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Krabbe

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https://www.readbyqxmd.com/read/29147857/-quality-standards-for-epidemiologic-cohort-studies-an-evaluated-catalogue-of-requirements-for-the-conduct-and-preparation-of-cohort-studies
#1
Carsten Oliver Schmidt, Christine E M Krabbe, Janka Schössow, Klaus Berger, Cornelia Enzenbach, Panagiotis Kamtsiuris, Gina Schöne, Robin Houben, Christa Meisinger, Fabian Bamberg, Thomas Hendel, Sonja Selder, Michael Nonnemacher, Susanne Moebus, Jürgen Stausberg
BACKGROUND: Cohort studies are a longitudinal observational study type. They are firmly established within epidemiology to assess the course of diseases and risk factors. Yet, standards to describe and evaluate quality characteristics of cohort studies need further development. OBJECTIVE: Within the TMF ("Technologie- und Methodenplattform für die vernetzte medizinische Forschung e. V.") project "Quality management standards in cohort studies", a catalogue of requirements was compiled and evaluated, focusing on the preparation and conduct of epidemiologic cohort studies...
November 16, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/29133936/the-rho-gtpase-signalling-pathway-in-urothelial-carcinoma
#2
REVIEW
Solomon L Woldu, Ryan C Hutchinson, Laura-Maria Krabbe, Oner Sanli, Vitaly Margulis
Urothelial carcinoma remains a clinical challenge: non-muscle-invasive disease has a high rate of recurrence and risk of progression, and outcomes for patients with advanced disease are poor, owing to a lack of effective systemic therapies. The Rho GTPase family of enzymes was first identified >30 years ago and contains >20 members, which are divided into eight subfamilies: Cdc42, Rac, Rho, RhoUV, RhoBTB, RhoDF, RhoH, and Rnd. Rho GTPases are molecular on-off switches, which are increasingly being understood to have a critical role in a number of cellular processes, including cell migration, cell polarity, cell adhesion, cell cycle progression, and regulation of the cytoskeleton...
November 14, 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/29120458/precision-newborn-screening-for-lysosomal-disorders
#3
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck, Stephanie L Nett, Jason S Eckerman, Jean M Lacey, Coleman T Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29104809/mycobacterium-intracellulare-infection-mimicking-progression-of-scleroderma
#4
Simon Krabbe, Merete Engelhart, Sören Thybo, Søren Jacobsen
This case report describes a patient with scleroderma who developed Mycobacterium intracellulare infection, which for more than a year mimicked worsening of her connective tissue disorder. The patient was diagnosed with scleroderma based on puffy fingers that developed into sclerodactyly, abnormal nail fold capillaries, interstitial lung disease, Raynaud's phenomenon, esophageal dysmotility, and positivity for rheumatoid factor and anti-SSA antibodies. She developed massive inflammatory changes of the cutis, the subcutis, and the muscle fasciae of the right leg, that after several failed attempts of immunosuppressive treatments were found to be caused by Mycobacterium intracellulare...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29095858/phospholipase-a2-is-involved-in-galactosylsphingosine-induced-astrocyte-toxicity-neuronal-damage-and-demyelination
#5
Cedric Misslin, Maria Velasco-Estevez, Marie Albert, Sinead A O'Sullivan, Kumlesh K Dev
Krabbe disease is a fatal rare inherited lipid storage disorder affecting 1:100,000 births. This illness is caused by mutations in the galc gene encoding for the enzyme galactosylceramidase (GALC). Dysfunction of GALC has been linked to the toxic build-up of the galactolipid, galactosylsphingosine (psychosine), which induces cell death of oligodendrocytes. Previous studies show that phospholipase A2 (PLA2) may play a role in psychosine induce cell death. Here, we demonstrate that non-selective inhibition of cPLA2/sPLA2 and selective inhibition of cPLA2, but not sPLA2, also attenuates psychosine-induced cell death of human astrocytes...
2017: PloS One
https://www.readbyqxmd.com/read/29079210/differences-at-presentation-and-treatment-of-testicular-cancer-in-hispanic-men-institutional-and-national-hospital-based-analysis
#6
Solomon L Woldu, Ahmet M Aydin, Ashwin V Rao, Ryan C Hutchinson, Nirmish Singla, Timothy N Clinton, Laura-Maria Krabbe, Niccolo M Passoni, Ganesh V Raj, David S Miller, James F Amatruda, Arthur I Sagalowsky, Yair Lotan, Yull Arriaga, Vitaly Margulis, Aditya Bagrodia
OBJECTIVE: To describe epidemiological patterns, stage at presentation, histology, and treatment differences associated with Hispanic men diagnosed with testicular germ cell tumor (TGCT). Hispanics are the fastest growing demographic in the United States and reports suggest that the incidence of TGCT is rising most rapidly in this demographic, yet little is known about TGCTs in Hispanic patients. MATERIAL AND METHODS: We compared patient factors, tumor characteristics, treatment patterns, and outcomes of non-Hispanic white (NHW) vs...
October 24, 2017: Urology
https://www.readbyqxmd.com/read/29022088/enhancement-of-multiple-cranial-and-spinal-nerves-in-vanishing-white-matter-expanding-the-differential-diagnosis
#7
Thomas Jose Eluvathingal Muttikkal, Denia Ramirez Montealegre, Julie Ann Matsumoto
Abnormal cranial or spinal nerve contrast enhancement on MRI in cases of suspected pediatric leukodystrophy is recognized as an important clue to the diagnosis of either metachromatic leukodystrophy or globoid cell leukodystrophy (Krabbe disease). We report a case of genetically confirmed childhood vanishing white matter with enhancement of multiple cranial and spinal nerves in addition to the more typical intracranial findings. This case expands the limited differential diagnosis of cranial nerve or spinal nerve enhancement in cases of suspected leukodystrophy and may aid in more efficient work-up and earlier diagnosis of vanishing white matter...
October 12, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29017192/-horizon-scanning-in-health-care-a-german-perspective
#8
Laura Krabbe, Barbara Buchberger
Background Decision makers in health care act in an area in which expectations increase to make beneficial new technologies available as soon as possible, to protect patients from unsafe or ineffective technologies, and to expedite or decelerate technology diffusion. Horizon Scanning (HS) is a process to identify early new and emerging technologies and to inform about their potential consequences concerning the health care system. Objectives Methods of HS, worldwide existing activities and the status quo in Germany are described...
October 10, 2017: Das Gesundheitswesen
https://www.readbyqxmd.com/read/28975458/integrative-taxonomy-of-anisakid-nematodes-in-stranded-cetaceans-from-brazilian-waters-an-update-on-parasite-s-hosts-and-geographical-records
#9
Maria Isabel N Di Azevedo, Vitor L Carvalho, Alena M Iñiguez
Anisakidae are represented mainly by species of Anisakis Dujardin, 1845, Pseudoterranova Krabbe, 1878, and Contracaecum Railliet and Henry, 1913. Integrative taxonomy, based on morphological and genetic approaches, can provide a precise identification of species, increasing the knowledge of their systematics, biology, and evolution. In this study, integrative taxonomy was applied in order to identify, at generic and/or specific taxonomic level, 245 anisakids from 63 cetaceans of 12 different species, which stranded in the Brazilian coast...
November 2017: Parasitology Research
https://www.readbyqxmd.com/read/28935185/impact-of-hospital-case-volume-on-testicular-cancer-outcomes-and-practice-patterns
#10
Solomon L Woldu, Justin T Matulay, Timothy N Clinton, Nirmish Singla, Laura-Maria Krabbe, Ryan C Hutchinson, Arthur Sagalowsky, Yair Lotan, Vitaly Margulis, Aditya Bagrodia
BACKGROUND: Given the rarity of testicular germ cell tumors (TGCTs) and the complex aspects of management, we evaluate the effect of hospital TGCT case volume on overall survival outcomes and practice patterns. MATERIALS AND METHODS: The National Cancer Database was queried for patients diagnosed with seminoma or nonseminomatous germ cell tumor (NSGCT). Hospitals were classified by case volume as high (99th percentile, ≥26.1 cases annually), high-intermediate (95-99th percentile, 14...
September 18, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28934212/outcome-of-papillary-versus-clear-cell-renal-cell-carcinoma-varies-significantly-in-non-metastatic-disease
#11
MULTICENTER STUDY
Nina Wagener, Dominic Edelmann, Axel Benner, Richard Zigeuner, Hendrik Borgmann, Ingmar Wolff, Laura M Krabbe, Mireia Musquera, Paolo Dell'Oglio, Umberto Capitanio, Tobias Klatte, Luca Cindolo, Matthias May, Sabine D Brookman-May
Renal cell carcinoma (RCC) comprises a heterogenous group of tumors. Traditionally, papillary RCC (pRCC) is associated with a favorable outcome compared to clear cell RCC (ccRCC), while other series report equivalent or worse prognosis. In this paper we comparatively evaluate outcome of pRCC versus ccRCC in two large multi-institutional databases (cohort study), including distribution of pRCC subtypes 1 and 2. Retrospective data of 1,943 surgically treated pRCC patients from 17 European/ North American centers between 1984-2015 were compared to 5,600 ccRCC patients from a database comprising 11 European/ North American centers (1984-2011)...
2017: PloS One
https://www.readbyqxmd.com/read/28898395/endogenous-lipid-antigens-for-invariant-natural-killer-t-cells-hold-the-reins-in-adipose-tissue-homeostasis
#12
REVIEW
Robert J van Eijkeren, Olga Krabbe, Marianne Boes, Henk S Schipper, Eric Kalkhoven
The global obesity epidemic and its associated co-morbidities, including type 2 diabetes, cardiovascular disease and certain types of cancers, have drawn attention to the pivotal role of adipocytes in health and disease. Besides their 'classical' function in energy storage and release, adipocytes interact with adipose-tissue-resident immune cells, among which are lipid-responsive invariant natural killer T (iNKT) cells. The iNKT cells are activated by lipid antigens presented by antigen-presenting cells as CD1d/lipid complexes...
September 12, 2017: Immunology
https://www.readbyqxmd.com/read/28889654/patient-reported-health-outcomes-in-long-term-lung-transplantation-survivors-a-prospective-cohort-study
#13
A Shahabeddin Parizi, P F M Krabbe, E A M Verschuuren, R A S Hoek, J M Kwakkel-van Erp, M E Erasmus, W van der Bij, K M Vermeulen
During the last three decades lung transplantation (LTx) has become a proven modality for increasing both survival and health-related quality of life (HRQoL) in patients with various end-stage lung diseases. Most previous studies have reported improved HRQoL shortly after LTx. With regard to long-term effects on HRQoL, however, the evidence is less solid. This prospective cohort study was started with 828 patients who were on the waiting list for LTx. Then, in a longitudinal follow-up, 370 post-LTx patients were evaluated annually for up to 15 years...
September 10, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28886990/comparison-of-traditional-diabetes-risk-scores-and-hba1c-to-predict-type-2-diabetes-mellitus-in-a-population-based-cohort-study
#14
Christine Emma Maria Krabbe, Sabine Schipf, Till Ittermann, Marcus Dörr, Matthias Nauck, Jean-François Chenot, Marcello Ricardo Paulista Markus, Henry Völzke
AIMS: Compare performances of diabetes risk scores and glycated hemoglobin (HbA1c) to estimate the risk of incident type 2 diabetes mellitus (T2DM) in Northeast Germany. METHODS: We studied 2916 subjects (20 to 81years) from the Study of Health in Pomerania (SHIP) in a 5-year follow-up period. Diabetes risk scores included the Cooperative Health Research in the Region of Augsburg (KORA) base model, the Danish diabetes risk score and the Data from the Epidemiological Study on the Insulin Resistance syndrome (D...
August 1, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28859166/primate-lentiviruses-use-at-least-three-alternative-strategies-to-suppress-nf-%C3%AE%C2%BAb-mediated-immune-activation
#15
Dominik Hotter, Teresa Krabbe, Elisabeth Reith, Ali Gawanbacht, Nadia Rahm, Ahidjo Ayouba, Benoît Van Driessche, Carine Van Lint, Martine Peeters, Frank Kirchhoff, Daniel Sauter
Primate lentiviruses have evolved sophisticated strategies to suppress the immune response of their host species. For example, HIV-2 and most simian immunodeficiency viruses (SIVs) use their accessory protein Nef to prevent T cell activation and antiviral gene expression by downmodulating the T cell receptor CD3. This Nef function was lost in HIV-1 and other vpu-encoding viruses suggesting that the acquisition of Vpu-mediated NF-κB inhibition reduced the selection pressure for inhibition of T cell activation by Nef...
August 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28855407/stem-cell-transplantation-in-krabbe-disease-new-truths-discovered-and-opinions-change
#16
EDITORIAL
William D Graf
No abstract text is available yet for this article.
August 30, 2017: Neurology
https://www.readbyqxmd.com/read/28855403/developmental-outcomes-of-cord-blood-transplantation-for-krabbe-disease-a-15-year-study
#17
Matthew D Wright, Michele D Poe, Anthony DeRenzo, Shilpa Haldal, Maria L Escolar
OBJECTIVE: To describe long-term outcomes of children with early-infantile Krabbe disease who underwent hematopoietic stem cell transplantation (HSCT) in the first 7 weeks of life. METHODS: In this prospective longitudinal study, evaluations performed at baseline and follow-up included brain imaging, neurodiagnostic tests, and neurobehavioral evaluations. RESULTS: Of the 18 patients in this study (11 girls, 7 boys; mean follow-up 9.5 years, range 4-15), 5 died (3 of peritransplant complications, 1 of a surgical complication unrelated to Krabbe disease, 1 of disease progression)...
September 26, 2017: Neurology
https://www.readbyqxmd.com/read/28836063/prognostic-significance-of-fuhrman-grade-and-age-for-cancer-specific-and-overall-survival-in-patients-with-papillary-renal-cell-carcinoma-results-of-an-international-multi-institutional-study-on-2189-patients
#18
H Borgmann, M Musquera, A Haferkamp, A Vilaseca, T Klatte, S F Shariat, A Scavuzzo, M A Jimenez Rios, I Wolff, U Capitanio, P Dell'Oglio, L M Krabbe, E Herrmann, T Ecke, D Vergho, N Huck, N Wagener, S Pahernik, S Zastrow, M Wirth, C Surcel, C Mirvald, K Prochazkova, G Hutterer, R Zigeuner, L Cindolo, M Hora, C G Stief, M May, S D Brookman-May
PURPOSE: Because the prognostic impact of the clinical and pathological features on cancer-specific survival (CSS) and overall survival (OS) in patients with papillary renal cell carcinoma (papRCC) is still controversial, we want to assess the impact of clinicopathological features, including Fuhrman grade and age, on survival in surgically treated papRCC patients in a large multi-institutional series. METHODS: We established a comprehensive multi-institutional database of surgically treated papRCC patients...
August 23, 2017: World Journal of Urology
https://www.readbyqxmd.com/read/28834622/development-of-the-endoscopic-endonasal-sinus-and-skull-base-surgery-questionnaire
#19
Ellen Ten Dam, Robert A Feijen, Minke J C van den Berge, Eelco W Hoving, Jos M Kuijlen, Bernard F A M van der Laan, Karin M Vermeulen, Paul F M Krabbe, Astrid G W Korsten-Meijer
BACKGROUND: The patients' perspective of health outcomes has become important input for assessing treatment effects. However, existing endoscopic endonasal surgery (EES) instruments are not fully aligned with the concept of health-related quality of life (HRQoL). A prospective cohort study was therefore conducted to develop a suitable quality-of-life tool to assess nasal morbidity after EES: the Endoscopic Endonasal Sinus and Skull Base Surgery Questionnaire (EES-Q). METHODS: The study included 300 patients: 207 with sinus pathology and 93 with anterior skull base pathology...
August 23, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28832261/prospects-and-progress-of-immunotherapy-for-bladder-cancer
#20
Martin Boegemann, Ahmet Murat Aydin, Aditya Bagrodia, Laura-Maria Krabbe
With recent advances in immunooncology and the introduction of checkpoint inhibitors into clinical practice for many cancers, the treatment landscape of urothelial carcinoma has changed dramatically and will continue to change further. Currently, a number of compounds and combinations are under investigation in numerous clinical trials and various clinical scenarios for bladder cancer. Areas covered: In this review, the authors provide an overview of the history and rationale for immunotherapy in bladder cancer...
August 23, 2017: Expert Opinion on Biological Therapy
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