Objective:To investigate the clinical and genetic characteristics of peroxisome D-bifunctional protein deficiency (PDBPD) associated with HSD17B4 mutation. Methods:The clinical and genetic characteristics of 2 cases of PDBPD in August 2020, at Children′s Hospital Affiliated to Nanjing Medical University caused by HSD17B4 gene mutation were retrospectively analyzed. Results:Male proband and his sister suffered from neonatal epilepsy, psychomotor development disorders, ataxia, myasthenia, hearing impairment, and foot deformity.The very long chain fatty acids in serum were normal, and brain magnetic resonance imaging (MRI) showed bilateral cerebellar hemisphere atrophy.Electromyography suggested changes in the myoelectricity of multiple peripheral neurogenic lesions.Auditory evoked potential displayed severe bilateral sensorineural hearing loss.Exome sequencing identified compound heterozygous mutations (c.1171G > C, c.686-2A>T) in HSD17B4.The clinical diagnosis was PDBPD, aged 8 and 14 years, respectively. Conclusions:Two cases of HSD17B4 mutation-induced PDBPD were first reported in Chinese mainland, which was in line with its typical clinical manifestations.The newly discovered c. 1171G> C and c. 686-2A>T mutations enriched the HSD17B4 mutation spectrum.

Objective:This study aims to investigate the prevalence and distribution characteristics of mental disorders among people aged 18 and above in Shandong Province.Methods:In 2015, an epidemiological survey was carried out to investigate the patterns of mental disorders in 49 counties of Shandong Province. A total of 28 000 individuals aged 18 years or older were selected using the multistage stratified cluster sampling method. All these participants were classified as at a high or low risk of mental disorders according to the assessment results of the revised version of the General Health Questionnaire (GHQ). The diagnosis of mental disorders was confirmed using the Structured Clinical Interview for Diagnostic and Statistical Manual, Forth edition (DSM-Ⅳ) axis I or MMSE. All participants at high risk of mental disorders were evaluated using DSM-Ⅳ or MMSE to confirm the psychiatric diagnoses, while 10% of participants at low risk of mental disorders were randomly selected to be evaluated. The prevalence and its 95% confidence interval of mental disorders were adjusted according to study design and sociodemographic characteristics of the sample. The between-group differences of prevalence were compared using chi-square tests or Fisher′s exact tests as appropriately.Results:A total of 27 489 individuals completed survey. The adjusted prevalence of any mental disorder was 17.46% (95 %CI 17.02%-17.89%). The five most prevalent mental disorder spectrums were substance use disorders (5.29%), mood disorders (4.47%), anxiety disorders (4.46%), intellectual and mental disorders due to physical or substance (1.91%), and psychotic disorders (1.12%). The most common mental disorders were alcohol use disorder (5.27%) and major depressive disorder (2.14%). The prevalence of mental disorders in men was higher than that in women (23.37% vs. 13.89%; χ 2=408.91, P<0.01). There was no significant difference in the prevalence of mental disorders between rural residents and urban residents (17.69% vs. 17.20%; χ2=1.05, P=0.305). Of participants with mental disorders, 26.12% (1 047/4 008) had moderate to severe functional impairment and 10.98% (428/3 898) have sought professional help. Conclusion:The prevalence of mental disorders among people aged 18 and above in Shandong Province is basically consistent with the results of similar domestic studies. The prevalence of mental disorder was higher in men than in women and was not differ in participants living in urban and rural areas. Alcohol use disorder, major depressive disorder, non-specific anxiety disorder and non-specific depressive disorder are most common mental disorders.

Objective:This study aims to investigate the prevalence and distribution characteristics of mental disorders among people aged 18 and above in Shandong Province.Methods:In 2015, an epidemiological survey was carried out to investigate the patterns of mental disorders in 49 counties of Shandong Province. A total of 28 000 individuals aged 18 years or older were selected using the multistage stratified cluster sampling method. All these participants were classified as at a high or low risk of mental disorders according to the assessment results of the revised version of the General Health Questionnaire (GHQ). The diagnosis of mental disorders was confirmed using the Structured Clinical Interview for Diagnostic and Statistical Manual, Forth edition (DSM-Ⅳ) axis I or MMSE. All participants at high risk of mental disorders were evaluated using DSM-Ⅳ or MMSE to confirm the psychiatric diagnoses, while 10% of participants at low risk of mental disorders were randomly selected to be evaluated. The prevalence and its 95% confidence interval of mental disorders were adjusted according to study design and sociodemographic characteristics of the sample. The between-group differences of prevalence were compared using chi-square tests or Fisher′s exact tests as appropriately.Results:A total of 27 489 individuals completed survey. The adjusted prevalence of any mental disorder was 17.46% (95 %CI 17.02%-17.89%). The five most prevalent mental disorder spectrums were substance use disorders (5.29%), mood disorders (4.47%), anxiety disorders (4.46%), intellectual and mental disorders due to physical or substance (1.91%), and psychotic disorders (1.12%). The most common mental disorders were alcohol use disorder (5.27%) and major depressive disorder (2.14%). The prevalence of mental disorders in men was higher than that in women (23.37% vs. 13.89%; χ 2=408.91, P<0.01). There was no significant difference in the prevalence of mental disorders between rural residents and urban residents (17.69% vs. 17.20%; χ2=1.05, P=0.305). Of participants with mental disorders, 26.12% (1 047/4 008) had moderate to severe functional impairment and 10.98% (428/3 898) have sought professional help. Conclusion:The prevalence of mental disorders among people aged 18 and above in Shandong Province is basically consistent with the results of similar domestic studies. The prevalence of mental disorder was higher in men than in women and was not differ in participants living in urban and rural areas. Alcohol use disorder, major depressive disorder, non-specific anxiety disorder and non-specific depressive disorder are most common mental disorders.

[Objective]To reconstruct anterior cruciate ligament (ACL) by using ligament advanced reinforcement system(LARS),and to investigate the integration of LARS artificial ligament with bone interface in the animals with regard to imageology, biomechanics and histology.[Method]Twenty-four Boer goats were randomly divided into three groups. The animal mode of ACL reconstruction was established by clinical ACL reconstruction system. Gross observation was made, and histological, imageological and biomechanical changes were observed at 4, 8 and 12 weeks after surgery, respectively. Statistical analysis was performed.[Result](1)At 4 weeks after surgery,ligament-bone interface had great amount of loose bindweb and infiltration of chronic inflammation cells. At 8 weeks after surgery, there was new bone formation. Part of samples had Sharpey fibers. At 12 weeks after surgery, Sharpey fibers.and a large number of fibroblasts were noted in the interface between LARS artificial ligament and bone interface. But calcified cartilage was not founded.(2)The imageology examination for group 3 was made at 4, 8 and 12 weeks after surgery. The data were analyzed statistically by the image processing software of eflime,and there was evident statistical difference (P0.05 ) .[Conclusion]After ACL reconstruction by LARS artificial ligament, indirect connection developed via Sharpey fibers in bone tunnel at the end of LARS artificial ligament and bone interface. The integration of LARS artificial ligament with bone interface has been improved and its intensity is increased.