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https://www.readbyqxmd.com/read/29345978/research-in-rare-disease-from-genomics-to-proteomics
#1
Jessica Lacoste
Jessica Lacoste from the Donnelly Centre at the University of Toronto was awarded best poster at the annual Society of Biomolecular Imaging and Informatics meeting held in San Diego, September 2017. Her work focuses on characterizing the protein localization of variants involved in rare disease. The current works and future directions of research in rare disease are summarized in the following overview.
January 2018: Assay and Drug Development Technologies
https://www.readbyqxmd.com/read/29339270/proceedings-from-the-fourth-haploidentical-stem-cell-transplantation-symposium-haplo2016-san-diego-california-december-1-2016
#2
REVIEW
Monzr Al Malki, Richard Jones, Qing Ma, Dean Lee, Yair Reisner, Jeffrey S Miller, Peter Lang, Suradej Hongeng, Parameswaran Hari, Samuel Strober, Jianhua Yu, Richard Maziarz, Domenico Mavilio, Denis-Claude Roy, Chiara Bonini, Richard E Champlin, Ephraim J Fuchs, Stefan O Ciurea
The resurgence of haploidentical stem cell transplantation (HaploSCT) over the last decade is one of the most important advances in the field of hematopoietic stem cell transplantation (HSCT). The modified platforms of T cell depletion either ex vivo (CD34+ selection, 'mega-dose' of purified CD34+ cells, or selective depletion of T-cells) or newer platforms of in vivo depletion of T cells, with either post-transplant high-dose cyclophosphamide (PTCy) or intensified immune suppression, have contributed to better outcomes, with survival that is similar to HLA-match donor transplantation...
January 12, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29331703/the-effects-of-vortioxetine-on-cognitive-performance-in-working-patients-with-major-depressive-disorder-a-short-term-randomized-double-blind-exploratory-study
#3
Bernhard T Baune, Lasse B Sluth, Christina K Olsen
BACKGROUND: Major Depressive Disorder (MDD) is a complex disease characterized by emotional, physical and cognitive symptoms. We explored the efficacy of vortioxetine versus placebo on outcomes of cognition, functioning and mood symptoms in working patients with depression, using paroxetine as an active reference. METHODS: Gainfully employed patients (18-65 years, N = 152) with MDD were randomized 1:1:1 to 8 weeks' double-blind, parallel treatment either with vortioxetine (10mg/day) or paroxetine (20mg/day), or with placebo...
December 28, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29310721/the-utility-of-dna-extracted-from-saliva-for-genome-wide-molecular-research-platforms
#4
Fiona J Bruinsma, Jihoon E Joo, Ee Ming Wong, Graham G Giles, Melissa C Southey
OBJECTIVE: The study aimed to investigate the suitability of DNA extracted from saliva for high throughput molecular genotyping and DNA methylation platforms by comparing its performance with that of DNA extracted from blood. The genome-wide methylation profile, using the Infinium HumanMethylation450 Beadchip array® (Illumina, San Diego, CA), was measured for 20 DNA samples. Common genetic variation was measured, using the Infinium HumanCore Beadchip® (Illumina, San Diego, CA) for 4 samples (matching samples from 2 people)...
January 8, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29306937/the-effects-of-stress-and-meditation-on-the-immune-system-human-microbiota-and-epigenetics
#5
Ayman Mukerji Househam, Christine Tara Peterson, Paul J Mills, Deepak Chopra
Context • Globally, more than 25% of individuals are affected by anxiety and depression disorders. Meditation is gaining popularity in clinical settings and its treatment efficacy is being studied for a wide array of psychological and physiological ailments. An exploration of stress physiology is an essential precursor to delineation of the mechanisms underlying the beneficial effects of meditation practices. Objective • The review outlines a model of interconnected physiological processes that might support the continued inclusion and expansion of meditation in the treatment of diverse medical conditions and to investigate the role that gut microbiota may play in realizing well-being through meditation...
October 2017: Advances in Mind-body Medicine
https://www.readbyqxmd.com/read/29306537/metformin-enhances-the-differentiation-of-dental-pulp-cells-into-odontoblasts-by-activating-ampk-signaling
#6
Wei Qin, Xianling Gao, Tao Ma, Michael D Weir, Jing Zou, Bing Song, Zhengmei Lin, Abraham Schneider, Hockin H K Xu
INTRODUCTION: Metformin is a first-line drug for treating type 2 diabetes that regulates the differentiation of mesenchymal stem cells. Its effects on human dental pulp cells (DPCs) remain unknown. This study aimed to investigate the effects of metformin on the proliferation and differentiation of DPCs. METHODS: A live/dead viability assay kit was used to examine the effects of metformin on the cell viability of DPCs. Cell proliferation was analyzed using a cell counting kit (CCK-8; Dojindo, Tokyo, Japan)...
January 3, 2018: Journal of Endodontics
https://www.readbyqxmd.com/read/29305069/randomized-trial-to-reduce-air-particle-levels-in-homes-of-smokers-and-children
#7
Suzanne C Hughes, John Bellettiere, Benjamin Nguyen, Sandy Liles, Neil E Klepeis, Penelope J E Quintana, Vincent Berardi, Saori Obayashi, Savannah Bradley, C Richard Hofstetter, Melbourne F Hovell
INTRODUCTION: Exposure to fine particulate matter in the home from sources such as smoking, cooking, and cleaning may put residents, especially children, at risk for detrimental health effects. A randomized clinical trial was conducted from 2011 to 2016 to determine whether real-time feedback in the home plus brief coaching of parents or guardians could reduce fine particle levels in homes with smokers and children. DESIGN: A randomized trial with two groups-intervention and control...
January 2, 2018: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29297817/seasonal-dermatopathy-and-concurrent-reproductive-findings-in-captive-fossa-cryptoprocta-ferox
#8
Cameron Ratliff, Meg Sutherland-Smith
Six female intact fossa ( Cryptoprocta ferox) in the San Diego Zoo collection presented with episodic, seasonal alopecia and variable pruritus between the years 1984 and 2015. Presentation was often accompanied by findings such as prominent palpable uterus or cervix and thickened, enlarged uterus on ultrasound. Dermatologic testing has been consistently nondiagnostic for primary cause of alopecia. Both the alopecia and reproductive findings have a higher occurrence from midspring to midsummer. Hormonal changes associated with reproductive activity are proposed as a possible explanation for the dermal clinical signs seen in these six fossas...
December 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/29294857/structural-pathways-between-race-ethnicity-substance-use-military-service-and-male-perpetrated-intimate-partner-violence-in-pre-9-11-military-families
#9
Roberto Cancio
Along with service members, military families bear the brute consequences of global U.S. military intervention. Various studies have concluded that these deployments put military families at high risk for intimate partner violence (IPV). Using structural equation modeling (SEM) as a novel approach to examine IPV among pre-9/11 military families, this study considers variations of self-reported IPV from the point of the abused partner to test the impact of several life events and demographic factors on the type of IPV most prevalent among perpetrators...
August 1, 2017: Journal of Interpersonal Violence
https://www.readbyqxmd.com/read/29291173/phosphorylated-neurofilament-heavy-a-potential-blood-biomarker-to-evaluate-the-severity-of-acute-spinal-cord-injuries-in-adults
#10
Ajai Singh, Vineet Kumar, Sabir Ali, Abbas Ali Mahdi, Rajeshwer Nath Srivastava
Aims: The aim of this study is to analyze the serial estimation of phosphorylated neurofilament heavy (pNF-H) in blood plasma that would act as a potential biomarker for early prediction of the neurological severity of acute spinal cord injuries (SCI) in adults. Settings and Design: Pilot study/observational study. Subjects and Methods: A total of 40 patients (28 cases and 12 controls) of spine injury were included in this study. In the enrolled cases, plasma level of pNF-H was evaluated in blood samples and neurological evaluation was performed by the American Spinal Injury Association Injury Scale at specified period...
October 2017: International Journal of Critical Illness and Injury Science
https://www.readbyqxmd.com/read/29290434/genome-wide-association-study-of-conformation-and-milk-yield-in-mixed-breed-dairy-goats
#11
Sebastian Mucha, Raphael Mrode, Mike Coffey, Mehmet Kizilaslan, Suzanne Desire, Joanne Conington
Identification of genetic markers that affect economically important traits is of high value from a biological point of view, enabling the targeting of candidate genes and providing practical benefits for the industry such as wide-scale genomic selection. This study is one of the first to investigate the genetic background of economically important traits in dairy goats using the caprine 50K single nucleotide polymorphism (SNP) chip. The aim of the project was to perform a genome-wide association study for milk yield and conformation of udder, teat, and feet and legs...
December 28, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29286553/the-relationship-between-anxious-temperament-and-harm-avoidance-in-medical-students-and-staffs
#12
Masanao Shirahama, Takeshi Terao, Nobuyoshi Ishii, Koji Hatano, Hirofumi Hirakawa, Kentaro Kohno
AIMS: In order to resolve the equivocal relationship between anxious temperament rated by the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Auto-questionnaire (TEMPS-A) and harm avoidance rated by the Temperament and Character Inventory (TCI), the present study aims to investigate whether the anxious temperament scale and the harm avoidance scale are significantly associated with adjustment of relevant factors. Our hypothesis is that anxious temperament may be associated with harm avoidance...
December 29, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/29284295/perceptions-of-cancer-risk-efficacy-and-cancer-related-risk-behaviors-results-from-the-hchs-sol-sociocultural-ancillary-study
#13
Rina S Fox, Sarah D Mills, Scott C Roesch, Daniela Sotres-Alvarez, Patricia Gonzalez, Venera Bekteshi, Jianwen Cai, David W Lounsbury, Gregory A Talavera, Frank J Penedo, Vanessa L Malcarne
This study evaluated the associations among perceived risk, perceived efficacy, and engagement in six cancer-related risk behaviors in a population-based Hispanic/Latino sample. Interviews were conducted with 5,313 Hispanic/Latino adults as part of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) Sociocultural Ancillary Study. Participants were recruited from the study's four field centers (Bronx, NY; Chicago, IL; Miami, FL; San Diego, CA) between February 2010 and June 2011. Perceived risk and perceived efficacy were assessed with questions drawn from the Health Interview National Trends Survey...
December 1, 2017: Health Education & Behavior: the Official Publication of the Society for Public Health Education
https://www.readbyqxmd.com/read/29274975/association-analysis-for-udder-index-and-milking-speed-with-imputed-whole-genome-sequence-variants-in-nordic-holstein-cattle
#14
Júlia Gazzoni Jardim, Bernt Guldbrandtsen, Mogens Sandø Lund, Goutam Sahana
Genome-wide association testing facilitates the identification of genetic variants associated with complex traits. Mapping genes that promote genetic resistance to mastitis could reduce the cost of antibiotic use and enhance animal welfare and milk production by improving outcomes of breeding for udder health. Using imputed whole-genome sequence variants, we carried out association studies for 2 traits related to udder health, udder index, and milking speed in Nordic Holstein cattle. A total of 4,921 bulls genotyped with the BovineSNP50 BeadChip array were imputed to high-density genotypes (Illumina BovineHD BeadChip, Illumina, San Diego, CA) and, subsequently, to whole-genome sequence variants...
December 20, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29274960/bacterial-diversity-and-composition-of-alfalfa-silage-as-analyzed-by-illumina-miseq-sequencing-effects-of-escherichia-coli-o157-h7-and-silage-additives
#15
I M Ogunade, Y Jiang, A A Pech Cervantes, D H Kim, A S Oliveira, D Vyas, Z G Weinberg, K C Jeong, A T Adesogan
The first objective of this study was to examine effects of adding Escherichia coli O157:H7 with or without chemical or microbial additives on the bacterial diversity and composition of alfalfa silage. The second objective was to examine associations between the relative abundance of known and unknown bacterial species and indices of silage fermentation quality. Alfalfa forage was harvested at 54% dry matter, chopped to a theoretical length of cut of 19 mm, and ensiled in quadruplicate in laboratory silos for 100 d after the following treatments were applied: (1) distilled water (control); (2) 1 × 105 cfu/g of E...
December 20, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29262291/diagnosis-of-chlamydia-trachomatis-neisseria-gonorrhoeae-trichomonas-vaginalis-and-mycoplasma-genitalium-an-observational-study-of-testing-patterns-prevalence-and-co-infection-rates-in-northern-new-zealand
#16
Arlo Upton, Liselle Bissessor, Peter Lowe, Xiaoying Wang, Gary McAuliffe
Background: This study sought to determine community prevalence, epidemiology and testing patterns for sexually transmissible infections (STI) in northern New Zealand. Methods: A total of 2643 samples submitted for STI testing between 26 November 2015 and 7 December 2015 underwent analysis by Aptima Combo 2 (Hologic, San Diego, CA, USA), Trichomonas vaginalis (TV), and Mycoplasma genitalium (MG) assays. Results were analysed by patient demographics. Results: Four hundred and eleven pathogens were detected from 359 patients, with Chlamydia trachomatis (CT), Neisseria gonorrhoeae (NG), TV, and MG detected in 178 (6...
December 21, 2017: Sexual Health
https://www.readbyqxmd.com/read/29260117/parallel-ocular-and-serologic-course-in-a-patient-with-early-sjogren-s-syndrome-markers
#17
Lam Phung, Ivonne V Lollett, Raquel Goldhardt, Janet L Davis, Larry Young, Dana Ascherman, Anat Galor
Purpose: To report on a case of a young female with progressing dry eye symptoms and evolving autoimmune markers consistent with a presentation of early Sjogren's syndrome (SS). Observations: A 32 year-old female presented with chronic dry eye symptoms refractory to artificial tears. Slit lamp examination revealed punctate epithelial erosions, decreased tear break-up time, and decreased tear lake bilaterally. Initial tests for ocular surface inflammation (InflammaDry, Quidel, San Diego) and systemic autoantibodies (antinuclear antibodies, anti-SSA/Ro and anti-SSB/La) were negative...
December 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29258716/freestyle-libre-and-dexcom-g4-platinum-sensors-accuracy-comparisons-during-two-weeks-of-home-use-and-use-during-experimentally-induced-glucose-excursions
#18
F Boscari, S Galasso, A Facchinetti, M C Marescotti, V Vallone, A M L Amato, A Avogaro, D Bruttomesso
BACKGROUND AND AIMS: This study compared the accuracy of the FreeStyle Libre (Abbott, Alameda, CA) and Dexcom G4 Platinum (DG4P, Dexcom, San Diego, CA) CGM sensors. METHODS AND RESULTS: Twenty-two adults with type 1 diabetes wore the two sensors simultaneously for 2 weeks. Libre was used according to manufacturer-specified lifetime (MSL); DG4P was used 7 days beyond MSL. At a clinical research center (CRC), subjects were randomized to receive the same breakfast with standard insulin bolus (standard) or a delayed and increased (delayed & increased) bolus to induce large glucose swings during weeks 1 and 2; venous glucose was checked every 5-15 min for 6 h...
November 11, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29258214/extraction-and-analysis-of-respiratory-motion-using-wearable-inertial-sensor-system-during-trunk-motion
#19
Apoorva Gaidhani, Kee S Moon, Yusuf Ozturk, Sung Q Lee, Woosub Youm
Respiratory activity is an essential vital sign of life that can indicate changes in typical breathing patterns and irregular body functions such as asthma and panic attacks. Many times, there is a need to monitor breathing activity while performing day-to-day functions such as standing, bending, trunk stretching or during yoga exercises. A single IMU (inertial measurement unit) can be used in measuring respiratory motion; however, breathing motion data may be influenced by a body trunk movement that occurs while recording respiratory activity...
December 17, 2017: Sensors
https://www.readbyqxmd.com/read/29237429/using-theory-based-messages-to-motivate-u-s-pregnant-women-to-prevent-cytomegalovirus-infection-results-from-formative-research
#20
Denise M Levis, Christina L Hillard, Simani M Price, Erika Reed-Gross, Erika Bonilla, Minal Amin, Jennifer D Stowell, Rebekah Clark, Delaney Johnson, Karen Mask, Cynthia Carpentieri, Michael J Cannon
BACKGROUND: An estimated 1 in 150 infants is born each year with congenital cytomegalovirus (CMV); nearly 1 in 750 suffers permanent disabilities. Congenital CMV is the result of a pregnant woman becoming infected with CMV. Educating pregnant women about CMV is currently the best approach to prevention. Limited research is available on how to effectively communicate with women about CMV. We conducted formative research on fear appeals theory-based messages about CMV and prevention with U...
December 14, 2017: BMC Women's Health
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