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https://www.readbyqxmd.com/read/29784615/autosomal-dominant-tubulointerstitial-kidney-disease-clinical-presentation-of-patients-with-adtkd-umod-and-adtkd-muc1
#1
Nadia Ayasreh, Gemma Bullich, Rosa Miquel, Mónica Furlano, Patricia Ruiz, Laura Lorente, Oliver Valero, Miguel Angel García-González, Nisrine Arhda, Intza Garin, Víctor Martínez, Vanessa Pérez-Gómez, Xavier Fulladosa, David Arroyo, Alberto Martínez-Vea, Mario Espinosa, Jose Ballarín, Elisabet Ars, Roser Torra
RATIONALE & OBJECTIVE: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by mutations in at least 4 different genes: MUC1, UMOD, HNF1B, and REN. STUDY DESIGN: Retrospective cohort study. SETTING & PARTICIPANTS: 56 families (131 affected individuals) with ADTKD referred from different Spanish hospitals. Clinical, laboratory, radiologic, and pathologic data were collected, and genetic testing for UMOD, MUC1, REN, and HNF1B was performed...
May 18, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29779840/hand-involvement-in-gout
#2
G Meyer Zu Reckendorf, A Dahmam
Damage to the hand in patients suffering from gout is rare and is often detected at an advanced stage. The main clinical manifestations are the appearance of subcutaneous tophi at the finger joints. Other clinical manifestations of osteoarticular, tendinous or neurological lesions have been described in the hand and are often difficult to diagnose. In the majority of cases, surgery and adequate medical care with a suitable anti-gout treatment will allow the patient to recover normal hand function. However, surgical treatment is rare and is only performed after several months of carefully adapted medical treatment...
May 17, 2018: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/29706351/monoallelic-mutations-to-dnajb11-cause-atypical-autosomal-dominant-polycystic-kidney-disease
#3
Emilie Cornec-Le Gall, Rory J Olson, Whitney Besse, Christina M Heyer, Vladimir G Gainullin, Jessica M Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R Senum, Jennifer Arroyo, Charles D Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes. WES identified a DNAJB11 missense variant (p...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29572036/predictors-of-treatment-failure-after-2-stage-reimplantation-for-infected-total-knee-arthroplasty-a-2-to-10-year-follow-up
#4
Chen-Yang Ma, Yu-Der Lu, Kerri L Bell, Jun-Wen Wang, Jih-Yang Ko, Ching-Jen Wang, Feng-Chih Kuo
BACKGROUND: The aim of this study is to identify risk factors which may lead to treatment failure following 2-stage reimplantation for chronic infected total knee arthroplasty (TKA). METHODS: We retrospectively reviewed 106 patients (108 knees) who underwent consecutive 2-stage revision for chronic PJI of the knee at our institution between January 2005 and December 2015. A total of 31 risk factors, including patient characteristics, comorbidities, surgical variables, and microbiology data, were collected...
February 13, 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29569962/a-novel-uromodulin-mutation-in-autosomal-dominant-tubulointerstitial-kidney-disease-a-pedigree-based-study-and-literature-review
#5
Ziqiang Lin, Juan Yang, Hong Liu, Dan Cai, Zhenmei An, Yerong Yu, Tao Chen
Autosomal dominant tubulointerstitial kidney disease caused by mutations in uromodulin gene (ADTKD-UMOD) is a spectrum of hereditary renal disorders, characterized by early-onset hyperuricemia, gout and progressive nephropathy. This study presented a novel UMOD mutation in an ADTKD pedigree and reviewed studies in Chinese population. The index patient is a 16-year-old girl with hypertension, hyperuricemia and normal serum creatinine level. Four affected and six unaffected members were available for genetic screen...
November 2018: Renal Failure
https://www.readbyqxmd.com/read/29544736/patient-derived-hormone-naive-prostate-cancer-xenograft-models-reveal-growth-factor-receptor-bound-protein-10-as-an-androgen-receptor-repressed-gene-driving-the-development-of-castration-resistant-prostate-cancer
#6
Jun Hao, Xinpei Ci, Hui Xue, Rebecca Wu, Xin Dong, Stephen Yiu Chuen Choi, Haiqing He, Yu Wang, Fang Zhang, Sifeng Qu, Fan Zhang, Anne M Haegert, Peter W Gout, Amina Zoubeidi, Colin Collins, Martin E Gleave, Dong Lin, Yuzhuo Wang
BACKGROUND: Although androgen deprivation therapy is initially effective in controlling growth of hormone-naive prostate cancers (HNPCs) in patients, currently incurable castration-resistant prostate cancer (CRPC) inevitably develops. OBJECTIVE: To identify CRPC driver genes that may provide new targets to enhance CRPC therapy. DESIGN, SETTING, AND PARTICIPANTS: Patient-derived xenografts (PDXs) of HNPCs that develop CRPC following host castration were examined for changes in expression of genes at various time points after castration using transcriptome profiling analysis; particular attention was given to pre-CRPC changes in expression indicative of genes acting as potential CRPC drivers...
June 2018: European Urology
https://www.readbyqxmd.com/read/29491659/multiple-asymptomatic-juxta-articular-nodules-mimicking-tuberous-xanthoma-a-unusual-presentation-of-tophaceous-gout
#7
Sidharth Tandon, Kabir Sardana, Purnima Malhotra, Jasmeet Singh
Asymptomatic, juxta-articular nodules are an uncommon morphology, which is usually diagnosed as xanthomas, calcinosis cutis or rheumatoid nodules. This study was represented as a case of gout, which is a disorder of purine metabolism resulting in elevation of serum uric acid and deposition of monosodium urate crystals within and around joints and manifests clinically as inflammatory arthritis. Urate crystal deposits have also been found in tendons, ligaments, viscera, and the skin, with the term "tophi" being used for the non-articular deposits...
October 2017: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/29425229/schistosoma-mansoni-smki-1-serine-protease-inhibitor-binds-to-elastase-and-impairs-neutrophil-function-and-inflammation
#8
Suellen B Morais, Barbara C Figueiredo, Natan R G Assis, Debora M Alvarenga, Mariana T Q de Magalhães, Rafaela S Ferreira, Angélica T Vieira, Gustavo B Menezes, Sergio C Oliveira
Protease inhibitors have important function during homeostasis, inflammation and tissue injury. In this study, we described the role of Schistosoma mansoni SmKI-1 serine protease inhibitor in parasite development and as a molecule capable of regulating different models of inflammatory diseases. First, we determine that recombinant (r) SmKI-1 and its Kunitz domain but not the C-terminal region possess inhibitory activity against trypsin and neutrophil elastase (NE). To better understand the molecular basis of NE inhibition by SmKI-1, molecular docking studies were also conducted...
February 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29424336/a-novel-umod-gene-mutation-associated-with-chronic-kidney-failure-at-a-young-age
#9
Nicolina Stefania Carucci, Gianluca Caridi, Francesca Lugani, Claudia Barone, Giovanni Conti
Autosomal dominant tubulointerstitial kidney disease (ADTKD) belongs to a group of renal hereditary disorders linked by common findings of tubulointerstitial disease and dominant inheritance. The renal clinical phenotype is characterized by chronic kidney disease, hyperuricemia, gout, and, inconstantly, renal cysts. Uromodulin (UMOD) gene mutations are related to the clinical phenotype of ADTKD-UMOD. We describe here a novel heterozygous mutation of UMOD (c.249C>G; p.Cys83Trp) in an affected 9-year-old boy with progressive renal impairment and hyperuricemia...
February 9, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29409218/use-of-masquelet-s-technique-for-treating-the-first-metatarsophalangeal-joint-in-cases-of-gout-combined-with-a-massive-bone-defect
#10
Feng Liu, Ruo-Kun Huang, Ming Xie, Hao Pan, Jing-Jing Zhao, Bo Lei
BACKGROUND: To examine the safety and efficacy of Masquelet's technique as a surgical method for treating the first metatarsophalangeal joint in cases of gout accompanied by a massive bone defect. METHODS: From January 2010 to January 2016, eleven patients (7 males and 4 females; mean age 33.1 years; range, 23-43 years) received surgical treatment for a first metatarsophalangeal joint tophus which caused a serious bone defect. The first metatarsophalangeal bone defects ranged from 3-6cm, or nearly 50% of the length of normal bone...
April 2018: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29393086/uric-acid-the-unknown-uremic-toxin
#11
Alejandro Treviño-Becerra
This review brings together concepts of uric acid metabolism affecting renal parenchyma and its function and the current therapies to reduce hyperuricemia (HyU) and avoid renal disease progression. High uric acid plays an important role in several chronic diseases including kidney diseases such as lithiasis, gout nephropathy, and preeclampsia. In the last 30 years, it has been shown that reducing HyU with low protein and low purine diets in addition to allopurinol creates physiopathological conditions that produce a slight increase in the glomerular filtration rate (GFR)...
2018: Contributions to Nephrology
https://www.readbyqxmd.com/read/29386212/effective-uric-acid-reduction-with-probenecid-and-febuxostat-in-a-patient-with-chronic-kidney-disease
#12
Robert Case, Brian Wentworth, Grant Jester
A 33-year-old male with poorly controlled chronic tophaceous gout and chronic kidney disease (CKD) with estimated glomerular filtration rate (GFR) of 37 cc/min. His uric acid was 11 mg/dL despite maximal dosing of febuxostat. He had previously failed pegloticase infusions as well. This patient had a reduction in his uric acid level to less than 6 mg/dL following addition of probenecid to his febuxostat regimen. Most guidelines recommend against utilisation of probenecid therapy in patients with GFR <50, but there is no obvious contraindication to its use, provided renal calculi do not develop...
January 31, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29363262/management-of-gout-and-hyperuricemia-multidisciplinary-consensus-in-taiwan
#13
REVIEW
Kuang-Hui Yu, Der-Yuan Chen, Jiunn-Horng Chen, Shih-Yang Chen, Shyh-Ming Chen, Tien-Tsai Cheng, Song-Chou Hsieh, Tsu-Yi Hsieh, Pai-Feng Hsu, Chang-Fu Kuo, Mei-Chuan Kuo, Hing-Chung Lam, I-Te Lee, Toong-Hua Liang, Hsiao-Yi Lin, Shih-Chang Lin, Wen-Pin Tsai, Gregory J Tsay, James Cheng-Chung Wei, Chung-Han Yang, Wen-Chan Tsai
Gout is an inflammatory disease manifested by the deposition of monosodium urate (MSU) crystals in joints, cartilage, synovial bursa, tendons or soft tissues. Gout is not a new disease, which was first documented nearly 5,000 years ago. The prevalence of gout has increased globally in recent years, imposing great disease burden worldwide. Moreover, gout or hyperuricemia is clearly associated with a variety of comorbidities, including cardiovascular diseases, chronic kidney disease, urolithiasis, metabolic syndrome, diabetes mellitus, thyroid dysfunction, and psoriasis...
April 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29250494/diagnosis-and-treatment-of-inflammatory-joint-disease
#14
REVIEW
Yeesuk Kim, Hyun-Cheol Oh, Jang Won Park, In-Sung Kim, Jun-Young Kim, Ki-Choul Kim, Dong-Sik Chae, Woo-Lam Jo, Joo-Hyoun Song
Arthritis damages the cartilage within joints, resulting in degenerative changes, including loss of function and joint instability. Ankylosing spondylitis (AS) is a chronic inflammatory condition affecting the spine and bone-to-tendon attachment area within the sacroiliac joint leading to back pain and progressive spinal stiffness. In the final stages, AS causes hyperkyphosis-a condition closely tied to the human leukocyte antigen-B27 gene. Rheumatoid arthritis is a chronic, systemic autoimmune disease characterized by the simultaneous inflammation of the synovium of multiple joints, leading to joint damage (e...
December 2017: Hip & Pelvis
https://www.readbyqxmd.com/read/29067099/treatment-of-gout-combined-with-kienb%C3%A3-ck-s-disease-a-case-report
#15
Hui Lu, Qiang Chen, Hang Yu, Zhenfeng Liu
Cases of Kienböck's disease combined with gout are rare; to the best of our knowledge, the current report is the third such case reported in the literature. The current report presents the case of a 49-year-old male patient with Kienböck's disease combined with gout. The patient had experienced swelling and pain of their right wrist for 1 month. Through a combination of clinical history, physical examination, laboratory results, radiological and intraoperative findings, the patient was diagnosed with stage IIIB-IV Kienböck's disease and gout...
November 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29064176/calciphylaxis-after-parathyroidectomy
#16
Sathish Karmegam, Anupkumar Shetty
A 60-year-old African American man with end stage renal disease on hemodialysis (HD) for the past 2.5 years developed severe hyperparathyroidism. Other past medical history included atrial fibrillation, type II diabetes mellitus, hypertension, gout, pericardial effusion needing pericardial window, deep vein thrombosis, mitral insufficiency, and cardiomyopathy with implantable cardioversion device placement. His parathyroid hormone (PTH) level peaked at 4,191 pg/mL despite being on cinacalcet, sevelamer, and paricalcitol...
October 2017: Hemodialysis International
https://www.readbyqxmd.com/read/29058227/circulating-levels-of-proinflammatory-mediators-as-potential-biomarkers-of-post-traumatic-knee-osteoarthritis-development
#17
Svetlana B Panina, Igor V Krolevets, Natalia P Milyutina, Alexander B Sagakyants, Igor V Kornienko, Anzhelika A Ananyan, Mikhail A Zabrodin, Andrey A Plotnikov, Valeriy V Vnukov
BACKGROUND: The identification of biomarkers of post-traumatic osteoarthritis (PTOA) progression is of clinical importance. The aims of this study were: (1) to assess the abilities of various soluble proinflammatory mediators in plasma to distinguish patients with knee PTOA from controls; (2) to determine the correlations between the mediators in plasma and those mediators in synovial fluid (SF); and (3) to explore the associations of the mediators with radiographic PTOA severity. MATERIALS AND METHODS: The concentrations of IL-1β, IL-6, IL-18, TNFα, and leptin were measured using ELISA...
December 2017: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29047359/thiazides-in-the-management-of-hypertension-in-older-adults-a-systematic-review
#18
REVIEW
Christina Sommerauer, Neha Kaushik, Adrine Woodham, Anna Renom-Guiteras, Yolanda V Martinez, David Reeves, Ilkka Kunnamo, Thekraiat Al Qur An, Steffen Hübner, Andreas Sönnichsen
BACKGROUND: Thiazides are commonly prescribed to older people for the management of hypertension. The objective of this study was to identify the evidence on the risks and benefits of their use among adults aged ≥65 years and to develop recommendations to reduce potentially inappropriate use. METHODS: Systematic review (SR) of the literature covering six databases. We applied a staged search approach, where each search was undertaken only if the previous one did not yield high quality results...
October 16, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28975090/chronic-dietary-oxalate-nephropathy-after-intensive-dietary-weight-loss-regimen
#19
Gebran Khneizer, Ahmad Al-Taee, Meher S Mallick, Bahar Bastani
BACKGROUND: Hyperoxaluria has been associated with nephrolithiasis as well as acute and chronic kidney disease. We present a case of end stage renal failure caused by excessive dietary oxalate intake in a dietary weight loss regimen. CASE PRESENTATION: A 51-year-old Caucasian male with the past medical history of type 2 diabetes mellitus, gout, hypertension and morbid obesity was referred to the primary care clinic after being found pale and easily fatigued. The patient had lost 36 kg over a 7-month period by implementing exercise and intense dietary measures that included 6 meals of spinach, kale, berries, and nuts...
July 2017: Journal of Nephropathology
https://www.readbyqxmd.com/read/28942667/depression-and-anxiety-correlate-with-disease-related-characteristics-and-quality-of-life-in-chinese-patients-with-gout-a-case-control-study
#20
Ting Fu, Haixia Cao, Rulan Yin, Lijuan Zhang, Qiuxiang Zhang, Liren Li, Xingmei Feng, Zhifeng Gu
This study aims to evaluate the prevalence of depression and anxiety and investigate the potential risk factors for depression and anxiety in Chinese gout patients. A self-report survey was administered to 226 gout patients and 232 age- and gender-matched healthy individuals. Patients were asked to complete a set of standardized self-report questionnaires. Univariate and mutiple regression were used to analyze the data. We found 15.0% of gout patients had depression, and 5.3% had anxiety. After adjusted demographic variables, the prevalence of depression was significantly higher than the healthy controls (6...
April 2018: Psychology, Health & Medicine
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