Search results for " Neurologic"
showing 10 items of 202 documents
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
2015
Elevated fetal hemoglobin (HbF) ameliorates the clinical severity of hemoglobinopathies such as β-thalassemia and sickle cell anemia. Currently, the only curative approach for individuals under chronic transfusion/chelation support therapy is allogeneic stem cell transplantation. However, recent analyses of heritable variations in HbF levels have provided a new therapeutic target for HbF reactivation: the transcriptional repressor BCL11A. Erythroid-specific BCL11A abrogation is now actively being sought as a therapeutic avenue, but the specific impact of such disruption in humans remains to be determined. Although single nucleotide polymorphisms in BCL11A erythroid regulatory elements have …
Selective sparing of face learning in a global amnesic patient
2001
Objective - To test the hypothesis that visual memory for faces can be dissociated from visual memory for topographical material. Method - A patient who developed a global amnesic syndrome after acute carbon monoxide poisoning is described. A neuroradiological examination documented severe bilateral atrophy of the hippocampi. Results - Despite a severe anterograde memory disorder involving verbal information, abstract figures, concrete objects, topographical scenes, and spatial information, the patient was still able to learn previously unknown human faces at a normal (and, in some cases, at a higher) rate. Conclusions - Together with previous neuropsychological evidence documenting selecti…
MOTOR DYSFUNCTION OF THE "NON AFFECTED" LOWER LIMB: A KINEMATIC COMPARATIVE STUDY BETWEEN HEMIPARETIC STROKE AND TOTAL KNEE PROSTHESIZED PATIENTS
2009
In patients with hemispheric stroke, abnormal motor performances are described also in the ipsilateral limbs. They may be due to a cortical reorganization in the unaffected hemisphere; moreover, also peripheral mechanisms may play a role. To explore this hypothesis, we studied motor performances in 15 patients with hemispheric stroke and in 14 patients with total knee arthroplasty, which have a reduced motility in the prosthesized leg. Using the unaffected leg, they performed five superimposed circular trajectories in a prefixed pathway on a computerized footboard, while looking at a marker on the computer screen. The average trace error was significantly different between the groups of pat…
Neurological complications of Anderson-Fabry disease
2012
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females with AFD usually seems to be less severely affected. The most prominent CNS manifestations consist of cerebrovascular events such as transient ischaemic attacks (TIAs) and (recurrent) strokes . For the most part, CNS complications in AFD have been attributed to cerebral vasculopathy, including anatomical abnormalities. The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both …
Antiabsence effects of carbenoxolone in two genetic animal models of absence epilepsy (WAG/Rij rats and lh/lh mice).
2005
Carbenoxolone (CBX), the succinyl ester of glycyrrhetinic acid, is an inhibitor of gap junctional intercellular communication. We have tested its possible effects upon two genetic animal models of epilepsy (WAG/Rij rats and lethargic (lh/lh) mice). Systemic administration of CBX was unable to significantly affect the occurrence of absence seizures in WAG/Rij rats. In particular, intravenous (5-40 mg/kg) or intraperitoneal (i.p.; 10-80 mg/kg) administration of CBX was unable to significantly modify the number and duration of spike-wave discharges (SWDs) in WAG/Rij rats, whereas the bilateral microinjection (0.05, 0.1, 0.5 and 1 microg/0.5 microl) of CBX into nucleus reticularis thalami (NRT)…
Linking Microstructural Integrity and Motor Cortex Excitability in Multiple Sclerosis
2021
Motor skills are frequently impaired in multiple sclerosis (MS) patients following grey and white matter damage with cortical excitability abnormalities. We applied advanced diffusion imaging with 3T magnetic resonance tomography for neurite orientation dispersion and density imaging (NODDI), as well as diffusion tensor imaging (DTI) in 50 MS patients and 49 age-matched healthy controls to quantify microstructural integrity of the motor system. To assess excitability, we determined resting motor thresholds using non-invasive transcranial magnetic stimulation. As measures of cognitive-motor performance, we conducted neuropsychological assessments including the Nine-Hole Peg Test, Trail Makin…
The contribution of acetylcholine and dopamine to subprocesses of visual working memory--what patients with amnestic mild cognitive impairment and Pa…
2014
Attentional selection, i.e. filtering out of irrelevant sensory input and information storage are two crucial components of working memory (WM). It has been proposed that the two processes are mediated by different neurotransmitters, namely acetylcholine for attentional selection and dopamine for memory storage. However, this hypothesis has been challenged by others, who for example linked a lack in dopamine levels in the brain to filtering deficits. Here we tested the above mentioned hypothesis in two patient cohorts which either served as a proxy for a cholinergic or a dopaminergic deficit. The first group comprised 18 patients with amnestic mild cognitive impairment (aMCI), the second 22…
Preoperative imaging findings in patients undergoing transcranial magnetic resonance imaging-guided focused ultrasound thalamotomy
2021
AbstractThe prevalence and impact of imaging findings detected during screening procedures in patients undergoing transcranial MR-guided Focused Ultrasound (tcMRgFUS) thalamotomy for functional neurological disorders has not been assessed yet. This study included 90 patients who fully completed clinical and neuroradiological screenings for tcMRgFUS in a single-center. The presence and location of preoperative imaging findings that could impact the treatment were recorded and classified in three different groups according to their relevance for the eligibility and treatment planning. Furthermore, tcMRgFUS treatments were reviewed to evaluate the number of transducer elements turned off after…
Regularity of Spike Trains and Harmony Perception in a Model of the Auditory System
2011
Spike train regularity of the noisy neural auditory system model under the influence of two sinusoidal signals with different frequencies is investigated. For the increasing ratio m/n of the input signal frequencies (m, n are natural numbers) the linear growth of the regularity is found at the fixed difference (m - n). It is shown that the spike train regularity in the model is high for harmonious chords of input tones and low for dissonant ones.
V1 non-linear properties emerge from local-to-global non-linear ICA
2006
It has been argued that the aim of non-linearities in different visual and auditory mechanisms may be to remove the relations between the coefficients of the signal after global linear ICA-like stages. Specifically, in Schwartz and Simoncelli (2001), it was shown that masking effects are reproduced by fitting the parameters of a particular non-linearity in order to remove the dependencies between the energy of wavelet coefficients. In this work, we present a different result that supports the same efficient encoding hypothesis. However, this result is more general because, instead of assuming any specific functional form for the non-linearity, we show that by using an unconstrained approach…