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https://www.readbyqxmd.com/read/29770609/whole-exome-sequencing-for-variant-discovery-in-blepharospasm
#1
Jun Tian, Satya R Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska-Bar, Zbigniew K Wszolek, Kathleen D Kennelly, Ryan J Uitti, Jay A van Gerpen, Peter Hedera, Elizabeth J Trimble, Mark S LeDoux
BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole-exome sequencing (WES), none of these are characteristically associated with BSP as a singular or predominant manifestation...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29768505/multi-site-evaluation-of-the-ln34-pan-lyssavirus-real-time-rt-pcr-assay-for-post-mortem-rabies-diagnostics
#2
Crystal M Gigante, Lisa Dettinger, James W Powell, Melanie Seiders, Rene Edgar Condori Condori, Richard Griesser, Kenneth Okogi, Maria Carlos, Kendra Pesko, Mike Breckenridge, Edson Michael M Simon, Maria Yna Joyce V Chu, April D Davis, Scott J Brunt, Lillian Orciari, Pamela Yager, William C Carson, Claire Hartloge, Jeremiah T Saliki, Susan Sanchez, Mojgan Deldari, Kristina Hsieh, Ashutosh Wadhwa, Kimberly Wilkins, Veronica Yung Peredo, Patricia Rabideau, Nina Gruhn, Rolain Cadet, Shrikrishna Isloor, Sujith S Nath, Tomy Joseph, Jinxin Gao, Ryan Wallace, Mary Reynolds, Victoria A Olson, Yu Li
Rabies is a fatal zoonotic disease that requires fast, accurate diagnosis to prevent disease in an exposed individual. The current gold standard for post-mortem diagnosis of human and animal rabies is the direct fluorescent antibody (DFA) test. While the DFA test has proven sensitive and reliable, it requires high quality antibody conjugates, a skilled technician, a fluorescence microscope and diagnostic specimen of sufficient quality. The LN34 pan-lyssavirus real-time RT-PCR assay represents a strong candidate for rabies post-mortem diagnostics due to its ability to detect RNA across the diverse Lyssavirus genus, its high sensitivity, its potential for use with deteriorated tissues, and its simple, easy to implement design...
2018: PloS One
https://www.readbyqxmd.com/read/29763902/prognostic-factors-of-renal-involvement-in-systemic-sclerosis
#3
Edoardo Rosato, Antonietta Gigante, Biagio Barbano, Maria Ludovica Gasperini, Rosario Cianci, Maurizio Muscaritoli
BACKGROUND/AIMS: Renal involvement is common in systemic sclerosis (SSc), including asymptomatic reduction of glomerular filtration rate (GFR), increased renal resistance indices, scleroderma renal crisis (SRC) and ANCA-associated vasculitis. The aim was to evaluate type and evolution of renal involvement for a period of five years. METHODS: 121 SSc patients (100 F, 21 M) with mean age of 54.9 ± 13.8, disease duration of 9 ± 6 years, of which 62 had a diffused form and 59 limited form were enrolled...
May 10, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29757202/genome-sequences-of-akhmeta-virus-an-early-divergent-old-world-orthopoxvirus
#4
Jinxin Gao, Crystal Gigante, Ekaterine Khmaladze, Pengbo Liu, Shiyuyun Tang, Kimberly Wilkins, Kun Zhao, Whitni Davidson, Yoshinori Nakazawa, Giorgi Maghlakelidze, Marika Geleishvili, Maka Kokhreidze, Darin S Carroll, Ginny Emerson, Yu Li
Annotated whole genome sequences of three isolates of the Akhmeta virus (AKMV), a novel species of orthopoxvirus (OPXV), isolated from the Akhmeta and Vani regions of the country Georgia, are presented and discussed. The AKMV genome is similar in genomic content and structure to that of the cowpox virus (CPXV), but a lower sequence identity was found between AKMV and Old World OPXVs than between other known species of Old World OPXVs. Phylogenetic analysis showed that AKMV diverged prior to other Old World OPXV...
May 12, 2018: Viruses
https://www.readbyqxmd.com/read/29754903/gigantism-precedes-filter-feeding-in-baleen-whale-evolution
#5
R Ewan Fordyce, Felix G Marx
Baleen whales (Mysticeti) are the largest animals on Earth, thanks to their ability to filter huge volumes of small prey from seawater. Mysticetes appeared during the Late Eocene, but evidence of their early evolution remains both sparse and controversial [1, 2], with several models competing to explain the origin of baleen-based bulk feeding [3-6]. Here, we describe a virtually complete skull of Llanocetus denticrenatus, the second-oldest (ca. 34 Ma) mysticete known. The new material represents the same individual as the type and only specimen, a fragmentary mandible...
May 4, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29751847/asf1-is-required-to-load-histones-on-the-hira-complex-in-preparation-of-paternal-chromatin-assembly-at-fertilization
#6
Béatrice Horard, Laure Sapey-Triomphe, Emilie Bonnefoy, Benjamin Loppin
BACKGROUND: Anti-Silencing Factor 1 (ASF1) is a conserved H3-H4 histone chaperone involved in both Replication-Coupled and Replication-Independent (RI) nucleosome assembly pathways. At DNA replication forks, ASF1 plays an important role in regulating the supply of H3.1/2 and H4 to the CAF-1 chromatin assembly complex. ASF1 also provides H3.3-H4 dimers to HIRA and DAXX chaperones for RI nucleosome assembly. The early Drosophila embryo is an attractive system to study chromatin assembly in a developmental context...
May 11, 2018: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/29749644/-gigantic-biatrial-myxoma-with-right-heart-functional-impairment
#7
Julián Vega Adauy, Luigi Gabrielli, Samuel Córdova, Paul McNab, Rodrigo Saavedra, Marta Piñeiro, Ricardo Zalaquett
Cardiac myxomas are frequently located in the left or right atria, with multiple locations being rare. We report a 59-year-old healthy female with 5 months of cough and exertional dyspnea. A transthoracic echocardiography (TTE) exhibits a 9 × 5 cm nonpedunculated tumor arising from the interatrial septum (IAS) and inhabiting both atria, but was unable to depict the relation with the IAS. Transesophageal echocardiography exposes a single tumor crossing the IAS through an ostium secundum atrial septal defect (ASD) causing right heart functional impairment...
May 11, 2018: Echocardiography
https://www.readbyqxmd.com/read/29749074/colossal-negative-thermal-expansion-in-electron-doped-pbvo3-perovskites
#8
Hajime Yamamoto, Takashi Imai, Yuki Sakai, Masaki Azuma
Colossal negative thermal expansion (NTE) with a volume contraction of about 8%, the largest value reported so far for NTE materials, was observed in an electron-doped giant tetragonal perovskite compound Pb1-xBixVO3 (x = 0.2 and 0.3). A polar tetragonal (P4mm) to non-polar cubic structural transition took place upon heating. The coefficient of thermal expansion (CTE) and the working temperature could be tuned by changing the Bi content, and La substitution decreased the transition temperature to room temperature...
May 11, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29745872/effects-of-autonomic-dysfunction-on-exercise-tolerance-in-systemic-sclerosis-patients-without-clinical-and-instrumental-evidence-of-cardiac-and-pulmonary-involvement
#9
Marcello Di Paolo, Antonietta Gigante, Marta Liberatori, Liborio Sardo, Paolo Marinelli, Marco Rossetti, Paolo Palange, Luigi Tubani, Edoardo Rosato
OBJECTIVES: Autonomic dysfunction (AD) in systemic sclerosis (SSc) was already confirmed through heart rate variability (HRV) analysis. Cardio-pulmonary exercise testing (CPET) is a useful tool in early detection of exercise tolerance in SSc patients. Aim of the study was to assess the relationships existing between AD and exercise tolerance. METHODS: Thirty-two [4 M, 28 F; median age: 47.5 (20-65) years] consecutive SSc patients were enrolled. All patients underwent pulmonary function testing, incremental symptom-limited CPET and twenty-four hours ECG Holter recording with HRV analysis in time and frequency domain...
May 4, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29706736/deep-invasive-fungal-infection-of-the-hand-in-a-child-mimicking-a-local-gigantism
#10
Anirban Chatterjee, Shamita Chatterjee
Subcutaneous and deep fungal infections in the hand are rare among children. These are usually found in immunocompromised adults or in persons engaged in soil handling activities, due to direct exposure, especially in the tropics. Delay in diagnosis is usual because pyogenic and other granulomatous infections are considered first. The authors present the case of a healthy, immunocompetent 2½-year-old child who presented with progressive swelling of the right hand mimicking a localized gigantism of the entire hand...
April 2018: Journal of Hand and Microsurgery
https://www.readbyqxmd.com/read/29698787/bariatric-surgery-and-burnout-risks
#11
EDITORIAL
Radwan Kassir, Marc Gigante, Rani Kassir, Carole Pélissier
No abstract text is available yet for this article.
April 23, 2018: International Journal of Surgery
https://www.readbyqxmd.com/read/29694541/an-empirical-assessment-of-the-healthy-early-childhood-program-in-rio-grande-do-sul-state-brazil
#12
Felipe Garcia Ribeiro, Gisele Braun, André Carraro, Gibran da Silva Teixeira, Denise Petrucci Gigante
We investigate the effect of a family-based primary health care program (Healthly Early Childhood Program) on infant mortality in the state of Rio Grande do Sul, Brazil. We estimate infant mortality's counterfactual trajectories using the differences-in-differences approach, combined with the use of longitudinal data for all municipalities in the state of Rio Grande do Sul. Our main result is that the program reduced the number of deaths caused by external causes. The length of exposure to the program seems to potentiate the effects...
2018: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/29690477/pseudacanthicus-major-description-of-one-of-the-largest-known-loricariidae-hypostominae-ancistrini-a-species-from-rio-tocantins-basin-brazil
#13
Carine C Chamon, Thiago Costa E Silva
The genus Pseudacanthicus currently comprises the following six species distributed in the Amazon and Tocantins basins, and coastal drainages from Guyana to French Guyana: P. serratus, P. fordii, P. histrix, P. spinosus, P. leopardus, P. pitanga, and P. pirarara. Herein we describe P. major, from rio Tocantins basin, one of the largest loricariid species known. The new species is distinguished from its congeners by the following combination of characters: having body color pattern with dark brown background without spots or blotches and dorsal and caudal fins with transversal white bands; anterior process of compound pterotic with no contacting with the posterior margin of the orbit and by the absence of a conspicuous crest on the posterior edge of parieto-supraocciptal...
February 27, 2018: Zootaxa
https://www.readbyqxmd.com/read/29689805/rare-myodocopid-ostracods-from-mesozoic-sections-of-hungary-summary-revision-and-description-of-new-taxa
#14
EmŐke TÓth, TÜnde CsÉfÁn
With the exception of polycopids, Mesozoic myodocopid ostracods are regarded as uncommon in the fossil record. They are known from a few localities in the Tethys, and most of them are considered to be pelagic forms. However, a relatively rich and taxonomically diverse material is derived from Hungarian sections; these represent various formations deposited during the Triassic to Cretaceous.The aim of this study is to summarize the current knowledge of Mesozoic myodocopids and to provide new information concerning their classification and phylogenetic relations...
January 18, 2018: Zootaxa
https://www.readbyqxmd.com/read/29687311/correction-to-the-italian-dystonia-registry-rationale-design-and-preliminary-findings
#15
Giovanni Defazio, M Esposito, G Abbruzzese, C L Scaglione, G Fabbrini, G Ferrazzano, S Peluso, R Pellicciari, A F Gigante, G Cossu, R Arca, L Avanzino, F Bono, M R Mazza, L Bertolasi, R Bacchin, R Eleopra, C Lettieri, F Morgante, M C Altavista, L Polidori, R Liguori, S Misceo, G Squintani, M Tinazzi, R Ceravolo, E Unti, L Magistrelli, M Coletti Moja, N Modugno, M Petracca, N Tambasco, M S Cotelli, M Aguggia, A Pisani, M Romano, M Zibetti, A R Bentivoglio, A Albanese, P Girlanda, A Berardelli
In the original article, Gina Ferrazzano was affiliated to Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.The corrected affiliation should be: Neuromed Institute IRCCS, Pozzilli, IS, Italy.
April 18, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29686858/distinct-responses-of-soil-respiration-to-experimental-litter-manipulation-in-temperate-woodland-and-tropical-forest
#16
Laëtitia M Bréchet, Luis Lopez-Sangil, Charles George, Ali J Birkett, Catherine Baxendale, Biancolini Castro Trujillo, Emma J Sayer
Global change is affecting primary productivity in forests worldwide, and this, in turn, will alter long-term carbon (C) sequestration in wooded ecosystems. On one hand, increased primary productivity, for example, in response to elevated atmospheric carbon dioxide (CO 2 ), can result in greater inputs of organic matter to the soil, which could increase C sequestration belowground. On other hand, many of the interactions between plants and microorganisms that determine soil C dynamics are poorly characterized, and additional inputs of plant material, such as leaf litter, can result in the mineralization of soil organic matter, and the release of soil C as CO 2 during so-called "priming effects"...
April 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29678281/an-orphan-g-protein-coupled-receptor-causes-human-gigantism-and-or-acromegaly-molecular-biology-and-clinical-correlations
#17
REVIEW
Giampaolo Trivellin, Laura C Hernández-Ramírez, Jeremy Swan, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29675510/isolated-subscapularis-tendon-tear-in-a-skeletally-immature-soccer-player
#18
Paolo Avanzi, Luca Dei Giudici, Roberto Giovarruscio, Antonio Gigante, Claudio Zorzi
Subscapularis injury in adolescents, usually associated to an avulsion fracture of the lesser humeral tuberosity, accounts for less than 2% of all fractures of the proximal humerus. Isolated tears of the subscapularis tendon without a history of dislocation and associated avulsion fractures are an even rarer occurrence, and treatment is controversial. This article describes a rare case of a 12-year-old suffering from an isolated subscapularis tear and discusses its management. The patient was evaluated at presentation, and at 1 to 2...
March 2018: Joints
https://www.readbyqxmd.com/read/29652378/giant-enhancement-of-faraday-rotation-due-to-electromagnetically-induced-transparency-in-all-dielectric-magneto-optical-metasurfaces
#19
Aristi Christofi, Yuma Kawaguchi, Andrea Alù, Alexander B Khanikaev
In this Letter we introduce a new class of Fano-resonant all-dielectric metasurfaces for enhanced, high figure of merit magneto-optical response. The metasurfaces are formed by an array of magneto-optical bismuth-substituted yttrium iron garnet nano-disks embedded into a low-index matrix. The strong field enhancement in the magneto-optical disks, which results in over an order of magnitude enhancement of Faraday rotation, is achieved by engineering two (electric and magnetic) resonances. It is shown that while enhancement of rotation also takes place for spectrally detuned resonances, the resonant excitation inevitably results in stronger reflection and low figure of merit of the device...
April 15, 2018: Optics Letters
https://www.readbyqxmd.com/read/29650858/-a-case-of-unresectable-advanced-gastric-cancer-treated-by-seven-courses-of-chemotherapy-with-docetaxel-cisplatin-and-s-1followed-by-conversion-surgery-achieved-five-year-relapse-free-survival
#20
Tetsushi Nakajima, Haruhiko Cho, Yoichiro Okubo, Kazuki Kano, Yukio Maezawa, Kousuke Ikeda, Takanobu Yamada, Takashi Ogata, Takaki Yoshikawa
The patient is a 51-year-old man.Upper gastrointestinal endoscopy revealed gigantic type 3 gastric cancer.Enhanced abdominal CT demonstrated a gigantic mass of 15×7 cm in the stomach, and a large number of peritoneal dissemination with moderate amount of ascites.The patient was diagnosed with cT4aN3bM1(peritoneal dissemination), Stage IV gastric cancer(JPN ver8)and was treated by chemotherapy with docetaxel(40mg/m / 2 day 1)plus cisplatin(60mg/m2 day 1)plus S-1(80mg/m2 day 1-14).After 7 courses of chemotherapy, peritoneal dissemination was disappeared...
April 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
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