keyword
MENU ▼
Read by QxMD icon Read
search

Cystinuria

keyword
https://www.readbyqxmd.com/read/29059768/re-%C3%AE-lipoic-acid-treatment-prevents-cystine-urolithiasis-in-a-mouse-model-of-cystinuria
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28461819/report-of-slc3a1-rbat-gene-mutations-in-iranian-cystinuria-patients-a-direct-sequencing-study
#14
Samaneh Markazi, Majid Kheirollahi, Abbas Doosti, Mehrdad Mohammadi
BACKGROUND: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1. MATERIALS AND METHODS: In this study, exons 1, 3, and 8 of SLC3A1 gene of 25 unrelated cystinuria patients searched for genetic variations by polymerase chain reaction and sequencing. RESULTS: There were five different variations in our studied population...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28420322/epidemiology-of-paediatric-renal-stone-disease-a-22-year-single-centre-experience-in-the-uk
#15
Naomi Issler, Stephanie Dufek, Robert Kleta, Detlef Bockenhauer, Naima Smeulders, William Van't Hoff
BACKGROUND: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology. We set up a dedicated renal stone service for children combining medical and surgical expertise in 1993 and now have a large case series of children to investigate the epidemiology. METHODS: A retrospective hospital note review of children presenting with kidney stones during the last 22 years (1993-2015) was conducted...
April 18, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28411956/medical-nutrition-therapy-for-pediatric-kidney-stone-prevention-part-3-cystinuria
#16
Jennifer Carvalho-Salemi, Lorrie Moreno, Mini Michael
No abstract text is available yet for this article.
May 2017: Journal of Renal Nutrition
https://www.readbyqxmd.com/read/28389407/d-penicillamine-combined-with-inhibitors-of-hydroperoxide-metabolism-enhances-lung-and-breast-cancer-cell-responses-to-radiation-and-carboplatin-via-h2o2-mediated-oxidative-stress
#17
Sebastian J Sciegienka, Shane R Solst, Kelly C Falls, Joshua D Schoenfeld, Adrienne R Klinger, Natalie L Ross, Samuel N Rodman, Douglas R Spitz, Melissa A Fath
D-penicillamine (DPEN), a copper chelator, has been used in the treatment of Wilson's disease, cystinuria, and rheumatoid arthritis. Recent evidence suggests that DPEN in combination with biologically relevant copper (Cu) concentrations generates H2O2 in cancer cell cultures, but the effects of this on cancer cell responses to ionizing radiation and chemotherapy are unknown. Increased steady-state levels of H2O2 were detected in MB231 breast and H1299 lung cancer cells following treatment with DPEN (100µM) and copper sulfate (15µM)...
July 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28270646/a-novel-mutation-in-slc7a9-gene-in-cystinuria
#18
Saeedeh Fazaeli, Saeideh Ashouri, Majid Kheirollahi, Mehrdad Mohammadi, Mohammad Fazilati
INTRODUCTION: Cystinuria is an inherited disorder affecting luminal transport of cystine and dibasic amino acids. Because of the poor solubility of cystine in urine, stone formation in the kidney occurs frequently. Cystinuria is associated with mutations in the SLC3A1 and SLC7A9 genes. Despite the population-specific distribution of mutations in the SLC7A9 genes, there are few genetic data reported for cystinuric patients from the Middle East. MATERIALS AND METHODS: Exon 4 of the SLC7A9 gene was sequenced in 21 patients with cystinuria, using the polymerase chain reaction and sequencing methods...
March 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28248950/stones-cystinuria-supplement-supports-solubilization
#19
Clemens Thoma
No abstract text is available yet for this article.
June 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/28247719/-cystine-as-a-risk-factor-of-the-stone-formation-in-kidney-the-reference-value-range-of-urinary-excretion-the-stage-diagnosis-of-cystine-metabolism-disorder
#20
A A Gres, D M Nitkin, T M Juraha, A A Sivakow
OBJECTIVE: to define the reference value ranges of cystine, lysine and arginine urinary excretion relative to creatinine in the morning urine samples for the metabolic disorders diagnosis leading to the formation of urinary stones. MATERIALS AND METHODS: the study involved 695 healthy individuals aged 1-17 and 1564 patients with urolithiasis aged 7-45. The content of cystine in the urine samples was determined by high performance liquid chromatography. The chemical composition of urinary stones was investigated by methods of the qualitative chemical reaction and the crystals microscopy...
August 2016: Urologii︠a︡
keyword
keyword
6246
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"