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Molecular Diagnosis & Therapy

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...
October 11, 2018: Molecular Diagnosis & Therapy
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...
October 1, 2018: Molecular Diagnosis & Therapy
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...
September 27, 2018: Molecular Diagnosis & Therapy
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...
September 26, 2018: Molecular Diagnosis & Therapy
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...
September 26, 2018: Molecular Diagnosis & Therapy
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
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...
August 3, 2018: Molecular Diagnosis & Therapy
Dorota Pastuszak-Lewandoska, Daria Domańska-Senderowska, Adam Antczak, Jacek Kordiak, Paweł Górski, Karolina H Czarnecka, Monika Migdalska-Sęk, Ewa Nawrot, Justyna M Kiszałkiewicz, Ewa Brzeziańska-Lasota
BACKGROUND: The interleukin (IL)-4/IL-13/signal transducer and activator of transcription (STAT) 6 signaling pathway and the SOCS3 gene, one of its main regulators, constitute an important link between the inflammation process in the epithelial cells and inflammatory-related tumorigenesis. The present study is the first to evaluate IL-4, IL-13, STAT6, and SOCS3 mRNA expression in non-small cell lung carcinoma (NSCLC) histopathological subtypes. METHODS: Gene expression levels were assessed using TaqMan® probes by quantitative reverse transcription PCR (qRT-PCR) in lung tumor samples and unchanged lung tissue samples...
October 2018: Molecular Diagnosis & Therapy
Danila Morano, Stefania Rossi, Cristina Lapucci, Maria Carla Pittalis, Antonio Farina
OBJECTIVE: Our objective was to retrospectively evaluate whether the levels of cell-free DNA (cfDNA) fetal fraction differed in the first trimester of pregnancies between controls and those who subsequently developed early- or late-onset fetal growth restriction (FGR). METHODS: This was a case-control study conducted between May 2015 and May 2018 in 231 low-risk women who had received first trimester screening for major fetal aneuploidies (Panorama, Natera, San Carlos, CA, USA)...
October 2018: Molecular Diagnosis & Therapy
Shannon Rose, Dmitriy M Niyazov, Daniel A Rossignol, Michael Goldenthal, Stephen G Kahler, Richard E Frye
Autism spectrum disorder (ASD) affects ~ 2% of children in the United States. The etiology of ASD likely involves environmental factors triggering physiological abnormalities in genetically sensitive individuals. One of these major physiological abnormalities is mitochondrial dysfunction, which may affect a significant subset of children with ASD. Here we systematically review the literature on human studies of mitochondrial dysfunction related to ASD. Clinical aspects of mitochondrial dysfunction in ASD include unusual neurodevelopmental regression, especially if triggered by an inflammatory event, gastrointestinal symptoms, seizures, motor delays, fatigue and lethargy...
October 2018: Molecular Diagnosis & Therapy
Marija Debeljak, Michael Noë, Stacy L Riel, Lisa M Haley, Alexis L Norris, Derek A Anderson, Emily M Adams, Masaya Suenaga, Katie F Beierl, Ming-Tseh Lin, Michael G Goggins, Christopher D Gocke, James R Eshleman
BACKGROUND: Ultrasensitive detection of low-abundance DNA point mutations is a challenging molecular biology problem, because nearly identical mutant and wild-type molecules exhibit crosstalk. Reliable ultrasensitive point mutation detection will facilitate early detection of cancer and therapeutic monitoring of cancer patients. OBJECTIVE: The objective of this study was to develop a method to correct errors in low-level cell line mixes. MATERIALS AND METHODS: We tested sample mixes with digital-droplet PCR (ddPCR) and next-generation sequencing...
October 2018: Molecular Diagnosis & Therapy
L E Crowley, M Mekki, S Chand
This review is focused on present and future biomarkers, along with pharmacogenomics used in clinical practice for kidney transplantation. It aims to highlight biomarkers that could potentially be used to improve kidney transplant early and long-term graft survival, but also potentially patient co-morbidity. Future directions for improving outcomes are discussed, which include immune tolerance and personalising immunosuppression regimens.
October 2018: Molecular Diagnosis & Therapy
Jill S Goldman, Vivianna M Van Deerlin
The advent of next-generation sequencing has changed genetic diagnostics, allowing clinicians to test concurrently for phenotypically overlapping conditions such as Alzheimer's disease (AD) and frontotemporal dementia (FTD). However, to interpret genetic results, clinicians require an understanding of the benefits and limitations of different genetic technologies, such as the inability to detect large repeat expansions in such diseases as C9orf72-associated FTD and amyotrophic lateral sclerosis. Other types of mutations such as large deletions or duplications and triple repeat expansions may also go undetected...
October 2018: Molecular Diagnosis & Therapy
Sonja Elf, Jenni Olli, Sanna Hirvonen, Pauliina Auvinen, Kevin E Eboigbodin
INTRODUCTION: Streptococcus pyogenes (group A Streptococcus, GAS) is responsible for a variety of highly communicable infections, accounting for 5-15 and 20-30% of sore throat hospital visits in adults and children, respectively. Prompt diagnosis of GAS can improve the quality of patient care and minimize the unnecessary use of antibiotics. OBJECTIVE: Our objective was to develop an alternative nucleic acid amplification method for the diagnosis of GAS. METHOD: We developed and evaluated a strand invasion based amplification (SIBA) assay to rapidly and specifically detect GAS...
October 2018: Molecular Diagnosis & Therapy
Jing Zhu, Siyu Chen, Fan Zhang, Liang Wang
Extrachromosomal circular DNAs (eccDNAs) are circular DNAs that are originated from chromosomes, but are independent from chromosomal DNA. The eccDNAs are commonly found in various tissues and cell types, and in both normal and diseased conditions. Due to their highly heterogeneous origins and being widely spread in nearly all eukaryotes, the eccDNAs are believed to reflect the genome's plasticity and instability. With the assistance of next-generation sequencing, more eccDNAs have been characterized at the molecular level...
October 2018: Molecular Diagnosis & Therapy
M Guarene, A Pasi, V Bolcato, R Cananzi, A Piccolo, I Sbarsi, C Klersy, R Cacciatore, Valeria Brazzelli
BACKGROUND: Psoriasis is an immune-mediated dermatosis with a wide genetic predisposition. The immunogenetic background, specifically interactions between human leukocyte antigen (HLA) class I ligands and killer-cell immunoglobulin-like receptor (KIRs), have functional significance in modulating natural killer (NK) cells and can influence susceptibility and response to biological therapy. OBJECTIVE: The main aim of this study was to correlate HLA-A and -B KIR ligands with response to biological therapy in patients with psoriasis...
August 2018: Molecular Diagnosis & Therapy
Claudia Pisanu, Urs Heilbronner, Alessio Squassina
Bipolar disorder (BD) is a common and disabling psychiatric condition with a severe socioeconomic impact. BD is treated with mood stabilizers, among which lithium represents the first-line treatment. Lithium alone or in combination is effective in 60% of chronically treated patients, but response remains heterogenous and a large number of patients require a change in therapy after several weeks or months. Many studies have so far tried to identify molecular and genetic markers that could help us to predict response to mood stabilizers or the risk for adverse drug reactions...
August 2018: Molecular Diagnosis & Therapy
Brittany N Lasseigne, James D Brooks
Renal cell carcinoma (RCC) is the most common kidney cancer and includes several molecular and histological subtypes with different clinical characteristics. While survival rates are high if RCC is diagnosed when still confined to the kidney and treated definitively, there are no specific diagnostic screening tests available and symptoms are rare in early stages of the disease. Management of advanced RCC has changed significantly with the advent of targeted therapies, yet survival is usually increased by months due to acquired resistance to these therapies...
August 2018: Molecular Diagnosis & Therapy
Anna Pańczyszyn, Ewa Boniewska-Bernacka, Grzegorz Głąb
Human papillomaviruses (HPVs) belong to a small spherical virus family and are transmitted through direct contact, most often through sexual behavior. More than 200 types of HPV are known, a dozen or so of which are classified as high-risk viruses (HR HPV) and may contribute to the development of cervical cancer. HPV is a small virus with a capsid composed of L1 and L2 proteins, which are crucial for entry to the cell. The infection begins at the basal cell layer and progresses to involve cells from higher layers of the cervical epithelium...
August 2018: Molecular Diagnosis & Therapy
Javad Yazdani, Mohhamad Ali Ghavimi, Elahe Jabbari Hagh, Farzin Ahmadpour
PURPOSE: In this study, we systematically investigated and analyzed articles focusing on the prognostic value of E-cadherin (E-cad) in human head and neck squamous cell carcinoma (HNSCC). METHODS: Searching through the different databases, the studies examining the associations between E-cad and HNSCC prognosis were identified. Outcomes such as disease-specific survival and overall survival were considered acceptable. Hazard ratio (HR) with 95% confidence interval (CI) was used to demonstrate prognostic value...
July 13, 2018: Molecular Diagnosis & Therapy
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