Objective:To explore the genetic basis for a Chinese pedigree and a sporadic case with Neurofibromatosis type 1 (NF1).Methods:Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from peripheral venous blood samples and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.Results:All patients from the pedigree were found to harbor a c. 3251delC variant in exon 25 of the NF1 gene, whilst a c. 4312_4314delGAA variant was found in exon 32 of the NF1 gene in the sporadic case. Conclusion:Variants of the NF1 gene may account for the occurrence of NF1 in this pedigree and sporadic case.

Hereditary hemochromatosis is a rare autosomal genetic disorder that can cause multi-organ dysfunction in the liver,pancreas,spleen,heart and pituitary gland,with diverse clinical manifestations,make the diagnosis difficult.In recent years,with the deepening of clinical understanding and the development of genetic diagnosis tools,the diagnostic rate of this disease has increased significantly.In this paper,we report a case of hereditary hemochromatosis type 3 involving multiple organs and complicated by severe heart failure,aiming to improve the clinicians'understanding of this disease and reduce the leakage and misdiagnosis.

Objective: To explore the relationship between body image and adverse childhood experiences (ACEs) in adolescents. Methods: A total of 1 701 adolescents in grade 6-8 in three middle schools in Shanghai were selected by stratified cluster sampling, and were investigated anonymously using computer assisted self interview approach. Information including demographic characteristics, body image satisfaction, and ACEs were collected. The Chi square test and multivariate Logistic regression were used to explore the relationship between adolescent body image satisfaction and types of ACEs. Results: About 60.73% of the respondents were satisfied with their body image, with higher satisfaction among boys(66.16%) than among girls(55.13%)( χ 2= 21.70 ， P <0.01). About 79.19% of the respondents had experienced at least one ACE, and respectively 61.61%, 65.14% and 21.58 % of them had experienced abuse, neglect and family dysfunction. Multivariate Logistic regression analysis indicated that experiencing at least one ACE, abuse, neglect and family dysfunction were all related with low body image satisfaction among girls( OR =0.33- 0.57 , P <0.01), while among boys neglect,having 3 or more than 4 ACEs were found to be associated with body image satisfaction ( OR =0.54-0.64, P <0.05). The cumulative effects of ACEs on adolescent body image were observed. Conclusion Different types of ACEs are associated with body image in adolescents, ACEs have cumulative effects on adolescent body image, which shows gender differences.Screen of ACEs and improvement of family nurturing environment should be highlighted among adolescents, especially among girls.

Objective:To deepen the understanding of myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), and to improve the levels of precise diagnosis and individualized treatment.Methods:The clinical data and next-generation sequencing molecular cloning results of two MDS/MPN-RS-T patients who were admitted to the First People's Hospital of Chuzhou in October 2017 and November 2019 were retrospectively analyzed, and the related literature was reviewed.Results:Case 1 was a 76-year-old female. The mutation loads from high to low were DNMT3A, JAK2 V617F and SF3B1. After administration of hydroxyurea, this patient acquired amelioration in anemia, and the platelet count improved. The clinical course was indolent. Case 2 was a 66-year-old male, who was initially diagnosed with essential thrombocythemia but failed to acquire response after hydroxyurea treatment. MDS/MP-RS-T was diagnosed after comprehensive examination. The mutation loads from high to low were SF3B1, ASXL1, JAK2 V617F and SRSF2. Pancytopenia occurred after disease progression, and the JAK2 V617F mutation finally turned negative. Administration of erythropoietin and lenalidomide failed to improve the condition, but low-dose decitabine treatment (10 mg/d, 3-5 d, once a month) improved the hematopoiesis.Conclusions:The co-mutation of JAK2 V617F and SF3B1 has a suggestive effect on the diagnosis of MDS/MPN-RS-T, and dynamic next-generation sequencing is helpful to elucidate the molecular nature of clinical heterogeneity of the disease. Low-dose decitabine has a certain curative effect on MDS/MPN-RS-T.

Objective: To explore the relationship between gender role attitudes (GRA) and adolescent depression to provide evidence for the promotion of mental health among adolescents. Methods: A total of 1 549 students from grades 6 to 8 in three public middle schools in Jing an District of Shanghai were selected by stratified cluster sampling. The baseline and follow up surveys were conducted by anonymous electronic questionnaire on mobile tablets from November to December in 2017 and 2018, respectively. The GRA Scale and the Depression Scale were used to collect subjects attitudes towards traditional role assignment and power inequality between men and woman and depression in family and sexual relationships. The multivariate Generalized Estimating Equations (GEE) model was adopted to examine the relationship between GRA and depression. Results: The mean score of the GRA Scale was (2.52±0.83) and (2.29±0.86), while the score of Depression Scale was (15.92±5.08) and (16.48±5.29), in the baseline and follow up survey, respectively ( P <0.05). After controlling the covariates of age, bullied experience, body image, social cohesion, etc., the multivariate GEE model indicated traditional GRA was significantly associated with a higher risk of depression among both boys and girls ( β boys =0.38, β girls =0.41, P <0.05). Conclusion Traditional GRA may increase the risk of depression in adolescents, suggesting that cultivating a positive and equal GRA among this population group may help to prevent depression.

Objective: To explore the prevalence of sexting among secondary vocational school students and to examine the correlation between sexting and mental health, so as to provide evidence for prevention and intervention on adolescents mental health. Methods: In April 2021, three secondary vocational schools from central urban area, outskirts and outer suburbs in Shanghai, among 1 580 students were selected by cluster sampling. Results: The proportions of students who received and who forwarded others private photos or videos were 11.96% and 2.78%, respectively. The proportion of students who sent others personal photos or videos was 2.54%. And the proportions of boys were higher than those of girls ( χ 2=45.89, 24.09, 6.66, P <0.01). The results of multivariable Logistic analysis showed that compared with those who had never sexted, students who had ever had any sexting were at higher risk of anxiety ( OR=2.40, 95%CI =1.59-3.61), depression( OR=1.86, 95%CI =1.25-2.75), non suicidal self injury intention ( OR=2.34, 95%CI =1.48-3.69) and suicidal intention ( OR=2.96, 95%CI =1.83-4.79)( P < 0.05 ). Conclusion There is a significant correlation between sexting and mental health among secondary vocational school students. The latent risks of sexting should be included in the curriculum of comprehensive sex education for teenagers to enhance their media literacy and decision making capability, so as to prevent sexual assault or abuse caused by sexting and promote sexual and reproductive health and as well as mental health of adolescents.

Objective:To determine the clinical efficacy and safety of a fractional CO 2 laser and a 1 064 nm, Q-switched Nd∶YAG laser therapy in the treatment of xanthelasma palpebrarum. Methods:From October 2020 to October 2021, 30 patients (5 males and 25 females) with bilateralxanthelasma palpebrarum of the eyelid were enrolled in the Department of Dermatology, the First Affiliated Hospital of Xiamen University. The age ranged from 38 to 67 (51±7) years. One side was randomly treated with fractional CO 2 laser as the fractional group, and the other side was treated with Q-switch 1 064 nm Nd∶YAG laser as the Q-switch group. The treatment was given every 28 days for 4 times. Before treatment and 1 month after the last treatment, the general pictures were taken to compare the clinical effect. Skin ultrasound was used to measure the difference of tumor thickness before and after treatment. The incidence of adverse reactions, such as local scar, hyperpigmentation or hypopigmentation after inflammation, were recorded. Results:Under general photos, there was statistically significant difference in efficacy scores between the two groups before and after treatment ( Z=-3.082, P<0.05). By comparison of tumor thickness under skin ultrasound, the difference between the two groups before and after treatment was statistically significant ( t=21.60, P<0.05; t=17.29, P<0.05); there was no statistically significant difference between the two groups before treatment ( t=0.46, P=0.650), but there was statistically significant difference between the two groups after treatment ( t=8.41, P<0.001). No serious adverse reactions occurred in both groups. Conclusions:Fractional CO 2 laser or Q-switch 1 064 nm Nd∶YAG laser can safely and effectively improve xanthelasma palpebrarum, in which the effect of fractional CO 2 laser is much better.

Objective: To explore the influence of impulsive traits of adolescent on pornography use through the analysis of the Global Early Adolescent Study(GEAS) longitudinal survey data collected in Shanghai, and to provide evidence for adolescent sexual health promotion. Methods: Totally 1 512 students from grades 6 to 8 in three middle schools in a district of Shanghai were selected for the present study by stratified cluster sampling method. Baseline and two-wave follow-up investigation were conducted between 2017 and 2020. Three waves of pornography use and social demographic information were collected using electronic questionnaire through tablets while impulsivity were tested only once during the follow-up in 2018 using the paper and pencil based Barratt Impulsivity Scale, version11 (BIS-11). General statistical description and panel data statistical description, as well as multilevel mixed effect linear model were used to do the analysis. Results: About 32.7% (494) of the adolescents reported the experience of watching pornography in threewave analysis. Boys were more impulsive than girls in the motor subscale (16.33±3.25, 15.66±2.93, t=4.13, P<0.01) while girls were more impulsive than boys in the nonplanning subscale (23.65±5.11, 22.83±5.21, t=-3.03, P<0.01). Mixed effect linear model result showed that impulsivity was correlated with pornography use(β=0.001, P<0.01); higher impulsivity in motor and attention were correlated with more frequent pornography use(P<0.01). Being female, perceived more parental awareness and perceived care from school adults would decrease the use of pornography while spent more than 3 hours on internet would increase the use of pornography (P<0.01). Conclusion There are stable correlations between impulsivity and pornography use. It is urgent to equip young adolescents with the necessary ability to distinguish the good from the bad in the mass and internet media world.

Objective: To explore the association between adverse childhood experiences (ACEs) and adolescent alcohol use and to provide evidence for prevention and intervention. Methods: A total of 1 550 students from grades 6 to 8 in three public middle schools in a district of Shanghai were selected by stratified cluster sampling method. The baseline and follow up investigation were conducted by anonymous electronic questionnaire in mobile tablet from November to December in 2017 and 2018, respectively. The latent class analysis (LCA) was applied for the classification of ACEs, while the multivariate generalized estimating Equations (GEE) model was adopted to examine the association between ACEs and adolescent alcohol use. Results: The ACEs was divided into 3 classes by LCA: high exposure (8.97%), abuse and neglect (38.97%), low exposure (52.06%). The multivariate GEE model indicates the risk of alcohol drinking among adolescents in high exposure and abuse and neglect classes were significantly higher than their counterparts in low exposure class ( OR=2.65, 95%CI=1.72-4.07; OR=1.50, 95%CI =1.14-1.96, respectively). Conclusion The effect of ACEs on alcohol use may vary across different latent classes. Supportive childhood environment may contribute to decrease the risk of adolescent drinking behavior.

Objective:To analyze the anatomical morphological characteristics of the trabecular bone of human mandibular condyle by observing the distribution of volume of interests (VOI).Methods:The micro-CT images of a right condyle specimen of a 61-year-old adult male was analyzed in this study. The cylindrical VOI with both diameter and height of 2 mm were arranged, according to a certain pattern, as many as possible at various levels within the trabecular bone of the condyle. Each VOI had no intersection area. The selected VOI were divided into 5 parts: medial part, middle part, lateral part, anterior part and posterior part, with 6 layers from top to bottom. And the distribution of the overall anatomical morphological characteristics of three-dimensional (3D) images of the trabecular bone of the condyle was analyzed by using seven morphological parameters of each VOI, i.e. bone mineral density (BMD), bone volume/total volume (BV/TV), bone surface area/bone volume (BS/BV), trabecular thickness (Tb.Th), trabecular bone number (Tb.N), trabecular spacing (Tb.Sp) and trabecular bone pattern factor (Tb.Pf).Results:In the present study, totally 34 VOI were selected from the condyle specimen.The morphological distribution of the VOI was uneven in the 3D structure of the trabecular bone of the human condyle. BMD, BV/TV, Tb.N and Tb.Th were much higher at the middle part, while showed the smallest at the medial part. The anterior part demonstrated much higher parameters than the posterior part at the first, second, fifth and sixth layers, respectively, however, the posterior part showed much higher parameters than the anterior part at the third and fourth layers, respectively. The BMD was much higher at the first [(332.66±97.11) mg/cm 3] and sixth [(255.79±45.68) mg/cm 3] layers, while the lowest at the second layer [(255.79±41.06) mg/cm 3]. The BV/TV and Tb.N were much higher at the first layer, with the lowest at the fifth layer. The Tb.Th at the first layer [(0.11±0.03) mm] was much higher than the others, which were similarly lower. The BS/BV, Tb.Sp and Tb.Pf were lower at the first layer and much higher at the medial and lateral parts, while were lower at the middle and anterior parts. The posterior part demonstrated much higher BS/BV, Tb.Sp and Tb.Pf than the anterior part at the first, fifth and sixth layers, respectively. However, the anterior part showed much higher scores than the posterior part at the third and fourth layers, respectively. The ANOVA results showed that the 7 morphological parameters of VOI were not statistically significant amongst the 6 layers ( P>0.05). However, the 6 out of the 7 parameters, i.e. BV/TV, BS/BV, Tb.Th, Tb.N, Tb.Sp and Tb.Pf, were statistically significant amongst the five parts ( P<0.05), while the only parameter of BMD was not statistically significant ( P>0.05). Conclusions:The anatomical distribution characteristics of the trabecular bone of condyle were analyzed by using 3D imaging measurement based on the VOI. The results showed uneven distributions and indicated that the method of dividing the trabecular bone of mandibular condyle into VOI sets, which accorded with its specific anatomical characteristics, was feasible for further reference.