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https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#1
Hannsjörg W Seyberth, Stefanie Weber, Martin Kömhoff
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the physiologic classification has been tested. RECENT FINDINGS: According to the physiologic approach, salt-losing tubulopathies can be divided into two major groups (with completely different tubular defects): first, disorders of the thick ascending limb of Henle's loop (loop disorders); second, disorders of the distal convolute tubule (DCT disorders)...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27882009/functional-and-structural-abnormalities-of-the-kidney-and-urinary-tract-in-severely-malnourished-children-a-hospital-based-study
#2
Misbah Anjum, Khemchand N Moorani, Ifra Sameen, Muhammad Ayaz Mustufa, Shazia Kulsoom
OBJECTIVES: The association of malnutrition and systemic diseases like chronic kidney disease (CKD) is well known. Various urinary tract abnormalities may be associated with malnutrition. So objective of current study was to determine the frequency of functional and structural urinary tract abnormalities in severely malnourished children admitted in Nutritional Rehabilitation Unit (NRU) of a tertiary care facility, Karachi. METHODS: This descriptive cases series of 78 children was conducted in NRU from October 2014 - March 2015...
September 2016: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/27851561/1926-lepidic-predominant-adenocarcinoma-a-rare-cause-of-respiratory-failure-with-diffuse-lung-disease
#3
Aditya Chada, Upendra Kaphle, Krishna Kakkera, Thaddeus Bartter
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27798456/future-considerations-based-on-the-information-from-barrter-s-and-gitelman-s-syndromes
#4
Hadas Alfandary, Daniel Landau
PURPOSE OF REVIEW: Bartter and Gitelman syndromes are typical normotensive salt losing hypokalaemic tubulopathies. Their pathogenesis was gradually deciphered in the past 5 decades, first by typical salt balance studies and histopathology, followed by genetic characterization and discovery of the affected different ion channels. Although the different genotypic subtypes were originally thought to show a similar phenotype, important clinical and biochemical differences can now be found...
January 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/27784486/-novel-slc26a3-mutation-in-an-infant-with-congenital-chloride-losing-diarrhea-initially-misdiagnosed-as-bartter-s-syndrome
#5
Y P Liu, Y X Chen, L R Qiu
No abstract text is available yet for this article.
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27748541/a-novel-variant-in-the-slc12a1-gene-in-two-families-with-antenatal-bartter-syndrome
#6
Anders Breinbjerg, Charlotte Siggaard Rittig, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
AIM: Bartter syndrome is an autosomal recessive inherited disease in which patients present with hypokalaemia and metabolic alkalosis. We present two apparently non-related cases with antenatal Bartter syndrome type I, due to a novel variant in the SLC12A1 gene encoding the bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 in the thick ascending limb of the loop of Henle. METHODS: Blood samples were received from the two cases and 19 of their relatives and deoxyribonucleic acid was extracted...
October 17, 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/27742781/endobronchial-valves-for-bronchopleural-fistula-pitfalls-and-principles
#7
Dany Gaspard, Thaddeus Bartter, Ziad Boujaoude, Haroon Raja, Rohan Arya, Nikhil Meena, Wissam Abouzgheib
BACKGROUND: Placement of endobronchial valves for bronchopleural fistula (BPF) is not always straightforward. A simple guide to the steps for an uncomplicated procedure does not encompass pitfalls that need to be understood and overcome to maximize the efficacy of this modality. OBJECTIVES: The objective of this study was to discuss examples of difficult cases for which the placement of endobronchial valves was not straightforward and required alterations in the usual basic steps...
October 14, 2016: Therapeutic Advances in Respiratory Disease
https://www.readbyqxmd.com/read/27728485/cardiac-arrest-in-pregnancy-refractory-hypokalemia-is-it-gitelman-or-type-3-bartters-syndrome
#8
Sabarinath, Sanket Shah, Lavanya, Rama Bhat
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27728466/severe-hypokalemia-with-grave-complication-diagnosed-as-bartter-syndrome
#9
Shyamal Das, A Chakraborty
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27682612/neonatal-bartter-syndrome-with-cholelithiasis-and-hydrocephalus-rare-association
#10
Özmert Ma Özdemir, Ceren Çıralı, Sebahat Yılmaz Ağladıoğlu, Havva Evrengül, Emre Tepeli, Hacer Ergin
Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27648267/fetal-urine-biochemistry-in-antenatal-bartter-syndrome-a-case-report
#11
Myriam L Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas-Poussou, Dominique Mahieu-Caputo, Jean-François Oury, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
September 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27633862/transient-antenatal-bartter-s-syndrome-and-x-linked-polyhydramnios-insights-from-the%C3%A2-genetics-of-a-rare-condition
#12
Raymond Quigley, Jeffrey M Saland
The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.
October 2016: Kidney International
https://www.readbyqxmd.com/read/27623420/congestive-adenopathy-a-mediastinal-sequela-of-volume-overload
#13
Yousef R Shweihat, James Perry, Yasser Etman, Ala Gabi, Yousef Hattab, Mohammad Al-Ourani, Prasanna Santhanam, Thaddeus Bartter
BACKGROUND: Endosonography has improved our ability to reach thoracic lymph nodes and to diagnose pathologic conditions with nodal involvement and has lowered the threshold for biopsy. The purpose of this study was to avoid unnecessary procedures, it is important to recognize benign adenopathy. Congestive heart failure (CHF) is both common and a common cause of adenopathy. The purpose of this study was to study the association between CHF and adenopathy and to describe the typical presentation of congestive adenopathy...
October 2016: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/27534763/a-7-year-old-girl-presenting-with-a-bartter-like-phenotype-answers
#14
Yunsoo Choe, Eujin Park, Hye Sun Hyun, Jung Min Ko, Hee Gyung Kang, Jeong Hun Kim, Sung-Hye Park, Hae Il Cheong
No abstract text is available yet for this article.
August 17, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27534762/a-7-year-old-girl-presenting-with-a-bartter-like-phenotype-questions
#15
Yunsoo Choe, Eujin Park, Hye Sun Hyun, Jung Min Ko, Hee Gyung Kang, Jeong Hun Kim, Sung-Hye Park, Hae Il Cheong
No abstract text is available yet for this article.
August 17, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27530794/-gene-mutation-analysis-and-prenatal-diagnosis-of-a-family-with-bartter-syndrome
#16
Long Li, Na Ma, Xiu-Rong Li, Fei Gong, Juan DU
OBJECTIVE: To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). METHODS: The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis...
August 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27511787/renal-apnoea-extreme-disturbance-of-homoeostasis-in-a-child-with-bartter-syndrome-type-iv
#17
Lucy Anne Plumb, William Van't Hoff, Robert Kleta, Chris Reid, Emma Ashton, Martin Samuels, Detlef Bockenhauer
No abstract text is available yet for this article.
August 6, 2016: Lancet
https://www.readbyqxmd.com/read/27508752/-op-5c-05-increased-rho-kinase-activity-in-dialysis-and-stage-3-4-chronic-kidney-disease-patients-with-left-ventricular-hypertrophy-implications-with-cardiovascular-risk
#18
L Calo', U Vertolli, E Pagnin, V Ravarotto, E Naso, G Maiolino, A Naso
OBJECTIVE: Cardiovascular disease (CVD) is the leading cause of excess mortality in chronic kidney disease (CKD) and dialysis patients (DP) who have higher prevalence of left ventricular hypertrophy (LVH), the strongest predictor of CV events. Rho kinase (ROCK) activation is linked in hypertensive patients to cardiac remodeling while ROCK inhibition suppresses cardiomyocyte hypertrophy and, in a human model opposite to hypertension such as Bartter's/Gitelman's syndromes patients, its downregulation associates with lack of CV remodeling...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27503158/exploration-under-the-dome-esophageal-ultrasound-with-the-ultrasound-bronchoscope-is-indispensible
#19
Nikhil Meena, Cidney Hulett, Setu Patolia, Thaddeus Bartter
BACKGROUND: Effective use of the convex curvilinear ultrasound bronchoscope in the esophagus (EUS-B) for fine needle aspiration biopsy of mediastinal structures is now well described. In contrast, there is little to no reporting, depending on the site of EUS-B for access to sub-diaphragmatic structures. Our practice has been accessing sub-diaphragmatic sites for years. This review documents our experience with EUS-B to biopsy liver, left adrenal glands, and coeliac lymph nodes. METHODS: After Institutional Review Board's approval, all endosonographic procedures performed by interventional pulmonary between July 2013 and June 2015 were reviewed...
July 2016: Endoscopic Ultrasound
https://www.readbyqxmd.com/read/27479011/ebus-tbna-and-eus-fna-risk-assessment-for-patients-receiving-clopidogrel
#20
Nikhil Meena, Wissam Abouzgheib, Setu Patolia, Justin Rosenheck, Ziad Boujaoude, Thaddeus Bartter
BACKGROUND: Clopidogrel is widely used for the prevention of thrombotic vascular complications. Its primary potential toxicity is bleeding. Management of clopidogrel therapy for patients undergoing invasive procedures is an area of ongoing study. We sought to evaluate the bleeding risk for patients undergoing needle aspiration biopsy by endobronchial ultrasound (EBUS) or esophageal ultrasound (EUS) while taking clopidogrel. METHODS: Retrospective review of sequential cases of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and esophageal ultrasound fine needle aspiration (EUS-FNA)...
October 2016: Journal of Bronchology & Interventional Pulmonology
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