Objective:To investigate the correlation between thyroid function and the total cerebral small vessel disease score in the elderly.Methods:This cross-sectional study included elderly people who underwent physical examinations at the Geriatrics Department of Beijing Hospital from April 2019 to December 2020. Participants were devided into 5 groups based on the total score of cerebral small vessel disease: 0, 1, 2, 3, and 4. General clinical data were collected through physical examination reports and outpatient medical records. All participants underwent a 3T brain magnetic resonance imaging (MRI), scan and data were collected to calculate the total cerebral small vessel disease score. Fasting venous blood samples were taken in the morning to measure thyroid hormone levels. Relationships between thyroid hormone levels and lacunar infarcts, microbleeds, white matter hyperintensities (WMH), enlarged perivascular spaces, and total cerebral small vessel disease score were analyzed using Spearman correlation. Multivariate ordinal logistic regression was also used to analyze factors associated with total cerebral small vessel disease score.Results:A total of 545 elderly individuals were included, with a mean age of (75.16±9.18) years, and 505 (92.7%) were male. The number of subjects with a total cerebral small vessel disease score of 0 were 207 (38.0%), 1 were 182 (33.4%), 2 were 99 (18.2%), 3 were 41 (7.5%), and 4 were 16 (2.9%). Statistical significant differences were found in age, fasting blood glucose, systolic blood pressure, triiodothyronine (TT3), free triiodothyronine (FT3), and the proportion of hypertensive patients among the groups (all P<0.05). Spearman correlation analysis showed that TT3 ( r=-0.138, P=0.001) and FT3 ( r=-0.213, P<0.001) were negatively correlated with total cerebral small vessel disease score. Multivariate ordinal logistic regression analysis revealed that age was independently and positively associated with total cerebral small vessel disease score ( OR=1.139, 95% CI: 1.087-1.193, P<0.001), while FT3 was independently and negatively associated with total cerebral small vessel disease score ( OR=0.331, 95% CI: 0.118-0.929, P=0.009). Conclusion:In the elderly population, FT3 levels are independently and negatively associated with total cerebral small vessel disease score.

Objective To examine the effect and electrophysiological mechanism of repetitive transcranial magnetic stimulation(rT-MS)augmentated to group cognitive training(GCT)on children with high-functioning autism spectrum disorder(ASD)comorbided with attention-deficit/hyperactivity disorder(ADHD).Methods From March to December,2023,70 children diagnosed with ASD+ADHD were recruited from the Affiliated Xuzhou Children's Hospital of Xuzhou Medical University and partnering special education centers.They were randomly divided into control group(n=35)and experimental group(n=35).Both groups received standard-ized GCT,twice a week,for ten weeks.During the same period,the control group received sham stimulation,while the experimental group additionally received 1 Hz rTMS over the right temporoparietal junction at 80%of resting motor threshold,five times a week,for ten weeks.Core symptoms were assessed before and after treat-ment with the Social Responsiveness Scale-2(SRS-2),Repetitive Behavior Scale-Revised(RBS-R)and Conners Parent Rating Scale-3(CPRS-3)attention-deficit and hyperactivity/impulsivity subscales.Resting-state EEG was simultaneously recorded to obtain θ and β power spectral density(PSD)and the θ/β ratio at Fz,Cz and Pz.Results Two cases in the control group and one in the experimental group dropped down.After treatment,SRS-2 scores(|Z|>4.876,P<0.001)and RBS-R scores(|Z|>4.329,P<0.001)decreased in both groups.CPRS-3 attention-deficit scores(|Z|>4.940,P<0.001)and hyperactivity/impulsivity scores(|t|>16.273,P<0.001)decreased in both groups,and they were lower in the experimental group(Z=4.732,P<0.001;t=-3.169,P<0.01).In the experimental group,Fz θ-PSD decreased significantly(Z=-4.830,P<0.001),and it was lower than that in the control group(Z=-2.609,P=0.009);and the θ/β ratio likewise fell(t=4.754,P<0.001),and it was lower than that in the control group(t=-2.256,P=0.027).Conclusion Adding rTMS to GCT can further alleviate attention deficits and hyperactive-impulsive symptoms in chil-dren with ASD comorbided with ADHD,which may associate with the inhibit of power of θ wave in profrontal contex.

Objective To examine the effect and electrophysiological mechanism of repetitive transcranial magnetic stimulation(rT-MS)augmentated to group cognitive training(GCT)on children with high-functioning autism spectrum disorder(ASD)comorbided with attention-deficit/hyperactivity disorder(ADHD).Methods From March to December,2023,70 children diagnosed with ASD+ADHD were recruited from the Affiliated Xuzhou Children's Hospital of Xuzhou Medical University and partnering special education centers.They were randomly divided into control group(n=35)and experimental group(n=35).Both groups received standard-ized GCT,twice a week,for ten weeks.During the same period,the control group received sham stimulation,while the experimental group additionally received 1 Hz rTMS over the right temporoparietal junction at 80%of resting motor threshold,five times a week,for ten weeks.Core symptoms were assessed before and after treat-ment with the Social Responsiveness Scale-2(SRS-2),Repetitive Behavior Scale-Revised(RBS-R)and Conners Parent Rating Scale-3(CPRS-3)attention-deficit and hyperactivity/impulsivity subscales.Resting-state EEG was simultaneously recorded to obtain θ and β power spectral density(PSD)and the θ/β ratio at Fz,Cz and Pz.Results Two cases in the control group and one in the experimental group dropped down.After treatment,SRS-2 scores(|Z|>4.876,P<0.001)and RBS-R scores(|Z|>4.329,P<0.001)decreased in both groups.CPRS-3 attention-deficit scores(|Z|>4.940,P<0.001)and hyperactivity/impulsivity scores(|t|>16.273,P<0.001)decreased in both groups,and they were lower in the experimental group(Z=4.732,P<0.001;t=-3.169,P<0.01).In the experimental group,Fz θ-PSD decreased significantly(Z=-4.830,P<0.001),and it was lower than that in the control group(Z=-2.609,P=0.009);and the θ/β ratio likewise fell(t=4.754,P<0.001),and it was lower than that in the control group(t=-2.256,P=0.027).Conclusion Adding rTMS to GCT can further alleviate attention deficits and hyperactive-impulsive symptoms in chil-dren with ASD comorbided with ADHD,which may associate with the inhibit of power of θ wave in profrontal contex.

Objective:To investigate the correlation between thyroid function and the total cerebral small vessel disease score in the elderly.Methods:This cross-sectional study included elderly people who underwent physical examinations at the Geriatrics Department of Beijing Hospital from April 2019 to December 2020. Participants were devided into 5 groups based on the total score of cerebral small vessel disease: 0, 1, 2, 3, and 4. General clinical data were collected through physical examination reports and outpatient medical records. All participants underwent a 3T brain magnetic resonance imaging (MRI), scan and data were collected to calculate the total cerebral small vessel disease score. Fasting venous blood samples were taken in the morning to measure thyroid hormone levels. Relationships between thyroid hormone levels and lacunar infarcts, microbleeds, white matter hyperintensities (WMH), enlarged perivascular spaces, and total cerebral small vessel disease score were analyzed using Spearman correlation. Multivariate ordinal logistic regression was also used to analyze factors associated with total cerebral small vessel disease score.Results:A total of 545 elderly individuals were included, with a mean age of (75.16±9.18) years, and 505 (92.7%) were male. The number of subjects with a total cerebral small vessel disease score of 0 were 207 (38.0%), 1 were 182 (33.4%), 2 were 99 (18.2%), 3 were 41 (7.5%), and 4 were 16 (2.9%). Statistical significant differences were found in age, fasting blood glucose, systolic blood pressure, triiodothyronine (TT3), free triiodothyronine (FT3), and the proportion of hypertensive patients among the groups (all P<0.05). Spearman correlation analysis showed that TT3 ( r=-0.138, P=0.001) and FT3 ( r=-0.213, P<0.001) were negatively correlated with total cerebral small vessel disease score. Multivariate ordinal logistic regression analysis revealed that age was independently and positively associated with total cerebral small vessel disease score ( OR=1.139, 95% CI: 1.087-1.193, P<0.001), while FT3 was independently and negatively associated with total cerebral small vessel disease score ( OR=0.331, 95% CI: 0.118-0.929, P=0.009). Conclusion:In the elderly population, FT3 levels are independently and negatively associated with total cerebral small vessel disease score.

Objective:To observe the impact of a home-based intervention based on video feedback on the social, cognitive and fine motor skills of children with autism spectrum disorder (ASD).Methods:Fifty children with ASD were randomly divided into a control group and an observation group, each of 25. In addition to conventional rehabilitation training, the control group received routine comprehensive family intervention, while the observation group′s family intervention used video feedback. Before and after 6 months, all of the children′s social, cognitive and fine motor skills were assessed using the Psychoeducational Profile instrument (PEP-3), an aberrant behavior checklist (ABC), the Childhood Autism Rating Scale (CARS), an autism treatment evaluation checklist (ATEC) and a neuropsychological development scale (CNDS) for children up to 6 years old.Results:Before the treatment there was no significant difference between the 2 groups in any of the measurements. Afterward, significant improvement was observed in all of the measurements in both groups. After the treatment, however, the experimental group′s average social interaction, cognition and personal self-care scores on the PEP-3 scale, as well as their average fine motor skill, adaptive capacity, language use and personal social ability were all significantly better than the control group′s averages. At the same time, the experimental group′s average ABC, CARS, communication, sensation, social ability and behavior results were significantly better.Conclusions:Video feedback can effectively improve family interventions stimulating the social and cognitive abilities of children with ASD, as well as their fine motor skills.

Objective:To observe the impact of a home-based intervention based on video feedback on the social, cognitive and fine motor skills of children with autism spectrum disorder (ASD).Methods:Fifty children with ASD were randomly divided into a control group and an observation group, each of 25. In addition to conventional rehabilitation training, the control group received routine comprehensive family intervention, while the observation group′s family intervention used video feedback. Before and after 6 months, all of the children′s social, cognitive and fine motor skills were assessed using the Psychoeducational Profile instrument (PEP-3), an aberrant behavior checklist (ABC), the Childhood Autism Rating Scale (CARS), an autism treatment evaluation checklist (ATEC) and a neuropsychological development scale (CNDS) for children up to 6 years old.Results:Before the treatment there was no significant difference between the 2 groups in any of the measurements. Afterward, significant improvement was observed in all of the measurements in both groups. After the treatment, however, the experimental group′s average social interaction, cognition and personal self-care scores on the PEP-3 scale, as well as their average fine motor skill, adaptive capacity, language use and personal social ability were all significantly better than the control group′s averages. At the same time, the experimental group′s average ABC, CARS, communication, sensation, social ability and behavior results were significantly better.Conclusions:Video feedback can effectively improve family interventions stimulating the social and cognitive abilities of children with ASD, as well as their fine motor skills.

Objective: To investigate the effects of miRNA on the expression of paraoxonase 1 (PON1) and its clinical application in the patients with nonalcoholic steatohepatitis (NASH). Methods: Bioinformatics methods were used to analyze and predict PON1 related regulation on miRNA. PON1 luciferase reporter gene vectors were constructed and the activity of dual luciferase was analyzed. The up/down-regulated levels of miRNA in HepG2 cells of different groups were detected by real-time fluorescence quantitative PCR (qRT-PCR), and the levels of PON1 protein in HepG2 cells were detected by western blot. The levels of miR140-5p in the serum of healthy people and NASH patients were also analyzed by qRT-PCR. Results: According to the prediction of TargetScan database, miR140-5p may bind complementarily to the end of PON13′-UTR. The analysis for the activity of dual luciferase reporter gene showed that miR-140-5p mimic significantly downregulated the fluorescence of wild type PON1 vector (P＜0.01). The results of qRT-PCR demonstrated that miR-140-5p mimic group showed high overexpression (P＜0.01) compared with the normal cell control group and the negative mimic control group, while miR-140-5p inhibitor group appeared corresponding low expression (P＜0.05). western blot results suggested that the transfection of miR140-5p mimic significantly down-regulated the expression of PON1 (P＜0.01) while miR140-5p inhibitor up-regulated this expression (P＜0.01). Compared with the healthy control group, the level of miR140-5p was decreased in the serum of NASH patients, and the difference was statistically significant (P＜0.01). Conclusion miR140-5p may be involved in the progression of nonalcoholic steatohepatitis through regulation for the posttranscriptional gene expression of PON1.

Objective:To explore the application value of transcranial magnetic stimulation combined with language training for children with language retardation.Methods:100 children with language retardation who were treated in our hospital from March 2015 to March 2016 were selected as the research object.They were divided into control group and observation group according to the random number table method,50 cases in each group.The control group was treated with routine language training,while the observation group was treated with transcranial magnetic stimulation combined with language training.The treatment of the two groups were 3 months.The therapeutic effects were evaluated by the language development in Chinese children assessment method and the changes of developmental quotient before and after treatment were evaluated by the neuropsychological development test for children.Results:The effective rate of the observation group was 98.0％,which was significantly higher than 87.0％ of the control group (P＜0.05).Compared with before treatment,the language development quotient and development quotient of the two groups after treatment for 1,2 and 3 months were significantly improved,and the observation group was significantly better than the control group (P＜0.05).The normal rate of the observation group was 80.0％,which was significantly higher than 66.0％ of the control group (P＜0.05).Conclusion:The effect oftranscranial magnetic stimulation combined with language training is ideal,which can effectively improve the developmental quotient of children with language retardation,and it is worth promoting in clinical practice.

OBJECTIVETo analyze chromosome aberration in a child with mental retardation and abnormalities and its parents.

METHODSChromosome G banding, multiplex ligation-dependent probe amplification, fluorescence in situ hybridization and single nucleotide polymorphisms array were employed for analysis.

RESULTSKaryotype analysis revealed that the child was 46,XX and the father was 46,XY, while the mother was 46,XX, add (12)(p13). Subtelomeric region analysis with MLPA displayed that the child has reduced ACP1 gene copy number in 2p25 region and increased SLC6A12,KDM5A gene copy numbers in 12p11 region. SNP-array has fine mapped the duplication to 12p13.33-p12.3, a 15.142 Mb region, and a deletion to 2p25.3 for 3.194 Mb, which resulted in duplication of 9 genes including SLC6A12 as well as deletion of 11 genes including SNTG2, respectively. FISH analysis revealed that the child was 46,XX,ish,der(2),t(2;12)(p25;p13)mat, or partial monosomy 2p25 and partial trisomy 12p13. In addition,the mother was a carrier with cryptic balanced translocation chromosome, 46,XX,isht(2;12) (p25;p13). Mental abnormalities and retardation of the child may be attributed to heterozygous deletion of SNTG2, MYT1L genes and duplication of SLC6A12 gene.

CONCLUSIONCombined use of MLPA, FISH and SNP-array can facilitate accurate diagnosis of cryptic rearrangement at genomic level.

Adolescent ; Adult ; Carrier Proteins ; genetics ; Child ; Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 12 ; genetics ; Chromosomes, Human, Pair 2 ; genetics ; Female ; Gene Rearrangement ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Male ; Pedigree ; Protein Tyrosine Phosphatases ; genetics ; Proto-Oncogene Proteins ; genetics ; Translocation, Genetic ; Trisomy ; Young Adult