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https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#1
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528482/evertor-muscle-activity-as-a-predictor-for-recurrence-in-idiopathic-clubfoot
#2
Perajit Eamsobhana, Pipat Kongwachirapaitoon, Kamolporn Kaewpornsawan
BACKGROUND: Clubfoot is a complex three-dimensional deformity. Although brace compliance after initial correction was previously found to be significantly associated with recurrence in clubfoot, few previous studies have specifically examined evertor muscle function as a factor that contributes to recurrence in children with idiopathic and non-idiopathic clubfoot. The aim of this study was to investigate the relationship among brace compliance, evertor muscle grading, and recurrence rate in pediatric clubfoot patients...
May 20, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28528456/pharmacologic-treatment-of-dyslipidemia-in-diabetes-a-case-for-therapies-in-addition-to-statins
#3
REVIEW
Abeer Anabtawi, Patrick M Moriarty, John M Miles
PURPOSE OF REVIEW: The purpose of the study is to review the use of statins and the role of both non-statin lipid-lowering agents and diabetes-specific medications in the treatment of diabetic dyslipidemia. RECENT FINDINGS: Statins have a primary role in the treatment of dyslipidemia in people with type 2 diabetes, defined as triglyceride levels >200 mg/dl and HDL cholesterol levels <40 mg/dL. A number of clinical trials suggest that treatment with a fibrate may reduce cardiovascular events...
July 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28528454/new-insights-into-pericarditis-mechanisms-of-injury-and-therapeutic-targets
#4
REVIEW
Bo Xu, Serge C Harb, Paul C Cremer
PURPOSE OF REVIEW: This review article aims to provide a contemporary insight into the pathophysiological mechanisms of and therapeutic targets for pericarditis, drawing distinction between autoinflammatory and autoimmune pericarditis. RECENT FINDINGS: Recent research has focused on the distinction between autoinflammatory and autoimmune pericarditis. In autoinflammatory pericarditis, viruses can activate the sensor molecule of the inflammasome, which results in downstream release of cytokines, such as interleukin-1, that recruit neutrophils and macrophages to the site of injury...
July 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28528446/microsolvation-effects-on-the-reactivity-of-oxy-nucleophiles-the-case-of-gas-phase-sn2-reactions-of-yo-ch3oh-n-1-2-towards-ch3cl
#5
Liu Yun-Yun, Qiu Fang-Zhou, Zhu Jun, Ren Yi, Lau Kai-Chung
The modified G4(MP2) method was applied to explore microsolvation effects on the reactivity of four solvated normal oxy-nucleophiles YO(-)(CH3OH) n=1,2 (Y = CH3, C2H5, FC2H4, ClC2H4), and five α-oxy-nucleophiles YO(-)(CH3OH) n=1,2 (Y = HO, CH3O, F, Cl, Br), in gas-phase SN2 reactions towards the substrate CH3Cl. Based on a Brønsted-type plot, our calculations reveal that the overall activation barriers of five microsolvated α-oxy-nucleophiles are obviously smaller than the prediction from the correlation line constructed by four normal microsolvated ones to different degrees, and clearly demonstrate the existence of an α-effect in the presence of one or two methanol molecule(s)...
June 2017: Journal of Molecular Modeling
https://www.readbyqxmd.com/read/28528442/herpesvirus-capsid-assembly-and-dna-packaging
#6
Jason D Heming, James F Conway, Fred L Homa
Herpes simplex virus type I (HSV-1) is the causative agent of several pathologies ranging in severity from the common cold sore to life-threatening encephalitic infection. During productive lytic infection, over 80 viral proteins are expressed in a highly regulated manner, resulting in the replication of viral genomes and assembly of progeny virions. The virion of all herpesviruses consists of an external membrane envelope, a proteinaceous layer called the tegument, and an icosahedral capsid containing the double-stranded linear DNA genome...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28528433/hydrolysis-of-phosphatidylcholine-isoprostanes-ptdcho-ip-by-peripheral-human-group-iia-v-and-x-secretory-phospholipases-a2-spla2
#7
Arnis Kuksis, Waldemar Pruzanski
Biologically active F- and E/D-type-prostane ring isomers (F2-IP and E2/D2-IP, respectively) are produced in situ by non-enzymatic peroxidation of arachidonic acid esterified to GroPCho (PtdCho-IP) and are universally distributed in tissue lipoproteins and cell membranes. Previous work has shown that platelet-activating factor acetylhydrolases (PAF-AH) are the main endogenous PLA2 involved in degradation of PtdCho-IP. The present study shows that the PtdCho-IP are also subject to hydrolysis by group IIA, V and X secretory PLA2, which also have a wide peripheral tissue distribution...
May 20, 2017: Lipids
https://www.readbyqxmd.com/read/28528424/trps1-gene-alterations-in-human-subependymoma
#8
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, Donald A Ross, Karl Heinimann
Subependymoma is a rare primary brain tumor, constituting 0.07-0.51% of brain tumors. Genetic alterations in subependymoma are largely unknown, but familial occurrences have been reported. Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12. We report two patients with TRPS I and surgically treated subependymomas, one of whom has a first degree relative, now deceased, who was affected and also had a subependymoma...
May 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28528401/cardiovascular-disease-biomarkers-are-associated-with-declining-renal-function-in-type-2-diabetes
#9
Sara J Jenks, Bryan R Conway, Stela McLachlan, Wei Leng Teoh, Rachel M Williamson, David J Webb, Paul Welsh, Naveed Sattar, Mark W J Strachan, Jackie F Price
AIMS/HYPOTHESIS: We investigated whether biochemical cardiovascular risk factors and/or markers of subclinical cardiovascular disease were associated with the development of reduced renal function in people with type 2 diabetes. METHODS: A cohort of 1066 Scottish men and women aged 60-74 years with type 2 diabetes from the Edinburgh Type 2 Diabetes Study were followed up for a median of 6.7 years. New-onset reduced renal function was defined as two eGFRs <60 ml(-1) min(-1) (1...
May 20, 2017: Diabetologia
https://www.readbyqxmd.com/read/28528375/hypothalamic-signaling-in-body-fluid-homeostasis-and-hypertension
#10
REVIEW
Brian J Kinsman, Haley N Nation, Sean D Stocker
PURPOSE OF REVIEW: The central nervous system plays a pivotal role in the regulation of extracellular fluid volume and consequently arterial blood pressure. Key hypothalamic regions sense and integrate neurohumoral signals to subsequently alter intake (thirst and salt appetite) and output (renal excretion via neuroendocrine and autonomic function). Here, we review recent findings that provide new insight into such mechanisms that may represent new therapeutic targets. RECENT FINDINGS: Implementation of cutting edge neuroscience approaches such as opto- and chemogenetics highlight pivotal roles of circumventricular organs to impact body fluid homeostasis...
June 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28528373/the-association-between-primary-source-of-healthcare-coverage-and-colorectal-cancer-screening-among-us-veterans
#11
Folasade P May, Elizabeth M Yano, Dawn Provenzale, W Neil Steers, Donna L Washington
BACKGROUND: Colorectal cancer (CRC) is a deadly but largely preventable disease. Screening improves outcomes, but screening rates vary across healthcare coverage models. In the Veterans Health Administration (VA), screening rates are high; however, it is unknown how CRC screening rates compare for Veterans with other types of healthcare coverage. AIMS: To determine whether Veterans with Veteran-status-related coverage (VA, military, TRICARE) have higher rates of CRC screening than Veterans with alternate sources of healthcare coverage...
May 20, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28528368/preparation-of-allogeneic-bone-for-alveolar-ridge-augmentation
#12
Kornel Krasny, Artur Kamiński, Marta Krasny, Tomasz Czech, Andrzej Wojtowicz
Implant treatment is safe and predictable with sufficient amount and quality of bone tissue. In case of severely reduced bone tissue after a tooth was lost, augmentation of such tissue is necessary before implant embedment. Retrospective evaluation covered 380 alveolar ridge reconstructions. The study material consisted of human grafts prepared by the Department of Transplantology and Central Tissue Bank, Medical University of Warsaw. Presentation of laboratory procedures in the context of physical parameters of frozen, radiation sterilised, allogeneic corticocancellous material was presented...
May 20, 2017: Cell and Tissue Banking
https://www.readbyqxmd.com/read/28528333/effect-of-1-25-oh-2d3-on-proliferation-of-fibroblast-like-synoviocytes-and-expressions-of-pro-inflammatory-cytokines-through-regulating-microrna-22-in-a-rat-model-of-rheumatoid-arthritis
#13
Ping Fan, Lan He, Nan Hu, Jing Luo, Jing Zhang, Ling-Fei Mo, Yan-Hua Wang, Dan Pu, Xiao-Hong Lv, Zhi-Ming Hao, Chang-Hai Ding, Wu-Jun Xue, Yang Li
OBJECTIVE: This study aims to investigate the regulatory mechanism of 1,25-(OH)2D3 on the proliferation of fibroblast-like synoviocytes (FLS) and expressions of pro-inflammatory cytokines in rheumatoid arthritis (RA) rats via microRNA-22 (miR-22). METHODS: A rat model of RA was established with a subcutaneous injection of type II collagen. After treated with different concentrations of 1,25-(OH)2D3 the proliferation of FLS was estimated by the MTT method, and the optimal concentration of 1,25-(OH)2D3 was selected for further experiments...
May 12, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28528324/new-role-for-interleukin-13-receptor-%C3%AE-1-in-myocardial-homeostasis-and-heart-failure
#14
Uri Amit, David Kain, Allon Wagner, Avinash Sahu, Yael Nevo-Caspi, Nir Gonen, Natali Molotski, Tal Konfino, Natalie Landa, Nili Naftali-Shani, Galia Blum, Emmanuelle Merquiol, Danielle Karo-Atar, Yariv Kanfi, Gidi Paret, Ariel Munitz, Haim Y Cohen, Eytan Ruppin, Sridhar Hannenhalli, Jonathan Leor
BACKGROUND: The immune system plays a pivotal role in myocardial homeostasis and response to injury. Interleukins-4 and -13 are anti-inflammatory type-2 cytokines, signaling via the common interleukin-13 receptor α1 chain and the type-2 interleukin-4 receptor. The role of interleukin-13 receptor α1 in the heart is unknown. METHODS AND RESULTS: We analyzed myocardial samples from human donors (n=136) and patients with end-stage heart failure (n=177). We found that the interleukin-13 receptor α1 is present in the myocardium and, together with the complementary type-2 interleukin-4 receptor chain Il4ra, is significantly downregulated in the hearts of patients with heart failure...
May 20, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28528300/treating-metastatic-triple-negative-breast-cancer-with-cd44-neuropilin-dual-molecular-targets-of-multifunctional-nanoparticles
#15
De-Sheng Liang, Wen-Jie Zhang, Ai-Ting Wang, Hai-Tao Su, Hai-Jun Zhong, Xian-Rong Qi
Metastasis of cancer makes up the vast majority of cancer-related deaths, and it usually initiates from tumor cells invasiveness and develops through tumor neovasculature. In this work, we have fabricated a CD44/neuropilin dual receptor-targeting nanoparticulate system (tLyP-1-HT NPs) with endogenous or FDA approved components for treating metastatic triple negative breast cancer (TNBC). The enhanced specific targeting of tLyP-1-HT NPs to both metastatic tumor cells and metastasis-supporting tumor neovasculature was contributed by means of CD44/neuropilin dual receptor-mediated interaction...
May 13, 2017: Biomaterials
https://www.readbyqxmd.com/read/28528284/biomarkers-in-epilepsy-a-modelling-perspective
#16
Sven C van Dijkman, Rob A Voskuyl, Elizabeth C de Lange
Biomarkers can be categorised from type 0 (genotype or phenotype), through 6 (clinical scales), each level representing a part of the processes involved in the biological system and drug treatment. This classification facilitates the identification and connection of information required to fully (mathematically) model a disease and its treatment using integrated information from biomarkers. Two recent reviews thoroughly discussed the current status and development of biomarkers for epilepsy, but a path towards the integration of such biomarkers for the personalisation of anti-epileptic drug treatment is lacking...
May 17, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28528246/the-canadian-hypoglycemia-assessment-tool-program-insights-into-rates-and-implications-of-hypoglycemia-from-an-observational-study
#17
Ronnie Aronson, Ronald Goldenberg, Damir Boras, Rasmus Skovgaard, Harpreet Bajaj
OBJECTIVE: The true prevalence of hypoglycemia in insulin-treated patients with diabetes and its impact on patients, employers and healthcare providers is poorly appreciated owing to a paucity of real-world data. The global Hypoglycemia Assessment Tool (HAT) study addressed this issue, and here we report data from the Canadian cohort of patients. METHODS: This noninterventional, 6-month retrospective and 4-week prospective study enrolled patients aged ≥18 years receiving insulin treatment for >12 months from community endocrinology practices...
May 17, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28528225/predicting-type-2-diabetes-using-genetic-and-environmental-risk-factors-in-a-multi-ethnic-malaysian-cohort
#18
N Abdullah, N A Abdul Murad, E A Mohd Haniff, S E Syafruddin, J Attia, C Oldmeadow, M A Kamaruddin, N Abd Jalal, N Ismail, M Ishak, R Jamal, R J Scott, E G Holliday
OBJECTIVE: Malaysia has a high and rising prevalence of type 2 diabetes (T2D). While environmental (non-genetic) risk factors for the disease are well established, the role of genetic variations and gene-environment interactions remain understudied in this population. This study aimed to estimate the relative contributions of environmental and genetic risk factors to T2D in Malaysia and also to assess evidence for gene-environment interactions that may explain additional risk variation...
May 18, 2017: Public Health
https://www.readbyqxmd.com/read/28528205/heterotrimeric-complex-of-p38-mapk-pkc%C3%AE-and-tirap-is-required-for-ap1-mediated-inflammatory-response
#19
Mirza S Baig, Dongfang Liu, Kannan Muthu, Anjali Roy, Uzma Saqib, Adnan Naim, Syed M Faisal, Mansi Srivastava, Rohit Saluja
Inflammation could be described as a physiological response of the body to tissue injury, pathogen invasion, and irritants. During the inflammatory phase, cells of both the innate as well as adaptive immune system are activated and recruited to the site of inflammation. These mediators are downstream targets for the transcription factors; activator protein-1 (AP1), nuclear factor kappa-light-chain-enhancer (NF-κB), signal transducers and activators of transcription factors (STAT1), as well as interferon regulatory factors (IRFs), which control the expression of most immunomodulatory genes...
May 18, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28528135/presymptomatically-applied-ampa-receptor-antagonist-prevents-calcium-increase-in-vulnerable-type-of-motor-axon-terminals-of-mice-modeling-amyotrophic-lateral-sclerosis
#20
Roland Patai, Melinda Paizs, Massimo Tortarolo, Caterina Bendotti, Izabella Obál, József I Engelhardt, László Siklós
Increased intracellular calcium (Ca), which might be the consequence of an excess influx through Ca-permeable α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors, plays a crucial role in degeneration of motor neurons. Previously we demonstrated that the presymptomatic application of AMPA receptor antagonist, talampanel, could reduce Ca elevation in spinal motor neurons of mice carrying the G93A mutation of superoxide dismutase 1 (SOD1), modeling amyotrophic lateral sclerosis (ALS). It remained to be examined whether the remote, functionally semi-autonomous motor axon terminals could be rescued from the Ca overload, or if the terminals, where the degeneration possibly starts, already experience intractable changes at early time points...
May 17, 2017: Biochimica et Biophysica Acta
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