Metabolic Abnormalities, Dietary Risk Factors and Nutritional Management in Amyotrophic Lateral Sclerosis.

Amyotrophic Lateral Sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects motor neurons, leading to a relentless paralysis of skeletal muscles and eventual respiratory failure. Although a small percentage of patients may have a longer survival time (up to 10 years), in most cases, the median survival time is from 20 to 48 months. The pathogenesis and risk factors for ALS are still unclear: among the various aspects taken into consideration, metabolic abnormalities and nutritional factors have been the focus of recent interests.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes.

Profiling age-related muscle weakness and wasting: neuromuscular junction transmission as a driver of age-related physical decline.

Pathological age-related loss of skeletal muscle strength and mass contribute to impaired physical function in older adults. Factors that promote the development of these conditions remain incompletely understood, impeding development of effective and specific diagnostic and therapeutic approaches. Inconclusive evidence across species suggests disruption of action potential signal transmission at the neuromuscular junction (NMJ), the crucial connection between the nervous and muscular systems, as a possible contributor to age-related muscle dysfunction.

Noninvasive ventilation use by patients enrolled in VITALITY-ALS.

To evaluate the prescribing practices of noninvasive ventilation (NIV) and patient compliance during VITALITY-ALS. VITALITY-ALS enrolled patients with a slow vital capacity (SVC) ≥70% of predicted who were not using NIV at screening. Physicians prescribed NIV without restriction following randomization.

Neuroimmunological therapies for treating spinal cord injury: Evidence and future perspectives.

Spinal cord injury (SCI) has a complex pathophysiology. Following the initial physical trauma to the spinal cord, which may cause vascular disruption, hemorrhage, mechanical injury to neural structures and necrosis, a series of biomolecular cascades is triggered to evoke secondary injury. Neuroinflammation plays a major role in the secondary injury after traumatic SCI.

Calcitonin gene related peptide in migraine: current therapeutics, future implications and potential off-target effects.

Migraine is the second largest cause of years lost to disability globally among all diseases, with a worldwide prevalence over 1 billion. Despite the global burden of migraine, few classes of therapeutics have been specifically developed to combat migraine. After 30 years of translational research, calcitonin gene-related peptide (CGRP) inhibitors have emerged as a promising new tool in the prevention of migraine.

Classification algorithm for the International Classification of Diseases-11 chronic pain classification: development and results from a preliminary pilot evaluation.

The International Classification of Diseases-11 (ICD-11) chronic pain classification includes about 100 chronic pain diagnoses on different diagnostic levels. Each of these diagnoses requires specific operationalized diagnostic criteria to be present. The classification comprises more than 200 diagnostic criteria.

Hereditary spastic paraplegia.

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lower extremities. The estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types.

Posterior Cingulate Cortex Network Predicts Alzheimer's Disease Progression.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by the accumulation of toxic misfolded proteins, which are believed to have propagated from disease-specific epicenters through their corresponding large-scale structural networks in the brain. Although previous cross-sectional studies have identified potential AD-associated epicenters and corresponding brain networks, it is unclear whether these networks are associated with disease progression. Hence, this study aims to identify the most vulnerable epicenters and corresponding large-scale structural networks involved in the early stages of AD and to evaluate its associations with multiple cognitive domains using longitudinal study design.

The neuroanatomical-functional paradox in spinal cord injury.

Although lesion size is widely considered to be the most reliable predictor of outcome after CNS injury, lesions of comparable size can produce vastly different magnitudes of functional impairment and subsequent recovery. This neuroanatomical-functional paradox is likely to contribute to the many failed attempts to independently replicate findings from animal models of neurotrauma. In humans, the analogous clinical-radiological paradox could explain why individuals with similar injuries can respond differently to rehabilitation.

Bilateral "Rescue Strip" Technique for Endoscopic Endonasal Approaches to the Clivus.

Background: The vascularized nasoseptal flap (NSF) is a pillar of contemporary endoscopic skull base reconstruction. The pedicle for the NSF is supplied by the posterior septal branch of the sphenopalatine artery, which courses along the arch of the choana and sphenoid rostrum before entering the nasal septum. Resection or mobilization of this region is necessary for surgical access to the clivus.

Brain Metabolism and Structure in Chronic Migraine.

Purpose Of Review: The purpose of this paper is to review and synthesize current literature in which neurochemical and structural brain imaging were used to investigate chronic migraine (CM) pathophysiology and to further discuss the clinical implications.

Recent Findings: Spectroscopic and structural MRI studies have shown the presence of both impaired metabolism and structural alterations in the brain of CM patients. Metabolic changes in key brain regions support the notion of altered energetics and homeostasis as part of CM pathophysiology.

Amyotrophic lateral sclerosis: update on clinical management.

Purpose Of Review: The current review will provide recent updates in the clinical management of amyotrophic lateral sclerosis (ALS).

Recent Findings: Although there is no cure for ALS, there are new treatments, growing knowledge of genetics, development of clinical staging systems, and the recent coronavirus disease 2019 pandemic that have recently impacted the clinical management of ALS. Increased understanding of genetics has helped provide insights into pathophysiology, the staging systems and clinical measures help to provide tools for monitoring disease clinically, and the recent coronavirus disease 2019 pandemic has provided opportunities to develop telemedicine and remote monitoring of disease thereby increasing accessibility to care and reducing burden of travel to centers for people living with the disease and their caregivers.

Diagnosis and management of congenital neurologic disease during pregnancy.

Advanced techniques in neuroimaging and genetics, as well as the publication of longer-term prognostic studies, have led to fetal neurology becoming an essential part of prenatal obstetric care. A multidisciplinary approach to providing prenatal counseling is now commonly used in most academic medical centers. Common conditions seen are ventriculomegaly, agenesis of the corpus callosum and other midline abnormalities, and posterior fossa anomalies.

Reduction of Peripheral Blood iNKT and γδT Cells in Patients With Parkinson's Disease: An Observational Study.

To investigate the frequencies and numbers of invariant natural killer T (iNKT) cells and γδT cells in the peripheral blood of patients with the Parkinson's disease (PD), and to examine their association with the PD severity. Peripheral blood samples from 47 PD patients (PD group) and 47 age-matched healthy control subjects (HC group) were collected. The frequencies and the absolute cell numbers were analyzed by flow cytometry.

Economic Evaluation Studies.

Economic evaluations, including cost-effectiveness analyses, are frameworks for decision-making. They help to illustrate tradeoffs between selecting one choice over another. This form of analysis is of great power and value to the health-care system.

Medical management with interventional therapy versus medical management alone for unruptured brain arteriovenous malformations (ARUBA): final follow-up of a multicentre, non-blinded, randomised controlled trial.

Background: In A Randomized trial of Unruptured Brain Arteriovenous malformations (ARUBA), randomisation was halted at a mean follow-up of 33·3 months after a prespecified interim analysis showed that medical management alone was superior to the combination of medical management and interventional therapy in preventing symptomatic stroke or death. We aimed to study whether these differences persisted through 5-years' follow-up.

Methods: ARUBA was a non-blinded, randomised trial done at 39 clinical centres in nine countries.

Amyotrophic lateral sclerosis care and research in the United States during the COVID-19 pandemic: Challenges and opportunities.

Coronavirus disease 2019 has created unprecedented challenges for amyotrophic lateral sclerosis (ALS) clinical care and research in the United States. Traditional evaluations for making an ALS diagnosis, measuring progression, and planning interventions rely on in-person visits that may now be unsafe or impossible. Evidence- and experience-based treatment options, such as multidisciplinary team care, feeding tubes, wheelchairs, home health, and hospice, have become more difficult to obtain and in some places are unavailable.

Effects of local hypothermia-rewarming on physiology, metabolism and inflammation of acutely injured human spinal cord.

In five patients with acute, severe thoracic traumatic spinal cord injuries (TSCIs), American spinal injuries association Impairment Scale (AIS) grades A-C, we induced cord hypothermia (33 °C) then rewarming (37 °C). A pressure probe and a microdialysis catheter were placed intradurally at the injury site to monitor intraspinal pressure (ISP), spinal cord perfusion pressure (SCPP), tissue metabolism and inflammation. Cord hypothermia-rewarming, applied to awake patients, did not cause discomfort or neurological deterioration.

Frontal osteoplastic flap without frontal sinus obliteration for orbital roof decompression.

: We describe a novel surgical approach for bilateral orbital roof decompression using a frontal osteoplastic flap without frontal sinus obliteration. This technique utilizes a combined external and endonasal endoscopic approach for wide exposure to the orbital roof bilaterally. We demonstrate this technique for the resection of a massive frontal fibrous dysplasia lesion in a healthy male with bilateral orbital roof involvement.