1.Application and mechanism of renal tubular perilipin 2 in predicting de-cline in renal function in diabetic kidney disease patients
Rui SHEN ; Xin YU ; Caifeng SHI ; Songyan QIN ; Yi FANG ; Aiqin HE ; Xiaomei WU ; Junwei YANG ; Yang ZHOU
Chinese Journal of Pathophysiology 2024;40(5):882-889
		                        		
		                        			
		                        			AIM:To investigate whether the expression of perilipin 2(PLIN2)in renal tubular cells could predict a decline in renal function in diabetic kidney disease(DKD)patients,and to explore the potential mechanisms in-volved in renal tubular cell injury induced by PLIN2 during the progression of DKD.METHODS:Control individuals(n=12)and DKD patients(n=51)were enrolled in this retrospective cohort study.Demographic and laboratory data were col-lected.A simplified linear mixed-effects model was applied to assess the estimated glomerular filtration rate(eGFR)slope.The relationship between PLIN2 and renal function decline in DKD patients was predicted by Spearman correlation analysis and a generalized linear model.BKS-db/db diabetic mice and streptozotocin-induced diabetic mice were used.Primary renal tubular cells were treated with glucose and transfected with small interfering RNA or plasmid.Western blot-ting and immunofluorescence staining were used to detect PLIN2 expression.Lipid droplets were stained with oil red O.The oxygen consumption rate(OCR)of mitochondria was measured using an extracellular flux analyser.RESULTS:The expression of PLIN2 was markedly higher in the tubules of DKD patients than in those of control subjects.After 24(12,39)months of follow-up,the eGFR slope of DKD patients was-7.42(-19.77,-2.09)mL/(min·1.73 m2·year).An in-crease in the baseline percentage of PLIN2-positive tubules was significantly associated with the eGFR slope during the fol-low-up period[hazard ratio(HR)=1.90,95%confidence interval(CI):1.00~3.58],indicating that tubular PLIN2 could predict a decrease in renal function in DKD patients.Both the accumulation of lipid droplets and the expression of PLIN2 were markedly greater in the tubules of diabetic mice than in those of control mice.Glucose treatment induced lipid droplet accumulation and PLIN2 expression in renal tubular cells.Knockdown of PLIN2 significantly alleviated glucose-in-duced lipid droplet accumulation,whereas PLIN2 overexpression aggravated glucose-induced lipid droplet accumulation.The decrease in mitochondrial OCR in renal tubular cells induced by glucose treatment was alleviated after PLIN2 knock-down.However,overexpression of PLIN2 directly decreased the mitochondrial OCR.CONCLUSION:The PLIN2 ex-pression in tubules predicts a decline in renal function in patients with DKD.The PLIN2 suppresses mitochondrial aerobic respiration and contributes to the accumulation of lipid droplets in renal tubular cells to promote the progression of DKD.
		                        		
		                        		
		                        		
		                        	
2.First-line bevacizumab plus chemotherapy in Chinese patients with stage III/IV epithelial ovarian cancer, fallopian tube cancer or primary peritoneal cancer: a phase III randomized controlled trial
Xiaohua WU ; Jihong LIU ; Ruifang AN ; Rutie YIN ; Yu ZHANG ; Huaijun ZHOU ; Aiqin HE ; Li WANG ; Jieqing ZHANG ; Ziling LIU ; Wei DUAN ; Jianqing ZHU ; Ge LOU ; Guilin CHEN ; Ying CHENG ; Fengxia XUE ; Sonja NICK ; Haiyan WANG ; Donghang LI
Journal of Gynecologic Oncology 2024;35(5):e99-
		                        		
		                        			 Objective:
		                        			First-line bevacizumab plus carboplatin and paclitaxel (CP) is approved for stage III/IV ovarian cancer treatment following initial surgical resection, based on global phase III GOG-0218 and ICON7 trials. This study evaluated the efficacy and safety of bevacizumab + CP as first-line ovarian cancer therapy in Chinese patients. 
		                        		
		                        			Methods:
		                        			Patients with newly diagnosed, International Federation of Gynecology and Obstetrics (FIGO) stage III/IV epithelial ovarian, fallopian tube, or primary peritoneal cancer post-primary surgery were randomized 1:1 to receive 6 cycles of CP with bevacizumab/ placebo, followed by bevacizumab/placebo maintenance until unacceptable toxicity or disease progression. Primary endpoint was investigator-assessed progression-free survival (PFS). Stratification factors were FIGO stage and debulking status (stage III optimally debulked vs stage III suboptimally debulked vs stage IV) and Eastern Cooperative Oncology Group performance status (0 vs 1 or 2). 
		                        		
		                        			Results:
		                        			Of randomized patients, 51 received bevacizumab + CP and 49 received placebo + CP. Median PFS was 22.6 months with bevacizumab + CP (95% confidence interval [CI]=18.6, not estimable) and 12.3 months (95% CI=9.5, 15.0) with placebo + CP (stratified hazard ratio=0.30; 95% CI=0.17, 0.53). Treatment-related grade 3/4 adverse events occurred in 46 of 49 (94%) patients receiving bevacizumab + CP, and 34 of 50 (68%) receiving placebo + CP. 
		                        		
		                        			Conclusion
		                        			Bevacizumab + CP showed clinically meaningful improvement in PFS vs placebo + CP, consistent with GOG-0218 results. Safety data were aligned with the known bevacizumab safety profile. These results support first-line bevacizumab + CP therapy in Chinese patients with ovarian cancer. 
		                        		
		                        		
		                        		
		                        	
3.First-line bevacizumab plus chemotherapy in Chinese patients with stage III/IV epithelial ovarian cancer, fallopian tube cancer or primary peritoneal cancer: a phase III randomized controlled trial
Xiaohua WU ; Jihong LIU ; Ruifang AN ; Rutie YIN ; Yu ZHANG ; Huaijun ZHOU ; Aiqin HE ; Li WANG ; Jieqing ZHANG ; Ziling LIU ; Wei DUAN ; Jianqing ZHU ; Ge LOU ; Guilin CHEN ; Ying CHENG ; Fengxia XUE ; Sonja NICK ; Haiyan WANG ; Donghang LI
Journal of Gynecologic Oncology 2024;35(5):e99-
		                        		
		                        			 Objective:
		                        			First-line bevacizumab plus carboplatin and paclitaxel (CP) is approved for stage III/IV ovarian cancer treatment following initial surgical resection, based on global phase III GOG-0218 and ICON7 trials. This study evaluated the efficacy and safety of bevacizumab + CP as first-line ovarian cancer therapy in Chinese patients. 
		                        		
		                        			Methods:
		                        			Patients with newly diagnosed, International Federation of Gynecology and Obstetrics (FIGO) stage III/IV epithelial ovarian, fallopian tube, or primary peritoneal cancer post-primary surgery were randomized 1:1 to receive 6 cycles of CP with bevacizumab/ placebo, followed by bevacizumab/placebo maintenance until unacceptable toxicity or disease progression. Primary endpoint was investigator-assessed progression-free survival (PFS). Stratification factors were FIGO stage and debulking status (stage III optimally debulked vs stage III suboptimally debulked vs stage IV) and Eastern Cooperative Oncology Group performance status (0 vs 1 or 2). 
		                        		
		                        			Results:
		                        			Of randomized patients, 51 received bevacizumab + CP and 49 received placebo + CP. Median PFS was 22.6 months with bevacizumab + CP (95% confidence interval [CI]=18.6, not estimable) and 12.3 months (95% CI=9.5, 15.0) with placebo + CP (stratified hazard ratio=0.30; 95% CI=0.17, 0.53). Treatment-related grade 3/4 adverse events occurred in 46 of 49 (94%) patients receiving bevacizumab + CP, and 34 of 50 (68%) receiving placebo + CP. 
		                        		
		                        			Conclusion
		                        			Bevacizumab + CP showed clinically meaningful improvement in PFS vs placebo + CP, consistent with GOG-0218 results. Safety data were aligned with the known bevacizumab safety profile. These results support first-line bevacizumab + CP therapy in Chinese patients with ovarian cancer. 
		                        		
		                        		
		                        		
		                        	
4.First-line bevacizumab plus chemotherapy in Chinese patients with stage III/IV epithelial ovarian cancer, fallopian tube cancer or primary peritoneal cancer: a phase III randomized controlled trial
Xiaohua WU ; Jihong LIU ; Ruifang AN ; Rutie YIN ; Yu ZHANG ; Huaijun ZHOU ; Aiqin HE ; Li WANG ; Jieqing ZHANG ; Ziling LIU ; Wei DUAN ; Jianqing ZHU ; Ge LOU ; Guilin CHEN ; Ying CHENG ; Fengxia XUE ; Sonja NICK ; Haiyan WANG ; Donghang LI
Journal of Gynecologic Oncology 2024;35(5):e99-
		                        		
		                        			 Objective:
		                        			First-line bevacizumab plus carboplatin and paclitaxel (CP) is approved for stage III/IV ovarian cancer treatment following initial surgical resection, based on global phase III GOG-0218 and ICON7 trials. This study evaluated the efficacy and safety of bevacizumab + CP as first-line ovarian cancer therapy in Chinese patients. 
		                        		
		                        			Methods:
		                        			Patients with newly diagnosed, International Federation of Gynecology and Obstetrics (FIGO) stage III/IV epithelial ovarian, fallopian tube, or primary peritoneal cancer post-primary surgery were randomized 1:1 to receive 6 cycles of CP with bevacizumab/ placebo, followed by bevacizumab/placebo maintenance until unacceptable toxicity or disease progression. Primary endpoint was investigator-assessed progression-free survival (PFS). Stratification factors were FIGO stage and debulking status (stage III optimally debulked vs stage III suboptimally debulked vs stage IV) and Eastern Cooperative Oncology Group performance status (0 vs 1 or 2). 
		                        		
		                        			Results:
		                        			Of randomized patients, 51 received bevacizumab + CP and 49 received placebo + CP. Median PFS was 22.6 months with bevacizumab + CP (95% confidence interval [CI]=18.6, not estimable) and 12.3 months (95% CI=9.5, 15.0) with placebo + CP (stratified hazard ratio=0.30; 95% CI=0.17, 0.53). Treatment-related grade 3/4 adverse events occurred in 46 of 49 (94%) patients receiving bevacizumab + CP, and 34 of 50 (68%) receiving placebo + CP. 
		                        		
		                        			Conclusion
		                        			Bevacizumab + CP showed clinically meaningful improvement in PFS vs placebo + CP, consistent with GOG-0218 results. Safety data were aligned with the known bevacizumab safety profile. These results support first-line bevacizumab + CP therapy in Chinese patients with ovarian cancer. 
		                        		
		                        		
		                        		
		                        	
5.Chlorella sp.-ameliorated undesirable microenvironment promotes diabetic wound healing.
Hangyi WU ; Pei YANG ; Aiqin LI ; Xin JIN ; Zhenhai ZHANG ; HuiXia LV
Acta Pharmaceutica Sinica B 2023;13(1):410-424
		                        		
		                        			
		                        			Chronic diabetic wound remains a critical challenge suffering from the complicated negative microenvironments, such as high-glucose, excessive reactive oxygen species (ROS), hypoxia and malnutrition. Unfortunately, few strategies have been developed to ameliorate the multiple microenvironments simultaneously. In this study, Chlorella sp. (Chlorella) hydrogels were prepared against diabetic wounds. In vitro experiments demonstrated that living Chlorella could produce dissolved oxygen by photosynthesis, actively consume glucose and deplete ROS with the inherent antioxidants, during the daytime. At night, Chlorella was inactivated in situ by chlorine dioxide with human-body harmless concentration to utilize its abundant contents. It was verified in vitro that the inactivated-Chlorella could supply nutrition, relieve inflammation and terminate the oxygen-consumption of Chlorella-respiration. The advantages of living Chlorella and its contents were integrated ingeniously. The abovementioned functions were proven to accelerate cell proliferation, migration and angiogenesis in vitro. Then, streptozotocin-induced diabetic mice were employed for further validation. The in vivo outcomes confirmed that Chlorella could ameliorate the undesirable microenvironments, including hypoxia, high-glucose, excessive-ROS and chronic inflammation, thereby synergistically promoting tissue regeneration. Given the results above, Chlorella is considered as a tailor-made therapeutic strategy for diabetic wound healing.
		                        		
		                        		
		                        		
		                        	
6.Current status of hospital infection management in psychiatric hospitals in the Ningxia Hui Autonomous Region
Xuebing XU ; Gaofeng CHANG ; Aiqin MA ; Jingyue HUANG ; Hong JIANG ; Lei XIE ; Jia WU ; Yongkun LU
Sichuan Mental Health 2022;35(1):37-41
		                        		
		                        			
		                        			ObjectiveTo investigate current status of hospital infection management in psychiatric hospitals in the Ningxia Hui Autonomous Region, so as to provide references for improving the level of hospital infection management of psychiatric hospitals. MethodsIn December 2020, on-site supervision was conducted on hospital infection management in all 9 psychiatric hospitals in the Ningxia Hui Autonomous Region, meantime, the self-compiled questionnaire on hospital infection management status was used for investigation. ResultsAmong the selected hospitals, nine (100.00%) psychiatric hospitals had the main hospital leaders in charge of hospital infection management, five (55.56%) hospitals had established a hospital infection management committee, six (66.67%) hospitals had established an independent hospital infection management department, and one (11.11%) hospital had developed all 13 systems mentioned in the questionnaire related to hospital infection management and job responsibilities. In terms of hospital infection management staff, there were 23 staff members in the nine psychiatric hospitals, including 3 in the specialty (13.04%) and 20 in the part-time setting (86.96%). The score of the implementation of the basic system of hospital infection management in nine hospitals was (3.28±2.22). ConclusionThe system specification related to hospital infection management in the Ningxia Hui Autonomous Region psychiatric hospitals needs to be improved and further strengthened, the professionalism of hospital infection management personnel needs to be improved. 
		                        		
		                        		
		                        		
		                        	
7.Correlation between socioeconomic status and diabetic kidney disease
Caifeng SHI ; Aiqin HE ; Xiaomei WU ; Jin LIU ; Yuting SHENG ; Xueting ZHU ; Junwei YANG ; Yang ZHOU
Clinical Medicine of China 2022;38(3):228-236
		                        		
		                        			
		                        			Objective:To explore the correlation between socioeconomic status (SES) and diabetic kidney disease (DKD) in patients with type 2 diabetes (T2D).Methods:A total of 276 T2D patients admitted to the Second Affiliated Hospital of Nanjing Medical University from January to June 2020 were enrolled in this cross-sectional study. The estimated glomerular filtration rate (eGFR) was calculated according to the urinary albumin/creatinine ratio (UACR) and the chronic kidney disease epidemiology collaboration equation(CKD-EPI formula) based on serum creatinine. The patients were divided into simple T2D group (184 cases) and DKD group (92 cases). Collect demographic and laboratory examination data, record education, income and occupation, and calculate standardized SES scores. According to SES scores, subjects were divided in three levels: SES≤9, SES≥10-≤12, and SES≥13. Student's t test was used for comparison of measurement data with normal distribution between two groups, and one-way ANOVA was used for comparison between multiple groups. Non-normal distribution was represented by M( Q1, Q3), and rank-sum test was used for comparison between groups. Counting data were expressed as frequency or percentage, and chi-square test was used for comparison between groups. Bofferoni test was further used for pairwise comparison of indicators with statistical significance among multiple groups. Spearman correlation analysis was used to analyze the correlation between variables. The risk factors were analyzed by binary Logistic regression. Results:The age of the subjects was (53.37±10.68) years, men accounted for 55.8% (154/276), the duration of diabetes was 60.00 (12.00, 134.00) months, and eGFR was (97.56±21.15) mL/(min·1.73 m 2). In simple T2D group and DKD group, prevalence of hypertension were 39.7% (73/184) and 57.6% (53/92), systolic blood pressure were (129.43±14.92) mmHg and (139.29±17.61) mmHg, diastolic blood pressure were (81.86±10.06) mmHg and (87.74±11.19) mmHg, serum albumin were (45.74±4.15) g/L and (43.99±5.05) g/L, triglycerides were (1.82±1.24) mmol/L and (2.64±2.92) mmol/L, high density lipoprotein cholesterol were (1.17±0.37) mmol/L and (1.07±0.26) mmol/L, serum uric acid were (298.44±90.73) μmol/L and (336.22±94.01) μmol/L, serum creatinine were (62.83±14.45) μmol/L and (87.75±57.37) μmol/L, eGFR were (102.6±14.28) mL/(min·1.73 m 2) and (87.47±28.04) mL/(min·1.73 m 2), UACR were (7.60 (4.63, 13.15)) mg/g and (93.95 (47.25, 310.25)) mg/g. Prevalence of hypertension, systolic blood pressure, diastolic blood pressure, triglycerides, serum uric acid, serum creatinine, UACR in DKD group were higher than those in simple T2D group. Serum albumin, high density lipoprotein cholesterol and eGFR in DKD group were lower than those in simple T2D group. There was significant difference between the two groups ( χ2=7.95, t values were 4.87, 4.40, 3.04, 3.26, 2.30, 3.22, 5.56, 5.95, Z=13.07, P values were 0.005, <0.001, <0.001, 0.003, 0.001, 0.022, 0.001, <0.001, <0.001, and <0.001, respectively). The number of males in the three groups with SES ≥13 group, SES≥10-≤12 group, SES ≤9 group were 61 (81.3%, 61/75), 55 (59.8%, 55/92), 38 (34.9%, 38/109), respectively. The number of cases with smoking history were 42 (56.0%, 42/75), 41 (44.6%, 41/92), 35 (32.1%, 35/109), respectively. The number of cases with drinking history were 38 (50.7%, 38/75), 32 (34.8%, 32/92), 26 (23.9%, 26/109), respectively. The ages were (47.77±10.76), (52.76±11.22), (57.74±7.96) years old, respectively. Body mass index (BMI) were (26.17±3.87), (24.96±3.93), (24.27±4.89) kg/m 2, respectively. High density lipoprotein cholesterol (HDL) were (1.03±1.03), (1.16±0.41), (1.21±0.32) mmol/L, respectively. Serum uric acid were (336.56±82.05), (293.78±94.78), (307.99±96.53) μmol/L, respectively. EGFR were (105.03±19.72), (99.77±19.44), (90.57±21.49) mL/(min·1.73 m 2),respectively.The difference between groups were statistically significant (χ 2=39.79, 10.55, 14.08, F=22.69, 4.03, 6.20, 4.53, 12.02, P values were <0.001, 0.005, 0.001, <0.001, 0.019, 0.002, 0.012, and <0.001, respectively). Pairwise comparison shows that male and eGFR in SES ≤9 group were lower than those in SES ≥13 group and SES≥10-≤12 group, age in SES ≤9 group was higher than that in SES ≥13 group and SES≥10-≤12 group. The difference was statistically significant (all P<0.05). Smoking history, alcohol history and BMI in SES ≤9 group were lower than those in SES ≥13 group, and the high density lipoprotein cholesterol in SES ≤9 were higher than that in SES ≥13 group. The difference was statistically significant (all P<0.05). Male, alcohol history and serum uric acid in SES≥10-≤12 group were lower than those in SES ≥13 group, and age and high density lipoprotein cholesterol in SES≥10-≤12 group were higher than those in SES ≥13 group. The difference was statistically significant (all P<0.05). Spearman correlation analysis showed that SES in T2D was positively correlated with male, smoking history, alcohol history, BMI, serum uric acid and eGFR ( r values were 0.38, 0.20, 0.24, 0.16, 0.13 and 0.31, P values were <0.001, 0.001, <0.001, 0.008, 0.028, and <0.001, respectively), and negatively correlated with age, high density lipoprotein cholesterol and UACR ( r values were -0.35, -0.24 and -0.14, P values were <0.001, <0.001, and 0.017, respectively). Logistic regression analysis showed that SES (OR=2.71,95% CI:1.10-6.68, P=0.031) was associated with T2DM combined with DKD. The risk of developing DKD increased when the SES was ≤9. Conclusion:The SES in patients with type 2 diabetes is closely related to DKD. Low SES may be a new risk factor for DKD in type 2 diabetic patients.
		                        		
		                        		
		                        		
		                        	
8.Mediating effect of professional identity between achievement motivation and scientific research ability among undergraduate nursing interns
Xiaoting WU ; Aiqin CHU ; Hailing ZHANG ; Tian ZHANG
Chinese Journal of Modern Nursing 2020;26(18):2503-2508
		                        		
		                        			
		                        			Objective:To investigate the scientific research ability of undergraduate nursing interns and to analyze the mediating effect of professional identity between achievement motivation and scientific research ability among undergraduate nursing interns.Methods:From November 2019 to December 2019, this study selected 198 nursing undergraduates interning at a ClassⅢ Grade A hospital in Hefei as subjects by convenience sampling. All nursing undergraduates were investigated with the General Information Scale, Scientific Research Ability Self-evaluation Rating Scale of Nursing Staff, Professional Identity Scale for Nurses and Achievement Motivation Scale.Results:Among those undergraduate nursing interns, the total score of scientific research ability was (59.60±22.98) with the highest score in the capacity of writing a research report and the lowest score in the capacity of generating the research idea. Multiple linear regression analysis showed that the scientific research ability of undergraduate nursing interns was influenced by the research time, annual family incomes and the professional identity which explained 71.6% of the total variance. Mediating effect test indicated an indirect effect of achievement motivation on scientific research ability of nursing undergraduates by completely taking professional identity as an intermediary variable.Conclusions:Undergraduate nursing interns have a low to moderate level of scientific research ability. Professional identity has a complete mediating effect in the effect of achievement motivation on scientific research ability which points out that hospitals and universities should take measures to improve the achievement motivation and professional identity of undergraduate nursing interns so as to promote the improvement of their scientific research abilities.
		                        		
		                        		
		                        		
		                        	
9. Application research of double low scanning technology combined with iterative reconstruction technique in CT angiography of pediatric complex congenital heart disease
Bo CHEN ; Tingting DAI ; Jianmin CHENG ; Lei XU ; Hui HE ; Qiuyan KONG ; Aiqin WU
Chinese Journal of Radiological Medicine and Protection 2018;38(7):547-551
		                        		
		                        			 Objective:
		                        			To evaluate the feasibility of CT angiography of pediatric complex congenital heart disease by using low radiation dose and low isotonic contrast agent dose combined with iDose4 iterative reconstruction technique.
		                        		
		                        			Methods:
		                        			Prospectively, a total of 57 continuous patients with suspected congenital heart disease under or equal to 2 years old in our hospital between Mar 2016 and Jan 2017 were divided into 2 groups according to the reservation number. " double low" group included 32 patients using 80 kVp, 80 mAs, Iodixanol (270 mg I/ml) and iDose4 - 4iterative reconstruction algorithm; routine group included 25 patients using 100 kVp, 100 mAs, Iopromide (370 mg I/ml) and filtered back projection algorithm. Individualized injections were taken on the weight of children and the iodine intake was calculated. CT values of left atrium, left ventricle, right atrium, right ventricle, ascending and descending aorta at the level of tracheal bifurcation, midpoint of aortic arch, pulmonary trunk, left and right pulmonary artery, pectoralis major and erector spinae on both sides as well as background noise at the level of aortic arch were measured, and signal to noise ratios (SNR) and contrast to noise ratios (CNR) were calculated. The quality of all images was evaluated subjectively. Scan length (L), volume CT dose index (CTDIvol) and dose-length-product (DLP) were recorded, and the effective dose (
		                        		
		                        	
10.Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.
Ting LU ; Meiyi LI ; Xiangmin XU ; Jun XIONG ; Cheng HUANG ; Xuelian ZHANG ; Aiqin HU ; Ling PENG ; Decheng CAI ; Leitao ZHANG ; Buling WU ; Fu XIONG
International Journal of Oral Science 2018;10(3):26-26
		                        		
		                        			
		                        			Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders. We recruited one kindred with autosomal-dominant amelogenesis imperfecta (ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders.
		                        		
		                        		
		                        		
		                        			Adult
		                        			;
		                        		
		                        			Amelogenesis Imperfecta
		                        			;
		                        		
		                        			genetics
		                        			;
		                        		
		                        			Cells, Cultured
		                        			;
		                        		
		                        			China
		                        			;
		                        		
		                        			Codon
		                        			;
		                        		
		                        			Dentin
		                        			;
		                        		
		                        			abnormalities
		                        			;
		                        		
		                        			ultrastructure
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Microsatellite Repeats
		                        			;
		                        		
		                        			Microscopy, Electron, Scanning
		                        			;
		                        		
		                        			Middle Aged
		                        			;
		                        		
		                        			Mutation, Missense
		                        			;
		                        		
		                        			Pedigree
		                        			;
		                        		
		                        			RNA
		                        			;
		                        		
		                        			analysis
		                        			;
		                        		
		                        			Transfection
		                        			;
		                        		
		                        			Whole Exome Sequencing
		                        			
		                        		
		                        	
            
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