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https://www.readbyqxmd.com/read/28729031/knockout-of-the-urate-oxidase-gene-provides-a-stable-mouse-model-of-hyperuricemia-associated-with-metabolic-disorders
#1
Jie Lu, Xu Hou, Xuan Yuan, Lingling Cui, Zhen Liu, Xinde Li, Lidan Ma, Xiaoyu Cheng, Ying Xin, Can Wang, Keke Zhang, Xuefeng Wang, Wei Ren, Ruixia Sun, Zhaotong Jia, Zibin Tian, Qing-Sheng Mi, Changgui Li
The urate oxidase (Uox) gene encodes uricase that in the rodent liver degrades uric acid into allantoin, forming an obstacle for establishing stable mouse models of hyperuricemia. The loss of uricase in humans during primate evolution causes their vulnerability to hyperuricemia. Thus, we generated a Uox-knockout mouse model on a pure C57BL/6J background using the transcription activator-like effector nuclease (TALEN) technique. These Uox-knockout mice spontaneously developed hyperuricemia (over 420 μmol/l) with about 40% survival up to 62 weeks...
July 17, 2017: Kidney International
https://www.readbyqxmd.com/read/28725949/tubulointerstitial-nephritis-induced-hypophosphatemic-osteomalacia-in-sj%C3%A3-gren-s-syndrome-a-case-report-and-review-of-the-literature
#2
REVIEW
Yan Geng, Youlu Zhao, Zhuoli Zhang
Sjögren's syndrome (SS) is a chronic autoimmune inflammatory disease that typically affects the salivary and lacrimal glands. Renal involvement is relatively uncommon and may precede other complaints. Tubulointestitial nephritis (TIN) is the most common renal involvement in SS. Osteomalacia occurring as the first manifestation of renal tubular disorder due to SS is very rare. We report a 39-year-old male who presented with polydipsia, polyuria, and multiple bone pain. Bone density test showed severe osteoporosis, and laboratory findings suggested hypokalemia, hypophosphatemia, and vitamin D deficiency, which supported the diagnosis of hypophosphatemic osteomalacia...
July 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28717082/post-cytokine-release-salt-wasting-as-inverse-tumor-lysis-syndrome-in-a-non-cerebral-natural-killer-cell-neoplasm
#3
Hirotsugu Ariizumi, Yosuke Sasaki, Hiroshi Harada, Yui Uto, Remi Azuma, Tomohide Isobe, Koji Kishimoto, Eisuke Shiozawa, Masafumi Takimoto, Nobuyuki Ohike, Hiraku Mori
The pathogenesis of cerebral/renal salt-wasting syndrome remains unknown. We herein present a case of salt-wasting syndrome with a natural killer-cell neoplasm without cerebral invasion. A 78-year-old man with hemophagocytic syndrome received two cycles of chemotherapy that did not induce tumor lysis syndrome, but repeatedly caused polyuria and natriuresis. The expression of tumor necrosis factor-α in the neoplasm led us to hypothesize that an oncolysis-induced cytokine storm may have caused renal tubular damage and salt wasting...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28712002/mutations-in-gfpt1-related-congenital-myasthenic-syndromes-are-associated-with-synaptic-morphological-defects-and-underlie-a-tubular-aggregate-myopathy-with-synaptopathy
#4
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients' muscle biopsies. We report here the first long-term clinical follow-up of 11 French individuals suffering from LG-CMS with TAs due to GFPT1 mutations, of which nine are new...
July 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28704395/intraperitoneal-pyrophosphate-treatment-reduces-renal-calcifications-in-npt2a-null-mice
#5
Daniel Caballero, Yuwen Li, Jonathan Fetene, Julian Ponsetto, Alyssa Chen, Chuanlong Zhu, Demetrios T Braddock, Clemens Bergwitz
Mutations in the proximal tubular sodium-dependent phosphate co-transporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis, however the relative contribution of genotype, dietary calcium and phosphate, and modifiers of mineralization such as pyrophosphate (PPi) to the formation of renal mineral deposits is unclear. In the present study, we used Npt2a-/- mice to model the renal calcifications observed in these disorders. We observed elevated urinary excretion of PPi in Npt2a-/- mice when compared to WT mice...
2017: PloS One
https://www.readbyqxmd.com/read/28703220/tumour-induced-osteomalacia
#6
REVIEW
Salvatore Minisola, Munro Peacock, Seijii Fukumoto, Cristiana Cipriani, Jessica Pepe, Sri Harsha Tella, Michael T Collins
Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 (FGF23). Owing to the role of FGF23 in renal phosphate handling and vitamin D synthesis, TIO is characterized by decreased renal tubular reabsorption of phosphate, by hypophosphataemia and by low levels of active vitamin D. Chronic hypophosphataemia ultimately results in osteomalacia (that is, inadequate bone mineralization). The diagnosis of TIO is usually suspected when serum phosphate levels are chronically low in the setting of bone pain, fragility fractures and muscle weakness...
July 13, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28699143/glutaric-aciduria-type-1-and-acute-renal-failure-case-report-and-suggested-pathomechanisms
#7
Marcel du Moulin, Bastian Thies, Martin Blohm, Jun Oh, Markus J Kemper, René Santer, Chris Mühlhausen
Glutaric aciduria type 1 (GA1) is caused by deficiency of the mitochondrial matrix enzyme glutaryl-CoA dehydrogenase (GCDH), leading to accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3OHGA) in tissues and body fluids. During catabolic crises, GA1 patients are prone to the development of striatal necrosis and a subsequent irreversible movement disorder during a time window of vulnerability in early infancy. Thus, GA1 had been considered a pure "cerebral organic aciduria" in the past. Single case reports have indicated the occurrence of acute renal dysfunction in children affected by GA1...
July 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28687525/smd-kozlowski-type-caused-by-p-arg594his-substitution-in-trpv4-reveals-abnormal-ossification-and-notochordal-remnants-in-discs-and-vertebrae
#8
Tadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, Krzysztof Bik, Lukasz Kuszel, Ewa Wasilewska, Kazimierz Kozlowski, Malwina Czarny-Ratajczak
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal involvement. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.4:c.1781G > A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral formation of the long and short tubular bones as well as round bones of the wrists and feet...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28682562/-renal-diseases-related-to-myh9-disorders
#9
Dario Galeano, Luca Zanoli, Vincenzo L'Imperio, Pasquale Fatuzzo, Antonio Granata
Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dominant disorders which has been known as May-Hegglin disease, Sebastian syndrome, Fechtner syndrome and Epstein syndrome. Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk of developing proteinuria, chronic kidney disease progressing toward end stage, sensorineural deafness and presenile cataracts...
April 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28682034/-fabry-s-disease-an-example-of-cardiorenal-syndrome-type-5
#10
Gianluca Villa, Stefano Romagnoli, Aashish Sharma, Claudio Ronco
Fabry's disease (FD) is a severe congenital metabolic disorder characterized by the deficient activity of lysosomal exoglycohydrolase alpha-galactosidase, characterized by glycosphingolipid deposition in several cells, such as capillary endothelial cells, renal, cardiac, and nerve cells. As a systemic disease leading to a contemporaneous myocardial and renal dysfunction, FD might be an example of cardiorenal syndrome type 5 (CRS-5). Kidney damage is commonly characterized by proteinuria, isosthenuria and altered tubular function when occurs at the second-third decade, azotemia and end-stage renal disease in third-fifth decade...
March 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28668213/increased-circulating-and-urinary-levels-of-soluble-tam-receptors-in-diabetic-nephropathy
#11
Peter Ochodnicky, Lionel Lattenist, Mohamed Ahdi, Jesper Kers, Melissa Uil, Nike Claessen, Jaklien C Leemans, Sandrine Florquin, Joost C M Meijers, Victor E A Gerdes, Joris J T H Roelofs
TAM receptors (Tyro3, Axl, and Mer) have been implicated in regulation of innate immunity. Circulating levels of TAM receptor soluble forms (sTyro3, sAxl, sMer) are related to autoimmune disorders. We investigated levels of TAM and their ligand protein S in patients with diabetes. Urinary and plasma levels of protein S, sTyro3, sAxl, and sMer were determined by enzyme-linked immunosorbent assay in 126 patients with diabetes assigned to a normoalbuminuric or macroalbuminuric (urinary albumin excretion <30 mg/24 hours and >300 mg/24 hours, respectively) study group and 18 healthy volunteers...
June 29, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28664159/rediscovering-beta-2-microglobulin-as-a-biomarker-across-the-spectrum-of-kidney-diseases
#12
REVIEW
Christos P Argyropoulos, Shan Shan Chen, Yue-Harn Ng, Maria-Eleni Roumelioti, Kamran Shaffi, Pooja P Singh, Antonios H Tzamaloukas
There is currently an unmet need for better biomarkers across the spectrum of renal diseases. In this paper, we revisit the role of beta-2 microglobulin (β2M) as a biomarker in patients with chronic kidney disease and end-stage renal disease. Prior to reviewing the numerous clinical studies in the area, we describe the basic biology of β2M, focusing in particular on its role in maintaining the serum albumin levels and reclaiming the albumin in tubular fluid through the actions of the neonatal Fc receptor...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28662078/dpagt1-cdg-functional-analysis-of-disease-causing-pathogenic-mutations-and-role-of-endoplasmic-reticulum-stress
#13
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransferase (GPT), the protein encoded by DPAGT1, is an endoplasmic reticulum (ER)-resident protein involved in an initial step in the N-glycosylation pathway. The aim of the present study was to examine the effect of six variants in DPAGT1 detected in patients with DPAGT1-CDG, and the role of endoplasmic reticulum stress, as part of the search for therapeutic strategies to use against DPAGT1-CDG...
2017: PloS One
https://www.readbyqxmd.com/read/28653858/transplantation-of-a-human-tissue-engineered-bowel-in-an-athymic-rat-model
#14
Elie Zakhem, Riccardo Tamburrini, Giuseppe Orlando, Kenneth L Koch, Khalil N Bitar
Intestinal failure is a serious clinical condition characterized by loss of motility, absorptive function, and malnutrition. Current treatments do not provide the optimal solution for patients due to the numerous resulting complications. A bioengineered bowel that contains the necessary cellular components provides a viable option for patients. In this study, human tissue-engineered bowel (hTEB) was developed using a technique, whereby human-sourced smooth muscle cells were aligned and neoinnervated using human-sourced neural progenitor cells, resulting in the formation of intrinsically innervated smooth muscle sheets...
June 27, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28649076/renal-clearance-and-urinary-excretion-of-omeprazole-in-healthy-female-volunteers-in-pakistan
#15
Nazia Qadir, Tanweer Khaliq, Rai Altaf Hussain, Ghulam Abbas Shah, Sadia Asharaf, Ahmad Raza, Nadia Noor
Omeprazole is a widely prescribed proton pump inhibitor to treat various gastric acid hyper secretion disorders. The present study was designed to evaluate the renal clearance and urinary excretion of omeprazole in eight healthy female volunteers to increase the understanding of the contributing factors such as demographics variability in the renal clearance and urinary excretion of omeprazole under indigenous conditions. The urine and blood samples were collected 0.5, 1, 1.5, 2, 3, 4, 6, 8 hours after oral administration of enteric coated omeprazole (20 mg) and drug concentration in the samples was determined by High Performance Liquid Chromatography (HPLC) with C18 column and UV detector...
March 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28636607/three-dimensional-cell-shapes-and-arrangements-in-human-sweat-glands-as-revealed-by-whole-mount-immunostaining
#16
Ryuichiro Kurata, Sugiko Futaki, Itsuko Nakano, Fumitaka Fujita, Atsushi Tanemura, Hiroyuki Murota, Ichiro Katayama, Fumihiro Okada, Kiyotoshi Sekiguchi
Because sweat secretion is facilitated by mechanical contraction of sweat gland structures, understanding their structure-function relationship could lead to more effective treatments for patients with sweat gland disorders such as heat stroke. Conventional histological studies have shown that sweat glands are three-dimensionally coiled tubular structures consisting of ducts and secretory portions, although their detailed structural anatomy remains unclear. To better understand the details of the three-dimensional (3D) coiled structures of sweat glands, a whole-mount staining method was employed to visualize 3D coiled gland structures with sweat gland markers for ductal luminal, ductal basal, secretory luminal, and myoepithelial cells...
2017: PloS One
https://www.readbyqxmd.com/read/28625483/silymarin-protects-against-renal-injury-through-normalization-of-lipid-metabolism-and-mitochondrial-biogenesis-in-high-fat-fed-mice
#17
Bin Feng, Ran Meng, Bin Huang, Yan Bi, Shanmei Shen, Dalong Zhu
Obesity is associated with an increased risk of chronic kidney diseases and the conventional treatment with renin-angiotensin-aldosterone system (RAAS) inhibitors is not enough to prevent renal injury and prolong the progression of disease. Recently, silymarin has shown protective effects on renal tissue injury, but the underlying mechanisms remain elusive. The goal of this study was to investigate the potential capacity of silymarin to prevent renal injury during obesity induced by high fat diet (HFD) in mice...
June 15, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#18
Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28620355/role-of-the-vasopressin-apelin-balance-and-potential-use-of-metabolically-stable-apelin-analogs-in-water-metabolism-disorders
#19
REVIEW
Adrien Flahault, Pierre Couvineau, Rodrigo Alvear-Perez, Xavier Iturrioz, Catherine Llorens-Cortes
Apelin, a (neuro)vasoactive peptide, plays a prominent role in controlling body fluid homeostasis and cardiovascular functions. In animal models, experimental data demonstrate that intracerebroventricular injection of apelin into lactating rats inhibits the phasic electrical activity of arginine vasopressin (AVP) neurons, reduces plasma AVP levels, and increases aqueous diuresis. In the kidney, apelin increases diuresis by increasing the renal microcirculation and by counteracting the antidiuretic effect of AVP at the tubular level...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28614243/different-types-of-glomerulonephritis-associated-with-the-dysregulation-of-the-complement-alternative-pathway-in-2-brothers-a-case-report
#20
Pei Chen, Li Zhu, Feng Yu, Sha-Sha Han, Si-Jun Meng, Wei-Yi Guo, Hong Zhang, Yan Song
RATIONALE: C3 glomerulonephritis (C3GN) and complement-mediated hemolytic uremic syndrome (HUS) both result from the abnormal regulation of the complement system. A significant number of patients with C3GN or complement-mediated HUS have mutations of more than 1 complement protein. This discovery has had a major impact on identifying the underlying cause of familial C3GN or complement-mediated HUS. PATIENT CONCERNS: We report the cases of 2 brothers (herein referred to as patient II-1 and patient II-9), both with complement disorders that differed in their clinical and genetic features...
June 2017: Medicine (Baltimore)
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