To investigate the pathogenic mechanisms of a patient with type 1 diabetes mellitus (T1DM) complicated with fibrocalculous pancreatic diabetes at Tianjin Medical University General Hospital Airport Site in June 2024, clinical and genetic characteristic analyses were performed. Potential pathogenic genes were screened by whole-exome sequencing (WES), and Sanger sequencing validated the identified genetic variants within the family. The proband exhibited elevated blood glucose levels and positivity for tyrosine phosphatase antibodies, suggesting a diagnosis of T1DM. Multiple calcifications in the pancreas were observed in the proband. Genetic testing revealed that the proband carried two variants in the serine peptidase inhibitor Kazal type 1 (SPINK1) gene, namely, c.194+2T>C and c.-215G>A. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the c.194+2T>C mutation is preliminarily classified as pathogenic, while the c.-215G>A variant is classified as a variant of uncertain significance (VUS). Bioinformatics analysis indicated that the c.194+2T>C variant in the SPINK1 gene results in a truncated protein, affecting the three-dimensional structure and activity of the protein. This mutation is in complete linkage disequilibrium with the c.-215G>A variant, which may have a protective function and influence the clinical phenotype. Given that the patient also has T1DM and FCPD, there should be increased awareness of the co-occurrence of both types of diabetes to prevent misdiagnosis and underdiagnosis.

To investigate the pathogenic mechanisms of a patient with type 1 diabetes mellitus (T1DM) complicated with fibrocalculous pancreatic diabetes at Tianjin Medical University General Hospital Airport Site in June 2024, clinical and genetic characteristic analyses were performed. Potential pathogenic genes were screened by whole-exome sequencing (WES), and Sanger sequencing validated the identified genetic variants within the family. The proband exhibited elevated blood glucose levels and positivity for tyrosine phosphatase antibodies, suggesting a diagnosis of T1DM. Multiple calcifications in the pancreas were observed in the proband. Genetic testing revealed that the proband carried two variants in the serine peptidase inhibitor Kazal type 1 (SPINK1) gene, namely, c.194+2T>C and c.-215G>A. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the c.194+2T>C mutation is preliminarily classified as pathogenic, while the c.-215G>A variant is classified as a variant of uncertain significance (VUS). Bioinformatics analysis indicated that the c.194+2T>C variant in the SPINK1 gene results in a truncated protein, affecting the three-dimensional structure and activity of the protein. This mutation is in complete linkage disequilibrium with the c.-215G>A variant, which may have a protective function and influence the clinical phenotype. Given that the patient also has T1DM and FCPD, there should be increased awareness of the co-occurrence of both types of diabetes to prevent misdiagnosis and underdiagnosis.

Objective:To investigate the influencing factors of hyperuricemia(HUA) and explore early intervention of metabolic diseases.Methods:A total of 70 523 participants were selected from the database of check-ups in 2016. Univariate analysis and logistic regression analysis were used to identify related factors of HUA. Correspondence analysis was performed for the aggregation of different levels of uric acid(UA) and related factors. The mediating effect of mean blood pressure(MBP) between abnormal metabolic indicators and abnormal renal function was tested.Results:The age, sex, occupation, body mass index(BMI), systolic blood pressure, diastolic blood pressure, blood urea nitrogen(BUN), creatinine(Cr), estimated glomerular filtration rate(eGFR), fasting plasma glucose(FPG), total cholesterol(TC), triacylglycerol(TG), high density lipoprotein-cholesterol(HDL-C), low density lipoprotein-cholesterol, plasma viscosity were significantly related to HUA( P<0.001). Logistic regression analysis showed that youth, male, hypertension, TC, TG, and Cr were risk factors for HUA, while HDL-C was a protective factor for HUA( P<0.001). Correspondence analysis showed that during the gradual increase of UA, TC was the first to appear abnormal, followed by hypertension and TG, and the increase of Cr appeared last. Mediating effect showed that in changes of UA, the mediating effects of MBP on TC, TG, and HDL-C were 36.35%, 12.63%, and 9.41%, respectively. In changes of eGFR, the mediating effects of MBP on TC, TG and HDL-C were 30.20%, 27.70%, and 6.13%, respectively. Conclusions:UA is positively correlated with blood pressure, TC, and TG, and inversely with HDL-C. TC and TG have an impact on renal impairment, in which MBP plays a mediating role.

Objective To construct several human proinsulin mutants plasmid related to diabetes and to express in INS-1 (Insulin secreting beta cell derived line) cell. Methods Human mild proinsulin gene was used as template , and site-directed mutagenesis PCR was employed to generate four human proinsulin plasmid mutants. Each mutant plasmid was sequenced then transfected with empty plasmid and mild plasmid into INS-1 cell by liposome 2000. Insulin value in each cell solution was determined by radioimmunoassay. Results Proinsulin mutants plasmid were confirmed by sequencing. In-sulin values in culture solution of H-C(B19)G、H-L(B11)P、H-R(S6)C mutants are less than those in wild type and H-F (B25)L(P＜0.05). Comparison of insulin values between H-C(B19)G、H-L(B11)P、H-R(S6)C groups were not statistically significant(P>0.05), and all these three groups showed no significant differences with empty plasmid group statistically (P>0.05).Insulin value of H-F(B25)L was of no significant differences statistically with empty plasmid(P>0.05). Conclu-sion Four human proinsulin mutants plasmid were constructed and expressed successfully in INS-1 cell, and different mu-tants plasmid result in diabetes through different mechanism.

Objective To evaluate the value of MR in the diagnosis of primary splenic lymphoma (PSL).Methods The MR imaging features of 3 PSL cases proved by pathology were retrospectively reviewed. Results Three cases were all pathologically diagnosed as B-cell non-Hodgkin's lymphoma(NHL). Two cases were multiple node shape and one was massive shape. Unenhanced MR imaging revealed heterogeneous splenic enlargement, with large nodules showing iso-hyperinternse on T1WI and hypointense on T2WI. Linear hyperintense on T1WI and T2WI was seen on the spleen peripherous. The spleen vascular was infiltrated. CE-MRI showed heterogeneous enhancement of spleen with iso-hypointense. The focus of postperitoneal showed medial enhancement. Immunohistochemistry-showed 2 cases of diffuse B cell. The CD20 and CD19 α of tumor cell showed diffuse( + ) ,CD3 ,CD5 individual( + ) ,CD43 ( + ) ,CD45RO( + ), CD10 ( +/- ), Mum ( + ), MAC387 individual ( + ), 1 case of B lymphocell type, CD79α ( + ) ,CD23( + ) ,CD38( + ) ,λ( + ). Conclusion The MR imaging features of PSL were characteristic and helpful in the diagnosis of PSL, but the correct diagnosis was still dependent on the pathology and immunohistochemical staining.

Two hundred and four patients with diabetic nephropathy and depressive disorder were randomly assigned to the control group (40 cases), St.John's Wort extract (SWE) group(40 cases) ,SWE +psychotherapy group ( 40 cases), SWE + physicotherapy group ( 40 cases ) and SWE + psychotherapy +physicotherapy group (44 cases), all patients were treated for 12 weeks.The therapeutic effects were evaluated with Hamilton Rating Scale for Depression-17 (HAMD-17).The percentage reduction in HAMD scores in SWE + psychotherapy + physicotherapy group was the highest ( 86% ), and those for SWE, SWE +psychotherapy, SWE + physicotherapy and control groups were 47%, 55%, 60% and 13%, respectively (x2 =47.331, P =0.000).After 12 weeks of treatment, glycosylated hemoglobin(HbA1c) and urinary albumin excretion rate (UAER) were reduced in all 4 treatment groups compared with the control group.The levels of HbA1 c and UAER in SWE + psychotherapy + physicotherapy group were significantly lower than those in others ( F = 15.754,74.025, all P = 0.000).St.John' s Wort extract with psychotherapy and physicotherapy can efficiently improve the depressive disorder in type 2 diabetic patients with nephropathy, as well as control blood glucose and reduce UAER of patients.

Objective To observe the level of serum hepatocyte growth factor (HGF) in patients with impaired glucose tolerance (IGT). Methods Thirty patients with IGT (IGT group), 30 patients with type 2 diabetes mellitns (T2DM) (T2DM group) and 30 healthy controls (control group) were recruited for this study. Such indexes as HGF, fasting plasma glucose (FBG), postprandial plasma glucose (2hPG), glycosylated hemoglobin A1c( GHbA1c ), fasting insulin(FINS), systolic blood pressure(SBP), diastolic blood pressure (DBP) were examined and these related factors were analyzed. Results The levels of serum HGF in IGT group and T2DM group were higher than those in control group [(413.22 ± 102.48), (422.76 ± 126.77 ), ( 120.45 ± 25.11 ) ng/L, respectively ] (P < 0.05 ). There was no significant different between IGT group and T2DM group (P> 0.05). There was positive correlation between HGF and FBG (r = 0.326, P< 0.05 ). Multiple regression analysis indicated significant correlation between HGF and DBP (r = 4.730, P< 0.05). Conclusion Higher levels of HGF are found in IGT patients, which indicates that function of vascular endothelium is abnormal in this period.

Objective To observe the level of serum hepatocyte growth factor(HGF)in patients with hypertension(HT).Methods HGF,fasting plasma glucose(FBG),postprandial plasma glucose(2hPG),glycosylated hemoglobin A1c(HbA1c),total cholesterol(TC),triglyceride(TG),systolic blood pressure(SBP),diastolic blood pressure(DBP),body mass index(BMI)and waistline(w)were detected in 30 patients with hypertension,30 patients with hypertension complicated by type 2 diabetes mellitus(T2DM),and 30 normal controls such indexes as.Results The level of serum HGF in HT group[(413.87±90.87)ng/L],and HT+T2DM group[(413.72±98.72)ng/L]were higher than that in control group[(120.45±25.11)ng/L](P＜0.05),but there was no significance between HT group and HT+T2DM group(P＞0.05).There existed a positive correlation between HGF and FBG,SBP(r=2.273,r=5.353,P＜0.05).Conclusion Higher levels of HGF is found in patients with hypertension and hypertensin complicated with T2DM,which indicates the severity of dysfunction of vascular endothelium.

Objective To establish radioiodine therapy in nonthyroid tumor and to investigate 131Ⅰ treatment effect on xenografted ovarian cancer. Methods Based on previous test, xenografted ovarian cancer nude model were established in nude mice. The effects of radioactive isotope 99m TcO-4 imaging and radioiodine 131Ⅰ treatment on xenografted ovarian cancer in vivo were investigated. Results After transferring human sodium/iodide symporter (hNIS) gene, the xenografted ovarian cancer in nude mice was imaged by isotope 99m TcO-4 Moreover,131Ⅰ exerted inhibitory effect on the proliferative activity. Conclusion After the transfection of hNIS gene, 131Ⅰ has inhibitory effect on proliferative activity of xenografted ovarian cancer.

Objective To explore the clinical therapeutic effects of St. John's Wort exact (SWE)on depressive disorder and blood glucose in elderly type 2 diabetic patients Methods 118 patients with type 2 diabetes and depressive disorder were randomly assigned to SWE group (26 cases),lorazepam group (22 cases ), psychotherapy group (24 cases), physicotherapy group (24 cases) and control group (routine therapy,22 cases) for 12 weeks' treatment. The clinical effects were evaluated with the percentage reduction in HAMD score after the treatment, HbAlc levels were obtained to monitor glycemic control. Results (1) The percentage reduction in HAMD score in SWE group was the highest (80. 8%), and it was lower in lorazepam group ( 63. 6%), psychotherapy group (62. 5%) and physicotherapy group(58. 3%). The percent decrease in H AMD score was higher in four groups than in control group ( 18. 2%) and the difference was significant (P < 0. 01). The therapeutic effect of SWE was better than the others(P0. 05). (2) The level of HbAlc in SWE group (6.5±0. 6)% was significantly lower than the others [( 7. 5 ± 0. 8) %, (7.4 ± 0. 8) %, (7. 4 ±1.0) % (P < 0. 01 )]. Conclusions St. John' s Wort exact (SWE) can efficiently improve the depressive disorder in elderly type 2 diabetic patients, and it is good for controlling blood glucose of the patients.