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Gout: HELP
Articles from Prague
Based on 11 articles published since 2008
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These are the 11 published articles about Gout that originated from Prague during 2008-2019.
 
+ Citations + Abstracts
1 Guideline 2016 updated EULAR evidence-based recommendations for the management of gout. 2017

Richette, P / Doherty, M / Pascual, E / Barskova, V / Becce, F / Castañeda-Sanabria, J / Coyfish, M / Guillo, S / Jansen, T L / Janssens, H / Lioté, F / Mallen, C / Nuki, G / Perez-Ruiz, F / Pimentao, J / Punzi, L / Pywell, T / So, A / Tausche, A K / Uhlig, T / Zavada, J / Zhang, W / Tubach, F / Bardin, T. ·AP-HP, hôpital Lariboisière, service de Rhumatologie, F-75010 Paris, France; Inserm, UMR1132, Hôpital Lariboisière, F-75010 Paris, France; Universitè Paris Diderot, Sorbonne Paris Citè, F-75205 Paris, France. · Academic Rheumatology, University of Nottingham, Nottingham, UK. · Department of Rheumatology, Hospital General Universitario de Alicante, Alicante, Spain. · Institute of Rheumatology RAMS, Moscow, Russia. · Department of Diagnostic and Interventional Radiology, Lausanne University Hospital, Lausanne, Switzerland. · AP-HP, Dèpartement d'Epidèmiologie et Recherche Clinique, Hôpital Bichat, Paris, France: APHP, Centre de Pharmacoèpidèmiologie, Paris, France: Univ Paris Diderot, Paris, France: INSERM UMR 1123 ECEVE, Paris, France. · Patient from Nottingham, UK, Paris. · Department of Rheumatology, VieCuri Medical Centre, Venlo, and Scientific IQ HealthCare, Radboud UMC, Nijmegen, The Netherlands. · Department of Primary and Community Care, Radboud University Medical Centre, Nijmegen, Netherlands. · Arthritis Research UK Primary Care Centre University of Keele, Keele, UK. · Osteoarticular Research Group, University of Edinburgh, Edinburgh, UK. · Seccion de Rheumatologia, Hospital de Cruces, Baracaldo, Spain. · Rheumatology Unit, Clínica Coração de Jesus, Lisbon, Portugal. · Rheumatology Unit, University of Padova, Padova, Italy. · Service de Rhumatologie, CHUV and Universitè de Lausanne, Lausanne, Switzerland. · Department of Rheumatology, University Clinic at the Technical University Dresden, Germany. · Department of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway. · Institute of Rheumatology, Prague, and Department of Rheumatology, First Faculty of Medicine, Charles University in Prague, Czech Republic. ·Ann Rheum Dis · Pubmed #27457514.

ABSTRACT: BACKGROUND: New drugs and new evidence concerning the use of established treatments have become available since the publication of the first European League Against Rheumatism (EULAR) recommendations for the management of gout, in 2006. This situation has prompted a systematic review and update of the 2006 recommendations. METHODS: The EULAR task force consisted of 15 rheumatologists, 1 radiologist, 2 general practitioners, 1 research fellow, 2 patients and 3 experts in epidemiology/methodology from 12 European countries. A systematic review of the literature concerning all aspects of gout treatments was performed. Subsequently, recommendations were formulated by use of a Delphi consensus approach. RESULTS: Three overarching principles and 11 key recommendations were generated. For the treatment of flare, colchicine, non-steroidal anti-inflammatory drugs (NSAIDs), oral or intra-articular steroids or a combination are recommended. In patients with frequent flare and contraindications to colchicine, NSAIDs and corticosteroids, an interleukin-1 blocker should be considered. In addition to education and a non-pharmacological management approach, urate-lowering therapy (ULT) should be considered from the first presentation of the disease, and serum uric acid (SUA) levels should be maintained at<6 mg/dL (360 µmol/L) and <5 mg/dL (300 µmol/L) in those with severe gout. Allopurinol is recommended as first-line ULT and its dosage should be adjusted according to renal function. If the SUA target cannot be achieved with allopurinol, then febuxostat, a uricosuric or combining a xanthine oxidase inhibitor with a uricosuric should be considered. For patients with refractory gout, pegloticase is recommended. CONCLUSIONS: These recommendations aim to inform physicians and patients about the non-pharmacological and pharmacological treatments for gout and to provide the best strategies to achieve the predefined urate target to cure the disease.

2 Guideline Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 2015

Eckardt, Kai-Uwe / Alper, Seth L / Antignac, Corinne / Bleyer, Anthony J / Chauveau, Dominique / Dahan, Karin / Deltas, Constantinos / Hosking, Andrew / Kmoch, Stanislav / Rampoldi, Luca / Wiesener, Michael / Wolf, Matthias T / Devuyst, Olivier / Anonymous4640822. ·Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. · Divisions of Nephrology and Molecular and Vascular Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA. · INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France. · Paris Descartes University, Imagine Institute, Paris, France. · Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA. · Département de Néphrologie et Transplantation d'organes, CHU Rangueil, Toulouse, France. · Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium. · Department of Biological Sciences, Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus. · UKD Foundation, New York, New York, USA. · Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic. · Molecular Genetics of Renal Disorders Unit, Division of Genetics and Cell Biology, Dulbecco Telethon Institute c/o IRCCS San Raffaele Scientific Institute, Milan, Italy. · Division of Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. · Institute of Physiology, University of Zurich, Zurich, Switzerland. ·Kidney Int · Pubmed #25738250.

ABSTRACT: Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.

3 Review Genetic disorders resulting in hyper- or hypouricemia. 2012

Sebesta, Ivan. ·Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic. isebes@lf1.cuni.cz ·Adv Chronic Kidney Dis · Pubmed #23089275.

ABSTRACT: Serum uric acid concentrations are governed by the balance of urate production and excretion. Besides well-known secondary causes of hyperuricemia, such as myeloproliferative diseases, decreased renal function, and excessive dietary purine intake, there are a number of genetic disorders that result in hyper- or hypouricemia. Renal impairment in these disorders may be associated with the development of chronic kidney disease, acute kidney injury, or urate nephrolithiasis. These conditions are frequently misdiagnosed, not because the diagnosis is complicated and difficult to ascertain, but rather because of a lack of awareness of the particular condition. The first important step in the diagnosis is obtaining a detailed family history, with evaluation of serum and urinary urate concentrations. This review will aid physicians in identifying these inherited kidney disorders associated with hyperuricemia and hypouricemia. Identification of these conditions will help to explain the pathogenesis of different types of gout, and may extend insights into the urate transport and chronic kidney disease.

4 Article Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. 2018

Zikánová, Marie / Wahezi, Dawn / Hay, Arielle / Stiburková, Blanka / Pitts, Charles / Mušálková, Dita / Škopová, Václava / Barešová, Veronika / Soucková, Olga / Hodanová, Katerina / Živná, Martina / Stránecký, Viktor / Hartmannová, Hana / Hnízda, Ales / Bleyer, Anthony J / Kmoch, Stanislav. ·Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic. · Pediatric Rheumatology, Children's Hospital at Montefiore, Bronx, NY, USA. · Pediatric Rheumatology, Nicklaus Children's Hospital, Miami, FL, USA. · Institute of Rheumatology, Prague, Czech Republic. · Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC. · Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, Prague, Czech Republic. ·Rheumatology (Oxford) · Pubmed #30423175.

ABSTRACT: Objectives: Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women, and when it does, the clinical presentation is mild. We describe a 16-year-old African American female who developed progressive tophi, nephrolithiasis and acute kidney failure due to urate overproduction. Family history included a mother with tophaceous gout who developed end-stage kidney disease due to nephrolithiasis and an affected sister with polyarticular gout. The main aim of this study was to describe the clinical manifestations of PRPS1 superactivity in women. Methods: Whole exome sequencing was performed in affected females and their fathers. Results: Mutational analysis revealed a new c.520 G > A (p.G174R) mutation in the PRPS1 gene. The mutation resulted in decreased PRPS1 inhibition by ADP. Conclusion: Clinical findings in previously reported females with PRPS1 superactivity showed a high clinical penetrance of this disorder with a mean serum urate level of 8.5 (4.1) mg/dl [506 (247) μmol/l] and a high prevalence of gout. These findings indicate that all women in families with PRPS1 superactivity should be genetically screened for a mutation (for clinical management and genetic counselling). In addition, women with tophaceous gout, gout presenting in childhood, or a strong family history of severe gout should be considered for PRPS1 mutational analysis.

5 Article Functional non-synonymous variants of ABCG2 and gout risk. 2017

Stiburkova, Blanka / Pavelcova, Katerina / Zavada, Jakub / Petru, Lenka / Simek, Pavel / Cepek, Pavel / Pavlikova, Marketa / Matsuo, Hirotaka / Merriman, Tony R / Pavelka, Karel. ·Institute of Rheumatology. · Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague. · Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic. · National Defense Medical College, Saitama, Japan. · Department of Biochemistry, University of Otago, Dunedin, New Zealand. ·Rheumatology (Oxford) · Pubmed #28968913.

ABSTRACT: Objectives: Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout. In the present study, our objective was to determine the frequency and effect on gout of common and rare non-synonymous and other functional allelic variants in the ABCG2 gene. Methods: The main cohort recruited from the Czech Republic consisted of 145 gout patients; 115 normouricaemic controls were used for comparison. We amplified, directly sequenced and analysed 15 ABCG2 exons. The associations between genetic variants and clinical phenotype were analysed using the t-test, Fisher's exact test and a logistic and linear regression approach. Data from a New Zealand Polynesian sample set and the UK Biobank were included for the p.V12M analysis. Results: In the ABCG2 gene, 18 intronic (one dysfunctional splicing) and 11 exonic variants were detected: 9 were non-synonymous (2 common, 7 rare including 1 novel), namely p.V12M, p.Q141K, p.R147W, p.T153M, p.F373C, p.T434M, p.S476P, p.D620N and p.K360del. The p.Q141K (rs2231142) variant had a significantly higher minor allele frequency (0.23) in the gout patients compared with the European-origin population (0.09) and was significantly more common among gout patients than among normouricaemic controls (odds ratio = 3.26, P < 0.0001). Patients with non-synonymous allelic variants had an earlier onset of gout (42 vs 48 years, P = 0.0143) and a greater likelihood of a familial history of gout (41% vs 27%, odds ratio = 1.96, P = 0.053). In a meta-analysis p.V12M exerted a protective effect from gout (P < 0.0001). Conclusion: Genetic variants of ABCG2, common and rare, increased the risk of gout. Non-synonymous allelic variants of ABCG2 had a significant effect on earlier onset of gout and the presence of a familial gout history. ABCG2 should thus be considered a common and significant risk factor for gout.

6 Article GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes. 2017

Nakayama, Akiyoshi / Nakaoka, Hirofumi / Yamamoto, Ken / Sakiyama, Masayuki / Shaukat, Amara / Toyoda, Yu / Okada, Yukinori / Kamatani, Yoichiro / Nakamura, Takahiro / Takada, Tappei / Inoue, Katsuhisa / Yasujima, Tomoya / Yuasa, Hiroaki / Shirahama, Yuko / Nakashima, Hiroshi / Shimizu, Seiko / Higashino, Toshihide / Kawamura, Yusuke / Ogata, Hiraku / Kawaguchi, Makoto / Ohkawa, Yasuyuki / Danjoh, Inaho / Tokumasu, Atsumi / Ooyama, Keiko / Ito, Toshimitsu / Kondo, Takaaki / Wakai, Kenji / Stiburkova, Blanka / Pavelka, Karel / Stamp, Lisa K / Dalbeth, Nicola / Anonymous181125 / Sakurai, Yutaka / Suzuki, Hiroshi / Hosoyamada, Makoto / Fujimori, Shin / Yokoo, Takashi / Hosoya, Tatsuo / Inoue, Ituro / Takahashi, Atsushi / Kubo, Michiaki / Ooyama, Hiroshi / Shimizu, Toru / Ichida, Kimiyoshi / Shinomiya, Nariyoshi / Merriman, Tony R / Matsuo, Hirotaka / Anonymous191125. ·Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan. · Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Shizuoka, Japan. · Department of Medical Chemistry, Kurume University School of Medicine, Kurume, Fukuoka, Japan. · Department of Dermatology, National Defense Medical College, Tokorozawa, Saitama, Japan. · Department of Biochemisty, University of Otago, Dunedin, New Zealand. · Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan. · Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. · Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan. · Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan. · Laboratory for Mathematics, National Defense Medical College, Tokorozawa, Saitama, Japan. · Department of Biopharmaceutics, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan. · Department of Biopharmaceutics, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Aichi, Japan. · Department of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Saitama, Japan. · Division of Transcriptomics, Research Center for Transomics Medicine, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan. · Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan. · Ryougoku East Gate Clinic, Tokyo, Japan. · Department of Internal Medicine, Self-Defense Forces Central Hospital, Tokyo, Japan. · Program in Radiological and Medical Laboratory Sciences, Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. · Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. · First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic. · Institute of Rheumatology, Prague, Czech Republic. · Department of Medicine, University of Otago, Christchurch, New Zealand. · Department of Medicine, University of Auckland, Grafton, Auckland, New Zealand. · Department of Human Physiology and Pathology, Faculty of Pharma-Sciences, Teikyo University, Tokyo, Japan. · Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan. · Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan. · Department of Pathophysiology and Therapy in Chronic Kidney Disease, Jikei University School of Medicine, Tokyo, Japan. · Omics Research Center, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan. · Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Yokohama, Kanagawa, Japan. · Midorigaoka Hospital, Takatsuki, Osaka, Japan. · Kyoto Industrial Health Association, Kyoto, Japan. · Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan. ·Ann Rheum Dis · Pubmed #27899376.

ABSTRACT: OBJECTIVE: A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. METHODS: Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. RESULTS: In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10 CONCLUSIONS: Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia.

7 Article Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout. 2016

Petru, Lenka / Pavelcova, Katerina / Sebesta, Ivan / Stiburkova, Blanka. ·Institute of Rheumatology, Prague, Czech Republic; Department of Rheumatology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic. · Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic. · Institute of Rheumatology, Prague, Czech Republic; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic. Electronic address: stiburkova@revma.cz. ·Clin Chim Acta · Pubmed #27288985.

ABSTRACT: Hyperuricemia depends on the balance of endogenous production and renal excretion of uric acid. Transporters for urate are located in the proximal tubule where uric acid is secreted and extensively reabsorbed: secretion is principally ensured by the highly variable ABCG2 gene. Enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) plays a central role in purine metabolism and its deficiency is an X-linked inherited metabolic disorder associated with clinical manifestations of purine overproduction. Here we report the case of a middle-aged man with severe chronic tophaceous gout with a poor response to allopurinol and requiring repeated surgical intervention. We identified the causal mutations in the HPRT1 gene, variant c.481G>T (p.A161S), and in the crucial urate transporter ABCG2, a heterozygous variant c.421C>A (p.Q141K). This case shows the value of an analysis of the genetic background of serum uric acid.

8 Article Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis. 2015

Kostalova, Eva / Pavelka, Karel / Vlaskova, Hana / Musalkova, Dita / Stiburkova, Blanka. ·Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic. · Institute of Rheumatology, Prague, Czech Republic. · Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic; Institute of Rheumatology, Prague, Czech Republic. Electronic address: stiburkova@revma.cz. ·Clin Chim Acta · Pubmed #25476133.

ABSTRACT: BACKGROUND: X-linked hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in an inherited disorder of purine metabolism is usually associated with the clinical manifestations of hyperuricemia. A variable spectrum of neurological involvement occurs predominantly in males. Females are usually asymptomatic. Carrier status cannot be confirmed by biochemical and enzymatic methods reliably. METHODS: We studied clinical, biochemical and molecular genetic characteristics of Czech families with hyperuricemia and HPRT deficiency. We analyzed age at diagnosis, clinical symptoms, uricemia, urinary hypoxanthine and xanthine, HPRT activity in erythrocytes, mutation in the HPRT1 gene, X-inactivation, and major urate transporters. RESULTS: A mutation in the HPRT1 gene in family A was confirmed in one boy and four females. Three females with hyperuricemia had normal excretion of purine. One female was normouricemic. An 8-month-old boy with neurological symptoms showed hyperuricemia, increased excretion of urinary hypoxanthine and xanthine and a very low HPRT activity in erythrocytes. We have found three other unrelated female carriers with hyperuricemia and normal excretion of hypoxanthine and xanthine among other families with HPRT deficiency. CONCLUSIONS: HPRT deficiency needs to be considered in females with hyperuricemia with normal excretion of purine metabolites. Familiar hyperuricemia and/or nonfamiliar gout should always be further investigated, especially in children.

9 Article Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout. 2014

Hurba, Olha / Mancikova, Andrea / Krylov, Vladimir / Pavlikova, Marketa / Pavelka, Karel / Stibůrková, Blanka. ·Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic. · Charles University in Prague, Faculty of Science, Department of Cell Biology, Prague, Czech Republic. · Institute of Rheumatology, Prague, Czech Republic. · Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic; Institute of Rheumatology, Prague, Czech Republic. ·PLoS One · Pubmed #25268603.

ABSTRACT: OBJECTIVE: Using European descent Czech populations, we performed a study of SLC2A9 and SLC22A12 genes previously identified as being associated with serum uric acid concentrations and gout. This is the first study of the impact of non-synonymous allelic variants on the function of GLUT9 except for patients suffering from renal hypouricemia type 2. METHODS: The cohort consisted of 250 individuals (150 controls, 54 nonspecific hyperuricemics and 46 primary gout and/or hyperuricemia subjects). We analyzed 13 exons of SLC2A9 (GLUT9 variant 1 and GLUT9 variant 2) and 10 exons of SLC22A12 by PCR amplification and sequenced directly. Allelic variants were prepared and their urate uptake and subcellular localization were studied by Xenopus oocytes expression system. The functional studies were analyzed using the non-parametric Wilcoxon and Kruskall-Wallis tests; the association study used the Fisher exact test and linear regression approach. RESULTS: We identified a total of 52 sequence variants (12 unpublished). Eight non-synonymous allelic variants were found only in SLC2A9: rs6820230, rs2276961, rs144196049, rs112404957, rs73225891, rs16890979, rs3733591 and rs2280205. None of these variants showed any significant difference in the expression of GLUT9 and in urate transport. In the association study, eight variants showed a possible association with hyperuricemia. However, seven of these were in introns and the one exon located variant, rs7932775, did not show a statistically significant association with serum uric acid concentration. CONCLUSION: Our results did not confirm any effect of SLC22A12 and SLC2A9 variants on serum uric acid concentration. Our complex approach using association analysis together with functional and immunohistochemical characterization of non-synonymous allelic variants did not show any influence on expression, subcellular localization and urate uptake of GLUT9.

10 Minor Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis. 2016

Stiburkova, Blanka / Miyata, Hiroshi / Závada, Jakub / Tomčík, Michal / Pavelka, Karel / Storkanova, Gabriela / Toyoda, Yu / Takada, Tappei / Suzuki, Hiroshi. ·Institute of Rheumatology, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and stiburkova@revma.cz. · Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan. · Institute of Rheumatology. · Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and. ·Rheumatology (Oxford) · Pubmed #26428519.

ABSTRACT: -- No abstract --

11 Minor Successful excision of a suspected mycotic transplant renal artery patch aneurysm with renal allograft autotransplantation. 2014

Chandak, Pankaj / Kessaris, Nicos / Uwechue, Raphael Uzo / Abboudi, Hamid / Hossain, Mohammed / Harris, Fiona / Jones, Keith / Fronek, Jiri. ·1 Department of Nephrology and Renal Transplantation Guy's & St Thomas' NHS Foundation Trust London, UK 2 Department of General Surgery Diana Princess of Wales Hospital Grimsby, UK 3 Department of Urology Royal Sussex County Hospital Brighton, UK 4 St George's Renal Transplant Unit St George's Healthcare NHS Trust London, UK 5 South West Thames Renal and Transplantation Unit Epsom and St Helier University Hospitals NHS Trust Surrey, UK 6 Vascular Institute St George's Healthcare NHS Trust London, UK 7 Transplant Surgery Department Institute for Clinical and Experimental Medicine 2nd Medical Faculty Charles University Prague, Czech Republic. ·Transplantation · Pubmed #24492430.

ABSTRACT: -- No abstract --