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Molecular diagnostic

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https://www.readbyqxmd.com/read/28545106/serum-microrna-signatures-as-liquid-biopsies-for-interrogating-hepatotoxic-mechanisms-and-liver-pathogenesis-in-human
#1
Julian Krauskopf, Theo M de Kok, Shelli J Schomaker, Mark Gosink, Deborah A Burt, Patricia Chandler, Roscoe L Warner, Kent J Johnson, Florian Caiment, Jos C Kleinjans, Jiri Aubrecht
MicroRNAs (miRNAs) released into the peripheral circulation upon cellular injury have shown a promise as a new class of tissue-specific biomarkers. We were first to demonstrate that next-generation sequencing analysis of serum from human subjects with acetaminophen-induced liver injury revealed a specific signature of circulating miRNAs. We consequently hypothesized that different types of hepatic liver impairments might feature distinct signatures of circulating miRNAs and that this approach might be useful as minimally invasive diagnostic "liquid biopsies" enabling the interrogation of underlying molecular mechanisms of injury in distant tissues...
2017: PloS One
https://www.readbyqxmd.com/read/28545033/microrna-expression-levels-as-diagnostic-biomarkers-for-intraductal-papillary-mucinous-neoplasm
#2
Lei Wang, Jianming Zheng, Chang Sun, Li Wang, Gang Jin, Lei Xin, Zhendong Jin, Dong Wang, Zhaoshen Li
Intraductal papillary mucinous neoplasms (IPMNs) are deadly exocrine mucinous tumors. Currently the molecular features and diagnostic markers of IPMNs are not well understood. In this study, we performed microRNA (miRNA) profiling assays to study the potential roles of miRNAs in IPMNs using 78 cases of IPMN patients and controls. When comparing the miRNA expression between IPMN patient samples and controls, we found that miR-210, miR-223, miR-221, miR-155 and miR-187 were differentially expressed in normal pancreas and IPMNs...
May 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28544969/prior-treatment-with-non-anti-tb-antibiotics-and-the-duration-of-symptoms-have-no-effect-on-diagnostics-of-tuberculous-meningitis
#3
Marcin Paciorek, Andrzej Pihowicz, Dominik Bursa, Joanna Schöntaler Humięcka, Justyna D Kowalska, Mateusz Antosiewicz, Magda E Thompson, Agata Skrzat-Wojdacz, Agnieszka Bednarska, Andrzej Horban
PURPOSE: Our objective was to investigate whether diagnosis of tuberculous meningitis (TBM) with microbiological and molecular analysis was affected by prior empirical non anti tuberculosis antibiotics or by duration of symptoms before lumbar puncture. MATERIALS AND METHODS: We retrospectively evaluated medical records of patients with TBM confirmed by positive culture, nucleic acid amplification techniques (NAATs) or Ehrlich-Ziehl-Neelsen staining (EZNs) from the cerebrospinal fluid (CSF) or by characteristic results of biochemical analysis of CSF combined with a typical clinical manifestation...
May 22, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28544770/review-article-screening-genetics-risk-factors-and-treatment-of-neonatal-cataracts
#4
REVIEW
Jinyu Li, Chun-Hong Xia, Eddie Wang, Ke Yao, Xiaohua Gong
Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544683/comprehensive-genetic-study-of-cystic-fibrosis-in-slovak-patients-in-25-years-of-genetic-diagnostics
#5
Andrea Soltysova, Eva Tothova Tarova, Andrej Ficek, Marian Baldovic, Helena Polakova, Hana Kayserova, Ludevit Kadasi
INTRODUCTION: Cystic fibrosis (CF) has one of the longest histories in hereditary disease molecular diagnostics. However, identification of causative mutations in the CFTR gene is complicated by over two thousand currently identified mutations; with more still being discovered. Knowledge of mutation spectrum may improve effective routine diagnostics and is obligatory in mutation-specific treatment. OBJECTIVES: This study presents comprehensive mutation screening of the CFTR gene; with 275 unrelated, clinically confirmed and treated cystic fibrosis (CF) patients diagnosed in 25 years genetic testing in Slovakia...
May 20, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28544675/cyclotides-overview-and-biotechnological-applications
#6
REVIEW
Andrew Gould, Julio A Camarero
Cyclotides are globular microproteins with a unique head-to-tail cyclized backbone, stabilized by three disulfide bonds forming a cystine knot. This unique circular backbone topology and knotted arrangement of three disulfide bonds makes them exceptionally stable to chemical, thermal, and biological degradation compared to other peptides of similar size. In addition, cyclotides have been shown to be highly tolerant to sequence variability, aside from the conserved residues forming the cystine knot. Cyclotides can also cross cellular membranes and are able to modulate intracellular protein-protein interactions, both in vitro and in vivo...
May 24, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28544538/cornelia-de-lange-syndrome-to-diagnose-or-not-to-diagnose-in-utero
#7
REVIEW
Laura Avagliano, Gaetano Pietro Bulfamante, Valentina Massa
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544236/clinical-and-laboratory-phenotype-variability-in-type-2m-von-willebrand-disease
#8
Ashley L Doruelo, Sandra L Haberichter, Pamela A Christopherson, Lisa N Boggio, Sweta Gupta, Steven R Lentz, Amy D Shapiro, Robert R Montgomery, Veronica H Flood
BACKGROUND: Von Willebrand factor (VWF) is a multimeric coagulation factor that tethers platelets to injured subendothelium. Type 2M von Willebrand Disease (VWD) is characterized by a qualitative defect in VWF with preserved multimer distribution. OBJECTIVES: Through the Zimmerman Program for the Molecular and Clinical Biology for VWD, five VWF sequence variations were studied in subjects diagnosed with type 2M VWD. METHODS: Bleeding phenotype was assessed using the ISTH bleeding assessment tool...
May 20, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28544021/differential-expression-of-ewi-2-in-endometriosis-its-functional-role-and-underlying-molecular-mechanisms
#9
Tingting Zheng, Jing Yang
AIM: We aimed to investigate EWI-2 expression in endometrium tissues collected from women with endometriosis at mRNA and protein levels, to evaluate its potential as a biomarker for endometriosis and to study its functional role via possible regulation of the PI3K/Akt signaling pathway. METHODS: Endometrium tissues were collected from patients with endometriosis and healthy individuals. EWI-2 mRNA expression was evaluated using quantitative real-time PCR (qRT-PCR) while EWI-2 protein levels were determined by western blotting...
May 22, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28543356/pre-fibrotic-early-primary-myelofibrosis-vs-who-defined-essential-thrombocythemia-the-impact-of-minor-clinical-diagnostic-criteria-on-the-outcome-of-the-disease
#10
Georg Jeryczynski, Juergen Thiele, Bettina Gisslinger, Albert Wölfler, Martin Schalling, Andreas Gleiß, Sonja Burgstaller, Veronika Buxhofer-Ausch, Thamer Sliwa, Ernst Schlögl, Klaus Geissler, Maria-Theresa Krauth, Alexander Nader, Michael Vesely, Ingrid Simonitsch-Klupp, Leonhard Müllauer, Christine Beham-Schmid, Heinz Gisslinger
The 2016 revised WHO criteria for the diagnosis of pre-fibrotic/early primary myelofibrosis (pre-PMF) require at least one of the following four borderline expressed minor clinical criteria: anemia, leukocytosis, elevated lactate dehydrogenase and splenomegaly. In this study, we evaluated the relative frequency of these four criteria in a group of 170 pre-PMF patients and compared them to 225 ET cases. More than 91% of pre-PMF cases showed one or more of these features required for diagnosis, by contrast with only 48...
May 20, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28542435/development-and-evaluation-of-a-bioinformatics-approach-for-designing-molecular-assays-for-viral-detection
#11
Pierre H H Schneeberger, Joël F Pothier, Andreas Bühlmann, Brion Duffy, Christian Beuret, Jürg Utzinger, Jürg E Frey
BACKGROUND: Viruses belonging to the Flaviviridae and Bunyaviridae families show considerable genetic diversity. However, this diversity is not necessarily taken into account when developing diagnostic assays, which are often based on the pairwise alignment of a limited number of sequences. Our objective was to develop and evaluate a bioinformatics workflow addressing two recurrent issues of molecular assay design: (i) the high intraspecies genetic diversity in viruses and (ii) the potential for cross-reactivity with close relatives...
2017: PloS One
https://www.readbyqxmd.com/read/28542310/geographic-distribution-of-angiostrongylus-cantonensis-in-wild-rats-rattus-rattus-and-terrestrial-snails-in-florida-usa
#12
Heather D Stockdale Walden, John D Slapcinsky, Shannon Roff, Jorge Mendieta Calle, Zakia Diaz Goodwin, Jere Stern, Rachel Corlett, Julia Conway, Antoinette McIntosh
The parasitic nematode Angiostrongylus cantonensis is a major cause of eosinophilic meningitis in humans, and has been documented in other incidental hosts such as birds, horses, dogs and non-human primates. It is endemic in Hawaii, and there have been sporadic reports in the southern continental United States. This parasite uses rats as definitive hosts and snails as intermediate hosts. In this study, we collected potential definitive and intermediate hosts throughout Florida to ascertain the geographic distribution in the state: Rats, environmental rat fecal samples, and snails were collected from 18 counties throughout the state...
2017: PloS One
https://www.readbyqxmd.com/read/28542229/thermodynamic-framework-to-assess-low-abundance-dna-mutation-detection-by-hybridization
#13
Hanny Willems, An Jacobs, Wahyu Wijaya Hadiwikarta, Tom Venken, Dirk Valkenborg, Nadine Van Roy, Jo Vandesompele, Jef Hooyberghs
The knowledge of genomic DNA variations in patient samples has a high and increasing value for human diagnostics in its broadest sense. Although many methods and sensors to detect or quantify these variations are available or under development, the number of underlying physico-chemical detection principles is limited. One of these principles is the hybridization of sample target DNA versus nucleic acid probes. We introduce a novel thermodynamics approach and develop a framework to exploit the specific detection capabilities of nucleic acid hybridization, using generic principles applicable to any platform...
2017: PloS One
https://www.readbyqxmd.com/read/28542123/malaria-surveillance-united-states-2014
#14
Kimberly E Mace, Paul M Arguin
PROBLEM/CONDITION: Malaria in humans is caused by intraerythrocytic protozoa of the genus Plasmodium. These parasites are transmitted by the bite of an infective female Anopheles mosquito. The majority of malaria infections in the United States occur among persons who have traveled to regions with ongoing malaria transmission. However, malaria is occasionally acquired by persons who have not traveled out of the country through exposure to infected blood products, congenital transmission, laboratory exposure, or local mosquitoborne transmission...
May 26, 2017: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
https://www.readbyqxmd.com/read/28541661/a-complementary-isothermal-amplification-method-to-the-us-epa-qpcr-approach-for-the-detection-of-enterococci-in-environmental-waters
#15
Claudia Kolm, Roland Martzy, Kurt Brunner, Robert L Mach, Rudolf Krska, Georg Heinze, Regina Sommer, Georg H Reischer, Andreas H Farnleitner
We report a novel molecular assay, based on helicase-dependent amplification (HDA), for the detection of enterococci as markers for fecal pollution in water. This isothermal assay targets the same Enterococcus 23S rRNA gene region as the existing quantitative polymerase chain reaction (qPCR) assays of the US Environmental Protection Agency Methods 1611 and 1609 but can be entirely performed on a simple heating block. The developed Enterococcus HDA assay successfully discriminated 15 enterococcal from 15 non-enterococcal reference strains and reliably detected 48 environmental isolates of enterococci...
May 25, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28541262/joint-espghan-naspghan-guidelines-for-the-management-of-helicobacter-pylori-in-children-and-adolescents-update-2016
#16
Nicola L Jones, Sibylle Koletzko, Karen Goodman, Patrick Bontems, Samy Cadranel, Thomas Casswall, Steve Czinn, Benjamin D Gold, Jeannette Guarner, Yoram Elitsur, Matjaž Homan, Nicolas Kalach, Michal Kori, Armando Madrazo, Francis Megraud, Alexandra Papadopoulou, Marion Rowland
BACKGROUND: Because of the changing epidemiology of Helicobacter pylori infection and low efficacy of currently recommended therapies, an update of the European Society for Paediatric Gastroenterology Hepatology and Nutrition/North American Society for Pediatric Gastroenterology, Hepatology and Nutrition recommendations for the diagnosis and management of H pylori infection in children and adolescents is required. METHODS: A systematic review of the literature (time period: 2009-2014) was performed...
June 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28540973/pancreatic-neuroendocrine-neoplasms-management-guidelines-recommended-by-the-polish-network-of-neuroendocrine-tumours
#17
Beata Kos-Kudła, Violetta Rosiek, Małgorzata Borowska, Agata Bałdys-Waligórska, Tomasz Bednarczuk, Jolanta Blicharz-Dorniak, Marek Bolanowski, Agnieszka Boratyn-Nowicka, Andrzej Cichocki, Jarosław B Ćwikła, Massimo Falconi, Wanda Foltyn, Foltyn Handkiewicz-Junak, Alicja Hubalewska-Dydejczyk, Barbara Jarząb, Michał Jarząb, Roman Junik, Dariusz Kajdaniuk, Grzegorz Kamiński, Agnieszka Kolasińska-Ćwikła, Aldona Kowalska, Robert Król, Leszek Królicki, Jolanta Kunikowska, Katarzyna Kuśnierz, Paweł Lampe, Dariusz Lange, Anna Lewczuk-Myślicka, Andrzej Lewiński, Michał Lipiński, Magdalena Londzin-Olesik, Bogdan Marek, Anna Nasierowska-Guttmejer, Ewa Nowakowska-Duława, Joanna Pilch-Kowalczyk, Marek Ruchała, Lucyna Siemińska, Anna Sowa-Staszczak, Teresa Starzyńska, Katarzyna Steinhof-Radwańska, Janusz Strzelczyk, Krzysztof Sworczak, Anhelli Syrenicz, Andrzej Szawłowski, Marek Szczepkowski, Ewa Wachuła, Wojciech Zajęcki, Anna Zemczak, Wojciech Zgliczyński
This article presents updated diagnostic and therapeutic guidelines for the management of pancreatic neuroendocrine tumours (PNEN), proposed by the Polish Network of Neuroendocrine Tumours. The guidelines contain new data received in the years 2013-2016, which confirm previous recommendations, and have led to modification of previous guidelines or have resulted in the formulation of new guidelines. Biochemical and imaging (anatomical and functional) tests are of great importance in diagnostics, as well as histopathological diagnosis to determine the management of PNEN patients, but they must be confirmed by an immunohistochemical examination...
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28540403/analysis-of-primary-mirna-3662-and-its-mature-form-may-improve-detection-of-the-lung-adenocarcinoma
#18
Tomasz Powrózek, Radosław Mlak, Marcin Dziedzic, Teresa Małecka-Massalska, Dariusz Sagan
INTRODUCTION: Because of the alarming data concerning lung cancer morbidity and mortality, investigation of new molecular markers allowing early cancer detection is desirable. In the present study, we investigated the potential role of miRNA-3662 precursor (pri-miRNA-3662) as potential novel diagnostic marker of lung adenocarcinoma (AC). MATERIALS AND METHODS: Expression of miRNA-3662 and pri-miRNA-3662 was analyzed in 56 fresh-frozen tissues of non-small cell lung cancer and corresponding adjacent non-cancerous tissues using (NCT) qRT-PCR...
May 24, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28540321/novel-scn1a-and-gabra1-gene-mutations-with-diverse-phenotypic-features-and-the-question-on-the-existence-of-a-broader-spectrum-of-dravet-syndrome
#19
Maria P Gontika, Christopher Konialis, Constantine Pangalos, Antigone Papavasiliou
In the light of modern molecular technologies, the understanding of the complexity of the numerous genotype-phenotype correlations regarding Dravet syndrome is mandatory. Motivated by 2 patients, whose whole-exome sequencing revealed novel mutations that exemplify the phenotypic and genetic heterogeneities associated with typical and atypical Dravet syndrome presentations, the authors discuss the existence of a broader spectrum of Dravet syndrome. The first patient is a 4-year-old boy with fairly typical Dravet syndrome and a novel sodium channel α1 subunit gene mutation of high-predicted combined pathogenicity likelihood...
January 2017: Child Neurol Open
https://www.readbyqxmd.com/read/28540009/molecular-imaging-of-retinal-endothelial-injury-in-diabetic-animals
#20
Sonja Frimmel, Souska Zandi, Dawei Sun, Zhongyu Zhang, Alexander Schering, Mark I Melhorn, Shintaro Nakao, Ali Hafezi-Moghadam
PURPOSE: Diabetic retinopathy is a leading cause of vision loss. There is a great need for early diagnosis prior to the occurrence of irreversible structural damages. Expression of endothelial adhesion molecules is observed before the onset of diabetic vascular damage; however, to date, these molecules cannot be visualized in vivo. METHODS: To quantify the expression of endothelial surface molecules, we generated imaging probes that bind to ICAM-1. The α-ICAM-1 probes were characterized via flow cytometry under microfluidic conditions...
April 2017: Journal of Ophthalmic & Vision Research
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