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https://www.readbyqxmd.com/read/28062333/electronic-goals-of-care-alerts-an-innovative-strategy-to-promote-primary-palliative-care
#1
Erin M Haley, Deborah Meisel, Yevgeniy Gitelman, Laura Dingfield, David J Casarett, Nina R O'Connor
CONTEXT: Given the shortage of palliative care specialists, strategies are needed to promote primary palliative care by non-palliative care providers. Electronic reminders are frequently used in medicine to standardize practice, but their effectiveness in encouraging goals of care discussions is not well understood. OBJECTIVES: To determine whether brief education and electronic alerts increase the frequency of goals of care discussions. METHODS: All general medicine services at a large academic medical center were included...
January 3, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28018459/a-novel-mutation-of-clcnkb-in-a-korean-patient-of-mixed-phenotype-of-bartter-gitelman-syndrome
#2
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28003083/gitelman-syndrome-consensus-and-guidance-from-a-kidney-disease-improving-global-outcomes-kdigo-controversies-conference
#3
Anne Blanchard, Detlef Bockenhauer, Davide Bolignano, Lorenzo A Calò, Etienne Cosyns, Olivier Devuyst, David H Ellison, Fiona E Karet Frankl, Nine V A M Knoers, Martin Konrad, Shih-Hua Lin, Rosa Vargas-Poussou
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations...
January 2017: Kidney International
https://www.readbyqxmd.com/read/27992660/the-challenges-of-diagnosing-cognitive-dysfunction-with-neuropsychiatric-systemic-lupus-erythematosus-in-childhood
#4
REVIEW
Ashwaq AlE'ed, Patricia Vega-Fernandez, Eyal Muscal, Claas Hinze, Lori B Tucker, Simone Appenzeller, Brigitte Bader-Meunier, Johannes Roth, Vicenç Torrente-Segarra, Marisa S Klein-Gitelman, Deborah M Levy, Tresa Roebuck-Spencer, Hermine Brunner
The diagnosis of Neuropsychiatric systemic lupus erythematosus disease (NPSLE) is challenging. The Automated Neuropsychological Assessment Metrics (ANAM) has been shown to be an accessible and promising tool for evaluating possible NPSLE in adult and childhood lupus. In this review, we present information about the development and use of Ped-ANAM; the benefit of using Ped-ANAM in children with and without NPSLE in the assessment and follow up of their disease condition; and the correlation of Ped-ANAM to imaging studies such as magnetic resonance imaging (MRI)...
December 19, 2016: Arthritis Care & Research
https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#5
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/27872838/new-slc12a3-disease-causative-mutation-of-gitelman-s-syndrome
#6
Teresa Grillone, Miranda Menniti, Francesco Bombardiere, Marco Flavio Michele Vismara, Stefania Belviso, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao
Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation of SLC12A3 found in two brothers affected by GS. Hypokalemia, hypocalciuria and hyper-reninemia were present in both patients while hypomagnesemia was detected only in one. Both patients are compound heterozygotes carrying one well known GS associated mutation (c.2581 C > T) and a new one (c...
November 6, 2016: World Journal of Nephrology
https://www.readbyqxmd.com/read/27872156/association-between-blood-pressure-and-adverse-renal-events-in-type-1-diabetes
#7
Elaine Ku, Charles E McCulloch, Michael Mauer, Stephen E Gitelman, Barbara A Grimes, Chi-Yuan Hsu
OBJECTIVE: To compare different blood pressure (BP) levels in their association with the risk of renal outcomes in type 1 diabetes and to determine whether an intensive glycemic control strategy modifies this association. RESEARCH DESIGN AND METHODS: We included 1,441 participants with type 1 diabetes between the ages of 13 and 39 years who had previously been randomized to receive intensive versus conventional glycemic control in the Diabetes Control and Complications Trial (DCCT)...
December 2016: Diabetes Care
https://www.readbyqxmd.com/read/27815594/wnk-signalling-pathways-in-blood-pressure-regulation
#8
REVIEW
Meena Murthy, Thimo Kurz, Kevin M O'Shaughnessy
Hypertension (high blood pressure) is a major public health problem affecting more than a billion people worldwide with complications, including stroke, heart failure and kidney failure. The regulation of blood pressure is multifactorial reflecting genetic susceptibility, in utero environment and external factors such as obesity and salt intake. In keeping with Arthur Guyton's hypothesis, the kidney plays a key role in blood pressure control and data from clinical studies; physiology and genetics have shown that hypertension is driven a failure of the kidney to excrete excess salt at normal levels of blood pressure...
November 4, 2016: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27806799/-a-case-of-gitelman-syndrome
#9
Q X Chen, Y G Sha, F Zhao
No abstract text is available yet for this article.
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27803420/acquired-gitelman-syndrome-in-an-anti-ssa-antibody-positive-patient-with-a-slc12a3-heterozygous-mutation
#10
Takeshi Kusuda, Tadashi Hosoya, Takayasu Mori, Katsuhito Ihara, Hidenori Nishida, Motoko Chiga, Eisei Sohara, Tatemitsu Rai, Ryuji Koike, Shinichi Uchida, Hitoshi Kohsaka
A 36-year-old woman developed hypokalemic metabolic alkalosis after anti SS-A antibody was found to be positive. Diuretic loading test results were compatible with Gitelman syndrome (GS). The patient had a heterozygous mutation in SLC12A3, which encodes for thiazide-sensitive NaCl cotransporter (NCCT). While the mutation may be responsible for a latent hypofunction of NCCTs, the underlying anti-SSA antibody-associated autoimmunity induced the manifestation of its hypofunction. To the best of our knowledge, this is the first report to demonstrate that anti SS-A antibody-associated autoimmunity may induce GS in a patient with a SLC12A3 heterozygous mutation...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27798456/future-considerations-based-on-the-information-from-barrter-s-and-gitelman-s-syndromes
#11
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/27784896/cryptic-exon-activation-in-slc12a3-in-gitelman-syndrome
#12
Kandai Nozu, Yoshimi Nozu, Keita Nakanishi, Takao Konomoto, Tomoko Horinouchi, Akemi Shono, Naoya Morisada, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Mariko Taniguchi-Ikeda, Igor Vorechovsky, Kazumoto Iijima
Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia. GS is caused by loss-of-function mutations in the solute carrier family 12 member 3 (SLC12A3) gene, but molecular mechanisms underlying such a wide range of symptoms are poorly understood. Here we report cryptic exon activation in SLC12A3 intron 12 in a clinically asymptomatic GS, resulting from an intronic mutation c...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27783806/a-novel-homozygous-mutation-in-the-solute-carrier-family-12-member-3-gene-in-a-chinese-family-with-gitelman-syndrome
#13
Y Zhang, F Zhang, D Chen, Q Lü, L Tang, C Yang, M Lei, N Tong
Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote...
October 24, 2016: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/27766821/gitelman-syndrome-presenting-during-pregnancy-with-adverse-foetal-outcome
#14
N Nand, A R Deshmukh, R Mathur, V Chauhan, Brijlal
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population. This patient presented with loose stool, vomiting and sudden onset quadriparesis. Investigations revealed hypokalaemia, metabolic acidosis, hypomagnesaemia, hypocalciuria, hypermagnesuria. Symptoms and hypokalemia improved after starting oral magnesium and potassium supplements. But the patient again presented with symptomatic hypokalemia and delivered a still born foetus with hydrocephalus...
October 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27752015/gitelman-s-syndrome-presenting-with-hypocalcemic-tetany-and-hypokalemic-periodic-paralysis
#15
Kunal Gandhi, Dharmendra Prasad, Vinay Malhotra, Dhananjai Agrawal
Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman's syndrome has rarely been reported in literature. We report a rare case of Gitelman's syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27747587/an-update-on-treatment-and-management-of-pediatric-systemic-lupus-erythematosus
#16
REVIEW
Amit Thakral, Marisa S Klein-Gitelman
Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disorder in which 20 % of patients are diagnosed in childhood. Childhood-onset SLE is associated with higher morbidity and mortality than adult-onset SLE. The aims of disease management with early immunosuppression are to decrease disease activity and improve quality of life. A multidisciplinary approach is necessary due to the complexity of lupus in pediatric patients. It is important to provide patients with high quality of care and to instill ownership of their disease process from a young age to prepare them to manage this life-long illness...
December 2016: Rheumatology and Therapy
https://www.readbyqxmd.com/read/27737396/transient-hyperphosphatemia-a-benign-laboratory-disorder-in-a-boy-with-gitelman-syndrome
#17
Sylva Skalova, Stepan Kutilek
Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children. When encountered in a child with either chronic bone, liver or kidney disease, it might concern the physician...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/27735167/gitelman-like-syndrome-with-kanamycin-toxicity
#18
Gouranga Santra, Rudrajit Paul, Avik Karak, Somnath Mukhopadhay
A 22 year-old lady with multi-drug-resistant pulmonary tuberculosis was on Kanamycin, Cycloserine, Ethionamide, Pyrazinamide and Moxifloxacin since more than two months. She presented with muscle cramps and carpopedal spasm. Investigation revealed hypokalemia and metabolic alkalosis. She also had hypomagnesemia, hypochloremia and hypocalciuria. Serum urea and creatinine levels were normal. Patient was treated with intravenous and oral potassium chloride. Kanamycin was stopped. Metabolic alkalosis and hypokalemia improved gradually over one month...
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27735149/clinical-and-aetiological-spectrum-of-hypokalemic-flaccid-paralysis-in-western-odisha
#19
Biranchi Narayan Mohapatra, Sujit Kumar Lenka, Manoranjan Acharya, Chakradhar Majhi, Gouri Oram, Khetra Mohan Tudu
OBJECTIVE: To study the clinical profile of hypokalemic flaccid paralysis (HKFP) and to evaluate its causes. METHODS: Fifty cases of hypokalemic flaccid paralysis (HKFP) admitted between November 2012 to October 2014 were taken up in the study. Serum potassium level < 3.5 mmol/ltr has been taken as hypokalemia. All cases were studied for spot and/or 24 hour urinary sodium / potassium, serum potassium / calcium / magnesium. Hypokalemic periodic paralysis (HPP) were diagnosed if there was spot/24 hour urine potassium excretion < 20mmol/ltr in presence of hypokalemia and flaccid weakness without other causes...
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27728488/a-rare-case-report-on-gitelman-s-syndrome-with-clubbing
#20
Sameer Mehta
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
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