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https://www.readbyqxmd.com/read/28342684/persistent-pulmonary-hypertension-of-the-newborn
#1
REVIEW
Mamta Fuloria, Judy L Aschner
Failure of the normal circulatory adaptation to extrauterine life results in persistent pulmonary hypertension of the newborn (PPHN). Although this condition is most often secondary to parenchymal lung disease or lung hypoplasia, it may also be idiopathic. PPHN is characterized by elevated pulmonary vascular resistance with resultant right-to-left shunting of blood and hypoxemia. Although the preliminary diagnosis of PPHN is often based on differential cyanosis and labile hypoxemia, the diagnosis is confirmed by echocardiography...
March 23, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28327689/unusual-case-of-failure-to-thrive-type-iii-bartter-syndrome
#2
S Agrawal, K Subedi, P Ray, A Rayamajhi
Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive...
September 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28325561/a-new-slc12a3-founder-mutation-p-val647met-in-gitelman-s-syndrome-patients-of-roma-ancestry
#3
Helena Gil-Peña, Eliecer Coto, Fernando Santos, Mar Espino, Jose Mª Cea Crespo, Giannis Chantzopoulos, Filadelfia Komianou, Juan Gómez, Belén Alonso, Sara Iglesias, Cyrielle Treard, Rosa Vargas-Poussou
BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are homozygous for an SLC12A3 intron 9 frameshifting mutation (c.1180+1G>T). Some forms of Bartter's syndrome result from mutations in the CLNCKB gene and clinically overlap with GS. OBJECTIVES: To characterize a second SLC12A3 mutation in Roma patients negative for the intron 9 variant...
March 18, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28302238/gitelman-syndrome
#4
Qurat Ul Ain Mustafa, Zujaja Hina Haroon, Aamir Ijaz, Muhammad Tanveer Sajid, Muhammad Ayyub
Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt craving, increased thirst and frequent micturition hampering his routine daily activities. Laboratory workup revealed serum potassium, 2.7 mmol/L, serum magnesium, 0...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28296160/changes-in-serum-bicarbonate-levels-caused-by-acetate-containing-bicarbonate-buffered-hemodialysis-solution-an-observational-prospective-cohort-study
#5
Mandip Panesar, Neal Shah, Sarosh Vaqar, Kaushik Ivaturi, Gregory Gudleski, Mary Muscarella, Judy Lambert, Winnie Su, Brian Murray
Fresenius Medical Care's NaturaLyte dialysate has been associated with increased risk of sudden cardiac death by causing metabolic alkalosis from its acetate content based on retrospective data using pre-dialysis bicarbonate levels only. The study objective was to measure inter/intra-dialytic changes in serum bicarbonate and degree of alkalosis conferred by varying concentrations of NaturaLyte bicarbonate dialysate. Thirty-nine hemodialysis patients were divided into four groups based on prescribed bicarbonate dialysate concentrations; Group 1 (N = 9): 30-32 mEq/L, Group 2 (N = 5): 33-34 mEq/L, Group 3 (N = 10): 35-36 mEq/L, Group 4 (N = 15): 37-40 mEq/L...
March 13, 2017: Therapeutic Apheresis and Dialysis
https://www.readbyqxmd.com/read/28289910/acid-base-disturbances-in-nephrotic-syndrome-analysis-using-the-co2-hco3-method-traditional-boston-model-and-the-physicochemical-method-stewart-model
#6
Tomomichi Kasagi, Hirokazu Imai, Naoto Miura, Keisuke Suzuki, Masabumi Yoshino, Hironobu Nobata, Takuhito Nagai, Shogo Banno
BACKGROUND: The Stewart model for analyzing acid-base disturbances emphasizes serum albumin levels, which are ignored in the traditional Boston model. We compared data derived using the Stewart model to those using the Boston model in patients with nephrotic syndrome. METHODS: Twenty-nine patients with nephrotic syndrome and six patients without urinary protein or acid-base disturbances provided blood and urine samples for analysis that included routine biochemical and arterial blood gas tests, plasma renin activity, and aldosterone...
March 13, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28288174/poor-phenotype-genotype-association-in-a-large-series-of-patients-with-type-iii-bartter-syndrome
#7
Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, Gema Ariceta
INTRODUCTION: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS...
2017: PloS One
https://www.readbyqxmd.com/read/28286047/effects-of-early-administration-of-acetazolamide-on-the-duration-of-mechanical-ventilation-in-patients-with-chronic-obstructive-pulmonary-disease-or-obesity-hypoventilation-syndrome-with-metabolic-alkalosis-a-randomized-trial
#8
G Rialp Cervera, J M Raurich Puigdevall, I Morán Chorro, M C Martín Delgado, G Heras la Calle, A Mas Serra, I Vallverdú Perapoch
BACKGROUND: Metabolic alkalosis (MA) inhibits respiratory drive and may delay weaning from mechanical ventilation (MV). MA is common in CO2-retainer patients that need MV. Acetazolamide (ACTZ) decreases serum bicarbonate concentration and stimulates respiratory drive. This study evaluated the effects of ACTZ on the duration of MV in patients with MA and COPD or obesity hypoventilation syndrome (OHS) intubated with acute respiratory failure. METHODS: Multicenter, randomized, controlled, double-blind study, with COPD or OHS patients with MV < 72 h and initial bicarbonate >28 mmol/L and pH > 7...
March 7, 2017: Pulmonary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28263087/protein-losing-enteropathy-in-an-infant-with-rotavirus-infection
#9
Adriana Parisi, Alessandro Cafarotti, Roberta Salvatore, Piernicola Pelliccia, Luciana Breda, Francesco Chiarelli
Protein-losing enteropathy (PLE) is a rare gastro-intestinal complication characterised by intestinal loss of proteins with consequent hypoproteinaemia and generalised oedema. Rotavirus infection associated with PLE in children has rarely been reported. A 6-month-old girl presented with diarrhoea, fever and generalised oedema. Total serum proteins were 34 g/L (61-79) and plasma albumin 16.8 g/L (40-50), serum sodium was 126 mmol/L and there was mild metabolic alkalosis (pH 7.46). Stool for alpha-1 antitrypsin was >1...
March 6, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28236585/the-importance-of-genetic-counseling-and-genetic-screening-a-case-report-of-a-16-year-old-boy-with-resistant-hypertension-and-severe-hypokalemia
#10
Ze-Min Kuang, Ying Wang, Jia-Jie Wang, Jing-Hua Liu, Rong Zeng, Qi Zhou, Zhen-Qiu Yu, Long Jiang
Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel blockers but not spironolactone therapy. Here, we describe the case of a 16-year-old boy patient with resistant hypertension (maintain 170-180/100-110 mm Hg after administration four kinds of antiypertensive drugs) and severe hypokalemia...
February 3, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28210501/perioperative-concerns-for-profound-metabolic-alkalosis-during-kidney-transplantation-a-case-report
#11
Jung Ju Choi, Yong Beom Kim, Hong Soon Kim, Kyung Cheon Lee, Youn Yi Jo
INTRODUCTION: Profound metabolic alkalosis is an uncommon consideration for the anesthetic management of kidney transplantation. Serum total carbon dioxide content and complex electrolyte abnormalities might be important diagnostic clues for the presence of metabolic alkalosis in the absence of arterial blood gas analysis. CASE PRESENTATION: A 34-year-old female visited Gachon University Gil Medical Center, Incheon, South Korea during year 2015. She experienced aggravated renal function due to chronic hypokalemia and severe hypochloremic metabolic alkalosis, induced by laxative abuse, and underwent ABO incompatible kidney transplantation...
November 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28197045/experiences-with-continuous-venovenous-hemofiltration-using-18mmol-l-predilution-citrate-anticoagulation-and-a-phosphate-containing-replacement-solution
#12
Yuen Henry Jeffrey, Shum Hoi-Ping, Anne Leung Kit Hung, Lam Chung-Ling, Yan Wing-Wa, Lai King-Yiu
CONTEXT: Regional citrate anticoagulation for continuous renal replacement therapy is associated with a longer filter-life, less bleeding events and improved mortality. Problems associated with using Prismocitrate 10/2 solution in continuous renal replacement therapy, include hypomagnesemia, hypophosphatemia and the need for additional bicarbonate infusion. AIMS: This study uses the new Prismocitrate 18/0 solution for improved buffer balance and Phoxilium solution for a more favourable electrolyte profile...
January 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28157801/acetazolamide-in-metabolic-alkalosis-cosmetic-or-therapy
#13
Jacopo Colombo, Daniela Codazzi
No abstract text is available yet for this article.
February 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28135216/effects-of-hyperventilation-on-repeated-pedaling-sprint-performance-short-vs-long-intervention-duration
#14
Akihiro Sakamoto, Hisashi Naito, Chin-Moi Chow
Previously, hyperventilation (HV) induced respiratory alkalosis, implemented during the last 30-s of each 60-s recovery that separated repeated pedaling sprints, has been shown to attenuate performance decrement. The present study investigated whether the ergogenic effects of HV would hold if the HV duration was shortened or extended. Seventeen power-trained athletes performed 10-s × 10 sets of standing pedaling sprints on a cycle ergometer, with 60-s inter-set recovery and the load (kp) set at 0.075 × body mass, under three breathing conditions: control, HV of 15-s (HVshort), and HV of 45-s (HVlong)...
January 20, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#15
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28122260/out-of-warburg-effect-an-effective-cancer-treatment-targeting-the-tumor-specific-metabolism-and-dysregulated-ph
#16
REVIEW
Laurent Schwartz, Thomas Seyfried, Khalid O Alfarouk, Jorgelindo Da Veiga Moreira, Stefano Fais
As stated by Otto Warburg nearly a century ago, cancer is a metabolic disease, a fermentation caused by malfunctioning mitochondria, resulting in increased anabolism and decreased catabolism. Treatment should, therefore, aim at restoring the energy yield. To decrease anabolism, glucose uptake should be reduced (ketogenic diet). To increase catabolism, the oxidative phosphorylation should be restored. Treatment with a combination of α-lipoic acid and hydroxycitrate has been shown to be effective in multiple animal models...
January 22, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28102935/ectopic-cushing-syndrome-in-small-cell-lung-cancer-a-case-report-and-literature-review
#17
Hang-Yu Zhang, Jun Zhao
Small cell lung cancer (SCLC) is a neuroendocrine tumor with the potential to secrete various peptides or hormones that can lead to paraneoplastic syndromes, such as Ectopic Cushing syndrome (ECS). Because of the aggressive nature of the syndrome and its atypical features, ECS in small-cell lung cancer is difficult to diagnose and has a poor prognosis. We report a case of a 74-year-old male patient who presented with severe hypokalemia, proximal muscle weakness, peripheral edema, metabolic alkalosis, and worsening hyperglycemia...
March 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#18
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Sequeira, Benjamin Fass, Pisit Pitukcheewanont
Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28069910/primary-aldosteronism-not-just-about-potassium-and-blood-pressure
#19
T H Toh, C V Tong, H C Chong
No abstract text is available yet for this article.
January 9, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28050008/hypokalemic-paralysis-complicated-by-concurrent-hyperthyroidism-and-hyperaldosternoism-a-case-report
#20
Yu-Hsin Hsiao, Yu-Wei Fang, Jyh-Gang Leu, Ming-Hsein Tsai
BACKGROUND Thyrotoxic periodic paralysis (TPP) is commonly observed in patients with acute paralysis and hyperthyroidism. However, there is a possibility of secondary causes of hypokalemia in such a setting. CASE REPORT Herein, we present the case of a 38-year-old woman with untreated hypertension and hyperthyroidism. She presented with muscle weakness, nausea, vomiting, and diarrhea since one week. The initial diagnosis was TPP. However, biochemistry tests showed hypokalemia with metabolic alkalosis and renal potassium wasting...
January 4, 2017: American Journal of Case Reports
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