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Cystinuria

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https://www.readbyqxmd.com/read/29645320/a-dynamic-chemical-network-for-cystinuria-diagnosis
#1
Maria Lafuente, Jordi Solà, Ignacio Alfonso
The study of molecular networks represents a conceptual revolution in chemistry. Building on previous knowledge and after understanding the rules of non-covalent interactions, the design of stimulus-responsive chemical systems is possible. Here we report a new strategy, based on the reorganization of a dynamic chemical network that generates new fluorescent associations in the presence of cysteine or cystine. The binding and sensing units are encoded in the components that dynamically assemble and disassemble responding to external stimuli as a successful tool to detect both cysteine and cystine in aqueous media...
April 12, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29642350/re-associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#2
Dean G Assimos
No abstract text is available yet for this article.
April 2018: Journal of Urology
https://www.readbyqxmd.com/read/29627929/first-cardiac-manifestation-of-hypotonia-cystinuria-syndrome
#3
Mustafa Kılıç, Ahmet Cevdet Ceylan, Utku Arman Örün, Esra Kılıç
Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. We report a two-year-six-month-old affected female infant and her five-month-old affected brother with a novel homozygous deletion in SLC3A1 and PREPL gene. Both of siblings had mild facial dysmorphism, hypotonia, feeding problems, failure to thrive, developmental delay. She also had dilated cardiomyopathy which differ from other reported patients...
April 7, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29571572/design-synthesis-and-evaluation-of-l-cystine-diamides-as-l-cystine-crystallization-inhibitors-for-cystinuria
#4
Yanhui Yang, Haifa Albanyan, Sumi Lee, Herve Aloysius, Jian-Jie Liang, Vladyslav Kholodovych, Amrik Sahota, Longqin Hu
To overcome the chemical and metabolic stability issues of l-cystine dimethyl ester (CDME) and l-cystine methyl ester (CME), a series of l-cystine diamides with or without Nα -methylation was designed, synthesized, and evaluated for their inhibitory activity of l-cystine crystallization. l-Cystine diamides 2a-i without Nα -methylation were found to be potent inhibitors of l-cystine crystallization while Nα -methylation of l-cystine diamides resulted in derivatives 3b-i devoid of any inhibitory activity of l-cystine crystallization...
March 10, 2018: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29515311/cystinuria-in-a-13-month-old-girl-with-absence-of-mutations-in-the-slc3a1-and-slc7a9-genes
#5
S Krishnamurthy, C Pavani, P M Kurup, S Palanisamy, A Jagadeesh, K Sekar, S Mahadevan, L Bisceglia
No abstract text is available yet for this article.
January 2018: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/29357553/re-stone-growth-patterns-and-risk-for-surgery-among-children-presenting-with-hypercalciuria-hypocitraturia-and-cystinuria-as-underlying-metabolic-causes-of-urolithiasis
#6
https://www.readbyqxmd.com/read/29297813/prevalence-of-cystinuria-in-servals-leptailurus-serval-in-the-united-states
#7
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
#8
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...
January 23, 2017: Urology Journal
https://www.readbyqxmd.com/read/29240374/case-study-case-studies-in-cystinuria
#9
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
#10
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
#11
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
#12
Manint Usawachintachit, Benjamin Sherer, Matthew Hudnall, David T Tzou, Kazumi Taguchi, Ryan S Hsi, Marshall Stoller, Thomas Chi
INTRODUCTION: 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 vs bilateral cystine stone formers. PATIENTS AND METHODS: 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...
February 2018: 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
#13
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
#14
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
#15
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...
February 2018: Journal of Urology
https://www.readbyqxmd.com/read/28882031/a-multiregional-italian-cohort-of-24-hour-urine-metabolic-evaluation-in-renal-stone-formers
#16
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...
February 2018: 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
#17
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
#18
F Zu'bi, M Sidler, E Harvey, R I Lopes, Asal 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
#19
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
#20
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
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