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Molecular Diagnosis

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https://www.readbyqxmd.com/read/29156877/comparison-of-microscopy-elisa-and-real-time-pcr-for-detection-of-giardia-intestinalis-in-human-stool-specimens
#1
Yunus Emre Beyhan, Zeynep Taş Cengiz
Background/aim: This study included patients who had digestive system complaints between August 2015 and October 2015. The research was designed to compare conventional microscopy with an antigen detection ELISA kit and the TaqMan-based real-time PCR (RT-PCR) technique for detection of Giardia intestinalis in human stool specimens. Materials and methods: Samples were concentrated by formalin-ether sedimentation technique and microscopic examinations were carried out on wet mount slides. A commercially available ELISA kit (Giardia CELISA, Cellabs, Brookvale, Australia) was used for immunoassay...
August 23, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29156804/hotair-regulates-hk2-expression-by-binding-endogenous-mir-125-and-mir-143-in-oesophageal-squamous-cell-carcinoma-progression
#2
Jian Ma, Yanxin Fan, Tingting Feng, Fangjun Chen, Zhipeng Xu, Suqing Li, Qingfeng Lin, Xiaoting He, Weihong Shi, Yang Liu, Xiufeng Cao, Bin Zhu, Zhihua Liu
Esophageal Squamous Cell Carcinoma (ESCC) is one of the most common malignant cancers worldwide with a high death rate worldwide. Long non-coding RNA (LncRNA) has been recently demonstrated to play a critical role in ESCC. LncRNA HOTAIR played important regulatory roles in ESCC. We highlight the molecular mechanisms by which HOTAIR could influence the expression of Hexokinase 2 (HK2) in ESCC through binding miR-125 and miR-143 directly. Taken together, this study identified a functional lncRNA HOTAIR involved with regulation of glycolysis via miRNA-125/miRNA-143-HK2 in ESCC cells...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156734/pax3d-mrna-over-2-76-copies-%C3%A2%C2%B5l-in-the-bloodstream-predicts-cutaneous-malignant-melanoma-relapse
#3
Chiara Autilio, Carmela Paolillo, Maria Michela Lavieri, Krizia Pocino, Elisa De Paolis, Enrico Di Stasio, Paolo Marchetti, Cappellini Antonini Gian Carlo, Ettore Capoluongo
Objective: The aim of this study was to evaluate if our molecular algorithm, based on tumor circulating transcripts, may predict relapse risk in cutaneous malignant melanoma (CMM). Results: The multi-marker panel was able to differentiate patients with CMM from HC with high diagnostic sensitivity and specificity, especially for MITF-m and TGFB2 (91-100%) whose levels decreased during follow-up of recurrence-free patients, and remained stable in the case of relapse...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156294/phospholipase-a1-based-cross-reactivity-among-venoms-of-clinically-relevant-hymenoptera-from-neotropical-and-temperate-regions
#4
Amilcar Perez-Riverol, Luís Gustavo Romani Fernandes, Alexis Musacchio Lasa, José Roberto Aparecido Dos Santos-Pinto, Débora Moitinho Abram, Gabriel Hideki Izuka Moraes, Frederic Jabs, Michaela Miehe, Henning Seismman, Mario Sergio Palma, Ricardo de Lima Zollner, Edzard Spillner, Márcia Regina Brochetto-Braga
Molecular cross-reactivity caused by allergen homology or cross-reactive carbohydrate determinants (CCDs) is a major challenge for diagnosis and immunotherapy of insect venom allergy. Venom phospholipases A1 (PLA1s) are classical, mostly non-glycosylated wasp and ant allergens that provide diagnostic benefit for differentiation of genuine sensitizations from cross-reactivity. As CCD-free molecules, venom PLA1s are not causative for CCD-based cross-reactivity. Little is known however about the protein-based cross-reactivity of PLA1 within vespid species...
November 17, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/29156202/relapsed-acute-lymphoblastic-leukemia-is-it-crucial-to-achieve-molecular-remission-prior-to-transplant
#5
REVIEW
Mary Eapen
In patients with acute lymphoblastic leukemia (ALL) the risk of recurrent leukemia influences the choice of treatment between chemotherapy and allogeneic hematopoietic cell transplantation. The evaluation of minimal residual disease (MRD) is now considered to be the greatest progress in risk stratification in regard to leukemia recurrence. Achieving molecular remission at the end of induction therapy after diagnosis or after relapse has influenced treatment choice. Failure to achieve molecular remission is considered "high risk" and allogeneic hematopoietic cell transplantation with a suitable donor, the accepted standard...
December 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29155650/assessment-of-national-public-health-and-reference-laboratory-accra-ghana-within-framework-of-global-health-security
#6
Adaeze Ogee-Nwankwo, David Opare, Gifty Boateng, Mawuli Nyaku, Lia M Haynes, S Arunmozhi Balajee, Laura Conklin, Joseph P Icenogle, Paul A Rota, Diane Waku-Kouomou
The Second Year of Life project of the Global Health Security Agenda aims to improve immunization systems and strengthen measles and rubella surveillance, including building laboratory capacity. A new laboratory assessment tool was developed by the Centers for Disease Control and Prevention to assess the national laboratory in Ghana to improve molecular surveillance for measles and rubella. Results for the tool showed that the laboratory is well organized, has a good capacity for handling specimens, has a good biosafety system, and is proficient for diagnosis of measles and rubella by serologic analysis...
December 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29155280/molecular-analysis-of-tick-borne-protozoan-and-rickettsial-pathogens-in-small-ruminants-from-two-south-african-provinces
#7
Aaron Edmond Ringo, Paul Franck Adjou Moumouni, Moeti Taioe, Charoonluk Jirapattharasate, Mingming Liu, Guanbo Wang, Yang Gao, Huanping Guo, Seung-Hun Lee, Weiqing Zheng, Artemis Efstratiou, Jixu Li, Noboru Inoue, Hiroshi Suzuki, Oriel Thekisoe, Xuenan Xuan
Tick-borne protozoan and rickettsial diseases are a major threat to livestock in tropical and sub-tropical regions of Africa. In this study we investigated the presence and distribution of Theileria spp., Babesia ovis, Anaplasma ovis, Anaplasma phagocytophilum, Ehrlichia ruminantium and SFG Rickettsia in sheep and goats from Free State and KwaZulu-Natal provinces. A total of 91 blood samples were screened in this study, 61 from goats and 30 from sheep. PCR assay was conducted using primers based on Theileria spp...
November 15, 2017: Parasitology International
https://www.readbyqxmd.com/read/29155047/novel-mosaic-variants-in-two-patients-with-cornelia-de-lange-syndrome
#8
Jelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, Sara Ruiz Gil, Erwan Watrin, Kerstin S Wendt, Ralf Werner, Tim M Strom, Gabriele Gillessen-Kaesbach, Frank J Kaiser
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Here we discuss the role of somatic mosaicism in CdLS and describe two additional patients with NIPBL mosaicism detected by targeted gene panel or exome sequencing...
November 15, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29155023/therapy-related-myeloid-neoplasm-in-an-18-year-old-boy-with-b-lymphoblastic-leukemia
#9
Xin Qing, Eduard Panosyan, ChangjunYue, Ping Ji, Moran Gotesman, Samuel French, Junchao Cai
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Acute myeloid leukemia or myelodysplastic syndrome during the course of ALL is a rare entity. Some of these cases are therapy-related while the others occur due to lineage switch. The correct diagnosis relies on comparing the immunophenotypes and cytogenetic/molecular alterations of the myeloid neoplasm and the ALL. We present the clinical, pathologic and cytogenetic features of a case of an 18-year-old male with prior treatment for B-lymphoblastic leukemia (B-ALL) who developed therapy-related myeloid neoplasm (t-MN) 4-5years after his initial diagnosis of B-ALL...
November 16, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29154992/structural-and-biophysical-characterization-of-rv3716c-a-hypothetical-protein-from-mycobacterium-tuberculosis
#10
A Gopalan, G Deka, M Prabhavathi, H S Savithri, M R N Murthy, A Raja
Latent tuberculosis (TB) is the main hurdle in reaching the goal of "Stop TB 2050". Tuberculin skin and Interferon-gamma release assay tests used currently for the diagnosis of TB infection cannot distinguish between active disease and latent tuberculosis infection (LTBI) and hence new and sensitive protein markers need to be identified for the diagnosis. A protein Rv3716c from Mycobacterium tuberculosis (MtbRv3716c) has been identified as a potential surrogate marker for the diagnosis of LTBI. Here, we present characterization of MtbRv3716c (∼13 kDa) using both biophysical and X-Ray crystallographic methods...
November 15, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29154377/tall-cell-variant-of-papillary-breast-carcinoma-an-additional-case-with-review-of-the-literature
#11
A Pitino, S Squillaci, C Spairani, P C Rassu, M F Cosimi
Papillary lesions of the breast can be one of the most challenging aspects of mammary pathology because of a wide morphologic spectrum that may be encountered in these lesions. An unusual breast tumor has been first classified as "breast tumor resembling the tall cell variant of papillary thyroid carcinoma" and subsequently renamed "tall cell variant of papillary breast carcinoma". To our knowledge, only 13 cases of this neoplasm have been reported so far. Metastasis to the breast is not an uncommon event and about 5% of all such cases are of the thyroid origin...
September 2017: Pathologica
https://www.readbyqxmd.com/read/29154141/novel-genes-associated-with-amyotrophic-lateral-sclerosis-diagnostic-and-clinical-implications
#12
REVIEW
Ruth Chia, Adriano Chiò, Bryan J Traynor
BACKGROUND: The disease course of amyotrophic lateral sclerosis (ALS) is rapid and, because its pathophysiology is unclear, few effective treatments are available. Genetic research aims to understand the underlying mechanisms of ALS and identify potential therapeutic targets. The first gene associated with ALS was SOD1, identified in 1993 and, by early 2014, more than 20 genes had been identified as causative of, or highly associated with, ALS. These genetic discoveries have identified key disease pathways that are therapeutically testable and could potentially lead to the development of better treatments for people with ALS...
November 16, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/29153887/-gallbladder-metastasis-of-melanoma-immunohistochemical-and-molecular-data-of-a-case-and-review-of-the-literature
#13
Arnault Tauziède-Espariat, Johnny Raffoul, Shan-Rong Sun, Christine Monnin, Arnaud de la Fouchardière, Catherine Lassabe
We report the case of a 57-year-old man, who is hospitalized for the surgery of a gallbladder mass associated by an increase in fluorodeoxyglucose-activity on positron emission tomography/computed tomography scan. This is an incidental finding occurring during monitoring of a skin melanoma. A cholecystectomy is performed. Microscopic examination identified an infiltration of the gallbladder wall by a proliferation of atypical pigmented spindled melanocytes with numerous mitoses. The immunohistochemical analysis confirmed the melanocytic nature of this proliferation with the staining of HMB-45, S100 protein and Melan-A...
November 16, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/29153840/association-of-omics-features-with-histopathology-patterns-in-lung-adenocarcinoma
#14
Kun-Hsing Yu, Gerald J Berry, Daniel L Rubin, Christopher Ré, Russ B Altman, Michael Snyder
Adenocarcinoma accounts for more than 40% of lung malignancy, and microscopic pathology evaluation is indispensable for its diagnosis. However, how histopathology findings relate to molecular abnormalities remains largely unknown. Here, we obtained H&E-stained whole-slide histopathology images, pathology reports, RNA sequencing, and proteomics data of 538 lung adenocarcinoma patients from The Cancer Genome Atlas and used these to identify molecular pathways associated with histopathology patterns. We report cell-cycle regulation and nucleotide binding pathways underpinning tumor cell dedifferentiation, and we predicted histology grade using transcriptomics and proteomics signatures (area under curve >0...
November 13, 2017: Cell Systems
https://www.readbyqxmd.com/read/29153781/genetic-epidemiology-of-autosomal-recessive-hypercholesterolemia-in-sicily-identification-by-next-generation-sequencing-of-a-new-kindred
#15
Rossella Spina, Davide Noto, Carlo M Barbagallo, Roberto Monastero, Valeria Ingrassia, Vincenza Valenti, Roberta Baschi, Antonina Pipitone, Antonina Giammanco, Maria P La Spada, Gabriella Misiano, Chiara Scrimali, Angelo B Cefalù, Maurizio R Averna
BACKGROUND: Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor adaptor protein 1 gene. Fourteen different mutations have been reported so far; in Sardinia, 2 alleles (ARH1 and ARH2) explain most of the cases. Four ARH patients, all carriers of the ARH1 mutation, have been identified in mainland Italy and 2 in Sicily...
October 27, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29153417/the-efficacy-of-transbronchial-needle-aspiration-with-endobronchial-ultrasonography-using-a-guide-sheath-for-peripheral-pulmonary-lesions-suspected-to-be-lung-cancer
#16
Ken Arimura, Yasuo Sekine, Kenzo Hiroshima, Akitoshi Sato, Mizue Hasegawa, Hideki Katsura, Etsuko Tagaya, Mitsuko Kondo, Jun Tamaoki
BACKGROUND: The efficacy of transbronchial needle aspiration (TBNA) with endobronchial ultrasonography using a guide sheath (EBUS-GS) for cases of peripheral pulmonary lesions (PPLs) has not been well established. The purpose of this study was to evaluate the efficacy of TBNA with EBUS-GS for PPLs. METHODS: We evaluated 130 patients suspected to have lung cancer who underwent transbronchial brushing (brushing), transbronchial biopsy (TBB), and TBNA with EBUS-GS...
November 2017: Respiratory Investigation
https://www.readbyqxmd.com/read/29153091/detection-of-complex-genomic-signatures-associated-with-risk-in-plasma-cell-disorders
#17
Nadine K Berry, Amanda Dixon-McIver, Rodney J Scott, Philip Rowlings, Anoop K Enjeti
Plasma cell disorders (PCD) range from benign to highly malignant disease. The ability to detect risk-stratifying aberrations based on cytogenetic and molecular genetic assays plays an increasing role in therapeutic decision making. In this study, 58 patients were chosen for screening by comparative genomic hybridisation microarray (aCGH) to identify the new high-risk prognostic markers of chromothripsis and chromoanasynthesis. All patients had an unequivocal clinical diagnosis of a plasma cell disorder (plasma cell myeloma (PCM)(n = 51) or monoclonal gammopathy of undetermined significance (MGUS)(n = 7)) and an abnormal FISH result...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153070/-the-importance-of-the-contribution-of-rapid-test-serological-and-molecular-methods-in-the-diagnosis-of-two-imported-malaria-cases-with-atypical-microscopy
#18
Orçun Zorbozan, Hüsnü Pullukçu, Esra Atalay Şahar, Muhammet Karakavuk, Hüseyin Can, Varol Tunali, Mert Döşkaya, Nevin Turgay, Seray Töz, Ahmet Özbilgin
Malaria is a widespread and life-threatening disease in tropical and subtropical regions. In patients with typical clinical symptoms, malaria is considered as a preliminary diagnosis if there is a travel history to malaria-endemic areas. The basis of the laboratory diagnosis of malaria is the microscopic examination of Giemsa stained smears. On the other hand, the diagnosis and differentiation of Plasmodium species with microscopic examination may have some difficulties. In the first case, adifferent appearance from the classical Plasmodium vivax erythrocytic forms in infected erythrocytes were detected in 1% of all erythrocytes in thin smear blood preparations of a 26-year-old male with complaints of fever and chills and a story of travel to Nigeria...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29153067/-detection-of-influenza-virus-infections-by-molecular-and-immunofluorescence-methods
#19
Deniz Yıldırım, Deniz Özdoğru Sağdıç, Buket Şeflek, Mehmet Çimentepe, İbrahim Bayram, Fügen Yarkın
Influenza virus infections are extremely important for human health due to the occurence of seasonal epidemics and pandemics worldwide. Influenza is associated with high morbidity and may result in serious complications such as life threatening viral or bacterial pneumonia. Especially, young children, older adults, patients with chronic diseases such as heart, lung, kidney, and diabetes and immunosuppressed people are at higher risk for complications and death from influenza virus infections. The aim of this study was to determine the incidence of influenza type A and B virus infections and influenza A virus subtypes in hospitalized patients with respiratory tract infections by real-time reverse transcriptase-polymerase chain reaction (RT-PCR, Sacace, Italy), conventional RT-PCR and direct immunofluorescence antibody (DFA, Argene SA, France) tests...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29153065/-genotypes-of-rhinoviruses-in-children-and-adults-patients-with-acute-respiratory-tract-infections
#20
Eda Demirkan, Sevin Kırdar, Emel Ceylan, Ayşe Yenigün, İmran Kurt Ömürlü
Rhinovirus (RV) is one of the most frequent causative agent of acute respiratory tract infections in the world. The virus may cause a mild cold, as well as more serious clinical symptoms in patients with immune system deficiency or comorbidities. Rhinoviruses have been identified by molecular methods under three types: RV-A, RV-B and RV-C. In most of the cases, it was reported that RV-A and RV-C were related with lower respiratory tract infections and asthma exacerbations, while RV-B was rarely reported in lower respiratory tract infections...
October 2017: Mikrobiyoloji Bülteni
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