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https://www.readbyqxmd.com/read/29906034/schmidt%C3%A2-s-syndrome-a-difficult-diagnosis-in-the-latin-american-context
#1
Claudia Barreda-Velit, Rodrigo Salcedo-Pereda, Jesús Ticona
Background: Schmidt’s syndrome, also known as poliglandular autoimmune syndrome type 2, is a rare disease that has a prevalence between 1.5-4.5 cases per 100 000 inhabitants. The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune endocrinological conditions. The aim of this paper is to describe a case of Schmidt’s syndrome in the peruvian context and to analyze the difficulties in the diagnosis. Clinical case: We present the case of a 43-year-old woman that presents to the emergency room with headache, nausea, vomits and a “syncope episode”...
March 2018: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29900164/bartter-syndrome-type-3-phenotype-genotype-correlation-and-favorable-response-to-ibuprofen
#2
Xuejun Yang, Gaofu Zhang, Mo Wang, Haiping Yang, Qiu Li
Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children. Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the prognosis was compared after a 6-year follow-up or 2-year follow-up, respectively. Results: Bartter syndrome is a kind of autosomal recessive inherited renal disorder. The manifestation and prognosis of Bartter syndrome change with mutation types, and severe mutation were often accompanied with unfavorable prognosis...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29885083/dialysate-bicarbonate-concentration-too-much-of-a-good-thing
#3
Carlo Basile, Luigi Rossi, Carlo Lomonte
Acid-base equilibrium is a complex and vital system whose regulation is impaired in chronic kidney disease (CKD). Metabolic acidosis is a common complication of CKD. It is typically due to the accumulation of sulfate, phosphorus, and organic anions. Metabolic acidosis is correlated with several adverse outcomes, such as morbidity, hospitalization and mortality. In patients undergoing hemodialysis, acid-base homeostasis depends on many factors: net acid production, amount of alkali given by the dialysate bath, duration of interdialytic period, as well as residual diuresis, if any...
June 8, 2018: Seminars in Dialysis
https://www.readbyqxmd.com/read/29871959/differential-diagnosis-for-chronic-hypokalaemia
#4
Laura Stimson, Tim Reynolds
Doctors will often see patients with chronic hypokalaemia, frequently this is secondary to gastrointestinal losses, diuretics or renal disease. However, in this case report we review a rarer cause of chronic hypokalaemia-Gitelman syndrome (GS).GS is an uncommon genetic disorder which causes primary renal tubular hypokalaemic metabolic alkalosis with secondary hypomagnesaemia and hypocalciuria. Although rare, it is important to remember GS when considering differential diagnoses for chronic hypokalaemia. We report the case of a woman who presented to the ophthalmology department with sclerochoroidal calcification...
June 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29868599/time-to-optimize-supplementation-modifying-factors-influencing-the-individual-responses-to-extracellular-buffering-agents
#5
REVIEW
André B Heibel, Pedro H L Perim, Luana F Oliveira, Lars R McNaughton, Bryan Saunders
Blood alkalosis, as indicated by an increased blood bicarbonate concentration and pH, has been shown to be beneficial for exercise performance. Sodium bicarbonate, sodium citrate, and sodium or calcium lactate, can all result in increased circulating bicarbonate and have all independently been shown to improve exercise capacity and performance under various circumstances. Although there is considerable evidence demonstrating the efficacy of these supplements in several sports-specific situations, it is commonly acknowledged that their efficacy is equivocal, due to contrasting evidence...
2018: Frontiers in Nutrition
https://www.readbyqxmd.com/read/29850456/good-tolerance-of-citrate-accumulation-due-to-plasma-exchange-among-patients-with-acute-on-chronic-liver-failure-a-prospective-observational-study
#6
Yuanji Ma, Yan Xu, Fang Chen, Ying Wang, Lang Bai, Hong Tang
Aim: To assess the tolerance of citrate accumulation due to plasma exchange (PE) among patients with acute-on-chronic liver failure (ACLF). Methods: A prospective, observational study was conducted among patients with ACLF who received heparin anticoagulation during PE-centered therapy without filtration and dialysis. Citrate accumulation was defined as the value of total calcium (Catot ) to ionized calcium (Caion ) ratio (Catot /Caion ) greater than or equal to 2...
2018: Canadian Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29846113/mechanistic-target-of-rapamycin-mtor-integrating-growth-factor-and-nutrient-signaling-in-the-collecting-duct
#7
Aaron Brown, Maurice B Fluitt, Carolyn M Ecelbarger
The renal collecting duct and other post-macula densa sites are the primary tubular regions for fine-tuning of electrolyte homeostasis in the body. A role for the mechanistic target of rapamycin (mTOR), a serine-threonine kinase, has recently been appreciated as playing a central role in this regulation. mTOR exists in two distinct multi-protein functional complexes, i.e., mTORC1 and mTORC2. Upregulation of mTORC1, by growth factors and amino acids, is associated with cell cycle regulation and hypertrophic changes in the cell...
May 30, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29792170/liddle-s-like-syndrome-associated-with-nephrotic-syndrome-secondary-to-membranous-nephropathy-the-first-case-report
#8
Eriko Yamaguchi, Kazuhiro Yoshikawa, Izaya Nakaya, Karen Kato, Yoshikazu Miyasato, Terumasa Nakagawa, Yutaka Kakizoe, Masashi Mukoyama, Jun Soma
BACKGROUND: Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syndrome present with early onset of hypertension, hypokalemia, metabolic alkalosis, hyporeninemia and hypoaldosteronism, and a potassium-sparing diuretics (triamterene or amiloride) can drastically improves the disease condition. Although elderly patients having these characteristics were considered to have Liddle's syndrome or Liddle's-like syndrome, no previous report has indicated that Liddle's-like syndrome could be caused by nephrotic syndrome of primary glomerular disease, which is characterized by urinary excretion of > 3 g of protein/day plus edema and hypoalbuminemia, or has explained how the activity function of ENaC could be affected in the setting of high proteinuria...
May 23, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29727526/incidence-of-hypochloremic-metabolic-alkalosis-in-dogs-and-cats-with-and-without-nasogastric-tubes-over-a-period-of-up-to-36-hours-in-the-intensive-care-unit
#9
Annie Chih, Elke Rudloff, Cheryl Waldner, Andrew K J Linklater
OBJECTIVE: To evaluate the incidence of hypochloremic metabolic alkalosis (HCMA) in dogs and cats in the ICU that had intermittent nasogastric tube (NGT) aspiration for up to 36 hours. DESIGN: Prospective cohort study (December 2013 to October 2014). SETTING: Privately owned emergency and referral teaching hospital. ANIMALS: Forty-nine client-owned dogs and 16 client-owned cats. INTERVENTIONS: Patients wherein NGT placement was recommended and client consent was obtained were included in the interventional group...
May 2018: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/29720912/use-of-arginine-hydrochloride-in-the-treatment-of-metabolic-alkalosis-or-hypochloremia-in-pediatric-patients
#10
Caroline M Sierra, Elvin A Hernandez, Kristine A Parbuoni
OBJECTIVES: Dosing of arginine for treatment of hypochloremia or metabolic alkalosis is laborious and has inherent variability in dose selection. The primary objective of this study was to determine the efficacy of arginine in the treatment of metabolic alkalosis and hypochloremia. Secondary objectives were to determine an optimal dose, route, and frequency for arginine administration in the treatment of these conditions. METHODS: This single center, retrospective, descriptive study was conducted in children who received arginine for treatment of hypochloremia or metabolic alkalosis...
March 2018: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/29703920/prevalent-metabolic-derangement-and-severe-thrombocytopenia-in-abo-incompatible-liver-recipients-with-pre-transplant-plasma-exchange
#11
Hye-Mee Kwon, In-Gu Jun, JungBok Lee, Young-Jin Moon, Kyeo-Woon Jung, Hye-Won Jeong, Yong-Seok Park, Jun-Gol Song, Gyu-Sam Hwang
Desensitisation with therapeutic plasma exchange (TPE) is essential for ABO-incompatible (ABO-I) liver transplants (LTs). However, excessive citrate load and coagulation disturbances after TPE have been poorly studied, in particular in cirrhotic patients with hypocapnic alkalosis, metabolic compensation and electrolyte imbalances. We retrospectively evaluated 1123 consecutive LT recipients (923 ABO-compatible [ABO-C], 200 ABO-I) from November 2008 to May 2015. TPE was generally performed a day before LT and blood sampling was performed before anaesthesia induction...
April 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29675709/acid-base-status-and-its-clinical-implications-in-critically-ill-patients-with-cirrhosis-acute-on-chronic-liver-failure-and-without-liver-disease
#12
Andreas Drolz, Thomas Horvatits, Kevin Roedl, Karoline Rutter, Richard Brunner, Christian Zauner, Peter Schellongowski, Gottfried Heinz, Georg-Christian Funk, Michael Trauner, Bruno Schneeweiss, Valentin Fuhrmann
BACKGROUND: Acid-base disturbances are frequently observed in critically ill patients at the intensive care unit. To our knowledge, the acid-base profile of patients with acute-on-chronic liver failure (ACLF) has not been evaluated and compared to critically ill patients without acute or chronic liver disease. RESULTS: One hundred and seventy-eight critically ill patients with liver cirrhosis were compared to 178 matched controls in this post hoc analysis of prospectively collected data...
April 19, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29649820/accuracy-of-acid-base-diagnoses-using-the-central-venous-blood-gas-in-the-medical-intensive-care-unit
#13
Sarah J Schrauben, Dan Negoianu, Cristiana Costa, Raphael M Cohen, Stanley Goldfarb, Barry D Fuchs, Jeffrey S Berns
BACKGROUND: Acid-base disturbances are frequent in critically ill patients. Arterial blood gas (ABG) is the gold standard in the diagnosis of these disturbances, but it is invasive with potential hazards. For patients with a central venous catheter, venous blood gas (VBG) sampling may be an alternative, less-invasive diagnostic tool. However, the accuracy of a central VBG-based acid-base disorder diagnosis compared to an ABG is unknown. The primary objective of this study was to assess the accuracy of a central VBG-based acid-base disorder diagnosis compared to the "gold standard" ABG in critically ill patients...
April 12, 2018: Nephron
https://www.readbyqxmd.com/read/29621262/rescue-of-hyperexcitability-in-hippocampal-ca1-neurons-from-mecp2-y-mouse-through-surface-potential-neutralization
#14
Saju Balakrishnan, Sergej L Mironov
Hyperventilation is a known feature of Rett syndrome (RTT). However, how hyperventilation is related to other RTT symptoms such as hyperexcitability is unknown. Intense breathing during hyperventilation induces hypocapnia and culminates in respiratory alkalosis. Alkalinization of extracellular milieu can trigger epilepsy in patients who already have neuronal hyperexcitability. By combining patch-clamp electrophysiology and quantitative glutamate imaging, we compared excitability of CA1 neurons of WT and Mecp2 (-/y) mice, and analyzed the biophysical properties of subthreshold membrane channels...
2018: PloS One
https://www.readbyqxmd.com/read/29597222/clinical-complications-of-continuous-renal-replacement-therapy
#15
Florent Sigwalt, Axelle Bouteleux, François Dambricourt, Théo Asselborn, Florent Moriceau, Thomas Rimmelé
The various complications of continuous renal replacement therapy (CRRT) are mostly preventable. Hemodynamic disturbances are dominated by hypotension due to the modification of volume status, myocardial dysfunction, cardiac arrhythmia, or modification of systemic vascular resistances, which are correlated with body temperature changes. Metabolic complications remain at the forefront and have profoundly changed with the use of regional citrate anticoagulation (RCA). RCA may lead to two distinct situations: citrate overload and citrate accumulation, respectively, responsible for metabolic alkalosis and metabolic acidosis...
2018: Contributions to Nephrology
https://www.readbyqxmd.com/read/29572534/the-effects-of-hydroxyethyl-starch-and-gelatine-on-pulmonary-cytokine-production-and-oedema-formation
#16
Julia Krabbe, Nadine Ruske, Till Braunschweig, Svetlana Kintsler, Jan W Spillner, Thomas Schröder, Sebastian Kalverkamp, Stephanie Kanzler, Annette D Rieg, Stefan Uhlig, Christian Martin
Recently, side effects of plasma expanders like hydroxyethyl starch and gelatine gained considerable attention. Most studies have focused on the kidneys; lungs remain unconsidered. Isolated mouse lungs were perfused for 4 hours with buffer solutions based on hydroxyethyl starch (HES) 130/0.4, HES 200/0.5 or gelatine and ventilated with low or high pressure under physiological pH and alkalosis. Outcome parameters were cytokine levels and the wet-to-dry ratio. For cytokine release, murine and human PCLS were incubated in three different buffers and time points...
March 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29568987/furosemide-induced-tubular-dysfunction-responding-to-prostaglandin-synthesis-inhibitor-therapy-in-a-child-with-nephrotic-syndrome
#17
T Harish Varma, Ashish Sharma, S Santhiya, Lesa Dawman, Karalanglin Tiewsoh
Furosemide is one of the most common drug used to treat anasarca in childhood nephrotic syndrome. It has minimal side effects on short-term usage, but prolonged use can result in polyuria, hypokalemia and metabolic alkalosis. This pseudo-bartter complication can be treated by discontinuation of the drug with adequate potassium replacement. We report a child who was given furosemide for 20 days elsewhere to treat the edema due to nephrotic syndrome and then presented to us with bartter-like syndrome. Furosemide was discontinued and potassium replacement was initiated...
March 22, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29564279/sporadic-hypothyroidism-related-hypokalemic-paralysis-diagnosis-in-a-resource-poor-setting
#18
Nadasha Kadeeja, Nivetha Senthilnathan, Stalin Viswanathan, Rajeswari Aghoram
Hypothyroidism and distal renal tubular acidosis causing hypokalemic paralysis (HP) have been described only in four female patients. HP as the initial manifestation of uncomplicated diabetes has been reported only in three young males. We report two middle-aged patients presenting with gradual-onset areflexic quadriparesis and neck flop, associated with urinary potassium losses, and recovering over 3 days. The male patient with alcohol abuse had urine pH >5.5 and hyperchloremic metabolic acidosis due to renal tubular acidosis and hypothyroidism...
October 2017: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29535093/an-unusual-manifestation-of-olfactory-neuroblastoma
#19
Zona Batacchi, Nicole K Andeen, Subbulaxmi Trikudanathan
A 62-year-old woman presented with an 11-month history of worsening nasal symptoms of rhinorrhoea, anosmia, nasal congestion and intermittent epistaxis. MRI revealed a large mass in the upper nasal vault. Biopsy of the mass revealed an olfactory neuroblastoma. While waiting resection, she acutely developed severe proximal muscle weakness, lethargy and lower extremity oedema. Blood glucose was elevated, and hypokalaemic metabolic alkalosis was noted. Elevated serum cortisol level of 95.7 µg/dL (8.7-22.4 µg/dL) and markedly elevated 24-hour urinary cortisol level of 6962...
March 13, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29534496/liddle-syndrome-review-of-the-literature-and-description-of-a-new-case
#20
REVIEW
Martina Tetti, Silvia Monticone, Jacopo Burrello, Patrizia Matarazzo, Franco Veglio, Barbara Pasini, Xavier Jeunemaitre, Paolo Mulatero
Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A , SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na⁺ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption...
March 11, 2018: International Journal of Molecular Sciences
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