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https://www.readbyqxmd.com/read/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#1
X Y Li, Y Jiang, L J Xu, L Duan, X Y Peng, L M Chen, W B Xia, X P Xing
Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ1 gene mutations, c. 931C >T (p...
October 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28984259/maternal-pseudo-bartter-syndrome-associated-with-severe-perinatal-brain-injury
#2
Shrenik Vora, Thowfique Ibrahim, Victor Samuel Rajadurai
BACKGROUND: Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury. CASE CHARACTERISTICS: This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting. OBSERVATION: Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent investigation workup points towards maternal severe metabolic alkalosis as its cause...
September 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28979772/late-onset-bartter-syndrome-type-ii
#3
Benjamin Gollasch, Yoland-Marie Anistan, Sima Canaan-Kühl, Maik Gollasch
Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c...
October 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28972357/-investigation-paraquat-poisoning-in-southwest-of-iran-from-sign-to-mortality-and-morbidity
#4
Farkhonde Jamshidi, Glareh Fathi, Hannaneh Davoodzadeh
Introduction: Paraquat is the most important herbicide of bi-prides class which is used widely in agriculture part but in many countries such as Iran, this herbicide use for suicide. This study was conducted with the aim to investigating Paraquat poisoning in Khuzestan province of Iran. Material and methods: This study is a retrospective and statistic investigation in which 159 files of toxicity cases were investigated during 2004 to 2015. The patients were contacted to inquire into their health, after completing a questionnaire, the data was gathered and analyzed using SPSS software...
2017: Archiwum Medycyny Sa̧dowej i Kryminologii
https://www.readbyqxmd.com/read/28959498/acute-hypocalcemia-and-metabolic-alkalosis-in-children-on-cation-exchange-resin-therapy
#5
Aadil Kakajiwala, Kevin T Barton, Elisha Rampolla, Christine Breen, Madhura Pradhan
BACKGROUND: Sodium polystyrene sulfonate (SPS) is a chelating agent used for the treatment of hyperkalemia. SPS has a wide range of exchange capacity requiring close monitoring of serum electrolytes. We observed two patients who developed acute hypocalcemia and increased metabolic alkalosis after initiating SPS therapy. We report these cases to draw attention to the potential risk of this medication in pediatric patients. CASE DIAGNOSIS/TREATMENT: Two children with chronic kidney disease on dialysis were started on SPS for hyperkalemia...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28936625/the-reproducibility-of-4-km-time-trial-tt-performance-following-individualised-sodium-bicarbonate-supplementation-a-randomised-controlled-trial-in-trained-cyclists
#6
Lewis Anthony Gough, Sanjoy Kumar Deb, Andy Sparks, Lars Robert McNaughton
BACKGROUND: Individual time to peak blood bicarbonate (HCO3(-)) has demonstrated good to excellent reproducibility following ingestion of both 0.2 g kg(-1) body mass (BM) and 0.3 g kg(-1) BM sodium bicarbonate (NaHCO3), but the consistency of the time trial (TT) performance response using such an individualised NaHCO3 ingestion strategy remains unknown. This study therefore evaluated the reproducibility of 4-km TT performance following NaHCO3 ingestion individualised to time to peak blood bicarbonate...
September 21, 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28932601/the-role-of-sodium-bicarbonate-in-the-management-of-some-toxic-ingestions
#7
REVIEW
Aibek E Mirrakhimov, Taha Ayach, Aram Barbaryan, Goutham Talari, Romil Chadha, Adam Gray
Adverse reactions to commonly prescribed medications and to substances of abuse may result in severe toxicity associated with increased morbidity and mortality. According to the Center for Disease Control, in 2013, at least 2113 human fatalities attributed to poisonings occurred in the United States of America. In this article, we review the data regarding the impact of systemic sodium bicarbonate administration in the management of certain poisonings including sodium channel blocker toxicities, salicylate overdose, and ingestion of some toxic alcohols and in various pharmacological toxicities...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28904439/association-of-amelogenesis-imperfecta-and-bartter-s-syndrome
#8
A C V Kumar, V Alekya, M S V V Krishna, K Alekya, M Aruna, M H K Reddy, B Sangeetha, R Ram, V S Kumar
Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28883635/tissue-alkalosis-in-cold-ischemia-time
#9
V Denninghoff, E H R Olivieri, C Fresno, A Uceda, L Mota, A P Suenaga, D M Carraro, V R Martins, A Avagnina, F A Soares, A H J Fróes Marques Campos
The control of pre-analytical-factors in human biospecimens collected for health research is currently required. Only two previous reports using post-mortem brain samples have tried to address the impact of cold-ischemia on tissue pH. Here we report pH variations according to time (third-order polynomial model) in mice for liver, kidney and lung samples. Tissue alkalosis in cold-ischemia time may be an underlying mechanism of gene expression changes. Therefore, tissue-pH regulation after organ removal may minimize biological stress in human tissue samples...
September 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#10
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28847139/swimming-three-ice-miles-within-fifteen-hours
#11
Mirko Stjepanovic, Pantelis T. Nikolaidis, Beat Knechtle
Ice Mile swimming (1608 m in water of below 5 °Celsius) is becoming increasingly popular. This case study aimed to identify body core temperature and selected haematological and biochemical parameters before and after repeated Ice Miles. An experienced ice swimmer completed three consecutive Ice Miles within 15 h. Swim times, body core temperatures, and selected urinary and haematological parameters were recorded. Body core temperature reached its maximum between 5, 8 and 15 min after immersion (37.7°C, 38...
August 31, 2017: Chinese Journal of Physiology
https://www.readbyqxmd.com/read/28844072/update-in-diagnosis-and-management-of-primary-aldosteronism
#12
REVIEW
Sofia M Dick, Marina Queiroz, Bárbara L Bernardi, Angélica Dall'Agnol, Letícia A Brondani, Sandra P Silveiro
Primary aldosteronism (PA) is a group of disorders in which aldosterone is excessively produced. These disorders can lead to hypertension, hypokalemia, hypervolemia and metabolic alkalosis. The prevalence of PA ranges from 5% to 12% around the globe, and the most common causes are adrenal adenoma and adrenal hyperplasia. The importance of PA recognition arises from the fact that it can have a remarkably adverse cardiovascular and renal impact, which can even result in death. The aldosterone-to-renin ratio (ARR) is the election test for screening PA, and one of the confirmatory tests, such as oral sodium loading (OSL) or saline infusion test (SIT), is in general necessary to confirm the diagnosis...
August 28, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28833697/effect-of-intravenously-administered-crystalloid-solutions-on-acid-base-balance-in-domestic-animals
#13
REVIEW
W Muir
Intravenous fluid therapy can alter plasma acid-base balance. The Stewart approach to acid-base balance is uniquely suited to identify and quantify the effects of the cationic and anionic constituents of crystalloid solutions on plasma pH. The plasma strong ion difference (SID) and weak acid concentrations are similar to those of the administered fluid, more so at higher administration rates and with larger volumes. A crystalloid's in vivo effects on plasma pH are described by 3 general rules: SID > [HCO3-] increases plasma pH (alkalosis); SID < [HCO3-] decreases plasma pH (alkalosis); and SID = [HCO3-] yields no change in plasma pH...
September 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28823132/a-short-term-supranutritional-vitamin-e-supplementation-alleviated-respiratory-alkalosis-but-did-not-reduce-oxidative-stress-in-heat-stressed-pigs
#14
Fan Liu, Pietro Celi, Surinder Singh Chauhan, Jeremy James Cottrell, Brian Joseph Leury, Frank Rowland Dunshea
Objective: Heat stress (HS) triggers oxidative stress and respiratory alkalosis in pigs. The objective of this experiment was to study whether a short-term supranutritional amount of dietary vitamin E (VE) can mitigate oxidative stress and respiratory alkalosis in heat-stressed pigs. Methods: A total of 24 pigs were given either a control diet (17 IU/kg VE) or a high VE (200 IU/kg VE; HiVE) diet for 14 d, then exposed to thermoneutral (TN; 20°C, 45% humidity) or HS (35°C, 35-45% humidity, 8 h daily) conditions for 7 d...
August 16, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28819721/inherited-not-acquired-gitelman-syndrome-in-a-patient-with-sj%C3%A3-gren-s-syndrome-importance-of-genetic-testing-to-distinguish-the-two-forms
#15
Eikan Mishima, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Takaaki Abe, Sadayoshi Ito
Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren's syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren's syndrome. A 41-year-old woman, who had been diagnosed with Sjögren's syndrome at 27-years-old, had shown chronic hypokalemia (2...
August 17, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28797558/prevalence-and-predictors-associated-with-severe-pulmonary-hypertension-in-copd
#16
Mitra Samareh Fekri, Mehdi Torabi, Sara Azizi Shoul, Moghaddameh Mirzaee
BACKGROUND: Pulmonary hypertension (PH) is one of the most common complications of COPD (chronic obstructive pulmonary disease), but its severe form is uncommon. Various factors play an important role in the occurrence and severity of pulmonary hypertension in patients. METHODS: This cross-sectional study was performed on patients with COPD referred to an emergency department over a one-year period. The tests-including complete blood count (CBC) and arterial blood gas (ABG), pulmonary functional test (PFT) and echocardiography-were performed for all patients to measure mPAP (mean pulmonary artery pressure), ejection fraction (EF) and body mass index (BMI)...
August 5, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28771454/%C3%AE-ketoglutarate-drives-electroneutral-nacl-reabsorption-in-intercalated-cells-by-activating-a-g-protein-coupled-receptor-oxgr1
#17
Paul R Grimm, Paul A Welling
PURPOSE OF REVIEW: This review describes the recent discoveries about a powerful electroneutral NaCl reabsorption mechanism in intercalated cells, and its regulation by an intrarenal metabolite paracrine, α-ketoglutartate, and the G-protein coupled receptor, Oxgr1. RECENT FINDINGS: The distal nephron fine-tunes sodium, chloride, potassium, hydrogen, bicarbonate and water transport to maintain electrolyte homeostasis and blood pressure. Intercalated cells have been traditionally viewed as the professional regulators of acid-base balance, but recent studies reveal that a specific population of intercalated cells, identified by the pendrin-transporter, have a surprising role in the regulation of salt balance...
September 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28751295/pseudo-bartter-syndrome-as-the-sole-manifestation-of-cystic-fibrosis-in-a-child-with-711-g-t-ivs8-5t-mutation-a-new-face-of-an-old-disease
#18
Faten Tinsa, Sondes Hadj Fredj, Imen Bel Hadj, Fatma Khalsi, Sonia Abdelhak, Khadija Boussetta, Taieb Messaoud
Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis. All 27 exons and the flanking intron regions of the CFTR gene were analysed by PCR and direct sequencing...
August 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28748897/milk-alkali-syndrome-induced-by-h1n1-influenza-vaccine
#19
Abdullah K Al-Hwiesh, Ibrahiem Saeed Abdul-Rahman, Nadia Al-Oudah, Sana Al-Solami, Fahd A Al-Muhanna
Milk-Alkali syndrome (MAS) consists of a triad of hypercalcemia, metabolic alkalosis, and acute renal failure. We hereby report a 75-year-old Indian gentleman who presented to our emergency department with a history of generalized weakness and easy fatigability. Investigations were consistent with MAS secondary to calcium carbonate and calcitriol treatment to prevent osteoporosis, aggravated by H1N1 influenza vaccine. The patient was treated with hemodialysis and zoledronate. To our knowledge, this is the first reported case of such association in the literature...
July 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28744758/gitelman-syndrome-an-analysis-of-the-underlying-pathophysiologic-mechanisms-of-acid-base-and-electrolyte-abnormalities
#20
REVIEW
T D Filippatos, C V Rizos, E Tzavella, M S Elisaf
Gitelman syndrome is the most common inherited tubular disease resulting from mutations of the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter in the early distal convoluted tubules. The review presents the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities observed in patients with Gitelman syndrome. The syndrome is usually characterized by hypokalemic metabolic alkalosis in combination with hypomagnesemia and hypocalciuria. Additionally, increased chloride excretion and renin/aldosterone levels, hypophosphatemia (occasionally), hyponatremia (rarely) and glucose intolerance/insulin resistance have been reported...
July 25, 2017: International Urology and Nephrology
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