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nephrolithiasis causes

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https://www.readbyqxmd.com/read/28476903/endoscopic-nasobiliary-drainage-an-effective-treatment-option-for-benign-recurrent-intrahepatic-cholestasis-bric
#1
Ashok Choudhury, Anand V Kulkarni, Bishnupriya Sahoo, Chhagan Bihari
Benign recurrent intrahepatic cholestasis (BRIC) is characterised by recurrent episodes of jaundice, severe pruritus and low or normal serum γ-glutamyltransferase activity lasting from several weeks to months. BRIC is an autosomal recessive disorder caused by the mutation in either of the two hepatic transporter genes-ATP8B1 or ABCB11 gene. The disease is very well known for episodic flare of jaundice with cholestatic symptoms that are spontaneous or perpetuated by acute insults, followed by self-recovery...
May 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28433099/other-organ-involvement-and-clinical-aspects-of-wilson-disease
#2
Karolina Dzieżyc, Tomasz Litwin, Anna Członkowska
Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28430016/the-use-of-intravenous-lidocaine-for-the-management-of-acute-pain-secondary-to-traumatic-ankle-injury
#3
Billy Sin, Diana Gritsenko, Grace Tam, Kimberly Koop, Eva Mok
Sports-related injuries are a frequent cause of visits to the emergency department (ED) across the United States. A majority of these injuries affect the lower extremities with the ankle as the most frequently reported site. Most sports-related injuries are not severe enough to require inpatient hospitalization; however, they often lead to acute distress and pain which require prompt treatment with analgesics. Approximately 22% of patients who presented to the ED required pharmacotherapy for acute pain management...
January 1, 2017: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/28405703/metabolic-syndrome-contributes-to-renal-injury-mediated-by-hyperoxaluria-in-a-murine-model-of-nephrolithiasis
#4
Javier Sáenz-Medina, E Jorge, C Corbacho, M Santos, A Sánchez, P Soblechero, E Virumbrales, E Ramil, M J Coronado, I Castillón, D Prieto, J Carballido
Metabolic syndrome (MS) individuals have a higher risk of developing chronic kidney disease through unclear pathogenic mechanisms. MS has been also related with higher nephrolithiasis prevalence. To establish the influence of MS on renal function, we designed a murine model of combined metabolic syndrome and hyperoxaluria. Four groups of male Sprague-Dawley rats were established: (1) control group (n = 10) fed with standard chow; (2) stone former group (SF) (n = 10) fed with standard chow plus 0.75% ethylene glycol administered in the drinking water; (3) metabolic syndrome group (MS) (n = 10), fed with 60% fructose diet; (4) metabolic syndrome + stone former group (MS + SF) (n = 10), 60% fructose diet and 0...
April 12, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28399929/xanthogranulomatous-pyelonephritis-presenting-as-acute-pleuritic-chest-pain-a-case-report
#5
Justin Chow, Rameez Kabani, Kirstie Lithgow, Magdalena A Sarna
BACKGROUND: Xanthogranulomatous pyelonephritis is a rare and serious manifestation of chronic kidney inflammation that can be life-threatening if not recognized and treated appropriately, often with antibiotics and surgery. Affected patients are most commonly females in their fifth or sixth decade of life with a background of obstructive uropathy, nephrolithiasis, or recurrent urinary tract infections who present with vague nonspecific symptoms. CASE PRESENTATION: A 43-year-old woman of Russian ethnicity with a history of nephrolithiasis presented to our emergency department with new left-sided pleuritic chest pain amid a 6-week history of constitutional symptoms including fevers, night sweats, and 7 kg of weight loss...
April 12, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28379670/alternative-approach-of-a-fibroepithelial-polyp
#6
Cristiano Linck Pazeto, Willy Baccaglini, Thiago Fernandes Negris Lima, Alexandre Gomes S Simões, Sidney Glina
A 41-year-old male presented at Emergency Department (ED) with right flank pain associated with hematuria for 3 days. Patient had a previous history of nephrolithiasis. The physical examination and blood tests were normal. Urine analyses showed haematuria > 1.000.000/μL. After clinical evaluation, a computer tomography (CT) showed right ureteral dilata¬tion caused by a 5 mm proximal stone and a distal intraluminal mass of 8 cm in length. In this setting, an ureteroscopic biopsy was performed and revealed a large polypoid lesion histologically suggestive of fibroepithelial polyp...
April 6, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/28321341/singleton-merten-syndrome-a-rare-cause-of-early-onset-aortic-stenosis
#7
Harshavardhan Ghadiam, Sudhir Mungee
Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#8
Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28256207/androgen-deprivation-therapy-in-prostate-cancer-and-risk-of-developing-renal-calculi-results-of-a-case-control-study
#9
Enrique Javier Díaz Convalía, María Del Carmen Cano-García, José Luis Miján-Ortiz, Miguel Arrabal-Martín, Miguel Ángel Arrabal-Polo, José Manuel Cózar-Olmo
BACKGROUND AND OBJECTIVE: Androgenic deprivation therapy in prostate cancer is associated with the onset of different adverse effects, including osteoporosis and metabolic syndrome. Both are related to the onset of nephrolithiasis. The objective of this article is to study the incidence of renal stones in patients undergoing androgen deprivation therapy with LHRH analogue. PATIENTS AND METHODS: Case-control study including a total of 85 patients divided into 2 groups: group 1, with 41 patients on androgen deprivation therapy, and group 2, with 44 patients not receiving androgen deprivation therapy...
February 27, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28247641/-initial-experience-with-laparoscopic-anatrophic-nephrolithotomy
#10
A D Kochkin, A G Martov, F A Sevryukov, A V Knutov, V P Sergeev
Percutaneous nephrolithotomy is a recognized standard for minimally invasive treatment of large kidney stones. Percutaneous interventions for complete staghorn stones are associated with a higher risk of complications that precludes abandoning the traditional open operations, one of which is an anatrophic nephrolithotomy. This paper presents the first personal experience in laparoscopic transmesenteric anatrophic nephrolithotomy. The intervention was conducted in 3 patients (2 males and 1 female) aged 43 to 58 years, having a primary symptomatic complete left kidney staghorn stones sized from 7...
August 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28239050/necrotizing-suppurative-nephritis-in-a-japanese-black-feedlot-steer-due-to-proteus-mirabilis-infection
#11
Tadatsugu Abe, Ayako Iizuka, Hirokazu Kojima, Kumiko Kimura, Tomoyuki Shibahara, Makoto Haritani
A Japanese black feedlot steer suddenly died after exhibiting astasia and cramping of the extremities. Necropsy of the animal revealed that the right kidney was enlarged and pale with severe nephrolithiasis. The urinary bladder displayed mucosal hemorrhage. Upon bacteriological investigation, Proteus mirabilis was isolated from the liver, spleen, right kidney, lungs and urine. Histopathological examination revealed necrotizing suppurative nephritis with the presence of numerous gram-negative bacilli and fibrinous suppurative cystitis with no bacilli...
April 5, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28205286/association-of-mmp-9-gene-polymorphisms-with-nephrolithiasis-patients
#12
Atheer Awad Mehde, Wesen Adel Mehdi, Faridah Yusof, Raha Ahmed Raus, Zaima Azira Zainal Abidin, Hamid Ghazali, Azlina Abd Rahman
BACKGROUND: Nephrolithiasis is one of the causes which lead to chronic kidney disease (CKD). Matrix metalloproteinases (MMPs) are endopeptidases degrading extracellular matrix which correlate with the pathogenesis of atherosclerosis. The current study was designed to analyze the association of (R279Q, C1562T) polymorphism of MMP-9 with nephrolithiasis patients. METHODS: Genotyping of MMP-9/R279Q and of MMP-9/C1562T polymorphism were carried out by PCR-based restriction digestion method...
February 15, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28203466/idiopathic-renal-infarction-mimicking-appendicitis
#13
Marco Di Serafino, Rosa Severino, Chiara Gullotto, Francesco Lisanti, Enrico Scarano
Renal infarction is a rare cause of referral to the emergency department, with very low estimated incidence (0.004%-0.007%). Usually, it manifests in patients aged 60-70 with risk factors for thromboembolism, mostly related to heart disease, atrial fibrillation in particular. We report a case of idiopathic segmental renal infarction in a 38-year-old patient, presenting with acute abdominal pain with no previous known history or risk factors for thromboembolic diseases. Because of its aspecific clinical presentation, this condition can mimic more frequent pathologies including pyelonephritis, nephrolithiasis, or as in our case appendicitis...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28185107/protective-impact-of-resveratrol-in-experimental-rat-model-of-hyperoxaluria
#14
Taylan Oksay, Sedat Yunusoğlu, Mustafa Calapoğlu, I Aydın Candan, İbrahim Onaran, Osman Ergün, Alper Özorak
PURPOSE: Resveratrol (RES) is a polyphenol with antioxidant, anti-inflammatory, and many other physiological effects on tissues. In the present study, the effect of resveratrol in hyperoxaluria driven nephrolithiasis/nephrocalcinosis is investigated. METHODS: Wistar-Albino rats of 250-300 g (male, n = 24) were included in the present study. The rats were randomized into three groups: Group 1 consisted of the controls (n = 8), Group 2 of hyperoxaluria (1% ethylene glycol (EG), n = 8), and Group 3 of the treatment (1% EG + 10 mg/kg of RES, n = 8) group...
May 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28173653/-coenzyme-q-10-treatment-for-one-child-with-coq6-gene-mutation-induced-nephrotic-syndrome-and-literature-review
#15
Q Cao, G M Li, H Xu, Q Shen, L Sun, X Y Fang, H M Liu, W Guo, Y H Zhai, B B Wu
Objective: To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ(10) therapy. Method: Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ(10) 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy. Result: (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28131138/primary-hyperparathyroidism-effects-on-bone-health
#16
REVIEW
Kyle A Zanocco, Michael W Yeh
Primary hyperparathyroidism (PHPT) is the most common cause of chronic hypercalcemia. With the advent of routine calcium screening, the classic presentation of renal and osseous symptoms has been largely replaced with mild, asymptomatic disease. In hypercalcemia caused by PHPT, serum parathyroid hormone levels are either high, or inappropriately normal. A single-gland adenoma is responsible for 80% of PHPT cases. Less frequent causes include 4-gland hyperplasia and parathyroid carcinoma. Diminished bone mineral density and nephrolithiasis are the major current clinical sequelae...
March 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28093352/cyp24a1-loss-of-function-clinical-phenotype-of-monoallelic-and-biallelic-mutations
#17
REVIEW
Thomas O Carpenter
CYP24A1, encoding the vitamin D-24-hydroxylase, is of major clinical and physiologic importance, serving to regulate the catabolism of 1,25-(OH)2D, the physiologically active vitamin D metabolite. In addition to facilitating catabolism of 1,25-(OH)2D, CYP24A1 also enhances the turnover and elimination of 25-OHD, the abundant precursor metabolite and storage form of the vitamin. CYP24A1 can be stimulated hormonally by 1,25-(OH)2D and by FGF23, whereas CYP27B1, encoding the vitamin D-1α-hydroxylase, is stimulated hormonally by parathyroid hormone (PTH) and downregulated by FGF23...
January 13, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28048915/su-f-i-29-investigating-the-impact-of-the-amount-of-contrast-material-used-in-abdominal-ct-examinations-regarding-the-diagnosis-of-appendicolith
#18
E Lavdas, N Boci, L Sarantaenna, A Godevenos, I Ntavelis, T Theodoropoulos, G Zaimis, P Mavroidis
PURPOSE: The purpose of this study is to report the case of a young adult in which the incomplete oral administration of contrast material led to diagnosis of an appendicolith, which cause acute appendicitis. METHODS: A male 34 years old underwent CT examination due to acute abdominal pain in the upper abdomen. An ultrasound examination of the upper abdomen and kidneys, an x-ray examination of the abdomen and a CT scan of the entire abdomen and pelvis after both oral and IV administration of contrast material were performed...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28005240/complicated-pregnancies-in-inherited-distal-renal-tubular-acidosis-importance-of-acid-base-balance
#19
Harald Seeger, Peter Salfeld, Rüdiger Eisel, Carsten A Wagner, Nilufar Mohebbi
Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer from chronic kidney disease (CKD) with an increased risk for adverse pregnancy-related outcomes. Typical complications of dRTA include severe hypokalemia leading to cardiac arrhythmias and paralysis, nephrolithiasis and nephrocalcinosis...
December 22, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27994857/adenine-phosphoribosyltransferase-deficiency-in-the-united-kingdom-two-novel-mutations-and-a-cross-sectional-survey
#20
Gowrie S Balasubramaniam, Monica Arenas-Hernandez, Emilia Escuredo, Lynette Fairbanks, Tony Marinaki, Sarah Mapplebeck, Michael Sheaff, Michael K Almond
BACKGROUND: Adenine phosphoribosyltransferase deficiency is an inborn error of metabolism that can cause kidney disease from crystalline nephropathy or kidney stones. METHODS: We present three cases from a single centre with varied presentations to illustrate how increasing awareness led to better patient identification. We then undertook a cross-sectional survey of all the patients identified from the Purine Research Laboratory in the UK since 1974. RESULTS: Our index case presented with recurrent nephrolithiasis and was diagnosed on stone analysis, the second case presented with acute kidney injury and the third case was identified from a biopsy undertaken for acute on chronic kidney injury...
December 2016: Clinical Kidney Journal
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