1.The effect of Ba Duan Jin on the balance of community-dwelling older adults: a cluster randomized control trial
Leilei DUAN ; Yubin ZHAO ; Yuliang ER ; Pengpeng YE ; Wei WANG ; Xin GAO ; Xiao DENG ; Ye JIN ; Yuan WANG ; Cuirong JI ; Xinyan MA ; Cong GAO ; Yuhong ZHAO ; Suqiu ZHU ; Shuzhen SU ; Xin'e GUO ; Juanjuan PENG ; Yan YU ; Chen YANG ; Yaya SU ; Ming ZHAO ; Lihua GUO ; Yiping WU ; Yangnu LUO ; Ruilin MENG ; Haofeng XU ; Huazhang LIU ; Huihong RUAN ; Bo XIE ; Huimin ZHANG ; Yuhua LIAO ; Yan CHEN ; Linhong WANG
Chinese Journal of Epidemiology 2024;45(2):250-256
Objective:To assess the effectiveness of a 6-month Ba Duan Jin exercise program in improving the balance of community-dwelling older adults.Methods:A two arms, parallel-group, cluster randomized controlled trial was conducted in 1 028 community residents aged 60-80 years in 40 communities in 5 provinces of China. Participants in the intervention group (20 communities, 523 people) received Ba Duan Jin exercise 5 days/week, 1 hour/day for 6 months, and three times of falls prevention health education, and the control group (20 communities, 505 people) received falls prevention health education same as the intervention group. The Berg balance scale (BBS) score was the leading outcome indicator, and the secondary outcome indicators included the length of time of standing on one foot (with eyes open and closed), standing in a tandem stance (with eyes open and closed), the closed circle test, and the timed up to test.Results:A total of 1 028 participants were included in the final analysis, including 731 women (71.11%) and 297 men (28.89%), and the age was (69.87±5.67) years. After the 3-month intervention, compared with the baseline data, the BBS score of the intervention group was significantly higher than the control group by 3.05 (95% CI: 2.23-3.88) points ( P<0.001). After the 6-month intervention, compared with the baseline data, the BBS score of the intervention group was significantly higher than the control group by 4.70 (95% CI: 4.03-5.37) points ( P<0.001). Ba Duan Jin showed significant improvement ( P<0.05) in all secondary outcomes after 6 months of exercise in the intervention group compared with the control group. Conclusions:This study showed that Ba Duan Jin exercise can improve balance in community-dwelling older adults aged 60-80. The longer the exercise time, the better the improvement.
2.Advances in 16p11.2 microdeletion syndrome
International Journal of Pediatrics 2024;51(7):485-488
The 16p11.2 microdeletion syndrome is a copy number variant disease associated with multi-system abnormalities.Its clinical manifestations are complex and diverse,including neurodevelopmental disorders(intellectual development disorders,language delay,autism spectrum disorders,etc.),neurological paroxysmal disorders(epilepsy,paroxysmal kinesigenic dyskinesia,etc.),obesity,congenital malformations,etc.The prevalence is approximately 2.8 to 4.3 per 100 000 births.The pathogenesis is that there is a low copy repeat sequence on both sides of the proximal region of 16p11.2,and that the low copy repeat sequence at different positions in the germ cell during meiosis is rearranged through the non-allelic homologous recombination.At present,there is a lack of precise treatment.This article reviews the pathogenesis,classification,and clinical manifestations of 16p11.2 microdeletion syndrome,aiming to provide assistance for the mechanism research,early diagnosis,comprehensive evaluation,rehabilitation intervention,and fertility guidance of this syndrome.
3.Clinical phenotype and genetic characteristics of patients with typical 16p11.2 microdeletion syndrome
Huihong SU ; Shuizhen ZHOU ; Wenhui LI
Chinese Journal of Neurology 2023;56(9):1018-1026
Objective:To analyze the clinical phenotype, copy number variation, treatment and follow-up characteristics of children with typical 16p11.2 deletion syndrome.Methods:The clinical data of 10 children with typical 16p11.2 deletion syndrome who were treated in the Department of Neurology, Children′s Hospital of Fudan University from August 2011 to December 2021 were retrospectively collected, and their clinical phenotype, copy number variation, treatment and follow-up were summarized.Results:Among the 10 children, 4 are female and 6 are male, all with epilepsy. Nine patients had epilepsy in infancy, and the age of onset was 6.0 (4.0, 8.5) months. Four cases had focal seizures (1 with fever), 4 had generalized tonic-clonic seizures, and 2 had focal seizures with generalized tonic-clonic seizures. Eight cases had cluster seizures (more than 2 to 10 seizures within 24 hours), and 1 case had 1 status epilepticus. Nine children did not show obvious developmental delay at the onset of epilepsy, and 1 child had developmental delay at the onset of epilepsy at 14 months of age. One child had parallel toes at left foot, and 1 had macrocephaly and low limb muscle tone. Genetic testing found that 10 children carried typical 16p11.2 heterozygous deletion, the starting position of the deletion fragment was Chr16:29478119-29675016, the ending position was Chr16:30125670-30206112, and the deletion length was 525-712 kb, all of which were considered pathogenic variants. In the antiepileptic drug treatment, 4 children were treated with oxcarbazepine, 2 with sodium valproate, 2 was switched to oxcarbazepine after levetiracetam was ineffective, 1 with levetiracetam combined with sodium valproate, and 1 with levetiracetam in combination with sodium valproate and ketogenic diet, and all 10 children had no seizures. One patient developed episodic exercise-induced dyskinesia at school age, and the seizures decreased after treatment with oxcarbazepine. Follow-up of 10 children found that 9 children had different degrees of developmental delay (language was significantly affected), 3 cases were combined with autism-like manifestations, and 1 case had poor comprehension, learning difficulties, and repeated grades after entering regular primary schools.Conclusion:The typical 16p11.2 microdeletion syndrome has the deletion of gene fragments in the proximal region of 16p11.2, characterized by drug-responsive cluster seizures with onset in infancy, which may be accompanied by language delay, autism spectrum disorder and nonspecific malformations.
4. Development of the outcome evaluation index system for home care service of disabled elderly under the long-term care insurance in Guangzhou
Yixin HUANG ; Huihong CEN ; Xiaofang ZOU ; Shuxian SU ; Yan LI ; Qingyun LU
Chinese Journal of Practical Nursing 2019;35(33):2626-2633
Objective:
To develop the outcome evaluation index system for home care service of disabled elderly based on the long-term care insurance in Guangzhou.
Methods:
Delphi method was used to develop the outcome evaluation index system for home care service of disabled elderly under the long-term care insurance in Guangzhou. The Analytic Hierarchy Process was used to determine the weights of all indexes.
Results:
After two rounds of expert consultation, questionnaire response rates were 86.67%, 100%; expert authority coefficients were 0.843, 0.858; coefficients of variation ranged from 0.07 to 0.23 and 0.00 to 0.14; coordination coefficients ranged from 0.221 to 0.355 and 0.379 to 0.433 (

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