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https://www.readbyqxmd.com/read/28499369/characterization-of-a-splice-site-mutation-in-the-tumor-suppressor-gene-flcn-associated-with-renal-cancer
#1
Malte P Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B Beck, Roman-Ulrich Müller
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma...
May 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28400537/yap-mediated-mechanotransduction-determines-the-podocyte-s-response-to-damage
#2
Markus M Rinschen, Florian Grahammer, Ann-Kathrin Hoppe, Priyanka Kohli, Henning Hagmann, Oliver Kretz, Sabine Bertsch, Martin Höhne, Heike Göbel, Malte P Bartram, Rajesh Kumar Gandhirajan, Marcus Krüger, Paul-Thomas Brinkkoetter, Tobias B Huber, Martin Kann, Sara A Wickström, Thomas Benzing, Bernhard Schermer
Podocytes are terminally differentiated cells of the kidney filtration barrier. They are subjected to physiological filtration pressure and considerable mechanical strain, which can be further increased in various kidney diseases. When injury causes cytoskeletal reorganization and morphological alterations of these cells, the filtration barrier may become compromised and allow proteins to leak into the urine (a condition called proteinuria). Using time-resolved proteomics, we showed that podocyte injury stimulated the activity of the transcriptional coactivator YAP and the expression of YAP target genes in a rat model of glomerular disease before the development of proteinuria...
April 11, 2017: Science Signaling
https://www.readbyqxmd.com/read/28364132/challenges-in-establishing-genotype-phenotype-correlations-in-arpkd-case-report-on-a-toddler-with-two-severe-pkhd1-mutations
#3
Kathrin Ebner, Claudia Dafinger, Nadina Ortiz-Bruechle, Friederike Koerber, Bernhard Schermer, Thomas Benzing, Jörg Dötsch, Klaus Zerres, Lutz Thorsten Weber, Bodo B Beck, Max Christoph Liebau
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) constitutes an important cause of pediatric end stage renal disease and is characterized by a broad phenotypic variability. The disease is caused by mutations in a single gene, Polycystic Kidney and Hepatic Disease 1 (PKHD1), which encodes a large transmembrane protein of poorly understood function called fibrocystin. Based on current knowledge of genotype-phenotype correlations in ARPKD, two truncating mutations are considered to result in a severe phenotype with peri- or neonatal mortality...
March 31, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28282587/feasibility-of-magnetic-marker-localisation-for-non-palpable-breast-cancer
#4
B Schermers, J A van der Hage, C E Loo, M T F D Vrancken Peeters, H A O Winter-Warnars, F van Duijnhoven, B Ten Haken, S H Muller, T J M Ruers
OBJECTIVES: Accurate tumour localisation is essential for breast-conserving surgery of non-palpable tumours. Current localisation technologies are associated with disadvantages such as logistical challenges and migration issues (wire guided localisation) or legislative complexities and high administrative burden (radioactive localisation). We present MAgnetic MArker LOCalisation (MaMaLoc), a novel technology that aims to overcome these disadvantages using a magnetic marker and a magnetic detection probe...
March 7, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28025920/impact-of-overactive-bladder-step-therapy-policies-on-medication-utilization-and-expenditures-among-treated-medicare-members
#5
Ibrahim M Abbass, Eleanor O Caplan, Daniel B Ng, Rita Kristy, Carol R Schermer, Pamela Bradt, Jenna M Collins, Wai Man Maria Chan, Brandon T Suehs
BACKGROUND: The impact of formulary management strategies on utilization and expenditures in overactive bladder (OAB) treatment has not been extensively investigated. In 2013, step therapy (ST) policies for 2 branded OAB treatments, mirabegron and fesoterodine, were removed from Humana Medicare Advantage Prescription Drug (MAPD) plans and Medicare prescription drug plans (PDP), allowing for an examination of the effect of ST policies on OAB medication use patterns and costs. OBJECTIVE: To assess the impact of removal of formulary restriction policies for mirabegron and fesoterodine on medication utilization patterns and costs associated with OAB treatment in Medicare patients...
January 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/27508243/dataset-and-standard-operating-procedure-for-newborn-screening-of-six-lysosomal-storage-diseases-by-tandem-mass-spectrometry
#6
Susan Elliott, Norman Buroker, Jason J Cournoyer, Anna M Potier, Joseph D Trometer, Carole Elbin, Mack J Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H Gelb, C Ronald Scott
In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016) [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes...
September 2016: Data in Brief
https://www.readbyqxmd.com/read/27357545/quantitative-deep-mapping-of-the-cultured-podocyte-proteome-uncovers-shifts-in-proteostatic-mechanisms-during-differentiation
#7
Markus M Rinschen, Christina B Schroeter, Sybille Koehler, Christina Ising, Bernhard Schermer, Martin Kann, Thomas Benzing, Paul T Brinkkoetter
The renal filtration barrier is maintained by the renal podocyte, an epithelial postmitotic cell. Immortalized mouse podocyte cell lines-both in the differentiated and undifferentiated state-are widely utilized tools to estimate podocyte injury and cytoskeletal rearrangement processes in vitro. Here, we mapped the cultured podocyte proteome at a depth of more than 8,800 proteins and quantified 7,240 proteins. Copy numbers of proteins mutated in forms of hereditary nephrotic syndrome or focal segmental glomerulosclerosis (FSGS) were assessed...
September 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27238910/pilot-study-of-newborn-screening-for-six-lysosomal-storage-diseases-using-tandem-mass-spectrometry
#8
Susan Elliott, Norman Buroker, Jason J Cournoyer, Anna M Potier, Joseph D Trometer, Carole Elbin, Mack J Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H Gelb, C Ronald Scott
BACKGROUND: There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE: To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic activity assay of 6 lysosomal enzymes in a NBS laboratory for the identification of newborns at risk for developing Pompe, Mucopolysaccharidosis-I (MPS-I), Fabry, Gaucher, Niemann Pick-A/B, and Krabbe diseases...
August 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27044486/identifying-patients-at-risk-for-severe-exacerbations-of-asthma-development-and-external-validation-of-a-multivariable-prediction-model
#9
RANDOMIZED CONTROLLED TRIAL
Rik J B Loymans, Persijn J Honkoop, Evelien H Termeer, Jiska B Snoeck-Stroband, Willem J J Assendelft, Tjard R J Schermer, Kian Fan Chung, Ana R Sousa, Peter J Sterk, Helen K Reddel, Jacob K Sont, Gerben Ter Riet
BACKGROUND: Preventing exacerbations of asthma is a major goal in current guidelines. We aimed to develop a prediction model enabling practitioners to identify patients at risk of severe exacerbations who could potentially benefit from a change in management. METHODS: We used data from a 12-month primary care pragmatic trial; candidate predictors were identified from GINA 2014 and selected with a multivariable bootstrapping procedure. Three models were constructed, based on: (1) history, (2) history+spirometry and (3) history+spirometry+FeNO...
September 2016: Thorax
https://www.readbyqxmd.com/read/26792178/the-ubiquitin-ligase-ubr4-controls-stability-of-podocin-mec-2-supercomplexes
#10
Markus M Rinschen, Puneet Bharill, Xiongwu Wu, Priyanka Kohli, Matthäus J Reinert, Oliver Kretz, Isabel Saez, Bernhard Schermer, Martin Höhne, Malte P Bartram, Sriram Aravamudhan, Bernard R Brooks, David Vilchez, Tobias B Huber, Roman-Ulrich Müller, Marcus Krüger, Thomas Benzing
The PHB-domain protein podocin maintains the renal filtration barrier and its mutation is an important cause of hereditary nephrotic syndrome. Podocin and its Caenorhabditis elegans orthologue MEC-2 have emerged as key components of mechanosensitive membrane protein signalling complexes. Whereas podocin resides at a specialized cell junction at the podocyte slit diaphragm, MEC-2 is found in neurons required for touch sensitivity. Here, we show that the ubiquitin ligase Ubr4 is a key component of the podocin interactome purified both from cultured podocytes and native glomeruli...
April 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26740551/three-layered-proteomic-characterization-of-a-novel-actn4-mutation-unravels-its-pathogenic-potential-in-fsgs
#11
Malte P Bartram, Sandra Habbig, Caroline Pahmeyer, Martin Höhne, Lutz T Weber, Holger Thiele, Janine Altmüller, Nina Kottoor, Andrea Wenzel, Marcus Krueger, Bernhard Schermer, Thomas Benzing, Markus M Rinschen, Bodo B Beck
Genetic diseases constitute the most important cause for end-stage renal disease in children and adolescents. Mutations in the ACTN4 gene, encoding the actin-binding protein α-actinin-4, are a rare cause of autosomal dominant familial focal segmental glomerulosclerosis (FSGS). Here, we report the identification of a novel, disease-causing ACTN4 mutation (p.G195D, de novo) in a sporadic case of childhood FSGS using next generation sequencing. Proteome analysis by quantitative mass spectrometry (MS) of patient-derived urinary epithelial cells indicated that ACTN4 levels were significantly decreased when compared with healthy controls...
March 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26268269/the-nf-%C3%AE%C2%BAb-essential-modulator-nemo-controls-podocyte-cytoskeletal-dynamics-independently-of-nf-%C3%AE%C2%BAb
#12
Sebastian Brähler, Christina Ising, Belén Barrera Aranda, Martin Höhne, Bernhard Schermer, Thomas Benzing, Paul Thomas Brinkkoetter
Maintenance of the glomerular filtration barrier with its fenestrated endothelium, the glomerular basement membrane, and the podocytes as the outer layer, is a major prerequisite for proper renal function. Tight regulation of the balance between plasticity and rigidity of the podocytes' architecture is required to prevent the onset of glomerular disease, mainly proteinuria. The underlying cellular signaling pathways that regulate the organization of the podocytes' cytoskeleton are still a matter of controversial debate...
October 1, 2015: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/25803514/does-saline-resuscitation-affect-mechanisms-of-coagulopathy-in-critically-ill-trauma-patients-an-exploratory-analysis
#13
COMPARATIVE STUDY
Caitlin A Smith, Robert C Gosselin, Garth H Utter, Joseph M Galante, Jason B Young, Lynette A Scherer, Carol R Schermer
Metabolic acidosis has been implicated in the development of coagulopathy, although the specific mechanisms have not been well characterized. We sought to explore whether resuscitation of injured patients with a balanced crystalloid solution affects coagulation, as measured by endogenous thrombin potential (ETP) and thromboelastography (TEG). We performed an exploratory analysis of a subset of subjects enrolled in a randomized trial comparing the effect of resuscitation with isotonic saline versus Plasma-Lyte A (PLA) on acidosis and electrolyte abnormalities...
April 2015: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/25419847/daf-16-foxo-and-egl-27-gata-promote-developmental-growth-in-response-to-persistent-somatic-dna-damage
#14
Michael M Mueller, Laia Castells-Roca, Vipin Babu, Maria A Ermolaeva, Roman-Ulrich Müller, Peter Frommolt, Ashley B Williams, Sebastian Greiss, Jennifer I Schneider, Thomas Benzing, Bernhard Schermer, Björn Schumacher
Genome maintenance defects cause complex disease phenotypes characterized by developmental failure, cancer susceptibility and premature ageing. It remains poorly understood how DNA damage responses function during organismal development and maintain tissue functionality when DNA damage accumulates with ageing. Here we show that the FOXO transcription factor DAF-16 is activated in response to DNA damage during development, whereas the DNA damage responsiveness of DAF-16 declines with ageing. We find that in contrast to its established role in mediating starvation arrest, DAF-16 alleviates DNA-damage-induced developmental arrest and even in the absence of DNA repair promotes developmental growth and enhances somatic tissue functionality...
December 2014: Nature Cell Biology
https://www.readbyqxmd.com/read/25174865/symptom-and-fraction-of-exhaled-nitric-oxide-driven-strategies-for-asthma-control-a-cluster-randomized-trial-in-primary-care
#15
RANDOMIZED CONTROLLED TRIAL
Persijn J Honkoop, Rik J B Loijmans, Evelien H Termeer, Jiska B Snoeck-Stroband, Wilbert B van den Hout, Moira J Bakker, Willem J J Assendelft, Gerben ter Riet, Peter J Sterk, Tjard R J Schermer, Jacob K Sont
BACKGROUND: Aiming at partly controlled asthma (PCa) instead of controlled asthma (Ca) might decrease asthma medication use. Biomarkers, such as the fraction of exhaled nitric oxide (Feno), allow further tailoring of treatment. OBJECTIVE: We sought to assess the cost-effectiveness and clinical effectiveness of pursuing PCa, Ca, or Feno-driven controlled asthma (FCa). METHODS: In a nonblind, pragmatic, cluster-randomized trial in primary care, adults (18-50 years of age) with a doctor's diagnosis of asthma who were prescribed inhaled corticosteroids were allocated to one of 3 treatment strategies: (1) aiming at PCa (Asthma Control Questionnaire [ACQ] score <1...
March 2015: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/24578126/the-cleaved-cytoplasmic-tail-of-polycystin-1-regulates-src-dependent-stat3-activation
#16
Jeffrey J Talbot, Xuewen Song, Xiaofang Wang, Markus M Rinschen, Nicholas Doerr, Wells B LaRiviere, Bernhard Schermer, York P Pei, Vicente E Torres, Thomas Weimbs
Polycystin-1 (PC1) mutations result in proliferative renal cyst growth and progression to renal failure in autosomal dominant polycystic kidney disease (ADPKD). The transcription factor STAT3 (signal transducer and activator of transcription 3) was shown to be activated in cyst-lining cells in ADPKD and PKD mouse models and may drive renal cyst growth, but the mechanisms leading to persistent STAT3 activation are unknown. A proteolytic fragment of PC1 corresponding to the cytoplasmic tail, PC1-p30, is overexpressed in ADPKD...
August 2014: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/24553532/the-effect-on-problematic-drinking-behavior-of-a-brief-motivational-interview-shortly-after-a-first-arrest-for-driving-under-the-influence-of-alcohol-a-randomized-trial
#17
Garth H Utter, Jason B Young, Leslie A Theard, David M Cropp, Craig J Mohar, Daniel Eisenberg, Carol R Schermer, Leon J Owens
BACKGROUND: In medical settings, motivational interviewing-based "brief intervention" (BI) counseling reduces alcohol-related risk-taking behavior and harm in high-risk populations. Individuals arrested for driving under the influence of alcohol (DUI) are another at-risk population. We sought to determine whether a BI administered shortly after a first DUI arrest might decrease problematic drinking behavior. METHODS: We conducted a single-center, parallel-group, double-blinded superiority randomized trial (NCT01270217), enrolling first-time DUI arrestees at a county jail from December 2010 through April 2011...
March 2014: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/24112670/use-of-ketorolac-is-associated-with-decreased-pneumonia-following-rib-fractures
#18
RANDOMIZED CONTROLLED TRIAL
Yifan Yang, Jason B Young, Carol R Schermer, Garth H Utter
BACKGROUND: The effectiveness of the nonsteroidal anti-inflammatory drug ketorolac in reducing pulmonary morbidity after rib fractures remains largely unknown. METHODS: A retrospective cohort study was conducted spanning January 2003 to June 2011 assessing pneumonia within 30 days and potential adverse effects of ketorolac among all patients with rib fractures who received ketorolac <4 days after injury compared with a random sample of those who did not. RESULTS: Among 202 patients who received ketorolac and 417 who did not, ketorolac use was associated with decreased pneumonia (odds ratio, ...
April 2014: American Journal of Surgery
https://www.readbyqxmd.com/read/24081870/validity-reliability-and-discriminative-capacity-of-an-electronic-quality-of-life-instrument-pelican-for-childhood-asthma-in-the-netherlands
#19
MULTICENTER STUDY
S van Bragt, L van den Bemt, B Thoonen, J Jacobs, P Merkus, T Schermer
PURPOSE: To assess psychometric properties of the Pelican instrument, an online Dutch self-administered Quality of Life instrument for childhood asthma for scientific and clinical use. METHODS: A cohort study was done in two asthma populations and healthy children. One asthma population had assessment at start, 4 and 8 weeks. The other asthma population and healthy children had one assessment. All children were aged 6-12 years. Children completed the Pelican instrument, Paediatric Asthma Quality of Life Questionnaire, feeling thermometer and Childhood Asthma Control Test...
April 2014: Quality of Life Research
https://www.readbyqxmd.com/read/23732264/saline-versus-plasma-lyte-a-in-initial-resuscitation-of-trauma-patients-a-randomized-trial
#20
RANDOMIZED CONTROLLED TRIAL
Jason B Young, Garth H Utter, Carol R Schermer, Joseph M Galante, Ho H Phan, Yifan Yang, Brock A Anderson, Lynette A Scherer
OBJECTIVE: We sought to compare resuscitation with 0.9% NaCl versus Plasma-Lyte A, a calcium-free balanced crystalloid solution, hypothesizing that Plasma-Lyte A would better correct the base deficit 24 hours after injury. BACKGROUND: Sodium chloride (0.9%) (0.9% NaCl), though often used for resuscitation of trauma patients, may exacerbate the metabolic acidosis that occurs with injury, and this acidosis may have detrimental clinical effects. METHODS: We conducted a randomized, double-blind, parallel-group trial (NCT01270854) of adult trauma patients requiring blood transfusion, intubation, or operation within 60 minutes of arrival at the University of California Davis Medical Center...
February 2014: Annals of Surgery
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