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https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#1
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28210779/locomotor-activity-and-discriminative-stimulus-effects-of-a-novel-series-of-synthetic-cathinone-analogs-in-mice-and-rats
#2
Michael B Gatch, Sean B Dolan, Michael J Forster
RATIONALE: Recent years have seen an increase in the recreational use of novel, synthetic psychoactive substances. There are little or no data on the abuse liability of many of the newer compounds. OBJECTIVES: The current study investigated the discriminative stimulus and locomotor effects of a series of synthetic analogs of cathinone: α-pyrrolidinopropiophenone (α-PPP), α-pyrrolidinohexiophenone (α-PHP), α-pyrrolidinopentiothiophenone (α-PVT), 3,4-methylenedioxybutiophenone (MDPBP), and ethylone...
February 16, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28210525/ransomware-minimizing-the-risks
#3
Justin Pope
This ongoing column is dedicated to providing information to our readers on managing legal risks associated with medical practice. We invite questions from our readers. The answers are provided by PRMS, Inc. (www.prms.com), a manager of medical professional liability insurance programs with services that include risk management consultation, education and onsite risk management audits, and other resources to healthcare providers to help improve patient outcomes and reduce professional liability risk. The answers published in this column represent those of only one risk management consulting company...
November 2016: Innovations in Clinical Neuroscience
https://www.readbyqxmd.com/read/28209338/the-pharmacist-role-in-the-development-and-implementation-of-a-naloxone-prescription-program-in-alabama
#4
Jordan L Wulz, Hanna Sung, B DeeAnn Dugan, Terri M Wensel, Roger Lander, Bryn Manzella
OBJECTIVE: The purpose of this report is to describe the development and implementation of a pharmacist-led naloxone-training and prescription service at a county health department. SETTING: Jefferson County Department of Health, Birmingham, Alabama. PRACTICE DESCRIPTION: This service was developed in response to the overwhelming heroin and opioid epidemic that is currently affecting the entire nation and which is highly prevalent in the state of Alabama...
February 10, 2017: Journal of the American Pharmacists Association: JAPhA
https://www.readbyqxmd.com/read/28202155/-the-liability-of-newness-revisited-theoretical-restatement-and-empirical-testing-in-emergent-organizations
#5
Tiantian Yang, Howard E Aldrich
The mismatch between Stinchcombe's original propositions regarding "the liability of newness" and subsequent attempts to test those propositions suggests to us that the form and causes of the liability remain open to further investigation. Taking organizational emergence as a process comprising entrepreneurs engaging in actions that produce outcomes, we propose hypotheses about the social mechanisms of organizational construction involved in investing resources, developing routines, and maintaining boundaries...
March 2017: Social Science Research
https://www.readbyqxmd.com/read/28199458/medical-liability-reform-in-a-new-political-environment
#6
Anand Parekh, G William Hoagland
No abstract text is available yet for this article.
February 15, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28196550/genetic-and-environmental-influences-on-last-year-major-depression-in-adulthood-a-highly-heritable-stable-liability-but-strong-environmental-effects-on-1-year-prevalence
#7
K S Kendler, C O Gardner
BACKGROUND: This study seeks to clarify the contribution of temporally stable and occasion-specific genetic and environmental influences on risk for major depression (MD). METHOD: Our sample was 2153 members of female-female twin pairs from the Virginia Twin Registry. We examined four personal interview waves conducted over an 8-year period with MD in the last year defined by DSM-IV criteria. We fitted a structural equation model to the data using classic Mx. The model included genetic and environmental risk factors for a latent, stable vulnerability to MD and for episodes in each of the four waves...
February 15, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28193668/towards-selective-mycobacterial-clpp1p2-inhibitors-with-reduced-activity-against-the-human-proteasome
#8
Wilfried Moreira, Sridhar Santhanakrishnan, Grace J Y Ngan, Choon Bing Low, Kanda Sangthongpitag, Anders Poulsen, Brian W Dymock, Thomas Dick
Mycobacterium tuberculosis (TB) is responsible for the greatest number of deaths worldwide due to a bacterial agent. We recently identified bortezomib (1) as a promising anti-TB compound. We showed that 1 inhibits the mycobacterial caseinolytic protease ClpP1P2 and exhibits bactericidal activity and established 1 and ClpP1P2 as an attractive lead/target couple. However, 1 is a human proteasome inhibitor currently approved for cancer therapy, and as such exhibits significant toxicity. Selective inhibition of the bacterial protease over the human proteasome is desirable in order to maintain antibacterial activity while reducing toxicity...
February 13, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28193663/results-from-a-patient-based-health-education-intervention-in-reducing-antibiotic-use-for-acute-upper-respiratory-tract-infections-in-the-private-sector-primary-care-setting-in-singapore
#9
Magdalene Hui Min Lee, Darius Shaw Teng Pan, Joyce Huixin Huang, Mark I-Cheng Chen, Joash Wen Chen Chong, Ee Hui Goh, Lili Jiang, Yee Sin Leo, Tau Hong Lee, Chia Siong Wong, Victor Weng Keong Loh, Fong Seng Lim, Adrian Zhongxian Poh, Tat Yean Tham, Wei Mon Wong, Yue Yu
We investigated the efficacy of patient-targeted education in reducing antibiotic prescriptions for upper respiratory tract infections (URTIs) amongst adults in the private primary care setting in Singapore. Our randomized controlled trial enrolled patients aged 21 years and above presenting at GP (general practitioner) clinics with URTI symptoms for 7 days or less. Intervention arm patients were verbally educated via pamphlets about the aetiology of URTIs, role of antibiotics in treating URTIs, and consequences of inappropriate antibiotic use...
February 13, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28192197/characterization-of-3-h-oxymorphone-binding-sites-in-mouse-brain-quantitative-autoradiography-in-opioid-receptor-knockout-mice
#10
Ji Hoon Yoo, Anna Borsodi, Géza Tóth, Sándor Benyhe, Robert Gaspar, Audrey Matifas, Brigitte L Kieffer, Athanasios Metaxas, Ian Kitchen, Alexis Bailey
Oxymorphone, one of oxycodone's metabolic products, is a potent opioid receptor agonist which is thought to contribute to the analgesic effect of its parent compound and may have high potential abuse liability. Nonetheless, the in vivo pharmacological binding profile of this drug is still unclear. This study uses mice lacking mu (MOP), kappa (KOP) or delta (DOP) opioid receptors as well as mice lacking all three opioid receptors to provide full characterisation of oxymorphone binding sites in the brain. Saturation binding studies using [(3)H]oxymorphone revealed high affinity binding sites in mouse brain displaying Kd of 1...
February 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28191515/medicolegal-implications-of-radial-and-femoral-access-for-coronary-angiography-and-intervention-in-2016-focus-on-retroperitoneal-hemorrhage
#11
Konstantinos V Voudris, Mladen I Vidovich
BACKGROUND AND OBJECTIVES: Retroperitoneal hemorrhage is a rare but serious complication of transfemoral approach (TFA) and TFA percutaneous coronary intervention (PCI). Radial approach for coronary angiography and intervention (transradial approach, TRA) is associated with lower access site complications and reduced blood transfusion rates. Retroperitoneal bleeding has not been described with TRA. This study sought to evaluate the relationship between femoral access for coronary angiography (TFA) and PCI-induced retroperitoneal hemorrhage and the resulting medical litigation in the United States...
April 1, 2016: Journal of Translational Internal Medicine
https://www.readbyqxmd.com/read/28190359/analysis-of-alkaloids-in-areca-nut-containing-products-by-liquid-chromatography-tandem-mass-spectrometry
#12
Vipin Jain, Apurva Garg, Mark Parascandola, Pankaj Chaturvedi, Samir S Khariwala, Irina Stepanov
Chewing of areca nut in different forms, such as betel quid or commercially-produced pan masala and gutkha, is common practice in the Indian subcontinent and many parts of Asia, and is associated with a variety of negative health outcomes, particularly oral and esophageal cancers. Areca nut-specific alkaloids arecoline, arecaidine, guvacoline, and guvacine have been implicated in both the abuse liability and the carcinogenicity of areca nut. Therefore, variations in the levels of areca alkaloids could potentially contribute to variations in addictive and carcinogenic potential across areca nut-containing products...
February 13, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28187287/understanding-the-intersections-between-metabolism-and-cancer-biology
#13
REVIEW
Matthew G Vander Heiden, Ralph J DeBerardinis
Transformed cells adapt metabolism to support tumor initiation and progression. Specific metabolic activities can participate directly in the process of transformation or support the biological processes that enable tumor growth. Exploiting cancer metabolism for clinical benefit requires defining the pathways that are limiting for cancer progression and understanding the context specificity of metabolic preferences and liabilities in malignant cells. Progress toward answering these questions is providing new insight into cancer biology and can guide the more effective targeting of metabolism to help patients...
February 9, 2017: Cell
https://www.readbyqxmd.com/read/28182259/artificial-intelligence-ai-systems-for-interpreting-complex-medical-data-sets
#14
Russ B Altman
Advances in machine intelligence have created powerful capabilities in algorithms that find hidden patterns in data, classify objects based on their measured characteristics, and associate similar patients/diseases/drugs based on common features. However, artificial intelligence applications in medical data have several technical challenges: complex and heterogeneous data sets, noisy medical data sets, and explaining their output to users. There are also social challenges related to intellectual property, data provenance, regulatory issues, economics and liability...
February 9, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28177281/copy-number-and-gene-dependency-analysis-reveals-partial-copy-loss-of-wild-type-sf3b1-as-a-novel-cancer-vulnerability
#15
Brenton R Paolella, William J Gibson, Laura M Urbanski, John A Alberta, Travis I Zack, Pratiti Bandopadhayay, Caitlin A Nichols, Pankaj K Agarwalla, Meredith S Brown, Rebecca Lamothe, Yong Yu, Peter S Choi, Esther A Obeng, Dirk Heckl, Guo Wei, Belinda Wang, Aviad Tsherniak, Francisca Vazquez, Barbara A Weir, David E Root, Glenn S Cowley, Sara J Buhrlage, Charles D Stiles, Benjamin L Ebert, William C Hahn, Robin Reed, Rameen Beroukhim
Genomic instability is a hallmark of human cancer, and results in widespread somatic copy number alterations. We used a genome-scale shRNA viability screen in human cancer cell lines to systematically identify genes that are essential in the context of particular copy-number alterations (copy-number associated gene dependencies). The most enriched class of copy-number associated gene dependencies was CYCLOPS (Copy-number alterations Yielding Cancer Liabilities Owing to Partial losS) genes, and spliceosome components were the most prevalent...
February 8, 2017: ELife
https://www.readbyqxmd.com/read/28170058/evaluating-nicotine-dependence-levels-in-e-cigarette-users
#16
Alba González Roz, Roberto Secades Villa, Sara Weidberg
Despite the fact that electronic cigarettes (e-cigarettes) are rapidly growing in popularity and use worldwide, there is scarce scientific data on abuse liability among e-cigarette users, and about whether e-cigarette use is related to nicotine dependence or not. The aim of this study is to explore nicotine dependence levels in a sample of experienced e-cigarette users (n= 39) and to compare them with current tobacco cigarette smokers (n=42). We conducted several face-to-face interviews in order to assess sociodemographic and dependence related characteristics in both e-cigarette users and in smokers...
January 11, 2017: Adicciones
https://www.readbyqxmd.com/read/28167510/preclinical-development-of-a-non-toxic-oral-formulation-of-monoethanolamine-a-lipid-precursor-for-prostate-cancer-treatment
#17
Roopali Saxena, Chunhua Yang, Mukkavilli Rao, Ravi Chakra C Turaga, Chakravarthy Garlapati, Sushma Reddy Gundala, Kimberly Myers, Ahmed Ghareeb, Shristi Bhattarai, Golnaz Kamilinia, Sangina Bristi, Dan Su, Giovanni Gadda, Padmashree Cg Rida, Guilherme Cantuaria, Ritu Aneja
PURPOSE: Most currently-available chemotherapeutic agents target rampant cell division in cancer cells, thereby affecting rapidly-dividing normal cells resulting in toxic side-effects. This non-specificity necessitates identification of novel cellular pathways that are reprogrammed selectively in cancer cells and can be exploited to develop pharmacologically superior and less-toxic therapeutics. Despite growing awareness on dysregulation of lipid metabolism in cancer cells, targeting lipid biosynthesis is still largely uncharted territory...
February 6, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28165734/phantom-pains-problems-with-the-utility-of-alerts-for-pan-assay-interference-compounds
#18
Stephen Joseph Capuzzi, Eugene N Muratov, Alexander Tropsha
The use of substructural alerts to identify Pan-Assay INterference compoundS (PAINS) has become a common component of the triage process in biological screening campaigns. These alerts, however, were originally derived from a proprietary library tested in just six assays measuring protein-protein interaction (PPI) inhibition using the AlphaScreen detection technology only; moreover, 68% (328 out of the 480 alerts) were derived from four or fewer compounds. In an effort to assess the reliability of these alerts as indicators of pan-assay interference, we performed a large-scale analysis of the impact of PAINS alerts on compound promiscuity in bioassays using publicly available data in PubChem...
February 6, 2017: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28163867/umbilical-cord-blood-androgen-levels-and-asd-related-phenotypes-at-12-and-36%C3%A2-months-in-an-enriched-risk-cohort-study
#19
Bo Y Park, Brian K Lee, Igor Burstyn, Loni P Tabb, Jeff A Keelan, Andrew J O Whitehouse, Lisa A Croen, Margaret D Fallin, Irva Hertz-Picciotto, Owen Montgomery, Craig J Newschaffer
BACKGROUND: Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1 in ASD is a well-recognized but poorly understood phenomenon. An explicit focus on potential etiologic pathways consistent with this sex difference, such as those involving prenatal androgen exposure, may help elucidate causes of ASD. Furthermore, the multi-threshold liability model suggests that the genetic mechanisms in females with ASD may be distinct and may modulate ASD risk in families with female ASD in the pedigree...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28162770/gene-essentiality-profiling-reveals-gene-networks-and-synthetic-lethal-interactions-with-oncogenic-ras
#20
Tim Wang, Haiyan Yu, Nicholas W Hughes, Bingxu Liu, Arek Kendirli, Klara Klein, Walter W Chen, Eric S Lander, David M Sabatini
The genetic dependencies of human cancers widely vary. Here, we catalog this heterogeneity and use it to identify functional gene interactions and genotype-dependent liabilities in cancer. By using genome-wide CRISPR-based screens, we generate a gene essentiality dataset across 14 human acute myeloid leukemia (AML) cell lines. Sets of genes with correlated patterns of essentiality across the lines reveal new gene relationships, the essential substrates of enzymes, and the molecular functions of uncharacterized proteins...
February 1, 2017: Cell
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