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https://www.readbyqxmd.com/read/28813576/joint-analysis-of-nuclear-and-mitochondrial-variants-in-age-related-macular-degeneration-identifies-novel-loci-trpm1-and-abhd2-rlbp1
#1
Patrice J Persad, Iris M Heid, Daniel E Weeks, Paul N Baird, Eiko K de Jong, Jonathan L Haines, Margaret A Pericak-Vance, William K Scott
Purpose: Presently, 52 independent nuclear single nucleotide polymorphisms (nSNPs) have been associated with age-related macular degeneration (AMD) but their effects do not explain all its variance. Genetic interactions between the nuclear and mitochondrial (mt) genome may unearth additional genetic loci previously unassociated with AMD risk. Methods: Joint effects of nSNPs and selected mtSNPs were analyzed by two degree of freedom (2df) joint tests of association in the International AMD Genomics Consortium (IAMDGC) dataset (17,832 controls and 16,144 advanced AMD cases of European ancestry)...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28813477/colonization-prevalence-and-antibiotic-susceptibility-of-group-b-streptococcus-in-pregnant-women-over-a-6-year-period-in-dongguan-china
#2
Wenjing Ji, Lihua Zhang, Zhusheng Guo, Shujin Xie, Weiqing Yang, Junjian Chen, Jiamin Wang, Zhiqin Cheng, Xin Wang, Xuehai Zhu, Jianwen Wang, Haiqing Wang, Juan Huang, Ning Liang, David J McIver
This study investigated the prevalence of recto-vaginal Group B Streptococcus (GBS) colonization, serotype distribution, and antimicrobial susceptibility patterns among pregnant women in Dongguan, China. Recto-vaginal swabs were collected from pregnant women at gestational age 35-37 weeks between January 1st 2009 and December 31st 2014. Isolates were serotyped by latex-agglutination and were tested against seven antimicrobials by disk diffusion. Of 7,726 pregnant women who completed GBS testing, 636 (8.2%) were GBS carriers...
2017: PloS One
https://www.readbyqxmd.com/read/28811895/long-term-rearrangement-of-retinal-structures-in-a-novel-mutation-of-x-linked-retinoschisis
#3
Stefano Piermarocchi, Stefania Miotto, Davide Colavito, Elda Del Giudice, Alberta Leon, Veronica Maritan, Rita Piermarocchi, Alma Patrizia Tormene
The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure. Two brothers with an early onset maculopathy were diagnosed with XLRS. Fundus photography, fluorescein angiography, spectral domain optical coherence tomography and electroretinogram analyses were performed. Their sister was also examined. All subjects were screened for mutations in the RS1 gene...
September 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28811712/association-between-cyp24a1-polymorphisms-and-the-risk-of-colonic-polyps-and-colon-cancer-in-a-chinese-population
#4
Xue-Qi Chen, Jia-Yu Mao, Wen-Bin Li, Jian Li, Hong Yang, Jia-Ming Qian, Jing-Nan Li
AIM: To determine the pathogenesis and potential single nucleotide polymorphisms (SNPs) as screening sites for colonic polyps, colon cancer and ulcerative colitis, and to analyze the possible association between these genetic polymorphisms and the three diseases. METHODS: We evaluated genetic polymorphisms in 144 newly diagnosed colonic polyp patients, 96 colon cancer patients and 44 ulcerative colitis patients. The four SNPs genotyped were rs4809957, rs6068816, rs6091822 and rs8124792...
July 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28811672/an-evaluation-of-the-in-vivo-safety-of-nonporous-silica-nanoparticles-ocular-topical-administration-versus-oral-administration
#5
Martha Kim, Joo-Hee Park, Hyejoong Jeong, Jinkee Hong, Woo Sung Choi, Byung-Han Lee, Choul Yong Park
Nonporous silica nanoparticles (SiNPs) have potential as promising carriers for ophthalmic drugs. However, the in vivo safety of ocular topical SiNPs remains unclear. This study investigated the in vivo safety of oral and ocular topical applications of 100 nm-sized SiNPs in Sprague-Dawley rats. The rats were divided into the following four groups: low-dose oral administration (total 100 mg/kg of SiNPs mixed with food for one week), high-dose oral administration (total 1000 mg/kg of SiNPs mixed with food for one week), ocular topical administration (10 mg/ml concentration, one drop, applied to the right eyes four times a day for one month), or a negative control (no SiNP treatment)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810931/a-comprehensive-regional-clinical-and-educational-ecpr-protocol-decreases-time-to-ecmo-in-patients-with-refractory-out-of-hospital-cardiac-arrest
#6
Brian Grunau, Sarah Carrier, Jamil Bashir, William Dick, Luke Harris, Robert Boone, Dan Kalla, Frank Scheuermeyer, Brian Twaites, Ron Straight, James Abel, Ken McDonald, Ruth MacRedmond, David Agulnik, Joe Finkler, Jeanne MacLeod, Jim Christenson, Anson Cheung
OBJECTIVE: Extracorporeal membrane oxygenation within CPR (ECPR) may improve survival for refractory out-of-hospital cardiac arrest (OHCA). We developed a prehospital, emergency department (ED), and hospital-based clinical and educational protocol to improve the key variable of time-to-ECPR (TTE). METHODS: In a single urban health region we involved key prehospital, clinical, and administrative stakeholders over a 2-year period, to develop a regional ECPR program with destination to a single urban tertiary care hospital...
August 16, 2017: CJEM
https://www.readbyqxmd.com/read/28805713/polyaspartamide-based-nanoparticles-loaded-with-fluticasone-propionate-and-the-in-vitro-evaluation-towards-cigarette-smoke-effects
#7
Emanuela Fabiola Craparo, Maria Ferraro, Elisabetta Pace, Maria Luisa Bondì, Gaetano Giammona, Gennara Cavallaro
This paper describes the evaluation of polymeric nanoparticles (NPs) as a potential carrier for lung administration of fluticasone propionate (FP). The chosen polymeric material to produce NPs was a copolymer based on α,β-poly(N-2-hydroxyethyl)-d,l-aspartamide (PHEA) whose backbone was derivatised with different molecules, such as poly(lactic acid) (PLA) and polyethylenglycol (PEG). The chosen method to produce NPs from PHEA-PLA-PEG2000 was the method based on high-pressure homogenization and subsequent solvent evaporation by adding Pluronic F68 during the process and trehalose before lyophilisation...
August 13, 2017: Nanomaterials
https://www.readbyqxmd.com/read/28803020/a-missense-mutation-in-pfas-phosphoribosylformylglycinamidine-synthase-is-likely-causal-for-embryonic-lethality-associated-with-the-mh1-haplotype-in-montb%C3%A3-liarde-dairy-cattle
#8
Pauline Michot, Sébastien Fritz, Anne Barbat, Mekki Boussaha, Marie-Christine Deloche, Cécile Grohs, Chris Hoze, Laurène Le Berre, Daniel Le Bourhis, Olivier Desnoes, Pascal Salvetti, Laurent Schibler, Didier Boichard, Aurélien Capitan
A candidate mutation in the sex hormone binding globulin gene was proposed in 2013 to be responsible for the MH1 recessive embryonic lethal locus segregating in the Montbéliarde breed. In this follow-up study, we excluded this candidate variant because healthy homozygous carriers were observed in large-scale genotyping data generated in the framework of the genomic selection program. We fine mapped the MH1 locus in a 702-kb interval and analyzed genome sequence data from the 1,000 bull genomes project and 54 Montbéliarde bulls (including 14 carriers and 40 noncarriers)...
August 9, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28802628/physical-activity-domains-and-cognitive-function-over-three-years-in-older-adults-with-subjective-memory-complaints-secondary-analysis-from-the-mapt-trial
#9
Philipe de Souto Barreto, Sandrine Andrieu, Yves Rolland, Bruno Vellas
OBJECTIVES: We aimed to examine the associations of physical activity (PA) domains (i.e., PA in leisure-time (LTPA), for housework (HPA), or for gardening (GPA)) with cognitive function in older adults with subjective memory complaints (no-dementia) and to investigate if those associations were dependent on the status of apolipoprotein E allele 4 (APOE4), omega-3 levels and mild cognitive impairment (MCI). DESIGN: Observational prospective secondary analysis using longitudinal data from a randomized controlled trial...
July 26, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28800871/malignant-pleural-mesothelioma-state-of-the-art-and-advanced-cell-therapy
#10
Giorgio Facchetti, Francesco Petrella, Lorenzo Spaggiari, Isabella Rimoldi
Malignant Pleural Mesothelioma (MPM) is an aggressive malignancy highly resistant to chemotherapy, with a response rate of 20% of patients and for this reason an efficient treatment is still a challenge. Platinum-based chemotherapy in association with a third-generation antifolate is the front-line standard of care whereas any second-line treatment was approved for MPM thus making it a pathology that evokes the need for new therapeutic agents. Different platinum-drugs were synthesised and tested as an option for patients who are not candidates to cisplatin-based therapy...
August 2, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28800331/alzheimer-s-disease-biomarkers-interactively-influence-physical-activity-mobility-and-cognition-associations-in%C3%A2-a%C3%A2-non-demented-aging-population
#11
Sherilyn Thibeau, G Peggy McFall, Richard Camicioli, Roger A Dixon
BACKGROUND: Alzheimer's disease (AD) risk-reduction strategies (e.g., increasing physical activity, improving mobility) have garnered increasing attention in the literature. However, the effect of such modifiable factors on the preclinical trajectories of brain and cognitive health may be moderated by non-modifiable biomarkers associated with AD. OBJECTIVE: In a longitudinal sample of non-demented older adults, we examine the independent predictors everyday physical activity (EPA) and mobility on executive function (EF) performance and change...
August 8, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28800150/heterozygosity-for-p2y12-receptor-gene-mutation-associated-with-postoperative-hemorrhage-in-a-greater-swiss-mountain-dog
#12
Rebecca S Flores, Mary K Boudreaux, Barbara Vasquez, Poppy Bristow, Lillian R Aronson, Kari Santoro-Beer, Mary Beth Callan
A 3-year-old, female Greater Swiss Mountain dog developed a hemoperitoneum following an exploratory laparotomy and ovariohysterectomy. Platelet count, PT, APTT, and plasma von Willebrand factor antigen concentration were within RIs. A buccal mucosal bleeding time (BMBT) was prolonged. Given the probability of a hereditary thrombopathia, the dog was administered desmopressin, fresh platelet transfusions, and aminocaproic acid to control hemorrhage. Subsequently, DNA testing for the P2Y12 receptor gene mutation identified the dog as being a heterozygote (carrier)...
August 11, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28797532/assessment-of-in-vitro-antifungal-efficacy-and-in-vivo-toxicity-of-amphotericin-b-loaded-plga-and-plga-peg-blend-nanoparticles
#13
T C Moraes Moreira Carraro, C Altmeyer, N Maissar Khalil, R Mara Mainardes
Amphotericin B (AmB) is widely applied in treatment of systemic fungal infections. However, the emergence of severe adverse effects, such as nephrotoxicity, hepatotoxicity and hemolytic anemia, can limit its clinical use. Poly(lactide-co-glycolide) (PLGA) or poly(lactide-co-glycolide)-poly(ethylene glycol) (PLGA-PEG) blend nanoparticles containing AmB were developed with the aim to decrease AmB toxicity and propose the oral route for AmB delivery. Nanoparticles were characterized by particle size, polydispersity index, Fourier transform infrared spectroscopy, differential scanning calorimetry and X-ray diffraction analyses...
August 7, 2017: Journal de Mycologie Médicale
https://www.readbyqxmd.com/read/28795538/association-between-remote-major-venous-thromboembolism-risk-factors-and-the-risk-of-recurrence-after-a-first-unprovoked-episode
#14
L Farren-Dai, M Carrier, J Kovacs, M Rodger, M J Kovacs, G Le Gal
BACKGROUND: It has been shown that the risk of recurrence of venous thromboembolism (VTE) is significantly lower when provoked by a major risk factor such as surgery or trauma compared to an event that was unprovoked. OBJECTIVES: In this study we aimed to assess the association between remote exposure (3-12 months prior to VTE) to major VTE risk factors and the risk of recurrent VTE. METHODS: A post-hoc analysis of the REVERSE study, a prospective cohort of 646 patients with a first VTE, not provoked by a recent (< 3 months) major risk factor...
August 10, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28795466/reduced-prevalence-of-hepatitis-b-surface-antigen-positivity-among-pregnant-women-born-after-the-national-implementation-of-immunoprophylaxis-for-babies-born-to-hepatitis-b-virus-carrier-mothers-in-japan
#15
Aya Sugiyama, Masayuki Ohisa, Shintaro Nagashima, Chikako Yamamoto, Chuon Channarena, Toshiko Fujii, Tomoyuki Akita, Keiko Katayama, Yoshiki Kudo, Junko Tanaka
AIM: We aimed to estimate hepatitis B surface antigen (HBsAg) positivity among birth year-stratified pregnant women in Hiroshima, Japan, and compare prevalence rates among women between born before and after implementation of a national immunoprophylactic vaccination program for babies born to hepatitis B virus (HBV) carrier mothers in Japan. METHODS: Pregnant women who gave birth at all delivery hospitals/clinics in Hiroshima prefecture between April 1, 2010 and March 31, 2011 were eligible...
August 9, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28794451/vitamin-b12-as-a-carrier-of-peptide-nucleic-acid-pna-into-bacterial-cells
#16
Marcin Równicki, Monika Wojciechowska, Aleksandra J Wierzba, Jakub Czarnecki, Dariusz Bartosik, Dorota Gryko, Joanna Trylska
Short modified oligonucleotides targeted at bacterial DNA or RNA could serve as antibacterial agents provided that they are efficiently taken up by bacterial cells. However, the uptake of such oligonucleotides is hindered by the bacterial cell wall. To overcome this problem, oligomers have been attached to cell-penetrating peptides, but the efficiency of delivery remains poor. Thus, we have investigated the ability of vitamin B12 to transport peptide nucleic acid (PNA) oligomers into cells of Escherichia coli and Salmonella Typhimurium...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28791521/online-module-for-carrier-screening-in-ashkenazi-jewish-individuals-compared-with-in-person-genetics-education-a-randomized-controlled-trial
#17
Chia Wei Fan, Lysanne Castonguay, Sonja Rummell, Sébastien Lévesque, John J Mitchell, Guillaume Sillon
To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA...
August 9, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28790208/pathogenicity-locus-core-genome-and-accessory-gene-contributions-to-clostridium-difficile-virulence
#18
Brittany B Lewis, Rebecca A Carter, Lilan Ling, Ingrid Leiner, Ying Taur, Mini Kamboj, Erik R Dubberke, Joao Xavier, Eric G Pamer
Clostridium difficile is a spore-forming anaerobic bacterium that causes colitis in patients with disrupted colonic microbiota. While some individuals are asymptomatic C. difficile carriers, symptomatic disease ranges from mild diarrhea to potentially lethal toxic megacolon. The wide disease spectrum has been attributed to the infected host's age, underlying diseases, immune status, and microbiome composition. However, strain-specific differences in C. difficile virulence have also been implicated in determining colitis severity...
August 8, 2017: MBio
https://www.readbyqxmd.com/read/28790154/ckm-glu83gly-is-associated-with-blunted-creatine-kinase-variation-but-not-with-myalgia
#19
Moneeza Kalhan Siddiqui, Abirami Veluchamy, Cyrielle Maroteau, Roger Tavendale, Fiona Carr, Ewan Pearson, Helen Colhoun, Andrew D Morris, Jacob George, Alexander Doney, Munir Pirmohamed, Ana Alfirevic, Mia Wadelius, Anke H Maitland van der Zee, Paul M Ridker, Daniel I Chasman, Colin N A Palmer
BACKGROUND: To test the association of a recently reported variant in the creatine kinase (CK) muscle gene, CKM Glu83Gly (rs11559024) with constitutive creatine phosphokinase (CK) levels, CK variation, and inducibility. Given the diagnostic importance of CK in determining muscle damage, we tested the association of the variant with myalgia. METHODS AND RESULTS: Meta-analysis between longitudinal cohort GoDARTS (Genetics of Diabetes Audit and Research, Tayside Scotland), minor allele frequency (=0...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28783781/plastic-biofilm-carrier-after-corn-cobs-reduces-nitrate-loading-in-laboratory-denitrifying-bioreactors
#20
Gary W Feyereisen, Laura E Christianson, Thomas B Moorman, Rodney T Venterea, Jeffrey A Coulter
Nitrate-nitrogen (nitrate-N) removal rates can be increased substantially in denitrifying bioreactors with a corn ( L.) cob bed medium compared with woodchips; however, additional organic carbon (C) is released into the effluent. This laboratory column experiment was conducted to test the performance of a postbed chamber of inert plastic biofilm carrier (PBC) after corn cobs (CC) to extend the area of biofilm colonization, enhance nitrate-N removal, lower total organic C losses, and reduce nitrous oxide (NO) production at warm (15...
July 2017: Journal of Environmental Quality
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