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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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| Wang,T.; Chen,D.; Wang,P.H.; Chen,J.; Deng,J.. |
| We used a computational fluid dynamics (CFD) model to study the inspiratory airflow profiles of patients with anterior nasal cavity stenosis who underwent curative surgery, by comparing pre- and postoperative airflow characteristics. Twenty patients with severe anterior nasal cavity stenosis, including one case of bilateral stenosis, underwent computed tomography (CT) scans for CFD modelling. The pre- and postoperative airflow characteristics of the nasal cavity were simulated and analyzed. The narrowest area of the nasal cavity in all 20 patients was located within the nasal valve area, and the mean cross-sectional area increased from 0.39 cm2 preoperative to 0.78 cm2 postoperative (P<0.01). Meanwhile, the mean airflow velocity in the nasal valve area... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Anterior nasal cavity stenosis; Computational fluid dynamics; Nasal valve area; Airflow characteristics. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016000900704 |
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| Cai,X.Z.; Huang,W.Y.; Qiao,Y.; Chen,Y.; Du,S.Y.; Chen,D.; Yu,S.; Liu,N.; Dou,L.Y.; Jiang,Y.. |
| The T-cell immunoglobulin and mucin domain (TIM) family is associated with autoimmune diseases, but its expression level in the immune cells of systemic lupus erythematosus (SLE) patients is not known. The aim of this study was to investigate whether the expression of TIM-3 mRNA is associated with pathogenesis of SLE. Quantitative real-time reverse transcription-polymerase chain reaction analysis (qRT-PCR) was used to determine TIM-1, TIM-3, and TIM-4 mRNA expression in peripheral blood mononuclear cells (PBMCs) from 132 patients with SLE and 62 healthy controls. The PBMC surface protein expression of TIMs in PBMCs from 20 SLE patients and 15 healthy controls was assayed by flow cytometry. Only TIM-3 mRNA expression decreased significantly in SLE patients... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: TIM-3; Systemic lupus erythematosus; Lupus nephritis; T-helper cell. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2015000100077 |
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