Results 31 to 40 of about 1,035 (181)

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea [PDF]

, 2017
Objectives: We aimed to improve the knowledge of pathogenic mutations in sporadic cases of congenital chloride diarrhea (CCD) and emphasize the importance of functional studies to define the effect of novel mutations.
Amato, Felice, BERNI CANANI, Roberto, Cardile, Sabrina, Cardillo, Giuseppe, Castaldo, Giuseppe, Comegna, Marika, Elce, Ausilia, Giordano, Sonia, Liguori, Renato, Lucaccioni, Laura, Lugli, Licia, Pezzella, Vincenza, Romano, Claudio, Scorza, Manuela   +13 more
core   +1 more source

A systematic review and meta-analysis of thiazide-induced hyponatraemia: time to reconsider electrolyte monitoring regimens after thiazide initiation? [PDF]

, 2015
Aims: Hyponatraemia is one of the major adverse effects of thiazide and thiazide-like diuretics and the leading cause of drug-induced hyponatraemia requiring hospital admission.
Barber, Jennifer, Clayton, Jennifer A., Ferner, Robin E., Glover, Mark, Gordon, Richard D., Hall, Ian P., McDowell, Sarah E., McKeever, Tricia M., O'Shaughnessy, Kevin M., Stowasser, Michael   +9 more
core   +4 more sources

Pseudo Bartter syndrome: A case report

The Journal of Kartal Training and Research Hospital, 2011
Giris Hipokalemi, hipokloremi ve metabolik alkaloz ile karakterize genetik gecisli bir klinik tablo olan Bartter sendromu (BS), 1962 yilinda Bartter ve ark.[1] tarafindan tanimlanmistir. Bartter sendromunda renal tubuler bozukluk sonucu idrarla asiri sodyum, klor ve potasyum kaybi ortaya cikar.
Mesut Okur, Aysenur Otlu, Dursun Ali Senses   +2 more
openaire   +1 more source

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

BMC Medical Genetics, 2019
Background Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis in Sri Lanka ...
Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Nambage Dona Priyani Dhammika Chandrasiri, Eresha Jasinge   +5 more
doaj   +1 more source

Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features

Saudi Journal of Kidney Diseases and Transplantation, 2013
Pseudo-Bartter Syndrome (PBS), although quite common in patients with cystic fibrosis (CF), is often missed as simple dehydration or Bartter syndrome.
Muna M Dahabreh, Abdelhamid S Najada
doaj   +1 more source

THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: G protein‐coupled receptors

British Journal of Pharmacology, Volume 176, Issue S1, Page S21-S141, December 2019., 2019
The Concise Guide to PHARMACOLOGY 2019/20 is the fourth in this series of biennial publications. The Concise Guide provides concise overviews of the key properties of nearly 1800 human drug targets with an emphasis on selective pharmacology (where available), plus links to the open access knowledgebase source of drug targets and their ligands (www ...
Stephen P H Alexander, Arthur Christopoulos, Anthony P Davenport, Eamonn Kelly, Alistair Mathie, John A Peters, Emma L Veale, Jane F Armstrong, Elena Faccenda, Simon D Harding, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators, Maria P Abbracchio, Wayne Alexander, Khaled Al-hosaini, Magnus Bäck, Jean‐Martin Beaulieu, Kenneth E. Bernstein, Bernhard Bettler, Nigel JM Birdsall, Victoria Blaho, Corinne Bousquet, Hans Bräuner-Osborne, Geoffrey Burnstock, Girolamo Caló, Justo P Castaño, Kevin J Catt, Stefania Ceruti, Paul Chazot, Nan Chiang, Jerold Chun, Antonia Cianciulli, Lucie H Clapp, Réjean Couture, Zsolt Csaba, Gordon Dent, Khuraijam Dhanachandra Singh, Steven D Douglas, Pascal Dournaud, Satoru Eguchi, Emanuel Escher, Edward Filardo, Tung M Fong, Marta Fumagalli, Raul R Gainetdinov, Marc de Gasparo, Marvin Gershengorn, Fernand Gobeil, Theodore L Goodfriend, Cyril Goudet, Karen J Gregory, Andrew L Gundlach, Jörg Hamann, Julien Hanson, Richard L Hauger, Debbie Hay, Akos Heinemann, Morley D Hollenberg, Nicholas D Holliday, Mastgugu Horiuchi, Daniel Hoyer, László Hunyady, Ahsan Husain, Adriaan P Ijzerman, Tadashi Inagami, Kenneth A Jacobson, Robert T Jensen, Ralf Jockers, Deepa Jonnalagadda, Sadashiva Karnik, Klemens Kaupmann, Jacqueline Kemp, Charles Kennedy, Yasuyuki Kihara, Paweł Kozielewicz, Hans‐Jürgen Kreienkamp, Jyrki P Kukkonen, Tobias Langenhan, Katie Leach, Davide Lecca, John D Lee, Susan E Leeman, Jérôme Leprince, Stephen J Lolait, Amelie Lupp, Robyn Macrae, Janet Maguire, Jean Mazella, Craig A McArdle, Shlomo Melmed, Martin C Michel, Laurence Miller, Vincenzo Mitolo, Bernard Mouillac, Philip M Murphy, Jean‐Louis Nahon, Xavier Norel, Duuamene Nyimanu, Anne‐Marie O'Carroll, Stefan Offermanns, Maria A Panaro, Roger G Pertwee, Jean‐Philippe Pin, Eric Prossnitz, Rithwik Ramachandran, Rainer K Reinscheid, Philippe Rondard, G Enrico Rovati, Chiara Ruzza, Gareth Sanger, Torsten Schöneberg, Gunnar Schulte, Stefan Schulz, Deborah L Segaloff, Charles N Serhan, Leigh A Stoddart, Yukihiko Sugimoto, Roger Summers, Valerie Tan, Walter Thomas, Pieter BMWM Timmermans, Kalyan Tirupula, Giovanni Tulipano, Hamiyet Unal, Thomas Unger, Patrick Vanderheyden, David Vaudry, Hubert Vaudry, Jean‐Pierre Vilardaga, Christopher S Walker, Donald T Ward, Hans‐Jürgen Wester, Gary B Willars, Tom Lloyd Williams, Trent M Woodruff, Chengcan Yao   +138 more
wiley   +1 more source

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis [PDF]

Revista Brasileira de Saúde Materno Infantil
Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were
Carolina Godoy, Igor Radel, Laís Ribeiro Mota, Marília Augusta Santos, Regina Terse, Edna Lúcia Souza   +5 more
doaj   +1 more source

Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes [PDF]

, 2014
Extracellular calcium participates in several key physiological functions, such as control of blood coagulation, bone calcification or muscle contraction.
Bochud, M., Bonny, O.
core   +1 more source

Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review

Nephrology, Volume 22, Issue 8, Page 652-655, August 2017., 2017
Abstract Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50‐year‐old woman was admitted to our department because of nausea, acratia and sicca complex. Laboratory tests after admission showed renal failure, hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria, all of which met the diagnostic criteria ...
Xiangchen Gu, Zheling Su, Min Chen, Yanqiu Xu, Yi Wang   +4 more
wiley   +1 more source

Neonatal pseudo-Bartter syndrome due to maternal eating disorder [PDF]

Journal of Perinatology, 2008
A total of 4 of 153 low birth weight infants at our hospital were found to have pseudo-Bartter syndrome in 2005 and 2006. The neonates (two of whom were twins; light for gestational age 2, appropriate for gestational age 1 and small for gestational age 1) showed symptoms of apnea and/or poor feeding or patent ductus arteriosus, which disappeared by day
R, Higuchi, T, Sugimoto, C, Hiramatsu, T, Kumagai, T, Okutani, S, Yagi, T, Matsuoka, C, Yata, S, Minami   +8 more
openaire   +2 more sources