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https://www.readbyqxmd.com/read/28749475/patient-care-standards-for-primary-mitochondrial-disease-a-consensus-statement-from-the-mitochondrial-medicine-society
#1
REVIEW
Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H Cohen, David Dimmock, Gregory M Enns, Marni J Falk, Annette Feigenbaum, Richard E Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P Saneto, Fernando Scaglia, John Shoffner, Peter W Stacpoole, Carolyn M Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F Chinnery
The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749318/probabilistic-linkage-to-enhance-deterministic-algorithms-and-reduce-data-linkage-errors-in-hospital-administrative-data
#2
Gareth Hagger-Johnson, Katie Harron, Harvey Goldstein, Robert Aldridge, Ruth Gilbert
 BACKGROUND: The pseudonymisation algorithm used to link together episodes of care belonging to the same patients in England (HESID) has never undergone any formal evaluation, to determine the extent of data linkage error. OBJECTIVE: To quantify improvements in linkage accuracy from adding probabilistic linkage to existing deterministic HESID algorithms. METHODS: Inpatient admissions to NHS hospitals in England (Hospital Episode Statistics, HES) over 17 years (1998 to 2015) for a sample of patients (born 13/28th of months in 1992/1998/2005/2012)...
June 30, 2017: Journal of Innovation in Health Informatics
https://www.readbyqxmd.com/read/28743749/sumoylation-determines-the-voltage-required-to-activate-cardiac-iks-channels
#3
Dazhi Xiong, Tian Li, Hui Dai, Anthony F Arena, Leigh D Plant, Steve A N Goldstein
IKs channels open in response to depolarization of the membrane voltage during the cardiac action potential, passing potassium ions outward to repolarize ventricular myocytes and end each beat. Here, we show that the voltage required to activate IKs channels depends on their covalent modification by small ubiquitin-like modifier (SUMO) proteins. IKs channels are comprised of four KCNQ1 pore-forming subunits, two KCNE1 accessory subunits, and up to four SUMOs, one on Lys424 of each KCNQ1 subunit. Each SUMO shifts the half-maximal activation voltage (V1/2) of IKs ∼ +8 mV, producing a maximal +34-mV shift in neonatal mouse cardiac myocytes or Chinese hamster ovary (CHO) cells expressing the mouse or human subunits...
July 25, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28742910/clinicopathological-evaluation-of-chronic-traumatic-encephalopathy-in-players-of-american-football
#4
Jesse Mez, Daniel H Daneshvar, Patrick T Kiernan, Bobak Abdolmohammadi, Victor E Alvarez, Bertrand R Huber, Michael L Alosco, Todd M Solomon, Christopher J Nowinski, Lisa McHale, Kerry A Cormier, Caroline A Kubilus, Brett M Martin, Lauren Murphy, Christine M Baugh, Phillip H Montenigro, Christine E Chaisson, Yorghos Tripodis, Neil W Kowall, Jennifer Weuve, Michael D McClean, Robert C Cantu, Lee E Goldstein, Douglas I Katz, Robert A Stern, Thor D Stein, Ann C McKee
Importance: Players of American football may be at increased risk of long-term neurological conditions, particularly chronic traumatic encephalopathy (CTE). Objective: To determine the neuropathological and clinical features of deceased football players with CTE. Design, Setting, and Participants: Case series of 202 football players whose brains were donated for research. Neuropathological evaluations and retrospective telephone clinical assessments (including head trauma history) with informants were performed blinded...
July 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28738117/shining-laser-light-on-traumatic-brain-injury-blood-biomarkers
#5
Lee E Goldstein, Ann C McKee
No abstract text is available yet for this article.
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28736638/cost-effectiveness-of-precision-medicine-in-gastrointestinal-stromal-tumor-and-gastric-adenocarcinoma
#6
REVIEW
Simon B Zeichner, Daniel A Goldstein, Christine Kohn, Christopher R Flowers
Over the past 20 years, with the incorporation of genetic sequencing and improved understanding regarding the mechanisms of cancer growth/metastasis, novel targets and their associated treatments have emerged in oncology and are now regularly incorporated into the clinical care of patients in the US. Novel, more tumor-specific, non-chemotherapy agents, including agents that are commonly used in the treatment of patients with gastric adenocarcinoma (GA) and gastrointestinal stromal tumor (GIST), fall under a broader treatment strategy, termed "precision medicine"...
June 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28736556/ras-signaling-inhibitors-attenuate-disease-in-adjuvant-induced-arthritis-via-targeting-pathogenic-antigen-specific-th17-type-cells
#7
Morad Zayoud, Victoria Marcu-Malina, Einav Vax, Jasmine Jacob-Hirsch, Galit Elad-Sfadia, Iris Barshack, Yoel Kloog, Itamar Goldstein
The Ras family of GTPases plays an important role in signaling nodes downstream to T cell receptor and CD28 activation, potentially lowering the threshold for T-cell receptor activation by autoantigens. Somatic mutation in NRAS or KRAS may cause a rare autoimmune disorder coupled with abnormal expansion of lymphocytes. T cells from rheumatoid arthritis (RA) patients show excessive activation of Ras/MEK/ERK pathway. The small molecule farnesylthiosalicylic acid (FTS) interferes with the interaction between Ras GTPases and their prenyl-binding chaperones to inhibit proper plasma membrane localization...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28736344/tfos-dews-ii-clinical-trial-design-report
#8
REVIEW
Gary D Novack, Penny Asbell, Stefano Barabino, Michael V W Bergamini, Joseph B Ciolino, Gary N Foulks, Michael Goldstein, Michael A Lemp, Stefan Schrader, Craig Woods, Fiona Stapleton
The development of novel therapies for Dry Eye Disease (DED) is formidable, and relatively few treatments evaluated have been approved for marketing. In this report, the Subcommittee reviewed challenges in designing and conducting quality trials, with special reference to issues in trials in patients with DED and present the regulatory perspective on DED therapies. The Subcommittee reviewed the literature and while there are some observations about the possible reasons why so many trials have failed, there is no obvious single reason other than the lack of correlation between signs and symptoms in DED...
July 2017: Ocular Surface
https://www.readbyqxmd.com/read/28734046/effect-of-a-community-based-service-learning-experience-in-geriatrics-on-internal-medicine-residents-and-community-participants
#9
Rachel K Miller, Jennifer Michener, Phyllis Yang, Karen Goldstein, Jennine Groce-Martin, Gala True, Jerry Johnson
Community-based service learning (CBSL) provides an opportunity to teach internal medicine residents the social context of aging and clinical concepts. The objectives of the current study were to demonstrate the feasibility of a CBSL program targeting internal medicine residents and to assess its effect on medical residents and community participants. internal medicine residents participated in a CBSL experience for half a day during ambulatory blocks from 2011 to 2014. Residents attended a senior housing unit or center, delivered a presentation about a geriatric health topic, toured the facility, and received information about local older adult resources...
July 22, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28733362/loss-of-cln5-causes-altered-neurogenesis-in-a-childhood-neurodegenerative-disorder
#10
E Savchenko, Y Singh, H Konttinen, K Lejavova, L Mediavilla Santos, A Grubman, V Kärkkäinen, V Keksa-Goldsteine, N Naumenko, P Tavi, A R White, T M Malm, J Koistinaho, K M Kanninen
Neural stem/progenitor cells (NPCs) generate new neurons in the brain throughout the lifetime in an intricate process called neurogenesis. Neurogenic alterations are a common feature of several adult-onset neurodegenerative diseases. The neuronal ceroid lipofuscinoses (NCLs) are the most common group of inherited neurodegenerative diseases that mainly affect children. Pathological features of the NCLs include accumulation of lysosomal storage material, neuroinflammation, and neuronal degeneration, yet the exact cause of this group of diseases remains poorly understood...
July 21, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28733327/cenp-a-and-topoisomerase-ii-antagonistically-affect-chromosome-length
#11
A-M Ladouceur, Rajesh Ranjan, Lydia Smith, Tanner Fadero, Jennifer Heppert, Bob Goldstein, Amy Shaub Maddox, Paul S Maddox
The size of mitotic chromosomes is coordinated with cell size in a manner dependent on nuclear trafficking. In this study, we conducted an RNA interference screen of the Caenorhabditis elegans nucleome in a strain carrying an exceptionally long chromosome and identified the centromere-specific histone H3 variant CENP-A and the DNA decatenizing enzyme topoisomerase-II (topo-II) as candidate modulators of chromosome size. In the holocentric organism C. elegans, CENP-A is positioned periodically along the entire length of chromosomes, and in mitosis, these genomic regions come together linearly to form the base of kinetochores...
July 21, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28731844/outcome-by-gender-in-the-veterans-health-administration-motivating-overweight-obese-veterans-everywhere-weight-management-program
#12
Bryan C Batch, Karen Goldstein, William S Yancy, Linda L Sanders, Susanne Danus, Steven C Grambow, Hayden B Bosworth
BACKGROUND: Few evaluations of the Veterans Health Administration Motivating Overweight/Obese Veterans Everywhere (MOVE!) weight management program have assessed 6-month weight change or factors associated with weight change by gender. MATERIALS AND METHODS: Analysis of administrative data from a national sample of veterans in the VA MOVE! PROGRAM: HASH(0x3b96ef8) RESULTS: A total of 62,882 participants were included, 14...
July 21, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28730704/the-athena-hpv-study-underrepresents-other-high-risk-hpv-genotypes-when-compared-with-a-diverse-new-york-city-population
#13
G Ramos Rivera, S N Khader, S Lajara, K Schlesinger, D Y Goldstein, R C Naeem, M J Suhrland, A S Fox
OBJECTIVE: Persistent infection with oncogenic high risk HPV (hrHPV) types causes virtually all cases of cervical cancer. HPV 16 and 18 have been targeted for individual genotyping and vaccination because of their presence in 71% of invasive cervical cancers worldwide. Montefiore Medical Center, Bronx, New York serves a population known for ethnic and racial diversity. Given this diversity it is possible that HPV genotypes not individually detected by current testing are causing significant disease...
July 21, 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/28730561/men-experience-higher-risk-of-pneumonia-and-death-after-intracerebral-hemorrhage
#14
Sandro Marini, Andrea Morotti, Umme K Lena, Joshua N Goldstein, Steven M Greenberg, Jonathan Rosand, Christopher D Anderson
BACKGROUND: Infectious complications worsen outcome after intracerebral hemorrhage (ICH). We investigated the impact of sex on post-ICH infections and mortality. METHODS: Consecutive ICH patients (admitted to a single hospital between 1994 and 2015) were retrospectively assessed via chart review to ascertain the following in-hospital infections: urinary tract infection (UTI), pneumonia, and sepsis. Adjusted logistic regression was performed to identify associations between sex, infection, and mortality at 90 days...
July 20, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28730267/phantom-based-standardization-of-ct-angiography-images-for-spot-sign-detection
#15
Andrea Morotti, Javier M Romero, Michael J Jessel, Andrew M Hernandez, Anastasia Vashkevich, Kristin Schwab, Joseph D Burns, Qaisar A Shah, Thomas A Bergman, M Fareed K Suri, Mustapha Ezzeddine, Jawad F Kirmani, Sachin Agarwal, Angela Hays Shapshak, Steven R Messe, Chitra Venkatasubramanian, Katherine Palmieri, Christopher Lewandowski, Tiffany R Chang, Ira Chang, David Z Rose, Wade Smith, Chung Y Hsu, Chun-Lin Liu, Li-Ming Lien, Chen-Yu Hsiao, Toru Iwama, Mohammad Rauf Afzal, Christy Cassarly, Steven M Greenberg, Renee' Hebert Martin, Adnan I Qureshi, Jonathan Rosand, John M Boone, Joshua N Goldstein
PURPOSE: The CT angiography (CTA) spot sign is a strong predictor of hematoma expansion in intracerebral hemorrhage (ICH). However, CTA parameters vary widely across centers and may negatively impact spot sign accuracy in predicting ICH expansion. We developed a CT iodine calibration phantom that was scanned at different institutions in a large multicenter ICH clinical trial to determine the effect of image standardization on spot sign detection and performance. METHODS: A custom phantom containing known concentrations of iodine was designed and scanned using the stroke CT protocol at each institution...
July 20, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28730144/molecular-characterization-of-the-human-stomach-microbiota-in-gastric-cancer-patients
#16
Guoqin Yu, Javier Torres, Nan Hu, Rafael Medrano-Guzman, Roberto Herrera-Goepfert, Michael S Humphrys, Lemin Wang, Chaoyu Wang, Ti Ding, Jacques Ravel, Philip R Taylor, Christian C Abnet, Alisa M Goldstein
Helicobacter pylori (Hp) is the primary cause of gastric cancer but we know little of its relative abundance and other microbes in the stomach, especially at the time of gastric cancer diagnosis. Here we characterized the taxonomic and derived functional profiles of gastric microbiota in two different sets of gastric cancer patients, and compared them with microbial profiles in other body sites. Paired non-malignant and tumor tissues were sampled from 160 gastric cancer patients with 80 from China and 80 from Mexico...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28724738/early-life-manipulations-of-vasopressin-family-peptides-alter-vocal-learning
#17
Nicole M Baran, Samantha C Peck, Tabitha H Kim, Michael H Goldstein, Elizabeth Adkins-Regan
Vocal learning from social partners is crucial for the successful development of communication in a wide range of species. Social interactions organize attention and enhance motivation to learn species-typical behaviour. However, the neurobiological mechanisms connecting social motivation and vocal learning are unknown. Using zebra finches (Taeniopygia guttata), a ubiquitous model for vocal learning, we show that manipulations of nonapeptide hormones in the vasopressin family (arginine vasotocin, AVT) early in development can promote or disrupt both song and social motivation...
July 26, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28723461/inflammatory-markers-have-a-role-in-renal-cell-carcinoma-prognosis
#18
Paul de Souza, Wei Chua, Stephen Clarke, David Goldstein, Chee Lee
No abstract text is available yet for this article.
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28717861/patient-perspectives-on-gene-transfer-therapy-for-sickle-cell-disease
#19
Heather Strong, Monica J Mitchell, Alana Goldstein-Leever, Lisa Shook, Punam Malik, Lori E Crosby
INTRODUCTION: Sickle cell disease (SCD) is a chronic genetic disease with high morbidity and early mortality; it affects nearly 100,000 individuals in the USA. Bone marrow transplantation, the only curative treatment, is available to less than 20% of patients because of a number of access barriers. Gene transfer therapy (GTT) has been shown to be curative in animal models and is approved for use in humans for early-phase studies at a few centers. GTT would offer a more accessible treatment option available to all patients...
July 17, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28717741/patient-reported-burden-of-a-neuroendocrine-tumor-net-diagnosis-results-from-the-first-global-survey-of-patients-with-nets
#20
Simron Singh, Dan Granberg, Edward Wolin, Richard Warner, Maia Sissons, Teodora Kolarova, Grace Goldstein, Marianne Pavel, Kjell Öberg, John Leyden
PURPOSE: Despite the considerable impact of neuroendocrine tumors (NETs) on patients' daily lives, the journey of the patient with a NET has rarely been documented, with published data to date being limited to small qualitative studies. NETs are heterogeneous malignancies with nonspecific symptomology, leading to extensive health care use and diagnostic delays that affect survival. A large, international patient survey was conducted to increase understanding of the experience of the patient with a NET and identify unmet needs, with the aim of improving disease awareness and care worldwide...
February 2017: Journal of Global Oncology
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