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Molecular Diagnosis & Therapy

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https://www.readbyqxmd.com/read/29236230/gene-patents-in-canada-is-there-a-new-legal-landscape
#1
Katherine L Bonter, Carmela De Luca, Christi J Guerrini
In 2016, the Children's Hospital of Eastern Ontario (CHEO) announced the settlement of its patent lawsuit against US-based Transgenomic, Inc. At issue in the case was CHEO's ability to test for gene mutations associated with long QT syndrome (LQTS) that are described in Transgenomic's patents. CHEO challenged the patents as invalid, and Transgenomic ultimately agreed to license them on a royalty-free basis to CHEO and other healthcare institutions for LQTS testing and research. While widely celebrated in the media, the ethical rhetoric surrounding the settlement has at times obscured the practical and legal context in which it was made and will operate...
December 13, 2017: 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
#2
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...
December 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29209991/current-emerging-and-future-applications-of-digital-pcr-in-non-invasive-prenatal-diagnosis
#3
Juliette Nectoux
Digital PCR (dPCR) approaches have been developed for the detection of nucleic acids of low abundance, such as cell-free DNA, and represent an attractive and sensitive alternative to conventional methods, particularly in the field of non-invasive prenatal diagnosis (NIPD). In this review, we present the principle of dPCR and its applications in the field of prenatal diagnosis from current and emerging uses, such as fetal gender determination, rhesus blood group D antigen genotyping, or monogenic disorders prenatal testing, to future applications, such as the diagnosis and monitoring of pregnancy-related disorders...
December 5, 2017: 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
#4
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)...
November 29, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29168075/pharmacogenetics-of-methadone-response
#5
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...
November 22, 2017: 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
#6
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...
November 8, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29094287/targeting-ampk-mtor-and-%C3%AE-catenin-by-combined-metformin-and-aspirin-therapy-in-hcc-an-appraisal-in-egyptian-hcc-patients
#7
Doaa Ali Abdelmonsif, Ahmed S Sultan, Wessam F El-Hadidy, Dina Mohamed Abdallah
BACKGROUND: Hepatocellular carcinoma (HCC) is an expanding health problem with a great impact on morbidity and mortality, both in Egypt and worldwide. Recently, metformin and aspirin showed a potential anticancer effect on HCC, although the mechanism of this effect is not fully elucidated. OBJECTIVE: The current work aimed to investigate the possibility of targeting AMP-activated protein kinase (AMPK), mammalian target of rapamycin (mTOR), and β-catenin proteins through combined metformin/aspirin treatment in the HepG2 cell line, and to explore such molecular targets in Egyptian HCC patients...
November 1, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29075961/checkpoint-kinase-1-expression-predicts-poor-prognosis-in-nigerian-breast-cancer-patients
#8
Henry Okuchukwu Ebili, Victoria O Iyawe, Kikelomo Rachel Adeleke, Babatunde Abayomi Salami, Adekunbiola Aina Banjo, Chris Nolan, Emad Rakha, Ian Ellis, Andrew Green, Ayodeji Olayinka Johnson Agboola
BACKGROUND: Checkpoint kinase 1 (CHEK1), a DNA damage sensor and cell death pathway stimulator, is regarded as an oncogene in tumours, where its activities are considered essential for tumourigenesis and the survival of cancer cells treated with chemotherapy and radiotherapy. In breast cancer, CHEK1 expression has been associated with an aggressive tumour phenotype, the triple-negative breast cancer subtype, an aberrant response to tamoxifen, and poor prognosis. However, the relevance of CHEK1 expression has, hitherto, not been investigated in an indigenous African population...
October 26, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28986854/altered-epigenetic-mechanisms-in-thyroid-cancer-subtypes
#9
REVIEW
Maryam Zarkesh, Azita Zadeh-Vakili, Fereidoun Azizi, Forough Foroughi, Maziar Mohammad Akhavan, Mehdi Hedayati
Thyroid carcinoma (TC) is the most frequent malignant neoplasm of the endocrine system. Molecular methods for diagnosis of invasive thyroid disease can be effectively adopted. Epigenetic factors play an important role in the diversity patterns of gene expression and the phenotypic and biological characteristics of TC subtypes. We aimed to review epigenetic changes in the main subtypes of TC, along with a presentation of the methods that have examined these changes, and active clinical trials for the treatment of advanced TCs targeting epigenetic changes...
October 6, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28975585/polymorphisms-in-genes-involved-in-the-leptin-melanocortin-pathway-are-associated-with-obesity-related-cardiometabolic-alterations-in-a-southern-chilean-population
#10
Victor Manriquez, Jorge Aviles, Luis Salazar, Nicolas Saavedra, Pamela Seron, Fernando Lanas, Cristina Moreno Fajardo, Mario Hiroyuki Hirata, Rosario Dominguez Crespo Hirata, Alvaro Cerda
BACKGROUND: Polymorphisms in genes encoding proteins of the leptin-melanocortin pathway have been associated with obesity. The involvement of these polymorphisms with changes in body mass index (BMI) and anthropometric measures could also imply a contribution to the risk of metabolic syndrome (MetS) and metabolic alterations. We evaluated the relationship of leptin-melanocortin system polymorphisms with obesity, MetS, and other metabolic alterations in Southern Chilean individuals. METHODS: Two-hundred individuals were grouped as normoweight (BMI 18...
October 3, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28986857/increased-sensitivity-of-diagnostic-mutation-detection-by-re-analysis-incorporating-local-reassembly-of-sequence-reads
#11
Christopher M Watson, Nick Camm, Laura A Crinnion, Samuel Clokie, Rachel L Robinson, Julian Adlard, Ruth Charlton, Alexander F Markham, Ian M Carr, David T Bonthron
BACKGROUND: Diagnostic genetic testing programmes based on next-generation DNA sequencing have resulted in the accrual of large datasets of targeted raw sequence data. Most diagnostic laboratories process these data through an automated variant-calling pipeline. Validation of the chosen analytical methods typically depends on confirming the detection of known sequence variants. Despite improvements in short-read alignment methods, current pipelines are known to be comparatively poor at detecting large insertion/deletion mutations...
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28929468/authors-reply-to-uguen-comparison-of-five-different-assays-for-the-detection-of-braf-mutations-in-formalin-fixed-paraffin-embedded-tissues-of-patients-with-metastatic-melanoma
#12
LETTER
Alexandre Harlé, Claire Franczak
No abstract text is available yet for this article.
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28929431/comment-on-comparison-of-five-different-assays-for-the-detection-of-braf-mutations-in-formalin-fixed-paraffin-embedded-tissues-of-patients-with-metastatic-melanoma
#13
LETTER
https://www.readbyqxmd.com/read/28900865/genetic-counseling-in-primary-immunodeficiency-disorders-an-emerging-experience-in-egypt
#14
Rabab E El Hawary, Safa S Meshaal, Dalia S Abd Elaziz, Marwa A Elsharkawy, Radwa S Alkady, Sohilla Lotfy, Ahmad El-Sheikhah, Amr Hassan, Nermeen M Galal, Jeannette A Boutros, Aisha M Elmarsafy
BACKGROUND: Primary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and, unless urgently treated with immune reconstitution, patients do not usually survive. With the continuing progress in molecular diagnosis, many mutations have been described in more than 300 genes. Genetic counseling has recently been considered an essential part of the management of PIDs. This study presents the experience of genetic counseling services in the largest PID center in Egypt, and reports on our management plan and the impact of prenatal diagnosis (PND) on families...
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28819757/development-of-cyp21a2-genotyping-assay-for-the-diagnosis-of-congenital-adrenal-hyperplasia
#15
Mayara Jorgens Prado, Simone Martins de Castro, Cristiane Kopacek, Maricilda Palandi de Mello, Thaiane Rispoli, Tarciana Grandi, Cláudia Maria Dornelles da Silva, Maria Lucia Rosa Rossetti
BACKGROUND: Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or false negative results. In order to assist the diagnosis, molecular methodologies have been employed. This work aimed to perform genotyping assays to detect mutations in the CYP21A2 gene and compare the findings with other population studies...
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28808920/prospective-turkish-cohort-study-to-investigate-the-frequency-of-niemann-pick-disease-type-c-mutations-in-consanguineous-families-with-at-least-one-homozygous-family-member
#16
Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations...
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28744745/circulating-mrna-in-maternal-plasma-at-the-second-trimester-of-pregnancy-a-possible-screening-tool-for-cardiac-conotruncal-and-left-ventricular-outflow-tract-abnormalities
#17
Elena Contro, Lara Stefani, Silvia Berto, Cristina Lapucci, Diego Arcelli, Daniela Prandstraller, Antonella Perolo, Nicola Rizzo, Antonio Farina
OBJECTIVE: Maternal plasma is a source of circulating placental nucleic acids. This study was designed to detect aberrantly expressed placental mRNA genes circulating in the maternal plasma of pregnancies affected with fetal conotruncal anomalies (CNTRA) and left-ventricular outflow tract (LVOT) obstruction in the second trimester of pregnancy. METHODS: This was a retrospective monocentric study conducted from 1 Jan 2016 to 31 Dec 2016. NanoString technology was used to identify aberrantly expressed genes, comparing 36 women carrying a fetus with CNTRA or LVOT obstruction to 42 controls at 19-24 weeks of gestation...
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28726006/microrna-21-in-skin-fibrosis-potential-for-diagnosis-and-treatment
#18
REVIEW
Yan Li, Juan Zhang, Yuying Lei, Lechun Lyu, Ruiling Zuo, Ting Chen
Skin fibrosis is a common pathological process characterized by fibroblast proliferation and excessive deposition of extracellular matrix. However, the pathogenesis of the disease is still not clear. Previous studies have shown that microRNA-21 may play pivotal roles in the regulation of a variety of skin fibrosis, including keloid, scleroderma, and hypertrophic scar. In this review, we outline the structure, expression, and regulation of microRNA-21 and its role in fibrotic skin diseases. In future, it may be useful as a prognostic or diagnostic marker...
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28707287/are-the-origins-of-precision-medicine-found-in-the-corpus-hippocraticum
#19
Meropi K Konstantinidou, Makrina Karaglani, Maria Panagopoulou, Aliki Fiska, Ekaterini Chatzaki
Precision medicine (PM) is currently placed at the center of global attention following decades of research towards the improvement of medical practice. The subject of this study was to examine whether this trend had emerged earlier, in fact if the fundamentals of PM can be traced back to the ancient Greek era. For this reason, we studied the collection of all the Hippocratic texts, called the Corpus Hippocraticum, using original translations, and attempted an interpretation of the ancient authors in the context of the modern concept of PM...
December 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28698977/pharmacogenetics-and-pharmacogenomics-of-targeted-therapeutics-in-chronic-myeloid-leukemia
#20
REVIEW
Aritro Nath, Jacqueline Wang, R Stephanie Huang
The advent of targeted therapeutics has greatly improved outcomes of chronic myeloid leukemia (CML) patients. Despite increased efficacy and better clinical responses over cytotoxic chemotherapies, many patients receiving targeted drugs exhibit a poor initial response, develop drug resistance, or undergo relapse after initial success. This inter-individual variation in response has heightened the interest in studying pharmacogenetics and pharmacogenomics (PGx) of cancer drugs. In this review, we discuss the influence of various germline and somatic factors on targeted drug response in CML...
December 2017: Molecular Diagnosis & Therapy
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