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https://www.readbyqxmd.com/read/28456133/variants-at-the-oca2-herc2-locus-affect-time-to-first-cutaneous-squamous-cell-carcinoma-in-solid-organ-transplant-recipients-collected-using-two-different-study-designs
#1
L Wei, D C Allain, M N Bernhardt, J L Gillespie, S B Peters, O H Iwenofu, H H Nelson, S T Arron, A E Toland
BACKGROUND: Variants at the Oculocutaneous albinism 2 (OCA2)/ HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2 (HERC2) locus have been associated with pigmentation phenotypes as well as risk of developing multiple types of skin cancer. OBJECTIVES: The goal of this study was to evaluate OCA2/HERC2 locus variants for impact on time to develop cutaneous squamous cell carcinoma (cSCC) in organ transplant recipients (OTRs) who are at elevated risk of developing cSCC...
April 29, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28455235/computational-prediction-and-analysis-of-deleterious-cancer-associated-missense-mutations-in-dync1h1
#2
Ceren Sucularli, Melda Arslantas
Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene encodes a subunit of human cytoplasmic dynein complex, which has several crucial functions in the cell, such as intracellular transport of DNA damage proteins and mitotic spindle positioning. Recent studies reported the altered expression of DYNC1H1 in different cancers and DYNC1H1 was suggested to be potential biomarker in colorectal cancers. Previously, DYNC1H1 mutations have been associated with neurodegenerative diseases, however mutations of DYNC1H1 have not been fully investigated in cancers except for different types of pancreatic cancers...
April 25, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/28440896/genome-wide-meta-analysis-identifies-a-novel-susceptibility-signal-at-cacna2d3-for-nicotine-dependence
#3
Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R Gizer, Cindy L Ehlers, Kirk C Wilhelmsen
Nicotine dependence (ND) has a reported heritability of 40-70%. Low-coverage whole-genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome-wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed-effect meta-analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta-analysis of African participants identified a significant and novel susceptibility signal (rs56247223; p = 4...
April 25, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28393314/real-world-treatment-patterns-in-advanced-pancreatic-neuroendocrine-tumors-in-the-era-of-targeted-therapy-perspectives-from-an-academic-tertiary-center-and-community-oncology-practices
#4
Maurice Herring, Lynn Huynh, Mei Sheng Duh, Francis Vekeman, Audrey Tiew, Maureen Neary, Emily Bergsland
Pancreatic neuroendocrine tumors (pNETs) are rare, slow-growing cancers. Optimal treatment of advanced pNETs is unclear. The aim of this study was to examine treatment patterns and preferences among an academic tertiary medical center and community-based oncology practices. Retrospective chart review was performed for patients with newly diagnosed locally advanced, metastatic, or unresectable pNET diagnosed between January 2010 and December 2013 at an academic tertiary cancer center [University of California, San Francisco (UCSF)] or a large network of community oncology practices [Altos Solutions' OncoEMR database (ALTOS)]...
May 2017: Medical Oncology
https://www.readbyqxmd.com/read/28375571/hla-mismatching-favoring-host-versus-graft-nk-cell-activity-via-kir3dl1-is-associated-with-improved-outcomes-following-lung-transplantation
#5
J R Greenland, H Sun, D Calabrese, T Chong, J P Singer, J Kukreja, S R Hays, J A Golden, G H Caughey, J M Venstrom, R Rajalingam
Chronic lung allograft dysfunction (CLAD) is linked to rejection and limits survival following lung transplantation. HLA-Bw4 recipients of HLA-Bw6 grafts have enhanced host-versus-graft (HVG) natural killer (NK) cell activity mediated by killer cell immunoglobulin-like receptor (KIR)3DL1 ligand. Because NK cells may promote tolerance by depleting antigen-presenting cells, we hypothesized improved outcomes for HLA-Bw4 recipients of HLA-Bw6 grafts. We evaluated differences in acute cellular rejection and CLAD-free survival across 252 KIR3DL1+ recipients from University of California, San Francisco (UCSF)...
April 4, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28368157/genetic-variation-in-the-exome-associations-with-alcohol-and-tobacco-co-use
#6
Jacqueline M Otto, Ian R Gizer, Jarrod M Ellingson, Kirk C Wilhelmsen
Shared genetic factors represent one underlying mechanism thought to contribute to high rates of alcohol and tobacco co-use and dependence. Common variants identified by molecular genetic studies tend to confer only small disease risk, and rare protein-coding variants are posited to contribute to disease risk, as well. However, given that genotyping technologies allowing for their inclusion in association studies have only recently become available, the magnitude of their contribution is poorly understood. The current study examined genetic variation in protein-coding regions (i...
May 2017: Psychology of Addictive Behaviors: Journal of the Society of Psychologists in Addictive Behaviors
https://www.readbyqxmd.com/read/28365730/biocuration-in-the-structure-function-linkage-database-the-anatomy-of-a-superfamily
#7
Gemma L Holliday, Shoshana D Brown, Eyal Akiva, David Mischel, Michael A Hicks, John H Morris, Conrad C Huang, Elaine C Meng, Scott C-H Pegg, Thomas E Ferrin, Patricia C Babbitt
With ever-increasing amounts of sequence data available in both the primary literature and sequence repositories, there is a bottleneck in annotating molecular function to a sequence. This article describes the biocuration process and methods used in the structure-function linkage database (SFLD) to help address some of the challenges. We discuss how the hierarchy within the SFLD allows us to infer detailed functional properties for functionally diverse enzyme superfamilies in which all members are homologous, conserve an aspect of their chemical function and have associated conserved structural features that enable the chemistry...
January 1, 2017: Database: the Journal of Biological Databases and Curation
https://www.readbyqxmd.com/read/28350795/fine-mapping-of-the-human-leukocyte-antigen-locus-as-a-risk-factor-for-alzheimer-disease-a-case-control-study
#8
Natasha Z R Steele, Jessie S Carr, Luke W Bonham, Ethan G Geier, Vincent Damotte, Zachary A Miller, Rahul S Desikan, Kevin L Boehme, Shubhabrata Mukherjee, Paul K Crane, John S K Kauwe, Joel H Kramer, Bruce L Miller, Giovanni Coppola, Jill A Hollenbach, Yadong Huang, Jennifer S Yokoyama
BACKGROUND: Alzheimer disease (AD) is a progressive disorder that affects cognitive function. There is increasing support for the role of neuroinflammation and aberrant immune regulation in the pathophysiology of AD. The immunoregulatory human leukocyte antigen (HLA) complex has been linked to susceptibility for a number of neurodegenerative diseases, including AD; however, studies to date have failed to consistently identify a risk HLA haplotype for AD. Contributing to this difficulty are the complex genetic organization of the HLA region, differences in sequencing and allelic imputation methods, and diversity across ethnic populations...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28346946/association-between-a-virtual-glucose-management-service-and-glycemic-control-in-hospitalized-adult-patients-an-observational-study
#9
Robert J Rushakoff, Mary M Sullivan, Heidemarie Windham MacMaster, Arti D Shah, Alvin Rajkomar, David V Glidden, Michael A Kohn
Background: Inpatient hyperglycemia is common and is linked to adverse patient outcomes. New methods to improve glycemic control are needed. Objective: To determine whether a virtual glucose management service (vGMS) is associated with improved inpatient glycemic control. Design: Cross-sectional analyses of three 12-month periods (pre-vGMS, transition, and vGMS) between 1 June 2012 and 31 May 2015. Setting: 3 University of California, San Francisco, hospitals...
May 2, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28329664/prospective-evaluation-of-complications-in-dermatologic-surgery-associated-with-hypertension-conroy
#10
Conroy Chow, Matthew J Simpson, Niko Pascua, Harjot Maan, Jacqueline G Berlier, Siegrid Yu, Isaac Neuhaus, Roy Grekin, Sarah T Arron
BackgroundPoorly controlled hypertension is a known risk factor for surgical complications. OBJECTIVE: This study examines the incidence of complications in participants undergoing Mohsmicrographic surgery (MMS) based on preoperative blood pressure (BP) measurement and investigates the role of potential confounders in the relationship between preoperative BP and postoperative complications.MethodsThis 10-month prospective cohort study at the University of California, San Francisco (UCSF) Dermatologic Surgery Center approached all patients undergoing MMS for participation and assessed for the diagnosis of hypertension, anti-hypertensive medication use, use of tobacco or blood thinners, immunosuppression, concomitant diabetes, or previous treatment with radiation therapy at the surgical site...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28283904/using-eprognosis-to-estimate-2-year-all-cause-mortality-in-older-women-with-breast-cancer-cancer-and-leukemia-group-b-calgb-49907-and-369901-alliance-a151503
#11
Gretchen G Kimmick, Brittny Major, Jonathan Clapp, Jeff Sloan, Brandelyn Pitcher, Karla Ballman, Myra Barginear, Rachel A Freedman, Andrew Artz, Heidi D Klepin, Jacqueline M Lafky, Judith Hopkins, Eric Winer, Clifford Hudis, Hyman Muss, Harvey Cohen, Aminah Jatoi, Arti Hurria, Jeanne Mandelblatt
PURPOSE: Tools to estimate survival, such as ePrognosis ( http://eprognosis.ucsf.edu/carey2.php ), were developed for general, not cancer, populations. In older patients with breast cancer, accurate overall survival estimates would facilitate discussions about adjuvant therapies. METHODS: Secondary analyses were performed of data from two parallel breast cancer studies (CALGB/Alliance 49907/NCT000224102 and CALGB/Alliance 369901/NCT00068328). We included patients (n = 971) who were age 70 years and older with complete baseline quality of life data (194 from 49907; 777 from 369901)...
June 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28281021/multi-gene-panel-testing-for-hereditary-cancer-predisposition-in-unsolved-high-risk-breast-and-ovarian-cancer-patients
#12
Beth Crawford, Sophie B Adams, Taylor Sittler, Jeroen van den Akker, Salina Chan, Ofri Leitner, Lauren Ryan, Elad Gil, Laura van 't Veer
PURPOSE: Many women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing. We sought to identify specific groups who remain at high risk and evaluate whether they should be offered multi-gene panel testing. METHODS: We tested 300 women on a multi-gene panel who were previously enrolled in a long-term study at UCSF...
June 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28270365/treatment-of-infants-identified-as-having-severe-combined-immunodeficiency-by-means-of-newborn-screening
#13
Morna J Dorsey, Christopher C Dvorak, Morton J Cowan, Jennifer M Puck
Severe combined immunodeficiency (SCID) is characterized by severely impaired T-cell development and is fatal without treatment. Newborn screening (NBS) for SCID permits identification of affected infants before development of opportunistic infections and other complications. Substantial variation exists between treatment centers with regard to pretransplantation care, and transplantation protocols for NBS identified infants with SCID, as well as infants with other T-lymphopenic disorders detected by using NBS...
March 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28260429/low-utility-of-fluorodeoxyglucose-positron-emission-tomography-computed-tomography-for-detecting-hepatocellular-carcinoma-in-patients-before-liver-transplantation
#14
Faisal Alotaibi, Monther Kabbani, Faisal Abaalkhail, Alicia Chorley, Hany Elbeshbeshy, Waleed Al-Hamoudi, Saleh Alabbad, Markus U Boehnert, Mohammad Alsofayan, Wael Al-Kattan, Baderaldeen Ahmed, Dieter Broering, Mohamed Al Sebayel, Hussien Elsiesy
OBJECTIVES: Our program routinely used fluorodeoxyglucose-positron emission tomography/computed tomography as part of the liver transplant evaluation of patients with hepatocellular carcinoma. The aim of this study was to evaluate the role of this imaging modality in the pretransplant work-up. MATERIALS AND METHODS: This was a retrospective chart review of our liver transplant database from January 2011 to December 2014 for all patients with hepatocellular carcinoma who underwent a liver transplant...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28255664/adult-infiltrating-gliomas-with-who-2016-integrated-diagnosis-additional-prognostic-roles-of-atrx-and-tert
#15
Melike Pekmezci, Terri Rice, Annette M Molinaro, Kyle M Walsh, Paul A Decker, Helen Hansen, Hugues Sicotte, Thomas M Kollmeyer, Lucie S McCoy, Gobinda Sarkar, Arie Perry, Caterina Giannini, Tarik Tihan, Mitchel S Berger, Joseph L Wiemels, Paige M Bracci, Jeanette E Eckel-Passow, Daniel H Lachance, Jennifer Clarke, Jennie W Taylor, Tracy Luks, John K Wiencke, Robert B Jenkins, Margaret R Wrensch
The "integrated diagnosis" for infiltrating gliomas in the 2016 revised World Health Organization (WHO) classification of tumors of the central nervous system requires assessment of the tumor for IDH mutations and 1p/19q codeletion. Since TERT promoter mutations and ATRX alterations have been shown to be associated with prognosis, we analyzed whether these tumor markers provide additional prognostic information within each of the five WHO 2016 categories. We used data for 1206 patients from the UCSF Adult Glioma Study, the Mayo Clinic and The Cancer Genome Atlas (TCGA) with infiltrative glioma, grades II-IV for whom tumor status for IDH, 1p/19q codeletion, ATRX, and TERT had been determined...
June 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28250087/cell-scientist-to-watch-marvin-tanenbaum
#16
(no author information available yet)
Marvin Tanenbaum performed his undergraduate studies in Biomedical Sciences at the University of Amsterdam in The Netherlands. He obtained his PhD from Utrecht University in 2010 cum laude, having worked with René Medema on microtubule motor proteins. He won the Netherlands Association for Medical Education (NVMO) Oncology and Utrecht University Thesis awards, and moved to San Francisco with an EMBO long-term fellowship for his postdoctoral position in Ron Vale's laboratory at University of California, San Francisco (UCSF)...
March 1, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28246298/lost-dollars-threaten-research-in-public-academic-health-centers
#17
Henry R Bourne, Eric B Vermillion
The decrease of federal and state support threatens long-term sustainability of research in publicly supported academic health centers. In weathering these financial threats, research at the University of California, San Francisco (UCSF), has undergone 3 substantial changes: institutional salary support goes preferentially to senior faculty, whereas the young increasingly depend on grants; private and government support for research grows apace in clinical departments but declines in basic science departments; and research is judged more on its quantity (numbers of investigators and federal and private dollars) than on its goals, achievements, or scientific quality...
March 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28242867/living-donor-liver-transplantation-for-combined-hepatocellular-carcinoma-and-cholangiocarcinoma-experience-of-a-single-center
#18
Cheng-Chih Chang, Ying-Ju Chen, Tzu-Hao Huang, Chun-Han Chen, Fang-Ying Kuo, Hock-Liew Eng, Chee-Chien Yong, Yueh-Wei Liu, Ting-Lung Lin, Wei-Feng Li, Yu-Hung Lin, Chih-Che Lin, Chih-Chi Wang, Chao-Long Chen
BACKGROUND Because the outcome of liver transplantation for cholangiocarcinoma is often poor, cholangiocarcinoma is a contraindication for liver transplantation in most centers. Combined hepatocellular carcinoma and cholangiocarcinoma is a rare type of primary hepatic malignancy containing features of hepatocellular carcinoma and cholangiocarcinoma. Diagnosing combined hepatocellular carcinoma and cholangiocarcinoma pre-operatively is difficult. Because of sparse research presentations worldwide, we report our experience with living donor liver transplantation for combined hepatocellular carcinoma and cholangiocarcinoma...
February 28, 2017: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/28214240/bridging-locoregional-therapy-longitudinal-trends-and-outcomes-in-patients-with-hepatocellular-carcinoma
#19
REVIEW
Hayley C Oligane, Orrie N Close, Minzhi Xing, Hyun S Kim
The purpose of this article is to analyze longitudinal trends in locoregional therapy (LRT) use and review locoregional therapy's role in the management of hepatocellular carcinoma prior to orthotropic liver transplantation Porrett et al. (2006) . LRT has a role in both bridge to transplantation and downstaging of patients not initially meeting Milan or UCSF Criteria. Due to the lack of randomized controlled trials, no specific bridging LRT modality is recommended over another for treating patients on the waiting list, however each modality has unique and patient-specific advantages...
February 2, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28156676/poor-prognostic-indicators-for-patients-treated-with-radiosurgery-for-brain-metastases
#20
Wendy Anderson, Shannon E Fogh, Jean L Nakamura, Philip Theodosopoulos, Michael McDermott, Patricia Penny Sneed, Steve E Braunstein
32 Background: Radiosurgery (SRS) is a standard palliative treatment for patients with limited number of brain metastases. Growing evidence supports the use of SRS for more extensive disease. As SRS is increasingly used in advanced cancer, we sought to identify predictors of survival after SRS to help better inform patients about prognosis. METHODS: We reviewed patients treated with SRS for brain metastases at the University of California, San Francisco (UCSF) from Jan 2010-Dec 2013. Before SRS, all patients were screened for appropriateness of SRS at a multidisciplinary conference...
October 9, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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