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  • Online Resource  (6)
  • S. Karger AG  (6)
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  • S. Karger AG  (6)
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  • 1
    Online Resource
    Online Resource
    A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia
    S. Karger AG ; 2018
    In:  Cellular Physiology and Biochemistry Vol. 47, No. 5 ( 2018), p. 1989-1997
    Details
    In: Cellular Physiology and Biochemistry, S. Karger AG, Vol. 47, No. 5 ( 2018), p. 1989-1997
    Abstract: Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss. Methods: We study a Chinese Zhuang ethnicity family with thiamine-responsive megaloblastic anemia. The proband of the study presented with anemia and diabetes, similar to his late brother, as well as visual impairment. All clinical manifestations were corrected with thiamine (30 mg/d) supplementation for 1–3 months, except for visual impairment, which was irreversible. The presence of mutations in all exons and the flanking sequences of the SLC19A2 gene were analyzed in this family based on the proband’s and his brother’s clinical data. Computer analysis and prediction of the protein conformation of mutant THTR-1. The relative concentration of thiamine pyrophosphate in the proband’s whole blood before and after initiation of thiamine supplement was measured by high performance liquid chromatography (HPLC). Results: Gene sequencing showed a homozygous mutation in exon 6 of the SLC19A2 gene (c.1409insT) in the proband. His parents and sister were diagnosed as heterozygous carriers of the c.1409insT mutation. Computer simulation showed that the mutations caused a change in protein conformation. HPLC results suggested that the relative concentration of thiamine pyrophosphate in the proband’s whole blood after thiamine supplement was significantly different (P=0.016) from that at baseline. Conclusions: This novel homozygous mutation (c.1409insT) caused the onset of thiamine-responsive megaloblastic anemia in the proband.
    Type of Medium: Online Resource
    ISSN: 1015-8987 , 1421-9778
    URL: Article
    DOI: 10.1159/000491467
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 1482056-0
    SSG: 12
    SSG: 15,3
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  • 2
    Online Resource
    Online Resource
    Genetic Variants on 〈b〉〈i〉SCN5A〈/i〉〈/b〉, 〈b〉〈i〉KCNQ1〈/i〉〈/b〉, and 〈b〉〈i〉KCNH2〈/i〉〈/b〉 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population
    S. Karger AG ; 2020
    In:  Cardiology Vol. 145, No. 1 ( 2020), p. 38-45
    Details
    In: Cardiology, S. Karger AG, Vol. 145, No. 1 ( 2020), p. 38-45
    Abstract: 〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 Acute myocardial infarction (AMI) remains a leading cause of morbidity and mortality worldwide. About half of sudden deaths from AMI are mainly because of malignant ventricular arrhythmias (VA) after AMI. The sodium channel gene 〈 i 〉 SCN5A 〈 /i 〉 and potassium channel genes 〈 i 〉 KCNQ1 〈 /i 〉 and 〈 i 〉 KCNH2 〈 /i 〉 have been widely reported to be genetic risk factors for arrhythmia including Brugada syndrome and long QT syndrome (LQTS). A few studies reported the association of 〈 i 〉 SCN5A 〈 /i 〉 variant with ventricular tachycardia (VT)/ventricular fibrillation (VF) complicating AMI. However, little is known about the role of 〈 i 〉 KCNQ1 〈 /i 〉 and 〈 i 〉 KCNH2 〈 /i 〉 in AMI with VA (AMI_VA). This study focuses on investigating the potential variants on 〈 i 〉 SCN5A 〈 /i 〉 , 〈 i 〉 KCNQ1 〈 /i 〉 , and 〈 i 〉 KCNH2 〈 /i 〉 contributing to AMI with VA in a Chinese population. 〈 b 〉 〈 i 〉 Materials and Methods: 〈 /i 〉 〈 /b 〉 In total, 139 patients with AMI_VA, and 337 patients with AMI only, were included. Thirty exonic sites were selected to be screened. Sanger sequencing was used to detect variants. A subsequent association study was also performed between AMI_VA and AMI. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Twelve variants [5 on 〈 i 〉 KCNH2 〈 /i 〉 ( 〈 i 〉 NM_000238.3 〈 /i 〉 ), 3 on 〈 i 〉 KCNQ1 〈 /i 〉 ( 〈 i 〉 NM_000218.2 〈 /i 〉 ), and 4 on 〈 i 〉 SCN5A 〈 /i 〉 ( 〈 i 〉 NM_198056.2 〈 /i 〉 )] were identified in AMI_VA patients. Only 5 ( 〈 i 〉 KCNH2 〈 /i 〉 : c.2690A & #x3e;C; 〈 i 〉 KCNQ1 〈 /i 〉 : c.1927G & #x3e;A, c.1343delC; 〈 i 〉 SCN5A 〈 /i 〉 : c.1673A & #x3e;G, c.3578G & #x3e;A) of them are missense variants. Two ( 〈 i 〉 KCNQ1 〈 /i 〉 : c.1343delC and 〈 i 〉 SCN5A 〈 /i 〉 : c.3578G & #x3e;A) of the missense variants were predicted to be clinically pathogenic. All these variants were further genotyped in an AMI without VA group. The association study identified a statistically significant difference in genotype frequency of 〈 i 〉 KCNH2 〈 /i 〉 : c.1539C & #x3e;T and 〈 i 〉 KCNH2 〈 /i 〉 : c.1467C & #x3e;T between the AMI and AMI_VA groups. Moreover, 2 rare variants ( 〈 i 〉 KCNQ1 〈 /i 〉 : c.1944C & #x3e;T and 〈 i 〉 SCN5A 〈 /i 〉 : c.3621C & #x3e;T) showed an elevated allelic frequency (more than 1.5-fold) in the AMI_VA group when compared to the AMI group. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 Twelve variants (predicting from benign/VUS to pathogenic) were identified on 〈 i 〉 KCNH2 〈 /i 〉 , 〈 i 〉 KCNQ1 〈 /i 〉 , and 〈 i 〉 SCN5A 〈 /i 〉 in patients with AMI_VA. Genotype frequency comparison between AMI_VA and AMI identified 2 significant common variants on 〈 i 〉 KCNH2 〈 /i 〉 . Meanwhile, the allelic frequency of 2 rare variants on 〈 i 〉 KCNQ1 〈 /i 〉 and 〈 i 〉 SCN5A 〈 /i 〉 , respectively, were identified to be enriched in AMI_VA, although there was no statistical significance. The present study suggests that the ion-channel genes 〈 i 〉 KCNH2 〈 /i 〉 , 〈 i 〉 KCNQ1 〈 /i 〉 , and 〈 i 〉 SCN5A 〈 /i 〉 may contribute to the pathogenesis of VA during AMI.
    Type of Medium: Online Resource
    ISSN: 0008-6312 , 1421-9751
    URL: Article
    DOI: 10.1159/000502833
    RVK:
    XA 36200
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2020
    detail.hit.zdb_id: 1482041-9
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  • 3
    Online Resource
    Online Resource
    Clinical and Experimental Study of High Mobility Group Box-2 and Valvular Calcification in Elderly Patients with Degenerative Heart Valve Disease
    S. Karger AG ; 2023
    In:  Cardiology Vol. 148, No. 3 ( 2023), p. 271-277
    Details
    In: Cardiology, S. Karger AG, Vol. 148, No. 3 ( 2023), p. 271-277
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 The aim of this study was to investigate the relationship between the high mobility group box-2 (HMGB2) and valve calcification in senile degenerative heart valve disease (SDHVD). 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 According to the echocardiographic results, patients with calcified heart valves were used as the experimental group and patients without calcified heart valves were used as the control group; blood was drawn for testing, and serum levels of HMGB2 were measured by an enzyme-linked immunosorbent assay. Human heart valve interstitial cells (hVICs) cultured in vitro were randomly divided into two groups. The calcification group was cultured with a medium containing calcification induction solution and cells were induced on days 1, 3, and 5, and the control group was cultured with a standard medium. Expression of bone morphogenetic protein 4 (BMP-4) and HMGB2 in both groups was detected by Western blot. RT-PCR was performed to detect the expression of the HMGB2 gene during calcification. The hVICs were cultured in vitro for 4 days with different concentrations of exogenous HMGB2 (0.01 μg/mL, 0.1 μg/mL, 1 μg/mL, 2 μg/mL), while the control group was cultured with a standard medium and the expression of BMP-4 and NF-κB P65 was detected by Western blot. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The serum level of HMGB2 was 7.90 (5.92, 12.39) μg/L, higher than that of 7.06 (5.06, 9.73) μg/L in the valve calcification group in elderly patients with degenerative valve disease ( 〈 i 〉 p 〈 /i 〉 = 0.005); the differences were statistically significant. In in vitro experiments, the cellular calcification protein BMP-4 and the HMGB2 protein were higher in the calcification group compared to the control group ( 〈 i 〉 p 〈 /i 〉 & lt; 0.05). Exogenous stimulation of hVICs with HMGB2 was able to upregulate the expression of BMP-4 and NF-κB P65 ( 〈 i 〉 p 〈 /i 〉 & lt; 0.05). 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 HMGB2 is correlated with valvular calcification in senile degenerative heart valve disease. The HMGB2 protein may promote the process of SDHVD valve calcification by activating the NF-κB pathway and upregulating the expression of BMP-4.
    Type of Medium: Online Resource
    ISSN: 0008-6312 , 1421-9751
    URL: Article
    DOI: 10.1159/000529973
    RVK:
    XA 36200
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2023
    detail.hit.zdb_id: 1482041-9
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  • 4
    Online Resource
    Online Resource
    Drug-Induced Hospital-Acquired Acute Kidney Injury in China: A Multicenter Cross-Sectional Survey
    S. Karger AG ; 2021
    In:  Kidney Diseases Vol. 7, No. 2 ( 2021), p. 143-155
    Details
    In: Kidney Diseases, S. Karger AG, Vol. 7, No. 2 ( 2021), p. 143-155
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 Drug-induced acute kidney injury (D-AKI) is one of the important types of AKI. The incidence of D-AKI in China has rarely been studied. 〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 This study aims to explore the disease burden, related drugs, and risk factors of D-AKI. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 A nationwide cross-sectional survey was conducted in adult patients from 23 academic hospitals in 17 provinces in China. Suspected AKI was screened based on serum creatinine changes in accordance with the 2012 Kidney Disease: Improving Global Outcomes Clinical Practice Guideline for AKI, patients who met the diagnosis of hospital-acquired AKI in January and July of 2014 were defined. Suspected AKI was firstly evaluated for the possibility of D-AKI by pharmacists using the Naranjo Scale and finally defined as D-AKI by nephrologists through reviewing AKI clinical features. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Altogether 280,255 hospitalized patients were screened and 1,960 cases were diagnosed as hospital-acquired AKI, among which 735 cases were defined as having D-AKI (37.50%, 735/1,960) with an in-hospital mortality rate of 13.88% and 54.34% of the survivors did not achieve full renal recovery. 1,642 drugs were related to AKI in these patients. Anti-infectives, diuretics, and proton pump inhibitors were the top 3 types of drugs relevant to D-AKI, accounting for 66.63% cumulatively. Besides age, AKI staging, severe disease, hypoalbuminemia, plasma substitute, and carbapenem related D-AKI were independent risk factors for in-hospital mortality of D-AKI patients. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 In China, D-AKI has caused a substantial medical burden. Efforts should be made to pursue nephrotoxic drug stewardship to minimize attributable risk and improve the prevention, diagnosis, and treatment of D-AKI.
    Type of Medium: Online Resource
    ISSN: 2296-9381 , 2296-9357
    URL: Article
    DOI: 10.1159/000510455
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2021
    detail.hit.zdb_id: 2817963-8
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  • 5
    Online Resource
    Online Resource
    Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles
    S. Karger AG ; 2017
    In:  Cardiology Vol. 138, No. 1 ( 2017), p. 41-54
    Details
    In: Cardiology, S. Karger AG, Vol. 138, No. 1 ( 2017), p. 41-54
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 This study was designed to identify the pathogenic mutation in a Chinese family with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using whole genome sequencing (WGS). 〈 b 〉 〈 i 〉 Methods and Results: 〈 /i 〉 〈 /b 〉 Probands II:1 and II:2 underwent routine examinations for diagnosis. Genomic DNA was extracted from the peripheral blood of family members and analyzed using WGS. A total of 60,285 single-nucleotide polymorphisms (SNP) and 13,918 insertions/deletions (InDel) occurring in the exonic regions of genes and predisposing to cardiomyopathies and arrhythmias were identified. When filtered using the 1000 Genomes Project (2014 version), NHLBI ESP6500, and ExAC databases, 12 missense SNP and 2 InDel in exonic regions remained, the allele frequencies of which were 〈 0.01 or unknown. The potentially pathogenic mutations that occurred in the genes DSG2, PKP4, PRKAG2, FOXD4, CTTN, and DMD, which were identified by SIFT or PolyPhen-2 software as “damaging,” were validated using Sanger sequencing. Probands II:1 and II:2 shared an extremely rare homozygous mutation in the DSG2 (p.F531C) gene, which was also demonstrated using intersection analysis of WGS data from probands II:1 and II:2. Electron microscopy and histological staining of myocardial biopsies showed widened and destroyed intercalated discs, and interrupted, atrophic, and disarranged myocardial fibers, and hyperplastic interstitial fibers, collagen fibers, and adipocytes were infiltrated and invaded. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 A homozygous mutation of DSG2 p.F531C was identified as the pathogenic mutation in patients with ARVC/D involving both ventricles, as a result of widened and impaired intercalated discs, interrupted myocardial fibers, and abnormally hyperplastic interstitial fibers, collagen fibers, and adipocytes.
    Type of Medium: Online Resource
    ISSN: 0008-6312 , 1421-9751
    URL: Article
    DOI: 10.1159/000462962
    RVK:
    XA 36200
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2017
    detail.hit.zdb_id: 1482041-9
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  • 6
    Online Resource
    Online Resource
    Inhibition of PTEN Activity Aggravates Post Renal Fibrosis in Mice with Ischemia Reperfusion-Induced Acute Kidney Injury
    S. Karger AG ; 2017
    In:  Cellular Physiology and Biochemistry Vol. 43, No. 5 ( 2017), p. 1841-1854
    Details
    In: Cellular Physiology and Biochemistry, S. Karger AG, Vol. 43, No. 5 ( 2017), p. 1841-1854
    Abstract: Background: Renal fibrosis is a common pathophysiological feature of chronic kidney disease. Acute kidney injury (AKI) is defined as an independent causal factor of chronic kidney disease, with a pathological representation of post renal fibrosis. However, the etiopathogenesis underlying post renal fibrosis induced by AKI is not completely understood. Methods: BALB/c mice were treated with bpv or vehicle controls and were, respectively, the ischemia reperfusion (IR) model group and control group. All of the animals had blood taken from the orbital venous plexus at 24 hours after IR. Six mice in each group were randomly chosen and euthanized 7 days after IR treatment, and the remaining six mice in each group were euthanized 14 days after IR treatment. We examined the effect on post kidney fibrosis of inhibiting PTEN activity in mice in an IR induced AKI experimental model. Results: Compared with vehicle mice, bpv-(PTEN specific inhibitor) treated mice accumulated more bone marrow-derived fibroblasts and myofibroblasts in the kidneys. Inhibition of PTEN activity increased the expression of α-smooth muscle actin and extracellular matrix proteins and post kidney fibrosis. Furthermore, inhibition of PTEN activity resulted in more inflammatory cytokines in the kidneys of mice subjected to IR-induced renal fibrosis. Moreover, inhibition of PTEN activity up-regulated PI3K protein expression and Akt phosphorylation. Conclusions: Our study demonstrated that PTEN played an important role in post renal fibrosis in mice with ischemia reperfusion-induced AKI. These results indicated that the PTEN/PI3K/Akt signaling pathway may serve as a novel therapeutic target for AKI-induced chronic kidney disease.
    Type of Medium: Online Resource
    ISSN: 1015-8987 , 1421-9778
    URL: Article
    DOI: 10.1159/000484070
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2017
    detail.hit.zdb_id: 1482056-0
    SSG: 12
    SSG: 15,3
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