X-linked Familial Focal Epilepsy Associated with Xp22.31 Deletion
The genetic basis for familial focal epilepsy is poorly understood, with most of the known genetic causes occurring via autosomal dominant inheritance. X-linked familial focal epilepsy has not been previously reported. (Source: Pediatric Neurology)
Source: Pediatric Neurology - March 10, 2020 Category: Neurology Authors: Kenneth A. Myers, Elisabeth Simard-Tremblay, Christine Saint-Martin Tags: Short Communication Source Type: research
Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy
Publication date: April 2020Source: Epilepsy & Behavior, Volume 105Author(s): Kristine Lossius, Anne de Saint Martin, Sverre Myren-Svelstad, Marit Bjørnvold, Guro Minken, Caroline Seegmuller, Maria Paola Valenti Hirsch, Jamel Chelly, Ortrud Steinlein, Fabienne Picard, Eylert BrodtkorbAbstractObjectiveAutosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by hypermotor seizures and may be caused by gain-of-function mutations affecting the nicotinic acetylcholine receptor (nAChR). Benefit from nicotine consumption has been reported in adult patients with this disorder. For the first time, the effect o...
Source: Epilepsy and Behavior - February 22, 2020 Category: Neurology Source Type: research
Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.
Abstract
OBJECTIVE: Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by hypermotor seizures and may be caused by gain-of-function mutations affecting the nicotinic acetylcholine receptor (nAChR). Benefit from nicotine consumption has been reported in adult patients with this disorder. For the first time, the effect of transdermal nicotine is evaluated in children.
METHODS: Transdermal nicotine was applied to three boys, two aged 10 years (7 mg/24 h) and one six years (3.5 mg/24 h). Autosomal dominant sleep-related hypermotor epilepsy was caused by the p.S280F-...
Source: Epilepsy and Behaviour - February 21, 2020 Category: Neurology Authors: Lossius K, de Saint Martin A, Myren-Svelstad S, Bjørnvold M, Minken G, Seegmuller C, Valenti Hirsch MP, Chelly J, Steinlein O, Picard F, Brodtkorb E Tags: Epilepsy Behav Source Type: research
[First isolation of Leptospira borgpetersenii serovar Hardjo type Hardjo Bovis from a clinical case in cattle in Argentina].
Authors: Koval AA, Brihuega BF, Grune Loffler S, López S, Saint Martin M, Lagioia GG, Insaugarat JR
Abstract
We here describe the first isolation and molecular typing of Leptospira borgpetersenii serovar Hardjo Bovis in Argentina, obtained from urine of aborted cows from a breeding herd located in Saladillo, Buenos Aires Province. The abortions occurred in coincidence with important floods with many cows presenting suspicious serological titers and subsequent seroconversion. The percentage of abortions was 3.5% of a herd of 1700 cows and the microorganism was isolated from 7 of the 20 urine samples obtain...
Source: Revista Argentina de Microbiologia - February 6, 2020 Category: Microbiology Tags: Rev Argent Microbiol Source Type: research
Paleoparasitology of Merovingian Corpses Buried in Stone Sarcophagi in the Saint-Martin-au-Val Church (Chartres, France).
Authors: Dufour B, Portat E, Bazin B, Bailly ML
Abstract
Paleoparasitological analysis was carried on 4 Merovingian skeletons, dated from the late-5th to the late-9th centuries, and recovered in the church of Saint-Martin-au-Val in Chartres (Center region, France). The corpses were buried in stone sarcophagi, which were still sealed at the time of excavation. Parasite marker extraction was conducted on sediment samples taken from the abdominal and pelvic regions, but also on samples taken from under the head and the feet as control samples. Microscopic observation revealed the presence of 3 gastrointestina...
Source: Korean Journal of Parasitology - January 9, 2020 Category: Parasitology Tags: Korean J Parasitol Source Type: research
Thanatobiochemistry: its contribution to the diagnosis of hypothermia fatalities.
Abstract
Hypothermia is a potentially lethal pathology whose in vivo diagnosis is relatively easy, based on the observation of a body temperature below 35̊C. However, its post mortem diagnosis is much more complex because of a thermal decrease occurring systematically after the death, which renders most often uninterpretable the body temperature as a diagnostic argument for hypothermia. Moreover, none of the macroscopic or microscopic autopsy elements described as suspicious of hypothermia are pathognomonic of a hypothermic death. Currently, this diagnosis arises in the light of an association of concorda...
Source: Annales de Biologie Clinique - October 20, 2019 Category: Biochemistry Authors: Rousseau G, Rougé-Maillart C, Alarcan H, Drevin G, Gaconnet A, Reynier P, Saint-Martin P, Rérolle C Tags: Ann Biol Clin (Paris) Source Type: research
[ASAP] Study of the Elusive Hydration of Pb < sup > 2+ < /sup > from the Gas Phase to the Liquid Aqueous Solution: Modeling the Hemidirected Solvation with a Polarizable MCDHO Force-Field
The Journal of Physical Chemistry BDOI: 10.1021/acs.jpcb.9b04541 (Source: Journal of Physical Chemistry B)
Source: Journal of Physical Chemistry B - October 18, 2019 Category: Chemistry Authors: C. I. Leo ´n-Pimentel*, M. Marti´nez-Jime´nez, and H. Saint-Martin Source Type: research
Quantification of apparent axon density and orientation dispersion in the white matter of youth born with congenital heart disease
ConclusionLower apparent density of axonal packing, but not altered axonal orientation, is a key microstructural factor in the white matter abnormalities observed in youth born with CHD. These impairments in axonal packing may be an enduring consequence of early life brain injury and dysmaturation and may explain some of the long-term neuropsychological difficulties experienced by this at-risk group. (Source: NeuroImage)
Source: NeuroImage - October 13, 2019 Category: Neuroscience Source Type: research
[Differences between hypertension in Metropolitan France compared to Overseas France Departments and Regions (DOM-ROM)].
CONCLUSIONS: There are differences between France Overseas Regions and Territories (DOM-ROMs) and Metropolitan France in terms of the prevalence, knowledge, treatment and control of hypertension, and these vary according to sex. For men, the prevalence and treatment of hypertension differ very little when considering a population of workers or employees in both regions. On the other hand, for women, the prevalence of hypertension is higher in the French Antilles-Guiana. This difference is not fully explained by the higher prevalence of obesity observed among female employees in the French Antilles-Guiana. For these patient...
Source: Annales de Cardiologie et d'Angeiologie - September 24, 2019 Category: Cardiology Authors: Atallah A, Carrère P, Atallah V, Inamo J Tags: Ann Cardiol Angeiol (Paris) Source Type: research
Questionnaire-Based Prevalence of Physical Activity Level on Adults According to Different International Guidelines: Impact on Surveillance and Policies.
CONCLUSION: Prevalence estimates and agreement between different PA recommendations were significantly affected when a minimum frequency was required but did not change when vigorous PA minutes were doubled.
PMID: 31454782 [PubMed - as supplied by publisher] (Source: Journal of Physical Activity and Health)
Source: Journal of Physical Activity and Health - August 29, 2019 Category: Sports Medicine Tags: J Phys Act Health Source Type: research
Differences within the same healthcare system between hypertension in Metropolitan France compared to Overseas France Departments and Regions (DOM-ROM)
ConclusionsThere are differences between France Overseas Regions and Territories (DOM-ROMs) and Metropolitan France in terms of the prevalence, knowledge, treatment and control of hypertension, and these vary according to sex. For men, the prevalence and treatment of hypertension differ very little when considering a population of workers or employees in both regions. On the other hand, for women, the prevalence of hypertension is higher in the French Antilles-Guiana. This difference is not fully explained by the higher prevalence of obesity observed among female employees in the French Antilles-Guiana. For these patients,...
Source: Archives of Cardiovascular Diseases Supplements - July 24, 2019 Category: Cardiology Source Type: research
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis
Monogenic diabetes (MgD) accounts for 1 –2% of all diabetes cases. In adults, MgD is difficult to distinguish from common diabetes causes. We assessed the diagnosis rate and genetic spectrum of MgD using next-g... (Source: BMC Medicine)
Source: BMC Medicine - July 11, 2019 Category: Internal Medicine Authors: Xavier Donath, C écile Saint-Martin, Danièle Dubois-Laforgue, Ramanan Rajasingham, François Mifsud, Cécile Ciangura, José Timsit and Christine Bellanné-Chantelot Tags: Research article Source Type: research
Effect of alkali cations on the photomagnetic behavior of CoFe Prussian blue analogue nanoparticles embedded in ordered mesoporous silica
Publication date: Available online 5 July 2019Source: Comptes Rendus ChimieAuthor(s): Laura Altenschmidt, Giulia Fornasieri, Eric Rivière, François Brisset, Romuald Saint-Martin, Anne BleuzenAbstractThe size of CoFe Prussian blue analogue nanoparticles containing either rubidium or cesium cations was controlled by their formation through a nucleation process inside the calibrated pores of an ordered mesoporous silica matrix. The corresponding references were synthesized in powder form using the same ratio between the metal species in the reaction solution. The obtained samples were characterized via infrared (IR) spectro...
Source: Comptes Rendus Chimie - July 5, 2019 Category: Chemistry Source Type: research
Hyperacute Infarct on intra-operative diffusion imaging of pediatric brain tumor surgery.
CONCLUSIONS: Hyperacute infarcts are not rare events to complicate pediatric brain tumor resection. Tumoral encasement of the circle of Willis vessels appears to be the main risk factor. Intraoperative DWI underestimates the final extent of infarcted tissue compared to early post-surgical MRI.
PMID: 31179961 [PubMed - as supplied by publisher] (Source: The Canadian Journal of Neurological Sciences)
Source: The Canadian Journal of Neurological Sciences - June 9, 2019 Category: Neurology Authors: Saint-Martin C, Apuzzo S, Salman A, Farmer JP Tags: Can J Neurol Sci Source Type: research
