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https://www.readbyqxmd.com/read/28319654/an-alpha-synuclein-mrm-assay-with-diagnostic-potential-for-parkinson-s-disease-and-monitoring-disease-progression
#1
Li Yang, Tessandra Stewart, Min Shi, Gwenael Pottiez, Romel Dator, Rui Wu, Patrick Aro, Robert J Schuster, Carmen Ginghina, Catherine Pan, Yuqian Gao, Weijun Qian, Cyrus P Zabetian, Shu-Ching Hu, Joseph F Quinn, Jing Zhang
AIM: The alpha-synuclein (α-syn) level in human cerebrospinal fluid (CSF), as measured by immunoassays, is promising as a Parkinson's disease (PD) biomarker. However, the levels of total α-syn are inconsistent among studies with large cohorts and different measurement platforms. Total α-syn level also does not correlate with disease severity or progression. Here, we developed a highly sensitive Multiple Reaction Monitoring (MRM) method to measure absolute CSF α-syn peptide concentrations without prior enrichment or fractionation, aiming to discover new candidate biomarkers...
March 20, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28319273/gastric-microbiota-features-associated-with-cancer-risk-factors-and-clinical-outcomes-a-pilot-study-in-gastric-cardia-cancer-patients-from-shanxi-china
#2
Guoqin Yu, Nan Hu, Lemin Wang, Chaoyu Wang, Xiao-You Han, Mike Humphry, Jacques Ravel, Christian C Abnet, Philip R Taylor, Alisa M Goldstein
Little is known about the link between gastric microbiota and the epidemiology of gastric cancer. In order to determine the epidemiologic and clinical relevance of gastric microbiota, we used 16S ribosomal RNA gene sequencing analysis to characterize the composition and structure of the gastric microbial community of 80 paired samples (non-malignant and matched tumor tissues) from gastric cardia adenocarcinoma (GCA) patients in Shanxi, China. We also used PICRUSt to predict microbial functional profiles. Compared to patients without family history of upper gastrointestinal (UGI) cancer in the non-malignant gastric tissue microbiota, patients with family history of UGI cancer had higher Helicobacter pylori (Hp) relative abundance (median: 0...
March 20, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28319210/oculo-dento-digital-dysplasia-oddd-due-to-a-gja1-mutation-report-of-a-case-with-emphasis-on-dental-manifestations
#3
Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George A Tanteles, Maria A Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1...
March 20, 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28319090/a-single-copy-sleeping-beauty-transposon-mutagenesis-screen-identifies-new-pten-cooperating-tumor-suppressor-genes
#4
Jorge de la Rosa, Julia Weber, Mathias Josef Friedrich, Yilong Li, Lena Rad, Hannes Ponstingl, Qi Liang, Sandra Bernaldo de Quirós, Imran Noorani, Emmanouil Metzakopian, Alexander Strong, Meng Amy Li, Aurora Astudillo, María Teresa Fernández-García, María Soledad Fernández-García, Gary J Hoffman, Rocío Fuente, George S Vassiliou, Roland Rad, Carlos López-Otín, Allan Bradley, Juan Cadiñanos
The overwhelming number of genetic alterations identified through cancer genome sequencing requires complementary approaches to interpret their significance and interactions. Here we developed a novel whole-body insertional mutagenesis screen in mice, which was designed for the discovery of Pten-cooperating tumor suppressors. Toward this aim, we coupled mobilization of a single-copy inactivating Sleeping Beauty transposon to Pten disruption within the same genome. The analysis of 278 transposition-induced prostate, breast and skin tumors detected tissue-specific and shared data sets of known and candidate genes involved in cancer...
March 20, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28318817/clinical-and-mutational-characteristics-of-duchenne-muscular-dystrophy-patients-based-on-a-comprehensive-database-in-south-china
#5
Dan-Ni Wang, Zhi-Qiang Wang, Lei Yan, Jin He, Min-Ting Lin, Wan-Jin Chen, Ning Wang
The development of clinical trials for Duchenne muscular dystrophy (DMD) in China faces many challenges due to limited information about epidemiological data, natural history and clinical management. To provide these detailed data, we developed a comprehensive database based on registered DMD patients from South China and analysed their clinical and mutational characteristics. The database included DMD registrants confirmed by clinical presentation, family history, genetic detection, prognostic outcome, and/or muscle biopsy...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28318778/stenotrophomonas-maltophilia-healthcare-associated-infections-identification-of-two-main-pathogenic-genetic-backgrounds
#6
C Corlouer, B Lamy, M Desroches, J Ramos-Vivas, E Mehiri-Zghal, O Lemenand, J-M Delarbre, J-W Decousser
BACKGROUND: Stenotrophomonas maltophilia is an opportunistic multi-drug-resistant bacterium responsible for healthcare-associated infections. Strategies for in-hospital infection control and management of carriers and environmental reservoirs remain controversial. AIM: To determine the population structure of S. maltophilia strains in hospitalized infected patients and to identify putative highly pathogenic subpopulations that require upgraded infection control measures...
February 9, 2017: Journal of Hospital Infection
https://www.readbyqxmd.com/read/28318595/chchd10-mutations-in-patients-with-amyotrophic-lateral-sclerosis-in-mainland-china
#7
Shen Shen, Ji He, Lu Tang, Nan Zhang, Dongsheng Fan
Many genes have been found to be pathogenic for amyotrophic lateral sclerosis (ALS). Among them, the coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) has been reported to play a controversial role in ALS. We examined the coding region of this gene in 424 unrelated Chinese sporadic ALS subjects, 73 familial ALS subjects, and 204 healthy controls using a polymerase chain reaction-direct sequencing strategy. Two types of variants were identified, and of these, one variant (g.877C>T, p.P23L) was identified to be damaging, and the other one was (g...
February 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28318563/characterization-of-enterococcus-species-isolated-from-marine-recreational-waters-by-maldi-tof-ms-and-rapid-id-api%C3%A2-20-strep-system
#8
Ana Paula Guarnieri Christ, Solange Rodrigues Ramos, Rodrigo Cayô, Ana Cristina Gales, Elayse Maria Hachich, Maria Inês Zanoli Sato
MALDI-TOF Mass Spectrometry Biotyping has proven to be a reliable method for identifying bacteria at the species level based on the analysis of the ribosomal proteins mass fingerprint. We evaluate the usefulness of this method to identify Enterococcus species isolated from marine recreational water at Brazilian beaches. A total of 127 Enterococcus spp. isolates were identified to species level by bioMérieux's API® 20 Strep and MALDI-TOF systems. The biochemical test identified 117/127 isolates (92%), whereas MALDI identified 100% of the isolates, with an agreement of 63% between the methods...
March 17, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28318535/organism-and-microbiome-analysis-techniques-and-implications-for-chronic-rhinosinusitis
#9
REVIEW
Ashleigh A Halderman, Andrew P Lane
Modern advances in DNA sequencing have allowed for the development of culture-independent techniques with application to infectious and inflammatory conditions, such as rhinosinusitis. Although paradigm-changing discoveries have resulted from molecular microbiologic methods for a number of diseases, insights provided into the role of bacteria in chronic rhinosinusitis have yet to be fully understood to the point of impacting clinical diagnosis and management. As culture-independent techniques continue to evolve and become more refined, it is likely that a better understanding will emerge of how the microbiome influences chronic rhinosinusitis pathogenesis and response to therapy...
March 16, 2017: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/28318331/docetaxel-chemotherapy-in-metastatic-castration-resistant-prostate-cancer-cost-of-care-in-medicare-and-commercial-populations
#10
A Armstrong, C Bui, K Fitch, T Goss Sawhney, B Brown, S Flanders, M Balk, J Deangelis, J Chambers
OBJECTIVE: To estimate the healthcare costs and characteristics of docetaxel chemotherapy episodes of care for men with metastatic castration-resistant prostate cancer (mCRPC). METHODS: We used Medicare 5% sample and MarketScan® Commercial (2010 - 2013) claims data sets to identify men with mCRPC and initial episodes of docetaxel treatment. Docetaxel episodes included docetaxel claim costs from the first claim until 30 days after the last claim, with earlier termination for death, insurance disenrollment, or the end of a 24-month look-forward period from initial docetaxel index date...
March 20, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28318327/pathologic-diagnosis-of-breast-cancer-patients-evolution-of-the-traditional-clinical-pathologic-paradigm-toward-precision-cancer-therapy
#11
B M Turner, D G Hicks
We present an updated account of breast cancer treatment and of progress toward "precision" cancer therapy; we focus on new developments in diagnostic molecular pathology and breast cancer that have emerged during the past 2 years. Increasing awareness of new prognostic and predictive methodologies, and introduction of next generation sequencing has increased understanding of both tumor biology and clinical behavior, which offers the possibility of more appropriate therapeutic choices. It remains unclear which of these testing methodologies provides the most informative and cost-effective actionable results for predictive and prognostic pathology...
March 20, 2017: Biotechnic & Histochemistry: Official Publication of the Biological Stain Commission
https://www.readbyqxmd.com/read/28318251/molecular-simulation-studies-on-the-binding-selectivity-of-type-i-inhibitors-in-the-complexes-with-ros1-versus-alk
#12
Yuanxin Tian, Yonghuan Yu, Yudong Shen, Hua Wan, Shan Chang, Tingting Zhang, Shanhe Wan, Jiajie Zhang
ROS1 and ALK are promising targets of anti-cancer drugs for non small cell lung cancer. Since they have 49% amide acid sequence homology in the kinases domain and 77% identity at the ATP binding area, some ALK inhibitors also showed some significant responses for ROS1 in the clinical trial, such as the type-I binding inhibitor crizotinib and PF-06463922. As a newly therapeutic target, selective ROS1 inhibitor is relative rarely. Moreover, the molecular basis for the selectivity of ROS1 versus ALK still remains unclear...
March 20, 2017: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28318095/clinicopathologic-and-molecular-characterization-of-myeloid-neoplasms-with-isolated-t-6-9-p23-q34
#13
V Visconte, S Shetty, B Przychodzen, C Hirsch, J Bodo, J P Maciejewski, E D Hsi, H J Rogers
INTRODUCTION: The t(6;9)(p23;q34);DEK-NUP214 [t(6;9)] abnormality is found in 0.7-1.8% of patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). FLT3-ITD mutations are detected in t(6;9) patients. The t(6;9) abnormality is associated with poor outcomes. We studied the clinicopathologic and molecular profiles of patients with AML/MDS carrying t(6;9). METHODS: We collected clinical data of nine patients with AML/MDS with isolated t(6;9) (median age = 41 years; male/female = 4/5) and genotyped DNAs using whole exome, Sanger, and targeted sequencing...
March 20, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28318071/resolution-limit-of-cylinder-diameter-estimation-by-diffusion-mri-the-impact-of-gradient-waveform-and-orientation-dispersion
#14
Markus Nilsson, Samo Lasič, Ivana Drobnjak, Daniel Topgaard, Carl-Fredrik Westin
Diffusion MRI has been proposed as a non-invasive technique for axonal diameter mapping. However, accurate estimation of small diameters requires strong gradients, which is a challenge for the transition of the technique from preclinical to clinical MRI scanners, since these have weaker gradients. In this work, we develop a framework to estimate the lower bound for accurate diameter estimation, which we refer to as the resolution limit. We analyse only the contribution from the intra-axonal space and assume that axons can be represented by impermeable cylinders...
March 20, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28318066/three-dimensional-ultrashort-echo-time-cones-t1%C3%AF-3d-ute-cones-t1%C3%AF-imaging
#15
Ya-Jun Ma, Michael Carl, Hongda Shao, Anthony S Tadros, Eric Y Chang, Jiang Du
We report a novel three-dimensional (3D) ultrashort echo time (UTE) sequence employing Cones trajectory and T1ρ preparation (UTE-Cones-T1ρ ) for quantitative T1ρ assessment of short T2 tissues in the musculoskeletal system. A basic 3D UTE-Cones sequence was combined with a spin-locking preparation pulse for T1ρ contrast. A relatively short TR was used to decrease the scan time, which required T1 measurement and compensation using 3D UTE-Cones data acquisitions with variable TRs. Another strategy to reduce the total scan time was to acquire multiple Cones spokes (Nsp ) after each T1ρ preparation and fat saturation...
March 20, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28317943/functional-conservation-and-coherence-of-hiv-1-subtype-a-vpu-alleles
#16
Bizhan Romani, Amirarsalan Kavyanifard, Elham Allahbakhshi
Functional studies of HIV-1 proteins are normally conducted using lab adapted strains of HIV-1. The extent of those functions in clinical strains is sometimes unknown. In this study, we amplified and sequenced HIV-1 Vpu from 10 Iranian patients infected with HIV-1. Phylogenetic analysis indicated that the Vpu alleles were closely related to the CRF35_AD from Iran and subtype A Vpu. We addressed some of the well-established functions of the HIV-1 Vpu, as well as some of its recently reported functions. Ability of the clinical strains of subtype A Vpu alleles for downregulation of CD4 was similar to that of the lab adapted NL4...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317797/analysis-of-a-novel-multiplex-polymerase-chain-reaction-assay-as-a-sensitive-tool-for-the-diagnosis-of-indeterminate-and-tuberculoid-forms-of-leprosy
#17
V Sundeep Chaitanya, Luz Cuello, Madhusmita Das, A Sudharsan, Pavithrra Ganesan, K Kanmani, Lakshmi Rajan, Mannam Ebenezer
OBJECTIVE/BACKGROUND: Clinical diagnosis of indeterminate and tuberculoid leprosy is often difficult due to limited and confounding signs and symptoms. In the current study, we evaluated the utility of new multiplex polymerase chain reaction (PCR) using Mycobacterium leprae-specific DNA sequences in the pseudogene regions of ML1545, ML2180, and ML2179 for PCR-based diagnosis of indeterminate leprosy (IND) and leprosy cases across the immunological spectrum. The sensitivity was compared with that of RLEP PCR...
January 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28317349/-gene-mutational-analyses-of-the-cathepsin-c-gene-in-families-with-papillon-lef%C3%A3-vre-syndrome
#18
Chen Yuanjiao, Li Chen-Jun
OBJECTIVE: This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the diagnosis and treatment of PLS. METHODS: With their consent, peripheral blood samples were obtained from the proband and his family members (his parents and older sister) for genomic DNA extraction...
August 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28317204/cockroach-allergen-serine-proteinases-isolation-sequencing-and-signalling-via-proteinase-activated-receptor-2-par2
#19
Danny J Polley, Koichiro Mihara, Rithwik Ramachandran, Harissios Vliagoftis, Bernard Renaux, Mahmoud Saifeddine, Michael O Daines, Scott Boitano, Morley D Hollenberg
BACKGROUND: Allergy to the German cockroach (Blattella germanica) is a significant asthma risk factor for inner-city communities. Cockroach, like other allergens, contains trypsin-like enzyme activity that contributes to allergenicity and airway inflammation by activating proteinase-activated receptors (PARs). To date, the enzymes responsible for the proteolytic activity of German cockroach allergen have not been characterized. OBJECTIVES: We aimed to identify, isolate and characterize the trypsin-like proteinases in German cockroach allergen extracts used for clinical skin tests...
March 20, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28317169/molecular-characteristics-of-ofloxacin-mono-resistant-mycobacterium-tuberculosis-isolates-from-new-and-previously-treated-tuberculosis-patients
#20
Zhirui Wang, Tong Xie, Cheng Mu, Chunhua Wang, Hanfang Ju, Hui Zhao, Rui Sun
BACKGROUND: Ofloxacin (OFX) resistant Mycobacterium tuberculosis (MTB) isolates have been increasingly observed and are a major concern in recent years. This study investigated the genetic mutations associated with OFX resistance among clinical OFX mono-resistant MTB isolates from new and previously treated tuberculosis patients. METHODS: A total of 50 unrelated OFX mono-resistant MTB isolates were analyzed. For all isolates, the quinolone resistance determining regions of gyrA and gyrB were PCR amplified and sequenced...
March 20, 2017: Journal of Clinical Laboratory Analysis
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