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OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a patient with mental retardation and ejaculatory dysfunction.@*METHODS@#A patient with mental retardation and ejaculatory dysfunction who was admitted to the First Affiliated Hospital of Air Force Military Medical University on November 18, 2021 was selected as the study subject. Clinical data of the patient were collected. Peripheral venous blood samples were collected from the patient and his parents. Whole exome sequencing (WES) was carried out for the patient, and the candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The patient, a 26-year-old male, had manifested atypical mental retardation and ejaculatory dysfunction. WES revealed that he has harbored a heterozygous variant of the ARID1B gene, namely c.5776C>T (p.Arg1926X). Sanger sequencing verified that neither of his parents has carried the same variant. The variant has been recorded in the 1000 Genomes, ExAC, gnomAD and ClinVar databases. A search of the dbSNP database suggested that the variant has a population frequency of 0.000 4%. The variant was predicted as deleterious by online software including Mutation Taster, CADD, and MutPred. Analysis with Cluster Omega online software suggested that the amino acid encoded by the variant site was highly conserved among various species. Analysis with PyMOL software suggested that the variant may affect the function of the encoded protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was predicted to be pathogenic.@*CONCLUSION@#The c.5776C>T (p.Arg1926X) variant of the ARID1B gene probably underlay the mental retardation and ejaculatory dysfunction in this patient. Above finding has broadened the spectrum of the ARID1B gene variants and provided reference for the diagnosis and treatment of the patient.
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Male , Humans , Adult , Intellectual Disability/genetics , Transcription Factors/genetics , Computational Biology , Gene Frequency , Genomics , DNA-Binding Proteins/geneticsABSTRACT
Objective:To evaluate EEG biofeedback therapy on clinical efficacy of children with different subtypes of attention deficit hyperactivity disorder (ADHD) using the integrated visual and auditory integration continuous performance test (IVA-CPT).Methods:Children with ADHD who completed more than 60 times of EEG biofeedback training in Hangzhou Seventh People's Hospital from July 2018 to September 2020 were selected as the research subjects. According to the results of IAV-CPT before treatment, all the children were divided into three subtypes: attention deficit type ( n=21), impulse hyperactivity type ( n=11), and mixed type ( n=30). The differences of symptom improvement between the three subtypes before and after training were compared by SPSS 23.0 software. Results:(1) In terms of response control (a total of 9 items), there was no statistical significance in the attention deficit group before and after treatment (all P>0.05). In the hyperactivity group, the scores of visual and auditory response control, full scale response control, auditory prudence and auditory consistency, visual focus quotient and visual consistency before treatment were significantly lower than those after treatment(all P<0.05). In the mixed group, the scores of visual and auditory response control, full scale response control, auditory prudence, visual consistency, and visual prudence before treatment were significantly lower than those after treatment(all P<0.05). In terms of attention (a total of 9 items), the scores of auditory vigilance, auditory attention, visual attention, full scale attention, visual vigilance and visual speed in the attention deficit group before treatment were significantly lower than those after treatment(all P<0.05). The scores of visual attention, full scale attention, visual focus quotient (all P<0.01), auditory attention and visual speed (all P<0.05) in hyperactivity group before treatment were significantly lower than those after treatment. In the mixed group, the scores of the other 8 items before treatment were significantly lower than those after treatment (all P<0.01, auditory focus quotient were P<0.05), except that the auditory speed had no statistical significance before and after treatment.(2)After EEG biofeedback training, the changes of IVA-CPT scores of the three groups before and after treatment(visual response control (-2.76±24.39), (19.55±19.94), (12.93±25.30), F=3.932, P=0.025), (full scale response control (2.38±20.77), (21.27±15.86), (15.43±25.69), F=3.158, P=0.050), (full scale attention (18.43±27.44), (11.36±11.40), (26.23±18.41), F=4.692, P=0.016), (auditory vigilance (20.23±42.65), (6.55±10.20), (33.63±36.30), F=7.160, P=0.002), (visual vigilance (19.48±28.55), (5.27±10.62), (33.27±28.26), F=10.876, P<0.001), (visual focus quotient (-2.24±23.67), (14.45±13.79), (12.83±21.91), F=3.669, P=0.031) were statistically significant. After LSD comparison, the changes of visual control and total control scores in the attention deficit group before and after treatment were significantly lower than those in the impulse hyperactivity group (all P<0.05) and the mixed group (all P<0.05). In the three items of total attention score, auditory vigilance and visual vigilance, the changes of impulsivity hyperactivity group before and after treatment were significantly lower than those of mixed group ( P=0.050, P<0.05, P<0.01, respectively). The changes of visual attention quotient in the attention deficit group before and after treatment were significantly lower than those in the impulse hyperactivity group and the mixed group (all P<0.05). Conclusion:EEG biofeedback has clinical efficacy in the three groups of subtypes of ADHD, but the efficacy is different, and individualized EEG training programs should be developed for different subtypes of children on the basis of standard TBR therapy protocol.
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Objective To evaluate the evidence and recommendations of the relevant clinical practice guidelines for the prevention and treatment of stroke published in the last five years. Methods The stroke and guideline-related key words and free words domestic computer retrieval platforms(China biomedical literature database,CNKI,and Yimaitong etc.),as well as foreign platforms(PubMed,NGC,GIN,etc.) were retrieved.The retrieval time limit ranged from January 2012 to May 2017.Appraisal of Guidelines for Research and Evaluation Ⅱ(AGREE Ⅱ)was used to assess the quality of the guidelines. Results A total of 9 490 documents were retrieved preliminarily and finally 16 articles were included. The average scoring rates of the 16 guidelines in the 6 fields of AGREE Ⅱ,including the scope and purpose,participants,rigor of the formulation,clarity of expression,applicability,and independence of the editors were 66.3%, 27.4%,23.0%,53.9%,18.8%,and 0%,respectively.The different guidelines all recommend that internal endarterectomy or carotid balloon dilatation and carotid artery stenting are used to extracranial carotid stenosis,while the treatment of vertebral artery stenting is recommended for extracranial vertebral artery stenosis.However,the intravascular interventional therapy is not recommended for intracranial arterial stenosis.The perioperative period of ischemic stroke intravascular intervention need to pay attention to the application of anti-platelet aggregation,anticoagulation,blood pressure,blood glucose,blood lipid management,and postoperative monitoring. For postoperative stent restenosis,especially after vertebral artery stenting,the guidelines recommend using drug-eluting stents,however,the dosage of heparin in intraoperative anticoagulation is still controversial.The intracranial aneurysm guidelines are more recommended for interventional therapy.The cerebral hemorrhage in different regions is recommended for different surgical procedures. Conclusions The guidelines in this field can reflect the key problems in clinical practice and keep up with the international concept.However,the quality of the methodology of the guidelines development needs to be improved. Some of them need to be updated and the recommendations should refer more evidence of the Chinese population.
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Objective To explore Chongqing migrant workers Suiqian children′s mental health status and related factors .Meth-ods In this study 740 children from grade 7 to grade 9 in 3 schools which specify recruit migrant workers′children ,including the 399 migration children of migrant workers and 341 urban household registration students were involved .They were investigated with symptom rating scale(SCL-90) and self-made general questionnaire .Results There were no significant differences in SCL-90 scores between the migrant workers migration children group and urban household registration students group (P>0 .05) .Conclu-sion Generally speaking ,Chongqing migrant workers Suiqian children′s mental health status is good ,but there are still some prob-lems .We need do some further study on the mode of psychological intervention to maintain their physical and mental health .