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K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Jonathan B Gillespie, Michelle Maclean, Martin J Given, Mark P Wilson, Martin D Judd, Igor V Timoshkin, Scott J MacGregor
OBJECTIVE: This study investigates possible advantages in pulsed over continuous 405-nm light-emitting diode (LED) light for bacterial inactivation and energy efficiency. BACKGROUND: Alternative nonantibiotic methods of disinfection and infection control have become of significant interest. Recent studies have demonstrated the application of systems using 405-nm LEDs for continuous disinfection of the clinical environment, and also for potential treatment of contaminated wounds...
October 19, 2016: Photomedicine and Laser Surgery
Teresa Stemeseder, Eva Klinglmayr, Stephanie Moser, Lisa Lueftenegger, Roland Lang, Martin Himly, Gertie J Oostingh, Joerg Zumbach, Arne C Bathke, Thomas Hawranek, Gabriele Gadermaier
BACKGROUND: Allergen specific IgE antibodies are a hallmark of type I allergy. The aim of this cross-sectional study was to analyze the sensitization profiles of an Austrian adolescent population utilizing molecule-based IgE diagnosis. METHODS: Serum samples of 501 non-selected pupils from Salzburg, Austria, were tested in ImmunoCAP ISAC(®) for IgE reactivity to 112 single allergens. Sensitization profiles were assessed and statistically coordinated with reported allergies...
October 18, 2016: Allergy
T V K Herregods, A J P M Smout, J L S Ooi, D Sifrim, A J Bredenoord
BACKGROUND: With the advent of high-resolution manometry (HRM), a new diagnosis, jackhammer esophagus, was introduced. Little is known about this rare condition, and the relationship between symptoms and hypercontractility is not always straightforward. The aim of our study was to describe a large cohort of patients with jackhammer esophagus and to investigate whether manometric findings are associated with the presence of symptoms. METHODS: All patients from 06, 2014 until 12, 2015 seen at two tertiary centers with at least one hypercontractile swallow (distal contractile integral [DCI] >8000 mm Hg/s/cm) on HRM were analyzed...
October 17, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
S Sheludiakov, J Ahokas, J Järvinen, D Zvezdov, L Lehtonen, O Vainio, S Vasiliev, D M Lee, V V Khmelenko
We report on a study of the exchange tunneling reaction D + HD → D2 + H in a pure solid HD matrix and in a D2 matrix with a 0.23% HD admixture at temperatures between 130 mK and 1.5 K. We found that the exchange reaction rates, kexHD ∼ 3 × 10(-27) cm(3) s(-1) in the pure HD matrix, and kexD2 = 9(4) × 10(-28) cm(3) s(-1) in the D2 matrix, are nearly independent of temperature within this range. This confirms the quantum tunnelling nature of these reactions, and their ability to proceed at temperatures down to absolute zero...
October 18, 2016: Physical Chemistry Chemical Physics: PCCP
U Kiltz, D van der Heijde, A Boonen, W Bautista-Molano, R Burgos-Vargas, P Chiowchanwisawakit, T Duruoz, B El-Zorkany, I Essers, I Gaydukova, P Géher, L Gossec, S Grazio, J Gu, M A Khan, T J Kim, W P Maksymowych, H Marzo-Ortega, V Navarro-Compán, I Olivieri, D Patrikos, F M Pimentel-Santos, M Schirmer, F van den Bosch, U Weber, J Zochling, J Braun
INTRODUCTION: The Assessments of SpondyloArthritis international society Health Index (ASAS HI) measures functioning and health in patients with spondyloarthritis (SpA) across 17 aspects of health and 9 environmental factors (EF). The objective was to translate and adapt the original English version of the ASAS HI, including the EF Item Set, cross-culturally into 15 languages. METHODS: Translation and cross-cultural adaptation has been carried out following the forward-backward procedure...
2016: RMD Open
R E Frye, J Slattery, L Delhey, B Furgerson, T Strickland, M Tippett, A Sailey, R Wynne, S Rose, S Melnyk, S Jill James, J M Sequeira, E V Quadros
We sought to determine whether high-dose folinic acid improves verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language impairment in a double-blind placebo control setting. Forty-eight children (mean age 7 years 4  months; 82% male) with ASD and language impairment were randomized to receive 12 weeks of high-dose folinic acid (2 mg kg(-1) per day, maximum 50 mg per day; n=23) or placebo (n=25). Children were subtyped by glutathione and folate receptor-α autoantibody (FRAA) status...
October 18, 2016: Molecular Psychiatry
D Zbogar, J J Eng, W C Miller, A V Krassioukov, M C Verrier
STUDY DESIGN: Longitudinal observational study. OBJECTIVE: To quantify the amount of upper- and lower-extremity movement repetitions (that is, voluntary movements as part of a functional task or specific motion) occurring during inpatient spinal cord injury (SCI), physical (PT) and occupational therapy (OT), and examine changes over the inpatient rehabilitation stay. SETTING: Two stand-alone inpatient SCI rehabilitation centers. METHODS: Participants: A total of 103 patients were recruited through consecutive admissions to SCI rehabilitation...
October 18, 2016: Spinal Cord
Michael V Lombardo, Meng-Chuan Lai, Bonnie Auyeung, Rosemary J Holt, Carrie Allison, Paula Smith, Bhismadev Chakrabarti, Amber N V Ruigrok, John Suckling, Edward T Bullmore, Christine Ecker, Michael C Craig, Declan G M Murphy, Francesca Happé, Simon Baron-Cohen
Individuals affected by autism spectrum conditions (ASC) are considerably heterogeneous. Novel approaches are needed to parse this heterogeneity to enhance precision in clinical and translational research. Applying a clustering approach taken from genomics and systems biology on two large independent cognitive datasets of adults with and without ASC (n = 694; n = 249), we find replicable evidence for 5 discrete ASC subgroups that are highly differentiated in item-level performance on an explicit mentalizing task tapping ability to read complex emotion and mental states from the eye region of the face (Reading the Mind in the Eyes Test; RMET)...
October 18, 2016: Scientific Reports
O V Kim, R I Litvinov, J Chen, D Z Chen, J W Weisel, M S Alber
Fibrin and collagen as well as their combinations play an important biological role in tissue regeneration and are widely employed in surgery as fleeces or sealants and in bioengineering as tissue scaffolds. Earlier studies demonstrated that fibrin-collagen composite networks displayed improved tensile mechanical properties compared to the isolated protein matrices. Unlike previous studies, here unconfined compression was applied to a fibrin-collagen filamentous polymer composite matrix to study its structural and mechanical responses to compressive deformation...
October 14, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
J E Dietrich, D L Yee, X M Santos, J L Bercaw-Pratt, J Kurkowski, H Soni, Y J Lee-Kim, M D Shah, D Mahoney, L V Srivaths
BACKGROUND: Bleeding disorders (BD) occur in up to 50% of adolescents with heavy menstrual bleeding (HMB). This presents unique challenges to healthcare providers given the complexity of treating the condition and such complexity can result in difficulty with patients understanding basic information about their condition, limit communication with medical providers, and patient compliance. SPECIFIC AIMS: To use an electronic approach to enhance patient compliance with medications used to treat their HMB...
October 14, 2016: Journal of Pediatric and Adolescent Gynecology
A M Api, D Belsito, S Bhatia, M Bruze, G A Burton, J Buschmann, P Calow, M L Dagli, W Dekant, A D Fryer, L Kromidas, S L A Cava, A Lapczynski, D C Liebler, D O'Brien, R Parakhia, T M Penning, V T Politano, G Ritacco, D Salvito, T W Schultz, J Shen, I G Sipes, B Wall, D K Wilcox
No abstract text is available yet for this article.
October 14, 2016: Food and Chemical Toxicology
F McIntyre, H Parker, A Thornton, M Licari, J Piek, D Rigoli, B Hands
Currently, only two motor tests have norms extending into young adulthood - the McCarron Assessment of Neuromuscular Development (MAND, McCarron 1997) and the Bruininks Oseretsky Test of Motor Proficiency-2 (BOT-2, Bruininks & Bruininks, 2005). Research into the motor difficulties in early adulthood and health outcomes has been impeded because there is no agreed gold standard motor test for this group. The purposes of this study were to compare the discrimination accuracy, classification agreement, and predictive values, and gender distribution and prevalence of each test in identifying motor impairment (MI) in relation to DSM-V diagnostic criteria for DCD...
October 14, 2016: Human Movement Science
Brooks V Udelsman, Jessica Eaton, Ashok Muniappan, Christopher R Morse, Cameron D Wright, Douglas J Mathisen
OBJECTIVE: Patients with complicated airway defects that exceed the limits of primary repair represent a challenging clinical problem and require alternative techniques for repair. The aim of this study was to evaluate bioprosthetic reconstruction of large tracheal and bronchial defects. METHODS: Retrospective chart review of patients treated at a single tertiary center from 2008 to 2015 who underwent repair of tracheal or bronchial defects with a bioprosthetic device, namely aortic homograft or acellular dermal matrix...
November 2016: Journal of Thoracic and Cardiovascular Surgery
Nitin V Kolhe, Richard J Fluck, Andrew W Muirhead, Maarten W Taal
BACKGROUND: The absence of effective interventions in presence of increasing national incidence and case-fatality in acute kidney injury requiring dialysis (AKI-D) warrants a study of regional variation to explore any potential for improvement. We therefore studied regional variation in the epidemiology of AKI-D in English National Health Service over a period of 15 years. METHOD: We analysed Hospital Episode Statistics data for all patients with a diagnosis of AKI-D, using ICD-10-CM codes, in English regions between 2000 and 2015 to study temporal changes in regional incidence and case-fatality...
2016: PloS One
Joanna J Hoppins, David R Gruber, Heather L Miears, Alexey S Kiryutin, Rustem D Kasymov, Darya V Petrova, Anton V Endutkin, Alexander V Popov, Alexandra V Yurkovskaya, Stanislav O Fedechkin, Jacob A Brockerman, Dmitry O Zharkov, Serge L Smirnov
8-oxoguanine is one of the most abundant and impactful oxidative DNA lesions. However, the reasons underlying its effects, especially those not directly explained by the altered base pairing ability, are poorly understood. We report the effect of the lesion on the action of EcoRI, a widely used restriction endonuclease. Introduction of 8-oxoguanine inside, or adjacent to, the GAATTC recognition site embedded within the Drew-Dickerson dodecamer sequence notably reduced the EcoRI activity. Solution NMR revealed that 8-oxoguanine in the DNA duplex causes substantial alterations in the sugar-phosphate backbone conformation, inducing a BI→BII transition...
2016: PloS One
Chafiq Hamdouchi, Steven D Kahl, Anjana Patel Lewis, Guemalli R Cardona, Richard W Zink, Keyue Chen, Thomas E Eessalu, James V Ficorilli, Marialuisa C Marcelo, Keith A Otto, Kelly L Wilbur, Jayana P Lineswala, Jared L Piper, D Scott Coffey, Stephanie A Sweetana, Joseph V Haas, Dawn A Brooks, Edward J Pratt, Ruth M Belin, Mark A Deeg, Xiaosu Ma, Ellen A Cannady, Jason T Johnson, Nathan P Yumibe, Qi Chen, Pranab Maiti, Chahrzad Montrose-Rafizadeh, Yanyun Chen, Anne Reifel Miller
The G protein-coupled receptor 40 (GPR40) also known as Free Fatty Acid Receptor 1 (FFAR1) is highly expressed in pancreatic, islet cells and responds to endogenous fatty acids resulting in amplification of insulin secretion only in the presence of elevated glucose levels. Hypothesis driven structural modifications to endogenous FFAs, focused on breaking planarity and reducing lipophilicity, led to the identification of spiropiperidine and tetrahydroquinoline acid derivatives as GPR40 agonists with unique pharmacology, selectivity and pharmacokinetic properties...
October 17, 2016: Journal of Medicinal Chemistry
G N Nguyen, L A George, J I Siner, R J Davidson, C B Zander, X L Zheng, V R Arruda, R M Camire, D E Sabatino
BACKGROUND: The major challenge for developing gene-based therapies for hemophilia A is that human factor VIII (hFVIII) has intrinsic properties that result in inefficient biosynthesis. During intracellular processing, hFVIII is predominantly cleaved at a Paired basic Amino acid Cleaving Enzyme (PACE) or furin cleavage site to yield a heterodimer that is the major form of secreted protein. Previous studies with B-domain deleted (BDD) canine FVIII and hFVIII-R1645H, both differing from hFVIII by a single amino acid at this site, suggested that these proteins are secreted mainly in a single polypeptide chain (SC) form and exhibit enhanced function...
October 17, 2016: Journal of Thrombosis and Haemostasis: JTH
E Rizos, N Siafakas, E Skourti, C Papageorgiou, J Tsoporis, T H Parker, D I Christodoulou, D A Spandidos, E Katsantoni, V Zoumpourlis
Schizophrenia (SZ) and cancer (Ca) have a broad spectrum of clinical phenotypes and a complex biological background, implicating a large number of genetic and epigenetic factors. SZ is a chronic neurodevelopmental disorder signified by an increase in the expression of apoptotic molecular signals, whereas Ca is conversely characterized by an increase in appropriate molecular signaling that stimulates uncontrolled cell proliferation. The rather low risk of developing Ca in patients suffering from SZ is a hypothesis that is still under debate...
October 14, 2016: Molecular Medicine Reports
A Harrod, J Fulton, V T M Nguyen, M Periyasamy, L Ramos-Garcia, C-F Lai, G Metodieva, A de Giorgio, R L Williams, D B Santos, P J Gomez, M-L Lin, M V Metodiev, J Stebbing, L Castellano, L Magnani, R C Coombes, L Buluwela, S Ali
Drugs that inhibit estrogen receptor-α (ER) activity have been highly successful in treating and reducing breast cancer progression in ER-positive disease. However, resistance to these therapies presents a major clinical problem. Recent genetic studies have shown that mutations in the ER gene are found in >20% of tumours that progress on endocrine therapies. Remarkably, the great majority of these mutations localize to just a few amino acids within or near the critical helix 12 region of the ER hormone binding domain, where they are likely to be single allele mutations...
October 17, 2016: Oncogene
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