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https://www.readbyqxmd.com/read/27933089/a-rare-inherited-15q11-2-q13-1-interstitial-duplication-with-maternal-somatic-mosaicism-renal-carcinoma-and-autism
#1
Nora Urraca, Brian Potter, Rachel Hundley, Eniko K Pivnick, Kathryn McVicar, Ronald L Thibert, Christopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L Sirois, Stormy Chamberlain, Lawrence T Reiter
Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here, we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of somatic mosaicism in the mother. She is typically functioning, but formal autism testing showed mild ASD. She had several congenital anomalies, and she is the first 15q Duplication case reported in the literature to develop unilateral renal carcinoma...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27929394/metabolism-of-ht-2-toxin-and-t-2-toxin-in-oats
#2
Jacqueline Meng-Reiterer, Christoph Bueschl, Justyna Rechthaler, Franz Berthiller, Marc Lemmens, Rainer Schuhmacher
The Fusarium mycotoxins HT-2 toxin (HT2) and T-2 toxin (T2) are frequent contaminants in oats. These toxins, but also their plant metabolites, may contribute to toxicological effects. This work describes the use of (13)C-assisted liquid chromatography-high-resolution mass spectrometry for the first comprehensive study on the biotransformation of HT2 and T2 in oats. Using this approach, 16 HT2 and 17 T2 metabolites were annotated including novel glycosylated and hydroxylated forms of the toxins, hydrolysis products, and conjugates with acetic acid, putative malic acid, malonic acid, and ferulic acid...
December 5, 2016: Toxins
https://www.readbyqxmd.com/read/27927933/disparities-and-guideline-adherence-in-drugs-of-abuse-screening-in-intracerebral-hemorrhage
#3
Laura M Tormoehlen, Ashley D Blatsioris, Elizabeth A S Moser, Ravan J L Carter, Alec Stevenson, Susan Ofner, Abigail L Hulin, Darren P O'Neill, Aaron A Cohen-Gadol, Thomas J Leipzig, Linda S Williams, Jason Mackey
OBJECTIVE: To characterize the pattern of urine drug screening in a cohort of intracerebral hemorrhage (ICH) patients at our academic centers. METHODS: We identified cases of primary ICH occurring from 2009 to 2011 in our academic centers. Demographic data, imaging characteristics, processes of care, and short-term outcomes were ascertained. We performed logistic regression to identify predictors for screening and evaluated preguideline and postguideline reiteration screening patterns...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27927701/melatonin-for-cardioprotection-in-st-elevation-myocardial-infarction-are-we-ready-for-the-challenge
#4
EDITORIAL
Alberto Dominguez-Rodriguez, Pedro Abreu-Gonzalez, Russel J Reiter
No abstract text is available yet for this article.
December 7, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27926473/growth-differentiation-factor-15-increases-following-oral-glucose-ingestion-effect-of-meal-composition-and-obesity
#5
Marie Helene Schernthaner-Reiter, Dominik Kasses, Christina Tugendsam, Michaela Riedl, Slobodan Peric, Gerhard Prager, Michael Krebs, Miriam Promintzer-Schifferl, Martin Clodi, Anton Luger, Greisa Vila
OBJECTIVE: Growth differentiation factor 15 (GDF15) is a cardiovascular biomarker belonging to the transforming growth factor-β superfamily. Increased GDF15 concentrations are associated with insulin resistance, diabetes and obesity. We investigated the physiological effects of meal composition and obesity on the regulation of systemic GDF15 levels. DESIGN: Lean (n = 8) and obese (n = 8) individuals received a carbohydrate- or fat-rich meal, a 75 g oral glucose load (OGTT) or short-term fasting...
December 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27925748/role-of-the-%C3%AE-resonance-in-the-population-of-a-four-nucleon-state-in-the-56-fe%C3%A2-54-fe-reaction-at-relativistic-energies
#6
Zs Podolyák, C M Shand, N Lalović, J Gerl, D Rudolph, T Alexander, P Boutachkov, M L Cortés, M Górska, I Kojouharov, N Kurz, C Louchart, E Merchán, C Michelagnoli, R M Pérez-Vidal, S Pietri, D Ralet, M Reese, H Schaffner, Ch Stahl, H Weick, F Ameil, G de Angelis, T Arici, R Carroll, Zs Dombrádi, A Gadea, P Golubev, M Lettmann, C Lizarazo, D Mahboub, H Pai, Z Patel, N Pietralla, P H Regan, L G Sarmiento, O Wieland, E Wilson, B Birkenbach, B Bruyneel, I Burrows, L Charles, E Clément, F C L Crespi, D M Cullen, P Désesquelles, J Eberth, V González, T Habermann, L Harkness-Brennan, H Hess, D S Judson, A Jungclaus, W Korten, M Labiche, A Maj, D Mengoni, D R Napoli, A Pullia, B Quintana, G Rainovski, P Reiter, M D Salsac, E Sanchis, J J Valiente Dóbon
The ^{54}Fe nucleus was populated from a ^{56}Fe beam impinging on a Be target with an energy of E/A=500  MeV. The internal decay via γ-ray emission of the 10^{+} metastable state was observed. As the structure of this isomeric state has to involve at least four unpaired nucleons, it cannot be populated in a simple two-neutron removal reaction from the ^{56}Fe ground state. The isomeric state was produced in the low-momentum (-energy) tail of the parallel momentum (energy) distribution of ^{54}Fe, suggesting that it was populated via the decay of the Δ^{0} resonance into a proton...
November 25, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27920782/acclimation-of-biochemical-and-diffusive-components-of-photosynthesis-in-rice-wheat-and-maize-to-heat-and-water-deficit-implications-for-modeling-photosynthesis
#7
Juan A Perdomo, Elizabete Carmo-Silva, Carmen Hermida-Carrera, Jaume Flexas, Jeroni Galmés
The impact of the combined effects of heat stress, increased vapor pressure deficit (VPD) and water deficit on the physiology of major crops needs to be better understood to help identifying the expected negative consequences of climate change and heat waves on global agricultural productivity. To address this issue, rice, wheat, and maize plants were grown under control temperature (CT, 25°C, VPD 1.8 kPa), and a high temperature (HT, 38°C, VPD 3.5 kPa), both under well-watered (WW) and water deficit (WD) conditions...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27919824/melatonin-s-role-as-a-co-adjuvant-treatment-in-colonic-diseases-a-review
#8
REVIEW
Eduardo Esteban-Zubero, Laura López-Pingarrón, Moisés Alejandro Alatorre-Jiménez, Purificación Ochoa-Moneo, Celia Buisac-Ramón, Miguel Rivas-Jiménez, Silvia Castán-Ruiz, Ángel Antoñanzas-Lombarte, Dun-Xian Tan, José Joaquín García, Russel J Reiter
Melatonin is produced in the pineal gland as well as many other organs, including the enterochromaffin cells of the digestive mucosa. Melatonin is a powerful antioxidant that resists oxidative stress due to its capacity to directly scavenge reactive species, to modulate the antioxidant defense system by increasing the activities of antioxidant enzymes, and to stimulate the innate immune response through its direct and indirect actions. In addition, the dysregulation of the circadian system is observed to be related with alterations in colonic motility and cell disruptions due to the modifications of clock genes expression...
December 2, 2016: Life Sciences
https://www.readbyqxmd.com/read/27914824/nutraceutical-inherent-of-spinacia-oleracea-linn-methanolic-leaf-extract-ameliorates-isoproterenol-induced-myocardial-necrosis-in-male-albino-wistar-rats-via-mitigating-inflammation
#9
Shivaranjani Vutharadhi, Umamaheswari Jolapuram, Lakshmi Devi Kodidhela
Cardiovascular diseases (CVDs) remain the principal cause of death in both developed and developing countries. The present study was intended to appraise the nutraceutical inherent of HPLC standardized Spinacia oleracea methanolic leaf extract (SoLE) in isoproterenol (ISO) induced male albino Wistar rats via activation of pro-inflammatory signaling pathway that drives myocardial necrosis. Biochemical analysis of ISO injected rats showed significant alterations in the activities of homocysteine, paraoxonase, lecithin cholesterol acyltransferase, C-reactive protein, myeloperoxidase and caspase-3 which were further confirmed by the histopathological examination...
November 30, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27914118/blue-lymphangitis-of-the-breast-after-breast-cancer-case-report
#10
Alexandra Arfi, Alice Clavier, Jean F Honart, Samy Ammari, Zahira Merabet, Christine Mateus, Julia Arfi-Rouche
Carcinomatous lymphangitis accounts for 5% of all skin metastases, but blue lymphangitis of the breast has never been described. We report a case of blue lymphangitis of the breast in a patient 11 years after treatment for ipsilateral breast cancer that was in full remission. Breast examination and imaging showed no other abnormalities. Skin biopsy revealed a carcinomatous-pigmented infiltration corresponding to melanoma metastasis, which helped highlight a primitive right flank injury. This case report emphasizes that a full body exam should always be performed with unusual presentation of breast cancer and reiterates the indispensable place of histology before any diagnosis...
December 3, 2016: Breast Journal
https://www.readbyqxmd.com/read/27911041/impact-of-rabies-vaccination-history-on-attainment-of-an-adequate-antibody-titre-among-dogs-tested-for-international-travel-certification-israel-2010-2014
#11
B Yakobson, N Taylor, N Dveres, S Rotblat, Ż Spero, E W Lankau, J Maki
Rabies is endemic in wildlife or domestic carnivore populations globally. Infection of domestic dogs is of particular concern in many areas. In regions where domestic animals are at risk of exposure to rabies virus, dogs should be routinely vaccinated against rabies to protect both pet and human populations. Many countries require demonstration of an adequate level of serum rabies neutralizing antibodies to permit entry of dogs during international travel. We analysed rabies titres of dogs seeking travel certification in Israel to assess demographic and vaccine history factors associated with antibody titres below the acceptable threshold for travel certification...
December 2, 2016: Zoonoses and Public Health
https://www.readbyqxmd.com/read/27900325/giant-idiopathic-renal-arteriovenous-fistula-managed-by-coils-and-amplatzer-device-case-report-and-literature-review
#12
Prashant Nagpal, Girish Bathla, Sachin S Saboo, Ashish Khandelwal, Abhishek Goyal, Frank J Rybicki, Michael L Steigner
An idiopathic renal arteriovenous (AV) fistula is a rare malformation of the kidney that may present insidiously with heart failure or hematuria. The treatment may be challenging due to large fistula size that may limit endovascular management. The authors report a case of an 85-year-old Caucasian woman who presented with acute heart failure and was found to have a right renal AV fistula. Since she had no prior history of renal intervention or trauma, a diagnosis of idiopathic renal AV fistula was made. She was managed by endoluminal occlusion using multiple stainless steel coils and Amplatzer vascular plug II device...
November 16, 2016: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/27893529/the-role-of-theory-specific-techniques-and-therapeutic-alliance-in-promoting-positive-outcomes-integrative-psychotherapy-for-world-trade-center-responders
#13
Peter Tejas Haugen, Aditi Sinha Werth, Alyce Lauren Foster, Jesse Owen
World Trade Center responders demonstrate high symptom burden, underscoring the importance of refining treatment approaches for this cohort. One method is examining the impact of therapy techniques on outcomes, and the interactions between technique and alliance on outcomes. This study a) examined the interaction of early treatment techniques on integrative psychotherapy outcomes and b) explored whether associations differed at varying levels of alliance. Twenty-nine adult responders diagnosed with partial or full posttraumatic stress disorder received outpatient psychotherapy and completed weekly measures of alliance, technique, and symptom distress...
December 2016: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/27890451/sniffing-the-diagnosis-olfactory-testing-in-neurodegenerative-parkinsonism
#14
F Krismer, B Pinter, C Mueller, P Mahlknecht, M Nocker, E Reiter, A Djamshidian-Tehrani, S M Boesch, G K Wenning, C Scherfler, W Poewe, K Seppi
OBJECTIVE: To determine the diagnostic utility of olfactory testing in patients with neurodegenerative parkinsonism. METHODS: The Sniffin' Sticks test battery for assessment of odor identification, discrimination, and threshold was applied to patients with Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) as well as healthy controls (HC). Two different cohorts were analyzed: A PD/healthy control that included PD patients and HC as well as a PD/diseased control cohort for which patients PD, MSA and PSP were recruited...
November 21, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27889913/long-term-melatonin-treatment-delays-ovarian-aging
#15
Hiroshi Tamura, Mai Kawamoto, Shun Sato, Isao Tamura, Ryo Maekawa, Toshiaki Taketani, Hiromi Aasada, Eiichi Takaki, Akira Nakai, Russel J Reiter, Norihiro Sugino
Ovarian aging is characterized by gradual declines in oocyte quantity and quality. Melatonin is considered an anti-aging agent due to its cytoprotective actions as an antioxidant. The present study examined whether long-term melatonin treatment would delay ovarian aging in mice. Female ICR mice (10 weeks old) were given melatonin-containing water (100 μg/ml; melatonin) or water only until 43 weeks of age. Their oocytes were recovered from the oviduct, and in vitro fertilization was performed. The ovaries were used for a histological analysis of the number of follicles...
November 27, 2016: Journal of Pineal Research
https://www.readbyqxmd.com/read/27887978/mild-encephalitis-encephalopathy-with-reversible-splenial-lesion-mers-due-to-dengue-virus
#16
Choong Yi Fong, Mi Mi Ko Khine, Alan Basil Peter, Wei Kang Lim, Faizatul Izza Rozalli, Kartini Rahmat
A 14-year-old girl presented with encephalopathy, delirium and ophthalmoplegia following a 3day history of high-grade fever. Brain MRI on day 6 of illness showed diffusion restricted ovoid lesion in the splenium of corpus callosum. Dengue virus encephalitis was diagnosed with positive PCR for dengue virus type-2 in both serum and cerebrospinal fluid. She made a complete recovery from day 10 of illness. Repeat brain MRI on day 12 of illness showed resolution of the splenial lesion. Serial diffusion tensor imaging (DTI) showed normal fractional anisotropy values on resolution of splenial lesion indicating that MERS was likely due to transient interstitial oedema with preservation of white matter tracts...
November 23, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27886784/tuberculosis-and-the-heart
#17
REVIEW
Arthur K Mutyaba, Mpiko Ntsekhe
Owing to the high prevalence of tuberculosis (TB) and human immunodeficiency virus/AIDS, tuberculous heart disease remains an important problem in TB endemic areas. In this review, we reiterate salient aspects of the traditional understanding and approach to its management, and provide important updates on the pathophysiology, diagnosis, and treatment garnered over the past decade of focused clinical and basic science research. We emphasize that, if implemented widely, these improved evidence-based approaches to the disease can build on the early progress made in treating tuberculous heart disease and help further the goal of significantly reducing its historically high morbidity and mortality...
February 2017: Cardiology Clinics
https://www.readbyqxmd.com/read/27886506/measurement-of-excitation-spectra-in-the-12-c-p-d-reaction-near-the-%C3%AE-emission-threshold
#18
Y K Tanaka, K Itahashi, H Fujioka, Y Ayyad, J Benlliure, K-T Brinkmann, S Friedrich, H Geissel, J Gellanki, C Guo, E Gutz, E Haettner, M N Harakeh, R S Hayano, Y Higashi, S Hirenzaki, C Hornung, Y Igarashi, N Ikeno, M Iwasaki, D Jido, N Kalantar-Nayestanaki, R Kanungo, R Knöbel, N Kurz, V Metag, I Mukha, T Nagae, H Nagahiro, M Nanova, T Nishi, H J Ong, S Pietri, A Prochazka, C Rappold, M P Reiter, J L Rodríguez-Sánchez, C Scheidenberger, H Simon, B Sitar, P Strmen, B Sun, K Suzuki, I Szarka, M Takechi, I Tanihata, S Terashima, Y N Watanabe, H Weick, E Widmann, J S Winfield, X Xu, H Yamakami, J Zhao
Excitation spectra of ^{11}C are measured in the ^{12}C(p,d) reaction near the η^{'} emission threshold. A proton beam extracted from the synchrotron SIS-18 at GSI with an incident energy of 2.5 GeV impinges on a carbon target. The momenta of deuterons emitted at 0° are precisely measured with the fragment separator (FRS) operated as a spectrometer. In contrast to theoretical predictions on the possible existence of deeply bound η^{'}-mesic states in carbon nuclei, no distinct structures are observed associated with the formation of bound states...
November 11, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27885835/sequential-enzymatic-conversion-of-%C3%AE-angelica-lactone-to-%C3%AE-valerolactone-through-hydride-independent-c-c-bond-isomerization
#19
Nikolaus G Turrini, Elisabeth Eger, Tamara C Reiter, Kurt Faber, Mélanie Hall
A case of hydride-independent reaction catalyzed by flavin-dependent ene-reductases from the Old Yellow Enzyme (OYE) family was identified. α-Angelica lactone was isomerized to the conjugated β-isomer in a nicotinamide-free and hydride-independent process. The catalytic cycle of C=C bond isomerization appears to be flavin-independent and to rely solely on a deprotonation-reprotonation sequence through acid-base catalysis. Key residues in the enzyme active site were mutated and provided insight on important mechanistic features...
November 25, 2016: ChemSusChem
https://www.readbyqxmd.com/read/27885819/annual-banned-substance-review-analytical-approaches-in-human-sports-drug-testing
#20
Mario Thevis, Tiia Kuuranne, Hans Geyer, Wilhelm Schänzer
There has been an immense amount of visibility of doping issues on the international stage over the past 12 months and the complexity of doping controls has been reiterated on various occasions. Hence, analytical test methods continuously being updated, expanded, and improved to provide specific, sensitive, and comprehensive test results in line with the World Anti-Doping Agency's (WADA) 2016 Prohibited List represent one of several critical cornerstones of doping controls. This enterprise necessitates expediting the (combined) exploitation of newly generated information on novel and/or superior target analytes for sports drug testing assays, drug elimination profiles, alternative test matrices, and recent advances in instrumental developments...
November 25, 2016: Drug Testing and Analysis
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