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Molecular Diagnosis & Therapy

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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
#1
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
#2
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
#3
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
#4
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/29352434/author-correction-to-gene-patents-in-canada-is-there-a-new-legal-landscape
#5
Katherine J Bonter, Carmela De Luca, Christi J Guerrini
An error was subsequently identified in the article, and the following correction should be noted.
January 19, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29335927/mirnas-as-potential-treatment-targets-and-treatment-options-in-cancer
#6
REVIEW
Nina Petrovic, Sercan Ergun
Standard cancer therapies for solid malignancies, such as chemotherapy and radiotherapy, are not target specific against cancer cells and are often not fully efficacious. Chemotherapy and radiotherapy may cause side effects, and the need to develop additional strategies for cancer treatment is urgent. MicroRNAs (miRNAs) are small non-coding RNAs with heterogeneous functions and have been described in almost every known cancer model. Besides their basic tumor-suppressive and oncogenic functions, they also have the potential to modulate chemotherapy and radiotherapy and to be manipulated with chemical compounds to make them chemically suitable for efficient delivery to cancer cells...
January 15, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29236230/gene-patents-in-canada-is-there-a-new-legal-landscape
#7
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
#8
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
#9
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
#10
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
#11
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/28986857/increased-sensitivity-of-diagnostic-mutation-detection-by-re-analysis-incorporating-local-reassembly-of-sequence-reads
#12
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
#13
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
#14
LETTER
https://www.readbyqxmd.com/read/28900865/genetic-counseling-in-primary-immunodeficiency-disorders-an-emerging-experience-in-egypt
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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