Search results for "Neural"
showing 10 items of 2783 documents
Peripheral nerve involvement in chronic liver disease. Clinical and electrophysiological study.
1986
A clinical and electrophysiological study was carried out on 19 selected patients with chronic liver disease. Clinical signs of peripheral nerve involvement were found in 4 patients (21%); while electrophysiological impairment was present in 11 patients (57.8%). These abnormalities were mostly limited to the sensory and motor fibers of the tibialis posterior nerve. Our data confirm the presence of peripheral nerve involvement in chronic liver disease, and that it may be evidenced by careful electrophysiological examination.
A deep learning framework for automatic diagnosis of unipolar depression.
2019
Abstract Background and purpose In recent years, the development of machine learning (ML) frameworks for automatic diagnosis of unipolar depression has escalated to a next level of deep learning frameworks. However, this idea needs further validation. Therefore, this paper has proposed an electroencephalographic (EEG)-based deep learning framework that automatically discriminated depressed and healthy controls and provided the diagnosis. Basic procedures In this paper, two different deep learning architectures were proposed that utilized one dimensional convolutional neural network (1DCNN) and 1DCNN with long short-term memory (LSTM) architecture. The proposed deep learning architectures au…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Cognitive variability in bipolar I disorder: A cluster-analytic approach informed by resting-state data
2019
Abstract Background While the presence of cognitive performance deficits in bipolar disorder I (BD-I) is well established, there is no consensus about which cognitive abilities are affected. Heterogeneous phenotypes displayed in BD-I further suggest the existence of subgroups among the disorder. The present study sought to identify different cognitive profiles among BD-I patients as well as potentially underlying neuronal network changes. Methods 54 euthymic BD-I patients underwent cognitive testing and resting state neuroimaging. Hierarchical cluster-analysis was performed on executive function scores of bipolar patients. The derived clusters were compared against 54 age-, gender- and IQ-m…
Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation
2015
Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…
Direct pericyte-to-neuron reprogramming via unfolding of a neural stem cell-like program
2018
Ectopic expression of defined transcription factors can force direct cell-fate conversion from one lineage to another in the absence of cell division. Several transcription factor cocktails have enabled successful reprogramming of various somatic cell types into induced neurons (iNs) of distinct neurotransmitter phenotype. However, the nature of the intermediate states that drive the reprogramming trajectory toward distinct iN types is largely unknown. Here we show that successful direct reprogramming of adult human brain pericytes into functional iNs by Ascl1 and Sox2 encompasses transient activation of a neural stem cell-like gene expression program that precedes bifurcation into distinct…
Breakdown of Thalamo-Cortical Connectivity Precedes Spike Generation in Focal Epilepsies
2017
Electroencephalography (EEG) spikes and focal epileptic seizures are generated in circumscribed cerebral networks that have been insufficiently described. For precise time and spatial domain network characterization, we applied in patients with focal epilepsy dense array 256-channel EEG recordings with causal connectivity estimation by using time-resolved partial directed coherence and 3T-magnetic resonance imaging-derived cortical and thalamus integrity reconstruction. Before spike generation, significant theta and alpha bands driven information flows alterations were noted from both temporal and frontal lobes to the thalamus and from the thalamus to the frontal lobe. Medial dorsal and ven…
Direction-dependent activation of the insular cortex during vertical and horizontal hand movements
2016
International audience; The planning of any motor action requires a complex multisensory processing by the brain. Gravity - immutable on Earth - has been shown to be a key input to these mechanisms. Seminal fMRI studies performed during visual perception of falling objects and self-motion demonstrated that humans represent the action of gravity in parts of the cortical vestibular system; in particular, the insular cortex and the cerebellum. However, little is known as to whether a specific neural network is engaged when processing non-visual signals relevant to gravity. We asked participants to perform vertical and horizontal hand movements without visual control, while lying in a 3T-MRI sc…
Dropout from Court-Mandated Intervention Programs for Intimate Partner Violence Offenders: The Relevance of Alcohol Misuse and Cognitive Impairments
2019
There is considerable interest in offering insight into the mechanisms that might explain why certain perpetrators of intimate partner violence against women (IPVAW) drop out of interventions. Although several socio-demographic variables and attitudes towards IPVAW have been proposed as risk factors for IPVAW perpetrators&rsquo
Treatment of painful radiculopathies with capsaicin 8% cutaneous patch.
2017
The treatment of neuropathic pain due to low-back (lumbosacral) radiculopathies, a common source of neuropathic pain, is challenging and often requires a multimodal therapeutic approach. The capsaicin 8% patch is the first topical analgesic licensed for peripheral neuropathic pain. To evaluate this treatment, a subset of patients with painful radiculopathy (lumbar and cervical, including ventral and dorsal rami) enrolled into the multicenter, non-interventional QUEPP study (QutenzaOf the 1044 study participants, 50 were diagnosed with painful radiculopathy as only peripheral neuropathic pain syndrome and were eligible for evaluation. Patients received a single treatment (visit 1) with follo…