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https://www.readbyqxmd.com/read/28212566/genetic-characterization-of-polish-ccrcc-patients-somatic-mutation-analysis-of-pbrm1-bap1-and-kdmc5-genomic-snp-array-analysis-in-tumor-biopsy-and-preliminary-results-of-chromosome-aberrations-analysis-in-plasma-cell-free-dna
#1
Katarzyna Kluzek, Malgorzata I Srebniak, Weronika Majer, Agnieszka Ida, Tomasz Milecki, Kinga Huminska, Robert M van der Helm, Adrian Silesian, Tomasz M Wrzesinski, Jacek Wojciechowicz, Berna H Beverloo, Zbigniew Kwias, Hans A R Bluyssen, Joanna Wesoly
BACKGROUND: Mutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC. MATERIAL AND METHODS: We characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasma as a potential tool for non-invasive cytogenetic analysis was tested...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212557/using-high-sensitivity-sequencing-for-the-detection-of-mutations-in-btk-and-plc%C3%AE-2-genes-in-cellular-and-cell-free-dna-and-correlation-with-progression-in-patients-treated-with-btk-inhibitors
#2
Adam Albitar, Wanlong Ma, Ivan DeDios, Jeffrey Estella, Inhye Ahn, Mohammed Farooqui, Adrian Wiestner, Maher Albitar
Patients with chronic lymphocytic leukemia (CLL) that develop resistance to Bruton tyrosine kinase (BTK) inhibitors are typically positive for mutations in BTK or phospholipase c gamma 2 (PLCγ2). We developed a high sensitivity (HS) assay utilizing wild-type blocking polymerase chain reaction achieved via bridged and locked nucleic acids. We used this high sensitivity assay in combination with Sanger sequencing and next generation sequencing (NGS) and tested cellular DNA and cell-free DNA (cfDNA) from patients with CLL treated with the BTK inhibitor, ibrutinib...
February 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212555/construction-of-a-pathological-risk-model-of-occult-lymph-node-metastases-for-prognostication-by-semi-automated-image-analysis-of-tumor-budding-in-early-stage-oral-squamous-cell-carcinoma
#3
Nicklas Juel Pedersen, David Hebbelstrup Jensen, Giedrius Lelkaitis, Katalin Kiss, Birgitte Charabi, Lena Specht, Christian von Buchwald
It is challenging to identify at diagnosis those patients with early oral squamous cell carcinoma (OSCC), who have a poor prognosis and those that have a high risk of harboring occult lymph node metastases. The aim of this study was to develop a standardized and objective digital scoring method to evaluate the predictive value of tumor budding. We developed a semi-automated image-analysis algorithm, Digital Tumor Bud Count (DTBC), to evaluate tumor budding. The algorithm was tested in 222 consecutive patients with early-stage OSCC and major endpoints were overall (OS) and progression free survival (PFS)...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212436/antibody-deficiency-in-patients-with-frequent-exacerbations-of-chronic-obstructive-pulmonary-disease-copd
#4
Brian N McCullagh, Alejandro P Comellas, Zuhair K Ballas, John D Newell, M Bridget Zimmerman, Antoine E Azar
Chronic Obstructive Pulmonary Disease is the third leading cause of death in the US, and is associated with periodic exacerbations, which account for the largest proportion of health care utilization, and lead to significant morbidity, mortality, and worsening lung function. A subset of patients with COPD have frequent exacerbations, occurring 2 or more times per year. Despite many interventions to reduce COPD exacerbations, there is a significant lack of knowledge in regards to their mechanisms and predisposing factors...
2017: PloS One
https://www.readbyqxmd.com/read/28212426/sustainability-of-common-pool-resources
#5
Raja Rajendra Timilsina, Koji Kotani, Yoshio Kamijo
Sustainability has become a key issue in managing natural resources together with growing concerns for capitalism, environmental and resource problems. We hypothesize that the ongoing modernization of competitive societies, which we refer to as "capitalism," affects human nature for utilizing common pool resources, thus compromising sustainability. To test this hypothesis, we design and implement a set of dynamic common pool resource games and experiments in the following two types of Nepalese areas: (i) rural (non-capitalistic) and (ii) urban (capitalistic) areas...
2017: PloS One
https://www.readbyqxmd.com/read/28212312/genome-wide-prediction-of-dna-methylation-using-dna-composition-and-sequence-complexity-in-human
#6
Chengchao Wu, Shixin Yao, Xinghao Li, Chujia Chen, Xuehai Hu
DNA methylation plays a significant role in transcriptional regulation by repressing activity. Change of the DNA methylation level is an important factor affecting the expression of target genes and downstream phenotypes. Because current experimental technologies can only assay a small proportion of CpG sites in the human genome, it is urgent to develop reliable computational models for predicting genome-wide DNA methylation. Here, we proposed a novel algorithm that accurately extracted sequence complexity features (seven features) and developed a support-vector-machine-based prediction model with integration of the reported DNA composition features (trinucleotide frequency and GC content, 65 features) by utilizing the methylation profiles of embryonic stem cells in human...
February 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28212150/desensitization-strategies-in-the-patient-awaiting-heart-transplantation
#7
David H Chang, Jon A Kobashigawa
PURPOSE OF REVIEW: The aim of this review is to discuss the impact of antibody sensitization on heart transplant recipients. RECENT FINDINGS: We will discuss the current state of antibody identification, antibody strength and potential antibody pathogenicity. The prevalence of antibody sensitization has increased with increased utilization of mechanical circulatory support (MCS). Data on MCS-related antibody sensitization are reviewed. Important considerations to minimize the prozone effect in antibody testing will be discussed...
February 15, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28212119/the-role-of-biomarkers-in-undiagnosed-men
#8
Hasan Dani, Stacy Loeb
PURPOSE OF REVIEW: This article intends to review biomarkers derived from blood, urine, and tissue that can aid in the diagnosis of prostate cancer (PCa). RECENT FINDINGS: PCa screening requires tools that complement prostate-specific antigen (PSA) with a higher specificity for clinically significant disease. Novel blood biomarkers, such as the Prostate Health Index (phi) and 4Kscore, utilize isoforms of PSA to more accurately predict high-grade PCa than traditional tools such as PSA and the percentage free-to-total PSA...
February 16, 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28212097/design-and-testing-of-a-transcutaneous-rf-recharging-system-for-a-fetal-micropacemaker
#9
Adriana N Vest, Li Zhou, Xuechen Huang, Viktoria Norekyan, Yaniv Bar-Cohen, Ramen H Chmait, Gerald Eli Loeb
We have developed a rechargeable fetal micropacemaker in order to treat severe fetal bradycardia with comorbid hydrops fetalis. The necessarily small form factor of the device, small patient population, and fetal anatomy put unique constraints on the design of the recharging system. To overcome these constraints, a custom high power field generator was built and the recharging process was controlled by utilizing pacing rate as a measure of battery state, a feature of the relaxation oscillator used to generate stimuli...
February 13, 2017: IEEE Transactions on Biomedical Circuits and Systems
https://www.readbyqxmd.com/read/28212082/semantic-highlight-retrieval-and-term-prediction
#10
Min Sun, Kuo-Hao Zeng, Yenchen Lin, Farhadi Ali
Due to the unprecedented growth of unedited videos, finding highlights relevant to a text query in a set of unedited videos has become increasingly important. We refer this task as semantic highlight retrieval and propose a query-dependent video representation for retrieving a variety of highlights. Our method consists of two parts: (1) "viralets", a mid-level representation bridging between semantic (Fig. 1(a)) and visual (Fig. 1(c)) spaces; (2) a novel Semantic-MODulation (SMOD) procedure to make viralets query-dependent (referred to as SMOD viralets)...
February 13, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#11
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211938/establishment-and-validation-of-a-microfluidic-capillary-gel-electrophoresis-platform-method-for-purity-analysis-of-therapeutic-monoclonal-antibodies
#12
Michael T Smith, Shu Zhang, Troy Adams, Byron DiPaolo, Jennifer Dally
Capillary and microfluidic chip electrophoresis technologies are heavily utilized for development, characterization, release, and stability testing of biopharmaceuticals. Within the biopharmaceutical industry, CE-SDS and M-CGE are commonly used for purity determination by separation and quantitation of size-based variants. M-CGE is used primarily as a R&D tool for product and process development, while cGMP release and stability testing applications are commonly reserved for CE-SDS. This paper describes the establishment of a M-CGE platform method to be used for R&D and cGMP applications, including release and stability testing, for monoclonal antibodies...
February 17, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28211813/classification-of-depression-cognitive-disorders-and-co-morbid-depression-and-cognitive-disorders-with-perfusion-spect-neuroimaging
#13
Daniel G Amen, Pavitra Krishnamani, Somayeh Meysami, Andrew Newberg, Cyrus A Raji
BACKGROUND: Depression and cognitive disorders (CDs) are two common co-morbid afflictions that commonly present with overlapping symptoms. OBJECTIVE: To evaluate if perfusion neuroimaging with brain SPECT can distinguish persons with depression from those with CDs or both conditions. METHODS: Inclusion criteria were DSM-IV defined depression or CDs (Alzheimer's disease, vascular dementia, dementia not otherwise specified, and amnestic disorders not otherwise specified) including persons with both (total n = 4,541; 847 CDs, 3,269 depression, 425 with both)...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28211064/selecting-postoperative-adjuvant-systemic-therapy-for-early-stage-breast-cancer-a-critical-assessment-of-commercially-available-gene-expression-assays
#14
REVIEW
David M Hyams, Eric Schuur, Javier Angel Aristizabal, Juan Enrique Bargallo Rocha, Cesar Cabello, Roberto Elizalde, Laura García-Estévez, Henry L Gomez, Artur Katz, Aníbal Nuñez De Pierro
Risk stratification of patients with early stage breast cancer may support adjuvant chemotherapy decision-making. This review details the development and validation of six multi-gene classifiers, each of which claims to provide useful prognostic and possibly predictive information for early stage breast cancer patients. A careful assessment is presented of each test's analytical validity, clinical validity, and clinical utility, as well as the quality of evidence supporting its use.
February 17, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28210999/computational-cognitive-modeling-of-the-temporal-dynamics-of-fatigue-from-sleep-loss
#15
Matthew M Walsh, Glenn Gunzelmann, Hans P A Van Dongen
Computational models have become common tools in psychology. They provide quantitative instantiations of theories that seek to explain the functioning of the human mind. In this paper, we focus on identifying deep theoretical similarities between two very different models. Both models are concerned with how fatigue from sleep loss impacts cognitive processing. The first is based on the diffusion model and posits that fatigue decreases the drift rate of the diffusion process. The second is based on the Adaptive Control of Thought - Rational (ACT-R) cognitive architecture and posits that fatigue decreases the utility of candidate actions leading to microlapses in cognitive processing...
February 16, 2017: Psychonomic Bulletin & Review
https://www.readbyqxmd.com/read/28210781/adolescent-cocaine-exposure-enhances-goal-tracking-behavior-and-impairs-hippocampal-cell-genesis-selectively-in-adult-bred-low-responder-rats
#16
M Julia García-Fuster, Aram Parsegian, Stanley J Watson, Huda Akil, Shelly B Flagel
RATIONALE: Environmental challenges during adolescence, such as drug exposure, can cause enduring behavioral and molecular changes that contribute to life-long maladaptive behaviors, including addiction. Selectively bred high-responder (bHR) and low-responder (bLR) rats represent a unique model for assessing the long-term impact of adolescent environmental manipulations, as they inherently differ on a number of addiction-related traits. bHR rats are considered "addiction-prone," whereas bLR rats are "addiction-resilient," at least under baseline conditions...
February 16, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28210779/locomotor-activity-and-discriminative-stimulus-effects-of-a-novel-series-of-synthetic-cathinone-analogs-in-mice-and-rats
#17
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/28210634/potential-of-a-pharmacogenetic-guided-algorithm-to-predict-optimal-warfarin-dosing-in-a-high-risk-hispanic-patient-role-of-a-novel-nqo1-2-polymorphism
#18
Dagmar F Hernandez-Suarez, Karla Claudio-Campos, Javier E Mirabal-Arroyo, Bianca A Torres-Hernández, Angel López-Candales, Kyle Melin, Jorge Duconge
Deep abdominal vein thrombosis is extremely rare among thrombotic events secondary to the use of contraceptives. A case to illustrate the clinical utility of ethno-specific pharmacogenetic testing in warfarin management of a Hispanic patient is reported. A 37-year-old Hispanic Puerto Rican, non-gravid female with past medical history of abnormal uterine bleeding on hormonal contraceptive therapy was evaluated for abdominal pain. Physical exam was remarkable for unspecific diffuse abdominal tenderness, and general initial laboratory results-including coagulation parameters-were unremarkable...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210553/impact-of-value-based-breast-cancer-care-pathway-implementation-on-pre-operative-breast-magnetic-resonance-imaging-utilization
#19
Devina K S McCray, Stephen R Grobmyer, Holly J Pederson
BACKGROUND: Bilateral breast magnetic resonance imaging (MRI) is commonly used in the diagnostic workup of breast cancer (BC) to assess extent of disease and identify occult foci of disease. However, evidence for routine use of pre-operative MRI is lacking. Breast MRI is costly and can lead to unnecessary tests and treatment delays. Clinical care pathways (care paths) are value-based guidelines, which define management recommendations derived by expert consensus and available evidence based data...
February 2017: Gland Surgery
https://www.readbyqxmd.com/read/28210538/patient-and-primary-care-provider-attitudes-and-adherence-towards-lung-cancer-screening-at-an-academic-medical-center
#20
Duy K Duong, Salma Shariff-Marco, Iona Cheng, Harris Naemi, Lisa M Moy, Robert Haile, Baldeep Singh, Ann Leung, Ann Hsing, Viswam S Nair
Low dose CT (LDCT) for lung cancer screening is an evidence-based, guideline recommended, and Medicare approved test but uptake requires further study. We therefore conducted patient and provider surveys to elucidate factors associated with utilization. Patients referred for LDCT at an academic medical center were questioned about their attitudes, knowledge, and beliefs on lung cancer screening. Adherent patients were defined as those who met screening eligibility criteria and completed a LDCT. Referring primary care providers within this same medical system were surveyed in parallel about their practice patterns, attitudes, knowledge and beliefs about screening...
June 2017: Preventive Medicine Reports
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