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https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#1
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen, Anna Benet-Pagès, Hans K Schackert, Gisela Keller, Trisari Massdorf, Elke Holinski-Feder
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instability (MSI-H) and loss of MMR protein expression in tumours reflecting a defective MMR are indicators for LS, as well as a positive family history of early onset CRC. MSH2 and MSH6 form a major functional heterodimer, and MSH3 is an alternative binding partner for MSH2...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528458/cardiac-amyloidosis-diagnosis-and-treatment-strategies
#2
REVIEW
Mirela Tuzovic, Eric H Yang, Arnold S Baas, Eugene C Depasquale, Mario C Deng, Daniel Cruz, Gabriel Vorobiof
Cardiac amyloidosis in the United States is most often due to myocardial infiltration by immunoglobulin protein, such as in AL amyloidosis, or by the protein transthyretin, such as in hereditary and senile amyloidosis. Cardiac amyloidosis often portends a poor prognosis especially in patients with systemic AL amyloidosis. Despite better understanding of the pathophysiology of amyloid, many patients are still diagnosed late in the disease course. This review investigates the current understanding and new research on the diagnosis and treatment strategies in patients with cardiac amyloidosis...
July 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28528430/risk-classification-of-highly-sensitive-troponin-i-predict-presence-of-vulnerable-plaque-assessed-by-dual-source-coronary-computed-tomography-angiography
#3
Ting Liu, Guan Wang, Peiling Li, Xu Dai
Patients presenting to the emergency department with acute chest pain, negative conventional troponin and electrocardiogram require serial testing to rule out acute coronary syndrome (ACS). We studied the association of highly sensitive troponin (hsTn) I with vulnerable plaque features as detected by coronary dual source computed tomography angiography (DSCTA) and determined whether hsTn I at the time of presentation combined with early DSCTA could improve classification of patients as high-risk or low risk for ACS...
May 20, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28528418/spatial-distribution-and-temporal-trend-of-anthropogenic-organic-compounds-derived-from-the-2011-east-japan-earthquake
#4
Kaoruko Mizukawa, Yasuko Hirai, Hiroyuki Sakakibara, Satoshi Endo, Keiji Okuda, Hideshige Takada, Naoko Murakami-Sugihara, Kotaro Shirai, Hiroshi Ogawa
The tsunami caused by the Great East Japan Earthquake on March 11, 2011 disturbed coastal environments in the eastern Tohoku region in Japan. Numerous terrestrial materials, including anthropogenic organic compounds, were deposited in the coastal zone. To evaluate the impacts of the disaster, we analyzed PCBs, LABs, PAHs, and hopanes in mussels collected from 12 locations in the east of Tohoku during 2011-2015 (series A) by GC-ECD or GC-MS and compared them with results from mussels collected from 22 locations around Japan during 2001-2004 (series B)...
May 20, 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/28528417/sea-urchin-embryogenesis-as-bioindicators-of-marine-pollution-in-impact-areas-of-the-sea-of-japan-east-sea-and-the-sea-of-okhotsk
#5
Olga N Lukyanova, Elena V Zhuravel, Denis N Chulchekov, Andrey A Mazur
The embryogenesis of the sea urchin sand dollar Scaphechinus mirabilis was used as bioindicators of seawater quality from the impact areas of the Sea of Japan/East Sea (Peter the Great Bay) and the Sea of Okhotsk (northwestern shelf of Sakhalin Island and western shelf of Kamchatka Peninsula). Fertilization membrane formation, first cleavage, blastula formation, gastrulation, and 2-armed and 4-armed pluteus formation have been analyzed and a number of abnormalities were calculated. Number of embryogenesis anomalies in sand dollar larvae exposed to sea water from different stations in Peter the Great Bay corresponds to pollution level at each area...
May 20, 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#6
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28527915/methylparaben-and-butylparaben-alter-multipotent-mesenchymal-stem-cell-fates-towards-adipocyte-lineage
#7
Pan Hu, Haley Overby, Emily Heal, Shu Wang, Jiangang Chen, Chwan-Li Shen, Ling Zhao
Paraben esters and their salts are widely used as preservatives in cosmetics, personal care products, pharmaceuticals, and foods. We previously reported that parabens promoted adipocyte differentiation in vitro and increased adiposity but suppressed serum marker of bone formation in vivo. Here, we investigated the effects of parabens (methylparaben and butylparaben) on modulating cell fate of multipotent stem cell line C3H10T1/2. Both parabens modulated adipogenic, osteogenic, and chondrogenic differentiation of C3H10T1/2 cells in vitro...
May 17, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28527899/egfr-mutation-analysis-for-prospective-patient-selection-in-two-phase-ii-registration-studies-of-osimertinib
#8
Suzanne Jenkins, James Chih-Hsin Yang, Pasi A Jänne, Kenneth S Thress, Karen Yu, Rachel Hodge, Susie Weston, Simon Dearden, Sabina Patel, Mireille Cantarini, Frances A Shepherd
INTRODUCTION: Osimertinib is an oral, CNS active, epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) for the treatment of EGFR T790M-positive advanced non-small cell lung cancer (NSCLC). Here we evaluate EGFR mutation frequencies in two Phase II studies of osimertinib (AURA extension and AURA2). METHODS: Patients with EGFR mutation-positive advanced NSCLC provided tumor samples following progression on their latest line of therapy for mandatory central T790M testing for study selection criteria...
May 17, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28527892/outbreak-of-zika-virus-infection-in-singapore-an-epidemiological-entomological-virological-and-clinical-analysis
#9
(no author information available yet)
BACKGROUND: An outbreak of Zika virus infection was detected in Singapore in August, 2016. We report the first comprehensive analysis of a national response to an outbreak of Zika virus infection in Asia. METHODS: In the first phase of the outbreak, patients with suspected Zika virus infection were isolated in two national referral hospitals until their serum tested negative for the virus. Enhanced vector control and community engagement measures were deployed in disease clusters, including stepped-up mosquito larvicide and adulticide use, community participation in source reduction (destruction of mosquito breeding sites), and work with the local media to promote awareness of the outbreak...
May 17, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28527889/enhanced-cardiomyogenic-induction-of-mouse-pluripotent-cells-by-cyclic-mechanical-stretch
#10
Akankshya Shradhanjali, Brandon D Riehl, Jeong Soon Lee, Ligyeom Ha, Jung Yul Lim
The cardiac milieu is mechanically active with spontaneous contraction beginning from early development and persistent through maturation and homeostasis, suggesting that mechanical loading may provide biomimetic myocardial developmental signal. In this study, we tested the role of cyclic mechanical stretch loading in the cardiomyogenesis of pluripotent murine embryonic (P19) stem cells. A Flexcell tension system was utilized to apply equiaxial stretch (12% strain, 1.25 Hz frequency) to P19 cell-derived embryoid bodies (EBs)...
May 17, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28527886/immuno-pcr-a-new-technique-for-the-serodiagnosis-of-tuberculosis
#11
REVIEW
Promod K Mehta, Bhawna Dahiya, Suman Sharma, Netrapal Singh, Renu Dharra, Zoozeal Thakur, Neeru Mehta, Krishna B Gupta, Mahesh C Gupta, Dhruva Chaudhary
Rapid and accurate diagnosis of tuberculosis (TB) is essential to control the disease. The conventional microbiological tests have limitations and there is an urgent need to devise a simple, rapid and reliable point-of-care (POC) test. The failure of TB diagnostic tests based on antibody detection due to inconsistent and imprecise results has stimulated renewed interest in the development of rapid antigen detection methods. However, the World Health Organization (WHO) has emphasized to continue research for designing new antibody-based detection tests with improved accuracy...
May 17, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/28527730/experiences-of-the-screening-process-and-the-diagnosis-abdominal-aortic-aneurysm-among-65-year-old-men-from-invitation-to-a-1-year-surveillance
#12
Monica Pettersson, Anders Hansson, John Brodersen, Christine Kumlien
The prevalence of abdominal aortic aneurysm (AAA) is reported to be 2.2%-8% among men >65 years. During recent years, screening programs have been developed to detect AAA, prevent ruptures, and thereby saving lives. Therefore, most men with the diagnosis are monitored conservatively with regular reviews. The objective of the study was to describe how men diagnosed with abdominal aortic aneurysm <55 mm discovered by screening experience the process and diagnosis from invitation to 1 year after screening...
June 2017: Journal of Vascular Nursing: Official Publication of the Society for Peripheral Vascular Nursing
https://www.readbyqxmd.com/read/28527622/genome-wide-copy-number-analysis-reveals-candidate-gene-loci-that-confer-susceptibility-to-high-grade-prostate-cancer
#13
Prevathe Poniah, Shamsul Mohd Zain, Azad Hassan Abdul Razack, Shanggar Kuppusamy, Shankar Karuppayah, Hooi Sian Eng, Zahurin Mohamed
BACKGROUND: Two key issues in prostate cancer (PCa) that demand attention currently are the need for a more precise and minimally invasive screening test owing to the inaccuracy of prostate-specific antigen and differential diagnosis to distinguish advanced vs. indolent cancers. This continues to pose a tremendous challenge in diagnosis and prognosis of PCa and could potentially lead to overdiagnosis and overtreatment complications. Copy number variations (CNVs) in the human genome have been linked to various carcinomas including PCa...
May 17, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28527524/c9orf72-hexanucleotide-repeat-expansions-and-ataxin-2-intermediate-length-repeat-expansions-in-indian-patients-with-amyotrophic-lateral-sclerosis
#14
Priyam Narain, James Gomes, Rohit Bhatia, Inder Singh, Perumal Vivekanandan
Repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in the Caucasian population. Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS in North America and Europe. We screened 131 ALS patients and 127 healthy controls from India for C9orf72 and ATXN2 repeat expansions. We found pathogenic hexanucleotide expansions in 3 of the 127 sporadic ALS patients, in 1 of the 4 familial ALS patients, and in none of the healthy controls...
April 26, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28527475/the-oximapa-study-hypertension-control-by-abpm-and-association-with-sleep-apnea-syndrome-by-pulse-oximetry
#15
Tiago Maricoto, Eurico Alves Rodrigues Silva, Pedro Damião, José Mesquita Bastos
INTRODUCTION: Ambulatory blood pressure monitoring by automatic device is the best blood pressure evaluation method and sleep apnea syndrome is the leading cause of poor control. Oximetry allows screening these individuals but its usefulness has been poorly explored in Primary Health Care. The aim was to evaluate the blood pressure control at the office and with ambulatory blood pressure monitoring by automatic device and to relate it to sleep apnea syndrome. MATERIAL AND METHODS: We selected a sample of 50 participants, representative of 3036 hypertensive patients...
February 27, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28527412/early-stage-detection-of-ve-cadherin-during-endothelial-differentiation-of-human-mesenchymal-stem-cells-using-spr-biosensor
#16
Farzaneh Fathi, Aysa Rezabakhsh, Reza Rahbarghazi, Mohammad-Reza Rashidi
Surface plasmon resonance (SPR) biosensors are most commonly applied for real-time dynamic analysis and measurement of interactions in bio-molecular studies and cell-surface analysis without the need for labeling processes. Up to present, SPR application in stem cell biology and biomedical sciences was underused. Herein, a very simple and sensitive method was developed to evaluate human mesenchymal stem cells trans-differentiation to endothelial lineage of over a period of 14 days based on VE-cadherin biomarker...
May 10, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28527397/mri-surveillance-for-women-with-dense-breasts-and-a-previous-breast-cancer-and-or-high-risk-lesion
#17
Michelle Nadler, Hyder Al-Attar, Ellen Warner, Anne L Martel, Sharmila Balasingham, Liying Zhang, Joseph H Lipton, Belinda Curpen
BACKGROUND: The role of surveillance breast MRI for women with mammographically dense breasts, a personal history of breast cancer (BC), atypical hyperplasia (AH), or lobular carcinoma in situ (LCIS) is unclear. We estimated the performance of annual surveillance MRI in women with a combination of these risk factors. METHODS: We performed a retrospective review of the clinical, radiological, and pathological parameters of women who received annual concurrent surveillance breast MRI and mammography between 04/2013 and 12/2015 and fulfilled all of the following criteria: 1) age <70; 2) prior diagnosis of AH, LCIS or BC; 3) heterogeneously or extremely dense breast(s); and 4) did not qualify for our provincial breast MRI high risk screening program...
May 17, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28527393/a-combination-of-platelet-features-allows-detection-of-early-stage-cancer
#18
Siamack Sabrkhany, Marijke J E Kuijpers, Sander M J van Kuijk, Linda Sanders, Sharo Pineda, Steven W M Olde Damink, Anne-Marie C Dingemans, Arjan W Griffioen, Mirjam G A Oude Egbrink
BACKGROUND: Detection of early-stage cancer significantly improves patient survival. As platelets play an important role in cancer progression, we aimed to investigate whether platelets can be used for the discovery of early-stage cancer. METHODS: Patients with lung (n = 86) or head of pancreas (n = 42) cancer were included, as were healthy sex- and age-matched controls (n = 92). Blood was collected before initiation of treatment. Platelet count, volume and activation status were quantified in whole blood...
May 17, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28527389/dynamics-of-dissolved-organic-matter-in-riverine-sediments-affected-by-weir-impoundments-production-benthic-flux-and-environmental-implications
#19
Meilian Chen, Sung-Han Kim, Heon-Jae Jung, Jung-Ho Hyun, Jung Hyun Choi, Hyo-Jin Lee, In-Ae Huh, Jin Hur
In order to understand the characteristics and dynamics of dissolved organic matter (DOM) in the sediment of rivers affected by impoundments, we examined the vertical profiles and the benthic fluxes of DOM in four different core sediments located at upstream sites of weirs in major rivers of South Korea. In three out of four sites, exponential accumulation of dissolved organic carbon (DOC) with depth was observed with the signature of seasonal variability. Except for the site displaying a below-detection limit of Fe(II), the general accumulation trends of DOC with depth was concurrent with the increases of Fe(II) and NH4(+) and the decrease of PO4(3-), signifying a close linkage of the DOM dynamics with anaerobic respiration via iron reduction, an important early diagenesis pathway...
May 12, 2017: Water Research
https://www.readbyqxmd.com/read/28527349/maternal-and-perinatal-outcomes-in-pregnancy-associated-melanoma-report-of-two-cases-and-a-systematic-literature-review
#20
Elsa Mendizábal, Juan De León-Luis, Natalia R Gómez-Hidalgo, Laura Joigneau, Pilar Pintado, Patricia Rincón, Virginia Ortega, Santiago Lizarraga
OBJETIVES: Melanoma is one of the most frequent malignancies during gestation. However, oncological and perinatal management is still challenging. Our first objective is to describe the cases of pregnancy-associated melanoma (PAM) diagnosed in our centre between January-2004 and May-2015. Secondly, to perform a systematic review of the published articles analysing the maternal-perinatal outcomes of patients diagnosed with PAM. DESIGN, POPULATION AND METHODS: Obstetrical, oncological and perinatal variables were recorded in the case series...
April 21, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
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