Search results for "ENCEPHALOPATHY"

Recurrent Encephalopathy Induced by Metformin in an Elderly Man

2015

Obstruktives Schlafapnoesyndrom durch eine berufliche Lösungsmittelexposition

2008

History and admission findings A 52-year-old man working in a chemical laboratory was referred with the possible diagnosis of toxic encephalopathy. For 17 years he had been exposed to high concentrations of perchlorethylene and n-butanol vapours which every day had caused acute symptoms of organic solvent intoxication. Current complaints were autonomic nervous system symptoms, loss of concentration and memory, and fatigue in the second half of the day. The patient was obese but in good general condition. Investigations Neuropsychiatric examination confirmed the reported loss of concentration and planning ability at work. The polysomnogram indicated an increased number of largely obstructive…

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

2021

ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals with complex phenotypes labelled ‘other’) were recruited over a 4-year period regardless of their age, gender, familial history and clinical framework. Individuals could have had prior genetic tests as long as it was not cES. cES was performed in a proband-only (60/67) or trio (7/67) st…

Functional and dysfunctional conformers of human neuroserpin characterized by optical spectroscopies and Molecular Dynamics

2015

Neuroserpin (NS) is a serine protease inhibitor (SERPIN) involved in different neurological pathologies, including the Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB), related to the aberrant polymerization of NS mutants. Here we present an in vitro and in silico characterization of native neuroserpin and its dysfunctional conformation isoforms: the proteolytically cleaved conformer, the inactive latent conformer, and the polymeric species. Based on circular dichroism and fluorescence spectroscopy, we present an experimental validation of the latent model and highlight the main structural features of the different conformers. In particular, emission spectra of aromatic res…

Infantile spasms—A multidisciplinary challenge

1987

Is it not surpnsmg that we are unaware of an earlier description of infantile spasms (IS) than that of Dr West from 1841 [1] , though this is hardly a new disease? May be, it needed an experienced observer to delineate these paroxysmal behavioral patterns against the background of abnormal psychomotor development. Up to now , we are by no means less puzzled by this manifestation of seizures than our professional forefather. It was only recently that we realized that the West syndrome consists not only of more or less typical serial seizures, usually a pathognomonic EEG pattern, and developmental arrest [2] , but has to be regarded as an encephalopathy [3-5] interfering with virtually all hi…

New Therapeutic Aspects in Fulminant Hepatic Failure

1991

Reversible posterior leukoencephalopathy syndrome in a patient with thrombotic thrombocytopenic purpura

2008

Radiographic Features with Pathological Correlation in Cerebral Amyloid Inflammatory Vasculopathy A Case Report

2014

Cerebral Amyloid Angiopathy (CAA) is characterized by deposit of β-amyloid protein in the cortical and leptomeningeal arteries. It tends to increase in prevalence with advancing age and seems to have slight predilection for temporal, parietal and occipital lobes. It has recently been identified an inflammatory form of this angiophaty. This report describes a case presenting as an inflammatory vasculitis-perivasculitis form successfully treated with steroids and discuss about typical features and findings of this condition.

Botulinum Toxin Is Effective in the Management of Neurogenic Dysphagia. Clinical-Electrophysiological Findings and Tips on Safety in Different Neurol…

2017

Background and Aims: Neurogenic dysphagia linked to failed relaxation of the upper esophageal sphincter (UES) can be treated by injecting botulinum toxin (BTX) into the cricopharyngeal (CP) muscle. We compared the effects of this treatment in different neurological disorders with dysphagia, to evaluate its efficacy over time including the response to a second injection. Materials and Methods: Sixty-seven patients with neurogenic dysphagia associated with incomplete or absent opening of the UES (24 with brainstem or hemispheric stroke, 21 with parkinsonian syndromes, 12 with multiple sclerosis, and 10 with spastic-dystonic syndromes secondary to post-traumatic encephalopathy) were treated wi…

Topiramate pharmacokinetics in neonates undergoing therapeutic hypothermia and proposal of an optimised dosing schedule.

2019

Aim The adequate dosing of topiramate in neonates undergoing therapeutic hypothermia has not been established. The aim of this study was to design a dosing schedule capable of providing topiramate serum concentrations within the accepted therapeutic range. Methods Neonates (n = 52) with hypoxic ischaemic encephalopathy and subjected to therapeutic hypothermia were dosed with topiramate, 5 mg/kg on day one and 3 mg/kg on days two to five, to decrease seizure events. A total of 451 topiramate serum concentrations obtained in the patients were used to develop a population pharmacokinetic model using a non-linear mixed-effects modelling approach. Results A one-compartment model with first-order…