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Ingo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, Karl Martin Klein, David Dyment, Courtney Thaxton, Bekim Sadikovic, Tristan T Sands, Jacy L Wagnon, Khalida Liaquat, Maria Roberta Cilio, Ghayda Mirzaa, Kristen Park, Erika Axeen, Elizabeth Butler, Tanya M Bardakjian, Pasquale Striano, Annapurna Poduri, Rebecca K Siegert, Andrew R Grant, Katherine L Helbig, Heather C Mefford
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two increasingly separate fields: the domain of traditional clinical epileptology, with its own established language and classification criteria, and the rapidly evolving area of diagnostic genetic testing that adheres to formal criteria for gene and variant curation...
November 2018: Human Mutation
Lindsey M Christman, Lisa L Dean, Camilla Bueno Almeida, Jacy R Weissburg
Peanut skins are a low-value byproduct of the peanut processing industry. Following their removal during the preparation of common peanut products, they are either discarded or used as a minor component of animal feed. Studies have found peanuts skins to be rich in health promoting phenolic compounds and thus have potential as a functional food ingredient. The aim of this study was to evaluate a new product that included the encapsulated phenolic extract from peanut skins in a flavored coating for peanuts. The phenolic compounds were extracted from peanut skins and then encapsulated in 10...
October 2018: Journal of Food Science
Jacie L Shuman, David J Coughlin
Climate change affects the thermal environment of aquatic organisms. Changes in the thermal environment may affect muscle function in the eurythermal rainbow smelt, Osmerus mordax, and relatively more stenothermal rainbow trout, Oncorhynchus mykiss. Literature suggests that the trout will be more sensitive to changes in environmental temperature, as they experience a more limited range of environmental temperatures. To examine the effects of thermal environment on red muscle function, both the smelt and trout were thermally acclimated to either a warm (12-15°C) or cold (4-5°C) temperature, after which studies of swimming performance and muscle mechanics were performed...
August 12, 2018: Journal of Experimental Zoology. Part A, Ecological and Integrative Physiology
Meltem Kurt Yüksel, Osman İlhan
Hematopoietic Stem Cell Transplantation (HSCT) is a well estabished treatment modality for patients with severe disorders of the hematopoietic system. HSCT is the pioneer of not the adoptive immunotherapy but also cellular therapies. It was first performed in 1957; since then the transplantation numbers have increased every year in almost all parts of the World. However, the increase in the quality of this procedure was not as fast as the numbers. The first Standards for hematopoeietic cell collection, processing and transplantation in Europe was established in 1998 by the European Group for Bone Marrow Transplantation (EBMT) and The International Society for Hematotherapy and Graft Engineering Europe I (SHAGE Europe) and the Joint Accreditation Committee of ISCT EBMT (JACIE) was founded...
April 2018: Transfusion and Apheresis Science
Erin M Baker, Christopher H Thompson, Nicole A Hawkins, Jacy L Wagnon, Eric R Wengert, Manoj K Patel, Alfred L George, Miriam H Meisler, Jennifer A Kearney
OBJECTIVE: De novo mutations of SCN8A, encoding the voltage-gated sodium channel NaV 1.6, have been associated with a severe infant onset epileptic encephalopathy. Individuals with SCN8A encephalopathy have a mean age of seizure onset of 4-5 months, with multiple seizure types that are often refractory to treatment with available drugs. Anecdotal reports suggest that high-dose phenytoin is effective for some patients, but there are associated adverse effects and potential for toxicity...
June 2018: Epilepsia
Jacy L Wagnon, Niccolò E Mencacci, Bryan S Barker, Eric R Wengert, Kailash P Bhatia, Bettina Balint, Miryam Carecchio, Nicholas W Wood, Manoj K Patel, Miriam H Meisler
Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain-of-function mutations that alter the biophysical properties of the channel. Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. We now report a novel heterozygous SCN8A variant, p.Pro1719Arg, in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment...
July 2018: Human Mutation
Jacy L Young, Brianne M Collins
This commentary addresses a recent special section on psychobiography that appeared in the pages of the July-August 2017 American Psychologist . The claims made by the authors of these articles raise a number of serious ethical, scientific, and historical concerns about psychobiography. These concerns include the potential public harm from the indiscriminate analysis of public figures; the inherent problem of publicly analyzing individuals without their participation or consent; overly deterministic conclusions of such analyses; difficulties analyzing figures from a distance and in retrospect; the impossibility of validating psychological theories through singular accounts; the presumption that psychological knowledge is ahistorical; the highly selective nature of psychobiography; and a focus on largely White, male figures as historically significant...
April 2018: American Psychologist
Casey S O'Neil, Jacie L Beach, Todd D Gruber
DNA gel electrophoresis is a standard tool of biochemistry and molecular biology laboratories. The common dye ethidium bromide suffers from toxicity concerns and requires the use of damaging ultraviolet light. We observe that exposing plasmid DNA to a UV transilluminator for only 1 s results in detectable loss of colonies following transformation, suggesting rapid accumulation of DNA damage. SYBR Safe, a commercial product, is marketed as a safe alternative to ethidium bromide and has excellent sensitivity with nondamaging blue light, but suffers from prohibitively high costs...
June 2018: Electrophoresis
Gabriel Shimizu Bassi, Luis Ulloa, Victor Rodrigues Santos, Flávio Del Vecchio, Polianna Delfino-Pereira, Gerson Jhonatan Rodrigues, Jaci Airton Castania, Fernando de Queiróz Cunha, Hélio Cesar Salgado, Thiago Mattar Cunha, Norberto Garcia-Cairasco, Alexandre Kanashiro
The neuronal control of the immune system is fundamental to the development of new therapeutic strategies for inflammatory disorders. Recent studies reported that afferent vagal stimulation attenuates peripheral inflammation by activating specific sympathetic central and peripheral networks, but only few subcortical brain areas were investigated. In the present study, we report that afferent vagal stimulation also activates specific cortical areas, as the parietal and cingulate cortex. Since these cortical structures innervate sympathetic-related areas, we investigate whether electrical stimulation of parietal cortex can attenuate knee joint inflammation in non-anesthetized rats...
June 8, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Patricia Ramos, Maria Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, Maria Juliana Ballesta-Martínez, Maria Jose Sanchez-Soler, Richard James Holt, Lisa Cooper-Charles, Jonathan Bruty, Yvonne Wallis, Dominic McMullan, Jonathan Hoffman, David Bunyan, Alison Stewart, Helen Stewart, Katherine Lachlan, Alan Fryer, Victoria McKay, Joëlle Roume, Pascal Dureau, Anand Saggar, Michael Griffiths, Patrick Calvas, Carmen Ayuso, Marta Corton, Nicola K Ragge
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p...
February 20, 2018: Human Genetics
Jacy B Parmera, Sonia Brucki, Ricardo Nitrini
No abstract text is available yet for this article.
February 6, 2018: Neurology
H Ozdogu, C Boga, M Yeral, I Kozanoglu, C Gereklioglu, P Aytan, M Kasar, S Asma, N Buyukkurt, S Solmaz, A Korur, C Sariturk
Adult patients with sickle cell disease (SCD) are highly susceptible to stem cell transplant complications, including drug toxicity, graft versus host disease (GVHD), and graft rejection due to SCD-related tissue damage, endothelial activation, and inflammation. The scarcity of compatible stem cells for transplantation further limits treatment options, with only 43 cases of adult allogeneic peripheral blood stem cell transplantation (allo-PSCT) from human leukocyte antigen (HLA)-identical sibling donors reported in the international registry for the period 1986-2013...
July 2018: Bone Marrow Transplantation
Breno José Alencar Pires Barbosa, Marcelo Houat de Brito, Júlia Chartouni Rodrigues, Gabriel Taricani Kubota, Jacy Bezerra Parmera
A 75-year-old right-handed woman presented to the emergency department with simultanagnosia and right unilateral optic ataxia. Moreover, the patient had agraphia, acalculia, digital agnosia and right-left disorientation, consistent with complete Gerstmann's syndrome. This case highlights the concurrence of Gerstmann's syndrome and unilateral optic ataxia in the acute phase of a left middle cerebral artery stroke.
October 2017: Dementia & Neuropsychologia
Andreas Holbro, Helen Baldomero, Francesco Lanza, Christian Chabannon, John A Snowden, Andreas Buser, Laura Infanti, Nina Worel, Anna Sureda, Manuela Badoglio, Jakob Passweg, Chiara Bonini
BACKGROUND: There is considerable heterogeneity in processing of stem cells for hematopoietic stem cell transplantation across Europe. The Foundation for the Accreditation of Cellular Therapy (FACT)-Joint Accreditation Committee International Society for Cellular Therapy and European Society for Blood and Marrow Transplantation (EBMT) (JACIE) standards provide minimum guidelines that, however, leave room for significant variations in practices at the individual transplantation center (TC)...
March 2018: Cytotherapy
Sydney C Karnovsky, Bridget DeSandis, Amgad M Haleem, Carolyn M Sofka, Martin O'Malley, Mark C Drakos
BACKGROUND: The purpose of this study was to compare the functional and radiographic outcomes of patients who received juvenile allogenic chondrocyte implantation with autologous bone marrow aspirate (JACI-BMAC) for treatment of talar osteochondral lesions with those of patients who underwent microfracture (MF). METHODS: A total of 30 patients who underwent MF and 20 who received DeNovo NT for JACI-BMAC treatment between 2006 and 2014 were included. Additionally, 17 MF patients received supplemental BMAC treatment...
April 2018: Foot & Ankle International
Fernanda Brognara, Jaci A Castania, Daniel P M Dias, Alexandre H Lopes, Rubens Fazan, Alexandre Kanashiro, Luis Ulloa, Helio C Salgado
We previously reported that activation of the baroreflex, a critical physiological mechanism controlling cardiovascular homeostasis, through electrical stimulation of the aortic depressor nerve attenuates joint inflammation in experimental arthritis. However, it is unknown whether baroreflex activation can control systemic inflammation. Here, we investigate whether baroreflex activation controls systemic inflammation in conscious endotoxemic rats. Animals underwent sham or electrical aortic depressor nerve stimulation initiated 10 min prior to a lipopolysaccharide (LPS) challenge, while inflammatory cytokine levels were measured in the blood, spleen, heart and hypothalamus 90 min after LPS treatment...
March 1, 2018: Brain Research
Bridget A DeSandis, Amgad M Haleem, Carolyn M Sofka, Martin J O'Malley, Mark C Drakos
Juvenile allogenic chondrocyte implantation (JACI; DeNovo NT Natural Tissue Graft® ; Zimmer, Warsaw, IN) with autologous bone marrow aspirate concentrate (BMAC) is a relatively new all-arthroscopic procedure for treating critical-size osteochondral lesions (OCLs) of the talus. Few studies have investigated the clinical and radiographic outcomes of this procedure. We collected the clinical and radiographic outcomes of patients who had undergone JACI-BMAC for talar OCLs to assess treatment efficacy and cartilage repair tissue quality using magnetic resonance imaging (MRI)...
March 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
Grant M Tinsley, Stacie Urbina, Jacy Mullins, Jordan Outlaw, Sara Hayward, Matt Stone, Cliffa Foster, Colin Wilborn, Lem Taylor
Dietary supplementation is commonly employed by individuals seeking to improve body composition and exercise performance. The purpose of the present study was to examine the safety and effectiveness of a commercially available dietary supplement designed to promote thermogenesis and fat loss. In a randomized double-blind trial, participants were assigned to consume placebo or a multi-ingredient supplement containing caffeine, green tea extract, l-carnitine, evodiamine and other ingredients that purportedly enhance thermogenesis...
December 2017: Journal of Sports Science & Medicine
M Crysandt, I Yakoub-Agha, P Reiß, S Theisen, G Silling, P Glatte, E Nelles, S Lemmen, T H Brümmendorf, U Kontny, E Jost
Allogeneic hematopoietic cell transplantation is part of the standard of care for many hematological diseases. Over the last decades, significant advances in patient and donor selection, conditioning regimens as well as supportive care of patients undergoing allogeneic hematopoietic cell transplantation leading to improved overall survival have been made. In view of many new treatment options in cellular and molecular targeted therapies, the place of allogeneic transplantation in therapy concepts must be reviewed...
November 2017: Current Research in Translational Medicine
Jeremy A O'Sullivan, Bruce S Bochner
The goal of this series is to offer a survey of the latest literature for clinicians and scientists alike, providing a list of important recent advances relevant to the broad field of allergy and immunology. This particular assignment was to cover the topic of eosinophils. In an attempt to highlight major ideas, themes, trends, and advances relevant to basic and clinical aspects of eosinophil biology, a search of articles published since 2015 in the Journal of Allergy and Clinical Immunology and other high-impact journals was performed...
February 2018: Journal of Allergy and Clinical Immunology
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