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https://www.readbyqxmd.com/read/27901321/copy-number-variants-in-a-population-based-investigation-of-klippel-trenaunay-syndrome
#1
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from all live-births occurring in New York (1998-2010). Extracted DNA was genotyped using Illumina microarrays and CNVs were called using PennCNV software. CNVs selected for follow-up had ≥10 single nucleotide polymorphisms (SNPs) and minimal overlap with in-house controls or controls from the Database of Genomic Variants...
November 30, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27900800/effects-of-partial-sleep-deprivation-on-reaction-time-in-anesthesiologists
#2
Haleh Saadat, Bruno Bissonnette, Dmitry Tumin, Vidya Raman, Julie Rice, N'Diris Barry, Joseph Tobias
BACKGROUND: Fatigue in anesthesiologists may have implications that extend beyond individual well-being. AIM: The aim of the present study was to evaluate the impact of sleep deprivation on the reaction time in anesthesiologists either after an overnight call or regular working hours. Moderation of this effect by coping strategies was observed. METHODS: Psychomotor vigilance test was used to assess reaction time in 23 anesthesiologists at two time-points: (i) on a regular non-call day and (ii) after a 17-h in-house call...
November 30, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27888432/candidate-predisposing-germline-copy-number-variants-in-early-onset-colorectal-cancer-patients
#3
A J Brea-Fernandez, C Fernandez-Rozadilla, M Alvarez-Barona, D Azuara, M M Ginesta, J Clofent, L de Castro, D Gonzalez, M Andreu, X Bessa, X Llor, R Xicola, R Jover, A Castells, S Castellvi-Bel, G Capella, A Carracedo, C Ruiz-Ponte
PURPOSE: A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset. METHODS/PATIENTS: We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (<50 years) without identifiable germline mutations in Mendelian genes related to this phenotype...
November 25, 2016: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/27871902/the-effects-of-long-term-estradiol-treatment-on-social-behavior-and-gene-expression-in-adult-female-rats
#4
Alexandra N Garcia, Kelsey Bezner, Christina Depena, Weiling Yin, Andrea C Gore
This study tested the effects of long-term estradiol (E2) replacement on social behavior and gene expression in brain nuclei involved in the regulation of these social behaviors in adult female rats. We developed an ultrasonic vocalization (USV) test and a sociability test to examine communications, social interactions, and social preference, using young adult female cagemates. All rats were ovariectomized (OVX) and implanted with a Silastic capsule containing E2 or vehicle, and housed in same-treatment pairs for a 3-month period...
November 18, 2016: Hormones and Behavior
https://www.readbyqxmd.com/read/27866685/garrett-hardin-s-tragic-sense-of-life
#5
Jason Oakes
I discuss biologist Garrett Hardin's view of human nature, with examples from the background to his seminal 1968 essay "The Tragedy of the Commons" and his testimony before the US House of Representatives in the 1970s. Hardin saw the human species as being governed by deterministic laws of the same kind that controlled all other forms of life. Humans, as much as cattle and microbes, were in inevitable competition for space and resources. Equal parts Malthusian political economy and Cold War systems science, his view was the survival of the human race depended on obeying these iron laws...
November 17, 2016: Endeavour
https://www.readbyqxmd.com/read/27859449/cytocentrifuge-preparation-in-veterinary-cytology-a-quick-simple-and-affordable-manual-method-to-concentrate-low-cellularity-fluids
#6
Ricardo Marcos, Marta Santos, Carla Marrinhas, Carla Correia-Gomes, Mario Caniatti
BACKGROUND: Smears prepared by cytocentrifugation, the so-called cytospins, are widely used in human and veterinary cytology. However, the high cost has hampered the availability of commercial cytospin centrifuges in some veterinary clinics and laboratories. Nevertheless, cytospins are important for evaluating fluids with very low cellularity such as cerebrospinal fluid (CSF) or bronchoalveolar lavage fluid (BALF). OBJECTIVES: The aim of this study was to devise and test the use of a low-cost, in-house manual cytocentrifuge to obtain cytospin preparations...
November 9, 2016: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/27834245/incorporating-economic-policy-into-a-health-in-all-policies-agenda
#7
Elizabeth Rigby, Megan E Hatch
Recognizing the health effects of nonhealth policies, scholars and others seeking to improve Americans' health have advocated the implementation of a culture of health-which would call attention to and prioritize health as a key outcome of policy making across all levels of government and in the private sector. Adopting this "health-in-all-policies" lens, policy makers are paying increasing attention to health impacts as they debate policies in areas such as urban planning, housing, and transportation. Yet the health impacts of economic policies that shape the distribution of income and wealth are often overlooked...
November 1, 2016: Health Affairs
https://www.readbyqxmd.com/read/27828773/implementation-of-the-ymca-diabetes-prevention-program-throughout-an-integrated-health-system-a-translational-study
#8
Ron Adams, Christopher J Hebert, Linda Mcvey, Roger Williams
CONTEXT: HealthSpan Physicians (HSP), an integrated medical system in Northeast Ohio, partnered with the Young Men's Christian Association (YMCA) of Greater Cleveland to implement a referral system for the evidence-based Diabetes Prevention Program (DPP) throughout HSP. The YMCA of USA employs a cost-effective, customized version of the original DPP in which coaches take the place of in-house clinical staff. Efficacy of the YMCA DPP was shown earlier in the DEPLOY Study. OBJECTIVE: To improve outcomes of metrics used in the DEPLOY Study...
2016: Permanente Journal
https://www.readbyqxmd.com/read/27813156/low-high-coverage-and-two-stage-dna-sequencing-in-the-design-of-the-genetic-association-study
#9
Chao Xu, Kehao Wu, Ji-Gang Zhang, Hui Shen, Hong-Wen Deng
Next-generation sequencing-based genetic association study (GAS) is a powerful tool to identify candidate disease variants and genomic regions. Although low-coverage sequencing offers low cost but inadequacy in calling rare variants, high coverage is able to detect essentially every variant but at a high cost. Two-stage sequencing may be an economical way to conduct GAS without losing power. In two-stage sequencing, an affordable number of samples are sequenced at high coverage as the reference panel, then to impute in a larger sample is sequenced at low coverage...
November 4, 2016: Genetic Epidemiology
https://www.readbyqxmd.com/read/27809930/sleeping-habits-affect-access-to-host-by-chagas-disease-vector-triatoma-dimidiata
#10
Etienne Waleckx, Rafael Pasos-Alquicira, María Jesús Ramírez-Sierra, Eric Dumonteil
BACKGROUND: Chagas disease, caused by the parasite Trypanosoma cruzi, is mainly transmitted by blood-sucking bugs called triatomines. In the Yucatán Peninsula, Mexico, the main vector of T. cruzi is Triatoma dimidiata. While this species may colonize houses in other regions, it is mostly intrusive in Yucatán: it generally lives in sylvan and peridomestic areas, and frequently enters inside homes, likely attracted by potential vertebrate hosts, without establishing colonies. Bugs collected inside homes have a low nutritional status, suggesting that they cannot efficiently feed inside these houses...
November 3, 2016: Parasites & Vectors
https://www.readbyqxmd.com/read/27808408/the-california-linkages-program-doorway-to-housing-support-for-child-welfare-involved-parents
#11
Amy D'Andrade, James David Simon, Danna Fabella, Lolita Castillo, Cesar Mejia, David Shuster
Housing instability can complicate parents' efforts to provide for their children. Child welfare service agencies have had difficulty adequately serving parents' housing needs due to limited and constrained funding streams. This article integrates the voices of four important stakeholders to illuminate how an innovative model of service system coordination called Linkages addresses housing needs for child welfare-involved parents eligible for public assistance. Facilitated by Linkages, these parents can receive supportive housing services through programs affiliated with the California public assistance program CalWORKs...
November 3, 2016: American Journal of Community Psychology
https://www.readbyqxmd.com/read/27802839/the-prevalence-and-associated-factors-for-delayed-presentation-for-hiv-care-among-tuberculosis-hiv-co-infected-patients-in-southwest-ethiopia-a-retrospective-observational-cohort
#12
Hailay Gesesew, Birtukan Tsehaineh, Desalegn Massa, Amanuel Tesfay, Hafte Kahsay, Lillian Mwanri
BACKGROUND: A delay presentation for human immunodeficiency virus (HIV) patient's care (that is late engagement to HIV care due to delayed HIV testing or delayed linkage for HIV care after the diagnosis of HIV positive) is a critical step in the series of HIV patient care continuum. In Ethiopia, delayed presentation (DP) for HIV care among vulnerable groups such as tuberculosis (Tb) /HIV co-infected patients has not been assessed. We aimed to assess the prevalence of and factors associated with DP (CD4 < 200 cells/μl at first visit) among Tb/HIV co-infected patients in southwest Ethiopia...
November 2, 2016: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/27792774/under-expression-of-chemosensory-genes-in-domiciliary-bugs-of-the-chagas-disease-vector-triatoma-brasiliensis
#13
Axelle Marchant, Florence Mougel, Emmanuelle Jacquin-Joly, Jane Costa, Carlos Eduardo Almeida, Myriam Harry
BACKGROUND: In Latin America, the bloodsucking bugs Triatominae are vectors of Trypanosoma cruzi, the parasite that causes Chagas disease. Chemical elimination programs have been launched to control Chagas disease vectors. However, the disease persists because native vectors from sylvatic habitats are able to (re)colonize houses-a process called domiciliation. Triatoma brasiliensis is one example. Because the chemosensory system allows insects to interact with their environment and plays a key role in insect adaption, we conducted a descriptive and comparative study of the chemosensory transcriptome of T...
October 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27787493/outbreak-of-influenza-a-h3n2-variant-virus-infections-among-persons-attending-agricultural-fairs-housing-infected-swine-michigan-and-ohio-july-august-2016
#14
Rebekah S Schicker, John Rossow, Seth Eckel, Nicolas Fisher, Sally Bidol, Lilith Tatham, Janice Matthews-Greer, Kevin Sohner, Andrew S Bowman, James Avrill, Tony Forshey, Lenee Blanton, C Todd Davis, John Schiltz, Susan Skorupski, LaShondra Berman, Yunho Jang, Joseph S Bresee, Stephen Lindstrom, Susan C Trock, David Wentworth, Alicia M Fry, Sietske de Fijter, Kimberly Signs, Mary DiOrio, Sonja J Olsen, Matthew Biggerstaff
On August 3, 2016, the Ohio Department of Health Laboratory reported to CDC that a respiratory specimen collected on July 28 from a male aged 13 years who attended an agricultural fair in Ohio during July 22-29, 2016, and subsequently developed a respiratory illness, tested positive by real-time reverse transcription-polymerase chain reaction (rRT-PCR) for influenza A(H3N2) variant* (H3N2v). The respiratory specimen was collected as part of routine influenza surveillance activities. The next day, CDC was notified of a child aged 9 years who was a swine exhibitor at an agricultural fair in Michigan who became ill on July 29, 2016, and tested positive for H3N2v virus at the Michigan Department of Health and Human Services Laboratory...
October 28, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27749147/deletion-of-the-sacpd-c-locus-alters-the-symbiotic-relationship-between-bradyrhizobium-japonicum-usda110-and-soybean-resulting-in-elicitation-of-plant-defense-response-and-nodulation-defects
#15
Hari Bhupathi Krishnan, Alaa Alaswad, Nathan Wayne Oehrle, Jason Gillman
Legumes form symbiotic association with soil-dwelling bacteria collectively called rhizobia. This association results in the formation of nodules, unique plant-derived organs, within which the rhizobia are housed. Rhizobia encoded-nitrogenase facilitates the conversation of atmospheric nitrogen into ammonia, which is utilized by the plants for its growth and development. Fatty acids have been shown to play an important role in root nodule symbiosis. In this study, we have investigated the role of Stearoyl-Acyl Carrier Protein Desaturase- isoform C (SACPD-C), a soybean enzyme that catalyzes the conversion of stearic acid into oleic acid, which is expressed in developing seeds and in nitrogen fixing nodules...
October 17, 2016: Molecular Plant-microbe Interactions: MPMI
https://www.readbyqxmd.com/read/27747295/influence-of-plasmid-type-on-the-replication-of-rhodococcus-equi-in-host-macrophages
#16
Jennifer M Willingham-Lane, Londa J Berghaus, Steeve Giguère, Mary K Hondalus
The soil-dwelling, saprophytic actinomycete Rhodococcus equi is a multihost, facultative intracellular pathogen of macrophages. When inhaled by susceptible foals, it causes severe bronchopneumonia. It is also a pathogen of pigs, which may develop submaxillary lymphadenitis upon exposure. R. equi isolates obtained from foals and pigs possess conjugative plasmids housing a pathogenicity island (PAI) containing a novel family of genes of unknown function called the virulence-associated protein or vap family. The PAI regions of the equine and swine plasmids differ in vap gene composition, with equine isolates possessing six vap genes, including the major virulence determinant vapA, while the PAIs of swine isolates house vapB and five other unique vap genes...
September 2016: MSphere
https://www.readbyqxmd.com/read/27686714/the-reliability-and-validity-of-a-clinical-3d-freehand-ultrasound-system
#17
Francesco Cenni, Davide Monari, Kaat Desloovere, Erwin Aertbeliën, Simon-Henri Schless, Herman Bruyninckx
BACKGROUND AND OBJECTIVE: Acquiring large anatomical volumes in a feasible manner is useful for clinical decision-making. A relatively new technique called 3D freehand ultrasonography is capable of this by combining a conventional 2D ultrasonography system. Currently, a thorough analysis of this technique is lacking, as the analyses are dependent on the software implementation details and the choice of measurement systems. Therefore this study starts by making this implementation available under the form of an open-source software library to perform 3D freehand ultrasonography...
November 2016: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/27670852/next-generation-sequencing-of-pooled-samples-guideline-for-variants-filtering
#18
Santosh Anand, Eleonora Mangano, Nadia Barizzone, Roberta Bordoni, Melissa Sorosina, Ferdinando Clarelli, Lucia Corrado, Filippo Martinelli Boneschi, Sandra D'Alfonso, Gianluca De Bellis
Sequencing large number of individuals, which is often needed for population genetics studies, is still economically challenging despite falling costs of Next Generation Sequencing (NGS). Pool-seq is an alternative cost- and time-effective option in which DNA from several individuals is pooled for sequencing. However, pooling of DNA creates new problems and challenges for accurate variant call and allele frequency (AF) estimation. In particular, sequencing errors confound with the alleles present at low frequency in the pools possibly giving rise to false positive variants...
September 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27650777/computer-aided-drug-design-at-boehringer-ingelheim
#19
Ingo Muegge, Andreas Bergner, Jan M Kriegl
Computer-Aided Drug Design (CADD) is an integral part of the drug discovery endeavor at Boehringer Ingelheim (BI). CADD contributes to the evaluation of new therapeutic concepts, identifies small molecule starting points for drug discovery, and develops strategies for optimizing hit and lead compounds. The CADD scientists at BI benefit from the global use and development of both software platforms and computational services. A number of computational techniques developed in-house have significantly changed the way early drug discovery is carried out at BI...
September 20, 2016: Journal of Computer-aided Molecular Design
https://www.readbyqxmd.com/read/27650639/how-voting-and-consensus-created-the-diagnostic-and-statistical-manual-of-mental-disorders-dsm-iii
#20
James Davies
This paper examines how Task Force votes were central to the development of Diagnostic and Statistical Manual of Mental Disorders (DSM-III and DSM-III-R). Data were obtained through a literature review, investigation of DSM archival material housed at the American Psychiatric Association (APA), and interviews with key Task Force members of DSM-III and DSM-III-R. Such data indicate that Task Force votes played a central role in the making of DSM-III, from establishing diagnostic criteria and diagnostic definitions to settling questions about the inclusion or removal of diagnostic categories...
September 21, 2016: Anthropology & Medicine
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