Clinical data of two patients with X-linked adrenoleukodystrophy (X-ALD) initially presenting as Addison′s disease were collected from the Department of Endocrinology, First Medical Center of Chinese PLA General Hospital. Relevant medical history, clinical features, laboratory tests, and genetic results were analyzed. The two male patients, aged 7 years (case 1) and 15 years (case 2), initially presented with generalized skin hyperpigmentation, without any family history of similar disorders. Both had normal growth and development, and adrenal CT and brain MRI revealed no significant abnormalities. Elevated very long-chain fatty acid (VLCFA) levels were detected. Genetic analyses identified a maternally inherited missense mutation (c.830G>A, p.Gly277Glu) in the ATP-binding cassette subfamily D member 1 (ABCD1) gene in case 1, and a missense mutation (c.1499G>T, p.Gly500Val) in case 2. Protein structural predictions indicated both mutations as potentially damaging or damaging, and both were classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) criteria (PM1/PM2/PP3_Moderate and PM2/PP3_Moderate/PM6, respectively), supporting their correlation with the clinical phenotype. Clinicians should maintain vigilance for X-ALD in male patients presenting with Addison′s disease, and combined VLCFA and genetic testing can effectively prevent misdiagnosis or delayed diagnosis.

Objective To investigate the value of multimodal model integrating digital mammography(MG)and MRI radiomics features for preoperative prediction of lymphovascular invasion(LVI)status in breast cancer.Methods The clinical and imaging data from 336 patients with pathologically confirmed invasive breast cancer were retrospectively analyzed and randomly divided into a training group(235 cases)and a test group(101 cases)according to the ratio of 7∶3.Feature dimensionality reduction was carried out by Pearson correlation analysis followed by least absolute shrinkage and selection operator(LASSO)regression.Radiomics models were constructed based on MG craniocaudal(CC),dynamic contrast enhancement(DCE),T2 WI,and integrated MRI sequences;a multimodal model was further developed by incorporating clinical high-risk factors.The predictive efficiency of each model was evaluated by plotting receiver operating characteristic(ROC)curve.Results The ROC curve analysis showed that the multimodal model performed the best predictive efficiency,with area under the curve(AUC)of 0.989 and 0.861,accuracy of 0.949 and 0.782,sensitivity of 0.923 and 0.828,and specificity of 0.962 and 0.764 in the training group and test group respectively.Conclusion The multimodal model,integrating MG and MRI radiomics features,show optimal performance and can be served as a preoperative prediction of LVI status in breast cancer.

Objective To investigate the value of multimodal model integrating digital mammography(MG)and MRI radiomics features for preoperative prediction of lymphovascular invasion(LVI)status in breast cancer.Methods The clinical and imaging data from 336 patients with pathologically confirmed invasive breast cancer were retrospectively analyzed and randomly divided into a training group(235 cases)and a test group(101 cases)according to the ratio of 7∶3.Feature dimensionality reduction was carried out by Pearson correlation analysis followed by least absolute shrinkage and selection operator(LASSO)regression.Radiomics models were constructed based on MG craniocaudal(CC),dynamic contrast enhancement(DCE),T2 WI,and integrated MRI sequences;a multimodal model was further developed by incorporating clinical high-risk factors.The predictive efficiency of each model was evaluated by plotting receiver operating characteristic(ROC)curve.Results The ROC curve analysis showed that the multimodal model performed the best predictive efficiency,with area under the curve(AUC)of 0.989 and 0.861,accuracy of 0.949 and 0.782,sensitivity of 0.923 and 0.828,and specificity of 0.962 and 0.764 in the training group and test group respectively.Conclusion The multimodal model,integrating MG and MRI radiomics features,show optimal performance and can be served as a preoperative prediction of LVI status in breast cancer.

Clinical data of two patients with X-linked adrenoleukodystrophy (X-ALD) initially presenting as Addison′s disease were collected from the Department of Endocrinology, First Medical Center of Chinese PLA General Hospital. Relevant medical history, clinical features, laboratory tests, and genetic results were analyzed. The two male patients, aged 7 years (case 1) and 15 years (case 2), initially presented with generalized skin hyperpigmentation, without any family history of similar disorders. Both had normal growth and development, and adrenal CT and brain MRI revealed no significant abnormalities. Elevated very long-chain fatty acid (VLCFA) levels were detected. Genetic analyses identified a maternally inherited missense mutation (c.830G>A, p.Gly277Glu) in the ATP-binding cassette subfamily D member 1 (ABCD1) gene in case 1, and a missense mutation (c.1499G>T, p.Gly500Val) in case 2. Protein structural predictions indicated both mutations as potentially damaging or damaging, and both were classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) criteria (PM1/PM2/PP3_Moderate and PM2/PP3_Moderate/PM6, respectively), supporting their correlation with the clinical phenotype. Clinicians should maintain vigilance for X-ALD in male patients presenting with Addison′s disease, and combined VLCFA and genetic testing can effectively prevent misdiagnosis or delayed diagnosis.

Objective:To translate Propensity to Achieve Healthy Lifestyle Scale (PAHLS) into Chinese and test its reliability and validity in patients with hypertension to provide the reliable assessment tool for medical staff to evaluate the propensity to achieve healthy lifestyle in hypertensive patients.Methods:This was a cross-sectional study. The original scale was translated according to Brislin model. After expert correction, cultural adjustment and pre-investigation, the items for Chinese version of PAHLS were determined. From February to May 2023, 400 patients with hypertension were selected as the participants from Tianjin Hebei District Tiedong Road Street Community Healthcare Center, Tianjin Dongli District Junliang Cheng Hospital by convenience sampling method. Critical ration and correlation analysis were used for item analysis. Content validity, exploratory factor analysis and confirmatory factor analysis were used to evaluate the validity of the Chinese version of PAHLS. Cronbach′s α coefficient and split-half reliability were used to evaluate the reliability of the scale. Results:A total of 400 patients were included in this study ultimately, aged (71.69 ± 7.25) years old, 177 males and 223 females. The Chinese version of the PAHLS included 6 items, and the results of item analysis showed that the content of each item was highly consistent with that of overall scale. The content validity indexes of the Chinese version of PAHLS at both the scale level and item level were 1. Only one factor was extracted based on exploratory factor analysis, with a cumulative variance contribution rate of 72.24%. Confirmatory factor analysis indicated a good fit, with the fitting indexes of χ2/ df=0.53, root mean square error of approximation (RMSEA)<0.01, root of mean square residual (RMR)=0.02, goodness-of-fit index (GFI)=1.00, comparative fit index (CFI)=1.00, normed fit index (NFI)=1.00, adjust goodness-of-fit index (AGFI)=0.98, incremental fit index (IFI)=1.00, Tucker-Lewis index (TLI)=1.01, Convergent validity: composite reliability (CR)=0.86 and average vriance extracted (AVE)=0.53. The overall Cronbach′s α coefficient of the scale was 0.91 and Cronbach′s α coefficients of item level were from 0.87 to 0.91, with split-half reliability value of 0.89. Conclusions:The Chinese version of the PAHLS has good reliability and validity, which can be used by medical staff to evaluate the propensity to achieve healthy lifestyle in hypertensive patients under Chinese cultural background, to increase understanding of decision-making on behavioral change in hypertensive patients and promote medical staff to jointly develop behavioral change plans with hypertensive patients.

Objective:To investigate the effect and regulation of umbilical cord-derived mesenchymal stem cells (UC-MSCs) on islets function and NOD-like receptor family, pyrin domain containing 3 (NLRP3) and autophagy in type 2 diabetic mellitus (T2DM) mice.Methods:Experimental study. Twenty, 8-week-old, male C57BL/6J mice were selected and divided into a normal control group ( n=5) and a high-fat feeding modeling group ( n=15). The model of T2DM was established by high-fat feeding combined with intraperitoneal injection of low-dose streptozotocin. After successful modeling, those mice were divided into a diabetes group ( n=7) and a UC-MSCs treatment group ( n=7). The UC-MSCs treatment group was given UC-MSCs (1×10 6/0.2 ml phosphate buffer solution) by tail vein infusion once a week for a total of 4 weeks; the diabetes group was injected with the same amount of normal saline, and the normal control group was not treated. One week after the treatment, mice underwent intraperitoneal glucose tolerance tests and intraperitoneal insulin tolerance tests, and then the mice were sacrificed to obtain pancreatic tissue to detect the expressions of interleukin-1β (IL-1β) and pancreatic and duodenal homeobox 1 (PDX-1) by immunofluorescence. The bone marrow-derived macrophages were stimulated with lipopolysaccharide and adenosine triphosphate (experimental group) in vitro, then co-cultured with UC-MSCs for 24 h (treatment group). After the culture, enzyme-linked immunosorbent assay was used to detect the secretion level of IL-1β in the supernatant, and immunofluorescence staining was used to detect the expression of NLRP3 inflammasome, and related autophagy proteins. Statistical analysis was performed using unpaired one-way analysis of variance, repeated measure analysis of variance. Results:In vivo experiments showed that compared with the diabetes group, the UC-MSCs treatment group partially repaired islet structure, improved glucose tolerance and insulin sensitivity (all P<0.05), and the expression of PDX-1 increased and IL-1β decreased in islets under confocal microscopy. In vitro experiments showed that compared with the experimental group, the level of IL-1β secreted by macrophages in the treatment group was decreased [(85.9±74.6) pg/ml vs. (883.4±446.2) pg/ml, P=0.001], the expression of NLRP3 inflammasome and autophagy-related protein P62 was decreased, and the expressions of microtubule-associated protein 1 light chain 3β (LC3) and autophagy effector Beclin-1 were increased under confocal microscopy. Conclusions:UC-MSCs can reduce the level of pancreatic inflammation in T2DM mice, preserving pancreatic function. This might be associated with the ability of UC-MSCs to inhibit the activity of NLRP3 inflammasomes in macrophages and enhance autophagy levels.