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Molecular diagnostics

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https://www.readbyqxmd.com/read/28922402/new-insights-into-the-metastatic-behavior-after-breast-cancer-surgery-according-to-well-established-clinicopathological-variables-and-molecular-subtypes
#1
Oreste Claudio Buonomo, Emanuele Caredda, Ilaria Portarena, Gianluca Vanni, Augusto Orlandi, Claudia Bagni, Giuseppe Petrella, Leonardo Palombi, Paolo Orsaria
Despite advances in treatment, up to 30% of patients with early breast cancer (BC) experience distant disease relapse. However, a comprehensive understanding of tumor spread and site-specific recurrence patterns remains lacking. This retrospective case-control study included 103 consecutive patients with metastatic BC admitted to our institution (2000-2013). Cases were matched according to age, tumor biology, and clinicopathological features to 221 patients with non-metastatic BC (control group). The median follow-up period among the 324 eligible patients was 7...
2017: PloS One
https://www.readbyqxmd.com/read/28922238/primary-central-nervous-system-lymphoma-time-for-diagnostic-biomarkers-and-biotherapies
#2
Louis Royer-Perron, Khê Hoang-Xuan, Agusti Alentorn
PURPOSE OF REVIEW: Primary central nervous system lymphoma (PCNSL) is a rare cancer with a somber prognosis in older patients, which it affects predominantly. Only in recent years have molecular alterations characterizing PCNSL been thoroughly described. This opens possibilities for the use of targeted therapies. Developments in imaging and biomarkers have also great potential to help clinicians faced with diagnostic and prognostic uncertainties. RECENT FINDINGS: Several biomarkers for PCNSL, such as different microRNAs, which could be tested in cerebrospinal fluid and vitreous fluid, and IL-10, which has been shown to have excellent sensitivity and specificity in the cerebrospinal fluid, have emerged in the last years...
September 15, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28922105/hereditary-multiple-exostoses-clinical-molecular-and-radiologic-survey-in-9-families
#3
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2-10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54...
2017: Prague Medical Report
https://www.readbyqxmd.com/read/28922052/applications-of-emerging-transmission-electron-microscopy-technology-in-pcd-research-and-diagnosis
#4
Amelia Shoemark
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition characterized by dysfunction of motile cilia. Patients suffer from chronic infection and inflammation of the upper and lower respiratory tract. Diagnosis of PCD is confirmed by identification of a hallmark defect of ciliary ultrastructure or by identification of biallelic pathogenic mutations in a known PCD gene. Since the first description of PCD in 1976, assessment of ciliary ultrastructure by transmission electron microscopy (TEM) has been central to diagnosis and research...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28921714/fetal-microchimerism-in-human-brain-tumors
#5
Lauren Broestl, Joshua B Rubin, Sonika Dahiya
Sex differences in cancer incidence and survival, including central nervous system tumors, are well documented. Multiple mechanisms contribute to sex differences in health and disease. Recently, the presence of fetal-in-maternal microchimeric cells has been shown to have prognostic significance in breast and colorectal cancers. The frequency and potential role of these cells has not been investigated in brain tumors. We therefore selected two common primary adult brain tumors for this purpose: meningioma, which is sex hormone responsive and has a higher incidence in women, and glioblastoma, which is sex hormone independent and occurs more commonly in men...
September 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28921583/associations-of-alcohol-intake-smoking-physical-activity-and-obesity-with-survival-following-colorectal-cancer-diagnosis-by-stage-anatomic-site-and-tumor-molecular-subtype
#6
Harindra Jayasekara, Dallas R English, Andrew Haydon, Allison M Hodge, Brigid M Lynch, Christophe Rosty, Elizabeth J Williamson, Mark Clendenning, Melissa C Southey, Mark A Jenkins, Robin Room, John L Hopper, Roger L Milne, Daniel D Buchanan, Graham G Giles, Robert J MacInnis
The influence of lifestyle factors on survival following a diagnosis of colorectal cancer (CRC) is not well established. We examined associations between lifestyle factors measured before diagnosis and CRC survival. The Melbourne Collaborative Cohort Study collected data on alcohol intake, cigarette smoking and physical activity, and body measurements at baseline (1990-94) and wave 2 (2003-07). We included participants diagnosed to 31 August 2015 with incident stage I-III CRC within 10-years post exposure assessment...
September 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28921387/analysis-of-24-genes-reveals-a-monogenic-cause-in-11-1-of-cases-with-steroid-resistant-nephrotic-syndrome-at-a-single-center
#7
Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle Baum, Ghaleb Daouk, Michael A Ferguson, Nancy Rodig, Michael J G Somers, Deborah R Stein, Asaf Vivante, Jillian K Warejko, Eugen Widmeier, Friedhelm Hildebrandt
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of end-stage renal disease (ESRD) among patients manifesting at under 25 years of age. We performed mutation analysis using a high-throughput PCR-based microfluidic technology in 24 single-gene causes of SRNS in a cohort of 72 families, who presented with SRNS before the age of 25 years. METHODS: Within an 18-month interval, we obtained DNA samples, pedigree information, and clinical information from 77 consecutive children with SRNS from 72 different families seen at Boston Children's Hospital (BCH)...
September 18, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28920058/editorial-current-challenges-in-cardiovascular-molecular-diagnostics
#8
EDITORIAL
Valeria Novelli, Matteo Vatta
No abstract text is available yet for this article.
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28919777/synaptotagmin-7-is-overexpressed-in-hepatocellular-carcinoma-and-regulates-hepatocellular-carcinoma-cell-proliferation-via-chk1-p53-signaling
#9
Hao Jin, Geliang Xu, Qiang Zhang, Qing Pang, Meifang Fang
BACKGROUND: Synaptotagmin-7 (Syt-7) is a member of the synaptotagmin (Syt) family, which plays an important role in many physiological and pathological processes. However, to the best of our knowledge, there is no study describing its function in tumors, particularly in hepatocellular carcinoma (HCC). Therefore, in this study, we examined the role of Syt-7 in HCC and attempted to elucidate its underlying mechanism. MATERIALS AND METHODS: We examined the expression levels of Syt-7 in HCC cell lines and normal hepatocytes by real-time quantitative polymerase chain reaction analysis...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28919697/16s-ribosomal-rna-sequencing-and-molecular-serotyping-of-avibacterium-paragallinarum-isolated-from-indian-field-conditions
#10
Vihang Vithalrao Patil, Debendranath Mishra, Dilip Vithalrao Mane
AIM: This study was aimed at identifying Indian field isolates of Avibacterium paragallinarum on both molecular as well as serological levels that cause infectious coryza in chickens. MATERIALS AND METHODS: Species-specific polymerase chain reaction (HPG-2 PCR), and 16S ribosomal RNA (rRNA) sequencing were employed for molecular identification. Whereas, multiplex PCR technique was used for serological identification of Indian field isolates of A. paragallinarum...
August 2017: Veterinary World
https://www.readbyqxmd.com/read/28919691/molecular-etiopathology-of-naturally-occurring-reproductive-diseases-in-female-goats
#11
V Beena, R V S Pawaiya, K Gururaj, D D Singh, A K Mishra, N K Gangwar, V K Gupta, R Singh, A K Sharma, M Karikalan, Ashok Kumar
AIM: The aim of the present study was to investigate the molecular etiopathology of occurrence of reproductive diseases in female goats. Reproductive diseases in goats account for major economic losses to goat farmers in terms of valuable loss of offspring and animal productivity. MATERIALS AND METHODS: A total of 660 female genitalia were examined for pathological conditions (macroscopic and microscopic lesions). The etiopathological study was carried out for the presence of pathogenic organisms such as Brucella, Chlamydia, and Campylobacter in the uterus and ovary...
August 2017: Veterinary World
https://www.readbyqxmd.com/read/28919618/molecular-detection-and-differentiation-of-mycobacterium-tuberculosis-complex-and-non-tuberculous-mycobacterium-in-the-clinical-specimens-by-real-time-pcr
#12
M M Rahman, M R Rahim, A Khaled, T A Nasir, F Nasrin, M A Hasan
Mycobacteria are subdivided into three groups: the Mycobacterium tuberculosis complex, the non-tuberculous mycobacteria called NTM or MOTT (Mycobacteria Other Than Tuberculosis) and Mycobacterium leprae. Over the past few decades, the incidence of infections caused by NTM has increased world wide. The differentiation of Mycobacterium tuberculosis complex from NTM is of primary importance for infection control and choice of antimicrobial therapy. However, there is so far no report in Bangladesh about the detection of NTM and hence differentiation of MTB and NTM...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919334/failure-of-molecular-diagnostics-of-a-keratitis-inducing-acanthamoeba-strain
#13
Patrick L Scheid, Carsten Balczun
An otherwise healthy 49-year-old female patient presented at the local hospital with severe keratitis in both inflamed eyes. She was a contact lens wearer and had no history of a corneal trauma. In our laboratory for medical parasitology Acanthamoebae were detected microscopically from the cornea scraping and from the fluid of the contact lens storage case after xenical culture and showed the typical cyst morphology of Acanthamoebae group II. The diagnosis of "Acanthamoeba keratitis" was established and successful therapy was provided...
September 14, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28919271/-autoimmune-hepatitis-immunological-diagnosis
#14
Imane Brahim, Ikram Brahim, Raja Hazime, Brahim Admou
Autoimmune hepatopathies (AIHT) including autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC) and autoimmune cholangitis (AIC), represent an impressive entities in clinical practice. Their pathogenesis is not perfectly elucidated. Several factors are involved in the initiation of hepatic autoimmune and inflammatory phenomena such as genetic predisposition, molecular mimicry and/or abnormalities of T-regulatory lymphocytes. AIHT have a wide spectrum of presentation, ranging from asymptomatic forms to severe acute liver failure...
September 14, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28919129/dissecting-the-catatonia-phenotype-in-psychotic-and-mood-disorders-on-the-basis-of-familial-genetic-factors
#15
Victor Peralta, Lourdes Fañanás, Migdyrai Martín-Reyes, Manuel J Cuesta
BACKGROUND: This study examines the familial aggregation (familiality) of different phenotypic definitions of catatonia in a sample of multiplex families with psychotic and mood disorders. METHODS: Participants were probands with a lifetime diagnosis of a DSM-IV functional psychotic disorder, their parents and at least one first-degree relative with a psychotic disorder. The study sample included 441 families comprising 2703 subjects, of whom 1094 were affected and 1609 unaffected...
September 14, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28918558/colorimetric-detection-of-unamplified-rift-valley-fever-virus-genetic-material-using-unmodified-gold-nanoparticles
#16
Mostafa R Zaher, Hanaa A Ahmed, Kareem E Z Hamada, Reham H Tammam
Rift Valley fever virus (RVFV) is considered an enzootic virus in Africa. RVFV has caused several outbreaks in Egypt, sub-Saharan Africa and the Arabian Peninsula and is responsible for high mortality in ruminants and haemorrhagic fever in severe human cases. Although there are several molecular and serological diagnostic techniques used to detect this arthropod-borne virus with high sensitivity and efficiency, there is a need for a fast and reliable field screening test for rapid outbreak recording and containment...
September 16, 2017: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/28918481/fibrinolysis-in-trauma-a-review
#17
REVIEW
M J Madurska, K A Sachse, J O Jansen, T E Rasmussen, J J Morrison
Fibrinolytic dysregulation is an important mechanism in traumatic coagulopathy. It is an incompletely understood process that consists of a spectrum ranging from excessive breakdown (hyperfibrinolysis) and the shutdown of fibrinolysis. Both hyperfibrinolysis and shutdown are associated with excess mortality and post-traumatic organ failure. The pathophysiology appears to relate to endothelial injury and hypoperfusion, with several molecular markers identified in playing a role. Although there are no universally accepted diagnostic tests, viscoelastic studies appear to offer the greatest potential for timely identification of patients presenting with fibrinolytic dysregulation...
September 16, 2017: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
https://www.readbyqxmd.com/read/28918329/an-integrated-strategy-for-rapid-discovery-and-identification-of-the-sequential-piperine-metabolites-in-rats-using-ultra-high-performance-liquid-chromatography-high-resolution-mass-spectrometery
#18
Zhanpeng Shang, Wei Cai, Yanfeng Cao, Fei Wang, Zhibin Wang, Jianqiu Lu, Jiayu Zhang
Piperine, one of the major bioactive constituents isolated from natural flavorings and medicinal-culinary herbs, possesses various biological activities. In the present study, an integrated strategy based on ultra high-performance liquid chromatography/high resolution mass spectrometry was established to reveal piperine metabolism in rats. First of all, post-acquisition data-mining methods, including high resolution extracted ion chromatograms (HREICs) and multiple mass defect filtering (MMDF), were used to screen piperine metabolite candidates in a full-scan HRMS(1) level...
September 9, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#19
Ha Kyung Shin, George Grahame, Shawn E McCandless, Douglas S Kerr, Jirair K Bedoyan
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency. However, the diagnostic efficacy of such testing approaches for individuals affected with PDC deficiency has not been systematically investigated in this disorder...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28917771/accurate-and-sensitive-fluorescence-detection-of-dna-based-on-g-quadruplex-hairpin-dna
#20
Yi Liu, Rong Liao, Huan Wang, Hang Gong, Chunyan Chen, Xiaoming Chen, Changqun Cai
A facile and cost-effective fluorescence biosensor is constructed for the accurate and sensitive determination of DNA. The G-quadruplex-forming sequence in hairpin DNA sequence (H1) is originally locked. When target DNA is present, the hairpin structure of H1 can be unfolded and part of H1 hybridized with the target DNA to form a double-stranded DNA and a G-quadruplex. The hairpin DNA sequence (H2) hybridizes with the unfolded H1 and displaces the target DNA. Finally, the displaced target DNA again hybridizes with the H1 and initiates cycle amplification...
January 1, 2018: Talanta
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