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Molecular Diagnosis & Therapy

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https://www.readbyqxmd.com/read/30506513/novel-brca1-large-genomic-rearrangements-in-italian-breast-ovarian-cancer-patients
#1
Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Rossella De Leo, Evelin Schrock, Andrea Urbani, Ettore Capoluongo, Gianfranco Gelli, Paola Concolino
BACKGROUND: In recent years, the number of patients being offered BRCA1/2 testing has changed dramatically. Advances in high-throughput sequencing technology have led many diagnostic laboratories to test next-generation sequencing (NGS)-based platforms as the main technology for clinical testing. As a consequence, the proportion of novel BRCA1/2 variants detected has greatly increased. Here, we describe two novel BRCA1 large deletions detected in Italian patients affected by hereditary breast and ovarian cancer syndrome (HBOC)...
December 1, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30484264/oxidative-stress-in-%C3%AE-thalassemia
#2
REVIEW
Eitan Fibach, Mutaz Dana
Cell oxidative status, which represents the balance between oxidants and antioxidants, is involved in normal functions. Under pathological conditions, there is a shift toward the oxidants, leading to oxidative stress, which is cytotoxic, causing oxidation of cellular components that result in cell death and organ damage. Thalassemia is a hereditary hemolytic anemia caused by mutations in globin genes that cause reduced or complete absence of specific globin chains (commonly, α or β). Although oxidative stress is not the primary etiology of thalassemia, it mediates several of its pathologies...
November 27, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30478715/innovative-therapies-for-cystic-fibrosis-the-road-from-treatment-to-cure
#3
REVIEW
Giulio Cabrini
Cystic fibrosis (CF), a life-threatening multiorgan genetic disease, is facing a new era of research and development using innovative gene-directed personalized therapies. The priority organ to cure is the lung, which suffers recurrent and chronic bacterial infection and inflammation since infancy, representing the main cause of morbidity and precocious mortality of these individuals. After the disappointing failure of gene-replacement approaches using gene therapy vectors, no single drug is presently available to repair all the CF gene defects...
November 26, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30478714/genetic-modifiers-of-fetal-haemoglobin-in-sickle-cell-disease
#4
REVIEW
Stephan Menzel, Swee Lay Thein
Fetal haemoglobin (HbF) levels have a clinically beneficial effect on sickle cell disease (SCD). Patients with SCD demonstrate extreme variability in HbF levels (1-30%), a large part of which is likely genetically determined. The main genetic modifier loci for HbF persistence, HBS1L-MYB, BCL11A and the β-globin gene cluster in adults also act in SCD patients. Their effects are, however, modified significantly by a disease pathology that includes a drastically shortened erythrocyte lifespan with an enhanced survival of those red blood cells that carry HbF (F cells)...
November 26, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30460549/correction-to-genome-wide-array-analysis-reveals-novel-genomic-regions-and-candidate-gene-for-intellectual-disability
#5
Xiangnan Chen, Huanzheng Li, Chong Chen, Lili Zhou, Xueqin Xu, Yanbao Xiang, Shaohua Tang
An Online First version of this article was made available online.
November 21, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30460548/correction-to-the-continuing-evolution-of-molecular-functional-imaging-in-clinical-oncology-the-road-to-precision-medicine-and-radiogenomics-part-ii
#6
Tanvi Vaidya, Archi Agrawal, Shivani Mahajan, M H Thakur, Abhishek Mahajan
An Online First version of this article was made available online at http://link.springer.com/journal/40291/onlineFirst/page/1 on 01 Nov 2018. An error was subsequently identified in the article, and the following correction should be noted.
November 20, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30413969/shwachman-diamond-syndrome-molecular-mechanisms-and-current-perspectives
#7
REVIEW
Valentino Bezzerri, Marco Cipolli
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. However, it has recently been reported that other genes, including DnaJ heat shock protein family (Hsp40) member C21 (DNAJC21), elongation factor-like 1 (EFL1) and signal recognition particle 54 (SRP54) are also associated with an SDS-like phenotype. Interestingly, SBDS, DNAJC21, EFL1 and SRP54 are involved in ribosome biogenesis: SBDS, through direct interaction with EFL1, promotes the release of the eukaryotic initiation factor 6 (eIF6) during ribosome maturation, DNAJC21 stabilizes the 80S ribosome, and SRP54 facilitates protein trafficking...
November 9, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30411216/the-continuing-evolution-of-molecular-functional-imaging-in-clinical-oncology-the-road-to-precision-medicine-and-radiogenomics-part-i
#8
Tanvi Vaidya, Archi Agrawal, Shivani Mahajan, Meenakshi H Thakur, Abhishek Mahajan
The present era of precision medicine sees 'cancer' as a consequence of molecular derangements occurring at the commencement of the disease process, with morphologic changes happening much later in the process of tumorigenesis. Conventional imaging techniques, such as computed tomography (CT), ultrasound, and magnetic resonance imaging (MRI), play an integral role in the detection of disease at a macroscopic level. However, molecular functional imaging (MFI) techniques entail the visualisation and quantification of biochemical and physiological processes occurring during tumorigenesis, and thus has the potential to play a key role in heralding the transition from the concept of 'one size fits all' to 'precision medicine'...
November 8, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30387041/the-continuing-evolution-of-molecular-functional-imaging-in-clinical-oncology-the-road-to-precision-medicine-and-radiogenomics-part-ii
#9
Tanvi Vaidya, Archi Aggarwal, Shivani Mahajan, M H Thakur, Abhishek Mahajan
The present era of precision medicine sees "cancer" as a consequence of molecular derangements occurring at the commencement of the disease process, with morphological changes happening much later in the process of tumourigenesis. Conventional imaging techniques, such as computed tomography (CT), ultrasound (US) and magnetic resonance imaging (MRI) play an integral role in the detection of disease at the macroscopic level. However, molecular functional imaging (MFI) techniques entail the visualisation and quantification of biochemical and physiological processes occurring during tumourigenesis...
November 1, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30218425/value-of-a-hypothetical-pharmacogenomic-test-for-the-diagnosis-of-statin-induced-myopathy-in-patients-at-high-cardiovascular-risk
#10
Dominic Mitchell, Jason R Guertin, Jacques LeLorier
We recently conducted two economic evaluations of a hypothetical pharmacogenomic test for statin-induced myopathy (SIM) in patients at high cardiovascular risk. Although the models differed in modeling technique and data inputs, both yielded similar results. We believe our approach to assessing the economic value of a diagnostic test was highly advantageous as it characterized the complete range of false-negative and false-positive test outcomes. We used a broad interpretation of test parameters that reflected physician and patient behavioral responses to the test results and accounted for patient adherence to treatment...
September 14, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30382561/precision-medicine-a-new-era
#11
EDITORIAL
Lisa M Giles, David L Cooper
No abstract text is available yet for this article.
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30377978/biochemical-markers-for-the-early-identification-of-osteoarthritis-systematic-review-and-meta-analysis
#12
REVIEW
Guomin Ren, Roman J Krawetz
BACKGROUND: There is a desperate need for the reliable detection of osteoarthritis (OA) at the early stage when patients are likely to benefit most from disease interventions. A variety of biochemical markers have been proposed, but their reliability varies among studies. OBJECTIVE: In this review, we aimed to answer the following questions: (1) are there biochemical markers that are differentially expressed in early OA versus healthy subjects, and (2) if so, what is the diagnostic value of these biomarkers for early OA? METHODS: Embase, PubMed, and Web of Science were searched to obtain all relevant studies up to March 2018, and studies comparing the biochemical markers between early OA and healthy controls were selected...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30377977/detection-of-a-traumatic-brain-injury-biomarker-at-the-10-fg-ml-level
#13
Anup S Mathew, Xuyang Shi, Siu-Tung Yau
BACKGROUND: The detection of minute amounts of protein biomarkers in body fluids is believed to provide early diagnosis and prognosis of mild traumatic brain injury (mTBI). An ultrasensitive detection method was used to detect S100B, the most studied potential marker for the diagnosis of mTBI. METHODS: The detection method was a modified electrochemical immunoassay technique that provides voltage controlled intrinsic current signal amplification. The sandwich immune complex of S100B was formed on the working electrode of the screen-printed electrode...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30368765/advances-in-carbon-nanotubes-for-malignant-melanoma-a-chance-for-treatment
#14
REVIEW
Elidamar Nunes de Carvalho Lima, José Roberto Castilho Piqueira, Durvanei Augusto Maria
Malignant melanoma is an aggressive skin cancer with limited therapeutic options. Cancer is the second largest cause of death in society and one of the most difficult diseases to treat. Advances in biotechnology have enabled the current use of nanotechnology via the application of nanomaterials, especially as drug delivery systems for the transportation of very small particles. In this context, carbon nanotubes, with a potential role in the diagnosis and treatment of melanoma, are still an emerging research field...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30311146/tlr4-polymorphisms-and-expression-in-solid-cancers
#15
REVIEW
Nilesh Pandey, Alex Chauhan, Neeraj Jain
Toll-like receptors (TLRs) are a type of pattern-recognition receptor (PRR) that are part of the innate immune system known to recognize pathogen-associated molecular patterns and thereby play a crucial role in host immune response. Among the various known TLRs, TLR4 is one of the most extensively studied PRRs expressed by immune, certain nonimmune, and tumor cells. When TLR4 binds with the bacterial lipopolysaccharide, it induces production of proinflammatory cytokines, chemokines, and effector molecules as part of the immune response...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30276554/molecular-testing-in-ebus-tbna-specimens-of-lung-adenocarcinoma-a-study-of-concordance-between-cell-block-method-and-liquid-based-cytology-in-appraising-sample-cellularity-and-egfr-mutations
#16
Daniele Magnini, Leonello Fuso, Francesco Varone, Ettore D'Argento, Maurizio Martini, Antonietta Pecoriello, Vincenzo Di Noia, Damiano Arciuolo, Guido Fadda, Guido Rindi, Luca Richeldi
PURPOSE: Cytological endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) specimens of mediastinal lymph node metastasis are frequently used to perform concomitant diagnosis, staging and genetic testing in non-small-cell lung cancer (NSCLC). The purposes of this single-center retrospective study were to evaluate EBUS-TBNA samples' adequacy for molecular testing of epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK), and to analyze the concordance between the cell block method and liquid-based cytology (LBC) in appraising the sample cellularity and in detecting EGFR mutation...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30259422/rapid-detection-of-the-macrolide-sensitivity-of-pneumonia-causing-mycoplasma-pneumoniae-using-quenching-probe-polymerase-chain-reaction-genecube-%C3%A2
#17
Yutaka Ito, Satoru Iwashima, Satoshi Hayano, Tomohiro Nishio, Ryosuke Shiozawa, Soichiro Yata, Toshiko Kubota, Akira Kubota, Keiichi Uemura
BACKGROUND AND OBJECTIVES: Macrolide-resistant Mycoplasma pneumoniae (MR-MP) have been reported worldwide. Strategies for the treatment of MR-MP are a key focus of research. The GENECUBE® is a novel, fully automated rapid genetic analyzer. The goals of this study were to assess the macrolide sensitivity of M. pneumoniae (MP) isolates by analyzing 23S ribosomal RNA (rRNA) gene sequences using a GENECUBE® -based system and to determine the validity of this system in determining clinical treatment options for MP pneumonia...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30259421/genome-wide-array-analysis-reveals-novel-genomic-regions-and-candidate-gene-for-intellectual-disability
#18
Xiangnan Chen, Huanzheng Li, Chong Chen, Lili Zhou, Xueqin Xu, Yanbao Xiang, Shaohua Tang
INTRODUCTION: Intellectual disability (ID) is often sporadic, and its complex etiology makes clinical diagnosis extremely difficult. OBJECTIVE: The aims of this study were to detect copy number variations (CNVs) in patients with ID and to analyze the correlation between pathogenic CNVs and clinical phenotype. METHODS: After cases of ID caused by metabolic dysfunction or environmental factors were excluded, 64 patients with moderate to severe ID were enrolled...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30259393/systematic-review-and-meta-analysis-of-the-prognostic-significance-of-mirnas-in-melanoma-patients
#19
REVIEW
Shanthi Sabarimurugan, Madhav Madurantakam Royam, Ankita Das, Shrestha Das, Gothandam K M, Rama Jayaraj
BACKGROUND: Melanoma is the most aggressive and deadly form of skin cancer. The molecular variability involving microRNA (miRNA) expression plays a significant role in melanogenesis, which leads to poor prognostic effects in melanoma. Since there is a scarcity of comprehensive data on the prognostic role of miRNAs in melanoma patients, this study focuses on filling this knowledge gap through a systematic review and meta-analysis. METHODS: The included studies were extracted from several bibliographic databases between 2012 and 2018 using multiple keywords according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines...
December 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30076588/treating-a-multidrug-resistant-psoriatic-hla-c-18-01-allele-carrier-with-combination-ustekinumab-apremilast-therapy
#20
Marco Galluzzo, Simone D'Adamio, Elena Campione, Luca Bianchi, Marina Talamonti
BACKGROUND: Nowadays, even though several biologic therapies are available to treat psoriasis, multidrug-resistant disease continues to be a therapeutic challenge. Combination therapy has therefore become increasingly important. In this context, apremilast, according to its safety profile, could easily be combined with biologics in patients with comorbidities and/or recalcitrant multidrug-resistant psoriasis. OBJECTIVE: Our goal is to share experience from our institution in the observation of a patient with severe chronic plaque psoriasis that was unresponsive to all anti-tumor necrosis factor-α treatment and to an anti-interleukin (IL)-17A drug and only partially responsive to ustekinumab, even in combination with apremilast...
December 2018: Molecular Diagnosis & Therapy
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