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Molecular Diagnosis & Therapy

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https://www.readbyqxmd.com/read/28986857/increased-sensitivity-of-diagnostic-mutation-detection-by-re-analysis-incorporating-local-reassembly-of-sequence-reads
#1
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...
October 6, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28986854/altered-epigenetic-mechanisms-in-thyroid-cancer-subtypes
#2
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
#3
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/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
#4
LETTER
Alexandre Harlé, Claire Franczak
No abstract text is available yet for this article.
September 19, 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
#5
LETTER
Arnaud Uguen
No abstract text is available yet for this article.
September 19, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28900876/improving-diagnostic-and-therapeutic-outcomes-in-pediatric-brain-tumors
#6
REVIEW
Sydney T Grob, Jean M Mulcahy Levy
Pediatric brain tumors are the primary cause of cancer-related death during childhood. Unfortunately, the number of primary and metastatic brain tumors is steadily increasing while the mortality rates for many central nervous system (CNS) lesions have remained stagnant. Molecularly defined tumor classes have been added to the most recent 2016 World Health Organization (WHO) Classification System of Central Nervous System Brain Tumors, driving potential new treatments and identifying targets to improve survival for these patients...
September 12, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28900867/recent-advances-in-the-etiopathogenesis-of-inflammatory-bowel-disease-the-role-of-omics
#7
REVIEW
Eleni Stylianou
Omics technology presents an exciting and timely opportunity to improve our understanding of the molecular etiology and pathogenesis of the group of chronic, heterogeneous, inflammatory disorders that comprise inflammatory bowel disease (IBD). Interest in the use of omics in the biomedical and clinical research communities is gaining pace due to its potential to make huge strides in our understanding of IBD causality, and pathology. Omics-related research also has applicability for biomarker discovery and the development of individualized treatments for patients, termed 'precision medicine'...
September 12, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28900865/genetic-counseling-in-primary-immunodeficiency-disorders-an-emerging-experience-in-egypt
#8
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...
September 12, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28819757/development-of-cyp21a2-genotyping-assay-for-the-diagnosis-of-congenital-adrenal-hyperplasia
#9
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...
August 17, 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
#10
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...
August 14, 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
#11
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...
July 25, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28676952/erratum-to-genetic-counselling-for-maternally-inherited-mitochondrial-disorders
#12
Joanna Poulton, Josef Finsterer, Patrick Yu-Wai-Man
No abstract text is available yet for this article.
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28567595/do-alpha-thalassemia-fetal-hemoglobin-and-the-ugt1a1-polymorphism-have-an-influence-on-serum-bilirubin-levels-and-cholelithiasis-in-patients-with-sickle-cell-disease
#13
Laura Alencastro de Azevedo, Joyce Bonazzoni, Sandrine Comparsi Wagner, Mariela Granero Farias, Christina M Bittar, Liane Daudt, Simone Martins de Castro
BACKGROUND: Increased destruction of erythrocytes in patients with sickle cell disease results in chronic hyperbilirubinemia and leads to the formation of gallstones. OBJECTIVES: The objective of this study was to determine the combined influence of alpha thalassemia, fetal hemoglobin, and the UGT1A1 polymorphism on serum bilirubin levels and cholelithiasis in patients with sickle cell disease. METHODS: We analyzed 72 patients treated in the outpatient hematology unit of the Clinical Hospital of Porto Alegre...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28536827/genetic-counselling-for-maternally-inherited-mitochondrial-disorders
#14
REVIEW
Joanna Poulton, Josef Finsterer, Patrick Yu-Wai-Man
The aim of this review was to provide an evidence-based approach to frequently asked questions relating to the risk of transmitting a maternally inherited mitochondrial disorder (MID). We do not address disorders linked with disturbed mitochondrial DNA (mtDNA) maintenance, causing mtDNA depletion or multiple mtDNA deletions, as these are autosomally inherited. The review addresses questions regarding prognosis, recurrence risks and the strategies available to prevent disease transmission. The clinical and genetic complexity of maternally inherited MIDs represent a major challenge for patients, their relatives and health professionals...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28405803/mir-15a-5p-a-novel-prognostic-biomarker-predicting-recurrent-colorectal-adenocarcinoma
#15
Christos K Kontos, Panagiotis Tsiakanikas, Margaritis Avgeris, Iordanis N Papadopoulos, Andreas Scorilas
INTRODUCTION: Colorectal cancer is one of the most common gastrointestinal diseases and the second leading cause of cancer-associated deaths among adults. miR-15a-5p is a post-transcriptional regulator of the proto-oncogene MYB, a transcription factor essential for prolonged cancer cell proliferation and survival. In the current study, we assessed the potential diagnostic and prognostic utility of miR-15a-5p expression in colorectal adenocarcinoma. METHODS: To accomplish this goal, total RNA was extracted from 182 colorectal adenocarcinoma specimens and 86 non-cancerous colorectal mucosae...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28357677/identification-of-a-novel-somatic-mutation-leading-to-allele-dropout-for-egfr-l858r-genotyping-in-non-small-cell-lung-cancer
#16
Helio A Costa, Joel W Neal, Carlos D Bustamante, James L Zehnder
OBJECTIVE: While PCR-based genotyping methods abound in molecular testing for lung cancer therapy, these approaches may not provide the robust sensitivity to detect accurate genotypes in a variable cancer genomic background. METHODS: Here, we describe a study of a clinical tumor specimen containing a novel somatic single nucleotide variant that caused allele drop-out in EGFR L858R genotyping, resulting in a false-negative interpretation and impacting patient clinical management...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28337711/circulating-tumor-dna-for-mutation-detection-and-identification-of-mechanisms-of-resistance-in-non-small-cell-lung-cancer
#17
REVIEW
Kay T Yeung, Soham More, Brian Woodward, Victor Velculescu, Hatim Husain
Targeted therapies have changed the treatment landscape of non-small cell lung cancer over the past decade. Analyses of cell free circulating tumor DNA (ctDNA) provide a non-invasive and robust approach for cancer diagnosis and prognosis, real-time monitoring of treatment response, and the identification of appropriate therapeutic targets based on the detection of tumor genetic aberrations. Recent improvements in the sensitivity, specificity, and feasibility of ctDNA detection assays allow the possibility for implementation into clinical practice...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28299719/the-non-coding-transcriptome-of-prostate-cancer-implications-for-clinical-practice
#18
REVIEW
Irene V Bijnsdorp, Martin E van Royen, Gerald W Verhaegh, Elena S Martens-Uzunova
Prostate cancer (PCa) is the most common type of cancer and the second leading cause of cancer-related death in men. Despite extensive research, the molecular mechanisms underlying PCa initiation and progression remain unclear, and there is increasing need of better biomarkers that can distinguish indolent from aggressive and life-threatening disease. With the advent of advanced genomic technologies in the last decade, it became apparent that the human genome encodes tens of thousands non-protein-coding RNAs (ncRNAs) with yet to be discovered function...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28271451/the-utility-of-biomarkers-in-osteoporosis-management
#19
REVIEW
Patrick Garnero
The measurement of bone turnover markers is useful for the clinical investigation of patients with osteoporosis. Among the available biochemical markers, the measurements of serum procollagen type I N-terminal propeptide (PINP) and the crosslinked C-terminal telopeptide (serum CTX) have been recommended as reference markers of bone formation and bone resorption, respectively. The important sources of preanalytical and analytical variability have been identified for both markers, and precise measurement can now be obtained...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28247183/the-challenges-of-precision-medicine-in-copd
#20
Mario Cazzola, Luigino Calzetta, Paola Rogliani, Maria Gabriella Matera
Pheno-/endotyping chronic obstructive pulmonary disease (COPD) is really important because it provides patients with precise and personalized medicine. The central concept of precision medicine is to take individual variability into account when making management decisions. Precision medicine should ensure that patients get the right treatment at the right dose at the right time, with minimum harmful consequences and maximum efficacy. Ideally, we should search for genetic and molecular biomarker-based profiles...
August 2017: Molecular Diagnosis & Therapy
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