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Contrast-free (Zero-contrast) TAVR for Severe Aortic Stenosis in Patient with Chronic Kidney Disease
Yeon-Jik Choi,Chul-Min Ahn,김다래,홍그루,고영국,홍명기 한국지질동맥경화학회 2018 지질·동맥경화학회지 Vol.7 No.1
Transcatheter aortic valve replacement (TAVR) or transcatheter aortic valve implantation (TAVI) for severe aortic stenosis (AS) is a minimally invasive interventional procedure that repairs a valve without removing the old, damaged valve. Instead, a replacement valve is wedged into the location of the native aortic valve. During TAVR, contrast is used for conventional aortic root angiography, positioning of the TAVR valve device, and assessing the peripheral vasculature. Therefore, contrast-induced acute kidney injury (AKI) is a major concern when performing TAVR and is associated with increased mortality in patients with impaired renal function. Although the exact mechanism of post-TAVR AKI is unknown and appears multifactorial, contrast medium has been reported as a major contributing factor. We report a case of zero-contrast TAVR for severe AS in a patient with chronic kidney disease (CKD). The procedure was successfully performed with only fluoroscopic and transesophageal echocardiography (TEE) guidance.
Sang-Yeon Lee,Hyun Been Choi,Mina Park,Il Soon Choi,Jieun An,Ami Kim,Eunku Kim,Nahyun Kim,Jin Hee Han,Min young Kim,Seung min Lee,Doo-Yi Oh,Bong Jik Kim,Nayoung Yi,Nayoung, K. D. Kim,Chung Lee,Woong-Y 생화학분자생물학회 2021 Experimental and molecular medicine Vol.53 No.-
Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hearing loss (DFNA2), and no effective pharmacotherapeutics have been developed to reverse channel activity impairment. Phosphatidylinositol 4,5-bisphosphate (PIP2), an obligatory phospholipid for maintaining KCNQ channel activity, confers differentialpharmacological sensitivity of channels to KCNQ openers. Through whole-exome sequencing of DFNA2 families, we identified three novel KCNQ4 variants related to diverse auditory phenotypes in the proximal C-terminus (p.Arg331Gln), the C-terminus of the S6 segment (p.Gly319Asp), and the pore region (p.Ala271_Asp272del). Potassium currents in HEK293T cells expressing each KCNQ4 variant were recorded by patch-clamp, and functional recovery by PIP2 expression or KCNQ openers was examined. In the homomeric expression setting, the three novel KCNQ4 mutant proteins lost conductance and were unresponsive to KCNQ openers or PIP2 expression. Loss of p.Arg331Gln conductance was slightly restored by a tandem concatemer channel (WT-p.R331Q), and increased PIP2 expression further increased the concatemer current to the level of the WT channel. Strikingly, an impaired homomeric p.Gly319Asp channel exhibited hyperactivity when a concatemer (WT-p.G319D), with a negative shift in the voltage dependence of activation. Correspondingly, a KCNQ inhibitor and chelation of PIP2 effectively downregulated the hyperactive WTp. G319D concatemer channel. Conversely, the pore-region variant (p.Ala271_Asp272del) was nonrescuable under any condition. Collectively, these novel KCNQ4 variants may constitute therapeutic targets that can be manipulated by the PIP2 level and KCNQregulating drugs under the physiological context of heterozygous expression. Our research contributes to the establishment of a genotype/mechanism-based therapeutic portfolio for DFNA2.
Kim, Bong Jik,Han, Jae Joon,Shin, Seung Han,Kim, Han-Suk,Yang, Hye Ran,Choi, Eun Hwa,Chang, Mun Young,Lee, Sang-Yeon,Suh, Myung-Whan,Koo, Ja-Won,Lee, Jun Ho,Choi, Byung Yoon,Oh, Seung-Ha Hindawi 2018 BioMed research international Vol.2018 No.-
<P>Congenital cytomegalovirus (cCMV) infection is a common congenital infection that causes sensorineural hearing loss (SNHL). Despite its substantial impact on public health and cost burden, epidemiology and clinical features of CMV-related SNHL have never been reported in the Korean populations. This study investigated the detailed audiologic phenotypes of cCMV infection to see if a specific SNHL pattern is associated with a particular clinical setting. A total of 38 patients with cCMV infection were studied retrospectively. Patients were classified into three groups with distinct demographics: clinically driven diagnosis (n=17), routine newborn CMV screening according to the NICU protocols (n=10), or referral to ENT for cochlear implant (CI) (n=11). The incidence of cCMV infection was 3.6%, showing 33.3% of SNHL among cCMV patients, 38% of asymmetric hearing loss, 29% of late-onset hearing loss, and diverse severity spectrum in patients with CMV-related SNHL. CI recipients with CMV-related SNHL showed a significantly improved speech perception. Surprisingly, in 36.4 % of CI implantees, initial audiological manifestation was significant asymmetry of hearing thresholds between both ears, with better ear retaining significant residual hearing up to 50dB. CMV turns out to be a significant etiology of SNHL, first to date reported in the Korean pediatric population. Analysis of audiologic phenotypes showed a very wide spectrum of SNHL and favorable CI outcomes in case of profound deafness. Especially for the patients with asymmetric hearing loss, close surveillance of hearing should be warranted and CI could be considered on the worse side first, based on the observation of rapid progression to profound deafness of better side.</P>