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https://www.readbyqxmd.com/read/28644203/invasive-investigation-of-insular-cortex-epilepsy
#1
Philippe Ryvlin, Fabienne Picard
Invasive long-term EEG investigations of the insula have been performed since the mid-nineties in an expanding range of focal epilepsies suspected to involve the insular cortex. The various clinical forms of insular epilepsies were delineated during the last 2 decades, and include the following presentations: perisylvian epilepsy, temporal plus epilepsy, sleep hypermotor epilepsy, MRI-negative frontal and parietal lobe epilepsies, and insular lesions. In fact, a majority of complex stereoelectroencephalography procedures will include at least one electrode targeting the insula...
July 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28640947/clinico-molecular-analysis-of-eleven-patients-with-hermansky-pudlak-type-5-syndrome-a-mild-form-of-hps
#2
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo-Trujillo, Christian Hamel, Nursel H Elcioglu, Bart Leroy, Josseline Kaplan, Pierre-Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice-Picard, Benoit Arveiler
Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Here we report the clinical and genetic data of 11 HPS-5 patients analyzed in our laboratory...
June 22, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#3
Bastien Joubert, Florent Gobert, Laure Thomas, Margaux Saint-Martin, Virginie Desestret, Philippe Convers, Véronique Rogemond, Géraldine Picard, François Ducray, Dimitri Psimaras, Jean-Christophe Antoine, Jean-Yves Delattre, Jérôme Honnorat
OBJECTIVE: To report paroxysmal episodes of cerebellar ataxia in a patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-related autoimmune encephalitis and to search for similar paroxysmal ataxia in a cohort of patients with anti-CASPR2 antibody-associated autoimmune encephalitis. METHODS: We report a patient with paroxysmal episodes of cerebellar ataxia observed during autoimmune encephalitis with anti-CASPR2 antibodies. In addition, clinical analysis was performed in a retrospective cohort of 37 patients with anti-CASPR2 antibodies to search for transient episodes of ataxia...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28634647/erratum-to-training-guidelines-for-endovascular-stroke-intervention-an-international-multi-society-consensus-document
#4
S D Lavine, K Cockroft, B Hoh, N Bambakidis, A A Khalessi, H Woo, H Riina, A Siddiqui, J A Hirsch, W Chong, H Rice, J Wenderoth, P Mitchell, A Coulthard, T J Signh, C Phatouros, M Khangure, P Klurfan, K Ter Brugge, D Iancu, T Gunnarsson, O Jansen, M Muto, I Szikora, L Pierot, P Brouwer, J Gralla, S Renowden, T Andersson, J Fiehler, F Turjman, P White, A C Januel, L Spelle, Z Kulcsar, R Chapot, A Biondi, S Dima, C Taschner, M Szajner, A Krajina, N Sakai, Y Matsumaru, S Yoshimura, M Ezura, T Fujinaka, K Iihara, A Ishii, T Higashi, M Hirohata, A Hyodo, Y Ito, M Kawanishi, H Kiyosue, E Kobayashi, S Kobayashi, N Kuwayama, Y Matsumoto, S Miyachi, Y Murayama, I Nagata, I Nakahara, S Nemoto, Y Niimi, H Oishi, J Satomi, T Satow, K Sugiu, M Tanaka, T Terada, H Yamagami, O Diaz, P Lylyk, M V Jayaraman, A Patsalides, C D Gandhi, S K Lee, T Abruzzo, B Albani, S A Ansari, A S Arthur, B W Baxter, K R Bulsara, M Chen, J E Delgado Almandoz, J F Fraser, D V Heck, S W Hetts, M S Hussain, R P Klucznik, T M Leslie-Mawzi, W J Mack, R A McTaggart, P M Meyers, J Mocco, C J Prestigiacomo, G L Pride, P A Rasmussen, R M Starke, P J Sunenshine, R W Tarr, D F Frei, M Ribo, R G Nogueira, O O Zaidat, T Jovin, I Linfante, D Yavagal, D Liebeskind, R Novakovic, S Pongpech, G Rodesch, M Soderman, A Taylor, T Krings, D Orbach, L Picard, D C Suh, H Q Zhang
No abstract text is available yet for this article.
June 20, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28629746/severe-disease-and-greater-impairment-of-nf-%C3%AE%C2%BAb-activation-in-i%C3%AE%C2%BAba-point-mutants-versus-truncation-mutants-in-autosomal-dominant-anhidrotic-ectodermal-dysplasia-with-immune-deficiency
#5
Daniel Petersheim, Michel J Massaad, Saetbyul Lee, Alessia Scarselli, Caterina Cancrini, Kunihiko Moriya, Yoji Sasahara, Arjan C Lankester, Morna Dorsey, Daniela Di Giovanni, Liliana Bezrodnik, Hidenori Ohnishi, Ryuta Nishikomori, Kay Tanita, Hirokazu Kanegane, Tomohiro Morio, Erwin W Gelfand, Ashish Jain, Elizabeth Secord, Capucine Picard, Jean-Laurent Casanova, Michael H Albert, Troy R Torgerson, Raif S Geha
BACKGROUND: Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to S32 and S36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation, and thus activation of the canonical NF-κB pathway. The outcome of hematopoietic stem cell transplantation is poor in AD EDA-ID despite achievement of chimerism. Mice heterozygous for the S32I mutation in IκBα have impaired non-canonical NF-κB activity and defective lymphorganogenesis...
June 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28623225/high-peripheral-temperatures-in-king-penguins-while-resting-at-sea-thermoregulation-versus-fat-deposition
#6
Agnes Lewden, Manfred R Enstipp, Baptiste Picard, Tessa van Walsum, Yves Handrich
Marine endotherms living in cold water face an energetically challenging situation. Unless properly insulated these animals will lose heat rapidly. The field metabolic rate of king penguins at sea is about twice that on land. However, when at sea, their metabolic rate is higher during extended resting periods at the surface than during foraging, when birds descend to great depth in pursuit of their prey. This is most likely explained by differences in thermal status. During foraging peripheral vasoconstriction leads to a hypothermic shell, which is rewarmed during extended resting bouts at the surface...
June 16, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28622993/polycyclic-aromatic-hydrocarbons-pahs-in-traditionally-harvested-bivalves-in-northern-british-columbia-canada
#7
Kim-Ly Thompson, Chris R Picard, Hing Man Chan
Butter clams, blue mussels, and Nuttall's cockle are important traditional food of the Gitga'at First Nation in Canada. Samples were collected and analyzed for polycyclic aromatic hydrocarbon (PAH) from the Gitga'at harvest sites from 2006 to 2015 to: 1) establish baseline conditions; 2) determine the likely source; 3) understand species specific response to spills; and 4) evaluate health risk associated with consumption. Baseline lipid normalized-total PAH in mussels was 2.36 (±2.86, 95%CI) μg/g in mussels, 3...
June 13, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28622069/spontaneous-coronary-artery-dissection-in-a-woman-with-a-past-medical-history-of-subarachnoid-hemorrhage-a-case-report
#8
Jean Bardon, Fabien Picard, Franck Barbou, Olivier Varenne, Benoît Vivien
Spontaneous coronary artery dissection (SCAD) is an uncommon disease. We report the case of a 50 year-old woman with a past medical history of aneurysmal subarachnoid hemorrhage, presenting with acute chest pain and diffuse ST segment elevation on ECG. Coronary angiogram revealed a SCAD of the left anterior descending coronary artery. The association between cerebral aneurysms and SCAD should trigger providers concern for fibromuscular dysplasia. We hereby report on a rare and atypical case involving the relationship between fibromuscular dysplasia and SCAD...
June 16, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28620088/the-r148-3-gene-modulates-caenorhabditis-elegans-lifespan-and-fat-metabolism
#9
Catherine Roy-Bellavance, Jennifer M Grants, Stéphanie Miard, Kayoung Lee, Évelyne Rondeau, Chantal Guillemette, Martin J Simard, Stefan Taubert, Frédéric Picard
Despite many advances, the molecular links between energy metabolism and longevity are not well understood. Here, we have used the nematode model Caenorhabditis elegans to study the role of the yet uncharacterized gene R148.3 in fat accumulation and lifespan. In wild-type worms, a R148.3p::GFP reporter showed enhanced expression throughout life in the pharynx, in neurons, and in muscles. Functionally, a protein fusing a predicted 22 aa N-terminal signal sequence (SS) of R148.3 to mCherry displayed robust accumulation in coelomyocytes, indicating that R148...
June 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28619848/red-blood-cell-gardos-channel-kcnn4-the-essential-determinant-of-erythrocyte-dehydration-in-hereditary-xerocytosis
#10
Raphaël Rapetti-Mauss, Véronique Picard, Corinne Guitton, Khaldoun Ghazal, Valérie Proulle, Catherine Badens, Olivier Soriani, Loïc Garçon, Hélène Guizouarn
No abstract text is available yet for this article.
June 15, 2017: Haematologica
https://www.readbyqxmd.com/read/28607474/irregular-sleep-wake-patterns-are-associated-with-poorer-academic-performance-and-delayed-circadian-and-sleep-wake-timing
#11
Andrew J K Phillips, William M Clerx, Conor S O'Brien, Akane Sano, Laura K Barger, Rosalind W Picard, Steven W Lockley, Elizabeth B Klerman, Charles A Czeisler
The association of irregular sleep schedules with circadian timing and academic performance has not been systematically examined. We studied 61 undergraduates for 30 days using sleep diaries, and quantified sleep regularity using a novel metric, the sleep regularity index (SRI). In the most and least regular quintiles, circadian phase and light exposure were assessed using salivary dim-light melatonin onset (DLMO) and wrist-worn photometry, respectively. DLMO occurred later (00:08 ± 1:54 vs. 21:32 ± 1:48; p < 0...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28600996/lower-limb-alignment-and-laxity-measures-before-during-and-after-total-knee-arthroplasty-a-prospective-cohort-study
#12
Jon V Clarke, Angela H Deakin, Frederic Picard, Philip E Riches
BACKGROUND: This study compared knee alignment and laxity in patients before, during and after total knee arthroplasty, using methodologically similar procedures, with an aim to help inform pre-operative planning. METHODS: Eighteen male and 13 female patients were recruited, mean age 66years (51-82) and mean body mass index of 33 (23-43). All were assessed pre- and postoperatively using a non-invasive infrared position capture system and all underwent total knee arthroplasty using a navigation system...
May 26, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28597146/human-i%C3%AE%C2%BAb%C3%AE-gain-of-function-a-severe-and-syndromic-immunodeficiency
#13
REVIEW
Bertrand Boisson, Anne Puel, Capucine Picard, Jean-Laurent Casanova
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent degradation. The mutation certainly or probably occurred de novo in 13 patients, whereas it was inherited from a parent with somatic mosaicism in one patient...
June 9, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28596490/a-genetic-polymorphism-repurposes-the-g-protein-coupled-and-membrane-associated-estrogen-receptor-gper-to-a-transcription-factor-like-molecule-promoting-paracrine-signaling-between-stroma-and-breast-carcinoma-cells
#14
Marco Pupo, Alexandre Bodmer, Melissa Berto, Marcello Maggiolini, Pierre-Yves Dietrich, Didier Picard
GPER is a membrane-associated estrogen receptor of the family of G-protein coupled receptors. For breast cancer, the contribution of GPER to promoting the proliferation and migration of both carcinoma cells and cancer-associated fibroblasts (CAFs) in response to estrogen and other agonists has extensively been investigated. Intriguingly, GPER was previously found to be localized to the nucleus in one isolate of breast CAFs. Moreover, this nuclear GPER was shown to bind regulatory sequences of cancer-relevant target genes and to induce their expression...
May 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28592915/activated-platelets-induce-an-anti-inflammatory-response-of-monocytes-macrophages-through-cross-regulation-of-pge2-and-cytokines
#15
Bona Linke, Yannick Schreiber, Bettina Picard-Willems, Patrick Slattery, Rolf M Nüsing, Sebastian Harder, Gerd Geisslinger, Klaus Scholich
Platelets are well known for their role in hemostasis and are also increasingly recognized for their roles in the innate immune system during inflammation and their regulation of macrophage activation. Here, we aimed to study the influence of platelets on the production of inflammatory mediators by monocytes and macrophages. Analyzing cocultures of platelets and murine bone marrow-derived macrophages or human monocytes, we found that collagen-activated platelets release high amounts of prostaglandin E2 (PGE2) that leads to an increased interleukin- (IL-) 10 release and a decreased tumor necrosis factor (TNF) α secretion out of the monocytes or macrophages...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28592659/mitochondrial-dna-3243a-g-heteroplasmy-is-associated-with-changes-in-cytoskeletal-protein-expression-and-cell-mechanics
#16
Judith Kandel, Martin Picard, Douglas C Wallace, David M Eckmann
Mitochondrial and mechanical alterations in cells have both been shown to be hallmarks of human disease. However, little research has endeavoured to establish connections between these two essential features of cells in both functional and dysfunctional situations. In this work, we hypothesized that a specific genetic alteration in mitochondrial function known to cause human disease would trigger changes in cell mechanics. Using a previously characterized set of mitochondrial cybrid cell lines, we examined the relationship between heteroplasmy for the mitochondrial DNA (mtDNA) 3243A>G mutation, the cell cytoskeleton, and resulting cellular mechanical properties...
June 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28585460/assessment-of-knee-alignment-with-varus-and-valgus-force-through-the-range-of-flexion-with-non-invasive-navigation
#17
F Henderson, R Alho, P Riches, F Picard
In image-free total knee arthroplasty (TKA) navigation, infra-red markers are attached to bony landmarks to provide kinematic data intra-operatively, with the aim of improving the precision of implant placement. In non-invasive navigation, infra-red markers are attached to the skin surface, with recent evidence suggesting that this can give repeatable measurements of lower limb mechanical alignment. The aim of our study was to evaluate the use of a non-invasive navigation system in the assessment of mechanical alignment with applied coronal force through the range of flexion...
June 6, 2017: Journal of Medical Engineering & Technology
https://www.readbyqxmd.com/read/28585352/a-rab27a-duplication-in-several-cases-of-griscelli-syndrome-type-2-an-explanation-for-cases-lacking-a-genetic-diagnosis
#18
Virginie Grandin, Fernando E Sepulveda, Nathalie Lambert, Mofareh Al Zahrani, Eman Al Idrissi, Hamoud Al-Mousa, Fahd Almanjomi, Abdulaziz Al-Ghonaium, Murad K Habazi, Hamza A Alghamdi, Capucine Picard, Christine Bole-Feysot, Patrick Nitschke, Gael Ménasché, Geneviève de Saint Basile
Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic pigment accumulation and clumping in the hair shaft. Loss-of function mutations in RAB27A, resulting from point mutations, short indel or large deletions, account for all the cases reported to date. However, several GS2 cases originating from Saudi Arabia lack a genetic diagnosis. Here, we report on a new RAB27A genetic anomaly, observed in seven Saudi Arabia families that had remained negative after extensive molecular genomic DNA testing...
June 6, 2017: Human Mutation
https://www.readbyqxmd.com/read/28581635/targeted-unlabeled-mrm-analysis-of-cell-markers-for-the-study-of-sample-heterogeneity-in-isolated-rat-brain-cortical-microvessels
#19
David Gomez-Zepeda, Catarina Chaves, Meryam Taghi, Philippe Sergent, Wang-Qing Liu, Cerina Chhuon, Michel Vidal, Martin Picard, Elizabeth Thioulouse, Isabelle Broutin, Ida-Chiara Guerrera, Jean-Michel Scherrmann, Yannick Parmentier, Xavier Decleves, Marie-Claude Menet
LC-MS/MS-based targeted absolute protein quantification (in fmol of the analyte protein per μg of total protein) is employed for the molecular characterization of the blood brain barrier (BBB) using isolated brain microvessels. Nevertheless, the heterogeneity of the sample regarding the levels of different cells co-isolated within the microvessels and BSA contamination (from buffers) are not always evaluated. We developed an unlabeled targeted LC-MS/MS method to survey the levels of endothelial cells (ECs), astrocytes and pericytes, as well as BSA contaminant in rat cortical microvessels...
June 5, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28576462/platelet-rich-plasma-enriched-autologous-fat-graft-in-regenerative-and-aesthetic-facial-surgery-technical-note
#20
F Picard, B Hersant, S La Padula, J-P Meningaud
The goal of adding platelet-rich plasma (PRP) to autologous fat graft is to increase the survival rate of the graft. After their activation, platelets release some important growth factors. As a result, PRP may increase the proliferation and differentiation of Adipose-derived stem cells (ASCs) into adipocytes, improve fat graft vascularisation, and may block the apoptosis of grafted adipocytes. The other benefit expected from the addition of PRP to fat graft is the improvement of cutaneous trophicity above the grafted areas...
May 30, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
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