1.Two cases of X-linked adrenoleukodystrophy presenting with Addison′s disease as the initial manifestation and analysis of novel ABCD1 variants
Yaqi YIN ; Liqin LI ; Yu CHENG ; Li ZANG ; Weijun GU ; Zhaohui LYU ; Yiming MU
Chinese Journal of Internal Medicine 2025;64(9):861-867
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.
2.Prediction of repeat pulmonary balloon angioplasty within using TAPSE/sPAP ratio in chronic thromboembolic pulmonary hypertension
Dezhi REN ; Jiajun XIONG ; Chenchen LYU ; Yaqi XU ; Zhenguo ZHAI ; Wanmu XIE ; Hui WANG ; Jun DUAN
Chinese Journal of Thoracic and Cardiovascular Surgery 2025;41(9):544-549
Objective:To evaluate the predictive value of the tricuspid annular plane systolic excursion to systolic pulmonary artery pressure ratio(TAPSE/sPAP) in identifying precapillary pulmonary hypertension(pcPH) patients requiring repeat balloon pulmonary angioplasty(BPA) within 3 months after initial intervention, and to determine independent risk factors associated with postoperative reintervention.Methods:We retrospectively collected clinical data from 215 consecutive patients with pcPH undergoing BPA. After applying exclusion criteria, 200 patients were ultimately included in the analysis. The predictive value of the TAPSE/sPAP for short-term BPA reintervention was assessed using receiver operating characteristic( ROC) curve analysis and multivariable logistic regression. Internal validation was performed through bootstrap resampling with 1 000 iterations to evaluate model stability. Results:A risk model for echocardiography was constructed using multiple logistic regression, and the results showed that systolic pulmonary artery pressure(sPAP), peak tricuspid regurgitation velocity(TRV), tricuspid regurgitation pressure gradient(PGTR), and TAPSE/sPAP ratio were predictive factors for BPA surgery in patients with pulmonary hypertension within 3 months. Multivariate regression analysis suggests that the TAPSE/sPAP ratio is an independent influencing factor for BPA after 3 months( OR=0.023, P<0.05). The predicted area under the ROC curve( AUC) for BPA after 3 months is 0.62(95% CI: 0.530-0.648), P<0.01, which is better than other cardiac ultrasound indicators. At the same time, internal bootstrap method was used for internal self-validation, and the AUC of the internal self-validation set was 0.67. Conclusion:The TAPSE/sPAP ratio serves as an independent predictor for requiring repeat BPA within 3 months postoperatively in patients with pcPH.
3.Association between gut microbiota diversity, inflammatory cytokine profiles, and disease severity in individuals with insomnia
Zhaoyan LYU ; Shangwu BAI ; Zhe WANG ; Tingting XIE ; Mengyuan YU ; Yaqi SUN ; Tingting WU ; Zhen GAO ; Yumei WANG
Chinese Journal of Psychiatry 2025;58(8):620-629
Objective:To investigate the alterations in gut microbiota diversity and inflammatory cytokine levels among patients with varying severities of insomnia, and to explore their interrelationships, in order to provide a theoretical basis for understanding the pathophysiology of insomnia.Methods:A total of 42 patients with chronic insomnia who visited the First Hospital of Hebei Medical University between March and December 2023 were enrolled in the insomnia group, and 22 age-and sex-matched healthy volunteers were recruited from the same hospital as the control group. General demographic data were collected, and Mini-International Neuropsychiatric Interview (MINI) was used to screen for comorbid psychiatric disorders. The Self-Rating Depression Scale (SDS) and the Self-Rating Anxiety Scale (SAS) were employed to evaluate individual′s depressive and anxiety symptoms. Sleep quality and insomnia severity were assessed using the Pittsburgh Sleep Quality Index (PSQI) and the Insomnia Severity Index (ISI), Participants′ gastrointestinal function and symptoms over the past week were evaluated using the Gastrointestinal Symptom Rating Scale (GSRS). Fecal and blood samples were collected from all participants. Gut microbiota diversity was analyzed using 16S rRNA sequencing. Differential taxa were identified using linear discriminant analysis effect size (LEfSe) and random forest analysis. Serum levels of inflammatory cytokines were measured by enzyme-linked immunosorbent assay (ELISA). Spearman correlation analysis was used to explore the relationships between insomnia symptoms, microbial diversity indices, key microbial taxa, and inflammatory markers. Multiple linear regression analysis was conducted to identify factors associated with insomnia severity.Results:Compared to the control group, both the mild insomnia group and the moderate-to-severe insomnia group showed significantly higher GSRS scores ( Z=-3.51, -2.72, both P<0.05). The Chao1 index was significantly lower in the mild and moderate-to-severe insomnia groups than in controls ( Z=-3.53, -3.87, both P<0.05). Similarly, the Observed species index was lower in both the mild and moderate-to-severe groups ( Z=-3.33, -3.74, both P<0.05). The Shannon index was significantly reduced in the moderate-to-severe group compared to both the mild group and controls ( Z=-2.81, -2.23, both P<0.05). The Simpson index in the moderate-to-severe group also tended to be lower than in the mild group ( Z=-1.95, P=0.051). Beta diversity differed significantly among the mild insomnia group, the moderate-to-severe insomnia group ( P<0.05), and the control group ( F=2.96, 3.12, both P<0.05). Random forest analysis identified Ruminococcus_D and Klebsiella as key microbial genera distinguishing between mild and moderate-to-severe insomnia. Inflammatory cytokine levels were significantly elevated in both insomnia groups compared to controls ( P<0.05). PSQI scores were negatively correlated with the Shannon index, the Observed species index, and the relative abundance of Ruminococcus_D ( r=-0.34, -0.30, and -0.25, respectively; all P<0.05). Multiple linear regression revealed that serum IL-1β (β=0.339, 95% CI=0.014-0.716, P=0.042) and Ruminococcus_D (β=-0.309, 95% CI=-194.591--8.318, P=0.034) were independent predictors of insomnia severity. Conclusion:Elevated inflammatory cytokine levels and reduced gut microbial richness may be closely associated with increased insomnia severity. Additionally, Ruminococcus_D and IL-1β may be important factors contributing to the severity of insomnia in affected individuals.
4.Two cases of X-linked adrenoleukodystrophy presenting with Addison′s disease as the initial manifestation and analysis of novel ABCD1 variants
Yaqi YIN ; Liqin LI ; Yu CHENG ; Li ZANG ; Weijun GU ; Zhaohui LYU ; Yiming MU
Chinese Journal of Internal Medicine 2025;64(9):861-867
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.
5.Prediction of repeat pulmonary balloon angioplasty within using TAPSE/sPAP ratio in chronic thromboembolic pulmonary hypertension
Dezhi REN ; Jiajun XIONG ; Chenchen LYU ; Yaqi XU ; Zhenguo ZHAI ; Wanmu XIE ; Hui WANG ; Jun DUAN
Chinese Journal of Thoracic and Cardiovascular Surgery 2025;41(9):544-549
Objective:To evaluate the predictive value of the tricuspid annular plane systolic excursion to systolic pulmonary artery pressure ratio(TAPSE/sPAP) in identifying precapillary pulmonary hypertension(pcPH) patients requiring repeat balloon pulmonary angioplasty(BPA) within 3 months after initial intervention, and to determine independent risk factors associated with postoperative reintervention.Methods:We retrospectively collected clinical data from 215 consecutive patients with pcPH undergoing BPA. After applying exclusion criteria, 200 patients were ultimately included in the analysis. The predictive value of the TAPSE/sPAP for short-term BPA reintervention was assessed using receiver operating characteristic( ROC) curve analysis and multivariable logistic regression. Internal validation was performed through bootstrap resampling with 1 000 iterations to evaluate model stability. Results:A risk model for echocardiography was constructed using multiple logistic regression, and the results showed that systolic pulmonary artery pressure(sPAP), peak tricuspid regurgitation velocity(TRV), tricuspid regurgitation pressure gradient(PGTR), and TAPSE/sPAP ratio were predictive factors for BPA surgery in patients with pulmonary hypertension within 3 months. Multivariate regression analysis suggests that the TAPSE/sPAP ratio is an independent influencing factor for BPA after 3 months( OR=0.023, P<0.05). The predicted area under the ROC curve( AUC) for BPA after 3 months is 0.62(95% CI: 0.530-0.648), P<0.01, which is better than other cardiac ultrasound indicators. At the same time, internal bootstrap method was used for internal self-validation, and the AUC of the internal self-validation set was 0.67. Conclusion:The TAPSE/sPAP ratio serves as an independent predictor for requiring repeat BPA within 3 months postoperatively in patients with pcPH.
6.Association between gut microbiota diversity, inflammatory cytokine profiles, and disease severity in individuals with insomnia
Zhaoyan LYU ; Shangwu BAI ; Zhe WANG ; Tingting XIE ; Mengyuan YU ; Yaqi SUN ; Tingting WU ; Zhen GAO ; Yumei WANG
Chinese Journal of Psychiatry 2025;58(8):620-629
Objective:To investigate the alterations in gut microbiota diversity and inflammatory cytokine levels among patients with varying severities of insomnia, and to explore their interrelationships, in order to provide a theoretical basis for understanding the pathophysiology of insomnia.Methods:A total of 42 patients with chronic insomnia who visited the First Hospital of Hebei Medical University between March and December 2023 were enrolled in the insomnia group, and 22 age-and sex-matched healthy volunteers were recruited from the same hospital as the control group. General demographic data were collected, and Mini-International Neuropsychiatric Interview (MINI) was used to screen for comorbid psychiatric disorders. The Self-Rating Depression Scale (SDS) and the Self-Rating Anxiety Scale (SAS) were employed to evaluate individual′s depressive and anxiety symptoms. Sleep quality and insomnia severity were assessed using the Pittsburgh Sleep Quality Index (PSQI) and the Insomnia Severity Index (ISI), Participants′ gastrointestinal function and symptoms over the past week were evaluated using the Gastrointestinal Symptom Rating Scale (GSRS). Fecal and blood samples were collected from all participants. Gut microbiota diversity was analyzed using 16S rRNA sequencing. Differential taxa were identified using linear discriminant analysis effect size (LEfSe) and random forest analysis. Serum levels of inflammatory cytokines were measured by enzyme-linked immunosorbent assay (ELISA). Spearman correlation analysis was used to explore the relationships between insomnia symptoms, microbial diversity indices, key microbial taxa, and inflammatory markers. Multiple linear regression analysis was conducted to identify factors associated with insomnia severity.Results:Compared to the control group, both the mild insomnia group and the moderate-to-severe insomnia group showed significantly higher GSRS scores ( Z=-3.51, -2.72, both P<0.05). The Chao1 index was significantly lower in the mild and moderate-to-severe insomnia groups than in controls ( Z=-3.53, -3.87, both P<0.05). Similarly, the Observed species index was lower in both the mild and moderate-to-severe groups ( Z=-3.33, -3.74, both P<0.05). The Shannon index was significantly reduced in the moderate-to-severe group compared to both the mild group and controls ( Z=-2.81, -2.23, both P<0.05). The Simpson index in the moderate-to-severe group also tended to be lower than in the mild group ( Z=-1.95, P=0.051). Beta diversity differed significantly among the mild insomnia group, the moderate-to-severe insomnia group ( P<0.05), and the control group ( F=2.96, 3.12, both P<0.05). Random forest analysis identified Ruminococcus_D and Klebsiella as key microbial genera distinguishing between mild and moderate-to-severe insomnia. Inflammatory cytokine levels were significantly elevated in both insomnia groups compared to controls ( P<0.05). PSQI scores were negatively correlated with the Shannon index, the Observed species index, and the relative abundance of Ruminococcus_D ( r=-0.34, -0.30, and -0.25, respectively; all P<0.05). Multiple linear regression revealed that serum IL-1β (β=0.339, 95% CI=0.014-0.716, P=0.042) and Ruminococcus_D (β=-0.309, 95% CI=-194.591--8.318, P=0.034) were independent predictors of insomnia severity. Conclusion:Elevated inflammatory cytokine levels and reduced gut microbial richness may be closely associated with increased insomnia severity. Additionally, Ruminococcus_D and IL-1β may be important factors contributing to the severity of insomnia in affected individuals.
7.Reliability and validity of the Chinese version of Propensity to Achieve Healthy Lifestyle Scale
Xiaonan ZHANG ; Qingyun LYU ; Xueying XU ; Yaqi WANG ; Xiaoying ZANG
Chinese Journal of Practical Nursing 2024;40(18):1375-1381
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.
8.Adiponectin gene polymorphism and postpartum type 2 diabetes in pregnant women with gestational diabetes mellitus
Xianghua LYU ; Yun CHAI ; Na XIAN ; Yanan ZHANG ; Yaqi FENG ; Danni XU ; Huamei JIANG
Journal of Chinese Physician 2024;26(2):191-195
Objective:To investigate the relationship between adiponectin (ADIPOQ) gene polymorphism and postpartum type 2 diabetes mellitus (T2DM) in pregnant women with gestational diabetes mellitus (GDM).Methods:A retrospective study was conducted on 236 GDM postpartum women admitted to the Affiliated Hospital of Jining Medical College from June 2020 to June 2021 as observation subjects. They were divided into a T2DM group and a non T2DM group based on the occurrence of T2DM after delivery. The clinical data of the two groups were compared. The double deoxygenation end termination method was used to detect the single nucleotide polymorphism (SNP) of the ADIPOQ gene, and the four loci rs17366568, rs822395, rs1501299, and rs2241766 were classified. The relationship between ADIPOQ genotype polymorphism and postpartum T2DM was analyzed using a logistic regression model.Results:The G allele carrying the rs2241766 locus in ADIPOQ gene was negatively correlated with the occurrence of T2DM ( OR=0.71, 0.68, P<0.05). Compared with T2DM patients with TT genotype, the GT+ GG genotype at the rs2241766 locus had a lower risk of occurrence for gestational age ≥2 and HbA 1c>85%. Similarly, T2DM patients with pre pregnancy body mass index (BMI)>25 kg/m 2 were more likely to be carriers of the rs2241766 TT genotype ( P=0.026). The (GT+ TT) genotype carrying the T allele at the rs1501299 locus was a protective factor for gestational age and HbA 1c in T2DM patients. Conclusions:The rs2241766 and rs1501299 polymorphisms of the ADIPOQ gene are associated with susceptibility to postpartum T2DM in GDM women. Individuals with rs2241766 and rs1501299 mutant genotypes belong to the high-risk population for T2DM.
9.Research progress of natural collagen peptides and its skincare efficacy.
Yaqi WU ; Haiyan JU ; Yonggang LYU
Journal of Biomedical Engineering 2022;39(6):1254-1262
Natural collagen peptides are collagen hydrolysates. Because of their unique physicochemical properties and excellent biological activities, collagen peptides have been a research hotspot of cosmetic raw materials development and skincare efficacy improvement. Combined with the needs of the skincare efficacy and the development trends of cosmetics, the extraction methods and their structural characteristics of natural collagen peptides were summarized in detail. The applications and its research progress in skincare efficacy of collagen peptides, such as moisturizing and anti-wrinkle, trophism and anti-aging, filling and skin regeneration were expressed with emphasis. Finally, the development and practical applications in cosmetics of natural collagen peptides were adequately prospected.
Skin Care
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Skin
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Peptides/pharmacology*
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Cosmetics/chemistry*
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Collagen
10.Optimization for technical resources of children′s gastroscopy based on diagnosis-related groups
Yaqi LYU ; Yueping ZENG ; Fei SONG ; Guoshuang FENG ; Jian TIAN ; Xin XU ; Xin NI
Chinese Journal of Hospital Administration 2021;37(3):203-206
Objective:To analyze the gastroscopy treatment technology in a Children′s Medical Center based on the diagnosis-related groups(DRG) and put forward suggestions for resource optimization.Methods:The data of the front pages of medical records of 22 medical institutions in a Children′s Medical Center in 2018 were divided into DRG groups. The patients in gastroscope treatment operation group(GK3)were selected, and the disease diagnosis, operation and payment methods of the patients in this group were analyzed.Results:Of the 22 medical institutions, 16 had GK3 group cases, and the number of cases was significantly different, ranging from 2 to 917. Among them, the institution with code M was characterized by multiple endoscopic treatment of esophageal stricture, but most other institutions rarely carried out the treatment of esophageal stricture. In GK3 group, the main payment method of children in Institution M with the highest constituent ratio was at one′s own expense, followed by non-local medical insurance. The main payment type of O and P institutions with the second and third constituent ratio was local medical insurance.Conclusions:The gap of the technology of gastroscopy in the treatment of esophageal stricture is large in all institutions. The high-quality medical resources can be sunk through the construction of pediatric medical alliance, and the gap between the regional medical technology can be continuously leveled.

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