Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Mar 2015
ReviewUllrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Collagen VI is widely distributed throughout extracellular matrices (ECMs) in various tissues. In skeletal muscle, collagen VI is particularly concentrated in and adjacent to basement membranes of myofibers. Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in either COL6A1, COL6A2 or COL6A3 gene, thereby leading to collagen VI deficiency in the ECM. ⋯ To date, treatment for patients is supportive for symptoms such as joint contractures, respiratory failure and scoliosis. There have been clinical trials based on the theory of mitochondrion-mediated myofiber apoptosis or impaired autophagy. Furthermore, the fact that collagen VI producing cells in skeletal muscle are interstitial mesenchymal cells can support proof of concept for stem cell-based therapy.
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Artificial neural networks (ANNs) effectively analyze non-linear data sets. The aimed was A review of the relevant published articles that focused on the application of ANNs as a tool for assisting clinical decision-making in neurosurgery. A literature review of all full publications in English biomedical journals (1993-2013) was undertaken. ⋯ Of these, 50 articles were eligible for inclusion in this review. The synthesis of the data showed several applications of ANN in neurosurgery, including: (1) diagnosis and assessment of disease progression in low back pain, brain tumours and primary epilepsy; (2) enhancing clinically relevant information extraction from radiographic images, intracranial pressure processing, low back pain and real-time tumour tracking; (3) outcome prediction in epilepsy, brain metastases, lumbar spinal stenosis, lumbar disc herniation, childhood hydrocephalus, trauma mortality, and the occurrence of symptomatic cerebral vasospasm in patients with aneurysmal subarachnoid haemorrhage; (4) the use in the biomechanical assessments of spinal disease. ANNs can be effectively employed for diagnosis, prognosis and outcome prediction in neurosurgery.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2015
Somatic symptom count scores do not identify patients with symptoms unexplained by disease: a prospective cohort study of neurology outpatients.
Somatic symptoms unexplained by disease are common in all medical settings. The process of identifying such patients requires a clinical assessment often supported by clinical tests. Such assessments are time-consuming and expensive. Consequently the observation that such patients tend to report a greater number of symptom has led to the use of self-rated somatic symptom counts as a simpler and cheaper diagnostic aid and proxy measure for epidemiological surveys. However, despite their increasing popularity there is little evidence to support their validity. ⋯ Self-rated symptom count scores should not be used to identify patients with symptoms unexplained by disease.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2015
Comparative StudyEthnicity can predict GLRA1 genotypes in hyperekplexia.
Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance. ⋯ Self-declared ethnicity can predict gene-screening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2015
Cortical thickness in ALS: towards a marker for upper motor neuron involvement.
Examine whether cortical thinning is a disease-specific phenomenon across the spectrum of motor neuron diseases in relation to upper motor neuron (UMN) involvement. ⋯ PCG cortical thinning was found to be specific for motor neuron disease with clinical UMN involvement. Normal levels of cortical thickness in mimic disorders or LMN phenotypes suggest that cortical thinning reflects pathological changes related to UMN involvement. Progressive cortical thinning in the temporal lobe suggests recruitment of non-motor areas, over time.