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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...
August 13, 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
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)...
July 28, 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...
July 23, 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
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...
July 5, 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.
July 4, 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...
July 3, 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...
July 3, 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...
June 29, 2018: Molecular Diagnosis & Therapy
Larissa R Bosqui, Priscilla D Marques, Gessica B de Melo, Maria do Rosário F Gonçalves-Pires, Fernanda M Malta, Wander R Pavanelli, Ivete Conchon-Costa, Julia M Costa-Cruz, Fabiana M Paula, Idessania N Costa
INTRODUCTION: Detection of Strongyloides stercoralis larvae is particularly challenging because only a small number of larvae are released into the feces, regardless of infection stage. OBJECTIVE: Our objective was to apply conventional polymerase chain reaction (PCR) to the detection of S. stercoralis DNA in feces samples to evaluate its performance in samples of patients with strongyloidiasis and compare results with those of immunodiagnosis. METHODS: Stool, serum, and saliva samples were collected from each individual (n = 48) at the clinic hospital of the State University of Londrina, Brazil, for parasitological, immunological, and molecular tests...
June 21, 2018: Molecular Diagnosis & Therapy
Fang Liu, Chunfang Wang, Yuantao Gao, Xiao Li, Feng Tian, Yongtao Zhang, Mingyang Fu, Pengfei Li, Yali Wang, Fei Wang
Small interfering RNAs (siRNAs) are an attractive new agent with potential as a therapeutic tool because of its ability to inhibit specific genes for many conditions, including viral infections and cancers. However, despite this potential, many challenges remain, including off-target effects, difficulties with delivery, immune responses, and toxicity. Traditional genetic vectors do not guarantee that siRNAs will silence genes in vivo. Rational design strategies, such as chemical modification, viral vectors, and non-viral vectors, including cationic liposomes, polymers, nanocarriers, and bioconjugated siRNAs, provide important opportunities to overcome these challenges...
June 20, 2018: Molecular Diagnosis & Therapy
Lihong Fan, Jie Sha, Junliang Teng, Dan Li, Changhui Wang, Qing Xia, Hao Chen, Bo Su, Huiwei Qi
BACKGROUND AND OBJECTIVE: To clarify whether there are different expressions between lung cancer and benign pulmonary diseases, we studied seven microRNAs (miRNAs) in serum from patients with non-small cell lung cancer (NSCLC), benign pulmonary nodules and four pulmonary inflammation diseases. METHODS: We detected the expression of miRNAs using quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR). RESULTS: We found that five miRNA ratios-miR-15b-5p/miR-146b-3p, miR-20a-5p/miR-146b-3p, miR-19a-3p/miR-146b-3p, miR-92a-3p/miR-146b-3p, and miR-16-5p/miR-146b-3p-show higher expression in the NSCLC group than the benign pulmonary nodule group, and 13 ratios of miRNAs were significantly upregulated in the NSCLC group compared with the pulmonary inflammation diseases group...
June 19, 2018: Molecular Diagnosis & Therapy
Shyam Sundar, Om Prakash Singh
Visceral leishmaniasis (VL), a deadly parasitic disease, is a major public health concern globally. Countries affected by VL have signed the London Declaration on Neglected Tropical Diseases and committed to eliminate VL as a public health problem by 2020. To achieve and sustain VL elimination, it will become progressively important not to miss any remaining cases in the community who can maintain transmission. This requires accurate identification of symptomatic and asymptomatic carriers using highly sensitive diagnostic tools at the primary health service setting...
June 19, 2018: Molecular Diagnosis & Therapy
Go J Yoshida
No abstract text is available yet for this article.
June 19, 2018: Molecular Diagnosis & Therapy
Mingming Liang, Yun Zhang, Chenyu Sun, Feras Kamel Rizeq, Min Min, Tingting Shi, Yehuan Sun
INTRODUCTION: The association between the checkpoint kinase 2*1100delC (CHEK2*1100delC) and breast cancer has been extensively explored. OBJECTIVE: In light of the recent publication of studies on these specific findings, particularly regarding male patients with breast cancer, we performed an updated meta-analysis to investigate a more reliable estimate. METHODS: This meta-analysis included 26 published studies selected in a search of electronic databases up to January 2018, including 118,735 breast cancer cases and 195,807 controls...
June 16, 2018: Molecular Diagnosis & Therapy
Kathleen Weigt, Alexandra Wiessner, Annette Moter, Florence Fenollar, Didier Raoult, Kristina Allers, Thomas Schneider, Verena Moos
INTRODUCTION: Chronic infection with Tropheryma whipplei, known as Whipple's disease (WD), classically affects the gastrointestinal tract, but any organ system may be affected, and isolated manifestations occur. Reliable diagnosis based on a combination of periodic acid-Schiff (PAS) staining, T. whipplei-specific immunohistochemistry (IHC), and polymerase chain reaction (PCR) from duodenal biopsies may be challenging in cases without classical gastrointestinal infection, so the need for additional diagnostic materials is urgent...
June 7, 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
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