摘要： Due to the very low incidence of non-small cell lung cancer associated with PNS, her diagnosis of lung adenocarcinoma was not believed to be contributory to her change in mental status. B CONCLUSIONS: b Our case demonstrates that lung adenocarcinoma can play a role in the development of paraneoplastic neurologic syndrome and should be considered in the setting of a patient with altered mental status without other cause. [Extracted from the article]

关键词： DIAGNOSIS of Duchenne muscular dystrophy   TREATMENT of Duchenne muscular dystrophy   DUCHENNE muscular dystrophy   GLUCOCORTICOIDS   HEALTH care teams   NEWBORN infant medical examinations   LIFE expectancy   EARLY diagnosis   SYMPTOMS  

摘要： Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. A mutation in the DMD gene disrupts dystrophin (protein) production, causing damage to muscle integrity, weakness, loss of ambulation, and cardiopulmonary compromise by the second decade of life. Life expectancy has improved from mid-teenage years to mid-20s with the use of glucocorticoids and beyond the third decade with ventilator support and multidisciplinary care. However, Duchenne muscular dystrophy is associated with comorbidities and is a fatal disease. Glucocorticoids prolong ambulation, but their side effects are significant. Emerging investigational therapies have surfaced over the past decade and have rapidly been tested in clinical trials. Gene-specific strategies include nonsense readthrough, exon skipping, gene editing, utrophin modulation, and gene replacement. Other mechanisms include muscle regeneration, antioxidants, and antifibrosis and anti-inflammatory pathways. With potential therapies emerging, early diagnosis is needed to initiate treatment early enough to minimize morbidity and mortality. Newborn screening can be used to significantly improve early diagnosis, especially for gene-specific therapeutics.

关键词： ALS   Anxiety   MSA   Parkinson disease   SCD   Telephone call service  

摘要： Neurological disease patients living alone or with a single caregiver need a support system to care for their psychological symptoms. We evaluated the clinical effects of a unique telephone call system that automatically called participants at their desired times once a week for 3 months. In total, 104 neurological disease patients and caregivers were evaluated by the geriatric depression scale, apathy scale and state and trait anxiety inventories (STAI) forms X-I for depression, apathy and state anxiety, respectively. High baseline STAI scores (40 >=) significantly improved in the Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and spinocerebellar degeneration (SCD) + multiple system atrophy (MSA) patients (p = 0.001, p = 0.013 and p = 0.046, respectively) after patients/caregivers used the telephone call service. The baseline (pre) STAI score significantly correlated with the score change (post-pre) in PD, ALS, SCD + MSA, Alzheimer' s disease patients (ADp), and caregivers for ADp (p < 0.0001, p = 0.001, p = 0.011, p = 0.025 and p = 0.020, respectively). The geriatric depression scale and apathy scale did not significantly improve. The present study suggests that there is a positive effect of using an automated telephone call service for anxiety in neurological disease patients and caregivers, especially in ALS, SCD + MSA and PD patients with high STAI scores (40 >=). (C) 2018 Elsevier Ltd. All rights reserved.

关键词： Computed tomography   Diagnosis   Hydrocephalus   Stroke  

关键词： Ferroptosis   Iron   Reactive oxygen species   Neurodegenerative diseases   Cell death  

摘要： Ferroptosis is a recently defined form of cell death with the involvement of iron and reactive oxygen species (ROS), which is distinct from apoptosis, autophagy and other forms of cell death. Emerging evidence suggested that iron accumulation and lipid peroxidation can be discovered in various neurological diseases, accompanied with reduction of glutathione (GSH) and glutathione peroxidase 4 (GPX4). In addition, ferroptotic inhibitors have been shown to protect neurons, and recover the cognitive function in disease animal models. This review summarizes the mechanisms underlying ferroptosis and reviews the contributions of ferroptosis in neurodegenerative diseases (i.e. Alzheimer's disease and Parkinson's disease), traumatic brain injury, as well as hemorrhagic and ischemic stroke, to provide the current understanding of this novel form of cell death in neurological disorders.

关键词： Neurological orphan disease   Amyotrophic lateral sclerosis   Duchenne muscular dystrophy   Spinal muscular atrophy and familial amyloid polyneuropathy  

摘要： Several rare or orphan diseases have been characterized that singly affect low numbers of people, but cumulatively reach similar to 6%-10% of the population in Europe and in the United States. Human genetics has shown to be broadly effective when evaluating subjacent genetic defects such as orphan genetic diseases, but on the other hand, a modest progress has been achieved toward comprehending the molecular pathologies and designing new therapies. Chemical genetics, placed at the interface of chemistry and genetics, could be employed to understand the molecular mechanisms of subjacent illnesses and for the discovery of new remediation processes. This review debates current progress in chemical genetics, and how a variety of compounds and reaction mechanisms can be used to study and ultimately treat rare genetic diseases. We focus here on a study involving Amyotrophic lateral sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Spinal muscular atrophy (SMA) and Familial Amyloid Polyneuropathy (FAP), approaching different treatment methods and the reaction mechanisms of several compounds, trying to elucidate new routes capable of assisting in the treatment profile.

关键词： Inflammation   blood-brain barrier   depression   leak brain   microbiota  

摘要： Background: The blood-brain barrier acts as a highly regulated interface;its dysfunction may exacerbate, and perhaps initiate, neurological and neuropsychiatric disorders. Methods: In this narrative review, focussing on redox, inflammatory and mitochondrial pathways and their effects on the blood-brain barrier, a model is proposed detailing mechanisms which might explain how increases in blood-brain barrier permeability occur and can be maintained with increasing inflammatory and oxidative and nitrosative stress being the initial drivers. Results: Peripheral inflammation, which is causatively implicated in the pathogenesis of major psychiatric disorders, is associated with elevated peripheral pro-inflammatory cytokines, which in turn cause increased blood-brain barrier permeability. Reactive oxygen species, such as superoxide radicals and hydrogen peroxide, and reactive nitrogen species, such as nitric oxide and peroxynitrite, play essential roles in normal brain capillary endothelial cell functioning;however, chronically elevated oxidative and nitrosative stress can lead to mitochondrial dysfunction and damage to the blood-brain barrier. Activated microglia, redox control of which is mediated by nitric oxide synthases and nicotinamide adenine dinucleotide phosphate (NADPH) oxidases, secrete neurotoxic molecules such as reactive oxygen species, nitric oxide, prostaglandin, cyclooxygenase-2, quinolinic acid, several chemokines (including monocyte chemoattractant protein-1 [MCP-1], C-X-C motif chemokine ligand 1 [CXCL-1] and macrophage inflammatory protein 1 [MIP-1]) and the pro-inflammatory cytokines interleukin-6, tumour necrosis factor- and interleukin-1, which can exert a detrimental effect on blood-brain barrier integrity and function. Similarly, reactive astrocytes produce neurotoxic molecules such as prostaglandin E2 and pro-inflammatory cytokines, which can cause a leaky brain'. Conclusion: Chronic inflammatory and oxidative and nitrosative stress is associate

关键词： Neurology   profile   registry   resource-poor  

摘要： Background: The neurology register is based in a tertiary care center in a rural north-west India. The center caters to a predominantly rural population. The present study is based on the data retrieved from this registry over a period of 1 year. Materials and Methods: Details of the patients reporting to the Department of Neurology are entered in a registry. For the purpose of this study, 1-year data (from August 1, 2013, to July 31, 2014) of patients (with complete information and final diagnosis) were analyzed. Results: Out of a total of 2431 patients, 1296 (53.3%) were males and 1135 (46.7%) were females. The six major neurological disorders identified were epilepsy and seizures, headache, spondolysis with neurological manifestations, cerebrovascular disease, Parkinsonism, and neuropathies. Conclusion: Six neurological disorders account for more than two-thirds of the patients with neurological disorders, whereas epilepsy, seizures, and headache together constituted more than one-third.

摘要： The prevalence of neurological disorders is a measure of the burden while incidence study will provide the magnitude of the number of new cases in a year and will also generate important data regarding morbidity, mortality, and trend of the diseases over the period of the study. [3],[4],[5],[6],[7],[8],[9],[10] To overcome these constraints, novel two-phase strategy was developed; in the first-phase training of health workers or social workers to administer a validated questionnaire developed by the World Health Organization to screen the population and in the second-phase neurologist to examine the screened positive subjects and make a clinical diagnosis. In view of the constraints of limited specialist workforce and finances, with optimization of available resources, neurology care can be delivered through “rural model,” “community health center model,” “satellite clinic model,” and “district model” with integration of these various models through interactive methods.