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Molecular Diagnosis

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https://www.readbyqxmd.com/read/28109100/-claudin-3-expression-in-colorectal-carcinoma-and-its-significance
#1
Jing-Yi Li, Fang Xie, Xiao-Ping Xu, Juan-Juan Ma, Dai-Chao Zhou, Yan Liao, Jing Tang, Qian Xie, Lan Bai, Qing-Zhen Nan
OBJECTIVE: To investigate the expression of claudin-3 in colorectal carcinoma and its association with the occurrence, progression and prognosis of colorectal cancer. METHODS: Forty surgical specimens of colorectal carcinoma and 22 adjacent normal tissues resected between October, 2010 and January, 2013 at Nanfang Hospital were examined for claudin-3 expression using immunohistochemistry, which was analyzed in association with the clinicopathological parameters and the survival of the patients...
January 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28108880/unusual-signal-patterns-of-break-apart-fish-probes-used-in-the-diagnosis-of-soft-tissue-sarcomas
#2
Gergő Papp, Dóra Mihály, Zoltán Sápi
Break-apart FISH probes are the most popular and reliable type of FISH probes used to confirm certain pathological diagnoses. The interpretation is usually easy, however, in some instances it is not so unequivocal. Our aim was to reveal and elucidate the problems occurring in the process of evaluation of the break-apart probe results. Altogether 301 soft tissue sarcomas with confirmed molecular tests using break-apart probes were assessed to reveal the frequency and type of unusual signal pattern. Among 89 synovial sarcoma (SS18) 11%, 12 alveolar rhabdomyosarcoma (FOXO1) 50%, 53 myxoid liposarcoma (DDIT3) 7...
January 20, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28108699/an-evaluation-study-of-the-becton-dickinson-probetec-qx-bdqx-trichomonas-vaginalis-trichomoniasis-molecular-diagnostic-test-in-two-large-urban-std-services
#3
Craig Tipple, Michael Rayment, Sundhiya Mandalia, Lisa Walton, Sinead O'Neill, John Murray, Alan O'Riordan, Monica Rebec, Laura Harrington, Rachael Jones, Dawn Wilkinson
OBJECTIVES: The BASHH guidelines recommend molecular tests to aid diagnosis of Trichomonas vaginalis (TV) infection; however many clinics continue to use relatively insensitive techniques (pH, wet-prep microscopy (WPM) and culture). Our objectives were to establish a laboratory pathway for TV testing with the Becton-Dickinson Qx (BDQx) molecular assay, to determine TV prevalence and to identify variables associated with TV detection. METHODS: A prospective study of 901 women attending two urban sexual health services for STI testing was conducted...
January 20, 2017: Sexually Transmitted Infections
https://www.readbyqxmd.com/read/28107736/crystal-structures-binding-interactions-and-adme-evaluation-of-brain-penetrant-n-substituted-indazole-5-carboxamides-as-subnanomolar-selective-monoamine-oxidase-b-and-dual-mao-a-b-inhibitors
#4
Nikolay T Tzvetkov, Hans-Georg Stammler, Beate Neumann, Silvia Hristova, Liudmil Antonov, Marcus Gastreich
The pharmacological and physicochemical analysis of structurally optimized N-alkyl-substituted indazole-5-carboxamides, developed as potential drug and radioligand candidates for the treatment and diagnosis of Parkinson's disease (PD) and other neurological disorders, is reported. Recent efforts have been focused on the development of subnanomolar potent, selective MAO-B (N1-alkyl-substituted compounds 12a-14a and 15) and dual active MAO-A/B (N2-methylated compounds 12b-14b) inhibitors with nanomolar potency towards MAO-B and moderately active against MAO-A enzyme, respectively...
January 11, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28107671/recent-sequence-variation-in-probe-binding-site-affected-detection-of-respiratory-syncytial-virus-group-b-by-real-time-rt-pcr
#5
Everlyn Kamau, Charles N Agoti, Clement S Lewa, John Oketch, Betty E Owor, Grieven P Otieno, Anne Bett, Patricia A Cane, D James Nokes
BACKGROUND: Direct immuno-fluorescence test (IFAT) and multiplex real-time RT-PCR have been central to RSV diagnosis in Kilifi, Kenya. Recently, these two methods showed discrepancies with an increasing number of PCR undetectable RSV-B viruses. OBJECTIVES: Establish if mismatches in the primer and probe binding sites could have reduced real-time RT-PCR sensitivity. STUDY DESIGN: Nucleoprotein (N) and glycoprotein (G) genes were sequenced for real-time RT-PCR positive and negative samples...
January 5, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28107175/long-non-coding-rnas-potential-molecular-biomarkers-for-gliomas-diagnosis-and-prognosis
#6
Lei Wang, Zhengtao Yu, Shaiqi Sun, Jun Peng, Rongjun Xiao, Shengpan Chen, Xiaokun Zuo, Quan Cheng, Ying Xia
The current grade classification system of gliomas is based on the histopathological features of these tumors and has great significance in defining groups of patients for clinical assessment. However, this classification system is also associated with a number of limitations, and as such, additional clinical assessment criteria are required. Long non-coding RNAs (lncRNAs) play a critical role in cellular functions and are currently regarded as potential biomarkers for glioma diagnosis and prognosis. Therefore, the molecular classification of glioma based on lncRNA expression may provide additional information to assist in the systematic identification of glioma...
January 20, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/28106714/a-promising-future-for-prostate-cancer-diagnostics
#7
EDITORIAL
Stephen J Assinder, Vanitha Bhoopalan
It has been estimated that globally there is a death attributable to prostate cancer every four minutes. As life expectancy in all world regions increases, so too incidence of this disease of the ageing male will increase. For many men diagnosis occurs after presentation with symptoms of altered urinary dynamics. Unfortunately, these changes, whilst also associated with benign disease, are evident quite late in the aetiology of prostate cancer. Early detection provides for better management and prognosis. This Special Issue provides an up to date view of the advances made towards early diagnosis and prognosis...
January 17, 2017: Diagnostics
https://www.readbyqxmd.com/read/28106659/adenoid-cystic-carcinoma-evaluation-and-management-progress-with-optimism
#8
Patrick J Bradley
PURPOSE OF REVIEW: Adenoid cystic carcinoma (ACC) when diagnosed presents several diagnostic and treatment challenges. The standard treatment of surgery and postoperative radiotherapy has remained the standard of care for the past 3 decades. The purpose of this review is to update what's been reported and what's new since the last review in 2004. RECENT FINDINGS: As accurate a histological diagnosis and staging of disease should be achieved prior to commencing any treatment...
January 18, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28105922/differential-expression-of-alternatively-spliced-transcripts-related-to-energy-metabolism-in-colorectal-cancer
#9
Anastasiya Vladimirovna Snezhkina, George Sergeevich Krasnov, Andrew Rostislavovich Zaretsky, Alex Zhavoronkov, Kirill Mikhailovich Nyushko, Alexey Alexandrovich Moskalev, Irina Yurievna Karpova, Anastasiya Isaevna Afremova, Anastasiya Valerievna Lipatova, Dmitriy Vladimitovich Kochetkov, Maria Sergeena Fedorova, Nadezhda Nikolaevna Volchenko, Asiya Fayazovna Sadritdinova, Nataliya Vladimirovna Melnikova, Dmitry Vladimirovich Sidorov, Anatoly Yurievich Popov, Dmitry Valerievich Kalinin, Andrey Dmitrievich Kaprin, Boris Yakovlevich Alekseev, Alexey Alexandrovich Dmitriev, Anna Viktorovna Kudryavtseva
BACKGROUND: Colorectal cancer (CRC) is one of the most common malignant tumors worldwide. CRC molecular pathogenesis is heterogeneous and may be followed by mutations in oncogenes and tumor suppressor genes, chromosomal and microsatellite instability, alternative splicing alterations, hypermethylation of CpG islands, oxidative stress, impairment of different signaling pathways and energy metabolism. In the present work, we have studied the alterations of alternative splicing patterns of genes related to energy metabolism in CRC...
December 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/28105789/pdgfra-amplification-in-multiple-skin-lesions-of-undifferentiated-pleomorphic-sarcoma-ups-a-clue-for-intimal-sarcoma-metastases
#10
A Osio, M-D Vignon-Pennamen, F Pedeutour, C Le Maignan, F Koskas, C Lebbé, A Janin, M Battistella
A 62-year-old HIV-positive man was admitted for multiple cutaneous and subcutaneous nodules on his lower limbs, corresponding to an undifferentiated proliferation of spindle and pleomorphic cells, with irregular nuclei and numerous mitoses. The tumor cells were negative for a large panel of immunohistochemical markers, except CD10. MDM2 immunohistochemical staining was also negative, leading to the diagnosis of FNCLCC grade III Undifferentiated Pleomorphic Sarcoma (UPS). aCGH showed a highly complex karyotype, with amplification of the 4q12 region, an area that contains only the PDGFRa gene...
January 20, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28105615/-improvement-of-prognostic-and-predictive-network-of-colorectal-cancer-based-upon-the-8th-edition-of-ajcc-colorectal-cancer-staging-system
#11
Hongwei Yao, Hongwei Wu, Yinhua Liu
The 8th edition of AJCC cancer staging system will be launched all over the world in January 1, 2018. The major advances in the 8th edition are the introduction of non-anatomic prognostic and predictive factors supported by I(-II( grade evidence based on histopathology and molecular biology, and the improvement of prognostic assessment system based on these factors, including CEA level, cancer retraction score, circumference margin, lymphatic invasion, peripheral nerve invasion, microsatellite instability, KRAS/NRAS gene mutation and BRAF gene mutation...
January 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28105575/bongkrekic-acid-a-review-of-a-lesser-known-mitochondrial-toxin
#12
REVIEW
Mehruba Anwar, Amelia Kasper, Alaina R Steck, Joshua G Schier
INTRODUCTION: Bongkrekic acid (BA) has a unique mechanism of toxicity among the mitochondrial toxins: it inhibits adenine nucleotide translocase (ANT) rather than the electron transport chain. Bongkrekic acid is produced by the bacterium Burkholderia gladioli pathovar cocovenenans (B. cocovenenans) which has been implicated in outbreaks of food-borne illness involving coconut- and corn-based products in Indonesia and China. Our objective was to summarize what is known about the epidemiology, exposure sources, toxicokinetics, pathophysiology, clinical presentation, and diagnosis and treatment of human BA poisoning...
January 19, 2017: Journal of Medical Toxicology: Official Journal of the American College of Medical Toxicology
https://www.readbyqxmd.com/read/28105569/the-spectrum-of-niemann-pick-type-c-disease-in-greece
#13
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, Lilia Lycopoulou, Sevasti Bostantjopoulou, Dimitrios Zafeiriou, Helen Michelakakis
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the NPC1 and the NPC2 genes. We present the clinical, biochemical, and molecular findings in 14 cases diagnosed in Greece during the last 28 years...
January 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28105480/-cardiac-remodeling-after-myocardial-infarction-clinical-practice-update
#14
G Ertl, S Brenner, C E Angermann
Heart failure remains a frequent cause of death and is the leading reason for hospitalization in Germany although therapeutic options have significantly increased over the past years particularly in heart failure with reduced ejection fraction. Clinical symptoms are usually preceded by cardiac remodeling, which was originally defined only by left ventricular dilatation and depressed function but is also associated with typical cellular and molecular processes. Healing after acute myocardial infarction is characterized by inflammation, cellular migration and scar formation...
January 19, 2017: Herz
https://www.readbyqxmd.com/read/28105368/clinical-and-immunologic-correlates-of-response-to-pd-1-blockade-in-a-patient-with-metastatic-renal-medullary-carcinoma
#15
Kathryn E Beckermann, Pradeep C Jolly, Ju Y Kim, Jennifer Bordeaux, Igor Puzanov, W Kimryn Rathmell, Douglas B Johnson
BACKGROUND: Renal medullary carcinoma (RMC) is a rare kidney tumor that occurs in adolescent and young adults, typically in association with sickle cell trait. RMC exhibits rapid disease progression, frequent metastases at diagnosis, and dismal clinical outcomes. Currently available therapies, including cisplatin-based combination chemotherapy, multi-tyrosine kinase, and mTOR inhibitor strategies demonstrate either transient responses or minimal activity. Therefore, further molecular characterization and additional treatment strategies are urgently needed in this aggressive disease...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28104544/molecular-genetics-of-familial-hypercholesterolemia-in-israel-revisited
#16
Ronen Durst, Uche Ken Ibe, Shoshi Shpitzen, Daniel Schurr, Osnat Eliav, Marta Futema, Ros Whittall, Auryan Szalat, Vardiella Meiner, Hilla Knobler, Dov Gavish, Yaakov Henkin, Avishay Ellis, Ardon Rubinstein, Dror Harats, Rafael Bitzur, Bruno Hershkovitz, Steve E Humphries, Eran Leitersdorf
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9). The purpose of the current investigation was to define the current spectrum of mutations causing FH in Israel. METHODS: New families were collected through the MEDPED (Make Early Diagnosis Prevent Early Death) FH program. Molecular analysis of the LDLR, PCSK9 and APOB genes was done using High Resolution Melt and direct sequencing in 67 index cases...
December 18, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28104284/-fabry-disease
#17
F Stephan, R Haber
Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or partial deficiency of the lysosomal hydrolase, alpha-galactosidase A. From the youngest age, it results in a gradual ubiquitous build-up of glycosphingolipids that are not degraded by the missing enzyme. Cutaneous, neurological, nephrologic, cardiac, gastrointestinal, ophthalmological, respiratory, cochleovestibular and haematological involvement are responsible for increased mortality and significant impairment of quality of life in subjects affected by the disease...
January 16, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28103204/transthoracic-ultrasonography-for-the-immunocompromised-patient-a-pilot-project-that-introduces-transthoracic-ultrasonography-for-the-follow-up-of-hematological-patients-in-romania
#18
Ioana Frinc, Petru Ilies, Florin Zaharie, Delia Dima, Alina Tanase, Ljubomir Petrov, Alexandru Irimie, Cristian Berce, Cosmin Lisencu, Ioana Berindan-Neagoe, Ciprian Tomuleasa, Anca Bojan
In the last decade, there is significant progress in clinical hematology with the discovery of targeted molecules and thus the achievement of both hematologic and molecular responses. Nevertheless, chemotherapy remains the treatment of choice for many types of hematological malignancies. Aggressive chemotherapy leads to immunosuppression, accompanied by a high rate of infections and an increased rate of treatment-related mortality. Invasive fungal infections, as well as more common bacterial and viral infections are frequent in immunocompromised patients as they are difficult to diagnose and treat...
January 18, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28101801/identification-of-changes-in-the-human-papilloma-virus-16-hpv16-genome-during-early-dissemination-of-cervical-cancer-cells-may-complement-histological-diagnosis-of-lymph-node-metastasis
#19
Anirban Roychowdhury, Sudip Samadder, Md Saimul Islam, Kalyansree Chaudhury, Anup Roy, Dipanwita Banerjee, Ranajit Mandal, Partha S Basu, Susanta Roychoudhury, Chinmay Kumar Panda
Cancer of the uterine cervix (CACX) is one of the most common carcinoma affecting women worldwide. During treatment, histologically lymph node (LN) metastasis and presence of HPV DNA in blood plasma act as a major prognostic factor. Despite the lack of apparent LN involvement, some early-invasive CACX patients have shown recurrences and poor survival. This is suggestive of undetected early dissemination of cancer cells characterized by presence of HPV DNA in histologically non-metastatic LNs which finally progresses into histologically visible metastasis...
January 19, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28101780/update-of-the-spectrum-of-mucopolysaccharidoses-type-iii-in-tunisia-identification-of-three-novel-mutations-and-in-silico-structural-analysis-of-the-missense-mutations
#20
Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). METHODS: In this study, we have performed the molecular analysis of the SGSH, NAGLU and HGSNAT genes in 10 patients from 6 different MPS III Tunisian families...
January 19, 2017: World Journal of Pediatrics: WJP
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