Murphycramer2559

While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have "the knowledge travel instead of the patient," which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups (i) Cerebellar Ataxias and Hereditary Spastic Parapg genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public.Introduction With an increasing number of China's aging population, Parkinson's disease (PD) increases year by year. Persons with PD exhibit abnormal balance functions, leading to motor skills difficulties, such as unstable walking or even falling. Therefore, activities of daily living and quality of life are affected. This study aims to explore the effectiveness of Tai Chi training based on the mobile phone app in improving the balance ability of persons with PD. Methods and Analysis A randomized, single-blind, parallel controlled trial will be conducted in this study. One hundred forty-four persons with PD who meet the inclusion criteria will be randomly divided into a 111 ratio (1) control group, (2) basic experimental group (basic app with no Tai Chi training features), and (3) balanced-enhanced experimental group (basic app with Tai Chi training features). Individuals with PD will be evaluated on balance and motor function outcomes. The primary outcome measure is the limits of stability (including the masent will be obtained from all participants or their guardians. The authors intend to submit the study findings to peer-reviewed journals or academic conferences to be published. Clinical Trial Registration Chinese Clinical Trial Registry (ChiCTR2000029135).The pathogenesis of intracranial syphilitic gummas remains poorly understood. Microglia are generally considered to be the main cell type of the innate immune system in the brain. Determination of the composition of infiltrating microglia of patients with typical intracranial syphilitic gummas may contribute to the understanding of the pathological process. We report a case of an intracranial syphilitic gumma who presented with right upper limb weakness. The histological analysis showed the presence of Treponema pallidum and infiltration with histiocytes. Immunostaining indicated that cells were predominantly the M2a and M2c, which were Arg-1+ and IL-10+. These findings suggest that there is an increased number of M2a/M2c microglia in intracranial syphilitic gummas, which may be part of the immune escape mechanisms triggered by Treponema pallidum.Patients suffering from COVID-19 experience a wide range of symptoms and sequelae, including increasingly recognized neurological problems. A concerted effort is necessary to identify and characterize these issues, whether newly appearing as a result of COVID-19 disease or exacerbations of underlying conditions. A national resource to collect information and/or biospecimens regarding neurological complications of COVID-19 offers an opportunity for broad representation, harmonization, and rapid learning, all while ensuring robust protection of confidential information through the use of global unique identifiers to protect patient privacy.Objective This work aims to present our experience of patients with complex cerebral aneurysm treated with a hybrid approach superficial temporal artery-middle cerebral artery (STA-MCA) bypass in combination with endovascular exclusion of the aneurysm. Method Patients with aneurysms deemed unclippable and uncoilable were included. All patients were treated with a hybrid approach. After STA-MCA bypass, the parent artery was temporarily occluded. If the intraoperative motor evoked potential (MEP) and somatosensory evoked potential (SEP) waveforms remain normal and last for 30 min, the aneurysm and te parent artery will be embolized permanently with detachable balloons or coils. Results A total of 20 patients with 22 aneurysms were included in this study. There were 13 women and 7 men, with an average age of 42.5 years. Intraoperative angiography showed the good patency of all the STA grafts, and neither SEP nor MEP abnormalities were detected. After the parent artery and the aneurysm were occluded, the intraoperative angiography showed an immediately successful exclusion of the aneurysm in 20 aneurysms and immediate contrast stasis in two. All patients recovered uneventfully without ischemic or hemorrhagic complication. Angiography at 6-month follow-up showed the total obliteration in 20 aneurysms. Two aneurysms showed residuals and were recoiled. All STA grafts showed a good patency, and the mean graft flow was 124.2 ml/min. Conclusion STA-MCA bypass in combination with endovascular exclusion is an appropriate option for patients with complex cerebral aneurysms that are not amenable to direct surgical clipping or endovascular embolization.The cerebral vasculature is made up of highly specialized structures that assure constant brain perfusion necessary to meet the very high demand for oxygen and glucose by neurons and glial cells. A dense, redundant network of arteries is spread over the entire pial surface from which penetrating arteries dive into the cortex to reach the neurovascular units. Besides providing blood to the brain parenchyma, cerebral arteries are key in the drainage of interstitial fluid (ISF) and solutes such as amyloid-beta. This occurs along the basement membranes surrounding vascular smooth muscle cells, toward leptomeningeal arteries and deep cervical lymph nodes. The dense microvasculature is made up of fine capillaries. Capillary walls contain pericytes that have contractile properties and are lined by a highly specialized blood-brain barrier that regulates the entry of solutes and ions and maintains the integrity of the composition of ISF. They are also important for the production of ISF. Capillaries drain into venules that course centrifugally toward the cortex to reach cortical veins and empty into dural venous sinuses. The walls of the venous sinuses are also home to meningeal lymphatic vessels that support the drainage of cerebrospinal fluid, although such pathways are still poorly understood. Damage to macro- and microvasculature will compromise cerebral perfusion, hamper the highly synchronized movement of neurofluids, and affect the drainage of waste products leading to neuronal and glial degeneration. This review will present vascular anatomy, their role in fluid dynamics, and a summary of how their dysfunction can lead to neurodegeneration.Hearing and balance impairment are the most frequently reported features of infratentorial (classical) superficial siderosis (iSS). There are few comprehensive descriptions of audiovestibular function in iSS and therefore limited understanding of the affected segment(s) of the audiovestibular pathway. In addition, monitoring disease progression and response to treatment is challenging and currently mainly guided by subjective patient reports and magnetic resonance imaging. To the best of our knowledge, there have been no previous reports assessing central auditory function in iSS. We describe such findings in a patient with iSS in an attempt to precisely localize the site of the audiovestibular dysfunction, determine its severity and functional impact. We confirm the presence of (asymmetrical) auditory neuropathy and identify central auditory processing deficits, suggesting involvement of the central auditory pathway beyond the brainstem. We correlate the audiological and vestibular findings with self-report measures and the siderosis appearances on brain magnetic resonance images.Background Secondary transports of patients suffering from traumatic brain injury (TBI) may result in a delayed management and neurosurgical intervention, which is potentially detrimental. The aim of this study was to study the effect of triaging and delayed transfers on outcome, specifically studying time to diagnostics and neurosurgical management. Methods This was a retrospective observational cohort study of TBI patients in need of neurosurgical care, 15 years and older, in the Stockholm Region, Sweden, from 2008 throughout 2014. Data were collected from pre-hospital and in-hospital charts. Selumetinib nmr Known TBI outcome predictors, including the protein biomarker of brain injury S100B, were used to assess injury severity. Characteristics and outcomes of direct trauma center (TC) and those of secondary transfers were evaluated and compared. Functional outcome, using the Glasgow Outcome Scale, was assessed in survivors at 6-12 months after trauma. Regression models, including propensity score balanced models, were usedI patients secondary transported to a TC had surgical intervention performed hours later, though this did not affect outcome, presumably demonstrating that accurate pre-hospital triaging was performed. This indicates that for selected patients, a wait-and-see approach with delayed neurosurgical intervention is not necessarily detrimental, but warrants further research.We describe a rare case of posterior semicircular canal (PSC) fibrosis following acute labyrinthine ischemia in the territory supplied by the common cochlear artery (CCA) and review the relevant literature. A 71-year-old man with multiple vascular risk factors presented 12 days after the onset of acute vertigo and profound left-sided hearing loss. Right-beating spontaneous nystagmus with downbeat components elicited by mastoid vibrations and headshaking was detected. The video head impulse test (vHIT) revealed an isolated hypofunction of the left PSC, whereas vestibular evoked myogenic potentials (VEMPs) showed ipsilateral saccular loss. The clinical presentation and instrumental picture were consistent with acute ischemia in the territory supplied by left CCA. Compared to previous imaging, a new MRI of the brain with 3D-FIESTA sequences highlighted a filling defect in the left PSC, consistent with fibrosis. Hearing function exhibited mild improvement after steroid therapy and hyperbaric oxygen sessions, whereas vHIT abnormalities persisted over time. To the best of our knowledge, this is the only case in the literature reporting a filling defect on MRI, consistent with semicircular canal fibrosis following acute labyrinthine ischemia. Moreover, PSC fibrosis was related with poor functional outcome. We therefore suggest using balanced steady-state gradient-echo sequences a few weeks following an acute lesion of inner ear sensors to detect signal loss within membranous labyrinth consistent with post-ischemic fibrosis. Besides addressing the underlying etiology, signal loss might also offer clues on the functional behavior of the involved sensor over time. In cases of acute loss of inner ear function, a careful bedside examination supplemented by instrumental assessments, including vHIT and VEMPs, of vestibular receptors and afferents may be completed by MRI with balanced steady-state gradient-echo sequences at a later time to confirm the diagnosis and address both etiology and functional outcome.