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https://www.readbyqxmd.com/read/29327845/the-role-of-science-in-the-opioid-crisis
#1
Manish Joshi, Thaddeus Bartter, Anita Joshi
No abstract text is available yet for this article.
November 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29237739/salt-losing-tubulopathies-in-children-what-s-new-what-s-controversial
#2
Robert Kleta, Detlef Bockenhauer
Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of the homeostatic functions of the kidney. Yet, owing to the rarity of these disorders, little clinical evidence regarding treatment exists. Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, reported clinical observations, and individual experiences...
December 13, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29218312/potassium-homeostasis-oxidative-stress-and-human-disease
#3
Udensi K Udensi, Paul B Tchounwou
Potassium is the most abundant cation in the intracellular fluid and it plays a vital role in the maintenance of normal cell functions. Thus, potassium homeostasis across the cell membrane, is very critical because a tilt in this balance can result in different diseases that could be life threatening. Both Oxidative stress (OS) and potassium imbalance can cause life threatening health conditions. OS and abnormalities in potassium channel have been reported in neurodegenerative diseases. This review highlights the major factors involved in potassium homeostasis (dietary, hormonal, genetic, and physiologic influences), and discusses the major diseases and abnormalities associated with potassium imbalance including hypokalemia, hyperkalemia, hypertension, chronic kidney disease, and Gordon's syndrome, Bartter syndrome, and Gitelman syndrome...
2017: International Journal of Clinical and Experimental Physiology
https://www.readbyqxmd.com/read/29168366/normal-sweat-chloride-test-does-not-rule-out-cystic-fibrosis
#4
Abdurrahman Erdem Başaran, Nimet Karataş-Torun, İbrahim Cemal Maslak, Ayşen Bingöl, Özgül M Alper
Başaran AE, Karataş-Torun N, Maslak İC, Bingöl A, Alper ÖM. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59: 68-70. A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29146702/prevalence-of-novel-maged2-mutations-in-antenatal-bartter-syndrome
#5
Anne Legrand, Cyrielle Treard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet-Thomas, Françoise Broux, Daniele Bruno, Stéphane Decramer, Georges Deschenes, Djamal Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, Gilles Morin, François Nobili, Christine Pietrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard, Rosa Vargas-Poussou
BACKGROUND AND OBJECTIVES: Mutations in the MAGED2 gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The French cohort of patients with antenatal Bartter syndrome encompasses 171 families...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29141924/antenatal-bartter-syndrome-presenting-with-vomiting-and-constipation-mimicking-subacute-intestinal-obstruction-in-a-20-day-old-neonate
#6
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/29092859/urinary-bladder-hypertrophy-is-susceptible-in-male-but-protected-in-female-romk-bartter-s-mouse
#7
Jun-Mo Kim, Shuhua Xu, Xiaoyun Guo, Haiyan Hu, Ke Dong, Tong Wang
The renal outer medullary potassium channel (ROMK; Kir1.1) plays an important role in Na(+) and K(+) homeostasis. ROMK knockout mice (KO) show a similar phenotype to Bartter's syndrome of salt wasting and dehydration due to reduced Na-2Cl-K-cotransporter activity but not in ROMK1 KO. ROMK KO mice also show hydronephrosis; however, the mechanism of this phenotype has not been understood. We have previously demonstrated a gender-sex difference in hydronephrosis and PGE2 production in ROMK KO mouse. In this study we compared the gender-sex difference in bladder hypertrophy and hydronephrosis in ROMK KO mice...
November 1, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#8
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/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#9
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
#10
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
#11
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/28937079/neonatal-bartter-syndrome-in-an-extremely-low-birth-weight-baby
#12
Deeparaj Hegde, Jayashree Mondkar, Nitinkumar Abdagire
Early diagnosis of Bartter syndrome (BS) in the neonatal period is a clinical challenge, more so in an extremely low birth weight (ELBW) baby because of the inherent renal immaturity and the associated difficulty in fluid management. However, once a diagnosis is made, the disorder is known to respond well to fluid and electrolyte management, prostaglandin inhibitors, and potassium-sparing diuretics. Herein, we report a case of neonatal BS in a very premature ELBW infant.
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28904439/association-of-amelogenesis-imperfecta-and-bartter-s-syndrome
#13
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/28874045/anion-selective-cholesterol-decorated-macrocyclic-transmembrane-ion-carriers
#14
Harekrushna Behera, Nandita Madhavan
Anion transporters play a vital role in cellular processes and their dysregulation leads to a range of diseases such as cystic fibrosis, Bartter's syndrome and epilepsy. Synthetic chloride transporters are known to induce apoptosis in cancer cell lines. Herein, we report triamide macrocycles that are easily synthesized and externally functionalized by pendant membrane-permeable groups. Among a variety of chains appended onto the macrocycle scaffold, cholesterol is found to be the best with an EC50 value of 0...
September 8, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#15
(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/28870038/-gene-analysis-in-a-family-with-adult-onset-bartter-syndrome-type-2
#16
Y Han, F Wang, Y G Wang
No abstract text is available yet for this article.
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28796541/inflammatory-myo-fibroblastic-tumor-of-the-lung-a-rare-primary-lung-cancer
#17
Krishna Prasad Joshi, Upendra Kaphle, Matthew A Steliga, Thaddeus Bartter, Priya Priyambada, Shahanawaz Jiwani
No abstract text is available yet for this article.
August 10, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28775266/in-silico-model-of-the-human-clc-kb-chloride-channel-pore-mapping-biostructural-pathology-and-drug-screening
#18
Maxime Louet, Sara Bitam, Naziha Bakouh, Yohan Bignon, Gabrielle Planelles, David Lagorce, Maria A Miteva, Dominique Eladari, Jacques Teulon, Bruno O Villoutreix
The human ClC-Kb channel plays a key role in exporting chloride ions from the cytosol and is known to be involved in Bartter syndrome type 3 when its permeation capacity is decreased. The ClC-Kb channel has been recently proposed as a potential therapeutic target to treat hypertension. In order to gain new insights into the sequence-structure-function relationships of this channel, to investigate possible impacts of amino-acid substitutions, and to design novel inhibitors, we first built a structural model of the human ClC-Kb channel using comparative modeling strategies...
August 3, 2017: Scientific Reports
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
#19
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/28699114/reversible-hypokalemia-and-bartter-like-syndrome-during-prolonged-systemic-therapy-with-colistimethate-sodium-in-an-adult-patient
#20
Tarek Kamal Eldin, Grazia Tosone, Alfredo Capuano, Raffaele Orlando
We present the case of a 58-year-old woman who developed hypokalaemia and metabolic alkalosis 2 weeks after therapy with colistimethate sodium for the treatment of chronic lower limb ulcer infection by extensively drug-resistant (XDR) Pseudomonas aeruginosa. The metabolic changes observed resembled Bartter syndrome, a group of congenital disorders affecting the distal segments of the renal tubules. The metabolic abnormalities reversed spontaneously 6 days after drug discontinuation. Acquired forms of Bartter syndrome have been reported during courses of antibiotic therapy; however, to our knowledge, this is the first documented case associated with colistimethate therapy in an adult...
December 2017: Drug Safety—Case Reports
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