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https://www.readbyqxmd.com/read/29350173/membranoproliferative-glomerulonephritis-and-interstitial-nephritis-in-the-setting-of-epstein-barr-virus-related-hemophagocytic-syndrome%C3%A2
#1
Iolanda Godinho, Estela Nogueira, Sofia Jorge, António Teixeira Alves, António Gomes da Costa
BACKGROUND: Hemophagocytic syndrome (HPS) is a rare, aggressive disorder characterized by dysregulation of lymphocyte and macrophage activity, which culminates in tissue infiltration with hemophagocytosis and ultimately organ failure. Renal involvement frequently ensues and usually results in acute tubular necrosis with associated interstitial inflammation. Less frequently, glomerulopathy can also be found. CASE: We report a case of a 24-year-old Caucasian woman with previous asymptomatic hematuria, mild proteinuria, and normal renal function who presented to us with fever...
January 19, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29333842/an-adolescent-with-idiopathic-pleuroparenchymal-fibroelastosis-case-report
#2
Emine Atag, Nilay Bas Ikizoglu, Yasemin Gokdemir, Ela Erdem Eralp, Gursu Kiyan, Dilek Yilmazbayhan, Bulent Karadag
Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a rare disorder recently included in rare idiopathic interstitial pneumonias according to the updated American Thoracic Society/European Respiratory Society classification. IPPFE is characterized by pleural and subpleural parenchymal fibrosis causing volume loss predominantly in the upper lung lobes. Age of onset is variable, IPPFE mainly occurs in third and fourth decades. We present a 16 year old patient with a 2-year history of exertional dyspnea, nonproductive cough and weight loss...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29328408/genistein-attenuates-di%C3%A2-2%C3%A2-ethylhexyl-phthalate-induced-testicular-injuries-via-activation-of-nrf2-ho%C3%A2-1-following-prepubertal-exposure
#3
Liandong Zhang, Hecheng Li, Ming Gao, Tongdian Zhang, Zhizhong Wu, Ziming Wang, Tie Chong
Di‑(2‑ethylhexyl) phthalate (DEHP) and genistein (GEN) are of the most common endocrine disrupting chemicals (EDCs) present in the environment or the diet. However, investigation of the effects of acute exposure to these two EDCs during prepuberty has been lacking. In this study, DEHP and GEN were administrated to prepubertal male Sprague‑Dawley rats by gavage from PND22 to PND35 with vehicle control, GEN 50 mg/kg body weight (bw)/day, DEHP50, 150 and 450 mg/kg bw/day, and combined treatment. Reproductive parameters including testis weight, anogenital distance and organ coefficient were evaluated on PND36...
January 9, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29310824/c3-glomerulonephritis-and-dense-deposit-disease-share-a-similar-disease-course-in-a-large-united-states-cohort-of-patients-with-c3-glomerulopathy
#4
Andrew S Bomback, Dominick Santoriello, Rupali S Avasare, Renu Regunathan-Shenk, Pietro A Canetta, Wooin Ahn, Jai Radhakrishnan, Maddalena Marasa, Paul E Rosenstiel, Leal C Herlitz, Glen S Markowitz, Vivette D D'Agati, Gerald B Appel
C3 glomerulonephritis (C3GN) and dense deposit disease comprise the two classes of C3 glomerulopathy. Studies from Europe and Asia have aided our understanding of this recently defined disorder, but whether these data apply to a diverse United States patient population remains unclear. We, therefore, reviewed clinical and histopathological data, including generation of a C3 Glomerulopathy Histologic Index to score biopsy activity and chronicity, to determine predictors of progression to end-stage renal disease (ESRD) and advanced chronic kidney disease (CKD) in 111 patients (approximately 35% non-white) with C3 glomerulopathy: 87 with C3GN and 24 with dense deposit disease...
January 6, 2018: Kidney International
https://www.readbyqxmd.com/read/29307545/pfe-360-induced-lrrk2-inhibition-induces-reversible-non-adverse-renal-changes-in-rats
#5
Michael Aagaard Andersen, Karen Malene Wegener, Steen Larsen, Lassina Badolo, Garrick Paul Smith, Ross Jeggo, Poul Henning Jensen, Florence Sotty, Kenneth Vielsted Christensen, Annemette Thougaard
Parkinson's disease (PD) is a progressive neurodegenerative disorder for which there is no existing therapeutic approach to delay or stop progression. Genetic, biochemical and pre-clinical studies have provided evidence that leucine-rich-repeat-kinase-2 (LRRK2) kinase is involved in the pathogenesis of PD, and small molecule LRRK2 inhibitors represent a novel potential therapeutic approach. However, potentially adverse target-related effects have been discovered in the lung and kidneys of LRRK2 knock-out (ko) mice and rats...
January 4, 2018: Toxicology
https://www.readbyqxmd.com/read/29286387/establishment-of-an-extracellular-acidic-ph-culture-system
#6
Ayano Kondo, Tsuyoshi Osawa
Conditions of the tumor microenvironment, such as hypoxia or nutrient starvation, play critical roles in cancer progression and malignancy. However, the role of acidic extracellular pH in tumor aggressiveness and its underlying mechanism has not been extensively studied compared to hypoxic or nutrient starvation conditions. In addition, a well-defined culture method to mimic the acidic extracellular tumor microenvironment has not been fully reported. Here we present a simple in vitro culture method to maintain acidic extracellular pH using reduced bicarbonate and increased lactate or HCl concentrations in the culture medium...
November 19, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29280738/genetic-causes-of-rickets
#7
Sezer Acar, Korcan Demir, Yufei Shi
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B)...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29258482/assessing-the-recovery-from-prerenal-and-renal-acute-kidney-injury-after-treatment-with-single-herbal-medicine-via-activity-of-the-biomarkers-hmgb1-ngal-and-kim-1-in-kidney-proximal-tubular-cells-treated-by-cisplatin-with-different-doses-and-exposure-times
#8
Sung-Man Oh, Gunhyuk Park, Seung Hoon Lee, Chang-Seob Seo, Hyeun-Kyoo Shin, Dal-Seok Oh
BACKGROUND: Acute kidney injury (AKI) is an initial factor in many kidney disorders. Pre- and intra-renal AKI biomarkers have recently been reported. Recovery from AKI by herbal medicine has rarely been reported. Thus, this study aimed to investigate the dose- and time-dependent effects of herbal medicines to protect against AKI in cisplatin-induced human kidney 2 (HK-2) cells by assessing the activities of high-mobility group box protein 1 (HMGB1), neutrophil gelatinase-associated lipocalin (NGAL) and kidney injury molecule-1 (KIM-1)...
December 19, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/29246420/lmx1b-associated-nephropathy-with-type-iii-collagen%C3%A2-deposition-in-the-glomerular-and-tubular-basement%C3%A2-membranes
#9
Nicole K Andeen, Jennifer Schleit, Christopher D Blosser, Michael O Dorschner, Fuki Marie Hisama, Kelly D Smith
Variants in the LMX1B gene cause nail-patella syndrome, a rare autosomal dominant disorder characterized by dysplasia of nails, patella and elbow abnormalities, iliac "horns," and glaucoma. We describe an adult man with nephrotic syndrome and no systemic manifestations of nail-patella syndrome at the time of his initial kidney biopsy. His kidney biopsy was initially interpreted as a form of segmental sclerosis with unusual fibrillar deposits. At the time of consideration for kidney transplantation, a family history was notable for end-stage renal disease in 3 generations...
December 12, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29237739/salt-losing-tubulopathies-in-children-what-s-new-what-s-controversial
#10
Robert Kleta, Detlef Bockenhauer
Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of the homeostatic functions of the kidney. Yet, owing to the rarity of these disorders, little clinical evidence regarding treatment exists. Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, reported clinical observations, and individual experiences...
December 13, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29220070/recurrent-hypokalemia-leading-to-flaccid-quadriparesis-a-renal-or-connective-tissue-disorder
#11
Nitin Bansal, Panda Ashwin Kumar, Mukul P Agarwal, Amitesh Aggarwal
Hypokalemic periodic paralysis (hypoKPP) is a clinical entity characterized by recurrent skeletal muscle paralysis due to a decrease in serum potassium levels; hypoKPP can have either a primary (familial) or a secondary cause. One of the secondary causes of hypoKPP is distal renal tubular acidosis (dRTA). Distal renal tubular acidosis (dRTA) is diagnosed when the urinary pH is greater than 5.3 and in the presence of hyperchloremic metabolic acidosis and hypokalemia, with one of the causes being primary Sjögren's syndrome (pSS)...
December 2017: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/29219052/adverse-events-of-proton-pump-inhibitors-potential-mechanisms
#12
Andrea Corsonello, Fabrizia Lattanzio, Silvia Bustacchini, Sabrina Garasto, Annalisa Cozza, Roberto Schepisi, Federica Lenci, Filippo Luciani, Marcello Giuseppe Maggio, Andrea Ticinesi, Valeria Butto, Sara Tagliaferri, Francesco Corica
OBJECTIVE: We aimed at summarizing current evidence about mechanisms for potentially harmful effects of proton pump inhibitors (PPIs). METHODS: A Pubmed search was performed, and 207 studies concerning the relationship between use of PPIs and cardiovascular diseases, kidney impairment, nutritional disorders, fractures, infections, functional decline, and mortality were selected and reviewed. RESULTS: PPIs may cause potentially harmful effects by several mechanisms, including endothelial dysfunction, hypomagnesemia, drug interactions, reduced absorption of selected nutrients, increased gastric microbiota and small intestine bacterial overgrowth, reduced immune response, tubular-interstitial inflammation, increased bone turnover, accumulation of amyloid in the brain...
December 7, 2017: Current Drug Metabolism
https://www.readbyqxmd.com/read/29212860/reference-values-of-renal-tubular-function-tests-are-dependent-on-age-and-kidney-function
#13
Anneke P Bech, Jack F M Wetzels, Tom Nijenhuis
Electrolyte disorders due to tubular disorders are rare, and knowledge about validated clinical diagnostic tools such as tubular function tests is sparse. Reference values for tubular function tests are based on studies with small sample size in young healthy volunteers. Patients with tubular disorders, however, frequently are older and can have a compromised renal function. We therefore evaluated four tubular function tests in individuals with different ages and renal function. We performed furosemide, thiazide, furosemide-fludrocortisone, and desmopressin tests in healthy individuals aged 18-50 years, healthy individuals aged more than 50 years and individuals with compromised renal function...
December 2017: Physiological Reports
https://www.readbyqxmd.com/read/29210454/the-functional-roles-of-retromer-in-parkinson-s-disease
#14
REVIEW
Yi Cui, Zhe Yang, Rohan D Teasdale
The endosomal system is critical for the maintenance of intracellular homeostasis, and defects in this system are often linked to neurological disorders. The retromer complex is a critical coordinator of endosomal dynamics and has functional roles in multiple cellular processes through sorting cargoes from endosomes to the trans-Golgi network (TGN) or to the plasma membrane. Mammalian retromer comprises a core Vps26-Vps35-Vps29 trimer and associates with a range of proteins to generate endosomal tubular-vesicular carriers...
December 6, 2017: FEBS Letters
https://www.readbyqxmd.com/read/29191563/tgf-%C3%AE-1-p53-signaling-in-renal-fibrogenesis
#15
Stephen P Higgins, Yi Tang, Craig E Higgins, Badar Mian, Wenzheng Zhang, Ralf-Peter Czekay, Rohan Samarakoon, David J Conti, Paul J Higgins
Fibrotic disorders of the renal, pulmonary, cardiac, and hepatic systems are associated with significant morbidity and mortality. Effective therapies to prevent or curtail the advancement to organ failure, however, remain a major clinical challenge. Chronic kidney disease, in particular, constitutes an increasing medical burden affecting >15% of the US population. Regardless of etiology (diabetes, hypertension, ischemia, acute injury, urologic obstruction), persistently elevated TGF-β1 levels are causatively linked to the activation of profibrotic signaling networks and disease progression...
November 28, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/29190002/dentoalveolar-abscesses-not-associated-with-caries-or-trauma-a-diagnostic-hallmark-of-hypophosphatemic-rickets-initially-misdiagnosed-as-hypochondroplasia
#16
Silvia Elena Yacarini Paredes, Raquel Assed Bezerra Segato, Leila Daher Moreira, Alcides Moreira, Kranya Victoria Díaz Serrano, Clarissa Teles Rodrigues, Luciana Yamamoto Almeida, Jorge Esquiche León
Hypophosphatemic rickets is a rare genetic disorder involving the regulation of fibroblast growth factor 23 (FGF23), a phosphaturic agent, clinically showing bowing of the legs, short stature and dentoalveolar abscesses. A 7-year-old boy, with previous hypochondroplasia diagnosis, was referred to our pediatric dentistry clinic presenting short stature, bone deformities and sinus tracts at deciduous teeth apex levels not related with trauma, restorations or dental caries. After deciduous teeth extraction, due to root resorption and mobility, light microscopy exhibited typical hypophosphatemic dentin, and micro-computed tomography revealed tubular clefts and porosities throughout the teeth...
November 30, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/29175271/gnathodiaphyseal-dysplasia-severe-atypical-presentation-with-novel-heterozygous-mutation-of-the-anoctamin-gene-ano5
#17
Ghada A Otaify, Michael P Whyte, Gary S Gottesman, William H McAlister, J Eric Gordon, Abby Hollander, Marisa V Andrews, Samir K El-Mofty, Wei-Shen Chen, Deborah V Novack, Marina Stolina, Albert Woo, Panagiotis Katsonis, Olivier Lichtarge, Fan Zhang, Marwan Shinawi
Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations...
November 21, 2017: Bone
https://www.readbyqxmd.com/read/29162432/renal-damage-in-the-metabolic-syndrome-metsx-disorders-implicated
#18
REVIEW
Trujillo Joyce, Chirino Yolanda Irasema, Martínez-Tagüeña Natalia, Pedraza-Chaverri Jose
The prevalence of metabolic syndrome is increasing worldwide and has become a risk factor for the development of chronic kidney disease. The complex linkage between metabolic syndrome and chronic kidney disease is under research and the factors involved beyond the biological pathogenesis include demographic, sociological and psychological factors that are related to the metabolic syndrome prevalence. The social context of disease causation is as relevant to today's clinical scientist and practitioner as biomarker-directed risk stratification and therapy...
November 18, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#19
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29143140/impact-of-conventional-medical-therapy-on-bone-mineral-density-and-bone-turnover-in-adult-patients-with-x-linked-hypophosphatemia-a-6-year-prospective-cohort-study
#20
Vikram Vinod Shanbhogue, Stinus Hansen, Niklas Rye Jørgensen, Signe Sparre Beck-Nielsen
X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim of this 6-year prospective study was to determine the impact of conventional medical treatment on areal bone mineral density (aBMD), bone turnover markers (BTMs) and measures of calcium homeostasis in 27 adult patients with XLH, 11 of whom received medical treatment...
November 15, 2017: Calcified Tissue International
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