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.

BACKGROUND: Neoadjuvant chemoradiotherapy followed by radical surgery has been a common practice for patients with locally advanced rectal cancer, but the response rate varies among patients. This study aimed to develop a ResNet-Vision Transformer based magnetic resonance imaging (MRI)-endoscopy fusion model to precisely predict treatment response and provide personalized treatment. METHODS: In this multicenter study, 366 eligible patients who had undergone neoadjuvant chemoradiotherapy followed by radical surgery at eight Chinese tertiary hospitals between January 2017 and June 2024 were recruited, with 2928 pretreatment colonic endoscopic images and 366 pelvic MRI images. An MRI-endoscopy fusion model was constructed based on the ResNet backbone and Transformer network using pretreatment MRI and endoscopic images. Treatment response was defined as good response or non-good response based on the tumor regression grade. The Delong test and the Hanley-McNeil test were utilized to compare prediction performance among different models and different subgroups, respectively. The predictive performance of the MRI-endoscopy fusion model was comprehensively validated in the test sets and was further compared to that of the single-modal MRI model and single-modal endoscopy model. RESULTS: The MRI-endoscopy fusion model demonstrated favorable prediction performance. In the internal validation set, the area under the curve (AUC) and accuracy were 0.852 (95% confidence interval [CI]: 0.744-0.940) and 0.737 (95% CI: 0.712-0.844), respectively. Moreover, the AUC and accuracy reached 0.769 (95% CI: 0.678-0.861) and 0.729 (95% CI: 0.628-0.821), respectively, in the external test set. In addition, the MRI-endoscopy fusion model outperformed the single-modal MRI model (AUC: 0.692 [95% CI: 0.609-0.783], accuracy: 0.659 [95% CI: 0.565-0.775]) and the single-modal endoscopy model (AUC: 0.720 [95% CI: 0.617-0.823], accuracy: 0.713 [95% CI: 0.612-0.809]) in the external test set. CONCLUSION The MRI-endoscopy fusion model based on ResNet-Vision Transformer achieved favorable performance in predicting treatment response to neoadjuvant chemoradiotherapy and holds tremendous potential for enabling personalized treatment regimens for locally advanced rectal cancer patients.
Humans ; Rectal Neoplasms/diagnostic imaging* ; Magnetic Resonance Imaging/methods* ; Male ; Female ; Middle Aged ; Neoadjuvant Therapy/methods* ; Aged ; Adult ; Chemoradiotherapy/methods* ; Endoscopy/methods* ; Treatment Outcome

Objective:To analyze the value of abdominal CT angiography (CTA) and three-dimensional reconstruction fusion technology for larger (2 - 5 cm) gastric submucosal tumors (SMT) in the preoperative evaluation of super minimally invasive surgery(SMIS).Methods:A retrospective study was conducted, collecting data from 20 patients with gastric SMTs measuring 2 - 5 cm in diameter who were hospitalized in the the First Medical Center of the Chinese PLA General Hospital from March 2023 to December 2024. All patients underwent abdominal CTA prior to SMIS, and three-dimensional reconstructions of the tumors were performed. Clinical data were collected to analyze the visualization of the tumors and surrounding blood vessels in the fused three-dimensional images and the corresponding surgical plans.Results:In 19 cases, the abdominal CTA and three-dimensional imaging clearly and intuitively displayed the anatomical structures surrounding the tumors and provided panoramic images of small blood vessels around the tumors, enabling the selection of appropriate surgical plans. One case required conversion to laparoscopic surgery due to the intraoperative discovery of a small artery.Conclusions:The abdominal CTA examination and gastric SMT three dimensional reconstruction before SMIS can better display the anatomical location of the tumor and its relationship with surrounding small blood vessels, which is beneficial for gastroenterologists to formulate surgical plans and facilitate the smooth progress of SMIS under endoscopy.

Objective:To analyze the value of abdominal CT angiography (CTA) and three-dimensional reconstruction fusion technology for larger (2 - 5 cm) gastric submucosal tumors (SMT) in the preoperative evaluation of super minimally invasive surgery(SMIS).Methods:A retrospective study was conducted, collecting data from 20 patients with gastric SMTs measuring 2 - 5 cm in diameter who were hospitalized in the the First Medical Center of the Chinese PLA General Hospital from March 2023 to December 2024. All patients underwent abdominal CTA prior to SMIS, and three-dimensional reconstructions of the tumors were performed. Clinical data were collected to analyze the visualization of the tumors and surrounding blood vessels in the fused three-dimensional images and the corresponding surgical plans.Results:In 19 cases, the abdominal CTA and three-dimensional imaging clearly and intuitively displayed the anatomical structures surrounding the tumors and provided panoramic images of small blood vessels around the tumors, enabling the selection of appropriate surgical plans. One case required conversion to laparoscopic surgery due to the intraoperative discovery of a small artery.Conclusions:The abdominal CTA examination and gastric SMT three dimensional reconstruction before SMIS can better display the anatomical location of the tumor and its relationship with surrounding small blood vessels, which is beneficial for gastroenterologists to formulate surgical plans and facilitate the smooth progress of SMIS under endoscopy.

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.

Background Per- and polyfluoroalkyl substances (PFAS) are a class of persistent organic pollu-tants. Industrial production and consumer use of PFAS are the primary sources of exposure in urban areas. E-waste recycling activities are also a significant source of environmental PFAS exposure. Objective To compare exposure profiles between traditional and emerging PFAS in neonatal cord blood collected from an e-waste recycling area and a general exposure area characterized by modern economic development (hereafter referred to as general exposure area). Methods Based on a birth cohort study conducted in 2018, 85 pregnant women were recruited (36 participants from an e-waste recycling area and 49 participants from a general exposure area). Neonatal cord blood was collected at delivery. Ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) was used to detect 28 common PFAS in the blood. A structured questionnaire was used to gather sociodemographic characteristics of the pregnant women. Mann-Whitney U tests were used to compare PFAS exposure levels in neonatal cord blood between the e-waste recycling area and the general exposure area. Multiple linear regression models were used to explore the influence of residing in the e-waste recycling area on neonatal PFAS exposure, with area as the independent variable and the natural logarithm of PFAS exposure levels as the dependent variable. Results A total of 22 PFAS were positive in neonatal cord blood, of which 13 congeners were 100% detectable in the samples from both areas. The median ∑PFAS exposure levels in neonatal cord blood were 14.19 ng·mL⁻¹ and 14.02 ng·mL⁻¹ for the e-waste recycling area and the general exposure area, respectively, with linear perfluorooctanoic acid (L-PFOA) showing the highest median concentration (5.49 ng·mL⁻¹ and 6.39 ng·mL⁻¹, respectively). The results of Mann-Whitney U tests showed that the median exposure levels of long-chain perfluorodecanoic acid (PFDA), perfluoroundecanoic acid (PFUnDA), perfluorododecanoic acid (PFDoDA), and perfluorotridecanoic acid (PFTrDA), as well as emerging alternatives 6:2 chlorinated polyfluorinated ether sulfonate (6:2 Cl-PFESA) and 8:2 chlorinated polyfluorinated ether sulfonate (8:2 Cl-PFESA), were higher in the e-waste recycling area than in the general exposure area. In contrast, the median exposure levels of short-chain perfluoropentanoic acid (PFPeA) and perfluorohexanoic acid (PFHxA), as well as perfluorooctanoic acid (PFOA) branched isomers, including perfluoro-6-methylheptanoic acid (iso-PFOA), perfluoro-5-methylheptanoic acid (5m-PFOA), and perfluoro-4-methylheptanoic acid (4m-PFOA), were lower in the e-waste recycling area than in the general exposure area (P<0.05). The multiple linear regression models showed that, compared to the general exposure area, neonatal cord blood in the e-waste recycling area had significantly higher exposure levels of long-chain PFDA, PFUnDA, PFDoDA, PFTrDA, and emerging alternatives 6:2 Cl-PFESA and 8:2 Cl-PFESA, with odds ratios of 1.95 (95%CI: 1.39-2.75), 2.10 (95%CI: 1.58-2.75), 2.12 (95%CI: 1.39-3.25), 2.64 (95%CI: 1.63-4.22), 3.46 (95%CI: 2.34-5.10), and 3.25 (95%CI: 2.01-5.26), respectively. Conversely, the exposure levels of short-chain PFPeA, PFHxA, and branched PFOA (br-PFOA) were significantly lower, with odds ratios of 0.44 (95%CI: 0.38-0.52), 0.30 (95%CI: 0.16-0.57), and 0.50 (95%CI: 0.38-0.67), respectively. Conclusion PFAS are widely present in neonatal cord blood in both the e-waste recycling area and the general exposure area. Compared to the general exposure area, the neonatal cord blood samples in the e-waste recycling area show higher exposure levels of certain long-chain perfluoroalkyl carboxylic acids (PFCA) and emerging PFAS alternatives, while the neonatal cord blood samples in the general exposure area show higher exposure levels of some short-chain PFCA and PFOA branched isomers.

Objective:To explore the effect of intervention model based on comprehensive nutrition management on glucose and lipid metabolism and pregnancy outcome in patients with gestational diabetes mellitus (GDM).Methods:104 GDM patients admitted to Shanxi Bethune Hospital from February 2022 to March 2023 were randomly divided into control group and experimental group, with 52 cases in each group. The control group implemented routine management measures and nutrition guidance, while the experimental group implemented an intervention model based on comprehensive nutrition management on the basis of routine management. The indexes of glucose and lipid metabolism (glycosylated hemoglobin, fasting blood glucose, 2 h postprandial blood glucose, total cholesterol, triglyceride and low density lipoprotein cholesterol), pregnancy outcome, self-management ability and self-efficacy were compared between the two groups before and after intervention.Results:Before the intervention, there was no significant difference in general situation, glucose and lipid metabolism index, self-management ability and self-efficacy between the two groups ( P>0.05). After the intervention, the level of glucose and lipid metabolism index in the experimental group was significantly lower than that in the control group, with statistical significance ( P<0.05). The incidence of adverse pregnancy outcome in the experimental group was significantly lower than that in the control group, with statistical significance ( P<0.05). The scores of self-management ability and self-efficacy in the experimental group were significantly higher than those in the control group, with statistical significance ( P<0.05). Conclusion:The intervention model based on comprehensive nutrition management can effectively improve the glucose and lipid metabolism index and pregnancy outcome of GDM patients, and significantly improve their self-management ability and self-efficacy related to nutrition management, which has high clinical application and promotion value.

Dysimmunity plays a key role in diabetes, especially type 1 diabetes mellitus. Islet-specific autoantibodies (ISAs) have been used as diagnostic markers for different phenotypic classifications of diabetes. This study was aimed to explore the relationships between ISA titers and the clinical characteristics of diabetic patients.

Dysimmunity plays a key role in diabetes, especially type 1 diabetes mellitus. Islet-specific autoantibodies (ISAs) have been used as diagnostic markers for different phenotypic classifications of diabetes. This study was aimed to explore the relationships between ISA titers and the clinical characteristics of diabetic patients.

Background: Dysimmunity plays a key role in diabetes, especially type 1 diabetes mellitus. Islet-specific autoantibodies (ISAs) have been used as diagnostic markers for different phenotypic classifications of diabetes. This study was aimed to explore the relationships between ISA titers and the clinical characteristics of diabetic patients. Methods: A total of 509 diabetic patients admitted to Department of Endocrinology and Metabolism at the Affiliated Hospital of Nantong University were recruited. Anthropometric parameters, serum biochemical index, glycosylated hemoglobin, urinary microalbumin/creatinine ratio, ISAs, fat mass, and islet β-cell function were measured. Multiple linear regression analysis was performed to identify relationships between ISA titers and clinical characteristics. Results: Compared with autoantibody negative group, blood pressure, weight, total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), visceral fat mass, fasting C-peptide (FCP), 120 minutes C-peptide (120minCP) and area under C-peptide curve (AUCCP) of patients in either autoantibody positive or glutamate decarboxylase antibody (GADA) positive group were lower.Body mass index (BMI), waist circumference, triglycerides (TGs), body fat mass of patients in either autoantibody positive group were lower than autoantibody negative group. GADA titer negatively correlated with TC, LDL-C, FCP, 120minCP, and AUCCP.The islet cell antibody and insulin autoantibody titers both negatively correlated with body weight, BMI, TC, TG, and LDL-C. After adjusting confounders, multiple linear regression analysis showed that LDL-C and FCP negatively correlated with GADA titer. Conclusion Diabetic patients with a high ISA titer, especially GADA titer, have worse islet β-cell function, but less abdominal obesity and fewer features of the metabolic syndrome.