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https://www.readbyqxmd.com/read/28727343/-hypophosphatasia
#1
Eleni Tsiantouli, Andrea Trombetti, Serge Ferrari
Hypophosphatasia (HPP) is an inborn metabolic bone disorder caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). The adult form can be mistaken with common osteoporosis and/or present recurrent metatarsal fractures, skeletal and muscular pain. Subtrochanteric femoral pseudofractures resembling bisphosphonate-associated atypical femoral fractures can also be present, and Bps are therefore contraindicated in HPP. Early tooth loss and renal calcifications can orient towards the diagnosis...
April 19, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28726774/interleukin-22-ameliorated-renal-injury-and-fibrosis-in-diabetic-nephropathy-through-inhibition-of-nlrp3-inflammasome-activation
#2
Shaofei Wang, Yubin Li, Jiajun Fan, Xuyao Zhang, Jingyun Luan, Qi Bian, Tao Ding, Yichen Wang, Ziyu Wang, Ping Song, Daxiang Cui, Xiaobin Mei, Dianwen Ju
Diabetic nephropathy (DN) is one of the most lethal complications of diabetes mellitus with metabolic disorders and chronic inflammation. Although the cytokine IL-22 was initially implicated in the pathogenesis of chronic inflammatory diseases, recent studies suggested that IL-22 could suppress inflammatory responses and alleviate tissue injury. Herein, we examined the role of IL-22 in DN. We found that serum levels of IL-22 were significantly downregulated in both patients and mice with DN. The expression of IL-22 was further decreased with the progression of DN, whereas IL-22 gene therapy significantly ameliorated renal injury and mesangial matrix expansion in mice with established nephropathy...
July 20, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28700181/-hyperuricemia-and-gene-mutations-a-case-report
#3
Fabio Tattoli, Daniela Falconi, Ornella De Prisco, Gherzi Maurizio, Federico Marazzi, Marita Marengo, Ilaria Serra, Michela Tamagnone, Luca Cordero di Montezemolo, Barbara Pasini, Marco Formica
Hyperuricemia is frequently found in nephrology. The case presented may be useful to clarify some pathogenetic aspects. It is a patient of 18 years, hyperuricaemic. Non-consanguineous parents, hyperuricemia in the paternal line, not neuropsychiatric disorders in the family. Delay in neuromotor acquisitions, average intellectual disabilities, anxiety disorder, obsessive-compulsive personality traits. Normal renal function and renal ultrasound. Evidence of hyperuricemia in 2015. Never gouty episodes and / or lithiasis, initiated allopurinol 100 mg on alternate days, with no side effects, urea in the control range, slightly below normal uricuria...
June 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
#4
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/28649566/-68-ga-188-re-complexed-cdtmp-trans-1-2-cyclohexyldinitrilotetraphosphonic-acid-as-a-theranostic-agent-for-skeletal-metastases
#5
Ambika P Jaswal, Virendra K Meena, Surbhi Prakash, Ankita Pandey, Baljinder Singh, Anil K Mishra, Puja P Hazari
OBJECTIVE: Metastasis of the osseous tissue is one of the frequent and severe aggravations as a result of several neoplastic conditions, such as metabolic disorders, infections, and cancer. The objective of this study was to evaluate the pertinence of [(68)Ga]-trans-1,2-cyclohexyldinitrilo tetramethylene phosphonic acid (CDTMP) as a potential bone imaging agent for positron emission tomography (PET) applications as well as to assess [(188)Re]-CDTMP for bone pain palliation in metastatic skeletal disorders...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28648509/pendred-syndrome
#6
REVIEW
Jean-Louis Wémeau, Peter Kopp
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28633927/dencichine-ameliorates-kidney-injury-in-induced-type-ii-diabetic-nephropathy-via-the-tgf-%C3%AE-smad-signalling-pathway
#7
Li Jie, Qiu Pengcheng, He Qiaoyan, Bi Linlin, Zhang Meng, Wang Fang, Jia Min, Yan Li, Zhang Ya, Yang Qian, Wang Siwang
Diabetic nephropathy (DN), a common complication associated with both type I and type II diabetes mellitus (DM), is a major cause of chronic nephropathy and a common cause of end-stage renal diseases (ESRD) throughout the world. This study is aimed to determine whether dencichine (De) can ameliorate renal damage in high-glucose-and-fat diet combined STZ (streptozocin) induced DN in type II DM rats and to investigate the potential underlying mechanisms. Markers of metabolism, diabetes, and renal function, and levels of extracellular matrix (ECM) collagen I (Col I), collagen IV (Col IV), fibronectin (FN) and laminin (LN), and of proteins in the TGF-β/Smad pathway were analysed through RT-PCR, western blot, immunofluorescence and immunohistochemistry...
June 17, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28628361/lipocalin-2-an-emerging-player-in-iron-homeostasis-and-inflammation
#8
Xia Xiao, Beng San Yeoh, Matam Vijay-Kumar
Lipocalin 2 (Lcn2), an innate immune protein, has emerged as a critical iron regulatory protein during physiological and inflammatory conditions. As a bacteriostatic factor, Lcn2 obstructs the siderophore iron-acquiring strategy of bacteria and thus inhibits bacterial growth. As part of host nutritional immunity, Lcn2 facilitates systemic, cellular, and mucosal hypoferremia during inflammation, in addition to stabilizing the siderophore-bound labile iron pool. In this review, we summarize recent advances in understanding the interaction between Lcn2 and iron, and its effects in various inflammatory diseases...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28628255/still-a-reasonable-goal-targeting-cholesterol-in-dialysis-and-advanced-chronic-kidney-disease-patients
#9
EDITORIAL
Gunnar H Heine, Kyrill S Rogacev, Oliver Weingärtner, Gunther Marsche
Chronic kidney disease (CKD) patients have a high burden of cardiovascular disease. In the general population, lipid metabolism disorders, which cause the initiation and progression of atherosclerotic vascular changes, are major targets for preventive and therapeutic strategies in cardiovascular medicine. However, data from large cohort studies and from clinical trials suggest that the treatment guidelines on cardiovascular disease prevention and therapy cannot uncritically be transferred from individuals with intact renal function to CKD patients...
June 19, 2017: Seminars in Dialysis
https://www.readbyqxmd.com/read/28622013/acetazolamide-use-in-severe-chronic-obstructive-pulmonary-disease-pros-and-cons
#10
Rosemary Adamson, Erik R Swenson
Acetazolamide is a carbonic anhydrase (CA) inhibitor sometimes used as a respiratory stimulant for patients with chronic obstructive pulmonary disease (COPD) with the goal of improving oxygenation, reducing carbon dioxide retention, and aiding liberation from mechanical ventilation and/or attempting to correct a metabolic alkalosis. However, the net effect of CA inhibition is multifactorial and complex, because CA is inhibited in many tissues that may negatively affect the patient with lung disease. The full impact of acetazolamide and other CA inhibitors depends critically on dosing, age, and pulmonary, renal, hepatic, hematological, and respiratory muscle function and reserves...
July 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28620355/role-of-the-vasopressin-apelin-balance-and-potential-use-of-metabolically-stable-apelin-analogs-in-water-metabolism-disorders
#11
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/28615894/unknown-patients-and-neurology-casualty-services-in-an-indian-metropolitan-city-a-decades-experience
#12
Achary Umesh, Guru S Gowda, Channaveerachari Naveen Kumar, Dwarakanath Srinivas, Bharath Rose Dawn, Ragasudha Botta, Ravi Yadav, Suresh Bada Math
OBJECTIVES: A large number of unknown patients without any personal, family, or other identification details represent a unique problem in the neurological emergency services of developing countries like India in a context of legal, humanitarian, and treatment issues. These patients pose a diagnostic and management challenge to treating physicians and staff. There are sparse data on these patients. The objective of this study was to know the clinical, socio-demographic, and investigational profile of "unknown" patients...
April 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28606713/rhabdomyolysis-and-coeliac-disease-a-causal-or-casual-association-a-case-report-and-review-of-literature
#13
Claudia Mandato, Alessandro Rossi, Mariano Caldore, Marta Lamba, Michele Rocco, Renata Auricchio, Pietro Vajro, Paolo Siani
BACKGROUND: Rhabdomyolysis is a rare, potentially life-threatening condition, caused by multiple disorders. The association with Coeliac Disease (CD) has been rarely reported and in these cases muscular damage was imputed to hypokalemia. Herein we describe a new case of severe rhabdomyolysis in a child subsequently diagnosed as affected by CD, and review previous reports. CASE PRESENTATION: A 3-year-old boy was referred for diarrhea, brown urine, muscular pain/weakness, and no history of muscular trauma...
June 9, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28603219/central-hemodynamics-for-management-of-arteriosclerotic-diseases
#14
Junichiro Hashimoto
Arteriosclerosis, particularly aortosclerosis, is the most critical risk factor associated with cardiovascular, cerebrovascular, and renal diseases. The pulsatile hemodynamics in the central aorta consists of blood pressure, flow, and stiffness and substantially differs from the peripheral hemodynamics in muscular arteries. Arteriosclerotic changes with age appear earlier in the elastic aorta, and age-dependent increases in central pulse pressure are more marked than those apparent from brachial pressure measurement...
June 10, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28596512/paricalcitol-as-an-antiproteinuric-agent-can-result-in-the-deterioration-of-renal-and-heart-function-in-a-patient-with-fabry-disease
#15
Tajda Keber, Martin Tretjak, Andreja Cokan Vujkovac, Marija Mravljak, Katja Ravber, Bojan Vujkovac
BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity. Among its other associated signs and symptoms, patients present with renal failure and proteinuria, which are markers of disease progression. Renin-angiotensin-aldosterone system (RAAS) blockers can slow the progression of chronic renal failure and proteinuria. In fact, some studies have shown the beneficial effects of paricalcitol on proteinuria...
June 9, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28493902/circulating-levels-of-sclerostin-but-not-dkk1-associate-with-laboratory-parameters-of-ckd-mbd
#16
Geert J Behets, Liesbeth Viaene, Björn Meijers, Frank Blocki, Vincent M Brandenburg, Anja Verhulst, Patrick C D'Haese, Pieter Evenepoel
INTRODUCTION: Mounting evidence indicates that a disturbed Wnt-β-catenin signaling may be involved in the pathogenesis of chronic kidney disease-mineral and bone and mineral disorder (CKD-MBD). Data on the impact of CKD on circulating levels of the Wnt antagonists sclerostin and Dickkopf related protein 1 (DKK1) and the relationship with laboratory parameters of CKD-MBD are incomplete. METHODS: We analyzed serum sclerostin and DKK1 in 308 patients across the stages of chronic kidney disease (kDOQI stage 1-2 n = 41; CKD stage 3 n = 54; CKD stage 4-5 n = 54; hemodialysis n = 100; peritoneal dialysis n = 59) as well as in 49 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28487070/noncoding-rna-and-epigenetic-gene-regulation-in-renal-diseases
#17
REVIEW
Satya K Kota, Savithri B Kota
Kidneys have a major role in normal physiology and metabolic homeostasis. Loss or impairment of kidney function is a common occurrence in several metabolic disorders, including hypertension and diabetes. Chronic kidney disease (CKD) affect nearly 10% of the population worldwide; ranks 18th in the list of causes of death; and contributes to a significant proportion of healthcare costs. The tissue repair and regenerative potential of kidneys are limited and they decline during aging. Recent studies have demonstrated a key role for epigenetic processes and players, such as DNA methylation, histone modifications, noncoding (nc)RNA, and so on, in both kidney development and disease...
May 6, 2017: Drug Discovery Today
https://www.readbyqxmd.com/read/28480485/long-term-lithium-treatment-in-bipolar-disorder-effects-on-glomerular-filtration-rate-and-other-metabolic-parameters
#18
Leonardo Tondo, Maria Abramowicz, Martin Alda, Michael Bauer, Alberto Bocchetta, Lorenza Bolzani, Cynthia V Calkin, Caterina Chillotti, Diego Hidalgo-Mazzei, Mirko Manchia, Bruno Müller-Oerlinghausen, Andrea Murru, Giulio Perugi, Marco Pinna, Giuseppe Quaranta, Daniela Reginaldi, Andreas Reif, Philipp Ritter, Janusz K Rybakowski, David Saiger, Gabriele Sani, Valerio Selle, Thomas Stamm, Gustavo H Vázquez, Julia Veeh, Eduard Vieta, Ross J Baldessarini
BACKGROUND: Concerns about potential adverse effects of long-term exposure to lithium as a mood-stabilizing treatment notably include altered renal function. However, the incidence of severe renal dysfunction; rate of decline over time; effects of lithium dose, serum concentration, and duration of treatment; relative effects of lithium exposure vs. aging; and contributions of sex and other factors all remain unclear. METHODS: Accordingly, we acquired data from 12 collaborating international sites and 312 bipolar disorder patients (6142 person-years, 2669 assays) treated with lithium carbonate for 8-48 (mean 18) years and aged 20-89 (mean 56) years...
December 2017: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#19
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/28465704/huang-gan-formula-eliminates-the-oxidative-stress-effects-of-advanced-oxidation-protein-products-on-the-divergent-regulation-of-the-expression-of-ages-receptors-via-the-jak2-stat3-pathway
#20
Quanwen Deng, Can Bu, Liqian Mo, Bin Lv, Shaolian Song, Xiaoyan Xiao, Guo Dan, Xixiao Yang
Chronic kidney disease (CKD) has a high prevalence and low cure rate and represents a significant health issue. Oxidative stress is common in CKD due to metabolic disorders, inflammation, and impaired renal function changing normal proteins into advanced oxidation protein products (AOPPs). Huang Gan formula (HGF) is a new type of traditional Chinese herbal medicine. Although we previously investigated the protective effects of HGF against oxidative stress, the mechanism of HGF in CKD is still not fully understood...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
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