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https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#1
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29021458/progressive-pseudolithiasis-associated-with-the-intravenous-administration-of-ceftriaxone-in-patients-with-central-nervous-system-infections
#2
Setsuki Tsukagoshi, Kunihiko Ishizawa, Kimitoshi Hirayanagi, Shun Nagamine, Kouki Makioka, Yukio Fujita, Yoshio Ikeda
We report four adult cases of ceftriaxone (CTRX)-induced pseudolithiasis and nephrolithiasis. With the exception of case 1, none of our cases showed abdominal symptoms. Our patients, who had central nervous system (CNS) infections, had been treated with CTRX (4 g/day) for 35-69 days. CTRX-induced pseudolithiasis and nephrolithiasis can appear depending on the total dose of CTRX and the duration for which it is administered. Patients with bacterial CNS infections who are treated with CTRX are typically treated with higher doses for longer periods...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28994037/pathophysiology-diagnosis-and-treatment-of-inherited-distal-renal-tubular-acidosis
#3
REVIEW
Nilufar Mohebbi, Carsten A Wagner
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidification and acid excretion in the collecting duct system. Consequently, patients develop hyperchloremic metabolic acidosis with an inappropriately alkaline urine. Inherited forms of dRTA are due to mutations in at least three distinct genes: SLC4A1, ATP6V1B1, ATP6V0A4. Mutations in SLC4A1-(AE1) are inherited either in an autosomal dominant manner or in a recessive one. ATP6V1B and ATP6V0A4 mutations affect two different subunits of the vacuolar H(+)-ATPase proton-pump, the B1 and a4 subunits, and are inherited in an autosomal recessive manner...
October 9, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28990817/annals-express-a-combined-liquid-chromatography-tandem-mass-spectrometry-assay-for-the-quantification-of-urinary-oxalate-and-citrate-for-diagnosis-and-management-of-nephrolithiasis
#4
David John Marshall, Joanne Elaine Adaway, Brian G Keevil
Background 24 hour urine citrate and oxalate analysis is important in the screening and monitoring of patients with nephrolithiasis. To streamline the analytical process it was decided to combine oxalate and citrate and analyse them simultaneously in the same assay. Objective A highly sensitive and specific assay for analysis of urine citrate and oxalate was developed using liquid chromatography-tandem mass spectrometry (LC-MS/MS) with a simple weak anion exchange solid phase extraction (WAX SPE) clean up procedure...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28989174/new-treatment-paradigms-for-adpkd-moving-towards-precision-medicine
#5
REVIEW
Matthew B Lanktree, Arlene B Chapman
The natural history of autosomal dominant polycystic kidney disease (ADPKD) is characterized by a variable rate of cyst development and increase in total kidney volume (TKV), variable kidney function decline and age of onset of end-stage renal disease (ESRD), and variable presentation of renal and extrarenal manifestations. Precision medicine is proposed to improve patient outcomes by tailoring therapy to the specific genetic background, pathophysiology, disease burden, prognosis and status of each individual...
October 9, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28988020/management-of-mediastinal-parathyroid-adenoma-via-minimally-invasive-thoracoscopic-surgery-case-report
#6
Saulat Hasnain Fatimi, Hina Inam, Farida Karim Chagan, Usama Khalid Choudry
INTRODUCTION: The most common cause of chronic hypercalcemia is primary hyperparathyroidism (PHPT). However, owing to the diverse presentation of hypercalcemia, the diagnosis often goes unnoticed culminating as a continuum of recurrence of symptoms. Nephrolithiasis, decreased bone mineral density and peptic ulcer disease are the main clinical sequelae. Among the causes of PHPT 80% are caused by parathyroid adenomas (PA). However, only rarely, these adenomas are found ectopically. PRESENTATION OF CASE: We present the case of a 66-year-old female with a history of recurrent renal stones and peptic ulcer disease...
September 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28981230/-diagnosis-and-treatment-of-nephrolithiasis-and-prevention-of-recurrences
#7
I Simon, F Legrand, J M Des Grottes, F Cotton, J Nortier, T Roumeguère
despite fluctuations, the prevalence of nephrolithiasis has significantly increased during the last decades in industrialized nations worldwide (1 to 15 %), which has a significant impact on the cost of healthcare. This increased prevalence is mainly explained by diet modifications. Environmental, metabolic and genetic factors may also influence the formation of kidney stones. As a consequence, the medical management of this disease is preferentially multidisciplinary and involves urologists, nephrologists, radiologists, biologists and dietitians...
2017: Revue Médicale de Bruxelles
https://www.readbyqxmd.com/read/28975110/nephrolithiasis-as-a-common-urinary-system-manifestation-of-inflammatory-bowel-diseases-a-clinical-review-and-meta-analysis
#8
REVIEW
Mahboube Ganji-Arjenaki, Hamid Nasri, Mahmoud Rafieian-Kopaei
CONTEXT: The extra-intestinal manifestations of inflammatory bowel disease (IBD) are common and involve other organs or systems for example; urinary system. EVIDENCE ACQUISITIONS: For this review, we used a variety of sources by searching through Web of Science, PubMed, EMBASE, Scopus and directory of open access journals (DOAJ). RESULTS: Urinary complications may occur in up to 22% of patients and nephrolithiasis or renal/kidney stones have been suggested to be a common manifestation of disease in forms of uric acid, calcium phosphate or calcium oxalate...
July 2017: Journal of Nephropathology
https://www.readbyqxmd.com/read/28975090/chronic-dietary-oxalate-nephropathy-after-intensive-dietary-weight-loss-regimen
#9
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/28969219/giving-birth-after-fertility-sparing-treatment-for-a-yolk-sac-tumour-case-report
#10
Georgios-Marios Makris, Alexandros Fotiou, Georgios Chrelias, Marco-Johannes Battista, Charalampos Chrelias
Yolk Sac Tumours (YSTs) of the ovary, also called Endodermal Sinus Tumours (ESTs), are the second most common Malignant Ovarian Germ Cell Tumours (MOGCTs), after dysgerminomas. YSTs occur primarily in children and young women. We present a case report of a 20-year-old woman who had been diagnosed with YST (tumour diameter of 29 cm). The patient underwent fertility sparing surgery and was subsequently treated with adjuvant chemotherapy (four cycles of bleomycin, etoposide and cisplatin). Two years after the diagnosis of YST, she successfully gave birth to a healthy girl (birth weight 3,500 g, Apgar score of 9-10 and a spontaneous vaginal delivery)...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28968428/evaluation-of-hemostasis-parameters-and-the-role-of-the-oxidative-damage-to-plasma-proteins-in-the-modulation-of-hemostasis-in-patients-with-nephrolithiasis-before-and-after-extracorporeal-shock-wave-lithotripsy
#11
Paweł Woźniak, Bogdan Kontek, Waldemar Różański, Beata Olas
PURPOSE: Extracorporeal shock wave lithotripsy (ESWL) is a commonly-used method in urology, which may modulate hemostasis and may induce lipid peroxidation in patients with nephrolithiasis. However, previous studies only examine changes occurring in patients 30-240 min after ESWL. The main aim of the present study was to determine whether oxidative stress may modulate the hemostatic activity of plasma in patients with nephrolithiasis before ESWL and the day after treatment ESWL. This will be performed by measuring selected parameters of hemostasis in these patients, both before ESWL and the following day, and assessing the level of oxidative damage to plasma proteins in these patients by measuring two biomarkers...
2017: PloS One
https://www.readbyqxmd.com/read/28966756/preventive-kidney-stones-continue-medical-education
#12
REVIEW
Farahnak Assadi, Mastaneh Moghtaderi
Nephrolithiasis is a common health problem across the globe with a prevalence of 15%-20%. Idiopathic hypercalciuria is the most common cause of nephrolithiasis, and calcium oxalate stones are the most common type of stones in idiopathic hypercalciuric patients. Calcium phosphate stones are frequently associated with other diseases such as renal tubular acidosis type 1, urinary tract infections, and hyperparathyroidism. Compared with flat abdominal film and renal sonography, a noncontrast helical computed tomography scan of the abdomen is the diagnostic procedure of choice for detection of small and radiolucent kidney stones with sensitivity and specificity of nearly 100%...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28952689/-experience-of-using-phytolysin-in-combination-therapy-of-chronic-cystitis-in-patients-with-urate-nephrolythisis
#13
L G Spivak, D V Enikeev, D V Platonova
AIM: To evaluate the effectiveness of the herbal preparation Phytolysin in the comprehensive management of urate nephrolithiasis against the background of chronic cystitis exacerbation. MATERIALS AND METHODS: The study comprised 21 patients aged 19 to 57; 11 of them (the study group) received ciprofloxacin 500 mg once daily for 7 days, Phytolysin (for 1 month) and Blemaren (for 3 months), while 10 patients of control group were treated with antibacterial therapy and Blemaren...
September 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28952685/-laparoscopic-pyelolithotomy-and-its-role-in-modern-surgery-of-nephrolithiasis
#14
P V Glybochko, Yu G Alyaev, L M Rapoport, M E Enikeev, D G Tsarichenko, E V Shpot, D O Korolev, A A Vorobyev, D V Enikeev
AIM: To determine the place of laparoscopic pyelolithotomy in surgical management of nephrolithiasis. MATERIALS AND METHODS: We analyzed 16 laparoscopic pyelolithotomies performed in our clinic over the last few years for large and stag-horn stones of anomalous kidneys (n=8), the "giant" (>30-40 cc) monolithic stones of the large extrarenal pelvis (n=3), multiple stones of PCS with the stone burden of more or equal 40 cm (n=2) and large recurrent (after PCNL) kidney stones in patients at risk of bacteriotoxic complications of percutaneous nephroscopy (n=3)...
September 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28941916/national-imaging-trends-after-ureteroscopic-or-shockwave-lithotripsy-for-nephrolithiasis
#15
Justin S Ahn, Sarah Holt, Philip May, Jonathan D Harper
PURPOSE: The study of diagnostic imaging use after procedural intervention for nephrolithiasis is limited. We sought to characterize actual national imaging patterns and longitudinal trends after ureteroscopic or shockwave lithotripsy. MATERIALS & METHODS: We analyzed the MarketScan™ database and identified a nationally representative sample of insured employed patients, ages 17-64, who underwent ureteroscopic or shockwave lithotripsy between 2007-2014 for nephrolithiasis...
September 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28938410/gender-difference-in-the-clinical-presentation-of-primary-hyperparathyroidism-influence-of-menopausal-status
#16
Elena Castellano, Roberto Attanasio, Alberto Boriano, Micaela Pellegrino, Francesca Garino, Laura Gianotti, Giorgio Borretta
Background: Female to male ratio in primary hyperparathyroidism (PHPT) is 3:1, but data on gender impact on the clinical presentation are limited. Methods: We evaluated retrospectively gender difference in biochemistry and clinical presentation at diagnosis in a monocentric series of 417 patients with PHPT: 93 men (58.6 ±14.5 years), and 324 women (61.7 ± 12.8 years), of whom 54 were pre-menopausal (pre-F) and 270 post-menopausal (post-F). Results: Men were significantly younger (p = 0...
September 7, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28900827/lifetime-radiation-exposure-in-patients-with-recurrent-nephrolithiasis
#17
REVIEW
Mohamed A Elkoushy, Sero Andonian
Patients presenting with nephrolithiasis often undergo repeated imaging studies before, during, and after management. Considering the significant risk of stone recurrence in primary stone-formers, repeated imaging studies are not uncommon. Cumulative effects of ionizing radiation exposure from various imaging studies could potentially increase the risk for developing cataracts and solid malignancies in urolithiasis patients. Therefore, practitioners planning or performing imaging studies with ionizing radiation are compelled to keep radiation exposure to humans and the environment as low as possible, thus strictly adhering to the ALARA (As Low as Reasonably Achievable) principles...
September 12, 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28900379/postmenopausal-hormone-and-the-risk-of-nephrolithiasis-a-meta-analysis
#18
Juan Yu, Binyan Yin
Menopause is reported to be associated with increased urinary calcium excretion, which may enhance the risk for the development of calcium kidney stones. However, it remains controversial about whether high level of postmenopausal hormone (PMH) is a risk factor for formation of nephrolithiasis. Several observational studies have shown that PMH is protective based on 24-hour urinary parameters. Recent clinical trials provided evidence to conclude that estrogen therapy increases the risk of nephrolithiasis in healthy postmenopausal women...
2017: EXCLI journal
https://www.readbyqxmd.com/read/28893421/whole-exome-sequencing-frequently-detects-a-monogenic-cause-in-early-onset-nephrolithiasis-and%C3%A2-nephrocalcinosis
#19
Ankana Daga, Amar J Majmundar, Daniela A Braun, Heon Yung Gee, Jennifer A Lawson, Shirlee Shril, Tilman Jobst-Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jillian K Warejko, Eugen Widmeier, Caleb P Nelson, Hanan M Fathy, Zoran Gucev, Neveen A Soliman, Seema Hashmi, Jan Halbritter, Margarita Halty, Jameela A Kari, Sherif El-Desoky, Michael A Ferguson, Michael J G Somers, Avram Z Traum, Deborah R Stein, Ghaleb H Daouk, Nancy M Rodig, Avi Katz, Christian Hanna, Andrew L Schwaderer, John A Sayer, Ari J Wassner, Shrikant Mane, Richard P Lifton, Danko Milosevic, Velibor Tasic, Michelle A Baum, Friedhelm Hildebrandt
The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 years of age, using gene panel sequencing of 30 genes known to cause nephrolithiasis/nephrocalcinosis. To overcome the limitations of panel sequencing, we utilized whole exome sequencing in 51 families, who presented before age 25 years with at least one renal stone or with a renal ultrasound finding of nephrocalcinosis to identify the underlying molecular genetic cause of disease...
September 8, 2017: Kidney International
https://www.readbyqxmd.com/read/28893306/monitored-supplementation-of-vitamin-d-in-preterm-infants-mosvid-trial-study-protocol-for-a-randomised-controlled-trial
#20
Alicja Kołodziejczyk, Maria K Borszewska-Kornacka, Joanna Seliga-Siwecka
BACKGROUND: The pivotal role of vitamin D (vit D) in skeletal health is well known. Neonatal vit D storage at birth is dependent on maternal levels, and newborns receive 50-70% of their mother's 25-hydroxyvitamin D [25(OH)D]. Deficiency of vit D can lead to prematurity bone disease, with an incidence of up to 55% in infants weighing < 1000 g. The aim of this study is to assess the effectiveness of monitored supplementation of vit D in a population of preterm infants. METHODS/DESIGN: Preterm infants born at 24-32 weeks of gestation will be recruited within the first 7 days of life...
September 11, 2017: Trials
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