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Zhang,Y.; Zhang,F.; Chen,D.; Lü,Q.; Tang,L.; Yang,C.; Lei,M.; Tong,N.. |
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. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gitelman syndrome; SLC12A3 gene; Homozygous mutant; Pedigree. |
Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001100701 |
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Zhang,F.; Bao,Z.J.; Shi,D.M.; Xiang,P.; Xiao,L.; Huang,Y.Q.; Zhang,G.S.; Yin,S.M.. |
We aimed to evaluate the effectiveness and safety of bismuth-containing quadruple therapy plus postural change after dosing for Helicobacter pylori eradication in gastrectomized patients. We compared 76 gastric stump patients with H. pylori infection (GS group) with 50 non-gastrectomized H. pylori-positive patients who met the treatment indication (controls). The GS group was divided into GS group 1 and GS group 2. All groups were administered bismuth potassium citrate (220 mg), esomeprazole (20 mg), amoxicillin (1.0 g), and furazolidone (100 mg) twice daily for 14 days. GS group 1 maintained a left lateral horizontal position for 30 min after dosing. H. pylori was detected using rapid urease testing and histologic examination of gastric mucosa before and... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Helicobacter pylori; Gastrectomy; Gastric stump; Eradication; Efficacy. |
Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016000200702 |
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