1.Effect of Xingding injection on blood LN and blood C-Ⅳ in chronic renal failure.
Jingsong JIN ; Xiaoqin WANG ; Min WU ;
Chinese Journal of Practical Internal Medicine 2006;0(S1):-
Objective To observe the effect of Xingding injection on renal fuction,blood Laminin(LN)and Collegen Ⅳ(C-Ⅳ)in chronic renal failure(CRF).Methods Effect of SerumCreatinine(SCR),BloodUreaNitrogen (BUN)、Hemoglobin(Hb)、ALT、24 hupq、Laminin(LN)、Collegen Ⅳ(C-Ⅳ)was observed in CRF pa- tients.Results Compared with the controlvalues,significantly decreased the level of Scr,BUN,LN,C-Ⅳ and 24 hupq(P
2.Interactions among Foot Placement, Trunk Control and Weight-bearing during Sit-to-stand Movement in Hemiplegic Stroke Patients
Meng LIU ; Chaomin NI ; Jin CHEN ; Wenxiang FAN ; Jingsong MU ; Li WANG ; Jianhai ZHUANG
Chinese Journal of Rehabilitation Theory and Practice 2015;21(9):1082-1086
Objective To explore the interaction of foot placement, trunk control and weight-bearing (WB) during sit-to-stand (STS) movement. Methods 32 hemiplegic stroke patients (experimental group) and 32 healthy people (control group) were recruited and completed STS movement with 3 different foot positions: ankle dorsiflexed 10° of both feet (BF), with the paretic foot posterior (PFP) or the undominant foot posterior (UDFP), with the non-paretic foot posterior (NPFP) or the dominant foot posterior (DFP). Balance function assessment system (model AL-080) was used for collecting the WB, WB asymmetry (WBasym), and the center of pressure of the buttocks in medial-lateral (CoPx) and anterior-posterior (CoPy) sway during STS movement. Results The control group had the mostly WB symmetry, and little trunk side movement in BF, and there was significant difference in all indicators compared with in DFP or UDFP. For the experiment group, the WB, WBasym and CoPx were different as BF from as NPFP (P<0.05); while all the indicators except CoPx were different from PFP. When PFP, the trunk moved to the non-paretic side, and then to paretic side, all the indicators were different from NPFP. When BF and NPFP of the experiment group compared with BF and DFP of the control group, all the indicators were different (P<0.05). CoPx and CoPy increased in the experiment group compared with the control group. CoPx negatively correlate with WBasym in the experiment group (r=-0.626, P<0.001) and in the control group (r=-0.776, P<0.001). Conclusion The trunk side movement affects weight-bearing symmetry, and foot placement can modify weight-bearing distribution during the STS movement in hemiplegic stroke patients.
3.Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy.
Wei WANG ; Yali QIN ; Renbin WANG ; Weihe ZHANG ; Linwei ZHANG ; Lei CUI ; Ming JIN ; Yujuan JIAO ; Jingsong JIAO
Chinese Journal of Medical Genetics 2019;36(8):821-825
OBJECTIVE:
To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.
METHODS:
A comprehensive analysis including clinical investigation and genetic testing was carried out.
RESULTS:
The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.
CONCLUSION
Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
DNA Mutational Analysis
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Galactosylceramidase
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genetics
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Genetic Testing
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Humans
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Leukodystrophy, Globoid Cell
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complications
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genetics
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Mutation
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Peripheral Nervous System Diseases
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etiology