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https://www.readbyqxmd.com/read/28340351/bedside-back-to-bench-building-bridges-between-basic-and-clinical-genomic-research
#1
Teri A Manolio, Douglas M Fowler, Lea M Starita, Melissa A Haendel, Daniel G MacArthur, Leslie G Biesecker, Elizabeth Worthey, Rex L Chisholm, Eric D Green, Howard J Jacob, Howard L McLeod, Dan Roden, Laura Lyman Rodriguez, Marc S Williams, Gregory M Cooper, Nancy J Cox, Gail E Herman, Stephen Kingsmore, Cecilia Lo, Cathleen Lutz, Calum A MacRae, Robert L Nussbaum, Jose M Ordovas, Erin M Ramos, Peter N Robinson, Wendy S Rubinstein, Christine Seidman, Barbara E Stranger, Haoyi Wang, Monte Westerfield, Carol Bult
Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340221/nationwide-multicentre-kidney-biopsy-study-of-japanese-patients-with-type-2-diabetes
#2
Kengo Furuichi, Yukio Yuzawa, Miho Shimizu, Akinori Hara, Tadashi Toyama, Hiroshi Kitamura, Yoshiki Suzuki, Hiroshi Sato, Noriko Uesugi, Yoshifumi Ubara, Satoshi Hisano, Yoshihiko Ueda, Shinichi Nishi, Hitoshi Yokoyama, Tomoya Nishino, Kentaro Kohagura, Daisuke Ogawa, Koki Mise, Yugo Shibagaki, Kenjiro Kimura, Masakazu Haneda, Hirofumi Makino, Seiichi Matsuo, Takashi Wada
Background.: The clinical and pathologic manifestations of nephropathy due to type 2 diabetes are diverse, but large-scale pathologic studies with long-term observations are limited. Methods.: Kidney biopsies and clinical data of 600 patients with type 2 diabetes were collected retrospectively from 13 centres across Japan. Thirteen pathologic findings (nine glomerular lesions, two interstitial lesions and two vascular lesions) were clearly defined and scored. Results...
March 2, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28340142/multigene-signature-for-predicting-prognosis-of-patients-with-1p19q-co-deletion-diffuse-glioma
#3
Xin Hu, Emmanuel Martinez-Ledesma, Siyuan Zheng, Hoon Kim, Floris Barthel, Tao Jiang, Kenneth R Hess, Roel G W Verhaak
Background.: Co-deletion of 1p and 19q marks a diffuse glioma subtype associated with relatively favorable overall survival; however, heterogeneous clinical outcomes are observed within this category. Methods.: We assembled gene expression profiles and sample annotation of 374 glioma patients carrying the 1p/19q co-deletion. We predicted 1p/19q status using gene expression when annotation was missing. A first cohort was randomly split into training (n = 170) and a validation dataset (n = 163)...
March 8, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28340119/the-risk-of-nephrolithiasis-is-causally-related-to-inactive-matrix-gla-protein-a-marker-of-vitamin-k-status-a-mendelian-randomization-study-in-a-flemish-population
#4
Fang-Fei Wei, Lutgarde Thijs, Zhen-Yu Zhang, Lotte Jacobs, Wen-Yi Yang, Erika Salvi, Lorena Citterio, Nicholas Cauwenberghs, Tatiana Kuznetsova, Nadja E A Drummen, Azusa Hara, Paolo Manunta, Yan Li, Peter Verhamme, Karel Allegaert, Daniele Cusi, Cees Vermeer, Jan A Staessen
Background.: Vitamin K (VK)-dependent γ-glutamate carboxylation and serine phosphorylation activate matrix Gla protein (MGP) to a potent locally acting inhibitor of calcification. Nephrolithiasis represents a process of unwanted calcification associated with substantial mortality and high recurrence rates. We hypothesized that the risk of nephrolithiasis increases with VK shortage, as exemplified by higher plasma levels of desphospho-uncarboxylated MGP (dp-ucMGP). Methods...
March 15, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28340079/measured-glomerular-filtration-rate-does-not-improve-prediction-of-mortality-by-cystatin-c-and-creatinine
#5
Per-Ola Sundin, Per Sjöström, Ian Jones, Lovisa A Olsson, Ruzan Udumyan, Anders Grubb, Veronica Lindström, Scott Montgomery
Background: Cystatin C may add explanatory power for associations with mortality in combination with other filtration markers, possibly indicating pathways other than glomerular filtration rate (GFR). However, this has not been firmly established since interpretation of associations independent of measured GFR (mGFR) is limited by potential multicollinearity between markers of GFR. The primary aim of this study was to assess associations between cystatin C and mortality, independent of mGFR...
March 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28340077/idiopathic-non-lupus-full-house-nephropathy-is-associated-with-poor-renal-outcome
#6
Emilie C Rijnink, Y K Onno Teng, Tineke Kraaij, Ron Wolterbeek, Jan A Bruijn, Ingeborg M Bajema
Background.: Full-house immunofluorescence in combination with various histopathologic lesions in the renal biopsies of patients without overt systemic lupus erythematosus (SLE) poses a diagnostic challenge. In this setting, the biopsy findings are sometimes termed non-lupus 'full-house nephropathy' (FHN). It is presently unknown whether idiopathic non-lupus FHN is clinicopathologically and prognostically distinct from lupus FHN. Methods.: We included non-lupus FHN patients and lupus FHN controls (four or more American College of Rheumatology or Systemic Lupus International Collaborating Clinics criteria) who were biopsied between 1968 and 2014 at the Leiden University Medical Centre...
March 13, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28340049/cardiac-troponin-i-as-a-predictor-of-mortality-in-patients-with-first-episode-acute-atrial-fibrillation
#7
Mohammad E Naffaa, Roni Nasser, Elias Manassa, Maha Younis, Zaher S Azzam, Doron Aronson
Background: Recent-onset atrial fibrillation (AF) is a frequent cause for presentation to the emergency department. Recent studies proposed that the addition of biomarker information might improve the prediction of clinical outcomes by enabling identification of patients at high risk. Aim: We aimed to examine the role of cardiac troponin I as a predictor of clinical outcome in patients with first episode acute atrial fibrillation. Design: : Patients, 18 years or older, presenting to our hospital with a primary diagnosis of first episode acute atrial fibrillation were included in this retrospective study...
March 11, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28340038/coincidental-coronary-artery-disease-impairs-outcome-in-patients-with-takotsubo-cardiomyopathy
#8
V Bill, I El-Battrawy, K Schramm, U Ansari, U Hoffmann, D Haghi, J Kuschyk, M Borggrefe, I Akin
Background and aim: Takotsubo cardiomyopathy (TC) is an important differential diagnosis of coronary artery disease (CAD), mimicking acute coronary syndrome in clinical symptoms, biomarker profiles and ST-elevation in ECG. Absence of occlusive coronary disease is an essential criterion distinguishing both diseases. The aim of the study was to explore the influence of co-existing incidental CAD on poorer clinical outcomes and all-cause mortality in TC. Design, methods and results: Our mono-centric study cohort constituted 114 consecutive patients diagnosed with TC between 2003 and 2015...
March 14, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28340031/one-year-clinical-correlates-of-etg-positive-urine-screening-in-alcohol-dependent-patients-a-survival-analysis
#9
Pablo Barrio, Silvia Mondon, Lídia Teixidor, Lluisa Ortega, Eduard Vieta, Antoni Gual
Aims: Little evidence exists supporting the efficacy of regular alcohol urine screening (RAUS) in the management of alcohol dependence, despite recent improvements in urine biomarkers. In this study, we aimed at investigating 1 year, differential clinical correlates between a positive and a negative baseline urine ethyl glucuronide (EtG) screening. Methods: Alcohol-dependent outpatients participating in a previous cross-sectional study where EtG and ethanol diagnostic performances were compared in a double blind design were included...
March 10, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28340014/association-between-right-ventricular-lead-position-and-clinical-outcomes-in-patients-with-cardiac-resynchronization-therapy
#10
Mads Brix Kronborg, Jens Brock Johansen, Sam Riahi, Helen Hoegh Petersen, Jens Haarbo, Ole Dan Jørgensen, Jens Cosedis Nielsen
Aims: To evaluate the association between an apical vs. non-apical right ventricular lead position (RV-LP) and clinical outcome in a large nationwide cohort of patients treated with cardiac resynchronization therapy (CRT). Methods and results: We included consecutive Danish patients receiving a CRT device from 2008 to 2012, identified from the Danish Pacemaker and ICD Register. Endpoints were mortality, mortality or hospitalization for heart failure (HF), and clinical response (improvement ≥1 New York Heart Association class at follow-up)...
March 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28339906/interstitial-fibrosis-scored-on-whole-slide-digital-imaging-of-kidney-biopsies-is-a-predictor-of-outcome-in-proteinuric-glomerulopathies
#11
Laura H Mariani, Sebastian Martini, Laura Barisoni, Pietro A Canetta, Jonathan P Troost, Jeffrey B Hodgin, Matthew Palmer, Avi Z Rosenberg, Kevin V Lemley, Hui-Ping Chien, Jarcy Zee, Abigail Smith, Gerald B Appel, Howard Trachtman, Stephen M Hewitt, Matthias Kretzler, Serena M Bagnasco
Background.: Interstitial fibrosis (IF), tubular atrophy (TA) and interstitial inflammation (II) are known determinants of progression of renal disease. Standardized quantification of these features could add value to current classification of glomerulopathies. Methods.: We studied 315 participants in the Nephrotic Syndrome Study Network (NEPTUNE) study, including biopsy-proven minimal change disease (MCD = 98), focal segmental glomerulosclerosis (FSGS = 121), membranous nephropathy (MN = 59) and IgA nephropathy (IgAN = 37)...
February 27, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339826/the-importance-of-considering-competing-treatment-affecting-prognosis-in-the-evaluation-of-therapy-in-trials-the-example-of-renal-transplantation-in-hemodialysis-trials
#12
C Marijn Hazelbag, Sanne A E Peters, Peter J Blankestijn, Michiel L Bots, Bernard Canaud, Andrew Davenport, Muriel P C Grooteman, Fatih Kircelli, Francesco Locatelli, Francisco Maduell, Marion Morena, Menso J Nubé, Ercan Ok, Ferran Torres, Arno W Hoes, Rolf H H Groenwold
Background.: During the follow-up in a randomized controlled trial (RCT), participants may receive additional (non-randomly allocated) treatment that affects the outcome. Typically such additional treatment is not taken into account in evaluation of the results. Two pivotal trials of the effects of hemodiafiltration (HDF) versus hemodialysis (HD) on mortality in patients with end-stage renal disease reported differing results. We set out to evaluate to what extent methods to take other treatments (i...
February 27, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339801/routinely-measured-iohexol-glomerular-filtration-rate-versus-creatinine-based-estimated-glomerular-filtration-rate-as-predictors-of-mortality-in-patients-with-advanced-chronic-kidney-disease-a-swedish-chronic-kidney-disease-registry-cohort-study
#13
Shona Methven, Alessandro Gasparini, Juan J Carrero, Fergus J Caskey, Marie Evans
Background.: Estimated glomerular filtration rate (eGFR) becomes less reliable in patients with advanced chronic kidney disease (CKD). Methods.: Using the Swedish CKD Registry (2005-11), linked to the national inpatient, dialysis and death registers, we compared the performance of plasma-iohexol measured GFR (mGFR) and urinary clearance measures versus eGFR to predict death in adults with CKD stages 4/5. Performance was assessed using survival and prognostic models...
February 23, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339674/family-history-of-systemic-lupus-erythematosus-and-risk-of-autoimmune-disease-nationwide-cohort-study-in-denmark-1977-2013
#14
Constance Jensina Ulff-Møller, Jacob Simonsen, Kirsten Ohm Kyvik, Søren Jacobsen, Morten Frisch
Objective.: To provide population-based estimates of relative risk of SLE and other autoimmune diseases (ADs) in relatives of SLE patients. Methods.: A cohort of 5 237 319 Danish residents identified through the Civil Registration System was coupled to their relatives through the parental link and followed for SLE and other ADs between 1977 and 2013 through linkage to the National Patient Register. Twin zygosity was established through the Danish Twin Registry. Hazard ratios (HRs) with 95% CIs were calculated using Cox proportional hazards regression analyses...
February 20, 2017: Rheumatology
https://www.readbyqxmd.com/read/28339643/increased-risk-of-myofascial-pain-syndrome-among-patients-with-insomnia
#15
Wei-Chen Lin, Cheng-Che Shen, Shih-Jen Tsai, Albert C Yang
Objective. : The aim of this study is to evaluate the risk of developing myofascial pain syndrome among patients diagnosed with insomnia. Methods. : We conducted a population-based longitudinal study of a matched cohort with 7,895 participants (1,579 patients with insomnia and 6,316 controls) who were selected from the Taiwan National Health Insurance Research Database. The patients were observed for a maximum of 10 years to determine the incidence of newly diagnosed myofascial pain syndrome...
February 11, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28339588/mri-features-predict-survival-and-molecular-markers-in-diffuse-lower-grade-gliomas
#16
Hao Zhou, Martin Vallières, Harrison X Bai, Chang Su, Haiyun Tang, Derek Oldridge, Zishu Zhang, Bo Xiao, Weihua Liao, Yongguang Tao, Jianhua Zhou, Paul Zhang, Li Yang
Background.: Previous studies have shown that MR imaging features can be used to predict survival and molecular profile of glioblastoma. However, no study of a similar type has been performed on lower-grade gliomas (LGGs). Methods.: Presurgical MRIs of 165 patients with diffuse low- and intermediate-grade gliomas (histological grades II and III) were scored according to the Visually Accessible Rembrandt Images (VASARI) annotations. Radiomic models using automated texture analysis and VASARI features were built to predict isocitrate dehydrogenase 1 (IDH1) mutation, 1p/19q codeletion status, histological grade, and tumor progression...
January 24, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28339511/living-alone-and-unplanned-hospitalizations-among-older-adults-a-population-based-longitudinal-study
#17
Clément Pimouguet, Debora Rizzuto, Marten Lagergren, Laura Fratiglioni, Weili Xu
The association of living alone with hospitalization among the general elderly population has been rarely investigated, and the influence of common disorders on this association remains unknown. We used data on participants in the Swedish National study on Aging and Care in Kungsholmen ( n = 3130). Risk and number of unplanned hospitalizations and length of hospital stays were studied over a period of 2 years. We used Cox proportional hazard models to estimate hazard ratios (HRs) of incident hospitalization and zero-inflated negative binomial regression models adjusted for potential confounders to estimate incident rate ratios (IRR) of the number of hospitalizations and total length of stay associated with living alone...
October 15, 2016: European Journal of Public Health
https://www.readbyqxmd.com/read/28339471/expression-quantitative-trait-loci-for-pax8-contributes-to-the-prognosis-of-hepatocellular-carcinoma
#18
Shijie Ma, Jianshui Yang, Ci Song, Zijun Ge, Jing Zhou, Guoxin Zhang, Zhibin Hu
Paired-box family member PAX8 encodes a transcription factor that has a role in cell differentiation and cell growth and may participate in the prognosis of hepatocellular carcinoma (HCC). By bioinformatics analysis, we identified several single nucleotide polymorphisms (SNPs) within a newly identified long non-coding RNA (lncRNA) AC016683.6 as expression quantitative trait loci (eQTLs) for PAX8. Hence, we hypothesized that PAX8eQTLs in lncRNA AC016683.6 may influence the HCC prognosis. We then performed a case-only study to assess the association between the two SNPs as well as the prognosis of HCC in 331 HBV-positive HCC patients without surgical treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28339329/morbidity-and-mortality-associated-with-meningioma-after-cranial-radiotherapy-a-report-from-the-childhood-cancer-survivor-study
#19
Daniel C Bowers, Chaya S Moskowitz, Joanne F Chou, Claire M Mazewski, Joseph P Neglia, Gregory T Armstrong, Wendy M Leisenring, Leslie L Robison, Kevin C Oeffinger
Purpose Little is known about neurologic morbidity attributable to cranial radiotherapy (CRT) -associated meningiomas. Materials and Methods From 4,221 survivors exposed to CRT in the Childhood Cancer Survivor Study, a diagnosis of meningioma and onset of neurologic sequelae were ascertained. Cox proportional hazards regression was used to estimate hazard ratios (HR) and 95% CIs to evaluate the factors associated with neurologic sequelae after subsequent meningioma. Results One hundred ninety-nine meningiomas were identified among 169 participants...
March 24, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28339306/descriptive-characteristics-of-colon-and-rectal-cancer-recurrence-in-a-danish-population-based-study
#20
Ashley C Holmes, Anders H Riis, Rune Erichsen, Veronika Fedirko, Eva Bjerre Ostenfeld, Mogens Vyberg, Ole Thorlacius-Ussing, Timothy L Lash
BACKGROUND: Recurrence is a common outcome among patients that have undergone an intended curative resection for colorectal cancer. However, data on factors that influence colorectal cancer recurrence are sparse. We report descriptive characteristics of both colon and rectal cancer recurrence in an unselected population. MATERIAL AND METHODS: We identified 21,152 patients with colorectal cancer diagnosed between May 2001 and December 2011 and registered with the Danish Colorectal Cancer Group...
March 24, 2017: Acta Oncologica
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