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Cystinuria

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https://www.readbyqxmd.com/read/29297813/prevalence-of-cystinuria-in-servals-leptailurus-serval-in-the-united-states
#1
Sarah A Cannizzo, Mindy Stinner, Suzanne Kennedy-Stoskopf
Cystinuria is a condition caused by defects in amino acid transport within the kidneys and small intestines. It has been reported in humans, dogs, domestic cats, ferrets, nondomestic canids, and nondomestic felids, including servals ( Leptailurus serval). Genetic mutations have been identified in dogs, humans, and domestic cats. Cystinuria usually follows an autosomal recessive inheritance, although it can be autosomal dominant and sex linked. The primary objective of this study was to screen urine samples dried on filter paper from captive servals in the United States for cystinuria by using the cyanide-nitroprusside screening test...
December 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/29277886/the-respiratory-induced-kidney-motion-does-it-really-effect-the-shock-wave-lithotripsy
#2
Mehmet Ozgur Yucel, Serkan Ozcan, Gokhan Tirpan, Murat Bagcioglu, Arif Aydin, Arif Demirbas, Tolga Karakan
PURPOSE: To investigate the effect of respiratory induced kidney mobility on success of shock wave lithotripsy (SWL) with an electrohydraulic lithotripter. MATERIALS AND METHODS: Between May 2013 and April 2015, 158 patients underwent SWL treatment for kidney stones with an electrohydraulic lithotripter. The exclusion criteria were presence of a known metabolic disease (such as cystinuria), non-opaque stones, need for focusing with ultrasonography, abnormal habitus, urinary tract abnormalities, and inability to tolerate SWL until the end of the procedure...
December 25, 2017: Urology Journal
https://www.readbyqxmd.com/read/29240374/case-study-case-studies-in-cystinuria
#3
David S Goldfarb, Michael Grasso
The diagnosis and treatment of patients with rare inherited metabolic disorders associated with recurrent and often obstructive kidney stones are important to the prevention of chronic kidney disease or end stage renal disease. Two case studies in this article describe the diagnosis and management of cystinuria, the most common rare kidney stone disorder.
March 2017: Urologic Nursing
https://www.readbyqxmd.com/read/29240373/early-recognition-and-management-of-rare-kidney-stone-disorders
#4
Boss Goldstein, David S Goldfarb
Kidney stones, especially those that present in childhood/adolescence, may be due to rare inherited disorders such as cystinuria. Early recognition and prompt treatment can help reduce or even prevent the serious long-term complications of these rare stone disorders.
March 2017: Urologic Nursing
https://www.readbyqxmd.com/read/29223310/cystinuria-one-possible-reason-for-kidney-and-salivary-gland-lithiasis-relationship
#5
Marc-Kevin Le Roux, Nicolas Graillon, Jean-Marc Foletti, Cyrille Chossegros
Salivary gland lithiasis affects 1 to 2% of adults. The submandibular glands are concerned in 87% of cases. An association between kidney and salivary lithiases, although often mentioned, has rarely been observed. We relate an exceptional case of parotid and submandibular cystine sialolithiasis with kidney cystine lithiasis in a patient with cystinuria. Cystine lithiasis occurs in 1% of kidney lithiasis cases. The purpose of this article is to discuss the arguments, diagnosis, and therapeutic attitude in front of salivary cystine lithiasis...
November 22, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29179563/clinical-outcomes-for-cystinuria-patients-with-unilateral-versus-bilateral-cystine-stone-disease
#6
Manint Usawachintachit, Benjamin Sherer, Matthew Hudnall, David T Tzou, Kazumi Taguchi, Ryan S Hsi, Marshall Stoller, Thomas Chi
<b>Introduction</b>: Cystinuria is a genetic disorder marked by elevated urinary cystine excretion and recurrent cystine nephrolithiasis. Interestingly, despite seemingly similar contralateral renal anatomy, a subset of cystinuric patients consistently form stones in only one kidney. The aim of this study is to evaluate clinical outcomes in unilateral versus bilateral cystine stone formers. <b>Methods</b>: We performed a retrospective case-control study of cystinuric patients evaluated and treated at the University of California, San Francisco between 1994 and 2015 and categorized patients as either unilateral or bilateral stone formers...
November 27, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#7
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29059768/re-%C3%AE-lipoic-acid-treatment-prevents-cystine-urolithiasis-in-a-mouse-model-of-cystinuria
#8
Dean G Assimos
No abstract text is available yet for this article.
November 2017: Journal of Urology
https://www.readbyqxmd.com/read/28916274/do-urinary-cystine-parameters-predict-clinical-stone-activity
#9
Justin I Friedlander, Jodi A Antonelli, Noah E Canvasser, Monica S C Morgan, Daniel Mollengarden, Sara Best, Margaret S Pearle
PURPOSE: An accurate urinary predictor of stone recurrence would be clinically advantageous for patients with cystinuria. A proprietary assay (Litholink, Chicago, Illinois) measures cystine capacity as a potentially more reliable estimate of stone forming propensity. The recommended capacity level to prevent stone formation, which is greater than 150 mg/l, has not been directly correlated with clinical stone activity. We investigated the relationship between urinary cystine parameters and clinical stone activity...
September 12, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28882031/a-multiregional-italian-cohort-of-24-hour-urine-metabolic-evaluation-in-renal-stone-formers
#10
Francesco Esperto, Martino Marangella, Alberto Trinchieri, Michele Petrarulo, Roberto Miano
BACKGROUND: Nephrolithiasis is a common condition with several studies documenting an increased prevalence over the past four decades. EAU and AUA guidelines recommend 24-hour urine metabolic evaluation in high-risk stone formers. Aim of this study is to retrospectively evaluate the first three years of experience with Lithotest® (Biohealth Italia Srl, Turin, Italy) through the analysis of demographic, clinical and biochemical data collected from a large cohort of patients with kidney stones...
September 7, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/28868331/mass-spectrometry-based-in-vitro-assay-to-identify-drugs-that-influence-cystine-solubility
#11
Neelanjan Bose, Tiffany Zee, Pankaj Kapahi, Marshall L Stoller
Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the dimer of the amino acid cysteine (Sumorok and Goldfarb, 2013). Using a mouse model of cystinuria, we have recently shown that administration of drugs that increase cystine solubility in the urine can be a novel therapeutic strategy for the clinical management of the disease (Zee et al., 2017). There is a large unmet need in the field for developing new drugs for cystinuria. To that end, here we describe a simple in vitro cystine solubility assay that is amenable for screening compounds to identify potential drugs that may influence cystine solubility...
July 20, 2017: Bio-protocol
https://www.readbyqxmd.com/read/28865885/stone-growth-patterns-and-risk-for-surgery-among-children-presenting-with-hypercalciuria-hypocitraturia-and-cystinuria-as-underlying-metabolic-causes-of-urolithiasis
#12
F Zu'bi, M Sidler, E Harvey, R I Lopes, A Hojjat, N Naoum, M Pokarowski, A J Lorenzo, W A Farhat, F Papanikolaou, J Dos Santos
INTRODUCTION: Hypercalciuria, hypocitraturia and cystinuria are the most common underlying metabolic stone abnormalities in children. The present study compared stone growth patterns, stone burden, and the risk of stone-related surgery among these underlying metabolic conditions. METHODS: A retrospective cohort of 356 children with renal stones, followed from 2000 to 2015, was studied. Differences among metabolic groups were determined using Kruskal-Wallis test; the Scheffé-test was used for multiple comparisons to determine differences among single groups...
August 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28830863/effectiveness-of-treatment-modalities-on-kidney-stone-recurrence
#13
Anna L Zisman
Nephrolithiasis is highly prevalent across all demographic groups in the Western world and beyond, and its incidence rates are rising. In addition to the morbidity of the acute event, stone disease often becomes a lifelong problem that requires preventative therapy to diminish ongoing morbidity. Across the majority of stone types, increased fluid intake and targeted dietary modifications are mainstays of therapy. Specific dietary interventions associated with reduced calcium stone risk include adequate dietary calcium intake and restriction of sodium, protein, and oxalate intake, among others...
October 6, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28812535/associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#14
Henry J Martell, Kathie A Wong, Juan F Martin, Ziyan Kassam, Kay Thomas, Mark N Wass
BACKGROUND: Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the disease disrupt amino acid transport across the cell membrane, leading to the build-up of relatively insoluble cystine, resulting in formation of stones. Assessing the effects of each mutation is critical in order to provide tailored treatment options for patients...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28811699/cystinuria-crystals-that-make-a-baby-cry
#15
Dhiraj J Trivedi, Vijayetha P Patil, Pramod S Kamble
Cystinuria is a common aminoaciduria due to a COAL transporter defect in renal tubular epithelium. Increased level of cystine in urine with occasional cystine crystal can be diagnostic. With reference to clinical examinations, symptoms and laboratory reports we present a case of primary cystinuria. Prevention of complication in cystinuric relies on detection at early stage and targeting treatment towards maintaining low level of urinary cystine level.
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#16
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28717662/clinical-and-molecular-characterization-of-cystinuria-in-a-french-cohort-relevance-of-assessing-large-scale-rearrangements-and-splicing-variants
#17
Pascaline Gaildrat, Said Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, Guillaume Bollee, Hélène Tubeuf, Thomas Charles, Aurelia Bertholet-Thomas, Alice Goldenberg, Frederic Barbey, Alexandra Martins, Pascale Saugier-Veber, Thierry Frébourg, Bertrand Knebelmann, Soumeya Bekri
BACKGROUND: Cystinuria is an autosomal recessive disorder of dibasic amino acid transport in the kidney and the intestine leading to increased urinary cystine excretion and nephrolithiasis. Two genes, SLC3A1 and SLC7A9, coding respectively for rBAT and b0,+AT, account for the genetic basis of cystinuria. METHODS: This study reports the clinical and molecular characterization of a French cohort including 112 cystinuria patients and 25 relatives from 99 families. Molecular screening was performed using sequencing and Quantitative Multiplex PCR of Short Fluorescent Fragments analyses...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28689648/clinical-and-genetic-characterization-of-chinese-pediatric-cystine-stone-patients
#18
Luming Shen, Xiaoming Cong, Xin Zhang, Ninghong Wang, Ping Zhou, Yan Xu, Qingyi Zhu, Xiaojian Gu
INTRODUCTION: Cystine stone is the only clinical manifestation in patients with cystinuria, which is an autosomal recessive inheritable disease. However, clinical and genetic data vary among patients in different countries. OBJECTIVE: To investigate the characteristics of Chinese pediatric cystine stone patients. PATIENTS AND METHODS: Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated...
June 24, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28646536/spectrum-of-mutations-in-cystinuria-patients-presenting-with-prenatal-hyperechoic-colon
#19
I Tostivint, N Royer, M Nicolas, A Bourillon, I Czerkiewicz, P-H Becker, F Muller, J-F Benoist
Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in 2 genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon (HEC) has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a HEC (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed...
June 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28585658/-cystinuria-caused-by-a-slc7a9-missense-mutation-in-siamese-crossbred-littermates-in-germany
#20
Stephanie Hilton, Keijiro Mizukami, Urs Giger
Cystinuria is caused by defective proximal renal tubular reabsorption of the amino acids cystine, ornithine, lysine, and arginine (COLA). The low solubility of cystine in mildly acidic urine may lead to the formation of urinary cystine crystals and uroliths. Much progress has been made recently in the diagnosis and understanding of cystinuria in companion animals. In cats, cystinuria affects equally both genders independent of neutering status and, despite being rare, already more cystinuria-causing mutations have been detected in cats compared to dogs...
August 11, 2017: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
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