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BackgroundHome-based intervention occupies a prominent place in the treatment of autism spectrum disorder （ASD） in children， whereas previous studies on the effect of home-based early intensive behavioral intervention on verbal ability of children with ASD are somewhat inadequate. ObjectiveTo study the effects of intensive family behavioral of intervention based on Verbal Behavior Milestones Assessment and Placement Program （VB-MAPP） on the language ability of children with ASD， so as to provide references for the development of family intervention strategies for children with ASD. MethodsChildren aged 2 to 3 years old who attended the Children's Rehabilitation Department of the Second Affiliated Hospital of Shantou University Medical College from September 2020 to December 2021 and met the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） diagnostic criteria for ASD were selected as the study objects. A non-randomized concurrent control trial was conducted to compare a study group （n=24） receiving home-based early intensive behavioral intervention using VB-MAPP with a control group （n=14） receiving training from other special institutions or early childhood education institutions. The intervention lasted for 6 months in both groups. Before and after the intervention， the VB-MAPP milestone assessment was performed in the two groups， and the VB-MAPP milestone score， mand， trac and listener responds were selected as the study indicators. Then the intervention effect was compared between two groups， and the multiple linear regression was performed to screen the related influencing factors. ResultsAfter intervention， the total milestone assessment score， mand， tact and listener responds scores of study group were higher than those of control group， with statistical difference （Z=-4.339~-2.195， P<0.05 or 0.01）. Multiple linear regression analysis denoted that the average weekly hours of home-based intervention in the first three months had certain effect on listener responds （β=1.029， P<0.05）. ConclusionApplication of home-based early intensive behavior intervention using VB-MAPP may contribute to the improvement of verbal abilities such as mand， tact and listener responds in children with ASD. ［Funded by 2020 Guangdong Provincial Science and Technology Innovation Strategy Special Fund （number， 20200601）］
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Objective:To understand the predictive effect of orthostatic hypotension on frailty in nursing homes, and the effect of frailty on heart rate and blood pressure in supine positionand orthostatic position.Methods:A total of 214 elderly cases in three nursing homes (the Golden Years of Jinjialing Retirement Life Center, Hangzhou Boyang Pension Service Co., Ltd, Hangzhou Langhe International Medical Care Center) were interviewed by the general information questionnaire, the Frail Scale and Barthel Index. Systolic blood pressure, diastolic blood pressure, and heart rate were measured by electronic sphygmomanometer in supine position and orthostatic position of 1 and 3 minutes.Results:The incidence of frailty combined with orthostatic hypotension was 26.64%(57/214) in the elderly in nursing homes. The incidence of orthostatic hypotension in the robust elderly, pre-frailty and frailty gradually increased, 14.29%(5/35), 20.00%(12/60), 47.90%(57/119). The differences of heart rate and systolic blood pressure in supine position between the elderly with and without frailty were significant ( t=2.16, 3.25, P<0.05), the differences of systolic pressure difference in orthostatic position of 1 and 3 minutes between the elderly with and without frailty were significant ( H=3.16, 4.08, P<0.01). There was significant difference in systolic pressure between the prefrail elderly and the elderly without frailty in lying position ( t=2.02, P<0.05). The differences of systolic and diastolic pressure differences in orthostatic position of 3 minutes between the frail elderly and pre-frail elderly were significant ( H=3.13,2.44, P<0.05). Ordered Logistic regression analysis showed that orthostatic hypotension was a risk factor for frailty ( OR=2.425, 95% CI were 1.133-4.988, P<0.05). Conclusions:Elderly adults with orthostatic hypotension in nursing homes have a higher prevalence of frailty. Frailty also impairs blood pressure regulation during postural changes. Nurses should attach importance to the assessment, education and intervention of frailty and orthostatic hypotension.
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The mutation of lysosomal trafficking regulator (LYST) gene and the clinical data of an adult patient who showed an abnormal gait with Chediak-Higashi syndrome were analyzed retrospectively. The whole exon sequencing was applied, and Sanger sequencing was used to verify the results. All members of the family were genetically verified for the same mutation site. The sequencing revealed the presence of c.421C>T(p.Arg141 *) mutation in LYST gene in the proband, which was inherited from his parents. The mutation was found in the homozygous state for the proband, both his parents being heterozygous for the same mutation. This mutation type was not reported in the human gene mutation database. According to the American Society of Medical Genetics and Genomic Society′s guide to the interpretation of genetic variation, the mutation of c.421C>T was identified to be pathogenic.
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OBJECTIVE@#To explore the genetic basis for a patient with intellectual disability.@*METHODS@#Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family.@*RESULTS@#DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3).@*CONCLUSION@#The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
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Female , Humans , Carrier Proteins/genetics , Codon, Nonsense , Heterozygote , Intellectual Disability/genetics , Ubiquitin-Protein Ligases/genetics , Exome SequencingABSTRACT
Objective:To investigate the optic nerve subarachnoid space area (ONSSA) in patients with normal tension glaucoma (NTG) and primary open-angle glaucoma (POAG) and its correlation with related factors.Methods:Fifty-three patients with NTG (Group A) and 46 patients with POAG (Group B) were selected from January 2016 to May 2019 in Gaozhou Traditional Chinese Medicine Hospital of Guangdong Province. None of them received any treatment. Another 40 patients with health examination (Group C) were selected. Body mass index, blood pressure, 24-hour intraocular pressure, visual field damage, visual axis length and central corneal thickness were measured in each group. Two-dimensional ultrasound was performed to analyze the difference of ONSSA in the retrobulbar 3 to 7 mm range in each group, and the correlation between ONSSA and clinical related factors was analyzed.Results:The ONSSA in group A was significantly smaller than that in group B and group C: (5.07 ± 0.83) mm 2 vs. (6.19 ± 0.90) and (6.57 ± 1.43) mm 2, the differences were statistically significant ( t = 5.219 and 6.107, P < 0.05). ONSSA in group A was positively correlated with the mean intraocular pressure and maximum intraocular pressure of 24 hours ( r = 0.658 and 0.479, P < 0.05), while ONSSA in group B and C was not correlated with the mean intraocular pressure and maximum intraocular pressure of 24 hours ( P > 0.05). ONSSA was not correlated with age, body mass index, mean arterial pressure, central corneal thickness, visual field damage and visual axis length ( P > 0.05). Conclusions:ONSSA of NTG patients is lower than that of POAG patients and healthy people, and the ONSSA of NTG patients is correlated with the mean intraocular pressure and maximum intraocular of 24 hours.
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The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)-Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.
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The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)?Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.
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Objective To investigate the grading diagnostic value of magnetic resonance spectroscopy and magnetic resonance imaging and gross motor rating scale for children with cerebral palsy.Methods Forty cases of healthy children under 1.0 ～ 2.0 years old and 42 cases of cerebral palsy children under 1.1 ～ 2.0 years old were enrolled in the study,and we compared the inspection reports on MRI and MRS statistical analysis.According to the results of MRI for dividing cerebral palsy,and MRS indexing of NAA/Cr,CHO/Cr,LAC/Cr levels were compared;different types of cerebral palsy by GMFM scores were examined.Results Nuclear magnetic resonance(MRI) and MRS could effectively distinguish typical pathological changes in the brain of children with cerebral palsy,the cerebral NAA,Cr,Cho could appear significant formant when the children detected by MRS,could be quantitatively detected with MRS.The levels of NAA/Cr、CHO/Cr、LAC/Cr of different MRS and MRI degree was different,and the difference of moderate CP and severe CP was significant (P ＜ 0.05).Compared with MRS,the accordant rates of the MRI was not ideal,But gross motor rating scale score suggested that there were differences between the cerebral palsy of the MRI and MRS degree (P ＜ 0.05).Conclusion The magnetic resonance imaging and magnetic resonance spectroscopy and gross motor rating scale can effectively improve the dividing diagnosis of cerebral palsy,and this method for different types of cerebral palsy in children has some guiding value.
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Objective To evaluate the effects of combined model of contract signing,team cooperation and telehealth care on social support and quality of life for empty nest elders at home.Methods A total of 320 empty nest elders at home were randomly divided into experimental group and control group.The elders in experimental group received contract signing,team cooperation and telehealth care for 1 year; For control group,routine nursing model was implemented.The elders were examined with social support (SSRS) and quality of life (SF-36) before and after intervention.Results Mter intervention,the scores of SSRS for experiment and control groups in subjective support 21.4 ±4.2 and 18.4 ±3.7,objective support 7.0 ± 1.6 and 6.0 ± 2.3,social support availability 7.6 ± 2.2 and 6.1 ± 2.5 ; the scores of SF-36 between experiment and control groups in physical functioning 74.8 ± 14.9 and 66.3 ± 15.6,role-physical 72.3 ±15.8 and 65.9 ± 14.7,bodily pain 71.3 ± 19.8 and 62.4 ± 15.0,general health 54.2 ± 13.0 and 47.8 ±13.1,vitality 58.4 ± 17.4 and 50.2 ± 13.9,social functioning 58.0 ± 17.9 and 48.8 ± 21.3,roleemotional 74.0 ± 18.9 and 64.8 ± 18.0,mental health 59.5 ± 12.8 and 50.1 ± 11.3 ; the rate of standard management of hypertension between experiment and control groups were 97.0％ and 86.1％,the control rate of hypertension between experiment and control groups 72.3％ and 61.7％,the control rate of diabetes between experiment and control groups 85.4％ and 64.7,there were significant inter-group differences in all the above indicators (P ＜ 0.05).Conclusion The combined model of contract signing,team cooperation and telehealth care can significantly improve social support and quality of life for elders.
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OBJECTIVE:To provide reference for strengthening the safety of the combination use of CYP3A4 inhibitors with statins in clinical treatment. METHODS:30 cases per month(totally 300 cases)(the hospitalization time was more than 10 days) discharged from the cardiology department of a third-level class A hospital during Jan. to Oct. 2013 were selected randomly,and statistical analysis was made into general information of patients,whether to use statins and CYP3A4 inhibitor,and whether to monitor safety indicators of liver and kidney function and creatine kinase. RESULTS:Totally 291 patients were treated with statins with a total use rate of 97%,including 265 cases of atorvastatin and 11 cases of simvastatin. The CYP3A4 inhibitors were com-bined with amlodipine,diltiazem,verapammy,amiodarone,Ginkgo biloba leaf,fenofibrate and clarithromycin,etc.,and 162 (59%) patients were given the combination use of simvastatin or atorvastatin with CYP3A4 inhibitors. But the liver and kidney function,creatine kinase and other safety indicators were not monitored by laboratory examination during medication. CONCLU-SIONS:Atorvastatin and simvastatin are used commonly in patients with cardiovascular disease,and the combination use rate with CYP3A4 inhibitor is relatively higher and needs long-term medication,drug dosage should be limited according to the direction of instructions and the adverse reactions induced by drug interactions should be noticed to strengthen medication monitor and education for patients.
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Objective To find out the living condition of the elderly adults and their needs for community bealthcare services so as to provide evidence-based guidance for our govemment. Methods A total of 925 participants aged ＞ 60 years were personally interviewed for questionnaire and ADL scale evaluation. Chi-square test and Kmskal-Wallis H test were used for data analysis. Results The subjects showed relatively lower education level and the illiteracy rate was high. Their marriage was stable and a decreased divorce rate was found. The economic situation was satisfactory. Their life satisfaction was farbeyond the health satisfaction. Most of the elderly did not live with their offspring,although 21.8% could not take care of themselves. The prevalence rate of chronic diseases was 81.5% ,which resulted in more demands for social activities, health consultation, rehabilitation nursing, and home healtheare services in the community. Conclusion They need to pay more attention to physical and mental health of the elderly. A community healthcare system that could provide services in an-all-round way,including medical care, should be established and improved.
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Objective To understand the prevalence rate of mild cognitive impairment (MCI) and its related factors in community elderly so as to provide evidence for the community intervention. Methods A cross-sectional study was performed in a random sampling of 925 elderly people. Mini-mental state examination (MMSE), activities of daily living (ADL) scale and questionnaire were used for face-to-face interview. Chi-square test and logistic regression analysis were applied in this study. Results The prevalence rate of MCI was 21.1% in elderly people. Female, high age, illiteracy, loss of spouse, lack of exercise, no professional activitives and not doing some work for the descendants were the risk factors for MCI. Conclusions The aging and the low educational level are the risk factors for MCI in the elderly. High self-care ability scores are the protective factors for MCI.