Objective: To establish a risk prediction model for diabetic peripheral neuropathy (DPN) among patients with type 2 diabetes mellitus (T2DM), so as to provide a basis for DPN prevention and control. Methods: T2DM inpatients aged 18-65 years admitted to the department of endocrinology and metabolism at Affiliated Hospital Shandong Second Medical University from April to December 2024 were selected as study subjects. Age, T2DM duration, hypertension history, 25-hydroxyvitamin D, serum C-peptide, and high density lipoprotein cholesterol (HDL-C) were collected through electronic medical records. Risk predictors of DPN among T2DM patients were screened using multivariable logistic regression model, and a nomogram was established. The receiver operating characteristic (ROC) curve, calibration curve and decision curve analysis were employed to evaluate the discrimination, calibration and clinical utility of the nomogram, respectively. Results: A total of 598 T2DM patients were enrolled, including 359 (60.03%) males and 239 (39.97%) females. The median age was 54.50 (interquartile range, 15.00) years, the median T2DM duration was 6.00 (interquartile range, 9.00) years. There were 262 cases of T2DM patients with DPN, accounting for 43.81%. Multivariable logistic regression identified hypertension history (OR=3.260, 95%CI: 2.220-4.790), alcohol use history (OR=2.150, 95%CI: 1.390-3.310), diabetes complications (OR=0.430, 95%CI: 0.270-0.680), T2DM duration (OR=1.040, 95%CI: 1.010-1.070), body mass index (OR=1.130, 95%CI: 1.070-1.200), 25-hydroxyvitamin D (OR=0.930, 95%CI: 0.910-0.960), and HDL-C (OR=0.400, 95%CI: 0.230-0.720) as risk predictors for DPN among T2DM patients. The area under the ROC curve of the established risk prediction model was 0.774 (95%CI: 0.737-0.812), with a sensitivity of 0.710 and a specificity of 0.723. The calibration curve after repeated sampling calibration approached the standard curve. Decision curve analysis showed that when the risk threshold probability was 0.2 to 0.4, the model demonstrates favorable clinical applicability. Conclusion The risk prediction model established in this study has favorable discrimination, calibration, and clinical utility, can effectively predict the risk of DPN among T2DM patients aged 18-65 years.

Objective To explore the analysis of the relationship of the serum levels of focal adhe-sion kinase(FAK)and fatty acid-binding protein 4(FABP4)with myocardial injury and cardiac function in elderly patients with acute myocardial infarction(AMI).Methods A total of 211 AMI patients admitted to our hospital from January 2020 to April 2023 were enrolled and assigned into the AMI group,while another 60 healthy volunteers who took routine physical examinations in our hospital during the same period served as the control group.The serum FAK and FABP4 lev-els were compared between the two groups.Multivariate logistic regression analysis was employed to identify influencing factors associated with AMI,and ROC curve was plotted to assess the pre-dictive efficacy of the serum FAK and FABP4 levels for AMI in the elderly population.Pearson correlation analysis was conducted to explore the relationship between serum FAK and FABP4 levels and myocardial injury as well as cardiac function.Results The AMI group exhibited signifi-cantly elevated serum FAK,FABP4,CK-MB,cTnⅠ and CK levels,and larger LVESD and LVEDD,but lower LVEF when compared with the control group(P＜0.05,P＜0.01).For the AMI patients,the serum FAK and FABP4 levels were positively correlated with CK-MB,cTnⅠ and CK levels,as well as LVESD and LVEDD,and negatively with LVEF(P＜0.05).Multivariate logistic regression analysis revealed that both serum levels of FAK(OR=2.872,95％CI:2.230-3.698,P=0.000)and FABP4(OR=2.667,95％CI:1.713-4.154,P=0.000)were influencing factors for AMI.ROC analysis indicated that the cut-off value of FAK level for diagnosing AMI was 25.60 pg/L,with an AUC value of 0.801(95％CI:0.750-0.852).Similarly,the cut-off value of FABP4 in the diagnosis was 23.22 pg/L,with an AUC value of 0.760(95％CI:0.707-0.812).Combined FAK and FABP4 levels yielded,with an AUC value of 0.899(95％CI:0.839-0.918).Conclusion Serum FAK and FABP4 levels are abnormally high in the elderly patients with AMI,which is closely related to myocardial injury and cardiac function.The two indicators alone or in combination can effectively predict the occurrence of AMI.

Objective:To investigate the effect of intravenous thrombolysis with recombinant tissue plasminogen activator (rt-PA) on sizes and components of thrombi in patients with acute ischemic stroke (AIS) after mechanical thrombectomy (MT).Methods:Ninety-eight AIS patients accepted MT in Department of Neurology, Huaian First Hospital Affiliated to Nanjing Medical University from June 2018 to June 2022 were enrolled; they were divided into bridging therapy group and direct thrombectomy group according to the treatments. Baseline data, prognoses and thrombus features between the 2 groups were compared.Results:No significant differences were observed between the 2 groups in terms of age, gender, previous medical history, baseline scores, sites and types of vascular occlusion, TOAST causative classifications, time frame, MT frequencies and techniques, successful recanalization, or prognoses 90 d after MT ( P>0.05). Compared with the direct thrombectomy group, the bridging therapy group had significantly reduced thrombus area (37[22, 78] mm 2vs. 27[14, 62] mm 2) and areas of major pathological components [red blood cells: 16.1([9.0, 37.4] mm 2vs. 11.8[6.1, 22.1] mm 2, fibrin/platelets: 19.5[9.5, 26.4] mm 2vs. 10.7[5.0, 22.8] mm 2, white blood cells: 4.0[2.2, 8.0] mm 2vs. 2.4[1.4, 5.7] mm 2, P<0.05); however, no significant differences in proportions of areas of major pathological components were noted between the 2 groups of patients ( P>0.05). Conclusion:The rt-PA intravenous thrombolysis can significantly reduce the thrombi volume and decrease the contents of major thrombus components in AIS patients after MT, but not change the proportions of major pathological components in thrombi.

Studies have shown that ABO blood group is related to the susceptibility and disease progression of SARS-CoV-2 infection, and most studies indicated that group O individuals were less likely to get infected while group A conferred a higher susceptibility to infection and propensity to severe disease. ABO blood group antigens are oligosaccharides expressed on red cells and other tissues. People with different ABO blood type have different susceptibility to a variety of pathogens, including SARS-CoV-2. There are several hypotheses to explain the differences in SARS-CoV-2 infection between ABO blood group individuals. Firstly, anti-A and/or anti-B antibodies could bind to corresponding antigens on the viral envelope and contribute to viral neutralization, thereby preventing target cell from being infected. The SARS-CoV-2 virus and SARS-CoV spike (S) proteins may be bound by anti-A isoagglutinin, which may block interactions between virus and angiotensin-converting-enzyme-2-receptor, thereby preventing entering into lung epithelial cells. Secondly, the receptor binding domain (RBD) of S protein domain can bind to antigen A expressed in respiratory epithelium and promote its infection to respiratory epithelial cells. In conclusion, most studies indicated that group O may be associated with a lower risk of SARS-CoV-2 infection while group A with a higher risk along with severe disease, and the related mechanism needs to be further studied.

OBJECTIVE: To summarize the genetic characteristics of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD). METHODS: Clinical data of the pedigrees were collected. Multiplex PCR, multiple ligation dependent probe amplification (MLPA), next generation sequencing (NGS), Sanger sequencing and long read sequencing were used to detect the variant of DMD gene in the probands and their mothers, and prenatal diagnosis was provided for high risk pregnant women. RESULTS: Among 178 pedigrees analyzed by multiplex PCR, 44 variants of the DMD gene were detected, with the genetic diagnosis attained in 110 pedigrees. Among 493 pedigrees analyzed by MLPA in combination with NGS or Sanger sequencing, 294 pathogenic/possible pathogenic variants were identified, among which 45 were unreported previously, and the genetic diagnosis attained in 484 pedigrees. Structural variants of the DMD gene were identified in two pedigrees by long-read sequencing. Among 444 probands, 341 have inherited the DMD gene variant from their mothers (76.8%). Among 390 women with a high-risk, 339 have opted to have natural pregnancy and 51 chose preimplantation genetic testing for monogenetic disease (PGT-M). The detection rate of neonatal patients and carriers following natural pregnancy was significantly higher than that for PGT-M. CONCLUSION Combined application of MLPA, NGS, Sanger sequencing and long-read sequencing is an effective strategy to detect DMD/BMD. PGT-M can effectively reduce the risk of fetuses. Above finding has expanded the spectrum of DMD gene variants and provided a basis for reproductive intervention for pregnancies with a high risk for DMD/BMD.
China ; Dystrophin/genetics* ; Exons ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation. METHODS: For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase RESULTS: For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele. CONCLUSION FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pregnancy ; Prenatal Diagnosis

Objective To evaluate an indwelling anal tube in the prevention of anastomotic leakage after laparoscopic Dixon procedure for rectal cancer.Methods From June 2015 to June 2017,71 rectal cancer patients undergoing laparoscopic Dixon procedure with the anastomotic margin to dentate line ＜ 4 cm were randomly divided into the study group (39 cases) to have an anal tube dranage and the control group (32 cases) without tube dranage.Within a week after surgery,the postoperative pressure changes in the rectum,defecation,anastomotic leakeage were monitored and observed.Results In study group postoperative intra rectal pressure at 2 h,and on days 1,2,3,4,5,6,7 were (13 ± 3),(8 ± 3),(11 ±2),(14 ±4),(16 ±3),(19 ±2),(21 ±3),(22±3) cmH2O,while in control group were (17 ±2),(11 ±3),(15 ±3),(17 ±3),(20 ±2),(22±3),(25 ±4),(26 ±2)cmH2O (all P＜ 0.05).In the study group the postoperative discharge and defecation were 1-2 days earlier than the control group.No anastomotic leakage occurred in study group,while in control group,there were 4 cases with the incidence rate of 12％,and the difference between the two groups was statistically significant (all P ＜ 0.05).Conclusion In Dixon procedure,routinely placed anal tube effectively prevent anastomotic leakage from occurring.

Objective To investigate the complications of deep brain stimulation (DBS) internal pulse generator (IPG) replacement procedures and discuss the reasons,preventive measures and treatments.Methods From 2012 to 2016,285 procedures (according to the number of replacement IPG) were performed for 211 patients in our hospital.Among them,178 patients were with Parkinson's disease,29 patients were with dystonia,3 patients were with tic disorder,and one with essential tremor.Thirty-two patients previously used Medtronic replaced with local DBS with brand of PINC and Sceneray,and the other 179 patients remained the use of Medtronic brand.Furthermore,36 patients got extension cable reimplantation along with IPG replacements.Results Replacement surgeries were divided into 3 types:IPG replacement in situ;bilateral side single-channel IPG was replaced by double-channel IPG or double-channel IPG was replaced by bilateral single-channel IPG;extended cables and IPG replacement were carried out simultaneously.The follow up period was from one to 6 years for these 211 patients,and 15 got surgical-and hardware-related complications:6 with sack hemorrhage,2 with skin erosion,one with IPG rejection,3 with adaptor fracture,and 3 with impedance abnormality were recorded;no infection was noted.Twenty-six patients got significant improvement after new IPG replacement.Conclusions DBS IPG replacement operations is a regular surgery with certain safety.Personalized surgical procedures,rigorous intraoperative operation and correct postoperative management can effectively reduce and prevent the complications of IPG replacement surgery.

Obsessive-compulsive disorder (OCD) is a chronic,disabling,mental disorder,which has been linked to significant abnormalities in certain brain areas,including the orbital frontal cortex and the anterior cingulate cortex.Neuroimaging studies have also shown that brain areas related to the decision-making function include the orbital frontal cortex and the dorsal prefrontal lobes.Furthermore,the association between OCD and decision-making function has been consistently demonstrated from a neurobiological perspective.Clinically,impaired decision-making ability is commonly observed in OCD patients,and there is a correlation between OCD and abnormal decision function.Decision-making tasks are typically divided into two types,decision-making under risk and decision-making under ambiguity,with the former commonly evaluated using the Iowa Gambling Task (IGT) and the latter using the Game of Dice Task (GDT).In this article the neural mechanism and evaluation methods of decision making in OCD were reviewed.

Specific to the existing problems of uneven distribution of resources in the medical industry,especially the shortage of grass-root high-quality medical resources,the paper introduces the construction objective,overall architecture and construction contents of regional medical collaboration,and normalizes the medical service process through informationalized technological means,in order to promote standardized construction of the regional medical information system and information interconnection and intercommunication.