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.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.
3.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.
4.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.