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https://www.readbyqxmd.com/read/29686641/being-strange-while-being-no-one
#1
Ulrike S Pompe-Alama
No abstract text is available yet for this article.
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29685979/the-past-and-presence-of-gene-targeting-from-chemicals-and-dna-via-proteins-to-rna
#2
REVIEW
T M Geel, M H J Ruiters, R H Cool, L Halby, D C Voshart, L Andrade Ruiz, K E Niezen-Koning, P B Arimondo, M G Rots
The ability to target DNA specifically at any given position within the genome allows many intriguing possibilities and has inspired scientists for decades. Early gene-targeting efforts exploited chemicals or DNA oligonucleotides to interfere with the DNA at a given location in order to inactivate a gene or to correct mutations. We here describe an example towards correcting a genetic mutation underlying Pompe's disease using a nucleotide-fused nuclease (TFO-MunI). In addition to the promise of gene correction, scientists soon realized that genes could be inactivated or even re-activated without inducing potentially harmful DNA damage by targeting transcriptional modulators to a particular gene...
June 5, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29680633/multiplex-tandem-mass-spectrometry-assay-for-newborn-screening-of-x-linked-adrenoleukodystrophy-biotinidase-deficiency-and-galactosemia-with-flexibility-to-assay-other-enzyme-assays-and-biomarkers
#3
Xinying Hong, Arun Babu Kumar, C Ronald Scott, Michael H Gelb
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as to improve the current protocol for newborn screening of galactosemia.A 3 mm punch of a dried blood spot (DBS) was extracted with organic solvent for analysis of the C26:0-lysophosphatidylcholine biomarker for X-ALD...
March 29, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29663462/survival-benefit-of-local-versus-no-local-treatment-for-metastatic-prostate-cancer-impact-of-baseline-psa-and-metastatic-substages
#4
Raisa S Pompe, Derya Tilki, Felix Preisser, Sami-Ramzi Leyh-Bannurah, Marco Bandini, Michele Marchioni, Philipp Gild, Zhe Tian, Nicola Fossati, Luca Cindolo, Shahrokh F Shariat, Hartwig Huland, Markus Graefen, Alberto Briganti, Pierre I Karakiewicz
BACKGROUND: To test whether local treatment (LT), namely radical prostatectomy (RP) or brachytherapy (BT) still confers a survival benefit versus no local treatment (NLT), when adjusted for baseline PSA (bPSA). To further examine whether the effect of LT might be modulated according to bPSA and M1 substages. METHODS: Of 13 906 mPCa patients within the SEER (2004-2014), 375 underwent RP, 175 BT, and 13 356 NLT. Multivariable competing risks regression (MVA CRR) analyses after 1:2 propensity score matching assessed the impact of LT versus NLT on cancer specific mortality (CSM)...
April 16, 2018: Prostate
https://www.readbyqxmd.com/read/29661738/overexpression-of-lox-in-triple-negative-breast-cancer
#5
Cornelia Leo, Christine Cotic, Victoria Pomp, Daniel Fink, Zsuzsanna Varga
BACKGROUND: Triple negative breast cancer (TNBC) accounts for approximately 15% of breast cancers. It is associated with a poor prognosis and typically earlier onset of metastasis in comparison with other breast cancer subtypes. Since TNBC lacks the expression of estrogen and progesterone receptors and Her2 status is also negative, there is currently no target that can be used for systemic therapy. Epithelial-mesenchymal transition (EMT) plays an important role in tumor progression and metastasis...
March 27, 2018: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29655528/a-mobile-app-for-patients-with-pompe-disease-and-its-possible-clinical-applications
#6
Giulia Ricci, Sigrid Baldanzi, Fabrizio Seidita, Chiara Proietti, Francesca Carlini, Silvia Peviani, Giovanni Antonini, Andrea Vianello, Gabriele Siciliano
In recent years, the potential of smart technology to provide innovative solutions for disease management has raised high expectations for patients' and healthcare professionals' community. We developed a mobile app, called AIGkit, specifically designed for adult patients with Pompe disease, with the aim to help them manage the burden of illness-related factors, and also to provide clinicians with continuous tracking of each patient in real-time and ambient conditions of everyday life. We present the AIGkit as an innovative approach exploiting cutting-edge technology to improve quality of care and research into neuromuscular disorders...
March 12, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29649469/phosphatidylserine-is-not-just-a-cleanup-crew-but-also-a-well-meaning-teacher
#7
Fiona Y Glassman, Jennifer L Schneider, Radha Ramakrishnan, Robert K Dingman, Murali Ramanathan, Richard B Bankert, Sathy V Balu-Iyer
Phosphatidylserine (PS) exposure during apoptosis leads to silent clearance of cells without adverse immune reactions to self-proteins. Given the biological functions of PS in cellular cleanup and global immunosuppression, we hypothesized that administration of PS-protein complexes would reduce immunogenicity. Here, we report that exposing Pompe disease mice to acid alpha glucosidase (rhGAA) with PS or immunosuppressant dexamethasone (Dex) resulted in lower anti-rhGAA-antibodies than in animals receiving rhGAA alone...
April 9, 2018: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29627187/severe-cardiac-involvement-is-rare-in-patients-with-late-onset-pompe-disease-and-the-common-c-32-13t-g-variant-implications-for-newborn-screening
#8
Mrudu Herbert, Heidi Cope, Jennifer S Li, Priya S Kishnani
Based on a review of a large patient cohort, published literature, and 3 newborn screening cohorts, we concluded that children diagnosed through newborn screening with late-onset Pompe disease and the common heterozygous c.-32-13T>G variant require frequent cardiac follow-up with electrocardiography for arrhythmias. However, there is limited evidence for performing repeated echocardiography for cardiomyopathy.
April 4, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29607951/efficacy-of-vonoprazan-for-gastroesophageal-reflux-symptoms-in-patients-with-proton-pump-inhibitor-resistant-non-erosive-reflux-disease
#9
Ryota Niikura, Atsuo Yamada, Yoshihiro Hirata, Yoku Hayakawa, Akihiro Takahashi, Tomohiro Shinozaki, Yoshinori Takeuchi, Mitsuhiro Fujishiro, Kazuhiko Koike
Objective Clinically, patients with proton pomp inhibitor (PPI)-resistant gastro-esophageal reflux disease (GERD) are very challenging to treat. The aim of this study was to determine the rates of symptom relief and adverse events among PPI-resistant GERD patients that changed their therapy from a PPI to vonoprazan. Methods Patients with severe gastroesophageal reflux symptoms (total GERD-Q score ≥8) without endoscopic findings of mucosal breaks who changed their medication from a PPI to vonoprazan during a 12-week period from 2015 to 2016 at 2 hospitals were selected...
March 30, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29603918/the-effect-of-age-on-cancer-specific-mortality-in-patients-with-small-renal-masses-a-population-based-analysis
#10
Marco Bandini, Michele Marchioni, Raisa S Pompe, Zhe Tian, Tristan Martel, Felix K Chun, Luca Cindolo, Anil Kapoor, Francesco Montorsi, Shahrokh F Shariat, Alberto Briganti, Pierre I Karakiewicz
INTRODUCTION: Contemporary data regarding the effect of age, especially in the elderly patients, on cancer-specific mortality (CSM) for pT1a renal cell cancer (RCC) are lacking. The objective of the current study is to evaluate CSM in a large population-based cohort of surgically treated pT1a RCC patients according to age groups. METHODS: Within the Surveillance Epidemiology and End Results database (2000-2013), we identified 37 121 pT1a RCC patients who underwent either partial or radical nephrectomy...
March 19, 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29603727/novel-pompe-disease-phenotype-a-treatment-related-modified-phenotype-neglecting-the-brain
#11
Benedikt Schoser
No abstract text is available yet for this article.
March 30, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29601931/systems-for-localized-release-to-mimic-paracrine-cell-communication-in-vitro
#12
REVIEW
Michael Ansorge, Tilo Pompe
Paracrine cell communication plays a pivotal role for signal exchange between proximal cells in vivo. However, this localized, gradient type release of mediators at very low concentrations (pg/ml), relevant during physiological and pathological processes, is rarely reflected within in vitro approaches. This review gives an overview on state-of-the-art approaches, which transfer the paracrine cell-to-cell communication into in vitro cell culture model setups. The traditional methods like trans-well assays and more advanced microfluidic approaches are included...
March 27, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29594646/newborn-screening-for-pompe-disease-impact-on-families
#13
B Pruniski, E Lisi, N Ali
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29582100/the-impact-of-time-to-catheter-removal-on-short-intermediate-and-long-term-urinary-continence-after-radical-prostatectomy
#14
Derya Tilki, Felix Preisser, Pierre Karakiewicz, Shahrokh F Shariat, Markus Graefen, Hartwig Huland, Felix K Chun, Raisa S Pompe
PURPOSE: To assess the impact of prolonged catheterization time on 1-week (short-term), 3-month (intermediate-term) and 1-year (long-term) UC. METHODS: Between 2008 and 2015, 6918 men underwent RP by four high-volume surgeons. Exclusion criteria were baseline urinary incontinence (UI) and radiotherapy prior or within 12 months after RP. For the remaining 4111 patients, data on short-, intermediate- and long-term UC were available for 3989, 2490 and 1967 patients, respectively...
March 26, 2018: World Journal of Urology
https://www.readbyqxmd.com/read/29576315/liver-induced-transgene-tolerance-with-aav-vectors
#15
REVIEW
Geoffrey D Keeler, David M Markusic, Brad E Hoffman
Immune tolerance is a vital component of immunity, as persistent activation of immune cells causes significant tissue damage and loss of tolerance leads to autoimmunity. Likewise, unwanted immune responses can occur in inherited disorders, such as hemophilia and Pompe disease, in which patients lack any expression of protein, during treatment with enzyme replacement therapy, or gene therapy. While the liver has long been known as being tolerogenic, it was only recently appreciated in the last decade that liver directed adeno-associated virus (AAV) gene therapy can induce systemic tolerance to a transgene...
December 5, 2017: Cellular Immunology
https://www.readbyqxmd.com/read/29575534/perioperative-management-of-children-with-glycogen-storage-disease-type-ii-pompe-disease
#16
Linelot Bosman, Sanne E Hoeks, Antonia González Candel, Hannerieke J M van den Hout, Ans T van der Ploeg, Lonneke M Staals
BACKGROUND: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and cardiomyopathy. As life expectancy has much improved since the introduction of enzyme replacement therapy an increasing number of patients are referred for surgical procedures. Due to the potential cardiopulmonary complications, these patients form a high-risk group for the anesthesiologist...
March 25, 2018: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29573408/classic-infantile-pompe-patients-approaching-adulthood-a-cohort-study-on-consequences-for-the-brain
#17
Berendine J Ebbink, Esther Poelman, Femke K Aarsen, Iris Plug, Luc Régal, Carsten Muentjes, Nadine A M E van der Beek, Maarten H Lequin, Ans T van der Ploeg, Johanna M P van den Hout
AIM: To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. METHOD: Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years. RESULTS: From approximately age 2 years onwards, brain MRI showed involvement of the periventricular white matter and centrum semiovale...
March 24, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29572963/local-treatment-for-metastatic-prostate-cancer-a-systematic-review
#18
REVIEW
Derya Tilki, Raisa S Pompe, Marco Bandini, Michele Marchioni, Alexander Kretschmer, Zhe Tian, Pierre I Karakiewicz, Christopher P Evans
The potential oncological benefit for radical treatment in the setting of oligometastatic prostate cancer has been under investigation and is frequently discussed. We carried out a systematic review of English language articles using the Medline database (January 2000 to May 2017) to identify studies reporting local treatment in men with metastatic prostate cancer at diagnosis. Primary end-points were oncological outcomes, such as cancer-specific and overall mortality. Secondary end-points were non-oncological outcomes, such as complications, operating room time, blood loss or length of hospital stay...
March 23, 2018: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/29571305/determination-of-biogenic-amines-in-cheese-by-ion-chromatography-with-tandem-mass-spectrometry-detection
#19
Andrej Ščavničar, Irena Rogelj, Drago Kočar, Sevim Kӧse, Matevž Pompe
A new method for determination of underivatized biogenic amines in cheese based on ion exchange chromatographycoupled with tandem mass spectrometric detection was proposed. The method was applied to the analysis of 10 biogenic amines (trimethylamine, putrescine, cadaverine, histamine, 2-phenylethylamine, spermine, spermidine, tryptamine, agmatine, and tyramine) in different types of cheese. The amines were extracted only with water without any additional derivatization step or sample cleanup. This is a great advantage in terms of simplicity of sample pretreatment procedure compared with other currently existing methods in the literature...
March 23, 2018: Journal of AOAC International
https://www.readbyqxmd.com/read/29570821/long-term-cancer-control-outcomes-in-patients-with-biochemical-recurrence-and-the-impact-of-time-from-radical-prostatectomy-to-biochemical-recurrence
#20
Raisa S Pompe, Philipp Gild, Pierre I Karakiewicz, Lea-Philine Bock, Thorsten Schlomm, Thomas Steuber, Markus Graefen, Hartwig Huland, Zhe Tian, Derya Tilki
BACKGROUND: Rates of metastatic progression (MP) and prostate cancer mortality (PCSM) are variable after biochemical recurrence (BCR) in patients who underwent radical prostatectomy (RP). To describe long-term oncological outcomes of BCR patients and to analyze risk factors for further outcomes in these men with a special focus on RP-BCR time. METHODS: We retrospectively analyzed the data of 5509 RP patients treated between 1992 and 2006. Of those, we included 1321 patients who experienced BCR (PSA level ≥0...
March 23, 2018: Prostate
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