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Margret Thorsteinsdottir, Unnur A Thorsteinsdottir, Finnur F Eiriksson, Hrafnhildur L Runolfsdottir, Inger M Sch Agustsdottir, Steinunn Oddsdottir, Baldur B Sigurdsson, Hordur K Hardarson, Nilesh R Kamble, Snorri Th Sigurdsson, Vidar O Edvardsson, Runolfur Palsson
Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates the renal manifestations. Assessment of DHA crystalluria by urine microscopy is used for therapeutic monitoring, but lacks sensitivity. We report a high-throughput assay based on ultra-performance liquid chromatography coupled to tandem mass spectrometry (UPLC-MS/MS) for quantification of urinary DHA...
September 14, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
David I Chu, Gregory E Tasian, Lawrence Copelovitch
Pediatric stone disease is increasing in incidence and healthcare costs. With more years at-risk for stone recurrence during their lifetimes, children with nephrolithiasis constitute a high-risk patient population that requires focused intervention through both medical and surgical means. Through high-quality future studies to compare methods of stone prevention and treatment, the burden of stone disease on the youngest members of society may be ameliorated.
June 2016: Current Treatment Options in Pediatrics
Matthew C Ferroni, Kevin J Rycyna, Timothy D Averch, Michelle J Semins
PURPOSE: Vitamin D deficiency is often detected during metabolic evaluation in the nephrolithiasis population. Multiple vitamin D repletion protocols exist, however their differing impact on urinary stone formation risk factors is unclear. MATERIALS AND METHODS: Patients with a history of calcium stones and vitamin D deficiency (<30ng/ml) were randomized to receive either 1,000 International Units (IU) daily or 50,000 IU weekly of vitamin D supplementation for 6 weeks...
October 17, 2016: Journal of Urology
Helena Chang, David T Tzou, Manint Usawachintachit, Brian D Duty, Ryan S Hsi, Jonathan D Harper, Mathew D Sorensen, Marshall Stoller, Roger L Sur, Thomas Chi
<b>Objectives</b>: Registry-based clinical research in nephrolithiasis is critical to advancing quality in urinary stone disease management and ultimately reducing stone recurrence. A need exists to develop HIPAA-compliant registries comprised of integrated electronic health record (EHR) data using prospectively defined variables. An EHR-based standardized patient database - The Registry for Stones of the Kidney & Ureter (ReSKU™) was developed and herein we describe our implementation outcomes...
October 19, 2016: Journal of Endourology
Dean G Assimos
No abstract text is available yet for this article.
November 2016: Journal of Urology
Alicja E Grzegorzewska, Mateusz Paciorkowski, Adrianna Mostowska, Bartosz Frycz, Wojciech Warchoł, Ireneusz Stolarek, Marek Figlerowicz, Paweł P Jagodziński
Nephrolithiasis, secondary hyperparathyroidism (sHPT), and cardiovascular complications are associated with disturbances in Ca handling and contribute to morbidity/mortality during haemodialysis (HD). Calcimimetics, activators of the calcium-sensing receptor (CaSR), provide an effective means of reducing parathyroid hormone (PTH) secretion in sHPT. Polymorphism in CaSR gene (CASR) influences Ca-related parameters, however it was not shown in HD patients for CASR rs7652589. The minor allele at this polymorphism modifies the binding sites of transcription factors and CaSR expression...
October 14, 2016: Scientific Reports
Philip T Zhao, David M Hoenig, Arthur Smith, Zeph Okeke
OBJECTIVE: We compared postoperative outcomes and quality of life (QoL) between patients who received a nephrostomy versus a ureteral stent following PCNL in a prospective double-blind randomized fashion. METHOD: Between September 2015 and March 2016, we randomized 30 patients undergoing PCNL to receive nephrostomy drainage (Group 1) or Double-J ureteral stent (Group 2) at conclusion of surgery. Nephrostomy tubes were removed within 48 hours and ureteral stents were removed at least 2 weeks after surgery...
October 12, 2016: Journal of Endourology
Karolína Drbalová, Kateřina Herdová, Petr Krejčí, Monika Nývltová, Svatopluk Solař, Lenka Vedralová, Pavel Záruba, David Netuka, Petr Bavor
Multiple Endocrine Neoplasia (MEN) is a condition in which several endocrine organs of an individual are affected by adenoma, hyperplasia and less often carcinoma, either simultaneously or at different stages of life. Two existing syndromes, MEN1 and MEN2 (2A, 2B), in literature is also mentioned MEN4, are associated also with other non-endocrine disorders. MEN1 (Wermer syndrome) affects the pituitary, parathyroid, and pancreatic area. 95 % of patients show very early manifestation of hyperparathyroidism, often before 40 years of age...
2016: Vnitr̆ní Lékar̆ství
Cigdem Donmez, Ece Konac, Batuhan T Aydogan, Cenk Y Bilen
PURPOSE: To study whether -160 C > A (rs16260) and -347 G > GA (rs5030625) single nucleotide polymorphisms of the regulatory region (rSNPs) of CDH1 gene modulate the risk of nephrolithiasis. METHODS: Genomic DNA of 101 patients with calcium oxalate nephrolithiasis and 114 healthy controls were screened for both polymorphisms, using polymerase chain reaction-restriction fragments length polymorphism method (PCR-RLFP). Haplotype frequencies were also analyzed...
2016: SpringerPlus
David T Tzou, Manint Usawachintachit, Kazumi Taguchi, Thomas Chi
Ultrasound has become a mainstay tool in urologists' armamentarium for the diagnosis and management of nephrolithiasis. From starting as a rudimentary form of imaging, it has come to play a more prominent role over time, paralleling evolution in ultrasound technology. Throughout the medical community there is a growing emphasis on reducing the amount of ionizing radiation delivered to patients during routine imaging. As such there has been a resurgence of interest in ultrasound given its lack of associated radiation exposure and proven effectiveness as a diagnostic and therapeutic imaging modality...
October 12, 2016: Journal of Endourology
Yen-Man Lu, Tsu-Ming Chien, Yii-Her Chou, Wen-Jeng Wu, Chun-Nung Huang
INTRODUCTION: Shock wave lithotripsy (SWL) is widely used. However, several studies have reported increased blood pressure immediately after SWL. Until now, the association between SWL and new-onset hypertension has been a topic of discussion. This study is aimed at determining whether SWL leads to new-onset hypertension. METHODS: Data were sourced from the Longitudinal Health Insurance Database 2000 of Taiwan, Republic of China, which was compiled from 1996 to 2010 using National Health Insurance data...
October 13, 2016: Urologia Internationalis
Raiz Ahmad Misgar, Parvez Mohiuddin Dar, Shariq Rashid Masoodi, Munir Ahmad, Khursheed Alam Wani, Arshad Iqbal Wani, Mir Iftikhar Bashir
BACKGROUND: Although primary hyperparathyroidism (PHPT) has become an asymptomatic disease in the West, in India, PHPT is still an uncommonly diagnosed, overtly symptomatic disease with skeletal, muscular, and renal manifestations. AIMS: To describe the profile and surgical outcome of 78 consecutive PHPT patients over a period of two decades at a single center. MATERIALS AND METHODS: All patients who underwent evaluation and surgery for PHPT from January 1996 to December 2015 were included...
September 2016: Indian Journal of Endocrinology and Metabolism
Katherine V Oliver, Annalisa Vilasi, Amandine Maréchal, Shabbir H Moochhala, Robert J Unwin, Peter R Rich
Cystinuria is the commonest inherited cause of nephrolithiasis (~1% in adults; ~6% in children) and is the result of impaired cystine reabsorption in the renal proximal tubule. Cystine is poorly soluble in urine with a solubility of ~1 mM and can readily form microcrystals that lead to cystine stone formation, especially at low urine pH. Diagnosis of cystinuria is made typically by ion-exchange chromatography (IEC) detection and quantitation, which is slow, laboursome and costly. More rapid and frequent monitoring of urinary cystine concentration would significantly improve the diagnosis and clinical management of cystinuria...
October 10, 2016: Scientific Reports
Tarik Emre Sener, Goksel Sener, Ozge Cevik, Pinar Eker, Sule Cetinel, Olivier Traxer, Yiloren Tanidir, Cem Akbal
OBJECTIVE: To evaluate the protective effects of melatonin (Mel) on an ethylene glycol-induced nephrolithiasis model in rats. METHODS: Thirty-two Wistar albino rats were divided into 4 groups; control, ethylene glycol (EG), melatonin prevention (Mel+EG+Mel), melatonin treatment (EG+Mel) groups. 0.75% EG was added to drinking water to create nephrolithiasis model. EG group received EG and Mel+EG+Mel group received both EG and melatonin for 8 weeks. In EG+Mel group, EG is given for 8 weeks and melatonin is given for the last 4 weeks of the experiment...
October 4, 2016: Urology
Elisa Cicerello, Mario Mangano, Gian Davide Cova, Franco Merlo, Luigi Maccatrozzo
Fifty-four patients with infected renal lithiasis underwent complete metabolic evaluation searching for underlying factors contributing to stone formation including urine analysis and culture. Metabolic abnormalities were significantly more present in patients with mixed infected stones (struvite+/-apatite and calcium oxalate) than in patients with pure infected stones (struvite+/-carbonate apatite): hypercalciuria in 40%, hyperoxaluria in 34% and hyperuricosuria in 28% (p < 0.05). Urinary excretion of citrate was low in both groups without statistically significant difference (238+/-117 mg/24 h vs 214+/-104 mg/24/h, t = 0...
October 5, 2016: Archivio Italiano di Urologia, Andrologia
Hazem Elmansy, Jafar Hussaen, Mostafa Elhilali, Sero Andonian
Patients with pelvic kidneys are at an increased risk of developing ureteropelvic junction obstruction (UPJO) and nephrolithiasis with limited endourologic options. A 54-year-old man with a left pelvic kidney, recurrent nephrolithiasis, and 12 previous ureteroscopies presented with left UPJO and lower pole calyceal stones. After two failed ureteroscopic attempts, an open pyelolithotomy and pyelocystostomy were performed. After 30 months, he continues to be asymptomatic without recurrence of nephrolithiasis...
October 2016: Canadian Journal of Urology
Gemma Marcucci, Giuseppe Della Pepa, Maria Luisa Brandi
INTRODUCTION: Hypoparathyroidism is a rare endocrine disorder characterized by hypocalcaemia and hyperphosphatemia, due to absent or inappropriately low parathyroid hormone levels. For management of chronic hypoparathyroidism, current treatment options involve oral calcium and vitamin D. This standard treatment cannot resolve all problematic aspects of the disease, such as abnormal bone remodeling and reduced quality of life, and is associated with long-term complications, including nephrolithiasis, nephrocalcinosis, renal impairment, cataracts and cerebral calcifications...
November 2016: Expert Opinion on Biological Therapy
Mitra Naseri
Crossed renal ectopia is a rare urinary system anomaly which mostly is asymptomatic and is diagnosed incidentally. Urinary obstruction, infection, and neoplasia of the urinary system and nephrolithiasis are main complications of this anomaly. A 6-year-old boy admitted to the hospital with colicky abdominal pain and nausea. Abdominal examination revealed tenderness in right lower quadrant. Urine analysis and culture were normal. Kidney ultrasonography showed right kidney in pelvis cavity with no kidney tissue in left side...
2016: Journal of Renal Injury Prevention
R Brent Thomson, Claire L Thomson, Peter S Aronson
The brush border Cl-oxalate exchanger SLC26A6 plays an essential role in mediating intestinal secretion of oxalate, and is crucial for the maintenance of oxalate homeostasis and the prevention of hyperoxaluria and calcium oxalate nephrolithiasis. Previous in vitro studies have suggested that SLC26A6 is heavily N-glycosylated. N-linked glycosylation is known to critically affect folding, trafficking and function in a wide variety of integral membrane proteins and could therefore potentially have a critical impact on SLC26A6 function and subsequent oxalate homeostasis...
September 28, 2016: American Journal of Physiology. Cell Physiology
Aziz İnan Çelik, Ali Deniz, Mustafa Tangalay, Muhammet Buğra Karaaslan, Emine Bağır Kılıç
Eosinophilic myocarditis (EM) is a rare form of myocarditis that usually presents with heart failure due to eosinophilic infiltration. EM is often a component of hypereosinophilic syndrome (HES). HES is a rare disorder characterized by persistent, marked eosinophilia combined with organ system dysfunction. A 38-year-old man was admitted to emergency services with left inguinal pain and fever, and was hospitalized with diagnosis of nephrolithiasis and urinary tract infection. Intravenous antibiotic therapy of 3 grams meropenem per day and analgesic of 50 mg pethidine per day were administered...
September 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
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