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nephrolithiasis causes

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https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#1
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
#2
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
#3
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
#4
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 revealednecrotizing suppurative nephritis with the presence of numerous gram-negative bacilli and fibrinous suppurative cystitis with no bacilli...
February 24, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28205286/association-of-mmp-9-gene-polymorphisms-with-nephrolithiasis-patients
#5
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
#6
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
#7
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...
February 9, 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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27988260/myths-in-the-evaluation-and-management-of-ovarian-torsion
#14
Jennifer J Robertson, Brit Long, Alex Koyfman
BACKGROUND: Ovarian torsion is a rare but serious cause of pelvic pain in females. Making the diagnosis is important because misdiagnosis can lead to an ischemic ovary and subsequent infertility. OBJECTIVE: Although all emergency physicians are aware of ovarian torsion, there are several myths regarding its epidemiology, diagnosis, and treatment. This article attempts to review some of these myths to improve emergency diagnosis and evaluation. DISCUSSION: Ovarian torsion is not an easy diagnosis to make and it is commonly missed...
December 14, 2016: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27960024/-hyperuricemia-and-gout
#15
Elisa Delbarba, Vincenzo Terlizzi, Nadia Dallera, Claudia Izzi, Francesco Scolari
Already known to ancient Egyptians, gout is one of the first diseases which have been described as a clinical entity. To date, gout is the most common form of inflammatory arthritis. Gout is defined by the deposition of monosodium urate crystals within tissues, causing episodes of acute arthritis and the development of tophi, nephrolithiasis, and urate nephropathy. Hyperuricemia, i.e. levels of serum uric acid above 6.8 mg / dL(404mol/L), is a condition necessary, yet not sufficient for gout to develop. The increasing incidence of risk factors such as hypertension, obesity, and renal failure together with an ever-growing life expectancy has led in recent decades to a significant increase in gout prevalence, which has more than doubled when compared to the 1960s...
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27960020/-the-hyperoxalurias
#16
Martino Marangella, Michele Petrarulo, Francesca Bermond, Cristina Marcuccio, Corrado Vitale
Oxalate (Ox) is an end-product of metabolism, important for poor solubility of its calcium salt in biological fluids. Ox can therefore be found in about 70% of urinary calculi. Hyperoxaluria (HOx) defined as Ox exceeding 0.5 mmol)/day, may cause nephrolithiasis/nephrocalcinosis and may be classified as dietary (DH), enteric (EH) or primary (PH). Fractional intestinal absorption of Ox is less than 10%, but increases to over 20% at calcium intakes below 200 mg/day. DH is often related to low-calcium diets. EH is caused by non-absorbed fatty acids which bind to calcium and lower its concentration in the intestinal lumen...
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27932479/progress-in-understanding-the-genetics-of-calcium-containing-nephrolithiasis
#17
John A Sayer
Renal stone disease is a frequent condition, causing a huge burden on health care systems globally. Calcium-based calculi account for around 75% of renal stone disease and the incidence of these calculi is increasing, suggesting environmental and dietary factors are acting upon a preexisting genetic background. The familial nature and significant heritability of stone disease is known, and recent genetic studies have successfully identified genes that may be involved in renal stone formation. The detection of monogenic causes of renal stone disease has been made more feasible by the use of high-throughput sequencing technologies and has also facilitated the discovery of novel monogenic causes of stone disease...
March 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27921141/kidney-stones-diseases-and-glycaemic-statuses-focus-on-the-latest-clinical-evidences
#18
REVIEW
Leonardo Spatola, Claudio Angelini, Salvatore Badalamenti, Silvio Maringhini, Giovanni Gambaro
Diabetes and obesity are already recognized as potential risk factors for nephrolithiasis, especially for uric acid stones. Insulin resistance and hyperinsulinemia actively contribute to impaired ability to excrete an acid load and altered ammonium production, leading to a lower urinary pH compared to non-diabetic controls. All these electrolytic disorders play an important role in stone formation and aggregation, especially in uric acid stones. There are still missing points in scientific evidence if the increased risk in stone formation is already existing even in the prediabetic statuses (isolated impaired glucose tolerance, isolated impaired fasting glucose, and associated impaired glucose tolerance/impaired fasting glucose) as well as it is worth to consider the same level of risk...
December 5, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27915025/molecular-analysis-of-the-agxt-gene-in-patients-suspected-with-hyperoxaluria-type-1-and-three-novel-mutations-from-turkey
#19
Emel Isiyel, Sevcan A Bakkaloglu Ezgu, Salim Caliskan, Sema Akman, Ipek Akil, Yilmaz Tabel, Nurver Akinci, Elif Bahat Ozdogan, Ahmet Ozel, Fehime Kara Eroglu, Fatih S Ezgu
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1...
December 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27906637/prevalence-of-urat1-allelic-variants-in-the-roma-population
#20
Blanka Stiburkova, Dana Gabrikova, Pavel Čepek, Pavel Šimek, Pavol Kristian, Elizabeth Cordoba-Lanus, Felix Claverie-Martin
The Roma represents a transnational ethnic group, with a current European population of 8-10 million. The evolutionary process that had the greatest impact on the gene pool of the Roma population is called the founder effect. Renal hypouricemia (RHUC) is a rare heterogenous inherited disorder characterized by impaired renal urate reabsorption. The affected individuals are predisposed to recurrent episodes of exercise-induced nonmyoglobinuric acute kidney injury and nephrolithiasis. To date, more than 150 patients with a loss-of-function mutation for the SLC22A12 (URAT1) gene have been found, most of whom are Asians...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
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