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https://www.readbyqxmd.com/read/29442545/novel-compound-heterozygous-clcnkb-gene-mutations-c-1755a-g-c-848_850deltct-cause-classic-bartter-syndrome
#1
Chunli Wang, Ying Chen, Bixia Zheng, Mengshu Zhu, Jia Fan, Juejin Wang, Zhanjun Jia, Songming Huang, Aihua Zhang
Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c.1755A>G). Compound heterozygosity was confirmed by amplifying and sequencing the patient's genomic DNA. The synonymous mutation c.1755A>G (Thr585Thr) was located at +2bp from the 5' splice donor site in exon 15, further transcript analysis demonstrated that this single nucleotide mutation causes exclusion of exon 15 in the cDNA from the proband and his mother...
February 14, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29442351/milk-alkali-syndrome-mas-as-a-complication-of-the-treatment-of-hypoparathyroidism
#2
Agata Skwarek, Janusz Pachucki, Tomasz Bednarczuk, Zuzanna Żurecka, Michał Popow
Milk-alkali syndrome (MAS), characterized by renal failure, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism. The clinical course is often sudden and is not preceded by any prodromal symptoms. Occurrence does not depend on the duration of hypoparathyroidism treatment, although it is closely related to the applied therapy, especially the dose of calcium carbonate and active vitamin D preparations. Drugs influencing the glomerular filtration rate (angiotensin receptor blockers, sartans, aldosterone receptor antagonists, thiazide diuretics), lack of adequate routine control, changing the calcium carbonate supplementation, dehydration, a diet rich in pH-basic foods (i...
February 14, 2018: Endokrynologia Polska
https://www.readbyqxmd.com/read/29442224/vitamin-c-and-sodium-bicarbonate-enhance-the-antioxidant-ability-of-h9c2-cells-and-induce-hsps-to-relieve-heat-stress
#3
Bin Yin, Shu Tang, Jiarui Sun, Xiaohui Zhang, Jiao Xu, Liangjiao Di, Zhihong Li, Yurong Hu, Endong Bao
Heat stress is exacerbated by global warming and affects human and animal health, leading to heart damage caused by imbalances in reactive oxygen species (ROS) and the antioxidant system, acid-base chemistry, electrolytes and respiratory alkalosis. Vitamin C scavenges excess ROS, and sodium bicarbonate maintains acid-base and electrolyte balance, and alleviates respiratory alkalosis. Herein, we explored the ability of vitamin C alone and in combination with equimolar sodium bicarbonate (Vitamin C-Na) to stimulate endogenous antioxidants and heat shock proteins (HSPs) to relieve heat stress in H9C2 cells...
February 13, 2018: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/29421779/nephropathic-cystinosis-mimicking-bartter-syndrome-a-novel-mutation
#4
Funda Bastug, Hulya Nalcacioglu, Fatih Ozaltin, Emine Korkmaz, Sibel Yel
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome...
January 2018: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29417593/medical-findings-in-1-026-consecutive-adult-inpatient-residential-eating-disordered-patients
#5
Philip S Mehler, Dan V Blalock, Keegan Walden, Simrat Kaur, Jennifer McBride, Kristine Walsh, Jennifer Watts
OBJECTIVE: Eating disorders are associated with multiple medical complications. We report contemporary medical data, for newly admitted adult inpatient and residential level of care patients. METHOD: Medical records of a transdiagnostic sample of 1,026 patients, with eating disorders, were retrospectively reviewed for the presence of a broad array of medical complications at time of admission. The prevalence of physiologically relevant medical complications was assessed across major eating disorder categories...
February 8, 2018: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29403282/two-mutations-in-the-thiazide-sensitive-nacl-co-transporter-gene-in-a-romanian-gitelman-syndrome-patient-case-report
#6
Cristina Gug, Adelina Mihaescu, Ioana Mozos
Background: Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing. Patient and methods: This paper describes the case of a 27-year-old woman admitted with severe hypokalemia, slight hypomagnesemia, hypocalcemia, hypocalciuria, metabolic alkalosis, hyperreninemia, low blood pressure, limb muscle weakness, marked fatigue and palpitations...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29385285/itraconazole-induced-hypertension-and-hypokalemia-mechanistic-evaluation
#7
Wesley J Hoffmann, Ian McHardy, George R Thompson
We describe a case of apparent mineralocorticoid excess (hypertension, hypokalemia, metabolic alkalosis, and low plasma renin activity) secondary to itraconazole therapy. Inhibition of 11β-hydroxysteroid dehydrogenase 2 was demonstrated, and withholding itraconazole led to resolution of adverse effects that did not recur with voriconazole. This report adds to a growing body of evidence linking apparent mineralocorticoid excess with certain triazoles. This article is protected by copyright. All rights reserved...
January 31, 2018: Mycoses
https://www.readbyqxmd.com/read/29378818/carbonic-anhydrase-expression-in-the-branchial-ionocytes-of-rainbow-trout
#8
Michael Brannen, Kathleen M Gilmour
Rainbow trout (Oncorhynchus mykiss) exposed to acid-base challenges activate branchial mechanisms for the excretion of acid-base equivalents. Current models of branchial acid-base excretion in freshwater rainbow trout propose two main ionocyte types; the peanut lectin agglutinin-positive (PNA+) mitochondrion-rich cell or ionocyte is believed to secrete HCO3- in exchange for Cl-, whereas H+ secretion is thought to occur across PNA- ionocytes in exchange for Na+ Both HCO3- and H+ are supplied by intracellular hydration of CO2 catalyzed by cytosolic carbonic anhydrase (CAc)...
January 29, 2018: Journal of Experimental Biology
https://www.readbyqxmd.com/read/29378538/a-novel-compound-heterozygous-variant-of-the-slc12a3-gene-in-gitelman-syndrome-pedigree
#9
Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this study, we report a case of a GS pedigree, including analysis of GS-associated gene mutations. METHODS: We performed next-generation sequencing analysis and Sanger sequencing to explore the SLC12A3 mutations in a GS pedigree that included a 35-year-old female patient with GS and five family members within three generations...
January 29, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29375229/coexistence-of-gitelman-syndrome-and-hypertrophic-cardiomyopathy-in-a-pregnant-woman
#10
Abdullah Nabi Aslan, Serkan Sivri, Murat Can Güney, Telat Keleş Prof
Gitelman syndrome (GS) is transmitted as an autosomal recessive trait and characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The symptoms and severity of the disease can vary greatly from one person to another and can range from mild to severe. Sudden cardiac arrest has been reported occasionally as well. Here, for the first time, we reported a 34-year-old pregnant GS woman who was diagnosed to have hypertrophic obstructive cardiomyopathy during her cardiac examination for the complaints of palpitation and presyncope...
January 2018: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29359573/retrospective-review-of-hydrochloric-acid-infusion-for-the-treatment-of-metabolic-alkalosis-in-surgical-intensive-care-unit-patients
#11
Jason D Guffey, Curtis E Haas, Amber Crowley, Kathryn A Connor, David C Kaufman
BACKGROUND: Older reports of use of hydrochloric acid (HCl) infusions for treatment of metabolic alkalosis document variable dosing strategies and risk. OBJECTIVES: This study sought to characterize use of HCl infusions in surgical intensive care unit patients for the treatment of metabolic alkalosis. METHODS: This retrospective review included patients who received a HCl infusion for >8 hours. The primary end point was to evaluate the utility of common acid-base equations for predicting HCl dose requirements...
January 1, 2018: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/29348282/acquired-pyloric-stenosis-resulting-in-hypokalaemic-hyperchloraemic-normal-anion-gap-metabolic-acidosis-persistent-vomiting-in-an-adult-cause-and-effect
#12
Philip Kaye
A 24-year-old woman presented with a history of persistent vomiting for at least 3 months. This resulted in severe dehydration with risk of acute kidney injury. In addition to volume depletion, loss of gastric fluid resulted in a specific metabolic derangement-hypokalaemic, hypochloraemic normal anion gap metabolic alkalosis with a reduced ionised calcium concentration and paradoxical aciduria. These metabolic changes were reflected in her ECG. Investigation demonstrated acquired gastric outflow tract obstruction secondary to a pyloric peptic ulcer...
January 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29344508/acid-base-and-electrolyte-disorders-in-patients-with-and-without-chronic-kidney-disease-an-update
#13
REVIEW
Tsering Dhondup, Qi Qian
Kidneys play a pivotal role in the maintenance and regulation of acid-base and electrolyte homeostasis, which is the prerequisite for numerous metabolic processes and organ functions in the human body. Chronic kidney diseases compromise the regulatory functions, resulting in alterations in electrolyte and acid-base balance that can be life-threatening. In this review, we discuss the renal regulations of electrolyte and acid-base balance and several common disorders including metabolic acidosis, alkalosis, dysnatremia, dyskalemia, and dysmagnesemia...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29310825/potassium-intake-modulates-the-thiazide-sensitive-sodium-chloride-cotransporter-ncc-activity-via-the-kir4-1-potassium-channel
#14
Ming-Xiao Wang, Catherina A Cuevas, Xiao-Tong Su, Peng Wu, Zhong-Xiuzi Gao, Dao-Hong Lin, James A McCormick, Chao-Ling Yang, Wen-Hui Wang, David H Ellison
Kir4.1 in the distal convoluted tubule plays a key role in sensing plasma potassium and in modulating the thiazide-sensitive sodium-chloride cotransporter (NCC). Here we tested whether dietary potassium intake modulates Kir4.1 and whether this is essential for mediating the effect of potassium diet on NCC. High potassium intake inhibited the basolateral 40 pS potassium channel (a Kir4.1/5.1 heterotetramer) in the distal convoluted tubule, decreased basolateral potassium conductance, and depolarized the distal convoluted tubule membrane in Kcnj10flox/flox mice, herein referred to as control mice...
January 6, 2018: Kidney International
https://www.readbyqxmd.com/read/29307724/the-effect-of-metabolic-alkalosis-on-the-ventilatory-response-in-healthy-subjects
#15
E Oppersma, J Doorduin, J G van der Hoeven, P H Veltink, H W H van Hees, L M A Heunks
BACKGROUND: Patients with acute respiratory failure may develop respiratory acidosis. Metabolic compensation by bicarbonate production or retention results in posthypercapnic alkalosis with an increased arterial bicarbonate concentration. The hypothesis of this study was that elevated plasma bicarbonate levels decrease respiratory drive and minute ventilation. METHODS: In an intervention study in 10 healthy subjects the ventilatory response using a hypercapnic ventilatory response (HCVR) test was assessed, before and after administration of high dose sodium bicarbonate...
January 4, 2018: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29298718/s737f-is-a-new-cftr-mutation-typical-of-patients-originally-from-the-tuscany-region-in-italy
#16
Vito Terlizzi, Antonella Miriam Di Lullo, Marika Comegna, Claudia Centrone, Elisabetta Pelo, Giuseppe Castaldo, Valeria Raia, Cesare Braggion
BACKGROUND: An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype-phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe) CFTR missense variant and evaluated the residual function of CFTR protein on nasal epithelial cells (NEC). METHODS: A retrospective database was performed from individuals homozygous or compound heterozygous for the S737F variant followed in the Cystic Fibrosis (CF) Centre of Florence...
January 3, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29290382/hypothermia-ph-and-postoperative-red-blood-cell-transfusion-in-massively-transfused-adult-cardiac-surgery-patients-a-retrospective-cohort-study
#17
Brittney Williams, Evan Chriss, Jennifer Kaplan, Alexander Cartron, Bradley Taylor, James Gammie, Kenichi Tanaka, Michael Mazzeffi
OBJECTIVE: To determine the relationships between hypothermia and pH at surgery end and postoperative red blood cell (RBC) transfusion in massively transfused adult cardiac surgery patients. DESIGN: Retrospective cohort study. SETTING: Single tertiary care, academic medical center. PARTICIPANTS: A total of 395 adult patients having cardiac surgery with cardiopulmonary bypass who were massively transfused during an 8-year period...
November 24, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29285423/renal-intercalated-cells-and-blood-pressure-regulation
#18
REVIEW
Susan M Wall
Type B and non-A, non-B intercalated cells are found within the connecting tubule and the cortical collecting duct. Of these cell types, type B intercalated cells are known to mediate Cl- absorption and HCO3- secretion largely through pendrin-dependent Cl-/HCO3- exchange. This exchange is stimulated by angiotensin II administration and is also stimulated in models of metabolic alkalosis, for instance after aldosterone or NaHCO3 administration. In some rodent models, pendrin-mediated HCO3- secretion modulates acid-base balance...
December 2017: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/29278670/a-novel-compound-heterozygous-mutation-in-the-cyp17a1-gene-in-a-patient-with-17%C3%AE-hydroxylase-17-20-lyase-deficiency
#19
Mengli Sun, Xiaoqing Yan, Anyun Feng, Xuemei Wu, Enling Ye, Huiying Wu, Xuemian Lu, Hong Yang
PURPOSE: 17α-hydroxylase/17,20-lyase deficiency is a rare disease caused by mutation of the CYP17A1 gene, resulting in hypertension, hypokalemia, alkalosis, female hypogonadism, and male pseudohermaphroditism. Here we report a case of a 15-year-old girl with 17α-hydroxylase/17,20-lyase deficiency, and analyze her clinical and molecular genetic characteristics. PATIENT AND METHODS: A 15-year-old Chinese girl had fever, fatigue, high blood pressure, and blood potassium level being significantly lower than normal...
November 2017: Discovery Medicine
https://www.readbyqxmd.com/read/29229831/clinical-genetic-and-structural-basis-of-apparent-mineralocorticoid-excess-due-to-11%C3%AE-hydroxysteroid-dehydrogenase-type-2-deficiency
#20
Mabel Yau, Shozeb Haider, Ahmed Khattab, Chen Ling, Mehr Mathew, Samir Zaidi, Madison Bloch, Monica Patel, Sinead Ewert, Wafa Abdullah, Aysenur Toygar, Vitalii Mudryi, Maryam Al Badi, Mouch Alzubdi, Robert C Wilson, Hanan Said Al Azkawi, Hatice Nur Ozdemir, Wahid Abu-Amer, Jozef Hertecant, Maryam Razzaghy-Azar, John W Funder, Aisha Al Senani, Li Sun, Se-Min Kim, Tony Yuen, Mone Zaidi, Maria I New
Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the HSD11B2 gene result either in severe AME or a milder phenotype (type 2 AME). To date, ∼40 causative mutations have been identified. As part of the International Consortium for Rare Steroid Disorders, we have diagnosed and followed the largest single worldwide cohort of 36 AME patients...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
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