Your browser doesn't support javascript.
loading
Montrer: 20 | 50 | 100
Résultats 1 - 20 de 694
Filtrer
1.
J Hist Neurosci ; : 1-15, 2024 Jul 01.
Article de Anglais | MEDLINE | ID: mdl-38949401

RÉSUMÉ

The establishment of neurology schools in Latin America during the late-nineteenth and early-twentieth centuries profoundly influenced the French neurology school. In the latter half of the nineteenth century, the neurology department at the Salpêtrière Hospital in Paris held a preeminent position as the global hub of neurology. Professor Jean-Martin Charcot, widely acclaimed as the father of modern neurology, was the most revered neurology professor of the nineteenth century. Many physicians from diverse countries across South America (notably Argentina, Uruguay, Peru, Brazil, and Colombia), the Caribbean (Cuba), and Mexico pursued specialized training in neurology under Charcot's tutelage, and even after his passing in 1893, they continued their training with his numerous disciples. As a result, nearly two centuries after the birth of Charcot, his enduring contributions to the field of neurology remain vibrantly influential, particularly in Latin America.

2.
Nutr Neurosci ; : 1-10, 2024 Jun 07.
Article de Anglais | MEDLINE | ID: mdl-38848348

RÉSUMÉ

INTRODUCTION: Malnutrition risk (MR) in older adults with neurological disorders is high, but there is little evidence for validated screening tools in this group, as well as for the clinical and socioeconomic factors associated with a high MR. OBJECTIVES: To determine the association of MR using the Malnutrition Universal Screening Tool (MUST) with mortality and length of stay (LOS) in older adults with neurological diseases. Secondarily, the association of clinical, and socioeconomic factors with MR and clinical outcomes was sought. METHODS: A retrospective cohort study was carried out at a third-level neurological disease referral center in Mexico. All patients older than 60 years admitted from January 2017 to December 2018 were considered. MUST, clinical and socioeconomic factors were assessed at hospital admission. Outcomes were followed up to hospital discharge or a maximum of 6 months. RESULTS: A total of 765 patients were included, of whom 24.7% (n = 189) were at high risk. A high MR was independently associated with mortality (OR 3.09; 95% CI 1.60-5.98, p = .001) and LOS >14 days (OR 4.38; 95% CI 2.79-6.89, p = <.001). The only factors independently associated with high MR was economic dependence and unemployment. Patients with high MR and economic dependence (OR 4.0; 95% CI 1.34-11.99, p = .013) or unemployment (OR 3.43; 95% CI 1.17-10.06, p = .025) had the highest mortality. CONCLUSIONS: In hospitalized older adults with neurological diseases, high MR is independently associated with increased mortality and LOS. Economic dependence or unemployment are associated with worse clinical outcomes in patients with high MR.

3.
J Am Acad Psychiatry Law ; 52(2): 149-152, 2024 Jun 04.
Article de Anglais | MEDLINE | ID: mdl-38834366

RÉSUMÉ

There is a clear need for experts with the requisite knowledge and experience to offer medicolegal opinions pertaining to various neuropsychiatric conditions. There is also an important distinction between clinical and medicolegal roles, and the need for training and expertise applicable to forensic assessment. But there remain few available experts with credentials spanning neuropsychiatry and forensic assessment. This creates a dilemma whereby parties involved in litigation featuring neuropsychiatric illness or injury are frequently forced to choose between experts with either knowledge and skills applicable to neuropsychiatric conditions or experts with skills and experience applicable to forensic assessment. Either choice introduces risk. Whether flawed medicolegal opinions are a consequence of deficient medical knowledge or an inadequate forensic evaluation process, the result remains the same, with triers of fact potentially being exposed to problematic testimony. There is, however, a more fundamental problem that implicates patient care more broadly: spurious dichotomies created by the historical segregation of psychiatry and neurology. Optimizing clinical care for patients with neuropsychiatric conditions, improving medical education in support of such care, and enabling forensic neuropsychiatric assessment must then start with more proactive efforts to reintegrate psychiatry and neurology.


Sujet(s)
Expertise , Neurologues , Humains , Neurologues/législation et jurisprudence , Expertise/législation et jurisprudence , Psychiatrie légale , Neurologie , Rôle médical , Médecine légale , Troubles mentaux/diagnostic
4.
Neurol Sci ; 2024 Jun 17.
Article de Anglais | MEDLINE | ID: mdl-38880854

RÉSUMÉ

Hemodynamic management, specifically blood pressure, is essential to reduce mortality and preserve functional capacity. However, the literature is uncertain about the best blood pressure target to be adopted after performing mechanical thrombectomy in patients with acute ischemic stroke. Randomized clinical trials that compared blood pressure goals after mechanical thrombectomy were searched in the following databases: MEDLINE/PubMed, Embase, Scopus, Biomedcentral, and Cochrane Library. The last search was on September 19, 2023. The results obtained were used to construct network meta-analyses. A total of 1556 participants were enrolled from 4 randomized controlled trials (OPTIMAL-BP, ENCHANTED2/MT, BP-TARGET, BEST-II). The last article was not included in the network meta-analysis because it did not have common blood pressure targets. The outcomes compared were: mRS (modified Rankin scale), eTICI/mTICI scale scores, symptomatic and any intracerebral hemorrhage, post-intervention NIHSS, and post-intervention infarct volume. The outcomes using the mRS scale showed that better outcomes were reached with less intensive blood pressure targets when comparing < 120 mmHg vs. ≤ 180 mmHg, OR: 0.71 (95% CI 0.54 - 0.94), in the outcome of mRS 0-1. And for the mRS 0-2 outcome with comparisons < 120 mmHg vs. ≤ 180 mmHg, with OR: 0.59 (95% CI 0.44 - 0.77) and < 140 mmHg vs. ≤ 180 mmHg, with OR: 0.61 (95% CI 0.41 - 0.89). In patients with large vessel occlusion treated with mechanical thrombectomy and who achieved good reperfusion, intensive blood pressure lowering is not effective and might be harmful respect to non intensive blood pressure control in recanalized patients.

5.
Cerebrovasc Dis ; : 1-8, 2024 May 29.
Article de Anglais | MEDLINE | ID: mdl-38810614

RÉSUMÉ

BACKGROUND: Professor Fisher's legacy, defined by meticulous observation, curiosity, and profound knowledge, has established a foundational cornerstone in medical practice. However, the advent of automated algorithms and artificial intelligence (AI) in medicine raises questions about the applicability of Fisher's principles in this era. Our objective was to propose adaptations to these enduring rules, addressing the challenges and leveraging the opportunities presented by digital health. SUMMARY: The adapted rules we propose advocate for the harmonious integration of traditional bedside manners with contemporary technological advancements. The judicious use of advanced devices for patient examination, recording, and sharing, while upholding patient confidentiality, is pivotal in modern practice and academic research. Additionally, the strategic employment of AI tools at the bedside, to aid in diagnosis and hypothesis generation, underscores their role as valued complements to clinical reasoning. These adapted rules emphasize the importance of continual learning from experience, literature, and colleagues, and stress the necessity for a critical approach toward AI-derived information, which further consolidates clinical skills. These aspects underscore the perpetual relevance of Professor Fisher's rules, advocating not for their replacement but for their evolution. Thus, a balanced methodology that adeptly utilizes the strengths of AI and digital tools, while steadfastly maintaining the core humanistic values, arises as essential in the modern practice of medicine. KEY MESSAGES: A commitment between traditional medical wisdom and modern technological capabilities may enhance medical practice and patient care. This represents the future of medicine - a resolute commitment to progress and technology, while preserving the essence of medical humanities.

6.
J Pediatr ; 272: 114089, 2024 Sep.
Article de Anglais | MEDLINE | ID: mdl-38734133

RÉSUMÉ

OBJECTIVE: To assess cognitive, behavioral, and adaptive functions in children and young adults with hemophilia treated according to contemporary standards of care. STUDY DESIGN: Evolving Treatment of Hemophilia's Impact on Neurodevelopment, Intelligence, and Other Cognitive Functions (eTHINK) is a US-based, prospective, cross-sectional, observational study (September 2018 through October 2019). Males (aged 1-21 years) with hemophilia A or B of any severity, with or without inhibitors, were eligible. Participants underwent neurologic examinations and age-appropriate neuropsychological assessments, including standardized tests/ratings scales of early development, cognition, emotional/behavioral adjustment, and adaptive skills. RESULTS: Five hundred and fifty-one males with hemophilia A (n = 433) or B (n = 101) were enrolled. Performance on cognitive tests was largely comparable with that of age-matched US population norms, although participants in certain age groups (4-5 and 10-21 years) performed worse on measures of attention and processing speed. Furthermore, adolescents and young adults and those with comorbid attention-deficit/hyperactivity disorder (ADHD; n = 64) reported more adaptive and executive function problems in daily life. Incidence of ADHD in adolescents (21%) was higher than expected in the general population. CONCLUSIONS: In general, males with hemophilia demonstrated age-appropriate intellectual, behavioral, and adaptive development. However, specific patient/age groups showed poorer attention performance and concerns for executive and adaptive development. This study established a normative data set for monitoring neurodevelopment in individuals with hemophilia and highlight the importance of screening and intervention for challenges with cognitive and adaptive skills in this population. CLINICAL TRIAL REGISTRATION: Evolving Treatment of Hemophilia's Impact on Neurodevelopment, Intelligence, and Other Cognitive Functions (eTHINK); NCT03660774; https://clinicaltrials.gov/ct2/show/NCT03660774.


Sujet(s)
Hémophilie A , Humains , Hémophilie A/complications , Mâle , Adolescent , Enfant , Études transversales , Études prospectives , Jeune adulte , Enfant d'âge préscolaire , Nourrisson , Cognition , Tests neuropsychologiques , Hémophilie B/complications , Trouble déficitaire de l'attention avec hyperactivité , Fonction exécutive , Adaptation psychologique
7.
J Am Vet Med Assoc ; 262(9): 1215-1221, 2024 Sep 01.
Article de Anglais | MEDLINE | ID: mdl-38810659

RÉSUMÉ

OBJECTIVE: To determine reasons for horses to have neck radiographs performed, the incidence of transposition of the ventral lamina of C6 onto C7 (TC67), and the final diagnoses for all horses. Our hypotheses were to find a similar incidence of TC67, as has been previously reported, and an increased incidence of neck pain and dysfunction in horses with TC67. ANIMALS: 135 horses. METHODS: Retrospective observational study. Medical records of 135 horses with cervical vertebral column radiographs between 2020 and 2022 were assessed. Patient signalment, reasons for radiographs, radiographic findings, and diagnoses were analyzed. The Shapiro-Wilk test was used for normality determination. Nonparametric tests were used to analyze data. RESULTS: 20% of horses were diagnosed with TC67. Significantly more horses with TC67 were warmblood horses (63%); TC67 was found in 28% of warmblood horses. There was no significant difference in signalment or whether horses were in work between the groups, although significantly more horses with TC67 performed in English disciplines (71%). No differences in reasons for examination or final diagnoses of neurologic disease, cervical orthopedic disease, or lameness were present between groups. In horses with neck pain, TC67 was significantly more common (31%) than in horses without (18%). CLINICAL RELEVANCE: Our results indicated that TC67 occurs more in warmblood horses. In the small group of horses with neck pain reported, TC67 was more commonly seen than in those without. Given the complexity of this region and the paucity of studies exploring neck pain and neck biomechanics, we suggest the need for standardized prospective studies.


Sujet(s)
Vertèbres cervicales , Maladies des chevaux , Cervicalgie , Animaux , Equus caballus , Cervicalgie/médecine vétérinaire , Études rétrospectives , Mâle , Femelle , Radiographie/médecine vétérinaire , Maladies du système nerveux/médecine vétérinaire
8.
Eur Neurol ; 87(3): 140-146, 2024.
Article de Anglais | MEDLINE | ID: mdl-38705142

RÉSUMÉ

BACKGROUND: Charles Foix (1882-1927) may be mostly remembered today due to his contributions to vascular neurology and the syndromes that bear his name, such as the Foix-Alajouanine syndrome. However, he also developed a literary career and composed poetry and a vast collection of plays, often dealing with biblical themes or figures from Greek mythology. SUMMARY: His poetry was often inspired by his own experiences during the First World War, in which he was assigned to serve as a medical officer in Greece, becoming enamored with his surroundings and the classical lore. KEY MESSAGES: The authors explore Foix's poetry and drama and their relationship to his overall work as a neurologist, including his wartime experiences.


Sujet(s)
Neurologues , Neurologie , Poésie comme sujet , Histoire du 20ème siècle , Humains , Histoire du 19ème siècle , Neurologie/histoire , Poésie comme sujet/histoire , Neurologues/histoire
9.
Rev. Bras. Neurol. (Online) ; 60(1): 11-15, jan.-mar. 2024. ilus
Article de Anglais | LILACS-Express | LILACS | ID: biblio-1555086

RÉSUMÉ

Rapid changes in medical education are being fueled by advancements in science, technology, and societal structures. However, the traditional medical curriculum often struggles to keep pace with the evolving demands of medical practice in light of these advancements. Neurology presents distinctive challenges in modern medicine, requiring innovative solutions to improve patient care and support the well-being of healthcare providers. This essay delves into the intricate issues encountered by neurologists, such as the diminishing interpersonal connections in the medical field and the prevalent issue of burnout among professionals, exacerbated by outdated educational programs. This research advocates for a comprehensive approach to enhancing neurology practice through the perspectives of Medical Humanities (MH) and neurobiology, within the evolving realm of Neurohumanities. By integrating stateof-the-art neurobiological findings, MH/Neurohumanities, and a focus on empathy, the article proposes practical strategies to rejuvenate clinical practice and bolster the resilience of neurology practitioners. Furthermore, it underscores the untapped potential of artificial intelligence and machine learning while examining how the digital ecosystem could revolutionize neurology medical education. Grounded in evidence-based research and practical insights, this article offers valuable guidance for navigating the complexities of contemporary neurology practice and cultivating a workforce of healthcare professionals who possess both technological acumen and compassion.


Mudanças rápidas na educação médica estão sendo impulsionadas pelos avanços na ciência, tecnologia e estruturas sociais. No entanto, o currículo médico tradicional frequentemente luta para acompanhar as exigências em constante evolução da prática médica diante desses avanços. A neurologia apresenta desafios distintos na medicina moderna, exigindo soluções inovadoras para melhorar o cuidado ao paciente e apoiar o bemestar dos profissionais de saúde. Este ensaio explora as questões complexas enfrentadas pelos neurologistas, como a diminuição das conexões interpessoais no campo médico e o problema prevalente do esgotamento entre os profissionais, exacerbado por programas educacionais desatualizados. Esta pesquisa defende uma abordagem abrangente para aprimorar a prática da neurologia por meio das perspectivas das Humanidades Médicas (HM) e da neurobiologia, dentro do campo em evolução das Neuro- Humanidades. Ao integrar descobertas neurobiológicas de ponta, HM/Neuro-Humanidades e um foco na empatia, o artigo propõe estratégias práticas para rejuvenescer a prática clínica e fortalecer a resiliência dos profissionais de neurologia. Além disso, destaca o potencial inexplorado da inteligência artificial e da aprendizagem de máquina ao examinar como o ecossistema digital poderia revolucionar a educação médica em neurologia. Fundamentado em pesquisas baseadas em evidências e insights práticos, este artigo oferece orientações valiosas para navegar pelas complexidades da prática contemporânea da neurologia e cultivar uma força de trabalho de profissionais de saúde que possuam tanto acuidade tecnológica quanto compaixão.

10.
Rev. Bras. Neurol. (Online) ; 60(1): 23-28, jan.-mar. 2024. fig
Article de Anglais | LILACS-Express | LILACS | ID: biblio-1555101

RÉSUMÉ

The trajectory of healthcare has evolved from ancient holistic practices to the present biomedical model, reflecting the dynamic interplay between scientific progress, technological advancements, and the integration of humanistic values. While biomedical advancements have revolutionized medical treatments, there is an emerging recognition of the importance of integrating neuroscience and humanities to foster holistic patient care and understanding. This paper aims to explore the historical development of medicine, emphasizing the convergence of neuroscience, psychiatry, and neurology within the biomedical framework. Additionally, it investigates the resurgence of humanities in healthcare and its role in promoting patientcentered care. Through a comprehensive review of literature, this study traces the historical roots of medicine and examines the interdisciplinary intersections of neuroscience, psychiatry, neurology, and medical humanities. The exploration reveals the significant contributions of interdisciplinary approaches in enhancing patient-centered care, fostering a comprehensive understanding of health and well-being, and shaping modern healthcare practices. The integration of neuroscience and humanities offers valuable insights into the complexities of human health, bridging legacy practices with innovative approaches. Embracing this interdisciplinary perspective is crucial for promoting holistic healthcare, emphasizing patient-centered care, and enriching the understanding of health and well-being in contemporary healthcare settings.


A trajetória dos cuidados de saúde evoluiu das antigas práticas holísticas para o atual modelo biomédico, reflectindo a interação dinâmica entre o progresso científico, os avanços tecnológicos e a integração de valores humanísticos. Embora os avanços biomédicos tenham revolucionado os tratamentos médicos, há um reconhecimento emergente da importância de integrar as neurociências e as humanidades para promover a compreensão e os cuidados holísticos dos doentes. Este artigo tem como objetivo explorar o desenvolvimento histórico da medicina, salientando a convergência da neurociência, da psiquiatria e da neurologia no quadro biomédico. Além disso, investiga o ressurgimento das humanidades nos cuidados de saúde e o seu papel na promoção de cuidados centrados no doente. Através de uma revisão exaustiva da literatura, este estudo traça as raízes históricas da medicina e examina as intersecções interdisciplinares da neurociência, psiquiatria, neurologia e humanidades médicas. A exploração revela os contributos significativos das abordagens interdisciplinares para melhorar os cuidados centrados no doente, promover uma compreensão abrangente da saúde e do bem-estar e moldar as práticas modernas de cuidados de saúde. A integração das neurociências e das humanidades oferece conhecimentos valiosos sobre as complexidades da saúde humana, fazendo a ponte entre práticas antigas e abordagens inovadoras. A adoção desta perspetiva interdisciplinar é crucial para promover cuidados de saúde holísticos, enfatizando os cuidados centrados no doente e enriquecendo a compreensão da saúde e do bem-estar nos contextos de cuidados de saúde contemporâneos.

11.
J Neurovirol ; 2024 Apr 23.
Article de Anglais | MEDLINE | ID: mdl-38653958

RÉSUMÉ

Human T-lymphotropic virus type 1 (HTLV-1) is classically associated with the HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), although the mechanisms of this neurological disorder remain unclear. In addition, some patients who develop "minor" neurological signs that do not meet diagnostic criteria for HAM/TSP are classified as asymptomatic carriers. This study aims to demonstrate the neurological symptoms of Brazilian patients living with HTLV-1 classified as not-HAM.TSP. This observational study evaluated patients treated in an HTLV reference center in Bahia, Brazil, between February 2022 and July 2023. The data were obtained through the analysis of medical records and neurological consultation. Those individuals classified as HAM/ TSP were excluded from this study. 74 patients were submitted to a careful neurological evaluation: 23 HAM/TSP, 22 were classified with intermediate syndrome (IS), and 29 were oligosymptomatic. Self-reported symptoms were significantly more common in the IS group, including urinary symptoms such as nocturia, urgency, incontinence, dysuria, weakness, paresthesia, lumbar pain, xerostomia, and xerophthalmia. Physical examination findings consistent with reduced vibratory and tactile sensitivity were more common in the IS group (p = 0.017 and p = 0.013). Alterations in the V and VIII cranial nerves were present in both groups. HTLV-1 can lead to the development of important neurological signs and symptoms in apparently asymptomatic individuals. This data highlights the need for more research into the neurological aspects of HTLV-1 infection and emphasizes the importance of early diagnosis, treatment, and support for individuals living with this virus.

12.
Pract Neurol ; 24(5): 417-421, 2024 Sep 13.
Article de Anglais | MEDLINE | ID: mdl-38653547

RÉSUMÉ

Chagas' disease reactivation leading to monophasic acute or subacute meningoencephalitis or space-occupying lesions is a well-described AIDS-defining condition in Latin America. We report a 59-year-old man native from the Northeast region of Brazil, with a second episode of subacute chagasic meningomyelitis. He had long-term multidrug-resistant HIV and had abandoned combined antiretroviral therapy (CD4+ lymphocyte count, 16 cells/mm³, and HIV viral load 169 403 copies/mL). He initially received benznidazole but switched to nifurtimox after developing myelotoxicity. He was discharged home having made a partial neurological improvement. Chagas' disease should be included in the differential diagnosis of meningomyelitis in people living with HIV/AIDS who are from endemic areas of this parasitic disease.


Sujet(s)
Maladie de Chagas , Infections à VIH , Humains , Mâle , Adulte d'âge moyen , Infections à VIH/complications , Infections à VIH/traitement médicamenteux , Maladie de Chagas/complications , Maladie de Chagas/diagnostic , Récidive
14.
BMJ Open ; 14(3): e071872, 2024 Mar 25.
Article de Anglais | MEDLINE | ID: mdl-38531571

RÉSUMÉ

INTRODUCTION: Neurodegenerative diseases affect the nervous system and are characterised by the deterioration and/or death of neurons. Nutrition care is essential for maintaining an adequate nutritional status, which influences the prognosis and survival of patients with neurological diseases. Caregivers participate assiduously in the care of these patients and must be integrated into the multidisciplinary team. They often need specific training or knowledge regarding food and nutrition to perform their roles with patients. Health educommunication is a learning tool that can positively influence the appropriation of the theme and the construction of care autonomy. This scoping review (ScR) will map educommunication actions/strategies in nutrition and neurodegenerative diseases. METHODS AND ANALYSIS: This ScR will be designed based on the methodology of Arksey and O'Malley and will follow the methodological guidance for conducting a Joanna Briggs Institute ScR. The research question addressed by the scoping review will be: what actions/strategies for educommunication in nutrition and neurodegenerative diseases have been developed for patients or caregivers? Many search sites it will be used in this review, such as electronic databases (Embase, PubMed/MEDLINE, Scopus, Web of Science), Google Scholar and grey literature sources. No restrictions of date or language will be applied to the search strategy. Two reviewers will independently screen all abstracts and full-text studies for inclusion. Data, including the study design, objective, study population, neurodegenerative diseases, nutrition topics and educommunication strategies will be logically organised and tabulated in Microsoft Excel. ETHICS AND DISSEMINATION: The data used for this review are from secondary sources and available to the public; thus, no ethical approval and human consent will be required for this study. Dissemination of the results will be published in a peer-reviewed journal and presented at conferences.


Sujet(s)
Maladies neurodégénératives , Humains , État nutritionnel , Aliments , Académies et instituts , Bases de données factuelles , Plan de recherche , Littérature de revue comme sujet
15.
BMJ Case Rep ; 17(1)2024 Jan 03.
Article de Anglais | MEDLINE | ID: mdl-38171637

RÉSUMÉ

BACKGROUND: Osmotic demyelination syndrome (ODS) with cerebral cortical involvement is a rare complication of severe hyponatremia correction. Careful management of hyponatremia is crucial, particularly in patients with risk factors, such as alcohol use disorder and diabetes insipidus. CASE: A patient in his 40s with a history of alcohol use disorder and central diabetes insipidus developed ODS after a 24 mEq/L osmolar increase during the treatment of hyponatremia. The patient's condition progressed into locked-in syndrome and then improved to spastic tetraparesis after cortical basal ganglia ODS improved. DISCUSSION: The differential diagnosis of cortical demyelination includes laminar cortical necrosis, being the interpretation of Apparent Diffusion Coefficient (ADC) MRI sequence is a useful tool.This case underscores the need to investigate and improve diagnosis and treatment strategies in patients with ODS. It also emphasises the significance of careful hyponatremia correction and frequent monitoring, particularly in patients with known risk factors for ODS.


Sujet(s)
Alcoolisme , Maladies démyélinisantes , Diabète insipide central , Diabète , Hyponatrémie , Humains , Hyponatrémie/diagnostic , Diabète insipide central/complications , Diabète insipide central/diagnostic , Alcoolisme/complications , Maladies démyélinisantes/complications , Maladies démyélinisantes/imagerie diagnostique , Facteurs de risque
16.
Postgrad Med J ; 100(1187): 699-700, 2024 Aug 16.
Article de Anglais | MEDLINE | ID: mdl-38244551

RÉSUMÉ

Many emotions are generated within a medical consultation. These feelings are often shared among the doctor, patient, and family. In this piece, these emotions are explored as I describe them deeply during my first encounter with a Huntington's disease patient, bringing the challenges of the situation, mistakes, and the learning that emerged. Understanding the possible sentiments and how to balance these emotions may be essential to prepare the neurologist in training for the challenges inherent in treating a patient with a rare disease.


Sujet(s)
Émotions , Maladie de Huntington , Relations médecin-patient , Humains , Maladie de Huntington/psychologie , Maladie de Huntington/thérapie
17.
Int J Mol Sci ; 25(2)2024 Jan 10.
Article de Anglais | MEDLINE | ID: mdl-38255962

RÉSUMÉ

Tauopathies are a group of neurodegenerative diseases whose central feature is dysfunction of the microtubule-associated protein tau (MAPT). Although the exact etiology of tauopathies is still unknown, it has been hypothesized that their onset may occur up to twenty years before the clear emergence of symptoms, which has led to questions about whether the prognosis of these diseases can be improved by, for instance, targeting the factors that influence tauopathy development. One such factor is hypoxia, which is strongly linked to Alzheimer's disease because of its association with obstructive sleep apnea and has been reported to affect molecular pathways related to the dysfunction and aggregation of tau proteins and other biomarkers of neurological damage. In particular, hypobaric hypoxia exposure increases the activation of several kinases related to the hyperphosphorylation of tau in neuronal cells, such as ERK, GSK3ß, and CDK5. In addition, hypoxia also increases the levels of inflammatory molecules (IL-ß1, IL-6, and TNF-α), which are also associated with neurodegeneration. This review discusses the many remaining questions regarding the influence of hypoxia on tauopathies and the contribution of high-altitude exposure to the development of these diseases.


Sujet(s)
Maladie d'Alzheimer , Tauopathies , Humains , Maladie d'Alzheimer/étiologie , Glycogen synthase kinase 3 beta , Hypoxie , Protéines tau , Tauopathies/étiologie
19.
BMJ Neurol Open ; 6(1): e000559, 2024.
Article de Anglais | MEDLINE | ID: mdl-38268749

RÉSUMÉ

Background: Wyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes with fewer than 100 cases reported since its first description in 1937. Case report: A young adult man was initially evaluated at the age of 2 years for proptosis and progressive visual impairment of the right eye, followed by impairment in ocular abduction, adduction and elevation as well as amaurosis. MRI revealed an expansive formation centred in the right orbit compromising conal spaces with distortion of eye muscles and optic nerve. The lesion extended through the superior orbital fissure into the right cavernous sinus and to the contralateral orbit. Despite embolisation, proptosis and oedema of the periorbital tissue continued to worsen. The combination of facial, ocular and intracranial vascular malformations and the exclusion of alternative aetiologies led to a diagnosis of cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (Wyburn-Mason syndrome). Discussion: Important differential diagnoses are other CAMS, such as Sturge-Weber syndrome, as well as other conditions such as retinal cavernous haemangioma and vasoproliferative tumours. The optimal treatment regimen for severe cases of this syndrome is still unclear. Wyburn-Mason syndrome should be considered in patients presenting multiple arteriovenous malformations with orbital apex lesions.

SÉLECTION CITATIONS
DÉTAIL DE RECHERCHE