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Molecular Diagnosis & Therapy

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https://www.readbyqxmd.com/read/29651791/a-discrete-event-simulation-model-to-assess-the-economic-value-of-a-hypothetical-pharmacogenomics-test-for-statin-induced-myopathy-in-patients-initiating-a-statin-in-secondary-cardiovascular-prevention
#1
Dominic Mitchell, Jason R Guertin, Anick Dubois, Marie-Pierre Dubé, Jean-Claude Tardif, Ange Christelle Iliza, Fiorella Fanton-Aita, Alexis Matteau, Jacques LeLorier
BACKGROUND: Statin (HMG-CoA reductase inhibitor) therapy is the mainstay dyslipidemia treatment and reduces the risk of a cardiovascular (CV) event (CVE) by up to 35%. However, adherence to statin therapy is poor. One reason patients discontinue statin therapy is musculoskeletal pain and the associated risk of rhabdomyolysis. Research is ongoing to develop a pharmacogenomics (PGx) test for statin-induced myopathy as an alternative to the current diagnosis method, which relies on creatine kinase levels...
April 12, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29651790/novel-insights-for-inhibiting-mutant-heterodimer-idh1-wt-r132h-in-cancer-an-in-silico-approach
#2
Ezequiel Iván Juritz, Juan Pablo Bascur, Daniel Eduardo Almonacid, Fernando Danilo González-Nilo
BACKGROUND: Isocitrate dehydrogenase 1 (IDH1) is a dimeric enzyme responsible for supplying the cell's nicotinamide adenine dinucleotide phosphate (NADPH) reserves via dehydrogenation of isocitrate (ICT) and reduction of NADP+. Mutations in position R132 trigger cancer by enabling IDH1 to produce D-2-hydroxyglutarate (2-HG) and reduce inhibition by ICT. Mutant IDH1 can be found as a homodimer or a heterodimer. OBJECTIVE: We propose a novel strategy to inhibit IDH1 R132 variants as a means not to decrease the concentration of 2-HG but to provoke a cytotoxic effect, as the cell malignancy at this point no longer depends on 2-HG...
April 12, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29619772/molecular-med-tri-con-11-16-february-2018-san-francisco-usa
#3
Alison Fitches
No abstract text is available yet for this article.
April 4, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29619771/a-study-of-triplet-primed-pcr-for-identification-of-cag-repeat-expansion-in-the-htt-gene-in-a-cohort-of-503-indian-cases-with-huntington-s-disease-symptoms
#4
Pratiksha Chheda, Milind Chanekar, Yogita Salunkhe, Tavisha Dama, Anurita Pais, Shailesh Pande, Rajesh Bendre, Nilesh Shah
BACKGROUND: Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder with an average age at onset of 40 years. It is a polyglutamine (polyQ) disorder that is caused by an increase in the number of CAG repeats in the huntingtin (HTT) gene. Genetic tests that accurately determine the number of CAG repeats are performed for confirmation of diagnosis, predictive testing of persons at genetic risk for inheriting HD, and prenatal testing. The aim of our study was to evaluate efficacy of triplet-primed polymerase chain reaction (TP-PCR) for routine diagnosis of HD in suspected cases from India...
April 4, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29589256/use-of-the-mtrr-gene-for-rapid-molecular-diagnosis-of-neisseria-gonorrhoeae-and-identification-of-the-reduction-of-susceptibility-to-antibiotics-in-endocervical-swabs
#5
Marcos R Escobedo-Guerra, Mitzuko Katoku-Herrera, Marcela Lopez-Hurtado, Rodrigo Gutierrez-Trujillo, Fernando M Guerra-Infante
BACKGROUND: Neisseria gonorrhoeae is one of the main etiological agents of sexually transmitted diseases. The asymptomatic course of the infection and its resistance to antibiotics can lead to pelvic inflammatory disease and infertility. OBJECTIVES: We developed a polymerase chain reaction (PCR) test using the methyltetrahydrofolate homocysteine methyltransferase reductase (mtrR) gene to identify N. gonorrhoeae and detect reduced susceptibility to antibiotics. MATERIAL AND METHODS: We analysed 250 samples of endocervical exudate from infertile women with a negative diagnosis of N...
March 27, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29564734/drug-induced-skin-adverse-reactions-the-role-of-pharmacogenomics-in-their-prevention
#6
REVIEW
Kalliopi Gerogianni, Aspasia Tsezou, Konstantinos Dimas
Adverse drug reactions (ADRs) affect many patients and remain a major public health problem, as they are a common cause of morbidity and mortality. It is estimated that ADRs are responsible for about 6% of hospital admissions and about 9% of hospitalization costs. Skin is the organ that is most frequently involved in ADRs. Drug-induced skin injuries vary from mild maculopapular eruptions (MPE) to severe cutaneous adverse reactions (SCARs) that are potentially life threatening. Genetic factors have been suggested to contribute to these SCARs, and most significant genetic associations have been identified in the major histocompatibility complex (MHC) genes...
March 21, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29560608/programmed-cell-death-from-a-cancer-perspective-an-overview
#7
REVIEW
Abhay P Mishra, Bahare Salehi, Mehdi Sharifi-Rad, Raffaele Pezzani, Farzad Kobarfard, Javad Sharifi-Rad, Manisha Nigam
Programmed cell death (PCD) is probably the most widely discussed subject among the topics of cancer therapy. Over the last 2 decades an astonishing boost in our perception of cell death has been seen, and its role in cancer and cancer therapy has been thoroughly investigated. A number of discoveries have clarified the molecular mechanism of PCD, thus expounding the link between PCD and therapeutic tools. Even though PCD is assumed to play a major role in anticancer therapy, the clinical relevance of its induction remains uncertain...
March 20, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29556924/decreased-expression-of-circulating-mir-20a-5p-in-south-african-women-with-gestational-diabetes-mellitus
#8
Carmen Pheiffer, Stephanie Dias, Paul Rheeder, Sumaiya Adam
BACKGROUND AND OBJECTIVE: In recent years circulating microRNAs (miRNAs) have attracted interest as biomarkers of metabolic disease. MiRNA expression varies across population groups; thus, the aim of this study was to investigate whether serum miRNAs that have previously been shown to be associated with gestational diabetes mellitus (GDM) in other populations, are similarly regulated in South African women with GDM. METHODS: In this case-control study, women (n = 81) were selected from a prospective cohort study in which pregnant women were recruited at their first clinic visit and requested to return for fasting blood glucose concentration measurements and serum collection (median 27 weeks; range 13-31 weeks)...
March 19, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29549658/multiplex-pcr-from-menstrual-blood-a-non-invasive-cost-effective-approach-to-reduce-diagnostic-dilemma-for-genital-tuberculosis
#9
Suman K Paine, Analabha Basu, Rajib Gon Choudhury, Basudev Bhattacharya, Sidhartha Chatterjee, Chandra Bhattacharya
AIM: Genital tuberculosis (GTB) is a potent contributor to irreversible damage to the reproductive system and infertility in females. As no gold standard diagnostic tool is yet available, clinical suspicion and relatively insensitive approaches such as histopathology, laparoscopy and hysterosalpingogram are currently critical determinants in the diagnosis of GTB. Although a polymerase chain reaction (PCR)-based assay using endometrial tissue seems promising, sampling does require an invasive procedure...
March 16, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29549657/a-novel-missense-mutation-p-gly162glu-of-the-gene-myl2-involved-in-hypertrophic-cardiomyopathy-a-pedigree-analysis-of-a-proband
#10
Pauline Renaudin, Alexandre Janin, Gilles Millat, Philippe Chevalier
BACKGROUND: Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy, is mostly caused by mutations in sarcomeric genes. Identifying the genetic cause is important for management, therapy, and genetic counseling. METHODS: A molecular diagnosis was performed on a 51-year-old woman diagnosed with HCM using a next-generation sequencing workflow based on a panel designed for sequencing the most prevalent cardiomyopathy-causing genes...
March 16, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29470764/levels-of-circulating-mrna-for-the-tenascin-x-tnxb-gene-in-maternal-plasma-at-the-second-trimester-in-pregnancies-with-isolated-congenital-ventricular-septal-defects
#11
Danila Morano, Silvia Berto, Cristina Lapucci, Lara Walczer Baldinazzo, Daniela Prandstraller, Antonio Farina
OBJECTIVE: Maternal plasma is a source of circulating placental nucleic acids. In this study, we validated previous observations on abnormal levels of circulating messenger RNA (mRNA) for the tenascin-X gene in pregnancies with ventricular septal defects in the second trimester of pregnancy. METHODS: This was a bicentric retrospective study conducted from March 2016 to July 2017. Real-time polymerase chain reaction was used to identify abnormally expressed genes, comparing ten women carrying a euploid fetus with ventricular septal defects to 30 controls at 19-24 weeks of gestation...
February 22, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29470763/a-rapid-on-site-assay-for-the-detection-of-influenza-a-by-capillary-convective-pcr
#12
Zhihao Zhuo, Jin Wang, Wendi Chen, Xiaosong Su, Mengyuan Chen, Mujin Fang, Shuizhen He, Shiyin Zhang, Shengxiang Ge, Jun Zhang, Ningshao Xia
BACKGROUND: Morbidity and mortality from influenza A (Flu A) have increased in recent years. Timely diagnosis and management are critical for disease control. Therefore, the development of a rapid, accurate, and portable analytical method for on-site analysis is imperative. OBJECTIVES: The aim of this work was to develop a rapid, on-site, automated assay for the detection of Flu A and to evaluate the assay. METHODS: A handheld instrument (TD-01) based on capillary convective polymerase chain reaction (PCR) was developed for rapid on-site detection of Flu A...
February 22, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29450859/congenital-adrenal-hyperplasia-cah-due-to-21-hydroxylase-deficiency-a-comprehensive-focus-on-233-pathogenic-variants-of-cyp21a2-gene
#13
REVIEW
Paola Concolino, Alessandra Costella
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by complete or partial defects in one of the several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 95-99% of all cases of CAH are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. Currently, CYP21A2 genotyping is considered a valuable complement to biochemical investigations in the diagnosis of 21-hydroxylase deficiency...
February 15, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29427124/neuroendocrine-pulmonary-tumors-of-low-intermediate-and-high-grade-anatomopathological-diagnosis-prognostic-and-predictive-factors
#14
REVIEW
José Manuel Cameselle-Teijeiro, José Antonio Mato Mato, Ovidio Fernández Calvo, Jesús García Mata
Neuroendocrine tumors (NETs) belong to a heterogeneous family of rare tumors with very broad and complex clinical behavior. Due to their heterogeneity, the lack of specific symptoms and the absence of sensitive methods for early detection, patients are usually diagnosed when the disease is in an advanced state for which curative treatments are scarce. In most cases, these few treatments try to prolong the survival of patients, maintaining the quality of life. The identification of biomarkers could help to improve early diagnosis and to choose the most suitable therapeutic strategy...
February 9, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29411301/emerging-biomarkers-in-cutaneous-melanoma
#15
REVIEW
Anna Eisenstein, Estela Chen Gonzalez, Rekha Raghunathan, Xixi Xu, Muzhou Wu, Emily O McLean, Jean McGee, Byungwoo Ryu, Rhoda M Alani
Earlier identification of aggressive melanoma remains a goal in the field of melanoma research. With new targeted and immune therapies that have revolutionized the care of patients with melanoma, the ability to predict progression and monitor or predict response to therapy has become the new focus of research into biomarkers in melanoma. In this review, promising biomarkers are highlighted. These biomarkers have been used to diagnose melanoma as well as predict progression to advanced disease and response to therapy...
February 6, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29388067/oncogenic-and-tumor-suppressive-roles-of-micrornas-with-special-reference-to-apoptosis-molecular-mechanisms-and-therapeutic-potential
#16
REVIEW
Dharambir Kashyap, Hardeep Singh Tuli, Vivek Kumar Garg, Neelam Goel, Anupam Bishayee
MicroRNAs (miRNAs) are the non-coding class of minute RNA molecules that negatively control post-transcriptional regulation of various functional genes. These miRNAs are transcribed from the loci present in the introns of functional or protein-coding genes, exons of non-coding genes, or even in the 3'-untranslated region (3'-UTR). They have potential to modulate the stability or translational efficiency of a variety of target RNA [messenger RNA (mRNA)]. The regulatory function of miRNAs has been elucidated in several pathological conditions, including neurological (Alzheimer's disease and Parkinson's disease) and cardiovascular conditions, along with cancer...
February 1, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29209992/cost-effectiveness-of-karyotyping-chromosomal-microarray-analysis-and-targeted-next-generation-sequencing-of-patients-with-unexplained-global-developmental-delay-or-intellectual-disability
#17
Yonghong Li, Lori A Anderson, Edward I Ginns, James J Devlin
BACKGROUND: Genetic diagnosis of unexplained global developmental delay and intellectual disability (GDD/ID) often ends the diagnostic odyssey and can lead to changes in clinical management. OBJECTIVE: The objective of this study was to investigate the cost effectiveness of testing scenarios involving several methods used to diagnose GDD/ID: karyotyping, chromosomal microarray analysis (CMA), and targeted next-generation sequencing (NGS). METHODS: We used decision-tree models to estimate the number of genetic diagnoses, the cost from a payers' perspective in the USA, and the incremental cost per additional genetic diagnosis...
February 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29188551/molecular-characterization-of-fmr1-gene-by-tp-pcr-in-women-of-reproductive-age-and-women-with-premature-ovarian-insufficiency
#18
Deepika Delsa Dean, Sarita Agarwal, Deepa Kapoor, Kuldeep Singh, Chandra Vati
BACKGROUND: Fragile X syndrome is caused by CGG repeat expansion mutation in the FMR1 gene. Normal alleles have 5-44 CGG repeats with AGG interruptions. The expanded gray zone (GZ) (45-54 repeats) and premutation (PM) (55-200 repeats) alleles are often uninterrupted and are unstably inherited in subsequent generations. The prevalence of PM and GZ carriers is high in the female population, at 1/66 and 1/113, respectively, and PM is associated with fertility problems in 20% of cases. OBJECTIVE: Our objective was to molecularly characterize CGG repeats and AGG interruption sequences in the FMR1 gene in women of reproductive age and in women with premature ovarian insufficiency (POI)...
February 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29168075/pharmacogenetics-of-methadone-response
#19
REVIEW
Francina Fonseca, Marta Torrens
The efficacy of methadone maintenance treatment (MMT) in opioid use disorder is well established but responses vary. The influence of methadone pharmacodynamics and pharmacokinetics on dose requirements and program outcomes remains controversial despite the increasing number of studies evaluating genetic influences on response to methadone treatment. Furthermore, patients require different doses (usually between 60 and 100 mg/day), and there are no clear data on a plasma concentration associated with treatment success...
February 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29119407/pd-l1-testing-in-guiding-patient-selection-for-pd-1-pd-l1-inhibitor-therapy-in-lung-cancer
#20
Katerina Ancevski Hunter, Mark A Socinski, Liza C Villaruz
Immunotherapy with programmed death 1 (PD-1)- and programmed death-ligand 1 (PD-L1)-targeted monoclonal antibodies has dramatically changed the therapeutic and prognostic landscape for several types of malignancy. PD-1 and PD-L1 are immune checkpoint proteins whose binding ultimately result in T cell exhaustion and self-tolerance. Blocking this pathway 'releases the brakes' on the immune system and allows for attack of tumor cells that express PD-L1. The clinical trials that led to the US Food and Drug Administration (FDA) approval of these agents used different immunohistochemical (IHC) platforms with various PD-L1 antibodies to assess for PD-L1 expression on either tumor cells or tumor-infiltrating immune cells...
February 2018: Molecular Diagnosis & Therapy
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