1.A case of congenital systemic lipodystrophy with exfoliated xanthoma caused by AGPAT2 gene mutation
Yunyun LUO ; Liyuan ZHANG ; Xinyi WANG ; He LIU ; Hanze DU ; Hui PAN
Basic & Clinical Medicine 2023;43(12):1852-1856
Objective To analyze the clinical characteristics and genotype of a patient with congenital systemic lip-odystrophy(CGL)type 1 associated with exudative xanthoma caused by AGPAT2 gene mutation,and to provide ev-idence for clinical and genetic diagnosis of the disease.Methods Clinical data of the patient such as medical histo-ry,physical examination and laboratory examination were collected.Peripheral venous blood was collected for whole exome sequencing analysis and Sanger sequencing verification,and treatment was provided to patients according to the changes of condition.Results The clinical manifestations of the patient were subcutaneous fat reduction,fatty liver,spleen enlargement,kidney enlargement,high blood sugar and lipids,severe insulin resistance,scattered yellow rash on limbs,which was confirmed as xanthoma.The results of whole exon sequencing showed that the AGPAT2 gene of the patient had a heterozygous nonsense mutation of c.202C>T:p.R68?and c.646A>T:p.K216?,and the former was the pathogenic mutation site.Follow-up therapy covers improvement of lifestyle,low-fat diet and regular exercise.The rashes subsided after active lipid-lowering therapy.Conclusions Apart from typical lipody-strophy,the patient was accompanied by exanthemous xanthoma.No CGL1 patient with exanthemous xanthoma has been reported in the domestic literature database up to now,and the genetic test results showed that there was a c.202C>T heterozygous mutation of AGPAT2 gene.This gene site has not been reported in the literature,and its functional verification needs to be further studied.
2.Study on the influential factors for clinical efficacy of polymyxin B combined with other antibiotics in the treat-ment of carbapenem-resistant Acinetobacter baumannii pulmonary infection
Mei DU ; Ruijuan TAN ; Lidan WANG ; Hejun CHEN ; Hanze LI ; Yuanyuan ZHANG
China Pharmacy 2025;36(12):1495-1499
OBJECTIVE To analyze the influential factors for clinical efficacy of polymyxin B combined with other antibiotics in the treatment of carbapenem-resistant Acinetobacter baumannii (CRAB) pulmonary infection. METHODS A retrospective analysis was conducted on the clinical data of patients with CRAB pulmonary infection in our hospital from May 2021 to October 2024. Information such as age, gender, admitting department, infection status, underlying medical conditions, mechanical ventilation time, combination anti-infective treatment regimens, and the Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE-Ⅱ) score 24 h before medication was compiled. Based on the effectiveness of the treatment, patients were divided into treatment-effective group and treatment-ineffective group. Univariate analysis and multivariate Logistic regression analysis were employed to identify independent factors influencing clinical efficacy. RESULTS A total of 156 patients were included, and 108 patients were treated effectively, with an effective rate of 69.23%. The results of univariate analysis indicated that there were statistically significant differences between 2 groups in terms of the duration of mechanical ventilation time, APACHE-Ⅱ score 24 h before medication, the number of complication types, the proportion of abnormal coagulation function, anti-infective treatment course, and hospital stay before medication (P<0.05). The results of multivariate Logistic regression analysis showed that APACHE-Ⅱ score≥15 points 24 h before medication [OR=2.965, 95%CI (1.284, 6.845), P=0.020], mechanical 20251606) ventilation time≥10 d [OR=3.577, 95%CI (1.185, 10.793), P=0.037] and hospital stay≥14 d before medication [OR=2.422, 95%CI (1.036, 5.654), P=0.041] were independent 15120420253@139.com risk factors, and anti-infective treatment course>7 d was a protective factor [OR=0.445, 95%CI (0.221, 0.895), P=0.043]. CONCLUSIONS This study shows that the effective rate of polymyxin B combined with other antibiotics in the treatment of CRAB pulmonary infection is less than 70%. The mechanical ventilation time≥10 d, APACHE-Ⅱ score≥15 points 24 h before medication, and hospital stay≥14 d before medication may lead to treatment failure, whereas anti-infective treatment course>7 d may be associated with treatment success.
3.Oral Microbiota and Childhood Growth and Development
Rongrong YE ; Hanze DU ; Shi CHEN ; Daowei LI ; Hui PAN
Medical Journal of Peking Union Medical College Hospital 2025;16(3):545-551
Childhood is a critical period for growth and development, and the oral microbiota, as the second most diverse microbial community in the human body, plays a pivotal role in maintaining children's health. Recent studies have demonstrated that dysbiosis of the oral microbiota not only contributes to oral diseases such as dental caries and periodontitis but may also influence the development of children's skeletal, nervous, digestive, cardiovascular, and immune systems through mechanisms involving inflammatory responses, metabolic regulation, and cross-organ communication networks. This review systematically examines the role of the oral microbiota in childhood growth and development and, guided by the core principles of the "active health" model, proposes multiple intervention strategies—including probiotics, xylitol, and mouthwashes—to optimize children's health through early oral microbiota modulation.
4.Oral Proactive Healthcare and Obesity
Jing CUI ; Hanze DU ; Wenhao ZHAI ; Linlin WEN ; Lei HUANG ; Shi CHEN ; Daowei LI ; Hui PAN
Medical Journal of Peking Union Medical College Hospital 2024;15(2):450-455
Oral health is closely related to systemic health. Common chronic oral diseases, periodontitis and periapical inflammation for example, not only affect the health of oral soft and hard tissues including the alveolar bone and gums, but may also cause changes in systemic conditions such as chronic low-grade inflammation, elevated oxidative stress levels, and dysbiosis of the microbiota. These changes in systemic health can exacerbate the progression of obesity. Therefore, through proactive oral health interventions such as maintaining good oral hygiene habits, modifying dietary structures, and undergoing oral examinations, it is possible to effectively prevent and alleviate inflammatory oral diseases, and actively intervene in obesity. This article delves into the impact of inflammatory oral diseases on obesity and their underlying mechanisms, defines the concept of "oral proactive healthcare", and systematically summarizes their preventive and therapeutic effects on inflammatory oral diseases, thereby demonstrating the potential of improving obesity through proactive oral health strategies.
5.The Correlation between Tooth Brushing Frequency and Blood Indicators in Adolescents: A Cross-sectional Observational Study
Xu ZHANG ; Hanze DU ; Wenhao ZHAI ; Shuaihua SONG ; Xiaoyuan GUO ; Linlin WEN ; Lei HUANG ; Shi CHEN ; Daowei LI ; Hui PAN
Medical Journal of Peking Union Medical College Hospital 2024;15(4):960-967
To analyze the effects of tooth brushing frequency on blood indicators among adolescents and to preliminarily explore the effects of tooth brushing frequency on general health. Using convenience sampling method, the study included the students of class 2021 of Jining No. 7 Middle School and student athletes from the Jining Sports Training Center. Univariate and multivariate linear regression analyses were used to investigate the correlation between tooth brushing frequency and blood indicators such as eosinophil percentage (EOS%), eosinophil count (EOS#), basophil percentage (BAS%), basophil count (BAS#), superoxide dismutase (SOD), insulin-like growth factor 1 (IGF-1) and uric acid (UA). A total of 305 students were included (167 from Jining No. 7 Middle School, 138 from Jining Sports Training Centre), with 192 (62.95%) males and 113 (37.05%) females. They were divided into three groups based on daily teeth brushing frequency: ≤1 time (40.33%, 123/305), 2 times (53.77%, 164/305), and ≥3 times (5.90%, 18/305).Univariate linear regression analysis showed that brushing twice daily was negatively correlated with EOS%, EOS#, BAS%, and BAS#(all The adolescent tooth brushing frequency correlates with several blood indicators affecting general health, suggesting that there may be a potential association between oral health and general health.
6.Correlation Analysis Between Ultrasound Ossification Ratio and Exercise Intensity in Adolescents
Li ZHANG ; Hanze DU ; Yixuan ZHANG ; Yamei YANG ; Zeqing ZHAO ; Xiaoyuan GUO ; Shi CHEN ; Hui PAN ; Xiao YANG ; Jianchu LI
Medical Journal of Peking Union Medical College Hospital 2024;15(5):1198-1203
To evaluate the correlation between ultrasound ossification ratio(OR) and exercise intensity among adolescents. This cross-sectional study used stratified sampling to select adolescents aged 11-15 years from a sports school and some ordinary middle schools in Shandong Province in June 2023. The participants were divided into two groups: competitive sports group (high exercise intensity), and general sports group (moderate exercise intensity), based on their exercise intensity. Ultrasound images of long bones from nine body regions (including 3 upper limb bones and 6 lower limb bones) were collected for both groups. Two sonographers interpreted the images and calculated the ultrasound OR values (the ratio of ossification center length to epiphyseal length on the standard ultrasound section). The intraclass correlation coefficient (ICC) was used to assess the consistency of image interpretation between the observers. Differences in ultrasound OR values between the two groups were compared, and multivariate Logistic regression analysis was performed to assess the correlation between ultrasound OR values and exercise intensity. A total of 252 adolescents who met the inclusion and exclusion criteria were included, with 154 in the competitive sports group (97 males and 57 females) and 98 in the general sports group (52 males and 46 females). The median height and average daily exercise duration were significantly higher in the competitive sports group than in the general sports group (all The medial femoral ultrasound OR value was correlated with exercise intensity among adolescents. This indicator may serve as an objective imaging parameter for assessing whether adolescent exercise meets recommended standards.
7.Body Composition Profiles and Associated Factors in Adolescents UndergoingLong-term Regular Exercise
Yutong WANG ; Xiaoyuan GUO ; Hanze DU ; Hui PAN ; Wei WANG ; Mei ZHANG ; Bo BAN ; Ping LI ; Xinran ZHANG ; Qiuping ZHANG ; Hongshuang SUN ; Rong LI ; Shi CHEN
Medical Journal of Peking Union Medical College Hospital 2025;16(3):591-597
To investigate body composition and associated factors in adolescents undergoing long-term regular sports training. This prospective longitudinal cohort study employed convenience sampling to recruit adolescents receiving structured athletic training at Jining Sports Training Center in June 2023. Baseline measurements included height, weight, body mass index (BMI), blood pressure, heart rate, waist circumference, and hip circumference. Questionnaires assessed sleep duration, screen time, and household income. Follow-up measurements in June 2024 repeated these assessments while adding bioelectrical impedance analysis for body composition (lean mass, skeletal muscle mass, fat mass, and body fat percentage). Linear regression models examined associations between training type (direct-contact vs. non-contact sports) and follow-up body fat percentage, BMI, and waist circumference as dependent variables, adjusting for covariates. The study included 110 adolescents (39 female, 71 male) with median age 13.21 years (IQR: 12.46-14.33). Participants comprised 65 direct-contact and 45 non-contact athletes. Baseline prevalence rates were 27.27% for overweight/obesity, 24.55% for elevated waist circumference, and 16.36% for elevated blood pressure. At follow-up, corresponding rates were 24.55%, 26.36%, and 13.64% respectively. The elevated blood pressure subgroup showed significantly higher waist circumference ( Despite regular athletic training, substantial proportions of adolescents exhibited overweight/obesity, abdominal obesity, and elevated blood pressure, warranting clinical attention. Training modality appears to influence body composition changes, with direct-contact sports associated with more favorable adiposity-related outcomes.
8.Preliminary Efficacy of Growth Hormone Therapy in Children With Congenital HeartDisease and Short Stature: A Six-case Report and Literature Review
Xi YANG ; Siyu LIANG ; Qianqian LI ; Hanze DU ; Shuaihua SONG ; Yue JIANG ; Huijuan MA ; Shi CHEN ; Hui PAN
Medical Journal of Peking Union Medical College Hospital 2025;16(3):641-646
Congenital heart disease (CHD) is a congenital malformation resulting from abnormal embryonic development of the heart and great vessels, accounting for approximately 25% of all congenital malformations. Children with CHD are often complicated by short stature. Although surgical treatment can improve their growth and development to a certain extent, some children still experience growth retardation after surgery. Recombinant human growth hormone (rhGH) is the main drug for treating short stature, but its efficacy and safety in the treatment of patients with concomitant CHD warrant further investigation. This article reports six cases of children with CHD and short stature who were treated with rhGH. Through a literature review, we summarize and discuss the therapeutic efficacy, follow-up experiences, and adverse reactions of rhGH treatment, aiming to provide references for clinicians in applying rhGH to treat patients with CHD and short stature.
9.Association Between Vitamin D Status and Insulin Resistance in Adolescents: A Cross-sectional Observational Study
Xiaoyuan GUO ; Yutong WANG ; Zhibo ZHOU ; Shi CHEN ; Mei ZHANG ; Bo BAN ; Ping LI ; Xinran ZHANG ; Qiuping ZHANG ; Kai YANG ; Hongbo YANG ; Hanze DU ; Hui PAN
Medical Journal of Peking Union Medical College Hospital 2025;16(3):577-583
To investigate the correlation between vitamin D nutritional status and insulin resistance in pubertal adolescents. This cross-sectional observational study employed convenience sampling to recruit 2021-grade(8th grade) students from Jining No.7 Middle School in Shandong Province on June 5, 2023. Data collection included questionnaires, physical examinations, and imaging assessments to obtain general information, secondary sexual characteristics development, and bone age. Venous blood samples were collected to measure fasting blood glucose(FBG), fasting insulin(FINS), homeostasis model assessment of insulin resistance(HOMA-IR), and 25-hydroxyvitamin D[25(OH)D] levels. Spearman correlation analysis and multivariate linear regression models were used to examine the associations between serum vitamin D levels and FBG, FINS, and HOMA-IR. The study included 168 pubertal adolescents[69 females(41.1%), 99 males(58.9%); mean age(13.27±0.46) years]. All participants had entered puberty based on sexual development assessment. Vitamin D deficiency was observed in 41 participants(24.4%), insufficiency in 109(64.9%), and sufficiency in 18(10.7%). The median HOMA-IR was 3.49(2.57, 5.14).Significant differences were found across vitamin D status groups for HOMA-IR [4.45(2.54, 6.62) Vitamin D deficiency/insufficiency is prevalent among pubertal adolescents, and serum vitamin D levels show a significant inverse association with insulin resistance. These findings suggest the potential importance of vitamin D status in metabolic health during puberty.