SciCombinator

Discover the most talked about and latest scientific content & concepts.

Concept: Neurological disorder

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Attention-deficit/hyperactivity disorder (ADHD) is a common neurological disorder with symptom onset early in childhood. Growing evidence suggests anomalous brain development across multiple brain regions is evident in school-aged children; however, few studies have examined whether such differences are notable in the preschool years when symptom onset typically occurs.

Concepts: Central nervous system, Neurology, Educational psychology, Neurological disorder, Neurological disorders

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Restless legs syndrome is a curious neurological disorder of unknown aetiology. A new study has found that Drosophila mutants in the fly homologue of a human gene, BTBD9, that has been implicated as a risk factor for restless legs display important features of the syndrome.

Concepts: Cell, Chromosome, The Canon of Medicine, Neurology, Epilepsy, Neurological disorder, Restless legs syndrome, BTBD9

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Visual field deficits are common in neurologic disease conditions such as cerebrovascular disease, traumatic brain injury, and brain tumors. Loss of visual fields may lead to impairment of reading skills (hemianopic dyslexia) and limitations of daily activities such as driving, which can have a significant impact on an individual’s socioeconomic status and quality of life. Moreover, patients with motor deficits from neurologic diseases have a 20% decreased likelihood of achieving independence in ambulation and self-care activities with coexisting hemianopia. Studies on the natural history of homonymous hemianopia have shown that spontaneous improvement of visual fields may occur in less than 40% of individuals early in the disease process. Improvement is usually incomplete, which implies that a significant number of individuals will be left with a disabling visual deficit. Although several methods of rehabilitation (optical, compensatory, and restitution therapy) are used in practice, none, unfortunately, have shown consistent and significant benefits. In this review, the authors focus on the natural history, impact, prognosis, and treatment modalities for neurologic field defects.

Concepts: Medicine, Cancer, Brain, Traumatic brain injury, Brain tumor, Neurology, Neurological disorder, Visual field

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Many effective medical therapies are available for treating neurological diseases, but these therapies tend to be expensive and adherence is critical to their effectiveness. We used patient-reported data to examine the frequency and determinants of financial barriers to medication adherence among individuals treated for neurological disorders.

Concepts: Medicine, Brain, Cure, Therapy, Neurology, Epilepsy, Medical school, Neurological disorder

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Huntington’s disease (HD) is a dominantly inherited neurological disorder caused by CAG-repeat expansion in exon 1 of Huntingtin (HTT). But in addition to the neurological disease, mutant HTT (mHTT), which is ubiquitously expressed, impairs other organ systems. Indeed, epidemiological and animal model studies suggest higher incidence of and mortality from heart disease in HD. Here, we show that the protein complex mTORC1 is dysregulated in two HD mouse models through a mechanism that requires intrinsic mHTT expression. Moreover, restoring cardiac mTORC1 activity with constitutively active Rheb prevents mortality and relieves the mHTT-induced block to hypertrophic adaptation to cardiac stress. Finally, we show that chronic mTORC1 dysregulation is due in part to mislocalization of endogenous Rheb. These data provide insight into the increased cardiac-related mortality of HD patients, with cardiac mHTT expression inhibiting mTORC1 activity, limiting heart growth, and decreasing the heart’s ability to compensate to chronic stress.

Concepts: Epidemiology, Genetic disorder, Heart, Heart disease, Organ, Neurology, Huntington's disease, Neurological disorder

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Intracerebral hemorrhage (ICH) is an acute neurological disorder with high mortality and no effective treatment. In addition to the initial bleeding event, rebleeding and hematoma expansion are associated with poor outcome in these patients. We studied the effectiveness of the new antifibrinolytic agent CM352, a short-half-life matrix metalloproteinase inhibitor, for achieving early hemostasis and improving functional recovery in a rat model of collagenase-induced ICH.

Concepts: Neurology, Hemostasis, Bleeding, Cerebral hemorrhage, Neurological disorder, Bruise, 2004 albums, Matrix metalloproteinase inhibitor

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Trigeminal neuralgia (TN) is an exemplary condition of neuropathic facial pain. However, formally classifying TN as neuropathic pain based on the grading system of the International Association for the Study of Pain is complicated by the requirement of objective signs confirming an underlying lesion or disease of the somatosensory system. The latest version of the International Classification of Headache Disorders created similar difficulties by abandoning the term symptomatic TN for manifestations caused by major neurologic disease, such as tumors or multiple sclerosis. These diagnostic challenges hinder the triage of TN patients for therapy and clinical trials, and hamper the design of treatment guidelines. In response to these shortcomings, we have developed a classification of TN that aligns with the nosology of other neurologic disorders and neuropathic pain. We propose 3 diagnostic categories. Classical TN requires demonstration of morphologic changes in the trigeminal nerve root from vascular compression. Secondary TN is due to an identifiable underlying neurologic disease. TN of unknown etiology is labeled idiopathic. Diagnostic certainty is graded possible when pain paroxysms occur in the distribution of the trigeminal nerve branches. Triggered paroxysms permit the designation of clinically established TN and probable neuropathic pain. Imaging and neurophysiologic tests that establish the etiology of classical or secondary TN determine definite neuropathic pain.

Concepts: Medicine, Greek loanwords, Neurology, Pain, Neurological disorder, Neurological disorders, Trigeminal nerve, Trigeminal neuralgia

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From a systems biology perspective, the brain and spinal cord are interwoven with the body: they are ‘embodied’. Freund et al. propose an integrative framework based on biophysical models that aims to characterize neurological disorders and minimize their impact on patients by considering functional interactions between supra-spinal, spinal and peripheral regions simultaneously.

Concepts: Central nervous system, Medicine, Brain, Neurology, Electroencephalography, Cerebrospinal fluid, Neurological disorder

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Hypoxia (low oxygen) is associated with many brain disorders as well as inflammation, but the lack of widely available technology has limited our ability to study hypoxia in human brain. Multiple sclerosis (MS) is a poorly understood neurological disease with a significant inflammatory component which may cause hypoxia. We hypothesized that if hypoxia were to occur, there should be reduced microvascular hemoglobin saturation (StO2). In this study, we aimed to determine if reduced StO2 can be detected in MS using frequency domain near-infrared spectroscopy (fdNIRS). We measured fdNIRS data in cortex and assessed disability of 3 clinical isolated syndrome (CIS), 72 MS patients and 12 controls. Control StO2 was 63.5 ± 3% (mean ± SD). In MS patients, 42% of StO2 values were more than 2 × SD lower than the control mean. There was a significant relationship between StO2 and clinical disability. A reduced microvascular StO2 is supportive (although not conclusive) that there may be hypoxic regions in MS brain. This is the first study showing how quantitative NIRS can be used to detect reduced StO2 in patients with MS, opening the door to understanding how microvascular oxygenation impacts neurological conditions.

Concepts: Hemoglobin, Brain, Multiple sclerosis, Cerebral cortex, Neurology, Hypoxia, Neurological disorder, Near infrared spectroscopy