1,412 results match your criteria: "National Institute of neurology[Affiliation]"

Article Synopsis
  • Wernicke-Korsakoff encephalopathy, a condition caused by vitamin B1 deficiency, often affects alcoholics and is characterized by memory issues, eye movement problems, and coordination difficulties.
  • A young male patient with a history of alcohol abuse presented with symptoms resembling a stroke, including right-sided weakness and language disturbances, complicating accurate diagnosis.
  • Following treatment with intravenous vitamin B1, the patient ultimately made a full recovery, highlighting how this condition can mimic stroke symptoms and posing challenges in emergency medical settings.
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Background: Multiple sclerosis (MS) is a demyelinating, neuroinflammatory, progressive disease that severely affects human health of young adults. Neuroinflammation (NI) and demyelination, as well as their interactions, are key therapeutic targets to halt or slow disease progression. Potent steroidal anti-inflammatory drugs such as methylprednisolone (MP) and remyelinating neurosteroids such as allopregnanolone (ALLO) could be co-administered intranasally to enhance their efficacy by providing direct access to the central nervous system (CNS).

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Purpose: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune reaction involving Immunoglobulin G antibodies against GluN1 subunit of NMDAR. Absence of biomarkers for early diagnosis and prognosis poses a challenge. Several small case-control studies have emphasized the prospect of quantitative EEG measurements.

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Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis stands as the most prevalent form of autoimmune encephalitis, primarily affecting young patients and exhibiting a higher incidence among females. Patients frequently present with psychiatric symptoms or cognitive impairments such as speech disturbances, decreased level of consciousness, autonomic dysfunction, as well as seizures, dyskinesias, and catatonia due to overactivation of extrasynaptic NMDA receptors. To date, there is no gold standard for the diagnosis of catatonia; however, a few rating scales exist to measure this phenomenon, with the Bush Francis Catatonia Rating Scale being the most commonly used due to its validity, reliability, and ease of application.

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Background: Castleman disease (CD) is a rare lymphoproliferative disorder, with intracranial involvement being exceedingly rare. Unicentric Castleman disease (UCD) is typically benign and localized, but its presentation can mimic other intracranial pathologies, complicating diagnosis.

Case Description: We reported a 52-year-old woman who presented with progressive headaches and language disturbances.

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: Superior cerebellar artery (SCA) aneurysms are exceedingly rare, posing unique diagnostic and management challenges due to their complex anatomical location within the posterior circulation. The proximity of the SCA to vital structures, such as the brainstem and cerebellum, along with the significant role of poorly controlled hypertension in aneurysm formation, further complicates treatment. This case aims to highlight the surgical approach and management strategies employed in treating a rare SCA aneurysm in a patient with longstanding hypertension.

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Neurodegenerative diseases, such as Alzheimer's, Parkinson's, ALS, and Huntington's, remain formidable challenges in medicine, with their relentless progression and limited therapeutic options. These diseases arise from a web of molecular disturbances-misfolded proteins, chronic neuroinflammation, mitochondrial dysfunction, and genetic mutations-that slowly dismantle neuronal integrity. Yet, recent scientific breakthroughs are opening new paths to intervene in these once-intractable conditions.

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy that affects approximately 500 million people worldwide. A great number of mutations in the gene have been described. However, three class A G6PD variants known as G6PD Tomah (C385R), G6PD Kangnam (C385G), and G6PD Madrid (C385W) have been reported to be clinically important due to their associations with severe clinical manifestations such as hemolytic anemia.

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Cisplatin (CIS) is a potent chemotherapeutic agent primarily used to treat hematologic malignancies and solid tumors, including lymphomas, sarcomas, and some carcinomas. Patients receiving this treatment for tumors outside the nervous system develop cognitive impairment. Alterations in the kynurenine pathway (KP) following CIS treatment suggest that certain KP metabolites may cross the blood-brain barrier, leading to increased production of the neuromodulator kynurenic acid (KYNA), which is associated with cognitive impairment.

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Arteriovenous malformations (AVMs) are complex vascular anomalies that can present with significant complications, including intracranial hemorrhage. This report presents the case of a 36-year-old female with Prothrombin G20210A mutation-associated thrombophilia, highlighting its potential impact on AVM pathophysiology and management. The patient presented with a right paramedian intraparenchymal frontal hematoma, left hemiparesis, and seizures.

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Article Synopsis
  • Hereditary myopathies involve several hundred genetic variants, with Limb-girdle muscular dystrophies (LGMDs) being a diverse group of disorders linked to more than 30 genes, characterized primarily by limb weakness.
  • The study analyzed 2,372 patients across 21 countries to assess the prevalence of LGMD and Pompe disease through next-generation sequencing (NGS), finding that 11% had pathogenic genetic variants, with a high diagnostic effectiveness for LGMD (86.2%).
  • The findings emphasize the importance of including specific genes in NGS panels for diagnosing LGMW, contributing to a better understanding of LGMD and aiding in the identification of late-onset Pompe disease.
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Racial and ethnic minorities have been disproportionally burdened by hospitalization and death due to COVID-19. Participation of individuals of diverse races and ethnicities in clinical trials according to study-level characteristics of randomized controlled trials (RCT) that test effectiveness of COVID-19 drugs could be insightful for future researchers. The objective of this scoping review was to describe frequency of race and ethnicity reported as demographic variables and specific reporting of race and ethnicity according to COVID-19 RCT characteristics.

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Background: Bow Hunter's syndrome (BHS) is a rare entity known as rotational vertebral artery occlusion syndrome. Classically, it presents with nausea, vertigo, and dizziness elicited by extension or rotation of the neck. There are several management approach modalities, including surgical and nonsurgical alternatives.

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Extent of Resection for Supratentorial Gliomas Using the B-mode Ultrasound as an Intraoperative Aid.

Cureus

November 2024

Neuro-Oncology, Fundación Centro de Tratamiento e Investigación Sobre Cáncer Luis Carlos Sarmiento Angulo (CTIC), Bogotá, COL.

Background: The cornerstone of glioma treatment is the surgical resection of the visible tumor, knowing fully that the disease extends beyond what magnetic resonance imaging (MRI) is able to show and the efficacy of the surgery is highly dependent on the surgeon's expertise. Different intraoperative technologies have emerged to aid in the goal of optimizing the extent of resection for glial tumors. Intraoperative ultrasound (iUS) is an attractive option due to its low cost and real-time imaging.

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Article Synopsis
  • * Conducted at an epilepsy clinic, the survey involved patients aged 17 to 65 and assessed their physical activity levels and perceived quality of life using specific questionnaires.
  • * Results showed that physically active participants reported significantly better quality of life scores compared to sedentary ones, highlighting the positive effects of exercise on overall well-being in this population.
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Article Synopsis
  • - The emergence of neuropsychiatric symptoms in middle-aged individuals poses diagnostic challenges, making it tough to distinguish between primary psychiatric disorders and early neurodegenerative diseases, especially when brain imaging shows no clear abnormalities.
  • - A case study of a 59-year-old woman showed initial symptoms similar to a mood disorder and behavioral frontotemporal dementia, but autopsy revealed a mix of Lewy body disease and tau-related changes.
  • - This case highlights the complexities of diagnosing late-onset neuropsychiatric symptoms, underlines their connection to dementia, and stresses the importance of accurate diagnosis for developing targeted therapies and improving clinical trial participation.
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Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses.

Aging (Albany NY)

November 2024

Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, Tunis 1002, Tunisia.

Cockayne syndrome (CS) is a segmental progeroid syndrome characterized by defects in the DNA excision repair pathway, predisposing to neurodegenerative manifestations. It is a rare genetic disorder and an interesting model for studying premature aging. Oxidative stress and autophagy play an important role in the aging process.

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The PROtein-enriched MEDiterranean diet to combat undernutrition and promote healthy neuroCOGnitive ageing in older adults (PROMED-COG) is a European project that investigates the role of nutritional status on neurocognitive ageing. This methodological paper describes the harmonization process of dietary data from four Italian observational studies (Pro.V.

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Pericallosal artery aneurysms are rare, accounting for 2-9% of all intracranial aneurysms, and mirror aneurysms in this location are exceptionally uncommon, presenting unique surgical challenges due to their deep location and proximity to critical neurovascular structures. The aim of this case report is to describe the surgical management and successful outcome of a patient with mirror pericallosal artery aneurysms and to contribute insights into the clinical and surgical considerations for this rare condition. We report the case of a 71-year-old female with multiple cardiovascular and metabolic conditions, including hypertension and smoking-well-established risk factors for intracranial aneurysm formation and rupture.

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Intracranial aneurysms, characterized by abnormal dilations of cerebral arteries, pose significant health risks due to their potential to rupture, leading to subarachnoid hemorrhage with high mortality and morbidity rates. This paper aim is to explore the innovative application of nanoparticles in treating intracranial aneurysms, offering a promising avenue for enhancing current therapeutic strategies. We took into consideration the pathophysiology of cerebral aneurysms, focusing on the role of hemodynamic stress, endothelial dysfunction, and inflammation in their development and progression.

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Background: Intracranial AVMs are a highly heterogeneous group of lesions that, while not very common, can pose significant risks. The therapeutic management of AVMs is complicated by ambiguous guidelines, particularly regarding which Spetzler-Martin grades should dictate specific treatment options. This study analyzed the clinical presentations and treatment approaches of 128 brain AVM cases managed between 2014 and 2022 at the National Institute of Neurology and Neurovascular Diseases in Bucharest, Romania.

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Article Synopsis
  • * Surgical intervention involved near-total tumor resection, and histological analysis confirmed the diagnosis of anaplastic meningioma (WHO Grade III) with severe features such as necrosis and brain invasion.
  • * Post-surgery, the patient showed marked improvement in neurological functions, suggesting that surgical removal can potentially reverse deficits associated with Gerstmann syndrome, with no recurrence reported in a two-month follow-up.
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Cadmium (Cd) is a toxic heavy metal widely distributed in foodstuffs. In Mexico, few studies have evaluated Cd content in foods. This study aimed to determine Cd concentrations in foodstuffs that are highly consumed and bought in Mexico City to identify foods exceeding the Maximum Level (ML) and to assess the health risks of theoretical Cd intake from a diet following the Mexican Dietary Guidelines.

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Background: Nanocarriers have been proposed as a solution for drug-resistant epilepsy.

Methods: A systematic review of animal and in vitro studies was conducted to evaluate the efficacy, toxicity, and biological properties of nanocarriers. Searches were performed in PubMed/Medline and Scopus from March 2023 to March 2024.

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