Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology ...(acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.
30% of the patients suffering from hyperoxaluria type 1 are diagnosed only when they already had reached end-stage renal disease. We report the case of a 57-year-old woman with history of chronic ...kidney failure presenting with paraplegia due to spinal cord compression by thoracic mass-like lesions. Bone biopsy specimen obtained by decompressive laminectomy revealed calcium oxalate deposits. Once diagnosis of primary hyperoxaluria was confirmed, she underwent haemodialysis with incomplete improvement of her neurological disorders and was registered on the waiting list for transplantation.
Purpose: Language‐induced epilepsy involves seizure precipitation by speaking, reading, and writing. Seizures are similar to those of reading epilepsy (RE). The nosologic position of language‐induced ...epilepsy is not clear. We performed a clinical and neurophysiological study in a multigenerational family with the association of idiopathic generalized epilepsy (IGE) with ictal stuttering as a manifestation of reflex language‐induced epilepsy.
Methods: Nine members on three generations were studied. All patients underwent video‐polygraphic EEG recordings (awake and during sleep). A standardized protocol was applied to test the effect of language and non–language‐related tasks.
Results: Six patients presented language‐induced jaw jerking that mimicked stuttering and corresponded to focal myoclonus involving facial muscles. This was associated with an IGE phenotype in four of these patients. Focal EEG spikes were found in all six patients by visual analysis and/or back‐averaging techniques. The focal spikes were either asymptomatic (when followed by a slow wave) or symptomatic of facial myoclonia (when isolated). Levetiracetam, used as add‐on or monotherapy in four patients, suppressed ictal stuttering. One additional case only had a phenotype of IGE without focal features.
Conclusions: This family study demonstrates the phenotypic heterogeneity of the association of IGE phenotype with ictal stuttering (language‐related reflex seizure). Our data suggest that this particular form of reflex epilepsy related to language has more similarities with generalized epilepsies than with focal ones. Neurophysiological investigations should be performed more systematically in patients with acquired stuttering, especially if there is family history of IGE.
A molecular approach was used to analyse a focus of cercarial dermatitis in northeastern France (Lake Der-Chantecoq), including both cercariae and snails,by sequencing the internal transcribed ...spacers (ITS1 for ocellate furcocercariae and ITS2 for snails). Lymnaea stagnalis were found infected with the furcocercariae of Trichobilharzia szidati, and T. franki furcocercariae were found in Radix auricularia. The record of these two visceral parasites of birds in northern France confirms strong host-parasite relationships. The use of these standardised markers will be of the highest significance for our understanding of the epidemiology of cercarial dermatitis in this recreational lake.
•In a multicentric cohort of 59 patients suffering from severe COVID-19, ASL perfusion was abnormal in 53, hypoperfusion occurred in 48 (with a predominant fronto-temporo-polar pattern), whereas ...hyperperfusion occurred in 9.•Post-contrast FLAIR leptomeningeal enhancement was the only parameter with a significant association with cerebral perfusion, as it was tightly linked to hyperperfusion.•Frontotemporal hypoperfusion was also found in quantitative subgroup analysis compared to healthy subjects.
Cerebral hypoperfusion has been reported in patients with COVID-19 and neurological manifestations in small cohorts. We aimed to systematically assess changes in cerebral perfusion in a cohort of 59 of these patients, with or without abnormalities on morphological MRI sequences.
Patients with biologically-confirmed COVID-19 and neurological manifestations undergoing a brain MRI with technically adequate arterial spin labeling (ASL) perfusion were included in this retrospective multicenter study. ASL maps were jointly reviewed by two readers blinded to clinical data. They assessed abnormal perfusion in four regions of interest in each brain hemisphere: frontal lobe, parietal lobe, posterior temporal lobe, and temporal pole extended to the amygdalo-hippocampal complex.
Fifty-nine patients (44 men (75%), mean age 61.2 years) were included. Most patients had a severe COVID-19, 57 (97%) needed oxygen therapy and 43 (73%) were hospitalized in intensive care unit at the time of MRI. Morphological brain MRI was abnormal in 44 (75%) patients. ASL perfusion was abnormal in 53 (90%) patients, and particularly in all patients with normal morphological MRI. Hypoperfusion occurred in 48 (81%) patients, mostly in temporal poles (52 (44%)) and frontal lobes (40 (34%)). Hyperperfusion occurred in 9 (15%) patients and was closely associated with post-contrast FLAIR leptomeningeal enhancement (100% 66.4%-100% of hyperperfusion with enhancement versus 28.6% 16.6%-43.2% without, p = 0.002). Studied clinical parameters (especially sedation) and other morphological MRI anomalies had no significant impact on perfusion anomalies.
Brain ASL perfusion showed hypoperfusion in more than 80% of patients with severe COVID-19, with or without visible lesion on conventional MRI abnormalities.
Ne pas sous-estimer les difficultés que peuvent rencontrer les bibliothécaires à traiter des informations et des collections relatives aux questions de genre en bibliothèque, tel est l’objectif de ce ...premier volet qui propose aussi des leviers d’action dans les trois domaines suivants : l’information mise à disposition sur les sites web de bibliothèques (à travers une étude de cas conduite dans le Tennessee), l’acquisition et la valorisation de la fiction LGBT auprès des enfants et des jeunes...
Introduction Agié-Carré, Sophie; Légothèque
12/2017
Book Chapter
Odprti dostop
Imaginé à Singapour en août 2013, le groupe d’intérêt spécial (GIS) consacré aux publics LGBTQ tient sa première conférence un an plus tard à Lyon, qui accueille alors le congrès de l’International ...Federation of Library Associations and Institutions (IFLA, Fédération internationale des associations et institutions de bibliothèques). Le titre de cette première allocution, éloquent s’il en est – Faire face au silence : comment les bibliothèques peuvent servir les usagers LGBTQ – témoigne d’une ...
Être bibliothécaire et servir les publics LGBT se réalise diversement selon les régions du monde, en fonction notamment des législations en vigueur. Notre corpus de neuf conférences donne un aperçu ...de ces différences à travers cinq zones géographiques : le Brésil, la Suède, le Tennessee (États- Unis), la Hongrie, l’Ouganda. Cartographie des législations en vigueur (mai 2017) http://ilga.org/ Brésil Brésil, par Eduardo da Silva Alentejo, extrait de la conférence n° 4, p. 139 Fiche juridique ...
Plus que toute autre institution, les bibliothèques constituent un lieu ressource sans équivalent pour les personnes LGBT en recherche d’informations et/ou d’espaces sécurisants : trois conférences ...constituent ce deuxième volet insistant en particulier sur l’acuité du besoin de bibliothèque autant pour les jeunes LGBT sans-abri, plus souvent que les autres en rupture familiale, que pour les familles arc-en-ciel qui incarnent une modalité de composition familiale encore peu représentée dans l’...
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