebo, while monitoring safety throughout the study.*
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Incidence of amyotrophic lateral sclerosis in Chile.

Amyotroph Lateral Scler Frontotemporal Degener

August 2024

Academic Unit of Neurology, Clinical Medicine, Trinity College Dublin, Dublin, Ireland, and.

Objective: This study aimed to estimate amyotrophic lateral sclerosis (ALS) incidence and survival rates in the Metropolitan region of Chile.

Methods: We conducted a cohort study of ALS cases in the Metropolitan Region from 2016 to 2019. A total of 219 ALS patients were recruited from Corporación ELA-Chile registry, in collaboration with neurologists from Sociedad de Neurología, Psiquiatría y Neurocirugía de Chile.

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AccessPD as a next generation registry to accelerate Parkinson's disease research.

NPJ Parkinsons Dis

March 2024

Centre for Preventive Neurology, Wolfson Institute of Population Health, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.

Recruitment is a major rate-limiting factor in Parkinson's disease (PD) research. AccessPD is a unique platform that aims to create a registry of more than 2000 PD patients and a rich database of PD-relevant information. Potential participants are identified using electronic health records (EHRs) in primary care.

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Introduction: Spasticity is a common symptom in multiple sclerosis (MS) and it is often associated with other symptoms such as spasms/cramps and pain. The concept of Spasticity-Plus syndrome takes into account that spasticity is accompanied by one or more symptoms (spasms/cramps, pain, bladder dysfunction, sleep disorders, fatigue and/or tremor). As these symptoms share a common cannabinoid control, therapy acting on cannabinoid receptors may be useful.

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Unlabelled: Work and activity could be an important source of cognitive enrichment. Activities that are more challenging concerning the cognitive functions that are put into practice are associated with lower risk of cognitive decline in old age.

Objective: The present study aimed to assess the impact of occupational complexity and household tasks in three cognitive domains (verbal episodic memory, language, and executive functions) in older adults residing within the community.

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Subspace corrected relevance learning with application in neuroimaging.

Artif Intell Med

March 2024

Bernoulli Institute for Mathematics, Computer Science and Artificial Intelligence, University of Groningen, The Netherlands; SMQB, Inst. of Metabolism and Systems Research, College of Medical and Dental Sciences, Birmingham, United Kingdom. Electronic address:

In machine learning, data often comes from different sources, but combining them can introduce extraneous variation that affects both generalization and interpretability. For example, we investigate the classification of neurodegenerative diseases using FDG-PET data collected from multiple neuroimaging centers. However, data collected at different centers introduces unwanted variation due to differences in scanners, scanning protocols, and processing methods.

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Objective: To analyze the response to retreatment in patients with chronic/episodic migraine who discontinued therapy with erenumab/fremanezumab after 1 year of treatment.

Methods: Observational, retrospective, single-center, multidisciplinary study in patients with chronic/episodic migraine who received therapy with erenumab/fremanezumab for at least 1 year and discontinued it after achieving an adequate response (optimization). The evaluation of the response after retreatment included the following variables: DMM, MIDAS, and HIT-6 scales at the beginning of retreatment and 3 months later.

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Parkinsonism-hyperpyrexia syndrome (PHS) is a rare neurological emergency that shares clinical features with neuroleptic malignant syndrome. It is usually due to sudden deprivation of dopaminergic treatment, although there are cases related to failure of the deep brain stimulation system.

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Cholinergic degeneration is significant in Lewy body disease, including Parkinson's disease, dementia with Lewy bodies, and isolated REM sleep behaviour disorder. Extensive research has demonstrated cholinergic alterations in the CNS of these disorders. More recently, studies have revealed cholinergic denervation in organs that receive parasympathetic denervation.

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Article Synopsis
  • Primary intracranial pressure disorders, such as idiopathic intracranial hypertension and spontaneous intracranial hypotension, have seen significant advancements in diagnosis and treatment recently.
  • The Spanish Society of Neurology's Headache Study Group (GECSEN) created a consensus statement with diagnostic and therapeutic algorithms to enhance management in clinical settings.
  • This document is based on expert input and a systematic literature review, providing practical recommendations supported by levels of evidence and grades of recommendation.
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Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

Neurologia (Engl Ed)

March 2024

Servicio de Neurología, Hospital Universitari i Politécnic La Fe, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain; Universidad de Valencia, Valencia, Spain.

Introduction: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain.

Material And Methods: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.

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Background: Previous studies reported the negative impact of social isolation on mental health in people with dementia (PwD) and their caregivers, butlongitudinal studies seem scarcer.

Objective: To describe a one-year follow-up impact of the COVID-19 pandemic on PwD and their caregivers in both Brazil and Chile.

Methods: This study analyzed the impact of the pandemic on the psychological and physical health of PwD and their family caregivers after one year of follow-up in three outpatient clinics in Brazil (n = 68) and Chile (n = 61).

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An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response.

J Alzheimers Dis

March 2024

Departamento de Especialidades Quirúrgicas, Bioquímica e Inmunología, Facultad de Medicina, Universidad de Málaga, Málaga, Spain.

Article Synopsis
  • - Microglial dysfunction is linked to Alzheimer's disease (AD), with a focus on a variant affecting the SIRPβ1 receptor that regulates the clearance of amyloid-β (Aβ).
  • - The study found that a specific insertion in the SIRPβ1 gene alters protein function, increasing the risk of AD and affecting cognitive decline rates in patients with mild cognitive impairment.
  • - Results suggest that this SIRPβ1 variant could influence microglial responses to Aβ and may serve as a potential target for treatment strategies that involve the TREM2-TYROBP pathway.
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The NF-κB pathway is involved in the pathogenesis of neurological disorders that have inflammation as a hallmark, including Parkinson's disease (PD). Our objective was to determine whether common functional variants in the NFKB1, NFKBIA and NFKBIZ genes were associated with the risk of PD. A total of 532 Spanish PD cases (61% male; 38% early-onset, ≤ 55 years) and 300 population controls (50% ≤55 years) were genotyped for the NFKB1 rs28362491 and rs7667496, NFKBIA rs696, and NFKBIZ rs1398608 polymorphisms.

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Post-COVID-19 syndrome is a set of symptoms and signs that persist for more than 12 weeks after COVID-19 infection and currently lacks a standardised clinical definition. Only one case has been reported in which a pheochromocytoma was mistaken for post-COVID-19 syndrome. The symptomatology of this syndrome is variable and ranges from headache and fatigue to persistent dyspnoea and neurocognitive disturbances.

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Parkinson's disease (PD) is a progressive neurodegenerative disorder whose prevalence has steadily been rising over the years. Specialist neurologists across the world assess and diagnose patients with PD, although the diagnostic process is time-consuming and various symptoms take years to appear, which means that the diagnosis is prone to human error. The partial automatization of PD assessment and diagnosis through computational processes has therefore been considered for some time.

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Background: Fungal meningitis can be associated with epidural anesthesia procedures. Fusariosis is a rare infection typically affecting immunocompromised patients and rarely causes meningitis. During 2022-2023, public health officials responded to a large outbreak of meningitis associated with epidural anesthesia in Durango, Mexico.

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Electroacupuncture efficacy in diabetic polyneuropathy: Study protocol for a double-blinded randomized controlled multicenter clinical trial.

BMC Complement Med Ther

February 2024

Unidad de Investigación Médica en Bioquímica, Unidad Médica de Alta Especialidad "Dr. Bernardo Sepúlveda", Centro Médico Nacional Siglo XXI, IMSS, Mexico City, 06720, Mexico.

Background: Diabetic peripheral neuropathy (DPN) is the most common complication of type 2 diabetes mellitus (T2DM); its diagnosis and treatment are based on symptomatic improvement. However, as pharmacological therapy causes multiple adverse effects, the implementation of acupunctural techniques, such as electroacupuncture (EA) has been suggested as an alternative treatment. Nonetheless, there is a lack of scientific evidence, and its mechanisms are still unclear.

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