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1.
Psychiatry Investigation ; : 689-695, 2023.
Article in English | WPRIM | ID: wpr-1002719

ABSTRACT

Objective@#A growing body of research suggests the presence of alexithymia (a form of social cognitive impairment) in patients with schizophrenia (SCZ), which may be related to their psychopathological symptoms. Patients with SCZ exhibit high rates of obesity. Interestingly, studies of the general population have found that alexithymia acts a pivotal role in the development and maintenance of obesity. However, little is known regarding the relationship between obesity, alexithymia, and clinical symptoms in SCZ patients. The study was aim to explore the relationship between obesity, alexithymia, and clinical symptoms in SCZ patients. @*Methods@#Demographic and clinical data were collected from 507 patients with chronic SCZ. Their symptoms were assessed with the Positive and Negative Syndrome Scale (PANSS), and alexithymia was assessed with the Toronto Alexithymia Scale (TAS). @*Results@#Compare with nonobese SCZ patients, obese SCZ patients scored higher on PANSS positive symptoms, TAS total score, difficulty identifying feelings, and difficulty describing feelings (all p<0.05). Correlation analysis revealed a significant association between difficulty identifying feelings and positive symptoms in SCZ patients. Further correlation analysis showed that this association was only present in obese SCZ patients (p<0.05). @*Conclusion@#Obesity may moderate the association between alexithymia and positive symptoms in chronic SCZ patients.

2.
Chinese Journal of School Health ; (12): 1418-1422, 2023.
Article in Chinese | WPRIM | ID: wpr-996326

ABSTRACT

Abstract@#The prevalence of mental health problems in children and adolescents has been gradually increasing, which has become an important public health problem related to the future of the country and the nation. However, mental disorder rarely exists independently, and comorbidity often occurs, which brings great harm and burden to individuals, families and society. This study introduces the prevalence, burden, characteristics and manifestations of different types of comorbidity with mental disorders as the core. Then it explaines the main causes and mechanisms of comorbidity, and proposes future research directions.

3.
Chinese Journal of School Health ; (12): 1399-1402, 2023.
Article in Chinese | WPRIM | ID: wpr-996311

ABSTRACT

Objective@#To understand the current situation and influencing factors of scoliosis in 12-year-old students from Inner Mongolia Autonomous Region, so as to provide scientific basis for accurate prevention and control of abnormal spinal curvature.@*Methods@#From October to November 2021, a total of 18 399 students aged 12 were selected by region and school level by stratified random cluster sampling method, and spinal curvature screening and questionnaire survey of common diseases and health influencing factors among students were carried out. Chi squared test was used for single factor analysis, and binary Logistic regression model was used for multi factor analysis.@*Results@#A total of 397 students (2.2%) were detected with abnormal curvature of the spine, including 368 students (2.0%) with scoliosis. Among them, 205 cases were in the lumbar thoracic segment with a detection rate of 1.1%, 173 cases were in the thoracic segment with a detection rate of 0.9%, and 141 cases were in lumbar thoracic segment with a detection rate of 0.8%. Binary Logistic regression analysis showed that urban area, economic area(moderate), attending tutorial classes before primary school and class seats never changed regularly were positively correlated with the occurrence of scoliosis among 12 year old students ( OR =1.95,1.67,1.76,1.71, P <0.05). Obesity, attending an average of 3 or 4 physical education classes per week, attending physical fitness and beauty classes before primary school were negatively correlated with the occurrence of scoliosis among 12 year old students ( OR =0.69,0.31,0.36,0.71, P <0.05).@*Conclusion@#The prevalence of scoliosis among 12-year-old students in Inner Mongolia Autonomous Region is not optimistic. It should pay attention to the prevention and control of scoliosis in students before the age of 12, actively prevent the occurrence and progress of scoliosis.

4.
Chinese Journal of Medical Genetics ; (6): 871-875, 2023.
Article in Chinese | WPRIM | ID: wpr-981839

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree.@*METHODS@#A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4).@*CONCLUSION@#The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.


Subject(s)
Female , Humans , Pedigree , Muscle Hypotonia , Hearing Loss, Sensorineural , Protein Deficiency , Mutation
5.
Chinese Journal of Medical Genetics ; (6): 696-700, 2023.
Article in Chinese | WPRIM | ID: wpr-981810

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51).@*METHODS@#A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic.@*CONCLUSION@#The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.


Subject(s)
Humans , Female , Child, Preschool , Intellectual Disability/genetics , Autism Spectrum Disorder/genetics , Mutation
6.
Chinese Journal of School Health ; (12): 1313-1318, 2023.
Article in Chinese | WPRIM | ID: wpr-988846

ABSTRACT

Objective@#To explore the epidemiological trend of overweight and obesity, elevated blood pressure and their comorbidities in children and adolescents from Inner Mongolia Autonomous Region during 2016-2021, and to analyze its association with lifestyle, so as to provide reference for formulating prevention and control strategies of regional common comorbidities in schools.@*Methods@#A total of 8 908, 8 222, 9 448, 127 068, 100 778, and 138 540 students aged 10-18 years in Inner Mongolia were selected by stratified random cluster sampling in September each year from 2016 to 2021. Physical examination and questionnaire survey were conducted on the included students. The prevalence trends of overweight,obesity, elevated blood pressure and their co-occurrence were analyzed. Logistic regression was used to compare the prevalence of elevated blood pressure in different body mass index (BMI) groups. After excluding individuals without lifestyle information in 2021, Logistic regression analysis was used on 136 374 subjects to analyze the association between overweight,obesity, elevated blood pressure and their co-occurrence and lifestyle factors.@*Results@#During 2016 to 2021, the prevalence of comorbidity of overweight, obesity with elevated blood pressure among students in Inner Mongolia Autonomous Region were 5.04%,5.14%,4.99%,7.51%,7.60% and 9.45%, respectively . The prevalence of overweight and obesity was 26.94%, 28.07%, 29.62%, 34.19%, 36.71% and 37.53%, respectively. The prevalence of elevated blood pressure were 16.05%, 11.54%, 13.12%, 14.85%, 14.12% and 18.40%, respectively. Except for 2016, the risk of elevated blood pressure in overweight and obese people was higher than that in normal BMI group in other years, and there was a positive correlation between overweight and obesity and elevated blood pressure after gender and urban and rural areas ( P < 0.05 ). In 2021, the detection rate of comorbidity of overweight and obesity with elevated blood pressure among children and adolescents in urban areas was higher than that in suburban counties, and the reporting rate of healthy lifestyle was lower than that in suburban counties ( P <0.05).Skipping breakfast ( OR =1.11,95% CI =1.07-1.16) and non daily moderate and high intensity physical activity( OR =1.27,95% CI =1.20-1.34) were positively correlated with the co-occurrence of overweight,obesity and elevated blood pressure among children and adolescents in Inner Mongolia Autonomous Region. Non daily moderate and high intensity physical activity ≥60 min was positively correlated with elevated blood pressure ( OR =1.11,95% CI =1.07-1.16), and insufficient sleep was positively correlated with overweight,obesity ( OR =1.04, 95% CI =1.01-1.06)( P <0.05).@*Conclusion@#The prevalence of overweight,obesity, elevated blood pressure and their co-occurrence among children and adolescents in Inner Mongolia Autonomous Region is relatively high. Overweight/obesity is an important risk factor for elevated blood pressure, and unhealthy lifestyles are risk factors for co-occurrence of overweight,obesity and elevated blood pressure. Region specific lifestyle interventions are indispensable for the prevention and control of regional common comorbidities. Urban areas may be a key focus for lifestyle interventions.

7.
Chinese Journal of School Health ; (12): 1308-1312, 2023.
Article in Chinese | WPRIM | ID: wpr-988845

ABSTRACT

Objective@#To analyze the prevalence of overweight, obesity and depression among students in the Inner Mongolia Autonomous Region in 2019-2022 and explore the relevant factors affecting the co-morbidity of overweight,obesity and depression among students, so as to provide scientific basis for the prevention of co-morbidity.@*Methods@#From September 2019 to 2022, used stratified random cluster sampling, 90 519,71 560,90 079,91 089 students were selected from all 12 leagues in Inner Mongolia Autonomous Region for questionnaire survey and physical examination. The χ 2 test was used for demographic characteristics and univariate analysis, and a binary Logistic regression model was used to explore the association between lifestyle behaviors and co-morbidity.@*Results@#The detection rate of overweight,obesity among students from 2019-2022 was 29.21%,34.38%,35.20%,34.61%, the detection rate of depression was 18.35%,17.53%,16.43%,16.00%, and the co-morbidity detection rate of the two was 5.52%,5.93%,5.76%,5.46%. The number of overweight,obesity and depression co-morbidity students in 2022 was 4 978 students, and the co-morbidity detection rates of the students were significantly different in terms of the school segments and the family structures ( χ 2=103.51, 99.90, P <0.01). Multivariate Logistic regression analysis showed that consuming sugar sweetened beverages or fried food ≥1 time/d, sometimes or never eat breakfast, watching computer or TV ≥2 h/d, and less than 1 h of moderate-to-vigorous physical activity on weekends were positively correlated with the occurrence of the co-morbidity of overweight,obesity and depression, with the value of OR ranging from 1.17 to 1.59 ( P <0.05). Eated fresh fruits or drinking milk and soy milk ≥1 time/d, outdoor activities ≥1 h/d, sleep ≥8 h/d, not smoking and not drinking alcohol were negatively correlated with the occurrence of comorbid overweight,obesity and depression, with the value of OR ranging from 0.47 to 0.92 ( P < 0.05).@*Conclusion@#The occurrence of overweight,obesity and depressive symptoms co-morbidity in students is associated with dietary, exercise and lifestyle behavior. Targeted measures should be taken to maintain students healthy weight and prevent the occurrence of depression from the aspects of diet, exercise and life habits.

8.
Chinese Journal of School Health ; (12): 1304-1307, 2023.
Article in Chinese | WPRIM | ID: wpr-988836

ABSTRACT

Objective@#To investigate the correlation between school bullying and depressive symptoms comorbidity and dietary patterns among middle school students in Inner Mongolia Autonomous Region from 2021, so as to provide reference for the prevention of school bullying and depressive symptoms.@*Methods@#In September 2021, stratified random cluster sampling was used to select 87 414 middle school students in 12 leagues in Inner Mongolia Autonomous Region. The Center for Epidemiologic Studies Depression Scale (CES-D) was used to assess depression, and the bullying was determined according to the items related to bullying in the program of Chinese National Surveillance on Students Common Diseases and Risk Factors.@*Results@#In 2021, the detection rate of depressive symptoms among middle school students in Inner Mongolia Autonomous Region was 15.24%, school bullying was 3.02%, and the co-occurrence of school bullying and depression was 1.64%. Binary Logistic regression analysis showed that junior high school students ( OR =1.52) and girls ( OR =1.10) were more likely to suffer from comorbidity of school bullying and depression ( P < 0.05). Eating fried food less than one and more than once a day, smoking and drinking were positively correlated with school bullying and depression comorbidity ( OR =2.15,2.11,2.14,1.70, P <0.05).@*Conclusion@#The combination of bullying and depression among middle school students in Inner Mongolia Autonomous Region is affected by various dietary methods. In terms of diet, reducing the intake of fried food, no smoking, no drinking can effectively reduce the incidence of co-occurrence school bullying and depression.

9.
Chinese Journal of School Health ; (12): 1299-1303, 2023.
Article in Chinese | WPRIM | ID: wpr-988821

ABSTRACT

Objective@#To describe the current status of the prevalence of co-morbid myopia and obesity among 7-18 years students in the Inner Mongolia Autonomous Region in 2021 and to analyze the moderating effect of lifestyle in this association ,so as to provide scientific basis for the establishment of the mechanism of Co-morbidity,Shared Etiology,and Shared Prevention of common diseases in children and adolescents.@*Methods@#A total of 139 630 primary and secondary school students aged 7-18 years from Inner Mongolia Autonomous Region were selected by stratified random cluster sampling method in September,2021. Myopia was determined using distance visual acuity examination and refractive error examination, and obesity was determined according to the BMI classification criteria for overweight, obesity screening of Chinese school age children and adolescents. Used a questionnaire, healthy lifestyles were determined according to the American Heart Association s Healthy Lifestyle Score by totaling the six scores for smoking, alcohol consumption, diet, exercise, screen time, and sleep duration.The χ 2 test was used to compare the association between group differences in the co-morbidity rate of myopia and obesity. The multivariable Logistic regression model was used to explore the influencing factors of the co-morbidity of myopia and obesity, and the stratified analysis was used to analyze the moderating effect of lifestyles on the prevalence of the co-morbidity.@*Results@#The prevalence of myopia and obesity co-morbidity among students aged 7-18 years old in the Inner Mongolia Autonmous Region in 2021 was 13.7%, higher among boys than girls ( 15.5 % vs. 11.8%), higher among those aged 10-12 years old than 7-9,13-15,and 16-18 years old (14.7%,13.7%, 13.3%, 12.0%), higher among other ethnic minorities than Han Chinese and Mongolians (15.3%, 14.0%, 12.5%), higher in urban areas than that in suburban areas(15.3%, 13.0%), and middle economic level tracts were higher than poor and good tracts (14.8%, 12.9 %, 12.6%) ( χ 2=392.37,115.73,62.80,119.02,121.60, P <0.05). Multivariable Logistic regression modeling showed that unhealthy lifestyles ( OR=1.24, 95%CI=1.19-1.29 ) and middle level of lifestyle score ( OR=1.15, 95%CI=1.10-1.19 ) students had higher prevalence of co-morbidity, and the results were statistically significant among both boys and girls, the age groups of 10- 12, 13-15, and 16-18 years old, as well as the Han and Mongolian ethnic groups (all P <0.05).@*Conclusion@#In 2021, the current situation of myopia and obesity co-morbidity and unhealthy lifestyles among primary and secondary school students in the Inner Mongolia Autonomous Region are not optimistic.

10.
Chinese Journal of School Health ; (12): 1294-1298, 2023.
Article in Chinese | WPRIM | ID: wpr-988818

ABSTRACT

Objective@#To investigate the prevalence of Internet addiction and depression of students, and to analyze the co-occurrence and trend, so as to provide a theoretical basis for prevention and controlling measures of Internet addiction and depression.@*Methods@#A total of 6 317,7 152,81 808,71 180 and 89 932 students aged 10 to 24 years from 12 leagues (103 banners) in Inner Mongolia Autonomous Region were selected by stratified random cluster sampling in September each year from 2017 to 2021. The Internet Addiction Scale and the Central for Epidemiologic Studies Depression Scale(CES-D) was used to measure Internet addiction and depression. And the annual inspection rate, group difference and annual change trend in students were calculated. Multivariate linear regression and restricted cubic spline analysis were used to estimate the linear and non linear associations between Internet addiction and depression in students.@*Results@#The Internet addiction proportion in students gradually decreased from 4.1% in 2017 to 2.1% in 2020, but increased to 3.9% in 2021. And the depressive symptoms proportion increased from 20.9% in 2017 to 28.0% in 2020 and 27.0% in 2021. The detection rate of Internet addiction and depression comorbidities remained at 1.8% to 2.5 %. The Internet addiction proportion in boys was higher than that in girls( χ 2=42.82, P <0.05). The depressive symptoms prevalence in girls was higher than that in boys( χ 2= 553.90, P <0.05). Taking reversal in prevalence of Internet addiction in urban and rural areas was observed in 2019. The detection rates of depressive symptoms and comorbidity were higher in urban areas than these in suburban counties on the whole, and the difference showed a trend of decreasing or even equalizing year by year. Internet addiction was positively correlated with depressive symptoms score ( B=1.67, 95%CI =1.64-1.71), the proportion of depressive symptoms ( OR=1.39, 95%CI =1.38-1.41) and the proportion of major depressive symptoms ( OR=1.35, 95%CI =1.33-1.36) among students in 2021 ( P <0.05). An N-shaped curve was found in the significant nonlinear associations between internet addiction and depression across sex, region and school stage.@*Conclusion@#Internet addiction and depression in students show significant linear and non-linear associations, which are consistent in different sexes, regions and school stages. Therefore, relevant measures should be made and implemented in each region, especially in suburb areas, so as to prevent the increasingly development of adolescents and children s Internet addiction and depression.

11.
Chinese Journal of School Health ; (12): 1289-1293, 2023.
Article in Chinese | WPRIM | ID: wpr-988817

ABSTRACT

Objective@#To analyze the prevalence trend of scoliosis among myopic students in Inner Mongolia Autonomous Region during 2019-2022, to explore the common etiology of myopia and scoliosis co-morbidities, so as to provide a reference for the development of relevant measures.@*Methods@#The method of stratified random cluster sampling was used to select 181 533, 141 552 , 200 987, 190 918 primary and secondary school students from 12 leagues(103 banners) in Inner Mongolia Atuonomous Region in September each year from 2019 to 2022. And scoliosis screening, vision examination and questionnaire survey were conducted among students in the included studies. The χ 2 test was used to analyze the data, and the binary multivariate Logistic regression model was used to screen the influencing factors of scoliosis and myopia co-morbidities.@*Results@#From 2019 to 2022, the myopia rate of primary and secondary school students in Inner Mongolia Autonomous Region was 55.55%-59.72%, scoliosis rate was 1.56 %-2.81% and the rates of scoliosis and myopia co-morbidities were 1.14%-1.95%, and the difference between different years was statistically significant ( χ 2=595.01, 775.56, 461.84, P < 0.05 ). In 2022, the co-morbidity rate was higher in girls than in boys(1.32% vs 0.97%), the rate of urban areas was higher than that of rural areas(2.57% vs 0.62%), the rate of students in vocational high school and high school was higher than that in junior high school and primary school (3.82%,2.47% vs 1.70%,0.42%), the rate of over developed areas was higher than that of poor areas (1.21% vs 0.99%)( χ 2=52.19, 1 269.82, 1 361.52, 17.29, P < 0.05 ). Logistic regression analysis showed that at least 1 h of moderate and high intensity exercise every day on weekends, the number of physical education classes per week was more than 3 sessions, the height of desks and chairs was adjusted according to height, resting outdoors, limiting screen time, and strictly requiring standing and sitting posture were the negative correlated with scoliosis and myopia, and the OR value was 0.65-0.90, reading books or electronic screens while participating in cram classes, walking or riding in the car were positively correlated with comorbid scoliosis and myopia, and the OR values were 1.27 and 1.13 ( P < 0.05), respectively.@*Conclusion@#Behavioral habits severely affect scoliosis and myopic of students. Prevention and control of scoliosis and myopia co-morbidity should start with students behavioral habits, early screening and early intervention.

12.
Chinese Journal of School Health ; (12): 447-450, 2023.
Article in Chinese | WPRIM | ID: wpr-965910

ABSTRACT

Objective@#To investigate the incidence of abnormal spinal curvature and related factors among middle school students in the Inner Mongolia Autonomous Region, so as to provide evidence for abnormal spinal curvature prevention and treatment.@*Methods@#By using a random stratified cluster sampling method, 87 908 students of middle and high school students from all 12 counties(districts) were investigated via questionnaires for abnormal spinal curvature and health influencing factors in Inner Mongolia Autonomous Region. Chi square test was used to perform demographic characteristics and univariate analysis, and binary multivariate Logistic regression model was used to screen the risk factors for spinal curvature abnormalities in middle school students.@*Results@#A total of 3 131(3.56%) students with spinal curvature abnormalities were detected, with boys (3.69%) higher than that of girls(3.44%), urban areas (6.15%) higher than that of the suburban counties (2.50%), and high school students ( 4.97 %) higher than that of junior high school(2.73%) students( χ 2=4.01, 702.19, 299.36, P <0.05). The detectable rate of spinal curvature abnormalities increased with grade ( χ 2 trend =309.29, P <0.05). Logistic regression analysis showed that factors influencing abnormal spinal curvature included myopia, overweight, obesity, the frequency of classroom seating arrangements, time spent on homework/reading after school every day, time spent in daytime outdoor activities, self imposed requirements for posture of sitting and standing, phase of studying, gender, and area ( OR =0.53-2.55, P <0.05).@*Conclusion@#Abnormal spinal curvature is strongly correlated to nutritional status, myopia, sitting posture when reading and writing, sedentary time, and time spent in outdoor activities. The collaboration of multiple departments is required to establish anenvironment to protect the spine, early detection and early intervention.

13.
Chinese Journal of School Health ; (12): 295-298, 2023.
Article in Chinese | WPRIM | ID: wpr-964445

ABSTRACT

Objective@#To investigate the incidence and associated factors of spinal curvature disorders among primary and middle school students in Hohhot, so as to provide reference for relevant prevention strategies.@*Methods@#According to the monitoring and intervention work of students common diseases in Inner Mongolia Autonomous, 13 586 primary and middle school students in Hohhot were selected by random sampling method to carry out scoliosis examination in September 2021.@*Results@#A total of 538( 4.0% ) students were found to have spinal curvature disorder. Multivariate Logistic regression analysis showed that monitoring site, phases of studying, and persistent back pain in the past 1 month were associated of spinal curvature disorder in primary and middle school students ( OR =0.33, 1.74, 1.28, 1.51, P <0.05).@*Conclusion@#Spinal curvature disorder is relatively common in primary and middle school students in Hohhot. Effective measures should be taken to reduce the burden of spinal curvature disorders in primary and middle school students.

14.
Chinese Journal of Medical Genetics ; (6): 1301-1305, 2023.
Article in Chinese | WPRIM | ID: wpr-1009294

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with optic atrophy and global developmental delay.@*METHODS@#A child who had presented at the Guangzhou Women and Children's Medical Center in January 2022 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a nine-month-old female, had manifested dysopia and global developmental delay. Genetic testing revealed that she has harbored a de novo c.425G>C (p.Arg142Pro) variant of the NR2F1 gene, which has been associated with Bosch-Boonstra-Schaaf syndrome. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PM1+PM2_Supporting+PM5+PP3+PP4).@*CONCLUSION@#The c.425G>C (p.Arg142Pro) variant of the NR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.


Subject(s)
Female , Humans , Infant , Computational Biology , COUP Transcription Factor I/genetics , Genetic Testing , Genomics , Genotype , Optic Atrophy/genetics
15.
Chinese Journal of Medical Genetics ; (6): 1288-1291, 2023.
Article in Chinese | WPRIM | ID: wpr-1009291

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring global developmental disorder with epilepsy.@*METHODS@#A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance.@*CONCLUSION@#The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.


Subject(s)
Child, Preschool , Female , Humans , Computational Biology , Developmental Disabilities , Epilepsy/genetics , Genetic Testing , Homozygote
16.
Chinese Journal of School Health ; (12): 1076-1079, 2023.
Article in Chinese | WPRIM | ID: wpr-985419

ABSTRACT

Objective@#To analyze the prevalence and trend of myopia among children and adolescents in Inner Mongolia from 2019 to 2021,so as to provide a reference for making scientific and effective prevention and controlling measures of myopia.@*Methods@#By using the stratified random cluster sampling method, 555 093 children and adolescents were selected from 12 professional institutions in league cities of the whole region for remote vision examination and refractive examination. The refraction test was carried out under the condition of non-Ciliary muscle paralysis using a desktop automatic computer optometer. Chi-squared test and multivariate Logistic regression were used to analyze the myopia status of children and adolescents and its influencing factors.@*Results@#From 2019 to 2021, the myopia rate of children and adolescents was 53.30%, 58.65% and 54.82%, respectively, the difference was statistically significant ( χ 2=991.70, P <0.01). The overall female myopia rate(58.82%) was higher than that of male (51.52%), and the differece was statistical significant ( χ 2=3 295.66, P <0.05). The myopia rates of boys and girls by year were 49.44% and 57.30%, 54.76% and 62.60%, 51.23% and 57.62%, respectively, and the differences were statistically significant ( χ 2=1 197.02, 922.31, 1 172.09, P <0.01). The overall myopia rate of urban students (59.42%) was higher than that of suburban counties (53.61%), and the difference was statistically significant ( χ 2=1 565.03, P <0.05). The myopia rates of children and adolescentss in urban and suburban counties were 59.20% and 50.79%, 60.26% and 57.88%, 58.95% and 53.36%, and the differences were statistically significant ( χ 2=1 150.80, 74.10, 529.25, P <0.01). The children and adolescents of learning stages were of statistical significance ( χ 2=92 402.39, P <0.05), and the overall myopia rate of senior school students was the highest, accounting for 83.57%. The difference of overall myopia rates of different age groups was of statistical significance ( χ 2=121 881.67, P <0.05), and the students in age group of 17 ranked the first (83.32%), those in age group of 5 ranked the last(15.52%).@*Conclusion@#From 2019 to 2021, the myopia rate of children and adolescents in the Inner Mongolia Autonomous Region increase first and then decrease, and the myopia rate in 2020 and 2021 is higher than that in 2019. The high incidence and low age of myopia are intensifying. The prevention and controlling of myopia among children and adolescents should be strengthened, so as to reduce the occurance of myopia.

17.
Journal of Geriatric Cardiology ; (12): 330-340, 2023.
Article in English | WPRIM | ID: wpr-982203

ABSTRACT

BACKGROUND@#The validation of various risk scores in elderly patients with comorbid atrial fibrillation (AF) and acute coronary syndrome (ACS) has not been reported. The present study compared the predictive performance of existing risk scores in these patients.@*METHODS@#A total of 1252 elderly patients with AF and ACS comorbidities (≥ 65 years old) were consecutively enrolled from January 2015 to December 2019. All patients were followed up for one year. The predictive performance of risk scores in predicting bleeding and thromboembolic events was calculated and compared.@*RESULTS@#During the 1-year follow-up, 183 (14.6%) patients had thromboembolic events, 198 (15.8%) patients had BARC class ≥ 2 bleeding events, and 61 (4.9%) patients had BARC class ≥ 3 bleeding events. For the BARC class ≥ 3 bleeding events, discrimination of the existing risk scores was low to moderate, PRECISE-DAPT (C-statistic: 0.638, 95% CI: 0.611-0.665), ATRIA (C-statistic: 0.615, 95% CI: 0.587-0.642), PARIS-MB (C-statistic: 0.612, 95% CI: 0.584-0.639), HAS-BLED (C-statistic: 0.597, 95% CI: 0.569-0.624) and CRUSADE (C-statistic: 0.595, 95% CI: 0.567-0.622). However, the calibration was good. PRECISE-DAPT showed a higher integrated discrimination improvement (IDI) than PARIS-MB, HAS-BLED, ATRIA, and CRUSADE (P < 0.05) and the best decision curve analysis (DCA). For thromboembolic events, the discrimination of GRACE (C-statistic: 0.636, 95% CI: 0.608-0.662) was higher than CHA2DS2-VASc (C-statistic: 0.612, 95% CI: 0.584-0.639), OPT-CAD (C-statistic: 0.602, 95% CI: 0.574-0.629) and PARIS-CTE (C-statistic: 0.595, 95% CI: 0.567-0.622). The calibration was good. Compared to OPT-CAD and PARIS-CTE, the IDI of the GRACE score slightly improved (P < 0.05). However, NRI analysis showed no significant difference. DCA showed that the clinical practicability of thromboembolic risk scores was similar.@*CONCLUSIONS@#The discrimination and calibration of existing risk scores in predicting 1-year thromboembolic and bleeding events were unsatisfactory in elderly patients with comorbid AF and ACS. PRECISE-DAPT showed higher IDI and DCA than other risk scores in predicting BARC class ≥ 3 bleeding events. The GRACE score showed a slight advantage in predicting thrombotic events.

18.
Chinese Journal of Medical Genetics ; (6): 417-420, 2022.
Article in Chinese | WPRIM | ID: wpr-928432

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with myopathy and cerebellar atrophy with ataxia.@*METHODS@#Clinical examinations and laboratory testing were carried out for the patient. The proband and the parents' genomic DNA was extracted from peripheral blood samples and subjected to trio whole-exome sequencing. Candidate variant was validated by Sanger sequencing.@*RESULTS@#The 1-year-and-8-month-old boy manifested motor developmental delay, ataxia, hypomyotonia, increased serum creatine kinase. Cranial MRI showed cerebellar atrophy with progressive aggravation. Genetic testing revealed that the patient has harbored compound heterozygous variants of the MSTO1 gene, namely c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile), which were respectively inherited from his mother and father. The former was unreported previously and was predicted to be likely pathogenic, whilst the latter has been reported previously and was predicted to be of uncertain significance.@*CONCLUSION@#The compound heterozygous c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile) variants probably underlay the disease in the proband. Above finding has enriched the spectrum of MSTO1 gene variants underlying mitochondrial myopathy and cerebellar atrophy with ataxia.


Subject(s)
Child , Humans , Infant , Male , Ataxia/genetics , Atrophy/genetics , Cell Cycle Proteins/genetics , Cytoskeletal Proteins/genetics , Mitochondrial Myopathies , Mutation , Neurodegenerative Diseases , Exome Sequencing
19.
Chinese Journal of Digestive Surgery ; (12): 675-682, 2021.
Article in Chinese | WPRIM | ID: wpr-908423

ABSTRACT

Objective:To investigate the application value of different surgical approaches in the radical resection of Siewert type Ⅱ adenocarcinoma of esophagogastric junction (AEG).Methods:The retrospective cohort study was conducted. The clinicopathological data of 84 patients with Siewert Ⅱ AEG who were admitted to the Fourth Hospital of Hebei Medical University from March 2018 to March 2019 were collected. There were 65 males and 19 females, aged from 43 to 82 years, with a median age of 66 years. Of 84 patients, 24 cases undergoing radical resection of AEG via abdominal transhiatal approach (TH) were allocated into TH group, 32 cases undergoing radical resection of AEG via left thoracic approach (Sweet) were allocated into Sweet group, 28 cases undergoing radical resection of AEG via right thoracoabdominal approach (RTA) were allocated into RTA group. Observation indicators: (1) surgical and postoperative conditions of Siewert Ⅱ AEG patients in the 3 groups; (2) postoperative complications of Siewert Ⅱ AEG patients in the 3 groups. (3) Follow-up. Follow-up using outpatient examination and telephone interview was conducted to detect postoperative life quality, tumor recurrence and survival of patients up to March 2020. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the ANOVA. Measurement data with skewed distribution were represented as M (range), comparison among multiple groups was analyzed using the Kruskal-Wallis H test, and comparison between two groups was analyzed using the Dunn Bonferroni test. Count data were described as absolute numbers, and comparison between groups was analyzed using the chi-square test. Results:(1) Surgical and postoperative conditions of Siewert Ⅱ AEG patients in the 3 groups: the operation time for Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 216 minutes (range, 190-230 minutes), 174 minutes (range, 152-185 minutes) and 295 minutes (range, 261-337 minutes), respectively, showing a significant difference among the 3 groups ( H=57.977, P<0.05). There were significant differences between the TH group and the Sweet group, between the TH group and the RTA group, respectively ( P<0.05). There was also a significant difference between the Sweet group and the RTA group ( P<0.05). The volume of intraoperative blood loss for Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 150 mL (range, 100-163 mL), 150 mL (range, 150-200 mL) and 200 mL (range, 150-263 mL), respectively, showing a significant difference among the 3 groups ( H=11.097, P<0.05). There was no significant difference between the TH group and the Sweet group ( P>0.05). There were significant differences between the TH group and the RTA group, between the Sweet group and the RTA group, respectively ( P<0.05). The number of lymph node dissected for Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 15 (range, 9-19), 17 (range, 10-21) and 30 (range, 24-40), respectively, showing a significant difference among the 3 groups ( H=29.775, P<0.05). There was no significant difference between the TH group and the Sweet group ( P>0.05). There were significant differences between the TH group and the RTA group, between the Sweet group and the RTA group, respectively ( P<0.05). The number of thoracic lymph node dissected for Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 0, 2 (range, 1-3) and 6 (range, 3-9), respec-tively, showing a significant difference among the 3 groups ( H=48.140, P<0.05). There were significant differences between the TH group and the Sweet group, between the TH group and the RTA group, respectively ( P<0.05). There was also a significant difference between the Sweet group and the RTA group ( P<0.05). The number of abdominal lymph node dissected for Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 15 (range, 9-19), 12 (range, 8-19), and 24 (range, 17-35), respectively, showing a significant difference among the 3 groups ( H=18.149, P<0.05). There was no significant difference between the TH group and the Sweet group ( P>0.05). There were significant differences between the TH group and the RTA group, between the Sweet group and the RTA group, respectively ( P<0.05). The number of positive lymph node for Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 2 (range, 0-3), 0 (range, 0-3), and 5 (range, 1-6), respectively, showing a significant difference among the 3 groups ( H=7.729, P<0.05). There was no significant difference between the TH group and the Sweet group, between the TH group and the RTA group, respectively ( P>0.05). There was a significant difference between the Sweet group and the RTA group ( P<0.05). The time to postoperative first flatus of Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 3 days (range, 3-4 days), 3 days (range, 3-4 days), and 4 days (range, 3-5 days), respectively, showing no significant difference among the 3 groups ( H=3.125, P>0.05). The duration of postoperative hospital stay for Siewert type Ⅱ AEG patients in TH group, Sweet group and RTA group were 16 days (range, 14-17 days), 14 days (range, 12-15 days), and 19 days (range, 18-21 days), respectively, showing a significant difference among the 3 groups ( H=35.244, P<0.05). There was no significant difference between the TH group and the Sweet group ( P>0.05). There were significant differences between the TH group and the RTA group, between the Sweet group and the RTA group, respectively ( P<0.05). (2) Postoperative complications of Siewert Ⅱ AEG patients in the 3 groups: there were 6, 6, 11 Siewert type Ⅱ AEG patients of the TH group, Sweet group and RTA group with cardiopulmonary complication, respectively, 1, 1, 2 patients with anastomotic leakage and 1, 0, 1 patients with AEG-related death, showing no significant difference in the above indicators among the 3 groups ( χ2=3.263, 0.754, 1.595, P>0.05). (3) Follow-up: 78 of 84 Siewert type Ⅱ AEG patients were followed up for 9.0 to 24.0 months, with a median follow-up time of 16.6 months. Cases with reduced respiratory function at postoperative 3 months for the TH group, Sweet group and RTA group were 4, 3, 5, respectively. Cases with gastroesophageal reflux at postoperative 3 months for the 3 groups were 3, 6, 7, respectively. Cases with weight loss at post-operative 3 months for the 3 groups were 3, 2, 4, respectively. There was no significant difference in the above indicators among the 3 groups ( χ2=1.009, 1.107, 1.112, P>0.05). Cases tumor recurrence and metastasis in the TH group, Sweet group and RTA group were 5, 7, 4, cases who survived at postoperative 1 year in the 3 groups were 19, 24, 25, respectively. There was no significant difference in the above indicators among the 3 groups ( χ2=0.897, 1.261, P>0.05). Conclusion:RTA appiled in Siewert type Ⅱ AEG patients has a longer postoperative operation time, increased intra-operative blood loss and longer hospital stay, while has better advantages in lymph node dissection.

20.
Chinese Journal of Emergency Medicine ; (12): 848-855, 2021.
Article in Chinese | WPRIM | ID: wpr-907731

ABSTRACT

Objective:To compare the effects of rosuvastatin and atorvastatin on coronary artery bypass grafting (CABG) on the incidence of acute kidney injury (AKI), and assess the independent risk factors of AKI.Methods:We retrospectively collected 550 patients aged 18 years or older who underwent CABG from May 2014 to May 2020. They were divided into the rosuvastatin group ( n=322), atorvastatin group ( n=125) and non statins group ( n=103) according to whether rosuvastatin or atorvastatin was routinely used before operation. Demographic data, clinical data before and after CABG and laboratory results were collected. Blood urea nitrogen (BUN), serum creatinine (Scr), creatinine clearance rate (Ccr) and incidence of postoperative AKI were compared among the three groups. Univariate analysis and binary logistic regression analysis were used to investigate the effect of statins on AKI in patients undergoing CABG. Results:Compared with preoperation, BUN showed no significant change ( P>0.05), while Scr was increased and Ccr was decreased significantly (both P<0.01); BUN in the rosuvastatin group was decreased significantly ( P<0.01), whereas Scr and Ccr had no significant change ( P>0.05); Scr in the atorvastatin group was increased significantly ( P<0.01), but there was no significant difference in BUN and Ccr ( P>0.05). BUN and Scr in the non statins group were increased significantly (both P<0.01), while Ccr was decreased significantly ( P<0.01). After operation, BUN and Scr in the rosuvastatin group and atorvastatin group were significantly lower than those in the non statins group (all P<0.01); Ccr was significantly higher than that in the non statins group ( P<0.01). BUN and Scr were not significantly different between the rosuvastatin and atorvastatin groups ( P>0.05), but Ccr was significantly higher than that in the atorvastatin group ( P< 0.05). There were significant differences in BUN, Scr and Ccr among the three groups ( χ2=48.925, 22.677 and 34.426, all P<0.01). The incidence of AKI among 550 patients was 15.1% (83/550), of which 9.6% (31/322) in the rosuvastatin group, 16.0% (20/125) in the atorvastatin group and 31.1% (32/103) in the non statins group. The incidence of AKI in the rosuvastatin and atorvastatin groups was significantly lower than that in the non statins group ( χ2=28.412, 7.282, P<0.01). Multivariate regression analysis showed that hypertension ( OR=3.555, 95% CI: 1.959-6.451, P<0.01), NHYAⅢ/Ⅳ ( OR=2.438, 95% CI: 1.187-5.008, P=0.015), and increased serum creatinine level ( OR=1.018, 95% CI: 1.003-1.032, P=0.016), and intraoperative cardiopulmonary bypass ( OR=2.936, 95% CI: 1.454-5.927, P=0.003) were independent risk factors for AKI after CABG, while preoperative conventional statin therapy ( OR=0.490, 95% CI: 0.247-0.974, P=0.042) and increased serum albumin level ( OR=0.920, 95% CI: 0.856-0.990, P=0.026) were protective factors for AKI after CABG. Conclusions:The incidence of AKI after CABG is common. Rosuvastatin or atorvastatin and increased preoperative serum albumin level can protect renal function and reduce the incidence of AKI, which are the protective factors of AKI after CABG. The hypertension, NHYAⅢ/Ⅳ, increased preoperative serum creatinine level and cardiopulmonary bypass are the independent risk factors of AKI after CABG.

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