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Hypercalciuria

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https://www.readbyqxmd.com/read/28623397/different-effects-of-%C3%AE-linolenic-acid-gla-supplementation-on-plasma-and-red-blood-cell-phospholipid-fatty-acid-composition-and-calcium-oxalate-kidney-stone-risk-factors-in-healthy-subjects-from-two-race-groups-with-different-risk-profiles-pose-questions-about
#1
Allen L Rodgers, Dalielah Jappie-Mahomed, Paul J van Jaarsveld
Fatty acid (FA) composition of phospholipids in plasma and red blood cells (RBC) can influence calciuria, oxaluria and renal stone formation. In this regard, the ratio of arachidonic acid (AA) and its precursor linoleic acid (LA) appears to be important. Administration of γ-linolenic acid (GLA) has been shown to increase the concentration of dihomo-gamma linoleic acid (DGLA) relative to AA indicating that it may attenuate biosynthesis of the latter. Such effects have not been investigated in race groups having difference stone occurrence rates...
June 16, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28596736/claudin-loss-of-function-disrupts-tight-junctions-and-impairs-amelogenesis
#2
Claire Bardet, Sandy Ribes, Yong Wu, Mamadou Tidiane Diallo, Benjamin Salmon, Tilman Breiderhoff, Pascal Houillier, Dominik Müller, Catherine Chaussain
Claudins are a family of proteins that forms paracellular barriers and pores determining tight junctions (TJ) permeability. Claudin-16 and -19 are pore forming TJ proteins allowing calcium and magnesium reabsorption in the thick ascending limb of Henle's loop (TAL). Loss-of-function mutations in the encoding genes, initially identified to cause Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), were recently shown to be also involved in Amelogenesis Imperfecta (AI). In addition, both claudins were expressed in the murine tooth germ and Claudin-16 knockout (KO) mice displayed abnormal enamel formation...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28587907/-a-family-history-of-renal-lithiasis-in-children-diagnosed-of-urinary-tract-infection-by-escherichia-coli
#3
Víctor García Nieto, Jorge Sotoca Fernández, Monica O'Hagan, Pedro Arango Sancho, Maria Isabel Luis Yanes
INTRODUCTION: Urinary tract infections (UTI) caused by Escherichia coli (E. coli) are common in patients with idiopathic hypercalciuria. As both UTI and hypercalciuria (prelithiasis) have a genetic basis, we wanted to know whether the family history of urolithiasis is more common in children with UTIs caused by E. coli. Secondarily, we wondered if the renal scars are more common in children with prelithiasis. MATERIAL AND METHODS: Ambispective study with collected data from 104 patients (40 male, 64 female) followed after having been diagnosed of UTI by E...
June 3, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28580383/resection-of-granulomatous-tissue-resolves-silicone-induced-hypercalcemia
#4
Beatrice J Edwards, Smita Saraykar, Ming Sun, William A Murphy, Pei Lin, Robert Gagel
Because of the increasing trend of body contour enhancements with injections, implants, and fillers, clinicians should be on high alert for the possibility of silicone-induced hypercalcemia as one of the differential diagnoses in a patient with history of silicone use. Hypercalcemia as a result of silicone injections has been reported, and there is concern that there will be more cases given the popularity of cosmetic silicone. Cases involved a mother and daughter (70 & 55 years) who presented in 2013 with hypercalcemia after cosmetic silicone injections in 2007...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28580211/dent-disease-same-clcn5-mutation-but-different-phenotypes-in-two-brothers-in-china
#5
Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28553597/efficacy-of-teriparatide-in-patients-with-hypoparathyroidism-a-prospective-open-label-study
#6
Vimal Upreti, Shrikant Somani, Narendra Kotwal
CONTEXT: Conventional treatment of hypoparathyroidism with calcium, Vitamin D analogs, and thiazide diuretics is often suboptimal, and these patients have poor quality of life. Teriparatide (parathyroid hormone 1-34 [PTH (1-34)]), an amide of PTH, is widely available for the use in osteoporosis; however, its use in hypoparathyroidism is limited. AIMS: The aim of this study is to evaluate the efficacy of PTH (1-34) in the treatment of patients with hypoparathyroidism...
May 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28551925/-clinical-characteristics-of-male-patients-with-osteoporosis-referred-to-the-endocrine-clinic-of-a-tertiary-hospital
#7
Gloria Tsvetov, Ilana Shraga-Slutzky, Dania Hirsch, Hiba Masri, Tzippy Shohat, Alexander Gorshtein, Ilan Shimon
INTRODUCTION: Osteoporosis in men is underdiagnosed and undertreated. The prevalence of male osteoporosis increases with age and it becomes a significant public health burden. Currently, there are a few clinical studies on male osteoporosis with limited knowledge of effective therapeutic options. AIMS: Our study aimed to characterize men with osteoporosis in a referral metabolic clinic in Rabin Medical Center at the Beilinson Campus. METHODS: In this study we retrospectively analyzed the medical records of 270 consecutive male patients with osteoporosis diagnosed and treated in our clinic during 2013...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28540894/a-randomized-controlled-trial-of-the-effects-of-hydrochlorothiazide-on-overactive-bladder-and-idiopathic-hypercalciuria
#8
Parsa Yousefichaijan, Fatemeh Dorreh, Mohammad Rafiei, Mahdyieh Naziri, Atefeh Azimnejad
Overactive bladder is a stressful condition which affects around 15%-20% of 5- year-old and up to 2% of young adults. One of the most common causes of overactive bladder is hypercalciuria. Our study investigated the effect of hydrochlorothiazide (HCTZ) on overactive bladder and hypercalciuria. This randomized controlled trial was conducted on 88 patients with overactive bladder and idiopathic hypercalciuria. They were randomly divided into the intervention group receiving 1 mg/kg/day of HCTZ for 3 months, and the control group receiving training without any intervention...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28522130/primary-hyperparathyroidism-hypercalciuria-and-bone-recovery-after-parathyroidectomy
#9
Inga-Lena Nilsson, Sophie Norenstedt, Jan Zedenius, Ylva Pernow, Robert Bränström
BACKGROUND: In primary hyperparathyroidism, successful parathyroidectomy leads to improved bone mineral density in the majority of cases. Our aim was to further explore the relationship between hypercalciuria, kidney function, and bone recovery after parathyroidectomy. METHODS: Bone mineral density, estimated glomerular filtration rate, and 24-hour urinary calcium were analyzed before and one year after parathyroidectomy in a cohort of 150 primary hyperparathyroidism patients (119 women; median age 60 [range 30-80] years) taking part in a clinical trial...
May 15, 2017: Surgery
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#10
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#11
Bronwen E Warner, Carol D Inward, Christine P Burren
SUMMARY: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458767/evaluation-of-vitamin-d3-intakes-up-to-15-000-international-units-day-and-serum-25-hydroxyvitamin-d-concentrations-up-to-300-nmol-l-on-calcium-metabolism-in-a-community-setting
#12
S M Kimball, N Mirhosseini, M F Holick
Supplementation by the general public with vitamin D at doses above the Tolerable Upper Level of Intake (UL) is becoming quite common. The objective of the current analysis was to characterize the effect of vitamin D supplementation at doses up to 15,000 IU/d in a community-based program on vitamin D status, calcium homeostasis as well as on kidney, liver and immune function. We evaluated data collected for 3,882 participants in a community program for whom there were blood measurements at program entry and at follow-up within 6-18 months between 2013 and 2015...
2017: Dermato-endocrinology
https://www.readbyqxmd.com/read/28458427/antiurolithiatic-and-antioxidant-efficacy-of-musa-paradisiaca-pseudostem-on-ethylene-glycol-induced-nephrolithiasis-in-rat
#13
Padma Nibash Panigrahi, Sahadeb Dey, Monalisa Sahoo, Ananya Dan
OBJECTIVE: Musa paradisiaca has been used in the treatment of urolithiasis by the rural people in South India. Therefore, we plan to evaluate its efficacy and possible mechanism of antiurolithiatic effect to rationalize its medicinal use. MATERIALS AND METHODS: Urolithiasis was induced in hyperoxaluric rat model by giving 0.75% ethylene glycol (EG) for 28 days along with 1% ammonium chloride (AC) for the first 14 days. Antiurolithiatic effect of aqueous-ethanol extract of M...
January 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/28457074/nephrolithiasis-in-israel-epidemiological-characteristics-of-return-patients-in-a-tertiary-care-center
#14
Yasmin Abu-Ghanem, Nir Kleinmann, Harry Z Winkler, Dorit E Zilberman
BACKGROUND: The prevalence and etiology of nephrolithiasis vary, depending on geography, gender and ethnicity. OBJECTIVES: To analyze the demographic data of return nephrolithiasis patients in a tertiary care center. METHODS: We retrospectively reviewed our prospective registry database of return patients seen at our outpatient clinic for nephrolithiasis. Data included gender, age at first visit, age at first stone event, body mass index (BMI), self-reported hypertension, diabetes mellitus (DM), and hyperlipidemia...
December 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28448530/response-of-npt2a-knockout-mice-to-dietary-calcium-and-phosphorus
#15
Yuwen Li, Daniel Caballero, Julian Ponsetto, Alyssa Chen, Chuanlong Zhu, Jun Guo, Marie Demay, Harald Jüppner, Clemens Bergwitz
Mutations in the renal sodium-dependent phosphate co-transporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis, but the relative contribution of genotype, dietary calcium and phosphate to the formation of renal mineral deposits is unclear. We previously reported that renal calcium phosphate deposits persist and/or reappear in older Npt2a-/- mice supplemented with phosphate despite resolution of hypercalciuria while no deposits are seen in wild-type (WT) mice on the same diet...
2017: PloS One
https://www.readbyqxmd.com/read/28443817/childhood-sustained-hypercalcemia-a-diagnostic-challenge
#16
Nisa Eda Çullas İlarslan, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVE: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention. METHODS: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. RESULTS: Twenty patients (11 male, 9 female) with a median age of 6,25 (0,03-17,88) years were evaluated...
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28422036/physicochemical-factors-of-the-urine-of-children-with-hypercalciuria
#17
Mercedes Ubetagoyena-Arrieta, Jorge Martínez Sáenz de Jubera, María Nieves Corera-Casty, Eduardo González Pérez-Yarza, Irati García-Albizua
OBJECTIVE: Hypercalciuria is a common lithogenic risk factor. The aim of this study was, first, to study the characteristics of urine biochemical factors of children with hypercalciuria (HC) and compare them with those of children without hypercalciuria. Second, to analyze the differences between children with HC and lithiasis (HCL) and children with HC and no lithiasis (HCNL). METHODS: The sample was composed by 111 cases with HC, divided into 2 groups: HCNL group, consisting of 93 cases with no personal history of kidney stones, and HCL group, 18 cases with personal history of kidney stones...
April 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28420322/epidemiology-of-paediatric-renal-stone-disease-a-22-year-single-centre-experience-in-the-uk
#18
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/28388724/thiazide-treatment-in-primary-hyperparathyroidism-a-new-indication-for-an-old-medication
#19
Gloria Tsvetov, Dania Hirsch, Ilan Shimon, Carlos Benbassat, Hiba Masri-Iraqi, Alexander Gorshtein, Dana Herzberg, Tzippy Shochat, Ilana Shraga-Slutzky, Talia Diker-Cohen
Context: There is no therapy for control of hypercalciuria in nonoperable patients with primary hyperparathyroidism (PHPT). Thiazides are used for idiopathic hypercalciuria but are avoided in PHPT to prevent exacerbating hypercalcemia. Nevertheless, several reports suggested that thiazides may be safe in patients with PHPT. Objective: To test the safety and efficacy of thiazides in PHPT. Design: Retrospective analysis of medical records. Setting: Endocrine clinic at a tertiary hospital...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#20
Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour-Hendili, Pierre-Yves Courand, Christophe Simian, Georges Deschenes, Theresa Kwon, Aurélia Bertholet-Thomas, Guillaume Bobrie, Jean Sébastien Borde, Guylhène Bourdat-Michel, Stéphane Decramer, Mathilde Cailliez, Pauline Krug, Paul Cozette, Jean Daniel Delbet, Laurence Dubourg, Dominique Chaveau, Marc Fila, Noémie Jourde-Chiche, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Djamal Djeddi, Brigitte Llanas, Ferielle Louillet, Elodie Merieau, Maria Mileva, Luisa Mota-Vieira, Christiane Mousson, François Nobili, Robert Novo, Gwenaëlle Roussey-Kesler, Isabelle Vrillon, Stephen B Walsh, Jacques Teulon, Anne Blanchard, Rosa Vargas-Poussou
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations...
April 5, 2017: Journal of the American Society of Nephrology: JASN
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