1,424 results match your criteria: "National Institute of neurology[Affiliation]"

Background: A third of people with juvenile myoclonic epilepsy (JME) are drug-resistant. Three-quarters have a seizure relapse when attempting to withdraw anti-seizure medication (ASM) after achieving seizure-freedom. It is currently impossible to predict who is likely to become drug-resistant and safely withdraw treatment.

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Article Synopsis
  • Mucopolysaccharidosis (MPS) is a genetic disorder leading to glycosaminoglycan buildup, causing spinal issues such as myelopathy, especially in children, necessitating surgical intervention for spinal cord decompression and stabilization.* -
  • The study involved 21 pediatric patients who underwent decompression and occipito-C2 fusion using a cranial halo-cast system, with preoperative immobilization and follow-up using clinical assessments and imaging techniques to track recovery.* -
  • Results showed a significant improvement in patients' neurological scores post-surgery, despite one case of postoperative paraplegia, highlighting the effectiveness of a 2-stage surgical approach for addressing cranio-cervical junction anomalies.*
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The recently emerged novel coronavirus, "severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)," caused a highly contagious disease called coronavirus disease 2019 (COVID-19). It has severely damaged the world's most developed countries and has turned into a major threat for low- and middle-income countries. Since its emergence in late 2019, medical interventions have been substantial, and most countries relied on public health measures collectively known as nonpharmaceutical interventions (NPIs).

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Article Synopsis
  • The text discusses how initial understanding of COVID-19 focused on respiratory issues, but subsequent research revealed that the virus also affects the nervous system, causing neurological symptoms like myoclonus, seizures, and encephalitis.
  • It presents a case study of a 60-year-old man who developed unusual involuntary movements in his arms after receiving a COVID vaccine, which escalated to more severe symptoms, including an abnormal gait and slurred speech.
  • The patient's neurological examination showed distinct patterns of myoclonic jerks across different parts of his body, highlighting the complex neurological impacts of COVID-19.
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Background: The impact of pandemic has had worse effects in countries with already stretched healthcare resources. study's The study aimed to explore changes in epilepsy care delivery in resource-limited countries during and since the acute phase of the COVID-19 pandemic.

Method: A cross-sectional survey was conducted in 22 countries among healthcare providers (HCPs) caring for persons with epilepsy (PWE), in collaboration with newly formed global collaborators, the International Epilepsy Equity Group.

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G6PD::6PGL Fused Protein Inhibitors Decrease Trophozoite Viability: A New Alternative against Giardiasis.

Int J Mol Sci

November 2022

Laboratorio de Bioquímica Genética, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City 04530, Mexico.

Treatments to combat giardiasis have been reported to have several drawbacks, partly due to the drug resistance and toxicity of current antiparasitic agents. These constraints have prompted many researchers to investigate new drugs that act against protozoan parasites. Enzyme inhibition is an important means of regulating pathogen metabolism and has recently been identified as a significant alternative target in the search for new treatments.

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It has been almost a decade since the multinodular and vacuolating neuronal tumor (MVNT) was first described. In 2021, WHO classified it as a defined entity, and it is considered one of the glioneuronal and neuronal tumors. Due to its similarities with dysembryoplastic neuroepithelial tumors (DNET), some authors consider it a variant of these, ranking in the category of malformations, but genetic alterations favor a neoplastic origin.

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Background And Purpose: Juvenile-onset Huntington disease (JHD) is defined when symptoms initiate before 20 years of age. Mechanisms explaining differences between juvenile and adult onset are not fully understood. Our aim was to analyze the distribution of initial symptoms in a cohort of JHD patients and to explore its relationship with CAG expansion and relative telomere length (RTL).

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A 15-year-old girl presented with hyperactivity and behavior disorders. She had tachycardia and no goiter. Thyroid hormones were high and TSH normal.

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Background: The enrollment into clinical trials of persons at risk for autosomal dominant Alzheimer's disease (ADAD) in whom the onset of disease can be accurately predicted facilitates the interpretation of outcomes (e.g., biomarkers, treatment efficacy).

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Indoleamine dioxygenase (IDO), a rate limiting enzyme of the tryptophan catabolism through the kynurenine pathway (KP), has been related with a lower survival and a poor patient prognosis on several solid tumors, including gliomas. However, the use of IDO inhibitors as a therapeutic strategy for tumor treatment remains controversial in clinical trials and the role of other KP enzymes on tumor progression has remained poorly understood so far. Recently, different studies on different types of cancer have pointed out the importance of KP enzymes downstream IDO.

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Background: Telemedicine (TM) consultations have shown to be feasible for the management of neurological conditions including movement disorders. In contrast, satisfaction with such consultations have been less studied.

Objective: To assess the satisfaction of persons with a movement disorder with a TM consultation in comparison to previous experiences in face-to-face visits.

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Neuromyelitis optica spectrum disorders are characterized by severe demyelination and axonal damage with autoimmune mechanisms, predominantly targeting the optic nerves and the spinal cord. Patients often test positive for anti-AQP4 antibodies, while some have anti-MOG antibodies. Double seropositivity has been described, with a variable prevalence (0 to 26%) dependent on the testing method.

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Article Synopsis
  • A study aimed to explore how genetic diagnoses in epilepsy patients impact their clinical management and health outcomes, focusing on data from patients tested for genetic variants between 2016 and 2020.
  • The research included 418 patients, with a median age of 4 years, and found that nearly half (49.8%) experienced changes in clinical management due to genetic results, often within three months.
  • Common changes included starting new medications, referrals to specialists, and monitoring for other health issues related to the genetic findings.*
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Fatal Form of COVID-19 in a Young Male Bodybuilder Anabolic Steroid Using: The First Autopsied Case.

Medicina (Kaunas)

September 2022

Department of Head and Neck Surgery and Otorhinolaryngology, University Clinical Hospital of Railway Company, Iuliu Hatieganu University of Medicine and Pharmacy, 400015 Cluj-Napoca, Romania.

We report the case of a 34-year-old male patient, a bodybuilding trainer and user of anabolic androgenic steroids (AASs) for 16 years. He was found in cardio-respiratory arrest in his home. By performing a medico-legal autopsy, a severe form of COVID-19, aortic atherosclerotic plaques, and an old myocardial infarction was found.

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The presence of insoluble aggregates of amyloid β (Aβ) in the form of neuritic plaques (NPs) is one of the main features that define Alzheimer's disease. Studies have suggested that the accumulation of these peptides in the brain significantly contributes to extensive neuronal loss. Furthermore, the content and distribution of cholesterol in the membrane have been shown to have an important effect on the production and subsequent accumulation of Aβ peptides in the plasma membrane, contributing to dysfunction and neuronal death.

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The central theme of this article is the way in which psychiatry physicians-in-training deal with uncertainty in the discussion of clinical cases in Mexico. Methodologically, it is approached from the field of clinical ethnography and the narrative interpretation of plots in performative actions where there are sequences of communicative exchanges. In this way, it focuses on a detailed description of situations where clinical cases are reviewed to decipher, explain, and understand intersubjective meanings in the face of the emergence of uncertainty, its management, and the implications on decisions and actions.

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Background: It is known that renal artery aneurysms may lead to hydronephrosis, but utter shrinking of the renal parenchyma due to a giant renal artery aneurysm has not yet been reported. This report is of an 88-year-old woman with resistant hypertension, hydronephrosis, and renal atrophy due to a giant saccular aneurysm of the left renal artery.

Case Report: The patient presented with 2 weeks of worsening low back pain on the left side and resistant hypertension.

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Alpha-adrenergic receptor activation reinstates motor deficits in rats recovering from cortical injury.

Neural Regen Res

April 2023

Department of Pharmacology, Section of Postgraduate Studies and Research, High Medical School, Instituto Politécnico Nacional, Salvador Díaz Mirón, Alcaldía Miguel Hidalgo; Department of Special Education, University of the Americas, Puebla 223, Col. Roma, Alcaldía Cuauhtémoc, Mexico City, Mexico.

Norepinephrine plays an important role in motor functional recovery after a brain injury caused by ferrous chloride. Inhibition of norepinephrine release by clonidine is correlated with motor deficits after motor cortex injury. The aim of this study was to analyze the role of α-adrenergic receptors in the restoration of motor deficits in recovering rats after brain damage.

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Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.

Mol Cytogenet

October 2022

Laboratory of Human Cytogenetics, Department of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Tunisia.

Background: Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus callosum defects, and significant craniofacial dysmorphism.

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We set out to assess the diagnostic utility of the split hand index (SHI) for amyotrophic lateral sclerosis (ALS) and also to see if and how it can be applied to severely atrophied muscles, a frequent finding in this setting. We enrolled 38 patients from our clinic, 19 diagnosed with ALS and 19 controls, matched for age and sex. The SHI was calculated, on both sides, for all the patients.

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Background: The aim of the study was to describe the origin, course, and termination of frontal aslant tract (FAT) in the Mexican population of neurosurgical referral centers.

Methods: From January 2018 to May 2019, we analyzed 50 magnetic resonance imaging (MRI) studies in diffusion tensor imaging sequences of patients of the National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez." Five brains were fixed by the Klingler method and dissected in the neurosurgery laboratory of the Hospital Civil de Guadalajara to identify the origin, trajectory, and ending of the FAT.

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Background: Recent resting-state functional magnetic resonance imaging studies have reported abnormal functional connectivity (FC) in the prefrontal cortex (PFC)-striatum circuit in patients with premanifest Huntington's disease (HD). However, there is a lack of evidence showing persistence of abnormal frontostriatal FC and its relation to cognitive flexibility performance in patients with clinically manifest HD.

Objective: The aim of this study was to evaluate the resting-state FC integrity of the frontostriatal circuit and its relation to cognitive flexibility in HD patients and healthy controls (HCs).

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