1.A de novel mutation of the HSD17B4-related peroxisome D-bifunctional protein deficiency in a family and literature review
Qiulian XIANG ; Hu GUO ; Xiucheng GAO ; Lulu ZHOU ; Jianmin SONG ; Xiaopeng LU
Chinese Journal of Applied Clinical Pediatrics 2021;36(10):772-775
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.
2.An epidemiological survey of mental disorders among people aged 18 and above in Shandong Province
Ruzhan WANG ; Jingxuan ZHANG ; Yanhu WANG ; Can WANG ; Xiuzhe CHEN ; Guolin MI ; Xu CHEN ; Xiaojing CHENG ; Lina WANG ; Lili HU ; Lingxi GU ; Shiquan ZHENG ; Lan DONG ; Ligang WANG ; Li CHEN ; Wu LI ; Yanhua LIU ; Jun ZHU ; Yanmei WANG ; Qinghua WEN ; Xiaopeng LI ; Yusheng ZHANG ; Zongyin HOU ; Xiuru ZHANG ; Tingxia ZHANG ; Sumei GUO ; Xiucheng YANG
Chinese Journal of Psychiatry 2021;54(2):138-146
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.
3.An epidemiological survey of mental disorders among people aged 18 and above in Shandong Province
Ruzhan WANG ; Jingxuan ZHANG ; Yanhu WANG ; Can WANG ; Xiuzhe CHEN ; Guolin MI ; Xu CHEN ; Xiaojing CHENG ; Lina WANG ; Lili HU ; Lingxi GU ; Shiquan ZHENG ; Lan DONG ; Ligang WANG ; Li CHEN ; Wu LI ; Yanhua LIU ; Jun ZHU ; Yanmei WANG ; Qinghua WEN ; Xiaopeng LI ; Yusheng ZHANG ; Zongyin HOU ; Xiuru ZHANG ; Tingxia ZHANG ; Sumei GUO ; Xiucheng YANG
Chinese Journal of Psychiatry 2021;54(2):138-146
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.
4.Clinical application and research progress of All-on-Four
Journal of Prevention and Treatment for Stomatological Diseases 2017;25(7):409-413
To seek convenient and effective method for reconstruction of edentulous jaw, Maló and his colleagues developed All-on-Four implant immediate-function concept. The principle of All-on-Four is to support the full-arch prosthesis by 4 implants and to achieve immediate loading after surgery. Its advantages include avoiding additional bone grafting, evading critical anatomical structures and immediate prosthesis. In recent years, All-on-Four technique has been widely utilized in clinical practice as a viable approach for edentulous patients. With the auxiliary of guided surgery and biomechanical researches, All-on-Four has achieved predictable clinical results. In this paper, the development, investigation of biomechanics and main points of surgery and prosthesis of All-on-Four were briefly reviewed.


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