1.Advance of Motor Imagery for Upper Limbs Rehabilitation in Patients after Stroke (review)
Chinese Journal of Rehabilitation Theory and Practice 2017;23(9):1060-1063
Motor imagery can be classified in several ways, and assessed with various measures. There is a set of program to perform the motor imagery therapy. There are many reasearches about the effects of motor imagery for upper limbs rehabilitation in patients after stroke. Task-based and resting-state functional MRI explore the activation of various areas and functional linkages in cerebral network.
2.Kinesthetic and visual imagery training are equally effective in upper extremity rehabilitation and improving ability in the activities of daily living after a stroke
Jiahuan GAO ; Xiquan HU ; Mingyu YIN ; Qinglin XIAN ; Shuxian ZHANG ; Li HUANG
Chinese Journal of Physical Medicine and Rehabilitation 2017;39(11):815-818
Objective To observe the effect of kinesthetic imagery and visual imagery on upper limb rehabilitation among stroke survivors.Methods Forty-five hemiplegic stroke survivors were randomly assigned into a kinesthetic imagery training group (n=14),a visual imagery training group (n=15) or a control group (n=16).In addition to conventional rehabilitation,patients in the kinesthetic and visual imagery training groups were given 30 minutes of the appropriate imagery training once a day,five days per week for four weeks,while the control group relaxed or received health education for the same time.Before and after the 4-week intervention,the upper limb section of the Fugl-Meyer assessment (FMA-UE) and the modified Barthel index (MBI) were used to evaluate the motor function of the subjects' upper limb and their ability in the activities of daily living respectively.Results Before the intervention,there were no significant differences in the average FMA-UE and MBI scores among the 3 groups.After the intervention there was no significant difference between the average FMA-UE and MBI scores of the two training groups,but both were significantly better than the control group's averages.Conclusion Either kinesthetic or visual imagery training can improve the upper limb function of stroke survivors and their abihty in the activities of daily living.Their effectiveness is not significantly different.
3.Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy.
Jia HUANG ; Dong WU ; Yue GAO ; Qiancheng LI ; Chaoyang ZHANG ; Jiahuan HE ; Xi LI ; Hongdan WANG ; Qiannan GUO ; Guiyu LOU ; Yue WANG ; Hongyan LIU
Chinese Journal of Medical Genetics 2022;39(5):468-473
OBJECTIVE:
To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.
METHODS:
7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.
RESULTS:
Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.
CONCLUSION
Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.
Amniotic Fluid
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Aneuploidy
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Chromosome Aberrations
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DNA Copy Number Variations
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Female
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Genomics
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Humans
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Pregnancy
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Pregnancy Trimester, Second
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Pregnant Women
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Prenatal Diagnosis/methods*
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Technology
4.Copy number variation analysis and outcomes of 1 658 fetuses with increased nuchal translucency
Jia HUANG ; Dong WU ; Jiahuan HE ; Yue GAO ; Xi LI ; Hongdan WANG ; Guiyu LOU ; Qiannan GUO ; Yue WANG ; Ruili WANG ; Hongyan LIU
Chinese Journal of Perinatal Medicine 2023;26(1):26-32
Objective:To analyze the genetic etiology and prognosis in fetuses with increased nuchal translucency (NT) in order to assist in the clinical prenatal genetic counseling and diagnosis.Methods:This study retrospectively enrolled 1 658 cases of singleton pregnancy (<35 years old) receiving invasive prenatal diagnosis, including karyotype analysis and/or chromosome microarray analysis or copy number variation (CNV) sequencing, due to NT value ≥2.5 mm in the first trimester in Henan Provincial People's Hospital from August 2014 to December 2021. They were divided into different groups according to the thickness of NT (≥2.5-<3.0, ≥3.0-<3.5, ≥3.5-<4.5, ≥4.5-<5.5, ≥5.5-<6.5 and ≥6.5 mm groups) and abnormal ultrasound findings (isolated increased NT group, increased NT complicated by soft markers/non-severe structural abnormality group and increased NT complicated by severe structural abnormality group). The results of invasive prenatal diagnosis and pregnancy outcomes were compared between different groups using Chi-square test and trend Chi-square test. Results:The detection rates of numerical abnormalities of chromosomes were 15.8% (262/1 658) and 17.6% (252/1 431) when the NT thickness cut-off value were 2.5 mm or 3.0 mm, respectively. Overall, the detection rate of numerical abnormalities of chromosomes increased with thickness of NT ( χ2trend=180.75, P<0.001), ranging from 6.6% (44/671) in the NT≥2.5-<3.5 mm group to 45.6% (113/248) in the NT≥5.5 mm group. The incidence of pathogenic/likely pathogenic CNV(P/LP CNV) did not increased with NT thickness ( χ2trend=3.26, P=0.071), and the highest detection rate was observed in the NT≥4.5-<5.5 mm group (9.0%, 19/211). The detection rate of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥2.5-<3.0 mm group and NT≥3.0-<3.5 mm group were 5.3% (10/188) and 9.6% (36/375), respectively, however, the difference was not statistically significant ( χ2=3.06, P=0.080). The detection rates of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥3.5-<4.5 mm group and NT≥2.5-<3.0 mm complicated by soft markers/ non-severe structural abnormality group were 12.7% (52/410) and 24.1% (7/29), respectively, and the risk were 2.6 times (95% CI: 1.3-5.2) and 5.7 times (95% CI: 2.0-16.4) of the isolated NT≥2.5-<3.0 mm group, respectively. The pregnancy termination rate increased with the NT thickness ( χ2trend=304.42, P<0.001), ranging from 10.8% (23/212) in the NT≥2.5-<3.0 mm group to 90.7% (117/129) in the NT≥6.5 mm group. After exclusion of the pregnancies terminated due to numerical abnormalities of chromosomes and P/LP CNV, 87.6% (862/984) of the fetus with increased NT were born alive. Conclusions:The detection rate of numerical abnormalities of chromosomes increases with the thickness of NT. Invasive prenatal diagnosis is required for non-advance aged singleton pregnant women when fetuses present with isolated NT≥2.5 mm with or without soft markers/structural abnormalities.