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Digital disease detection

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https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#1
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28097835/cognitive-profiles-of-patients-with-early-detected-and-treated-congenital-hypothyroidism
#2
María L Pardo Campos, Mariel Musso, Ana Keselman, Laura Gruñeiro, Ignacio Bergadá, Ana Chiesa
INTRODUCTION: Children with congenital hypothyroidism (CH) detected by newborn screening and adequately treated may have mild cognitive deficits. OBJECTIVES">To assess the intelligence quotient of children with CH and identify the presence of specific cognitive deficits. POPULATION AND METHODS: A group of 60 children with CH detected by newborn screening, who were aged 9-10 years old and received adequate treatment since their first month of life was selected and compared to a control group of 60 children without CH in the same age range...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28096363/an-rna-based-signature-enables-high-specificity-detection-of-circulating-tumor-cells-in-hepatocellular-carcinoma
#3
Mark Kalinich, Irun Bhan, Tanya T Kwan, David T Miyamoto, Sarah Javaid, Joseph A LiCausi, John D Milner, Xin Hong, Lipika Goyal, Srinjoy Sil, Melissa Choz, Uyen Ho, Ravi Kapur, Alona Muzikansky, Huidan Zhang, David A Weitz, Lecia V Sequist, David P Ryan, Raymond T Chung, Andrew X Zhu, Kurt J Isselbacher, David T Ting, Mehmet Toner, Shyamala Maheswaran, Daniel A Haber
Circulating tumor cells (CTCs) are shed into the bloodstream by invasive cancers, but the difficulty inherent in identifying these rare cells by microscopy has precluded their routine use in monitoring or screening for cancer. We recently described a high-throughput microfluidic CTC-iChip, which efficiently depletes hematopoietic cells from blood specimens and enriches for CTCs with well-preserved RNA. Application of RNA-based digital PCR to detect CTC-derived signatures may thus enable highly accurate tissue lineage-based cancer detection in blood specimens...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28092638/mr-elastography-to-measure-the-effects-of-cancer-and-pathology-fixation-on-prostate-biomechanics-and-comparison-with-t-1-t-2-and-adc
#4
Deirdre M McGrath, Jenny Lee, Warren D Foltz, Navid Samavati, Theo van der Kwast, Michael A S Jewett, Peter Chung, Cynthia Ménard, Kristy K Brock
MRI is under evaluation for image-guided intervention for prostate cancer. The sensitivity and specificity of MRI parameters is determined via correlation with the gold-standard of histopathology. Whole-mount histopathology of prostatectomy specimens can be digitally registered to in vivo imaging for correlation. When biomechanical-based deformable registration is employed to account for deformation during histopathology processing, the ex vivo biomechanical properties are required. However, these properties are altered by pathology fixation, and vary with disease...
February 7, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28081144/digital-health-tracking-physiomes-and-activity-using-wearable-biosensors-reveals-useful-health-related-information
#5
Xiao Li, Jessilyn Dunn, Denis Salins, Gao Zhou, Wenyu Zhou, Sophia Miryam Schüssler-Fiorenza Rose, Dalia Perelman, Elizabeth Colbert, Ryan Runge, Shannon Rego, Ria Sonecha, Somalee Datta, Tracey McLaughlin, Michael P Snyder
A new wave of portable biosensors allows frequent measurement of health-related physiology. We investigated the use of these devices to monitor human physiological changes during various activities and their role in managing health and diagnosing and analyzing disease. By recording over 250,000 daily measurements for up to 43 individuals, we found personalized circadian differences in physiological parameters, replicating previous physiological findings. Interestingly, we found striking changes in particular environments, such as airline flights (decreased peripheral capillary oxygen saturation [SpO2] and increased radiation exposure)...
January 2017: PLoS Biology
https://www.readbyqxmd.com/read/28073899/paper-based-microrna-expression-profiling-from-plasma-and-circulating-tumor-cells
#6
Sai Mun Leong, Karen Mei-Ling Tan, Hui Wen Chua, Mo-Chao Huang, Wai Chye Cheong, Mo-Huang Li, Steven Tucker, Evelyn Siew-Chuan Koay
BACKGROUND: Molecular characterization of circulating tumor cells (CTCs) holds great promise for monitoring metastatic progression and characterizing metastatic disease. However, leukocyte and red blood cell contamination of routinely isolated CTCs makes CTC-specific molecular characterization extremely challenging. METHODS: Here we report the use of a paper-based medium for efficient extraction of microRNAs (miRNAs) from limited amounts of biological samples such as rare CTCs harvested from cancer patient blood...
January 10, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28073896/patient-specific-circulating-tumor-dna-detection-during-neoadjuvant-chemotherapy-in-triple-negative-breast-cancer
#7
Francesca Riva, Francois-Clement Bidard, Alexandre Houy, Adrien Saliou, Jordan Madic, Aurore Rampanou, Caroline Hego, Maud Milder, Paul Cottu, Marie-Paule Sablin, Anne Vincent-Salomon, Olivier Lantz, Marc-Henri Stern, Charlotte Proudhon, Jean-Yves Pierga
BACKGROUND: In nonmetastatic triple-negative breast cancer (TNBC) patients, we investigated whether circulating tumor DNA (ctDNA) detection can reflect the tumor response to neoadjuvant chemotherapy (NCT) and detect minimal residual disease after surgery. METHODS: Ten milliliters of plasma were collected at 4 time points: before NCT; after 1 cycle; before surgery; after surgery. Customized droplet digital PCR (ddPCR) assays were used to track tumor protein p53 (TP53) mutations previously characterized in tumor tissue by massively parallel sequencing...
January 10, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28073294/circulating-tumor-cells-and-dna-for-real-time-egfr-detection-and-monitoring-of-non-small-cell-lung-cancer
#8
Jinfeng He, Wei Tan, Jingping Ma
AIM: We investigate the suitability of circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) in non-small-cell lung cancer management, which is challenging in conventional biopsies. MATERIALS & METHODS: We performed serial blood extraction from 120 patients of varying EGFR status. Molecular profiling was performed using droplet digital PCR and correlated to survival outcome. RESULTS: Overall, we observed 95% agreement using CTCs and ctDNA with conventional tissue biopsies, which indicated the disease's close correlation...
January 11, 2017: Future Oncology
https://www.readbyqxmd.com/read/28060259/measurement-of-differentially-methylated-ins-dna-species-in-human-serum-samples-as-a-biomarker-of-islet-%C3%AE-cell-death
#9
Sarah A Tersey, Jennifer B Nelson, Marisa M Fisher, Raghavendra G Mirmira
The death of islet β cells is thought to underlie the pathogenesis of virtually all forms of diabetes and to precede the development of frank hyperglycemia, especially in type 1 diabetes. The development of sensitive and reliable biomarkers of β cell death may allow for early therapeutic intervention to prevent or delay the development of diabetes. Recently, several groups including our own have reported that cell-free, differentially methylated DNA encoding preproinsulin (INS) in the circulation is correlated to β cell death in pre-type 1 diabetes and new-onset type 1 diabetes...
December 21, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28059711/t1-recovery-is-predominantly-found-in-black-holes-and-is-associated-with-clinical-improvement-in-patients-with-multiple-sclerosis
#10
C Thaler, T D Faizy, J Sedlacik, B Holst, K Stürner, C Heesen, J-P Stellmann, J Fiehler, S Siemonsen
BACKGROUND AND PURPOSE: Quantitative MR imaging parameters help to evaluate disease progression in multiple sclerosis and increase correlation with clinical disability. We therefore hypothesized that T1 values might be a marker for ongoing tissue damage or even remyelination and may help increase clinical correlation. MATERIALS AND METHODS: MR imaging was performed in 17 patients with relapsing-remitting MS at baseline and after 12 months of starting immunotherapy with dimethyl fumarate...
November 10, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28058757/prostate-health-index-density-improves-detection-of-clinically-significant-prostate-cancer
#11
Jeffrey J Tosoian, Sasha C Druskin, Darian Andreas, Patrick Mullane, Meera Chappidi, Sarah Joo, Kamyar Ghabili, Mufaddal Mamawala, Joseph Agostino, Ballentine H Carter, Alan W Partin, Lori J Sokoll, Ashley E Ross
OBJECTIVES: To explore the utility of prostate health index (PHI) density for detection of clinically-significant prostate cancer (PCa) in a contemporary cohort of men presenting for diagnostic workup of PCa. PATIENTS & METHODS: The study cohort included patients with elevated PSA (>2 ng/ml) and negative digital rectal examination who underwent PHI testing and prostate biopsy at our institution in 2015. Serum markers were prospectively measured per standard clinical pathway...
January 6, 2017: BJU International
https://www.readbyqxmd.com/read/28056580/utility-of-adjunctive-digital-subtraction-venography-for-the-treatment-of-saphenous-vein-insufficiency
#12
Ramon L Varcoe, Shannon D Thomas, Victor Bourke, Nicole M K Rübesamen, Andrew F Lennox
PURPOSE: To report the use of adjunctive venography for the treatment of superficial venous reflux. METHODS: Two hundred consecutive patients (mean age 60.9 years, range 33-86; 128 women) with chronic venous disease underwent saphenous or perforator vein ablation in 268 limbs (305 venous trunks) guided by adjunctive venography and fluoroscopy in addition to ultrasound between October 2010 and May 2016. Intraprocedural venograms were independently evaluated by 2 vascular specialists to identify the presence of venous anomalies and the need for fluoroscopy-guided maneuvers to successfully complete venous ablation...
January 1, 2017: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/28053878/microparticle-subpopulations-are-potential-markers-of-disease-progression-and-vascular-dysfunction-across-a-spectrum-of-connective-tissue-disease
#13
E M McCarthy, D Moreno-Martinez, F L Wilkinson, N J McHugh, I N Bruce, J D Pauling, M Y Alexander, B Parker
OBJECTIVE: Microparticles (MPs) are membrane-bound vesicles derived from vascular and intravascular cells such as endothelial cells (EMPs) and platelets (PMPs). We investigated EMP and PMP numbers across a spectrum of autoimmune rheumatic diseases (AIRDs) with the aim of comparing the levels of, and relationship between, EMPs and PMPs. METHODS: Patients with Systemic Lupus Erythematosus (SLE) (n = 24), Systemic Sclerosis (SSc) (n = 24), Primary Raynauds Phenomenon (RP) (n = 17) and "other CTD" (n = 15) (Primary Sjogrens Syndrome, UCTD or MCTD) as well as 15 healthy controls were recruited...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28035386/microduplication-of-7q36-3-encompassing-the-shh-long%C3%A2-range-regulator-zrs-in-a-patient-with-triphalangeal-thumb%C3%A2-polysyndactyly-syndrome-and-congenital-heart-disease
#14
Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo
Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA) has an important role in defining the anterior‑posterior axis and numbers of digits in limb bud development...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28030545/longitudinal-analysis-of-serum-autoantibody-reactivities-in-patients-with-primary-open-angle-glaucoma-and-optic-disc-hemorrhage
#15
Katrin Lorenz, Sabine Beck, Munir M Keilani, Joanna Wasielica-Poslednik, Norbert Pfeiffer, Franz H Grus
BACKGROUND: The aim of our current investigation was to analyze the autoantibody-reactivities of primary open angle glaucoma patients with optic disc hemorrhage as possibly correlated to disease progression by means of a protein microarray approach. METHODS: Sera of patients with primary open angle glaucoma and optic disc hemorrhage (n = 16) were collected directly after study inclusion (0 weeks) and after 2 weeks, 4 weeks and 12 weeks. As a control group patients with primary open angle glaucoma (n = 18) were used (0 weeks and 12 weeks)...
2016: PloS One
https://www.readbyqxmd.com/read/28029553/somatic-mutation-detection-using-various-targeted-detection-assays-in-paired-samples-of-circulating-tumor-dna-primary-tumor-and-metastases-from-patients-undergoing-resection-of-colorectal-liver-metastases
#16
Nick Beije, Jean C Helmijr, Marjolein J A Weerts, Corine M Beaufort, Matthew Wiggin, Andre Marziali, Cornelis Verhoef, Stefan Sleijfer, Maurice P H M Jansen, John W M Martens
Assessing circulating tumor DNA (ctDNA) is a promising method to evaluate somatic mutations from solid tumors in a minimally-invasive way. In a group of twelve metastatic colorectal cancer (mCRC) patients undergoing liver metastasectomy, from each patient DNA from cell-free DNA (cfDNA), the primary tumor, metastatic liver tissue, normal tumor-adjacent colon or liver tissue, and whole blood were obtained. Investigated was the feasibility of a targeted NGS approach to identify somatic mutations in ctDNA. This targeted NGS approach was also compared with NGS preceded by mutant allele enrichment using synchronous coefficient of drag alteration technology embodied in the OnTarget assay, and for selected mutations with digital PCR (dPCR)...
October 10, 2016: Molecular Oncology
https://www.readbyqxmd.com/read/28018938/computer-aided-diagnosis-of-retinopathy-in-retinal-fundus-images-of-preterm-infants-via-quantification-of-vascular-tortuosity
#17
Faraz Oloumi, Rangaraj M Rangayyan, Anna L Ells
Retinopathy of prematurity (ROP), a disorder of the retina occurring in preterm infants, is the leading cause of preventable childhood blindness. An active phase of ROP that requires treatment is associated with the presence of plus disease, which is diagnosed clinically in a qualitative manner by visual assessment of the existence of a certain level of increase in the thickness and tortuosity of retinal vessels. The present study performs computer-aided diagnosis (CAD) of plus disease via quantitative measurement of tortuosity in retinal fundus images of preterm infants...
October 2016: Journal of Medical Imaging
https://www.readbyqxmd.com/read/28012755/comparison-of-digital-rectal-examination-and-serum-prostate-specific-antigen-in-the-early-detection-of-prostate-cancer-results-of-a-multicenter-clinical-trial-of-6-630-men
#18
William J Catalona, Jerome P Richie, Frederick R Ahmann, M'liss A Hudson, Peter T Scardino, Robert C Flanigan, Jean B DeKernion, Timothy L Ratliff, Louis R Kavoussi, Bruce L Dalkin, W Bedford Waters, Michael T MacFarlane, Paula C Southwick
To compare the efficacy of digital rectal examination and serum prostate specific antigen (PSA) in the early detection of prostate cancer, we conducted a prospective clinical trial at 6 university centers of 6,630 male volunteers 50 years old or older who underwent PSA determination (Hybritech Tandom-E or Tandem-R assays) and digital rectal examination. Quadrant biopsies were performed if the PSA level was greater than 4 μg./l. or digital rectal examination was suspicious, even if transrectal ultrasonography revealed no areas suspicious for cancer...
December 21, 2016: Journal of Urology
https://www.readbyqxmd.com/read/28009985/diagnostic-and-prognostic-value-of-circulating-tumor-dna-in-gastric-cancer-a-meta-analysis
#19
Yunhe Gao, Kecheng Zhang, Hongqing Xi, Aizhen Cai, Xiaosong Wu, Jianxin Cui, Jiyang Li, Zhi Qiao, Bo Wei, Lin Chen
BACKGROUND: Circulating tumor DNA (ctDNA) has offered a minimally invasive approach for detection and measurement of gastric cancer (GC). However, its diagnostic and prognostic value in gastric cancer still remains unclear. RESULTS: A total of 16 studies comprising 1193 GC patients met our inclusion criteria. The pooled sensitivity and specificity were 0.62 (95% confidence intervals (CI) 0.59-0.65) and 0.95 (95% CI 0.93-0.96), respectively. The AUSROC (area under SROC) curve was 0...
December 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/28002969/consolidation-of-molecular-testing-in-clinical-virology
#20
Carolina Scagnolari, Ombretta Turriziani, Katia Monteleone, Alessandra Pierangeli, Guido Antonelli
The development of quantitative methods for the detection of viral nucleic acids have significantly improved our ability to manage disease progression and to assess the efficacy of antiviral treatment. Moreover, major advances in molecular technologies during the last decade have allowed the identification of new host genetic markers associated with antiviral drug response but have also strongly revolutionized the way we see and perform virus diagnostics in the coming years. Areas covered: In this review, we describe the history and development of virology diagnostic methods, dedicating particular emphasis on the gradual evolution and recent advances toward the introduction of multiparametric platforms for the syndromic diagnosis...
December 24, 2016: Expert Review of Anti-infective Therapy
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