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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
#1
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
https://www.readbyqxmd.com/read/29203429/oxidative-stress-in-urea-cycle-disorders-findings-from-clinical-and-basic-research
#2
REVIEW
Belisa Parmeggiani, Carmen Regla Vargas
Inborn errors of metabolism (IEM) comprise a group of over 600 disorders, each with a specific metabolic impairment due to a genetic defect. Urea cycle disorders (UCD) are IEM that affect the nitrogen disposal system, leading to hyperammonemia and the accumulation of other toxic metabolites in tissues of affected patients. UCD arise from mutations in the genes coding any of the enzymes participating in the urea cycle, either directly or as regulators of this pathway, causing severe respiratory alkalosis. Considering that the exact mechanisms underlying the damage found in UCD, the purpose of this minireview is to obtain data and search for links between UCD and oxidative stress, a phenomenon common to several IEM...
December 1, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29187232/long-term-continuous-renal-replacement-therapy-and-anticoagulation-with-citrate-in-critically-ill-patients-with-severe-liver-dysfunction
#3
Matthias Klingele, Theresa Stadler, Danilo Fliser, Timo Speer, Heinrich V Groesdonk, Alexander Raddatz
BACKGROUND: As of 2009, anticoagulation with citrate was standard practice in continuous renal replacement therapy (CRRT) for critically ill patients at the University Medical Centre of Saarland, Germany. Partial hepatic metabolism of citrate means accumulation may occur during CRRT in critically ill patients with impaired liver function. The aim of this study was to evaluate the actual influence of hepatic function on citrate-associated complications during long-term CRRT. METHODS: In a retrospective study conducted between January 2009 and November 2012, all cases of dialysis therapy performed in the interdisciplinary surgical intensive care unit were analysed...
November 29, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29185591/safety-and-efficacy-of-regional-citrate-anticoagulation-in-continuous-blood-purification-treatment-of-patients-with-multiple-organ-dysfunction-syndrome
#4
B Tuerdi, L Zuo, H Sun, K Wang, Z Wang, G Li
The aim of this study was to discuss the safety and efficacy of regional citrate anticoagulation (RCA) on continuous blood purification (CBP) during the treatment of multiple organ dysfunction syndrome (MODS). Thirty-five patients with MODS were divided into two groups: the local citrate anticoagulation (RCA) group, and the heparin-free blood purification (hfBP) group. The MODS severity was assessed according to Marshall's MODS score criteria. Blood coagulation indicators, blood pressure, filter lifespan, filter replacement frequency, anticoagulation indicators, and main metabolic and electrolyte indicators were analyzed and compared between RCA and hfBP groups...
November 17, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29181745/salicylate-intoxication-in-an-infant-a-case-report
#5
Rita Espírito Santo, Sara Vaz, Filipa Jalles, Leonor Boto, Francisco Abecasis
In children, the most common cause of an elevated anion gap (AG) with ketonemia, ketonuria, hyperglycemia, and glycosuria is diabetic ketoacidosis. However, when the clinical history is not clear, other causes must be considered. A 9-month-old girl was transferred to our pediatric intensive care unit (PICU) because of severe metabolic acidosis. On admission, she presented with Kussmaul breathing, tachycardia, irritability, and fever. Blood gasses revealed metabolic acidosis with superimposed respiratory alkalosis and elevated AG...
November 27, 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/29168167/interdependent-feedback-regulation-of-breathing-by-the-carotid-bodies-and-the-retrotrapezoid-nucleus
#6
Patrice G Guyenet, Douglas A Bayliss, Ruth L Stornetta, Roy Kanbar, Yingtang Shi, Benjamin B Holloway, George M P R Souza, Tyler M Basting, Stephen B G Abbott, Ian C Wenker
The retrotrapezoid nucleus, RTN, regulates breathing in a CO2 and state-dependent manner. RTN neurons are glutamatergic and innervate principally the respiratory pattern generator; they regulate multiple aspects of breathing, including active expiration, and maintain breathing automaticity during non-REM sleep. RTN neurons encode arterial PCO2 /pH via cell-autonomous and paracrine mechanisms, and via input from other CO2 -responsive neurons. In short, RTN neurons are a pivotal structure for breathing automaticity and arterial PCO2 homeostasis...
November 22, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/29141924/antenatal-bartter-syndrome-presenting-with-vomiting-and-constipation-mimicking-subacute-intestinal-obstruction-in-a-20-day-old-neonate
#7
Ibtihal Siddiq Abdelgadir, Fawzia Elgharbawy, Khalil Mohamad Salameh, Baha Eldin Juma
Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis...
November 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29130721/the-nutritional-limitations-of-plant-based-beverages-in-infancy-and-childhood
#8
Isidro Vitoria
Breastfeeding, infant formula and cow's milk are basic foods in infant nutrition. However, they are being increasingly replaced either totally or partially by plant-based beverages.The composition of 164 plant-based beverages available in Spain was reviewed based on the nutritional labeling of the package and the manufacturers' webpages. This was compared to the composition of cow's milk and infant formula. In addition, the nutritional disease associated with consumption of plant-based beverages in infants and children was reviewed by means of a literature search in Medline and Embase since 1990 based on the key words "plant-based beverages" or "rice beverages" or "almond beverages" or "soy beverages" and "infant" or "child"...
October 24, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29116603/leigh-syndrome-in-individuals-bearing-m-9185t-c-mtatp6-variant-is-hyperventilation-a-factor-which-starts-its-development
#9
Dorota Piekutowska-Abramczuk, Rafał Rutyna, Elżbieta Czyżyk, Elżbieta Jurkiewicz, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylwia Stachowicz, Joanna Strzemecka, Wiesław Guz, Michał Gawroński, Aneta Kosierb, Joanna Ligas, Mateusz Puchala, Anna Drelich-Zbroja, Małgorzata Bednarska-Makaruk, Wojciech Dąbrowski, Elżbieta Ciara, Janusz B Książyk, Ewa Pronicka
Leigh syndrome (LS), subacute necrotizing encephalomyelopathy is caused by various genetic defects, including m.9185T>C MTATP6 variant. Mechanism of LS development remains unknown. We report on the acid-base status of three patients with m.9185T>C related LS. At the onset, it showed respiratory alkalosis, reflecting excessive respiration effort (hyperventilation with low pCO2). In patient 1, the deterioration occurred in temporal relation to passive oxygen therapy. To the contrary, on the recovery, she demonstrated a relatively low respiratory drive, suggesting that a "hypoventilation" might be beneficial for m...
November 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29093260/-a-case-of-gitelman-syndrome-with-physical-retardation
#10
Juan Huang, Xiangrong Zheng, Dandan Guo, Guoyuan Zhang, Xia Wang, Chentao Liu
Gitelman syndrome is a rare disease. It is easy to be misdiagnosed and missed diagnosis due to the diverse clinical symptoms. A girl with long-term hypokalemia, who presented with intermittent pain of lower limb muscle and physical retardation, was treated in Xiangya Hospital, Central South University. Laboratory examination confirmed the severe hypokalemia and metabolic alkalosis. Gene sequencing indicated SLC12A3 gene mutation and the patient was finally diagnosed as Gitelman syndrome. Patients with chronic hypokalemia and metabolic alkalosis need to conduct gene sequencing to confirm the diagnosis...
October 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/29093236/primary-hyperaldosteronism-due-to-adrenocortical-adenoma-a-case-report
#11
Tjokorda Gde Dalem Pemayun, Ridho Naibaho, Maretina W Wiyati, Ardy Santosa, Siti Amarwati
Primary hyperaldosteronism is an adrenal abnormality in which there is some degree of autonomy of aldosterone secretion. We report a case of thirty three years old Javanese female presented with uncontrolled hypertension, muscular weakness, cramps  and progressing shortness of breath during working for 6 years. She had history of hypertension since age 20. Her serum potassium level was always low that associated with inappropriate kaliuresis. Blood gas analysis revealed metabolic alkalosis. Sonography of the adrenal gland showed right hipoechoic architecture; CT scan of the abdomen confirmed an right adrenal tumor measured 4 cm in its greatest dimension...
July 2017: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29092872/a-basic-therapy-gone-awry
#12
Laura B Galinko, Steven H Hsu, Cosmin Gauran, Michael L Fingerhood, Stephen M Pastores, Neil A Halpern, Sanjay Chawla
Baking soda (sodium bicarbonate) is a common household item that has gained popularity as an alternative cancer treatment. Some have speculated that alkali therapy neutralizes the extracellular acidity of tumor cells that promotes metastases. Internet blogs have touted alkali as a safe and natural alternative to chemotherapy that targets cancer cells without systemic effects. Sodium bicarbonate overdose is uncommon, with few reports of toxic effects in humans. The case described here is the first reported case of severe metabolic alkalosis related to topical use of sodium bicarbonate as a treatment for cancer...
November 2017: American Journal of Critical Care: An Official Publication, American Association of Critical-Care Nurses
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#13
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29044344/persistent-severe-hypokalemia-gitelman-syndrome-and-differential-diagnosis
#14
Christine Zomer Dal Molin, Daisson José Trevisol
The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones...
July 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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