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Molecular Diagnosis

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https://www.readbyqxmd.com/read/28449421/-the-role-of-micrornas-in-colorectal-cancer
#1
REVIEW
Sang Wook Kim
Colorectal cancer (CRC) is one of the leading causes of cancer related deaths in the world. Many oncogenes and tumor suppressor genes are involved in the development of CRC. MicroRNAs (miRNAs) are a class of small, non-coding, endogenous RNAs in animals and plants. Recent studies have shown that miRNAs are associated with the mediation process of tumorigenesis, including inflammation, cell cycle, stress response, differentiation, apoptosis, migration, and invasion in cancer. These miRNAs have been linked to the development of CRC and recently studied as new potential biomarkers in the diagnosis and treatment for CRC...
April 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28449420/cytological-features-of-warthin-like-papillary-thyroid-carcinoma-a-case-report-with-review-of-previous-cytology-cases
#2
Archana George Vallonthaiel, Shipra Agarwal, Deepali Jain, Rajni Yadav, Nishikant A Damle
Warthin-like papillary thyroid carcinoma (WLPTC) is a rare morphological variant of papillary thyroid carcinoma which mimics various benign and malignant lesions on thyroid aspiration cytology. As correct cytological diagnosis is the cornerstone for appropriate patient management, awareness of the salient cytomorphological characteristics of this tumor is essential. Here, we present cytological features of a case of WLPTC along with discussion of the common differential diagnoses and a brief review of the literature to ascertain the most consistent cytological findings of WLPTC...
April 27, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28448960/utility-of-genomic-analysis-in-differentiating-synchronous-and-metachronous-lung-adenocarcinomas-from-primary-adenocarcinomas-with-intrapulmonary-metastasis
#3
Jad Saab, Hamid Zia, Susan Mathew, Michael Kluk, Navneet Narula, Helen Fernandes
Distinguishing synchronous and metachronous primary lung adenocarcinomas from adenocarcinomas with intrapulmonary metastasis is essential for optimal patient management. In this study, multiple lung adenocarcinomas occurring in the same patient were evaluated using comprehensive histopathologic evaluation supplemented with molecular analysis. The cohort included 18 patients with a total of 52 lung adenocarcinomas. Eleven patients had a new diagnosis of multiple adenocarcinomas in the same lobe (n=5) or different lobe (n=6)...
April 24, 2017: Translational Oncology
https://www.readbyqxmd.com/read/28448599/simulation-of-the-dynamics-of-primary-immunodeficiencies-in-cd4-t-cells
#4
Gabriel N Teku, Mauno Vihinen
Primary immunodeficiencies (PIDs) form a large and heterogeneous group of mainly rare disorders that affect the immune system. T-cell deficiencies account for about one-tenth of PIDs, most of them being monogenic. Apart from genetic and clinical information, lots of other data are available for PID proteins and genes, including functions and interactions. Thus, it is possible to perform systems biology studies on the effects of PIDs on T-cell physiology and response. To achieve this, we reconstructed a T-cell network model based on literature mining and TPPIN, a previously published core T-cell network, and performed semi-quantitative dynamic network simulations on both normal and T-cell PID failure modes...
2017: PloS One
https://www.readbyqxmd.com/read/28448267/endogenous-thymosin-%C3%AE-4-expression-in-sacrococcygeal-pilonidal-sinus-disease-a-retrospective-immunohistochemical-analysis-of-excisional-skin-biopsy-samples
#5
Sevinc Sahin
Thymosin beta 4 (Tβ4) is a peptide that has been shown in dermal, corneal, and cardiac preclinical injury models to potentially affect tissue protection, regeneration, and repair. Sacrococcygeal pilonidal sinus disease (SPSD) is a chronic inflammatory disorder associated with a high incidence of recurrence, chronic fistulation, and a challenging postoperative surgical wound healing process. Retrospectively, an immunohistochemical analysis was conducted to evaluate endogenous Tβ4 expression in excisional skin biopsies from patients with SPSD...
April 2017: Ostomy/wound Management
https://www.readbyqxmd.com/read/28447336/review-of-recent-molecular-landscape-knowledge-of-gastric-cancer
#6
REVIEW
Dai Shimizu, Mitsuro Kanda, Yasuhiro Kodera
Gastric cancer (GC) is one of the most frequently diagnosed cancers worldwide and its prognosis remains dismal. One reason for poor outcomes of GC patients is that most are diagnosed when the cancer has already advanced. Novel biomarkers with high sensitivity and specificity are needed to diagnose GC in the early stage. In addition, to improve the outcome of patients with GC, patient stratification according to prognostic factors and sensitivity to chemo(radio)therapy are necessary. Appropriate follow-up criteria and individualized treatment will contribute to improvement in prognosis...
April 27, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28447334/-1-h-nmr-1-h-nmr-t2-edited-and-2d-nmr-in-bipolar-disorder-metabolic-profiling
#7
Sumit Sethi, Mariana Pedrini, Lucas B Rizzo, Maiara Zeni-Graiff, Caroline Dal Mas, Ana Cláudia Cassinelli, Mariane N Noto, Elson Asevedo, Quirino Cordeiro, João G M Pontes, Antonio J M Brasil, Acioly Lacerda, Mirian A F Hayashi, Ronei Poppi, Ljubica Tasic, Elisa Brietzke
BACKGROUND: The objective of this study was to identify molecular alterations in the human blood serum related to bipolar disorder, using nuclear magnetic resonance (NMR) spectroscopy and chemometrics. METHODS: Metabolomic profiling, employing (1)H-NMR, (1)H-NMR T2-edited, and 2D-NMR spectroscopy and chemometrics of human blood serum samples from patients with bipolar disorder (n = 26) compared with healthy volunteers (n = 50) was performed. RESULTS: The investigated groups presented distinct metabolic profiles, in which the main differential metabolites found in the serum sample of bipolar disorder patients compared with those from controls were lipids, lipid metabolism-related molecules (choline, myo-inositol), and some amino acids (N-acetyl-L-phenyl alanine, N-acetyl-L-aspartyl-L-glutamic acid, L-glutamine)...
December 2017: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/28447279/multi-modality-molecular-imaging-of-aortic-aneurysms
#8
Brian J Malm, Mehran M Sadeghi
Aneurysms of the thoracic and abdominal aorta are common and can be associated with significant morbidity and mortality when complications, including dissection, rupture, or thrombosis, occur. Current approaches to diagnosis and risk stratification rely on measurements of aneurysm size and rate of growth, often using various imaging modalities, which may be suboptimal in identifying patients at the highest and lowest risk of complications. Targeting the biological processes underlying aneurysm formation and expansion with molecular imaging offers an exciting opportunity to characterize aortic aneurysms beyond size and address current gaps in our approach to diagnosis and treatment...
April 26, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28446767/two-photon-autofluorescence-lifetime-imaging-of-human-skin-papillary-dermis-in-vivo-assessment-of-blood-capillaries-and-structural-proteins-localization
#9
Evgeny A Shirshin, Yury I Gurfinkel, Alexander V Priezzhev, Victor V Fadeev, Juergen Lademann, Maxim E Darvin
The papillary dermis of human skin is responsible for its biomechanical properties and for supply of epidermis with chemicals. Dermis is mainly composed of structural protein molecules, including collagen and elastin, and contains blood capillaries. Connective tissue diseases, as well as cardiovascular complications have manifestations on the molecular level in the papillary dermis (e.g. alteration of collagen I and III content) and in the capillary structure. In this paper we assessed the molecular structure of internal and external regions of skin capillaries using two-photon fluorescence lifetime imaging (FLIM) of endogenous compounds...
April 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28446532/next-generation-sequencing-ngs-analysis-on-single-circulating-tumor-cells-ctcs-with-no-need-of-whole-genome-amplification-wga
#10
Raffaele Palmirotta, Domenica Lovero, Erica Silvestris, Claudia Felici, Davide Quaresmini, Paola Cafforio, Franco Silvestris
BACKGROUND: Isolation and genotyping of circulating tumor cells (CTCs) is gaining an increasing interest by clinical researchers in oncology not only for investigative purposes, but also for concrete application in clinical practice in terms of diagnosis, prognosis and decision treatment with targeted therapies. For the mutational analysis of single CTCs, the most advanced biotechnology methodology currently available includes the combination of whole genome amplification (WGA) followed by next-generation sequencing (NGS)...
May 2017: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/28446320/-advances-in-diagnosis-and-treatment-of-primary-breast-lymphoma-review
#11
Zhong-Ling Wei, Dong-Ping Huang
Primary breast lymphoma(PBL) is a rare and unique type of lymphoma. Female patients are the majority, but its pathogenesis is not clear, and the estrogen may be related with the pathoganesis. Women who have breast implants have more chance to be suffered. The painless breast masses are the most common clinical manifestations, which is similar to breast cancer. Surgical resection of the mass and core needle biopsy are helpful for the diagnosis. The most common pathological type of PBL is diffuse large B cell type, with non GCB type, and it is prone to extranodal relapse in which central nervous system relapse is common which has poor prognosis...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28445812/portable-aptamer-biosensor-of-platelet-derived-growth-factor-bb-using-a-personal-glucose-meter-with-triply-amplified
#12
Lu Hong, Fu Zhou, Dongmin Shi, Xiaojun Zhang, Guangfeng Wang
Sensitive and rapid detection of platelet-derived growth factor BB (PDGF-BB), a cancer-related protein, could help early diagnosis, treatment, and prognosis of cancers. Although some methods have been developed to detect PDGF-BB, few can provide quantitative results using an affordable and portable device that is suitable for home use or field application. In this work, we report the first use of a portable kind of personal glucose meter (PGM) combining a catalytic and molecular beacon (CAMB) system with a cation exchange reaction (CX reaction) for ultrasensitive PDGF-BB assay...
April 19, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28445189/proton-pump-inhibitor-responsive-esophageal-eosinophilia-still-a-valid-diagnosis
#13
Javier Molina-Infante, Pedro L Gonzalez-Cordero, Alfredo J Lucendo
PURPOSE OF REVIEW: To update rapidly evolving concepts regarding the controversial entity of 'proton pump inhibitor (PPI)-responsive esophageal eosinophilia,' referring to patients with clinical, endoscopic and histologic features of eosinophilic esophagitis (EoE) who achieve remission on PPI therapy. RECENT FINDINGS: Up to half of pediatric and adult patients with typical EoE symptoms and histology achieve clinico-pathologic remission on PPI therapy, irrespective of whether esophageal pH monitoring demonstrates abnormal acid reflux...
April 25, 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28445135/micrornas-in-prostate-cancer-an-overview
#14
REVIEW
Daniela Vanacore, Mariarosaria Boccellino, Sabrina Rossetti, Carla Cavaliere, Carmine D'Aniello, Rossella Di Franco, Francesco Jacopo Romano, Micaela Montanari, Elvira La Mantia, Raffaele Piscitelli, Flavia Nocerino, Francesca Cappuccio, Giovanni Grimaldi, Alessandro Izzo, Luigi Castaldo, Maria Filomena Pepe, Maria Gabriella Malzone, Gelsomina Iovane, Gianluca Ametrano, Paola Stiuso, Lucio Quagliuolo, Daniela Barberio, Sisto Perdonà, Paolo Muto, Maurizio Montella, Piera Maiolino, Bianca Maria Veneziani, Gerardo Botti, Michele Caraglia, Gaetano Facchini
Prostate cancer is the second highest cause of cancer mortality after lung tumours. In USA it affects about 2.8 million men and the incidence increases with age in many countries. Therefore, early diagnosis is a very important step for patient clinical evaluation and for a selective and efficient therapy. The study of miRNAs' functions and molecular mechanisms has brought new knowledge in biological processes of cancer. In prostate cancer there is a deregulation of several miRNAs that may function as tumour suppressors or oncogenes...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28444906/carbamoyl-phosphate-synthetase-1-deficiency-diagnosed-by-whole-exome-sequencing
#15
Guoqing Zhang, Yulin Chen, Huiqun Ju, Fei Bei, Jing Li, Jian Wang, Jianhua Sun, Jun Bu
BACKGROUND: Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1. Therefore, the objective of the present study was to investigate the clinical applicability of exome sequencing in molecular diagnosis of CPS1D in Chinese population...
April 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28444814/chronic-antibody-mediated-rejection-in-nonhuman-primate-renal-allografts-validation-of-human-histological-and-molecular-phenotypes
#16
B A Adam, R N Smith, I A Rosales, M Matsunami, B Afzali, T Oura, A B Cosimi, T Kawai, R B Colvin, M Mengel
Molecular testing represents a promising adjunct for the diagnosis of antibody-mediated rejection (AMR). Here we apply a novel gene expression platform in sequential formalin-fixed paraffin-embedded (FFPE) samples from nonhuman primate (NHP) renal transplants. We analyzed 34 previously-described gene transcripts related to AMR in humans in 197 archival NHP samples, including 102 from recipients that developed chronic AMR, 80 from recipients without AMR, and 15 normal native nephrectomies. Three endothelial genes (VWF, DARC, CAV1), derived from 10-fold cross-validation ROC curve analysis, demonstrated excellent discrimination between AMR and non-AMR samples (AUC=0...
April 26, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28444500/metastatic-follicular-thyroid-carcinoma-and-the-primary-thyroid-gross-examination-institutional-review-of-cases-from-1990-to-2015
#17
Krzysztof Glomski, Vania Nosé, William C Faquin, Peter M Sadow
The diagnosis of follicular-patterned carcinomas, including follicular thyroid carcinoma, oncocytic (Hürthle cell) carcinoma, and the encapsulated follicular variant of papillary thyroid carcinoma, requires evidence of capsular and/or vascular invasion. With minimally invasive carcinomas classified often within less than a millimeter of tissue segregating them from adenomas and non-invasive follicular thyroid neoplasms with papillary-like nuclear features, opinions vary internationally over how much of the capsule to submit in order to deem it well enough represented, considering that even if grossly entirely submitted in microcassettes, without leveling through each tissue block, the capsule is truly never entirely examined microscopically...
April 25, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28442529/coinheritance-of-novel-mutations-in-scn1a-causing-gefs-and-in-kdm6a-causing-kabuki-syndrome-in-a-family
#18
Jisun Kim, Cha Gon Lee
Because the differentiation between phenotypic expansion and blended phenotypes is not clear, the mixed phenotypes of blended rare genetic diseases make diagnosis difficult. We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Two novel missense mutations: p.G325A in the KDM6A gene responsible for KS and p...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28442310/copd-osa-overlap-syndrome-evolving-evidence-regarding-epidemiology-clinical-consequences-and-management
#19
REVIEW
Walter T McNicholas
Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea syndrome (OSA) are both highly prevalent, which implies that both disorders occurring together (overlap syndrome) is likely to be common based on chance association alone. However, different clinical COPD phenotypes influence the likelihood of co-existing OSA in that the increased lung volumes and low body mass index (BMI) associated with the predominant emphysema phenotype protects against OSA, whereas the higher likelihood of peripheral edema and increased BMI associated with the predominant chronic bronchitis phenotype promotes OSA...
April 22, 2017: Chest
https://www.readbyqxmd.com/read/28442268/generalized-palisaded-neutrophilic-and-granulomatous-dermatitis-a-cutaneous-manifestation-of-chronic-myelomonocytic-leukemia-a-clinical-histopathological-and-molecular-study-of-three-cases
#20
Birgit Federmann, Irina Bonzheim, Amir S Yazdi, Janine Schmidt, Falko Fend, Gisela Metzler
Palisaded neutrophilic and granulomatous dermatitis (PNGD) is characterized by erythematous papules or plaques on trunk or limbs and is frequently associated with rheumatological, autoimmune or hematological malignancies. Histopathology shows interstitial granulomas composed of epitheloid histiocytes in the reticular dermis with surrounding foci of collagen degeneration and variable neutrophilic inflammation. We report three cases of generalized PNGD associated with chronic myelomonocytic leukemia (CMML), a myelodysplastic/myeloproliferative neoplasm, which may show a variety of cutaneous manifestations...
April 22, 2017: Human Pathology
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