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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
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...
May 22, 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...
May 18, 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...
May 18, 2018: Molecular Diagnosis & Therapy
Jae Myeong Kang, Jun-Young Lee, Yu Kyeong Kim, Bo Kyung Sohn, Min Soo Byun, Ji Eun Choi, Soo Kyung Son, Hyung-Jun Im, Jae-Hoon Lee, Young Hoon Ryu, Dong Young Lee
BACKGROUND: Fluorodeoxyglucose (FDG) positron emission tomography (PET) is useful to predict Alzheimer's disease (AD) conversion in patients with mild cognitive impairment (MCI). However, few studies have examined the extent to which FDG PET alone can predict AD conversion and compared the efficacy between visual and computer-assisted analysis directly. OBJECTIVE: The current study aimed to evaluate the value of FDG PET in predicting the conversion to AD in patients with MCI and to compare the predictive values of visual reading and computer-assisted analysis...
May 14, 2018: Molecular Diagnosis & Therapy
Markéta Škereňová, Veronika Mikulová, Otakar Čapoun, David Švec, Katarína Kološtová, Viktor Soukup, Hana Honová, Tomáš Hanuš, Tomáš Zima
BACKGROUND: Molecular characterization of tumors could be a key to therapeutic decision-making with regards to targeted therapies in castration-resistant prostate cancer (CRPC). A convenient solution may be non-invasive liquid biopsy testing of circulating tumor cells (CTCs). For this reason, CTC-enriched samples obtained by immunomagnetic separation (AdnaTest® ) were studied as a source material for high-throughput gene expression analysis using BioMark™. PATIENTS AND METHODS: CTC-enriched samples from 41 CRPC patients previously determined to be CTC positive using the AdnaTest® were retrospectively re-analysed for androgen receptor (AR) messenger RNA (mRNA), using the updated AdnaTest® ...
May 3, 2018: Molecular Diagnosis & Therapy
Laura Lorés-Motta, Eiko K de Jong, Anneke I den Hollander
Precision medicine aims to improve patient care by adjusting medication to each patient's individual needs. Age-related macular degeneration (AMD) is a heterogeneous eye disease in which several pathways are involved, and the risk factors driving the disease differ per patient. As a consequence, precision medicine holds promise for improved management of this disease, which is nowadays a main cause of vision loss in the elderly. In this review, we provide an overview of the studies that have evaluated the use of molecular biomarkers to predict response to treatment in AMD...
June 2018: Molecular Diagnosis & Therapy
Ezequiel Iván Juritz, Juan Pablo Bascur, Daniel Eduardo Almonacid, Fernando Danilo González-Nilo
BACKGROUND: Isocitrate dehydrogenase 1 (IDH1) is a dimeric enzyme responsible for supplying the cell's nicotinamide adenine dinucleotide phosphate (NADPH) reserves via dehydrogenation of isocitrate (ICT) and reduction of NADP+. Mutations in position R132 trigger cancer by enabling IDH1 to produce D-2-hydroxyglutarate (2-HG) and reduce inhibition by ICT. Mutant IDH1 can be found as a homodimer or a heterodimer. OBJECTIVE: We propose a novel strategy to inhibit IDH1 R132 variants as a means not to decrease the concentration of 2-HG but to provoke a cytotoxic effect, as the cell malignancy at this point no longer depends on 2-HG...
June 2018: Molecular Diagnosis & Therapy
Pratiksha Chheda, Milind Chanekar, Yogita Salunkhe, Tavisha Dama, Anurita Pais, Shailesh Pande, Rajesh Bendre, Nilesh Shah
BACKGROUND: Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder with an average age at onset of 40 years. It is a polyglutamine (polyQ) disorder that is caused by an increase in the number of CAG repeats in the huntingtin (HTT) gene. Genetic tests that accurately determine the number of CAG repeats are performed for confirmation of diagnosis, predictive testing of persons at genetic risk for inheriting HD, and prenatal testing. The aim of our study was to evaluate efficacy of triplet-primed polymerase chain reaction (TP-PCR) for routine diagnosis of HD in suspected cases from India...
June 2018: Molecular Diagnosis & Therapy
Marcos R Escobedo-Guerra, Mitzuko Katoku-Herrera, Marcela Lopez-Hurtado, Rodrigo Gutierrez-Trujillo, Fernando M Guerra-Infante
BACKGROUND: Neisseria gonorrhoeae is one of the main etiological agents of sexually transmitted diseases. The asymptomatic course of the infection and its resistance to antibiotics can lead to pelvic inflammatory disease and infertility. OBJECTIVES: We developed a polymerase chain reaction (PCR) test using the methyltetrahydrofolate homocysteine methyltransferase reductase (mtrR) gene to identify N. gonorrhoeae and detect reduced susceptibility to antibiotics. MATERIAL AND METHODS: We analysed 250 samples of endocervical exudate from infertile women with a negative diagnosis of N...
June 2018: Molecular Diagnosis & Therapy
Kalliopi Gerogianni, Aspasia Tsezou, Konstantinos Dimas
Adverse drug reactions (ADRs) affect many patients and remain a major public health problem, as they are a common cause of morbidity and mortality. It is estimated that ADRs are responsible for about 6% of hospital admissions and about 9% of hospitalization costs. Skin is the organ that is most frequently involved in ADRs. Drug-induced skin injuries vary from mild maculopapular eruptions (MPE) to severe cutaneous adverse reactions (SCARs) that are potentially life threatening. Genetic factors have been suggested to contribute to these SCARs, and most significant genetic associations have been identified in the major histocompatibility complex (MHC) genes...
June 2018: Molecular Diagnosis & Therapy
Abhay P Mishra, Bahare Salehi, Mehdi Sharifi-Rad, Raffaele Pezzani, Farzad Kobarfard, Javad Sharifi-Rad, Manisha Nigam
Programmed cell death (PCD) is probably the most widely discussed subject among the topics of cancer therapy. Over the last 2 decades an astonishing boost in our perception of cell death has been seen, and its role in cancer and cancer therapy has been thoroughly investigated. A number of discoveries have clarified the molecular mechanism of PCD, thus expounding the link between PCD and therapeutic tools. Even though PCD is assumed to play a major role in anticancer therapy, the clinical relevance of its induction remains uncertain...
June 2018: Molecular Diagnosis & Therapy
Carmen Pheiffer, Stephanie Dias, Paul Rheeder, Sumaiya Adam
BACKGROUND AND OBJECTIVE: In recent years circulating microRNAs (miRNAs) have attracted interest as biomarkers of metabolic disease. MiRNA expression varies across population groups; thus, the aim of this study was to investigate whether serum miRNAs that have previously been shown to be associated with gestational diabetes mellitus (GDM) in other populations, are similarly regulated in South African women with GDM. METHODS: In this case-control study, women (n = 81) were selected from a prospective cohort study in which pregnant women were recruited at their first clinic visit and requested to return for fasting blood glucose concentration measurements and serum collection (median 27 weeks; range 13-31 weeks)...
June 2018: Molecular Diagnosis & Therapy
Suman K Paine, Analabha Basu, Rajib Gon Choudhury, Basudev Bhattacharya, Sidhartha Chatterjee, Chandra Bhattacharya
AIM: Genital tuberculosis (GTB) is a potent contributor to irreversible damage to the reproductive system and infertility in females. As no gold standard diagnostic tool is yet available, clinical suspicion and relatively insensitive approaches such as histopathology, laparoscopy and hysterosalpingogram are currently critical determinants in the diagnosis of GTB. Although a polymerase chain reaction (PCR)-based assay using endometrial tissue seems promising, sampling does require an invasive procedure...
June 2018: Molecular Diagnosis & Therapy
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...
June 2018: Molecular Diagnosis & Therapy
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