1.The clinical effects of valsartan on the insulin resistance of type 2 diabetes patients with Ⅰ hypertension
Weili WU ; An ZHANG ; Juanjuan CHEN ; Yongjia LIU
Chinese Journal of Primary Medicine and Pharmacy 2010;17(9):1177-1178
Objective To investigate the effects of valsartan on insulin resistance of type 2 diabetes in patients with Ⅰ hypertension.Methods Newly diagnosed 152 patients of type 2 diabetes with Ⅰ hypertension were randomly divided into treatment group and control group.The treatment group and control group undergone lifestyle changes( diet and adequate exercise) for two weeks.After that,the control group were given Diltiazem,while the treatment group were given valsartan,an angiotensin receptor blocker(ARB) drugs.Both groups were treated for 8 weeks.Fasting plasma glucose (FPG) and fasting plasma insulin (FINS) before and after treatment in both groups were determined.Homeostasis model assessment evaluation of insulin resistance index(HOMA-IR) and insulin sensitivity index (IAI) were carried out and compared between the two groups.Results After 8 weeks of treatment,HOMA-IR in the treatment group was significantly decreased compared with the control group ( P < 0.01 ),while IAI was significantly increased( P < 0.01 ).Conclusion Application of valsartan in type 2 diabetes mellitus with Ⅰ hypertension can significantly improve the level of insulin resistance.
2.Effect of multi-slice computed tomography on typing and staging of bronchiolitis obliterans in children
Junxing CHEN ; Qingshan HONG ; Xiaoli WANG ; Yongjia FU
The Journal of Practical Medicine 2017;33(3):470-472
Objective To explore the value of multi-slice computed tomography (MSCT) on the typing and staging of bronchiolitis obliterans (BO) in children.Methods Twenty-eight BO patients were recruited and underwent X-ray and MSCT from August 2012 to August 2015.The classification of MSCT signs and radiological manifestations in different stages of BO were discussed.Results Mosaic sign and bronchial wall thickening appeared in all cases and pulmonary atelectasis in 6 patients.MSCT signs were divided into 18 cascs of simple type and 10 of pneumonic type,respectively.Radiological imaging undergone after treatment for 2 ~ 4 weeks indicated that 20 patients turned normal,but 8 patients to chronic stage,including pulmonary interstitial fibrosis (7 cases),bronchoiectasis (6 cases),calcification in bronchial distal (3 cases) and pleural adhesions (2 cases).Conclusion Mosaic sign is a distinctive MSCT manifestation for BO in early phase,and CT typing and staging contribute to guiding the treatment.
3.Correlation analysis between metabolic acidosis and cardiac valve calcification in hemodialysis patients in the Pearl River Delta Region—a multicenter cross-sectional study
Jinzhong CHEN ; Wei ZHANG ; Jianyi PAN ; Qingkun ZHENG ; Keer XIAN ; Min MO ; Wenna HE ; Yongjia LI ; Xianrui DOU
Chinese Journal of Nephrology 2021;37(2):113-120
Objective:To explore the relationship between metabolic acidosis and cardiac valve calcification in maintenance hemodialysis (MHD) patients in the Pearl River Delta Region.Methods:Patients on MHD greater than 3 months who were treated in 10 blood purification centers in the Pearl River Delta Region from July 1 to September 30, 2019 were selected for this multicenter cross-sectional study. Based on a Doppler ultrasound, MHD patients were further divided into non-valve calcification group and valve calcification group. The demographics data, frequency of dialysis, blood pressure, single pool Kt/V(spKt/V), dialysis medications and laboratory data were collected and compared. Spearman correlation analysis was used to analyze the correlation between serum carbon dioxide combining power (CO 2CP) and cardiac valve calcification. Multivariate logistic regression model was used to analyze the influencing factors of cardiac valve calcification. Results:A total of 664 MHD patients were included in this study, with age of (57.0±14.2) years old and dialysis age of 43.0 (22.3, 71.7) months, including 395 males (59.5%) and 269 females (40.5%). Among them, there were 119 patients (17.9%) with diabetes and 186 patients (28.0%) with dialysis 2 times per week. There were 329 patients (49.5%) in the valve calcification group, and 335 patients (50.5%) in the non-valve calcification group. Compared to those in non-valve calcification group, valve calcification group had longer duration of dialysis, higher proportion of patients with dialysis 2 times per week, higher levels of diastolic blood pressure, fasting blood glucose, intact parathyroid hormone and ferritin, higher proportion of patients with blood CO 2CP<19 mmol/L (median CO 2CP), higher proportion of patients on usage of calcium channel blocker, angiotensin converting enzyme inhibitor/angiotensin receptor blocker, α-receptor blocker, β-receptor blocker, calcitriol and lanthanum carbonate (all P<0.05), while the levels of spKt/V, hemoglobin, serum CO 2CP, corrected calcium, blood phosphorus, blood alkaline phosphatase, albumin, total cholesterol, triacylglycerol, low-density lipoprotein, high-density lipoprotein, transferrin saturation, and the proportion of patients on usage of sevelamer and cinacalcet were lower (all P<0.05). Spearman analysis showed significant negative correlation between serum CO 2CP and valve calcification ( rs=-0.697, P<0.001). Multivariate logistic regression analysis showed that dialysis performed twice a week ( OR=2.789, 95% CI 1.232-6.305, P=0.014), blood total cholesterol ( OR=1.449, 95% CI 1.014-2.071, P=0.042), CO 2CP<19 mmol/L ( OR=22.412, 95% CI 10.640-47.210, P<0.001) were the influencing factor of valve calcification in MHD patients. Conclusions:MHD patients with cardiac valve calcification have significant acid loading. Metabolic acidosis is an independent influencing factor for cardiac valve calcification in MHD patients.
4.A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application
Anhai CHEN ; Jie LING ; Xin PENG ; Xianlin LIU ; Shuang MAO ; Yongjia CHEN ; Mengyao QIN ; Shuai ZHANG ; Yijiang BAI ; Jian SONG ; Zhili FENG ; Lu MA ; Dinghua HE ; Lingyun MEI ; Chufeng HE ; Yong FENG
Clinical and Experimental Otorhinolaryngology 2023;16(4):342-358
Objectives:
. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing.
Methods:
. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement.
Results:
. A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband.
Conclusion
. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.