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https://www.readbyqxmd.com/read/29141310/-analysis-of-gene-mutation-of-early-onset-epileptic-spasm-with-unknown-reason
#1
X Yang, G Pan, W H Li, L M Zhang, B B Wu, H J Wang, P Zhang, S Z Zhou
Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141279/efficacy-of-stiripentol-in-dravet-syndrome-with-or-without-scn1a-mutations
#2
Min Jung Cho, Soon Sung Kwon, Ara Ko, Seung Tae Lee, Young Mock Lee, Heung Dong Kim, Hee Jung Chung, Se Hee Kim, Joon Soo Lee, Dae Sung Kim, Hoon Chul Kang
BACKGROUND AND PURPOSE: The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A). METHODS: We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and classified them into mutation (pathogenic or likely pathogenic) and nonmutation groups based on American College of Medical Genetics and Genomics guidelines...
October 31, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29141266/-impact-of-abdominal-ultrasound-on-the-identification-of-the-site-of-infection-in-the-emergency-department-analysis-whether-it-makes-sense-to-perform-abdominal-ultrasound-examination-for-the-identfication-of-the-site-of-infection-if-medical-history-and-clinical
#3
Barbara Werkmeister, Julia Langgartner, Doris Schacherer, Arno Mohr
Introduction A very high number of patients presenting in emergency departments suffer from an unknown infection or rather fever. If diagnostic imaging is necessary ultrasound can be performed. Whether ultrasound is superior to medical history and clinical examination considering the significantly enhanced technology in recent years and hence has to be performed in patients without abdominal symptoms with non-obvious focus cannot be answered by review of the literature. The objective of this study was to evaluate the relevance of abdominal ultrasound in the determination of the site of infection and to analyse whether an abdominal ultrasound for the identification of the source of infection is dispensable in patients in whom history and clinical examination do not indicate an abdominal focus...
November 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29141265/-hbv-infections-in-germany-health-care-costs-in-a-real-life-setting
#4
Jona Theodor Stahmeyer, Hans Becker, Anna Lena Orlemann, Christian Krauth, Michael P Manns, Heiner Wedemeyer
Background An estimated 500 000 people are infected with hepatitis B in Germany, inducing an enormous burden on infected patients and the health care system. The aim of our study was to estimate the real-life costs of treating hepatitis B and to analyze sociodemographic factors. Methods We conducted a retrospective, non-interventional, single-center study from 07/2009 to 12/2012. Information on health care delivery was extracted from patient records. Besides that, a questionnaire survey regarding sociodemographic parameters and quality of life of HBV-infected patients was performed...
November 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29141207/distinct-terb1-domains-regulate-different-protein-interactions-in-meiotic-telomere-movement
#5
Jingjing Zhang, Zhaowei Tu, Yoshinori Watanabe, Hiroki Shibuya
Meiotic telomeres attach to the nuclear envelope (NE) and drive the chromosome movement required for the pairing of homologous chromosomes. The meiosis-specific telomere proteins TERB1, TERB2, and MAJIN are required to regulate these events, but their assembly processes are largely unknown. Here, we developed a germ-cell-specific knockout mouse of the canonical telomere-binding protein TRF1 and revealed an essential role for TRF1 in directing the assembly of TERB1-TERB2-MAJIN. Further, we identified a TERB2 binding (T2B) domain in TERB1 that is dispensable for the TRF1-TERB1 interaction but is essential for the subsequent TERB1-TERB2 interaction and therefore for telomere attachment to the NE...
November 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/29141205/investigation-of-alimentary-canal-ultrastructure-following-knockdown-of-the-dicer-2-gene-in-planthoppers-reveals-the-potential-pathogenicity-of-southern-rice-black-streaked-dwarf-virus-to-its-insect-vector
#6
Yuyan Liu, Qianzhuo Mao, Hanhong Lan, Haitao Wang, Taiyun Wei, Qian Chen
An increasing number of studies are suggesting that plant viruses, including southern rice black-streaked dwarf virus (SRBSDV), can adversely affect biological characteristics of insect vectors by unknown mechanisms. To study the adverse effect of SRBSDV at cellular level on the insect vector, we promoted viral infection by the disruption of the small interfering RNA (siRNA) pathway. The transmission electron microscopy was utilized to describe the ultrastructural changes that occurred in insects when the core component of the siRNA pathway, Dicer-2, was knocked down...
November 12, 2017: Virus Research
https://www.readbyqxmd.com/read/29141200/phosgene-oxime-injury-and-associated-mechanisms-compared-to-vesicating-agents-sulfur-mustard-and-lewisite
#7
Dinesh Giri Goswami, Rajesh Agarwal, Neera Tewari-Singh
Phosgene Oxime (CX, Cl2CNOH), a halogenated oxime, is a potent chemical weapon that causes immediate acute injury and systemic effects. CX, grouped together with vesicating agents, is an urticant or nettle agent with highly volatile, reactive, corrosive, and irritating vapor, and has considerably different chemical properties and toxicity compared to other vesicants. CX is absorbed quickly through clothing with faster cutaneous penetration compared to other vesicating agents causing instantaneous and severe damage...
November 12, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/29141175/sudden-cardiac-arrest-during-participation-in-competitive-sports
#8
Cameron H Landry, Katherine S Allan, Kim A Connelly, Kris Cunningham, Laurie J Morrison, Paul Dorian
BACKGROUND: The incidence of sudden cardiac arrest during participation in sports activities remains unknown. Preparticipation screening programs aimed at preventing sudden cardiac arrest during sports activities are thought to be able to identify at-risk athletes; however, the efficacy of these programs remains controversial. We sought to identify all sudden cardiac arrests that occurred during participation in sports activities within a specific region of Canada and to determine their causes...
November 16, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29140951/platelet-aggregation-after-blunt-trauma-is-associated-with-the-acute-respiratory-distress-syndrome-and-altered-by-cigarette-smoke-exposure
#9
Farzad Moazed, Carolyn Hendrickson, Mary Nelson, Amanda Conroy, Mitchell J Cohen, Carolyn S Calfee
BACKGROUND: The risk of the acute respiratory distress syndrome (ARDS) is increased in passive and active smokers after blunt trauma. However, the mechanisms responsible, including the role of platelet aggregation, for this association are unknown. METHODS: We analyzed 215 patients with severe blunt trauma from a prospective observational cohort at a Level 1 trauma center between 2010 - 2015. Subjects underwent impedance-based platelet aggregometry in response to platelet agonists arachidonic acid (ASPI), adenosine diphosphate (ADP), collagen (COL) and thrombin receptor activating peptide-6 (TRAP)...
November 14, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29140936/increased-kawasaki-disease-incidence-associated-with-higher-precipitation-and-lower-temperatures-japan-1991-2004
#10
Joseph Y Abrams, Jennifer L Blase, Ermias B Belay, Ritei Uehara, Ryan A Maddox, Lawrence B Schonberger, Yosikazu Nakamura
BACKGROUND: Kawasaki disease (KD) is an acute febrile vasculitis which primarily affects children. The etiology of KD is unknown: while certain characteristics of the disease suggest an infectious origin, genetic or environmental factors may also be important. Seasonal patterns of KD incidence are well-documented, but it is unclear whether these patterns are caused by changes in climate or by other unknown seasonal effects. METHODS: The relationship between KD incidence and deviations from expected temperature and precipitation were analyzed using KD incidence data from Japanese nationwide epidemiological surveys (1991-2004) and climate data from 136 weather stations of the Japan Meteorological Agency...
November 14, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29140929/tactile-acuity-dys-function-in-acute-nociceptive-low-back-pain-a-doubleblind-experiment
#11
Wacław M Adamczyk, Oskar Saulicz, Edward Saulicz, Kerstin Luedtke
Research shows that chronic pain is related to cortical alterations that can be reflected in reduced tactile acuity, but whether acute pain perception influences tactile acuity has not been tested. Considering the biological role of nociception, it was hypothesized that nociceptive pain will lead to a rapid improvement in tactile acuity and that this effect is correlated with pain intensity and pain distribution. In this randomised double-blind controlled experiment (trial no. NCT03021278), healthy participants were exposed to one of three experimental conditions: acute, nociceptive low back pain induced by saline injection, a sham-injection (without piercing the skin) potentially inducing nocebo pain, or no intervention...
November 13, 2017: Pain
https://www.readbyqxmd.com/read/29140911/effect-of-bench-press-load-knowledge-on-repetitions-rpe-and-attentional-focus
#12
Christina M Beaudoin, Zachary Cox, Tyler Dundore, Tayler Thomas, Johnathon Kim, Daniel Pillivant
Few studies have examined the role of the teleoanticipation during resistance training. The purpose of this study was to examine the effect of bench press (BP) load knowledge on repetitions completed, ratings of perceived exertion (RPE), and attentional focus (%associative). Thirty-six recreationally active resistance trained men (n = 25) and women (n = 11) participated in this study (age= 20.97 + 1.87 yrs; ht 174.12 + 9.41 cm; mass 80.14 + 14.03 kg). All subjects completed three testing sessions: 1) One-repetition maximum (1RM) BP determination; 2) Submaximal BP repetitions to fatigue known load (KL); 3) Submaximal BP repetitions to fatigue unknown load (UL)...
November 10, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/29140910/polygenic-profile-and-exercise-induced-muscle-damage-by-a-competitive-half-ironman
#13
Juan Del Coso, Juan J Salinero, Beatriz Lara, César Gallo-Salazar, Francisco Areces, David Herrero, Carlos Puente
Del Coso, J, Salinero, JJ, Lara, B, Gallo-Salazar, C, Areces, F, Herrero, D, and Puente, C. Polygenic profile and exercise-induced muscle damage by a competitive half-ironman. J Strength Cond Res XX(X): 000-000, 2017-To date, it is still unknown why some individuals develop higher levels of muscle damage than other individuals, despite participating in exercise with comparable levels of physical intensity. The aim of this investigation was to analyze 7 single-nucleotide polymorphisms (SNPs) that are candidates to explain individual variations in the level of muscle damage attained during a half-ironman competition...
November 14, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/29140870/a-retrospective-assessment-of-postoperative-bleeding-complications-in-anticoagulated-patients-following-mohs-micrographic-surgery
#14
Robert E Eilers, Alina Goldenberg, Natasha L Cowan, Pallavi Basu, Shang I Brian Jiang
BACKGROUND: A significant number of patients undergoing Mohs micrographic surgery (MMS) for skin cancer are treated with oral anticoagulants. The incidence of postoperative complications associated with new classes of oral anticoagulants remains largely unknown. OBJECTIVE: To determine the incidence of postoperative complications in patients undergoing MMS on both traditional oral anticoagulants and new novel oral anticoagulants. MATERIALS AND METHODS: A single-center retrospective chart review was performed for all patients treated with oral anticoagulants who underwent MMS between July 1, 2012 and June 30, 2015 at University of California, San Diego...
November 14, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/29140787/tgf-%C3%AE-requires-the-activation-of-canonical-and-non-canonical-signalling-pathways-to-induce-skeletal-muscle-atrophy
#15
Johanna Ábrigo, Fabian Campos, Felipe Simon, Claudia Riedel, Daniel Cabrera, Cristian Vilos, Claudio Cabello-Verrugio
The transforming growth factor type beta (TGF-β) induces skeletal muscle atrophy characterized by a decrease in fiber's diameter and levels of myosin heavy chain (MHC), also as an increase of MuRF-1 expression. In addition, TGF-β induces muscle atrophy by a mechanism dependent on reactive oxygen species (ROS). TGF-β signals by activating both canonical Smad-dependent, and non-canonical signalling pathways such as ERK1/2, JNK1/2, and p38 MAPKs. However, the participation of canonical and non-canonical signalling pathways in the TGF-β atrophic effect on skeletal muscle is unknown...
August 28, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/29140774/anal-cancer-risk-among-people-with-hiv-infection-in-the-united-states
#16
Vivian Colón-López, Meredith S Shiels, Mark Machin, Ana P Ortiz, Howard Strickler, Philip E Castle, Ruth M Pfeiffer, Eric A Engels
Purpose People with HIV infection have an elevated risk of anal cancer. However, recent calendar trends are incompletely described, and which population subgroups might benefit from cancer screening is unknown. Methods We used linked data from HIV and cancer registries in nine US areas (1996 to 2012). We calculated standardized incidence ratios to compare anal cancer incidence in people with HIV infection with the general population, used Poisson regression to evaluate anal cancer incidence among subgroups of people with HIV and to assess temporal trends, and estimated the cumulative incidence of anal cancer to measure absolute risk...
November 15, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29140745/passage-of-campylobacter-jejuni-and-campylobacter-coli-subtypes-through-0-45-and-0-65-micrometer-pore-size-nitrocellulose-filters
#17
Mark E Berrang, Richard J Meinersmann, Nelson A Cox
Campylobacter can be difficult to recover from complex samples due to overgrowth by background bacteria. A 0.45- or 0.65-μm-pore-size filter overlaid on agar plates can be used as a means to separate Campylobacter from confounding non-Campylobacter cells, facilitating detection on solid plating media. It is unclear what percentage of cells in a Campylobacter suspension passes through a filter and results in visible colonies. The objective of this study was to compare the number of Campylobacter cells detected by the filter method with those detected by direct plating and determine if the filter method can be used to estimate cellular density of an unknown Campylobacter in suspension...
November 15, 2017: Journal of Food Protection
https://www.readbyqxmd.com/read/29140744/evaluation-of-two-surface-sampling-methods-for-microbiological-and-chemical-analyses-to-assess-the-presence-of-biofilms-in-food-companies
#18
Sharon Maes, Son Nguyen Huu, Marc Heyndrickx, Stephanie van Weyenberg, Hans Steenackers, Alex Verplaetse, Thijs Vackier, Imca Sampers, Katleen Raes, Koen De Reu
Biofilms are an important source of contamination in food companies, yet the composition of biofilms in practice is still mostly unknown. The chemical and microbiological characterization of surface samples taken after cleaning and disinfection is very important to distinguish free-living bacteria from the attached bacteria in biofilms. In this study, sampling methods that are potentially useful for both chemical and microbiological analyses of surface samples were evaluated. In the manufacturing facilities of eight Belgian food companies, surfaces were sampled after cleaning and disinfection using two sampling methods: the scraper-flocked swab method and the sponge stick method...
November 15, 2017: Journal of Food Protection
https://www.readbyqxmd.com/read/29140634/combustibility-determination-for-cotton-gin-dust-and-almond-huller-dust
#19
Sidney E Hughs, Phillip J Wakelyn
It has been documented that some dusts generated while processing agricultural products, such as grain and sugar, can constitute combustible dust hazards. After a catastrophic dust explosion in a sugar refinery in 2008, the Occupational Safety and Health Administration (OSHA) initiated action to develop a mandatory standard to comprehensively address the fire and explosion hazards of combustible dusts. Cotton fiber and related materials from cotton ginning, in loose form, can support smoldering combustion if ignited by an outside source...
April 26, 2017: Journal of Agricultural Safety and Health
https://www.readbyqxmd.com/read/29140551/b-cell-receptor-repertoire-sequencing-in-patients-with-primary-immunodeficiency-a-review
#20
REVIEW
Marie Ghraichy, Jacob D Galson, Dominic F Kelly, Johannes Trück
The advent of next-generation sequencing now allows a detailed assessment of the adaptive immune system in health and disease. In particular, high-throughput B-cell receptor (BCR) repertoire sequencing provides detailed information about the functionality and abnormalities of the B-cell system. However, it is mostly unknown how the BCR repertoire is altered in the context of primary immunodeficiencies (PID) and whether findings are consistent across phenotypes and genotypes. We have performed an extensive literature search of the published work on BCR repertoire sequencing in PID patients, including several forms of predominantly antibody disorders and combined immunodeficiencies...
November 15, 2017: Immunology
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