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Molecular Diagnosis

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https://www.readbyqxmd.com/read/28334876/pdgfrb-gain-of-function-mutations-in-sporadic-infantile-myofibromatosis
#1
Florence A Arts, Raf Sciot, Bénédicte Brichard, Marleen Renard, Audrey de Rocca Serra, Guillaume Dachy, Laura A Noël, Amélie I Velghe, Christine Galant, Maria Debiec-Rychter, An Van Damme, Miikka Vikkula, Raphaël Helaers, Nisha Limaye, Hélène A Poirel, Jean-Baptiste Demoulin
Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and childhood. Multifocal nodules with visceral lesions are associated with a poor prognosis. A few familial cases have been linked to mutations in various genes including PDGFRB. In this study, we sequenced PDGFRB, which encodes a receptor tyrosine kinase, in 16 cases of myofibromatosis or solitary myofibroma. Mutations in the coding sequence of PDGFRB were identified in 6 out of 8 patients with the sporadic multicentric form of the disease and in 1 out of 8 patients with isolated myofibroma...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334324/understanding-the-genetic-landscape-of-small-cell-carcinoma-of-the-urinary-bladder-and-implications-for-diagnosis-prognosis-and-treatment-a-review
#2
Erik J Kouba, Liang Cheng
Importance: Small cell carcinoma of the urinary bladder is a rare and aggressive neuroendocrine tumor of the urinary bladder. Although research has been performed since the first case was reported in 1981, most of our understanding of the disease treatments has been extrapolated from small cell carcinoma of the lung. However, current data on patient survival have been stagnant. Observations: With the advent of advanced molecular diagnostic methods, a new potential for understanding the origin and treatment of small cell carcinoma of the urinary bladder has become evident...
March 23, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28334091/landscape-level-patterns-of-elevated-fs1-asian-allele-frequencies-in-populations-of-gypsy-moth-lepidoptera-erebidae-at-a-northern-u-s-boundary
#3
Marissa A Streifel, Patrick C Tobin, Lucia Hunt, Hannah Nadel, John J Molongoski, Brian H Aukema
From a regulatory perspective, Asian gypsy moth is a species complex consisting of three species of Lymantria and two subspecies of Lymantria dispar (L.), differing from the European subspecies, L. dispar dispar (L.), by having consistently flight-capable females. As such, the invasion potential in North America is thought to exceed that of European gypsy moth. USDA-APHIS therefore has a monitoring program to detect Asian gypsy moth at high-risk introduction pathways. Molecular markers are used to improve the diagnosis of Asian gypsy moth...
February 17, 2017: Environmental Entomology
https://www.readbyqxmd.com/read/28333859/multicenter-prospective-study-for-laboratory-diagnosis-of-hhv8-infection-in-solid-organ-donors-and-transplant-recipients-and-evaluation-of-the-clinical-impact-after-transplantation
#4
Angela Chiereghin, Patrizia Barozzi, Evangelia Petrisli, Giulia Piccirilli, Liliana Gabrielli, Giovanni Riva, Leonardo Potenza, Gianni Cappelli, Nicola De Ruvo, Irene Libri, Umberto Maggiore, Maria Cristina Morelli, Luciano Potena, Paola Todeschini, Dino Gibertoni, Manuel Labanti, Gabriela Sangiorgi, Gaetano La Manna, Antonio Daniele Pinna, Mario Luppi, Tiziana Lazzarotto
BACKGROUND: We performed serological and molecular pretransplant screening in solid organ transplant (SOT) donors and recipients in north-central Italy and a surveillance program for human herpes virus 8 (HHV8) infection after transplant, aiming to establish an optimal management of HHV8 infection in SOT recipients. METHODS: For pretransplant HHV8 screening in both donors and recipients, 6 serological (4 indirect immunofluorescent assays (IFA) and 2 enzyme-linked immunosorbent assays (ELISA) - both HHV8 lytic and latent antigen-based) and 2 molecular assays were used...
March 22, 2017: Transplantation
https://www.readbyqxmd.com/read/28333167/a-complex-intragenic-rearrangement-of-ercc8-in-chinese-siblings-with-cockayne-syndrome
#5
Hua Xie, Xiaoyan Li, Jiping Peng, Qian Chen, ZhiJie Gao, Xiaozhen Song, WeiYu Li, Jianqiu Xiao, Caihua Li, Ting Zhang, James F Gusella, Jianmin Zhong, Xiaoli Chen
Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical grounds to have Cockayne syndrome. Using multiple molecular techniques, including whole exome sequencing, array comparative genomic hybridization and quantitative polymerase chain reaction, we identified compound heterozygosity for a maternal splicing variant (chr5:60195556, NM_000082:c...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332640/leptospirosis-in-domestic-animals-in-france-serological-results-from-1988-to-2007
#6
G André-Fontaine
Leptospirosis is a common infection in domestic animals. The microscopic agglutination test (MAT) is used for serological diagnosis. From 1988 to 2007, the Leptospira Medical and Molecular Bacteriology Laboratory at the Nantes National College of Veterinary Medicine, Food Science and Engineering used the MAT to test serum samples from more than 40,000 cattle, 40,000 pigs, 20,000 horses and 9,500 dogs. Five Leptospira serogroups were prominent, with specific variations within the four animal species: Icterohaemorrhagiae, Australis, Sejroë, Grippotyphosa and Autumnalis...
December 2016: Revue Scientifique et Technique
https://www.readbyqxmd.com/read/28332617/molecular-epidemiology-of-acute-hemorrhagic-conjunctivitis-caused-by-coxsackie-a-type-24-variant-in-china-2004-2014
#7
Li Zhang, Na Zhao, Xiaodan Huang, Xiuming Jin, Xingyi Geng, Ta-Chien Chan, Shelan Liu
To understand control interventions, the molecular epidemiology of acute hemorrhagic conjunctivitis (AHC) was investigated from 2004 to 2014.A total of 613,485 AHC cases (annualized cases 55,771) with two deaths were included. Our findings showed that AHC was reported in all provinces, predominantly in Southern and Eastern China. The incidence rates were highest in 2007 (5.65/100,000) and 2010 (21.78/100,000) respectively. A clear seasonal pattern was identified with a peak from August to October. AHC cases occurred in all age groups; however, five to 14 years was the predominant group [23...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332488/parkinson-disease
#8
REVIEW
Werner Poewe, Klaus Seppi, Caroline M Tanner, Glenda M Halliday, Patrik Brundin, Jens Volkmann, Anette-Eleonore Schrag, Anthony E Lang
Parkinson disease is the second-most common neurodegenerative disorder that affects 2-3% of the population ≥65 years of age. Neuronal loss in the substantia nigra, which causes striatal dopamine deficiency, and intracellular inclusions containing aggregates of α-synuclein are the neuropathological hallmarks of Parkinson disease. Multiple other cell types throughout the central and peripheral autonomic nervous system are also involved, probably from early disease onwards. Although clinical diagnosis relies on the presence of bradykinesia and other cardinal motor features, Parkinson disease is associated with many non-motor symptoms that add to overall disability...
March 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28332073/aicardi-gouti%C3%A3-res-syndrome-unusual-neuro-radiological-manifestations
#9
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Hala T El-Bassyouni, Laila Effat, Maha S Zaki
Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts...
March 23, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28331932/pulmonary-embolism-and-in-situ-pulmonary-artery-thrombosis-in-paediatrics-a-systematic-review
#10
Madhvi Rajpurkar, Tina Biss, Ernest Amankwah, Denise Martinez, Suzan Williams, C Heleen Van Ommen, Neil A Goldenberg
Data on paediatric pulmonary embolism (PE) are scarce. We sought to systematically review the current literature on childhood PE and conducted a search on paediatric PE via PubMed (1946-2013) and Embase (1980-2013). There was significant heterogeneity in reported data. Two patterns were noted: classic thromboembolic PE (TE-PE) and in situ pulmonary artery thrombosis (ISPAT). Mean age of presentation for TE-PE was 14.86 years, and 51 % of cases were males. The commonest method for diagnosis of TE-PE was contrast CT with angiography (74 % of patients)...
March 23, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28331826/pulmonary-ground-glass-opacity-computed-tomography-features-histopathology-and-molecular-pathology
#11
REVIEW
Jian-Wei Gao, Stefania Rizzo, Li-Hong Ma, Xiang-Yu Qiu, Arne Warth, Nobuhiko Seki, Mizue Hasegawa, Jia-Wei Zou, Qian Li, Marco Femia, Tang-Feng Lv, Yong Song
The incidence of pulmonary ground-glass opacity (GGO) lesions is increasing as a result of the widespread use of multislice spiral computed tomography (CT) and the low-dose CT screening for lung cancer detection. Besides benign lesions, GGOs can be a specific type of lung adenocarcinomas or their preinvasive lesions. Evaluation of pulmonary GGO and investigation of the correlation between CT imaging features and lung adenocarcinoma subtypes or driver genes can be helpful in confirming the diagnosis and in guiding the clinical management...
February 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28331811/proteomic-analysis-of-bronchoalveolar-lavage-fluid-balf-from-lung-cancer-patients-using-label-free-mass-spectrometry
#12
Abduladim Hmmier, Michael Emmet O'Brien, Vincent Lynch, Martin Clynes, Ross Morgan, Paul Dowling
BACKGROUND: Lung cancer is the leading cause of cancer-related mortality in both men and women throughout the world. The need to detect lung cancer at an early, potentially curable stage, is essential and may reduce mortality by 20%. The aim of this study was to identify distinct proteomic profiles in bronchoalveolar fluid (BALF) and plasma that are able to discriminate individuals with benign disease from those with non-small cell lung cancer (NSCLC). METHODS: Using label-free mass spectrometry analysis of BALF during discovery-phase analysis, a significant number of proteins were found to have different abundance levels when comparing control to adenocarcinoma (AD) or squamous cell lung carcinoma (SqCC)...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28331802/molecular-epidemiology-and-pathology-of-spirorchiid-infection-in-green-sea-turtles-chelonia-mydas
#13
Phoebe A Chapman, Helen Owen, Mark Flint, Ricardo J Soares Magalhães, Rebecca J Traub, Thomas H Cribb, Myat T Kyaw-Tanner, Paul C Mills
Spirorchiid blood fluke infections affect endangered turtle populations globally, and are reported as a common cause of mortality in Queensland green sea turtles. Both the flukes and their ova are pathogenic and can contribute to the stranding or death of their host. Of particular interest are ova-associated brain lesions, which have been associated with host neurological deficits. Accurate estimations of disease frequency and the relative effect of infection relating to different spirorchiid species are made difficult by challenges in morphological identification of adults of some genera, and a lack of species-level identifying features for ova...
April 2017: International Journal for Parasitology. Parasites and Wildlife
https://www.readbyqxmd.com/read/28331556/the-genetic-basis-of-colonic-adenomatous-polyposis-syndromes
#14
REVIEW
Bente A Talseth-Palmer
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diagnosis of FAP might molecularly show a different diagnosis...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28331547/application-of-high-resolution-genomic-profiling-in-the-differential-diagnosis-of-liposarcoma
#15
Magdalena Koczkowska, Beata Stefania Lipska-Ziętkiewicz, Mariola Iliszko, Janusz Ryś, Markku Miettinen, Jerzy Lasota, Wojciech Biernat, Agnieszka Harazin-Lechowska, Anna Kruczak, Janusz Limon
BACKGROUND: Rarity and heterogeneity of liposarcomas (LPS) make their diagnosis difficult even for sarcoma-experts pathologists. The molecular mechanism underlying the development and progression of liposarcomas (LPS) remains only partially known. In order to identify and compare the genomic profiles, we analyzed array-based comparative genomic hybridization (array-CGH) profiles of 66 liposarcomas, including well-differentiated (WDLPS), dedifferentiated (DDLPS) and myxoid (MLPS) subtypes...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28331134/significance-and-value-of-endomyocardial-biopsy-based-on-our-own-experience
#16
Hatsue Ishibashi-Ueda, Taka-Aki Matsuyama, Keiko Ohta-Ogo, Yoshihiko Ikeda
Endomyocardial biopsy (EMB) has been established in parallel with the development of percutaneous catheter technology for the diagnosis of cardiac diseases. It was developed in the early 1960 s in Japan by Drs. Konno, Sakakibara and Sekiguchi of Tokyo Women's Medical University. EMB is a valuable and useful, but invasive, modality for making a definite diagnosis in diseases such as myocarditis and secondary cardiomyopathies, which are often difficult to diagnose by imaging modality alone. In the field of heart transplantation, the histology of EMB helps monitor rejection to allografts...
March 22, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28330705/advances-in-the-pathology-and-molecular-biology-of-sarcomas-and-the-impact-on-treatment
#17
K Thway, J Noujaim, R L Jones, C Fisher
Sarcomas are a complex group of childhood and adult neoplasms with differentiation towards mesenchymal tissues that can occur at almost every anatomic site. Although pathologically diverse, they frequently show similar clinical presentations and radiological findings, such that correct histopathologic diagnosis, utilising the appropriate ancillary immunohistochemical and molecular techniques, underpins their management. This article gives an overview of the pathology, coupled with recent advances in molecular biology, of a selection of soft tissue sarcomas from a clinicopathological perspective, discussing histopathological diagnosis with developments in molecular diagnosis and the incorporation of these findings into diagnostic practice and current and potential targeted treatments...
March 19, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/28330585/molecular-detection-of-leptospirosis-and-melioidosis-co-infection-a-case-report
#18
Mohammad Ridhuan Mohd Ali, Amira Wahida Mohamad Safiee, Padmaloseni Thangarajah, Mohd Hashairi Fauzi, Alwi Muhd Besari, Nabilah Ismail, Chan Yean Yean
Leptospirosis and melioidosis are important tropical infections caused by Leptospira and Burkholdheria pseudomallei, respectively. As both infections share similar clinical manifestations yet require different managements, complementary laboratory tests are crucial for the diagnosis. We describe a case of Leptospira and B. pseudomallei co-infection in a diabetic 40-year-old woman with history of visit to a freshwater camping site in northern Malaysia. To our knowledge, this is the first case of such double-infection, simultaneously demonstrated by molecular approach...
March 15, 2017: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/28330422/bilateral-rectal-sheath-hematomas-after-low-molecular-weight-heparin-treatment-in-uremia
#19
Lu Xu, Lei Liu, Xinjian Li
Rectus sheath hematomas (RSHs) are uncommon. They are usually unilateral and rarely bilateral. In this paper, we report the first case of spontaneous bilateral RSHs in a uremic patient after the administration of the first dose of low-molecular weight heparin during hemodialysis. The most interesting aspect of this case is that the main symptom of RSH in our patient was urinary bladder irritation. We highlight the importance of the prompt diagnosis and management of this medical emergency.
November 2017: Renal Failure
https://www.readbyqxmd.com/read/28330082/mutations-in-the-plastidic-accase-gene-endowing-resistance-to-accase-inhibiting-herbicide-in-phalaris-minor-populations-from-india
#20
Nishu Raghav, Rajender Singh, Rajender Singh Chhokar, Davinder Sharma, Raman Kumar
Littleseed canarygrass (Phalaris minor Retz.) is one of the most common and troublesome weeds infesting wheat crop in India. Repeated use during the last two decades of the ACCase-inhibiting herbicide (clodinafop) to control this weed has resulted in the occurrence of resistance. Fifty-three P. minor populations were collected from wheat fields in Haryana and Punjab states of India. The dose-response assays indicated that 29 populations were resistant, 23 populations were susceptible and one population was moderately resistant to clodinafop...
June 2016: 3 Biotech
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