Search results for "EURA"
showing 10 items of 3336 documents
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…
Influence of cognitive-motor expertise on brain dynamics of anticipatory-based outcome processing.
2019
Motor experience plays an important role in the ability to anticipate action outcomes, but little is known about the brain processes through which it modulates the preparation for unexpected events. To address this issue, EEG was employed while table tennis players and novices observed videos of serves in order to predict the expected ball direction based on the kinematics of a model's movement. Furthermore, we manipulated the congruency between the model's body kinematics and the subsequent ball trajectory while assessing the cerebral cortical activity of novices and experts to understand how experts respond to unexpected outcomes. Experts were more accurate in predicting the ball trajecto…
The gene expression profile of cumulus cells reveals altered pathways in patients with endometriosis
2014
PURPOSE: The objective of this experimental study was to compare the global gene expression profile of CC of mature oocytes in 18 patients with severe endometriosis and CC in 18 control patients affected by a severe male factor. METHODS: For each group, the CC were pooled, RNA was extracted and a microarray performed. For validating the microarray, a quantitative real-time PCR was performed in the CC of an independent set of patients with endometriosis (n = 5) and controls (n = 7). RESULTS: 595 differentially expressed genes (320 down-regulated, 275 up-regulated, p < 0.05, fold change ≥1.5) were identified. The most significant changes were observed in genes involved in the chemokine signal…
Neural substrates of the interaction of emotional stimulus processing and motor inhibitory control: an emotional linguistic go/no-go fMRI study.
2007
Neural substrates of behavioral inhibitory control have been probed in a variety of animal model, physiologic, behavioral, and imaging studies, many emphasizing the role of prefrontal circuits. Likewise, the neurocircuitry of emotion has been investigated from a variety of perspectives. Recently, neural mechanisms mediating the interaction of emotion and behavioral regulation have become the focus of intense study. To further define neurocircuitry specifically underlying the interaction between emotional processing and response inhibition, we developed an emotional linguistic go/no-go fMRI paradigm with a factorial block design which joins explicit inhibitory task demand (i.e., go or no-go)…
Secondary tactile hypoesthesia: a novel type of pain-induced somatosensory plasticity in human subjects
2004
Quantitative sensory testing revealed that pain induced by intracutaneous capsaicin injection elicited secondary hyperalgesia coexisting with secondary tactile hypoesthesia. Mapping the areas of altered mechanical sensations adjacent to the capsaicin injection disclosed that the area of secondary hyperalgesia was always nested in a larger area of secondary hypoesthesia easily detected as numbness by most subjects. Psychometric functions revealed a twofold rightward shift of tactile detection (hypoesthesia), which coexisted with a more than fourfold leftward shift of pricking pain detection (hyperalgesia) in the same skin area. As a mechanism we propose a functional switch at the spinal leve…