570,664 results match your criteria: "Department of Neurology; Hospital General de Ninos Ricardo Gutierrez[Affiliation]"

Objective: We sought to assess the impact of dietary risk on the worldwide burden of stroke, focusing specifically on ischemic stroke.

Methods: Utilizing information from the Global Burden of Disease Study 2021 (GBD2021), we evaluated the age-standardized death rate (ASDR), the age-standardized disability-adjusted life years (DALYs) rate, and the age, sex, and regional distribution of the estimated annual percentage change (EAPC) of the stroke burden linked to dietary risk from 1990 to 2021.

Results: The global overall ASDR and the age-standardized DALY rate per 100,000 population for stroke linked to dietary risk from 1990 to 2021 exhibited a declining trend [EAPC = -1.

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Global Perspectives on Returning Genetic Research Results in Parkinson Disease.

Neurol Genet

December 2024

From the Division of Neurology (A.H.T., S.-Y.L.), Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; Programa de Pós-Graduação em Ciências Médicas da Universidade Federal do Rio Grande do Sul (P.S.-A.), Clínica Santa María, Santiago, Chile; Departamento de Farmacologia (A.F.S.S.), Universidade Federal do Rio Grande do Sul; Serviço de Neurologia (A.F.S.S.), Hospital de Clínicas de Porto Alegre, Brazil; Institute of Neurogenetics (H.M., M.L.D., C.K.), University of Lübeck, Germany; Department of Biomedical Science (A.A.-A.), Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; The Michael J. Fox Foundation for Parkinson's Research (J.S., B.F.), New York; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neuroscience and Brain Health (M.L.D.), Metropolitan Medical Center, Manila, Philippines; Centre for Preventive Neurology (S.D., M.T.P., A.J.N.), Wolfson Institute of Population Health, Queen Mary University of London, United Kingdom; Unidad de Trastornos del Movimiento (M.T.P.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Laboratory of Neurogenetics (M.B.M.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Department of Clinical and Movement Neurosciences (M.B.M., H.R.M.), UCL Queen Square Institute of Neurology, University College London, United Kingdom; Department of Neurology (R.N.A.), Columbia University Irving Medical Center, New York; Movement Disorders Division (R.N.A.), Neurological Institute, Tel Aviv Sourasky Medical Center and Tel Aviv School of Medicine, Tel Aviv University, Israel; Molecular Medicine Laboratory and Neurology Department (K.R.K.), Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney; Translational Neurogenomics Group (K.R.K.), Genomic and Inherited Disease Program, Garvan Institute of Medical Research; and St Vincent's Healthcare Campus (K.R.K.), Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.

Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.

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Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.

Neurol Genet

December 2024

From the School of Medicine (A.R.T., J.R.), The University of Queensland; Department of Neurology (W.R., P.A.M., R.D.H., L.V.), Royal Brisbane & Women's Hospital; The University of Queensland (P.A.M., R.D.H., L.V.), UQ Centre for Clinical Research; and Genetic Health Queensland (J.R.), Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.

Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.

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-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Neurol Genet

December 2024

From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.

Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).

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Whipple's disease, caused by the gram-positive actinomycete , is a rare chronic systemic illness with significant diagnostic and therapeutic challenges, particularly when the CNS is involved. This case report details a 46-year-old man presenting with a constellation of symptoms including fatigue, hypersomnia, weight loss, bifrontal headaches, abdominal pain, treatment-unresponsive diarrhea, and skin hyperpigmentation. Neurological examination revealed oculomasticatory myorhythmia, and imaging studies showed nodular enhancement of the hypothalamus and basal ganglia, along with retroperitoneal lymphadenopathy.

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Adiponectin (ADN) regulates DNA synthesis, cell apoptosis and cell cycle to participate in the pathology and progression of glioblastoma. The present study aimed to further explore the effect of ADN on temozolomide (TMZ) resistance in glioblastoma and the underlying mechanism of action. Glioblastoma cell lines (U251 and U87-MG cells) were treated with ADN and TMZ at different concentrations; subsequently, 3.

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This study aimed to conduct a bibliometric analysis of the 100 most cited articles on experimental cardiac arrest models in rats, identifying key contributors, publication trends, research themes, and collaboration networks. A comprehensive literature search was performed on the Web of Science (WoS) database on June 11, 2024, using keywords related to cardiac arrest and rat models. The top 100 most cited articles were analyzed using the Biblioshiny web application from the Bibliometrix R package (version 4.

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Background: Gout is a type of inflammatory arthritis caused by monosodium urate crystal deposits, and the prevalence of this condition has been increasing. This study aimed to determine the combined effects of genetic risk factors and lifestyle habits on gout, using data from a Korean cohort study. Identifying high-risk individuals in advance can help prevent gout and its associated disorders.

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene. This review highlights the increasing recognition of intracerebral hemorrhage (ICH) as a significant manifestation of CADASIL, often predominantly characterized by ischemic strokes and vascular dementia. Recent studies indicate that the prevalence of ICH in CADASIL patients ranges from 0.

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Peripheral neurodegenerative diseases induced by irreversible peripheral nerve degeneration (PND), such as diabetic peripheral neuropathy, have a high prevalence worldwide and reduce the quality of life. However, there is no agent effective against the irreversible PND. After peripheral nerve injury, Schwann cells play an important role in regulating PND.

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This study examined the link between the Life's Essential 8 (LE8) metric and peripheral artery disease (PAD) prevalence in the U.S. This population-based prospective cohort study analyzed data from 6,076 participants aged 20 years and older from the National Health and Nutrition Examination Survey (NHANES) conducted between 1999 and 2004.

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Background: Racial/ethnic minoritized groups in the U.S. have higher prevalence of cardiometabolic multimorbidity and experience higher risk of dementia.

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How We Age: The Science of Longevity.

Cogn Behav Neurol

January 2025

Department of Neurology, Vanderbilt Medical Center North, Vanderbilt University, Nashville, Tennessee.

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Applying normative atlases in deep brain stimulation: a comprehensive review.

Int J Surg

December 2024

Department of Neurosurgery, Stanford University, Stanford, Palo Alto, California, USA.

Deep brain stimulation (DBS) has emerged as a crucial therapeutic strategy for various neurological and psychiatric disorders. Precise target localization is essential for optimizing therapeutic outcomes, necessitating advanced neuroimaging techniques. Normative atlases provide standardized references for accurate electrode placement, enhancing treatment customization and efficacy.

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Introduction: Deficits in decision-making (DM) can lead to adverse outcomes across multiple domains such as financial management and medical care. By hindering such DM abilities, cognitive impairment (CI) often affects quality of life. Routine screening for CI, however, does not include systematic and comprehensive assessment of DM ability.

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Objectives: To describe the impact of the COVID-19 pandemic on hypertension diagnosis and management in UK primary care.

Design: Population-based cohort study.

Setting: Over 2000 general practices across the UK contributing to the Clinical Practice Research Datalink.

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Objectives: Investigate the correlation between the percentage of predicted forced expiratory volume in 1 s (FEV1%pred) and survival outcomes, namely relapse-free survival (RFS) and overall survival (OS), in patients diagnosed with operable early-stage non-small cell lung cancer (NSCLC).

Design: Prospective observational study.

Setting: Clinical settings in Xiangya Hospital, Central South University, Hunan, China.

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Objective: To evaluate health-related quality of life (HRQoL), in relation to support from work, social, as well as treatment satisfaction, in women with multiple sclerosis (MS). Further, to predict the satisfaction on these support dimensions based on sociodemographic and clinical variables.

Design: Cross-sectional survey: a web-based questionnaire conducted in 2021 of people with MS (PwMS) linked to Nationwide Swedish registers.

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Introduction: Infants born very preterm (VPT, <32 weeks' gestation) are at increased risk for neurodevelopmental impairments including motor, cognitive and behavioural delay. Parents of infants born VPT also have poorer mental health outcomes compared with parents of infants born at term.We have developed an intervention programme called TEDI-Prem (Telehealth for Early Developmental Intervention in babies born very preterm) based on previous research.

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Article Synopsis
  • The introduction describes the growing issue of postoperative complications and how a new risk stratification tool, CARES-ML, aims to reduce these risks by identifying high-risk patients early.
  • The study design involves a randomized controlled trial with over 9,200 patients undergoing elective surgeries, comparing outcomes between those guided by the CARES tool and those who are not.
  • The ethics section ensures patient consent and language support, with the study approved by the relevant review board and funding from Singapore’s National Medical Research Council, leading to findings that will be shared in peer-reviewed journals.
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Introduction: Despite the implementation of mechanical thrombectomy, acute ischaemic stroke with large vessel occlusion (AIS-LVO) remains a significant health concern, characterised by substantial morbidity and mortality. Our trial aims to evaluate the efficacy and safety of minocycline in reducing infarct volume and improving functional outcomes in patients undergoing mechanical thrombectomy for anterior circulation AIS-LVO.

Methods And Analysis: The MIST-A trial is a prospective, randomised, open-label, blinded-endpoint trial to be conducted across 12 medical centres.

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Excitation-inhibition (E/I) imbalance is theorized as a key mechanism in the pathophysiology of epilepsy, with ample research focusing on elucidating its cellular manifestations. However, few studies investigate E/I imbalance at the macroscale, whole-brain level, and its microcircuit-level mechanisms and clinical significance remain incompletely understood. Here, the Hurst exponent, an index of the E/I ratio, is computed from resting-state fMRI time series, and microcircuit parameters are simulated using biophysical models.

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Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.

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Purpose: Especially in Europe, amino acid PET is increasingly integrated into multidisciplinary neuro-oncological tumor boards (MNTBs) to overcome diagnostic uncertainties such as treatment-related changes. We evaluated the accuracy of MNTB decisions that included the O-(2-[18F]-fluoroethyl)-L-tyrosine (FET) PET information compared with FET PET results alone to differentiate tumor relapse from treatment-related changes.

Patients And Methods: In a single academic center, we retrospectively evaluated 180 MNTB decisions of 151 patients with CNS WHO grade 3 or 4 gliomas (n = 122) or brain metastases (n = 29) presenting equivocal MRI findings following anticancer treatment.

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