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https://www.readbyqxmd.com/read/28527402/a-rare-e13a3-b2a3-bcr-abl1-fusion-transcript-with-normal-karyotype-in-chronic-myeloid-leukemia-the-challenges-in-diagnosis-and-monitoring-minimal-residual-disease-mrd
#1
M-H Duan, H Li, H Cai
Patients with chronic myeloid leukemia (CML) have a t (9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL1 fusion gene. For many years, conventional karyotyping has been used as the standard diagnostic tool for t (9;22) (q34;q11.2). However, it has several limitations that may lead to failure for detecting BCR-ABL1 gene rearrangements in around 5% of all CML patients. Although reverse transcription polymerase chain reaction (RT-PCR) has evolved as a sensitive method for detecting BCR-ABL1 translocation, this method fail to detect certain BCR-ABL1 fusion transcript type, such as e13a3 (also known as b2a3), as a result of many commercially available and laboratory-developed primer sets...
May 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28527059/personality-disorders-in-cluster-headache-a-study-using-the-millon-clinical-multiaxial-inventory-iii
#2
Sylvie Hélène Marie Jeanne Piacentini, Lara Draghi, Alberto Proietti Cecchini, Massimo Leone
A great deal of studies suggests that cluster headache (CH) patients are usually comorbid to anxiety-mood spectrum disorders and psychopathological symptoms; however, the personality profiles reported in the literature strictly depend on type of assessment used. Psychiatric comorbidities have been extensively studied in migraine and they are recognized to represent a major risk factor associated with poorer outcome, playing a role in the headache chronification process at once as cause and consequence of it...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28526818/essential-hypertension-a-filtered-serum-based-metabolomics-study
#3
Keerti Ameta, Ashish Gupta, Sudeep Kumar, Rishi Sethi, Deepak Kumar, Abbas Ali Mahdi
Despite the easy and reliable methods of blood pressure measurement, the screening of essential hypertension (EH) is usually ignored due to delayed onset of symptoms. A probe into the biochemical changes in hypertension would serve as a welcome asset to provide insight into the mechanistic aspects of EH. Filtered serum samples from 64 EH patients and 59 healthy controls (HC) were analysed using 800 MHz nuclear magnetic resonance (NMR) spectroscopy. Application of principal component analysis (PCA) and orthogonal partial least-squares discriminant analysis (OPLS-DA) following receiver operating characteristic (ROC) curve of NMR data reveals significantly perturbed metabolites: alanine, arginine, methionine, pyruvate, adenine, and uracil...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526812/soluble-axl-is-an-accurate-biomarker-of-cirrhosis-and-hepatocellular-carcinoma-development-results-from-a-large-scale-multicenter-analysis
#4
Mirko Dengler, Katharina Staufer, Heidemarie Huber, Rudolf Stauber, Heike Bantel, Karl Heinz Weiss, Patrick Starlinger, Hannelore Pock, Petra Klöters-Plachky, Daniel N Gotthardt, Peter Rauch, Carolin Lackner, Judith Stift, Christine Brostjan, Thomas Gruenberger, Takashi Kumada, Hidenori Toyoda, Toshifumi Tada, Thomas S Weiss, Michael Trauner, Wolfgang Mikulits
Patients with chronic liver disease (CLD) and cirrhosis are at high risk for hepatocellular carcinoma (HCC). Current diagnostic tools for HCC detection include imaging techniques and serum biomarkers such as α-fetoprotein (AFP). Yet, these methods are limited in sensitivity and specificity to accurately detect early HCC. Here we focused on the potential of soluble Axl (sAxl) as a biomarker in CLD patients by analyzing serum samples of 1067 patients and healthy controls from centers in Europe and Asia. We show that serum concentrations of sAxl were significantly increased at early (82...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28526043/management-of-rare-diseases-of-the-head-neck-and-teeth-results-of-a-french-population-based-prospective-8-year-study
#5
Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla
BACKGROUND: In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France...
May 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28525852/absolute-quantification-of-dna-methylation-using-microfluidic-chip-based-digital-pcr
#6
Zhenhua Wu, Yanan Bai, Zule Cheng, Fangming Liu, Ping Wang, Dawei Yang, Gang Li, Qinghui Jin, Hongju Mao, Jianlong Zhao
Hypermethylation of CpG islands in the promoter region of many tumor suppressor genes downregulates their expression and in a result promotes tumorigenesis. Therefore, detection of DNA methylation status is a convenient diagnostic tool for cancer detection. Here, we reported a novel method for the integrative detection of methylation by the microfluidic chip-based digital PCR. This method relies on methylation-sensitive restriction enzyme HpaII, which cleaves the unmethylated DNA strands while keeping the methylated ones intact...
May 12, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28525721/development-and-application-of-a-screening-method-of-absolute-qpcr-to-detect-the-abuse-of-sex-steroid-hormone-administration-in-male-bovine
#7
Laura Starvaggi Cuccuzza, Bartolomeo Biolatti, Sara Divari, Paola Pregel, Frine E Scaglione, Alessandra Sereno, Francesca T Cannizzo
A method for absolute quantification of regucalcin gene by quantitative PCR was developed to confirm that the decrease of regucalcin gene expression in the testis is a valid biomarker for detection of sex steroid hormone treatment in bovine husbandry. An external standard curve was developed with TaqMan technology. Based on in vivo experiments, specificity, sensitivity and criterion value of this potential biomarker were calculated by means of a ROC curve. Then, regucalcin gene expression was evaluated in beef and veal calves for human consumption...
May 19, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28525653/predicted-philogeny-secondary-conformational-structure-and-epitope-antigenicity-of-immunological-sequences-in-poultry
#8
L J Lara, A P Peconick, É J Fassani, A M P Júnior, P R B Chalfun, D L Raymundo, T A Barçante, J M de P Barçante
Poultry production is faced with different types of stresses that are responsible for issues of animal welfare as well as for economic losses. Moreover, the immunity decreases when animals are stressed. In silico analyses are important in reducing the cost and in increasing the accuracy of scientific results. A bioinformatics tool was used to perform ontology studies on 15 different immunological sequences of poultry. The mRNA structures and sequences with maximum antigenic residues were also predicted. No homology was found between the sequences of poultry and mammals...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28525561/decade-long-profile-of-imaging-biomarker-use-in-ophthalmic-clinical-trials
#9
Edoardo Villani, Domenico Massaro, Matteo Scaramuzzi, Pedram Hamrah, Felipe A Medeiros, Paolo Nucci
Purpose: The purpose of this study was to investigate the use of imaging biomarkers in published clinical trials (CTs) in ophthalmology and its eventual changes during the past 10 years. Methods: We sampled from published CTs in the fields of cornea, retina, and glaucoma between 2005-2006 and 2015-2016. Data collected included year of publication, phase, subspecialty, location, compliance with Consolidated Standards for Reporting Trials, impact factor, presence and use of imaging biomarkers (diagnostic, prognostic and predictive; primary and secondary surrogate endpoints), and use of centralized reading centers...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28525322/a-systemic-review-of-existing-serological-possibilities-to-diagnose-canine-osteoarthritis-with-a-particular-focus-on-extracellular-matrix-proteoglycans-and-protein
#10
M Shahid, G Manchi, P Slunsky, O Naseer, A Fatima, B Leo, J Raila
Extra-cellular matrix (ECM) components are important and their stabilization is significant in maintaining normal healthy joint environment. In osteoarthritis (OA), ECM components are altered and indicate disease progression. The joint ECM is composed of proteoglycans (aggrecan, perlecan, inter α-trypsin inhibitor), glycoproteins (fibronectin, lubricin, COMP) and collagen types (most abundantly collagen type II) which represent structural and functional transformation during disease advancement. ECM investigation revealed significant biomarkers of OA that could be used as a diagnostic and therapeutic tool in different canine orthopedic diseases...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28524118/novel-radiolabeled-bisphosphonates-for-pet-diagnosis-and-endoradiotherapy-of-bone-metastases
#11
REVIEW
Nina Pfannkuchen, Marian Meckel, Ralf Bergmann, Michael Bachmann, Chandrasekhar Bal, Mike Sathekge, Wolfgang Mohnike, Richard P Baum, Frank Rösch
Bone metastases, often a consequence of breast, prostate, and lung carcinomas, are characterized by an increased bone turnover, which can be visualized by positron emission tomography (PET), as well as single-photon emission computed tomography (SPECT). Bisphosphonate complexes of (99m)Tc are predominantly used as SPECT tracers. In contrast to SPECT, PET offers a higher spatial resolution and, owing to the (68)Ge/(68)Ga generator, an analog to the established (99m)Tc generator exists. Complexation of Ga(III) requires the use of chelators...
May 18, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28524076/-18-f-fluorinated-carboplatin-and-111-in-liposome-for-image-guided-drug-delivery
#12
Narottam Lamichhane, Gajanan K Dewkar, Gobalakrishnan Sundaresan, Rebecca N Mahon, Jamal Zweit
Radiolabeled liposomes have been employed as diagnostic tools to monitor in vivo distribution of liposomes in real-time, which helps in optimizing the therapeutic efficacy of the liposomal drug delivery. This work utilizes the platform of [(111)In]-Liposome as a drug delivery vehicle, encapsulating a novel (18)F-labeled carboplatin drug derivative ([(18)F]-FCP) as a dual-molecular imaging tool as both a radiolabeled drug and radiolabeled carrier. The approach has the potential for clinical translation in individual patients using a dual modal approach of clinically-relevant radionuclides of (18)F positron emission tomography (PET) and (111)In single photon emission computed tomography (SPECT)...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28523980/diverse-endometrial-mrna-signatures-during-the-window-of-implantation-in-patients-with-repeated-implantation-failure
#13
Cheng Shi, Hong Jing Han, Li Juan Fan, Jing Guan, Xing Bang Zheng, Xi Chen, Rong Liang, Xiao Wei Zhang, Kun Kun Sun, Qing Hua Cui, Huan Shen
High endometrial receptivity in the window of implantation (WOI) is essential for successful implantation. However, a diagnostic tool with high specificity for impaired endometrial receptivity remains to be developed. We collected endometrium specimens during the WOI from patients with RIF and women who conceived after one IVF/ICSI attempt. We conducted mRNA microarray on the samples followed by relevant comparative and functional analysis. Microarray analysis revealed 357 dysregulated mRNAs between the two groups...
May 19, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28523849/validation-of-a-parent-reported-diagnostic-instrument-in-a-u-s-referral-population-the-childhood-eczema-questionnaire
#14
Sabra Leitenberger, Tamar Hajar, Eric L Simpson, Laura von Kobyletzki, Jon M Hanifin
BACKGROUND/OBJECTIVES: There is a paucity of validated tools for diagnosing atopic dermatitis (AD) in very young children that do not rely on clinical evaluation. The Childhood Eczema Questionnaire (CEQ)-a diagnostic tool for AD in children younger than 2 years that a caretaker can complete-was recently validated in Sweden. The objective of this study was to validate the tool in a U.S. POPULATION: As a substudy, we added an additional question that was independently assessed...
May 19, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28523439/magnetic-resonance-imaging-of-painful-swollen-legs-in-the-emergency-department-a-pictorial-essay
#15
REVIEW
Ashish Chawla, Niraj Dubey, Kian Ming Chew, Dinesh Singh, Vishal Gaikwad, Wilfred Cg Peh
Patients presenting with a painful swollen leg are not infrequently encountered at the emergency department and can pose a diagnostic dilemma for attending physicians. The potential causes of leg pain and swelling include trauma, infection, inflammation, and neurogenic, vascular, and iatrogenic conditions; with magnetic resonance imaging (MRI) being an important tool in evaluation. We describe the MRI features of various conditions causing painful swollen legs. We also discuss the differential diagnosis and the useful clinical and laboratory findings that radiologists should be aware of, in order to arrive at an accurate diagnosis...
May 18, 2017: Emergency Radiology
https://www.readbyqxmd.com/read/28523302/the-use-of-ebus-tbna-and-rose-in-the-diagnosis-of-lung-cancer
#16
Mărioara Şimon, Bogdan Pop, Iuliana Lăcrămioara Toma, Aletta Kinga Vallasek, Ioan Şimon
Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive method for diagnosing and staging of lung cancer. EBUS-TBNA obtained small specimens. Rapid on-site examination (ROSE) is a rapid, real-time examination method. The aim of our study is to evaluate the impact of ROSE on adequate specimen sampling, rapid results and high diagnostic rate. We present the experience of the Department of Bronchology, "Leon Daniello" Clinic of Pulmonology, Cluj-Napoca, Romania, with EBUS-TBNA as a tool for diagnostic of adenopathies of unknown etiology...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28523252/prevalence-of-sarcopenia-in-the-world-a-systematic-review-and-meta-analysis-of-general-population-studies
#17
REVIEW
Gita Shafiee, Abbasali Keshtkar, Akbar Soltani, Zeinab Ahadi, Bagher Larijani, Ramin Heshmat
BACKGROUND: Sarcopenia, an age-related decline in muscle mass and function, is one of the most important health problems in elderly with a high rate of adverse outcomes. However, several studies have investigated the prevalence of sarcopenia in the world, the results have been inconsistent. The current systematic review and meta- analysis study was conducted to estimate the overall prevalence of sarcopenia in both genders in different regions of the world. METHODS: Electronic databases, including MEDLINE (via PubMed), SCOPUS and Web of Science were searched between January 2009 and December 2016...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28523158/pleural-and-peritoneal-mesotheliomas-in-the-friuli-venezia-giulia-register-data-analysis-from-1995-to-2015-in-northeastern-italy
#18
Flavia D'Agostin, Paola De Michieli, Carolin Chermaz, Corrado Negro
BACKGROUND: The Friuli Venezia Giulia Mesothelioma Register contains a case-list of 1,109 mesotheliomas (1,034 pleural, 75 peritoneal) during 1995-2015. Exposure data are available for almost all cases. The aim was to assess mesothelioma incidence in the Region, an area with several shipyards, and to investigate determinants of mesothelioma latency among occupational cases. METHODS: Incidence rates were calculated. Univariate and multivariate analyses were performed to estimate latency time by anatomical site, gender, diagnostic period and industry sector...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28522951/diagnostic-and-prognostic-value-of-preoperative-18-f-fluorodeoxyglucose-positron-emission-tomography-computed-tomography-for-colorectal-cancer-comparison-with-conventional-computed-tomography
#19
Joo Young Lee, Soon Man Yoon, Jeong Tae Kim, Ki Bae Kim, Mi Jin Kim, Jae Geun Park, Taek-Gu Lee, Sang-Jeon Lee, Sung Soo Koong, Joung-Ho Han, Hee Bok Chae, Seon Mee Park, Sei Jin Youn
BACKGROUND/AIMS: (18)F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) has been used for preoperative staging of colorectal cancer (CRC). However, the diagnostic accuracy of FDG-PET/CT for detection of lymph node or distant metastasis and its prognostic role have not been well established. We therefore evaluated the diagnostic and prognostic value of FDG-PET/CT in comparison with conventional CT for CRC. METHODS: We investigated 220 patients who underwent preoperative FDG-PET/CT and CT, followed by curative surgery for CRC...
April 2017: Intestinal Research
https://www.readbyqxmd.com/read/28521798/use-of-malaria-rdts-in-various-health-contexts-across-sub-saharan-africa-a-systematic-review
#20
Matthew R Boyce, Wendy P O'Meara
BACKGROUND: The World Health Organization recommends parasitological confirmation of malaria prior to treatment. Malaria rapid diagnostic tests (RDTs) represent one diagnostic method that is used in a variety of contexts to overcome limitations of other diagnostic techniques. Malaria RDTs increase the availability and feasibility of accurate diagnosis and may result in improved quality of care. Though RDTs are used in a variety of contexts, no studies have compared how well or effectively RDTs are used across these contexts...
May 18, 2017: BMC Public Health
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