Search results for "modified"
showing 10 items of 585 documents
NDST1 missense mutations in autosomal recessive intellectual disability.
2014
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …
Effect of intraarterial papaverine or nimodipine on vessel diameter in patients with cerebral vasospasm after subarachnoid hemorrhage.
2012
Papaverine (P) and nimodipine (N) are the most widely used vasodilators when angiographic and symptomatic vasospasm is present after subarachnoid aneurysmatic hemorrhage (SAH). Their effect is only short-lived and no direct comparisons have been undertaken to evaluate the action of both substances directly. We retrospectively assessed the effect of either P or N on angiographic diameter reduction and capillary blood flow.Fifteen SAH patients with secured aneurysms and cerebral vasospasm received intraarterial P, fifteen similar patients received N. As the primary endpoint, pre- and post-infusion arterial diameters and capillary blood flow were rated retrospectively on angiographies and comp…
The keyhole concept in aneurysm surgery: results of the past 20 years.
2011
Item does not contain fulltext BACKGROUND: Improvements in preoperative imaging and intraoperative visualization have led to a refinement in surgical techniques. OBJECTIVE: Report of a 20-year experience with application of the keyhole technique as a contribution to the ongoing debate on the impact of limited craniotomies in aneurysm surgery. METHODS: Over a 20-year period, 1000 consecutive patients with 1297 aneurysms were surgically treated in 1062 operations: 651 in the acute stage after SAH and 411 with unruptured aneurysms. The outcome was assessed with the modified Rankin scale and approach-related complications. RESULTS: The majority of the cases were treated by 4 different keyhole a…
Artery occlusion independently predicts unfavorable outcome in cervical artery dissection
2020
ObjectiveTo assess the impact of dissected artery occlusion (DAO) on functional outcome and complications in patients with cervical artery dissection (CeAD).MethodsWe analyzed combined individual patient data from 3 multicenter cohorts of consecutive patients with CeAD (the Cervical Artery Dissection and Ischemic Stroke Patients [CADISP]–Plus consortium dataset). Patients with data on DAO and functional outcome were included. We compared patients with DAO to those without DAO. Primary outcome was favorable functional outcome (i.e., modified Rankin Scale [mRS] score 0–1) measured 3–6 months from baseline. Secondary outcomes included delayed cerebral ischemia, major hemorrhage, recurrent CeAD…
Monitoring cognitive changes: Psychometric properties of six cognitive tests
2004
Objectives. Repeated neuropsychological assessments are often used to monitor change in cognitive functioning over time. Thus, knowledge about the reliability and stability of neuropsychological tests and the effects of age and IQ is of paramount importance. In this study we document, for six cognitive tests: test-retest reliabilities, practice effects, reliable change (RC) indices corrected for practice, and the impact of premorbid IQ and age. Design. A sample of 188 normal adults (aged 40-70 years) were administered, on two occasions, one or more of the following tests: the Graded Naming Test (GNT), the Silhouettes Test, two tests of verbal fluency, the Modified Wisconsin Card Sorting Tes…
Acute symptomatic seizures in cerebral venous thrombosis
2020
© 2020 American Academy of Neurology
Telemedicine for the acute management of stroke in Burgundy, France: an evaluation of effectiveness and safety
2016
Background In the context of the development of telemedicine in France to address low thrombolysis rates and limited stroke infrastructures, a star-shaped telestroke network was implemented in Burgundy (1.6 million inhabitants). We evaluated the safety and effectiveness of this network for thrombolysis in acute ischemic stroke patients. Methods One hundred and thirty-two consecutive patients who received intravenous thrombolysis during a telemedicine procedure (2012–2014) and 222 consecutive patients who were treated at the stroke center of Dijon University Hospital, France (2011–2012) were included. Main outcomes were the modified Rankin scale (mRS) score and case fatality at 3 months. Com…
NfL (Neurofilament Light Chain) Levels as a Predictive Marker for Long-Term Outcome After Ischemic Stroke
2019
Background and Purpose— Ischemic stroke causes major disability as a consequence of neuronal loss and recurrent ischemic events. Biomarkers predicting tissue damage or stroke recurrence might be useful to guide an individualized stroke therapy. NfL (neurofilament light chain) is a promising biomarker that might be used for this purpose. Methods— We used individual data of patients with an acute ischemic stroke and clinical long term follow-up. Serum NfL (sNfL) was quantified within 24 hours after admission and after 1 year and compared with other biomarkers (GDF15 [growth differentiation factor 15], S100, NT-proBNP [N-terminal pro-B-type natriuretic peptide], ANP [atrial natriuretic peptid…
HSF1-controlled and age-associated chaperone capacity in neurons and muscle cells of C. elegans.
2010
Protein stability under changing conditions is of vital importance for the cell and under the control of a fine-tuned network of molecular chaperones. Aging and age-related neurodegenerative diseases are directly associated with enhanced protein instability. Employing C. elegans expressing GFP-tagged luciferase as a reporter for evaluation of protein stability we show that the chaperoning strategy of body wall muscle cells and neurons is significantly different and that both are differently affected by aging. Muscle cells of young worms are largely resistant to heat stress, which is directly mediated by the stress response controlled through Heat Shock Transcription Factor 1. During recover…
Towards a new mix design method for asphalt mixtures containing rap
2016
Recycling is one of the most important aspects to conceive the new construction or rehabilitation of sustainable road infrastructures. Even if Reclaimed Asphalt Pavement (RAP) is commonly used in the practice, its presence may lead to some critical aspects due to the physical and chemical phenomena occurring during the new mix process. For instance, the formation of RAP clusters during a new mix may inhibit the uniform distribution of the virgin binder as well as cause changes in the design grading curve of the mixture. Indeed, laboratory results demonstrate that small-size RAP particles stick together forming clusters. The amount of clusters depends on different parameters observed: The pe…