Clinical, myopathological and genetic research of a patient with distal myopathy caused by caveolin-3 deficiency / 中华神经科杂志

Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G ＞ A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G ＞ A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.

Analysis of the electromyographieal character of Parkinson's tremor / 中华神经科杂志

Objective To investigate the electromyngraphy eharacteristies of Parkinsen's disease (PD) by studying tremor frequency, intensity and drug response. Methods Sixty-six patients with PD hospitalized during March 2005 to May 2006 were re-evaluated and recruited into the study. A ten-channel electromyography recorded the frequency and intensity of the rest tremor and postural tremor. Tremor analysis soft was used to statistically analyze differences between the two types of tremor, correlation between the frequency and intensity, and changes after regular administration of dopaminergic medication. Results The frequencies of rest tremor ((4. 79±0.69 ) Hz) and postural tremor ( (5.54±1.18) Hz ) showed statistical differences (F = 33.5, P<0. 01), but the intensity of rest tremor (0.016-421.700 (rag)2) and postural tremor (0.062-217.900 (mg)2) didn't show statistical differences (F=1.917, P>0.05 ). No regression relation was revealed between the frequency and intensity of tremor (r=0.09, P>0.05). After dopaminergic medication treatment, the intensity declined significantly from 0.016-421.700 (mg)2 to 0.027-82.200 (mg)2(F=5.179,P <0.05), but the difference of frequencies of tremor between before ( (5.09±0.85) Hz) and after treatment ( (5.20 ± 1.08 )Hz) was not significant (F = 0.474, P > 0.05). Conclusions There may be different mechanisms for the rest tremor and postural tremor in PD. There is no correlation identified between the frequency and intensity in PD and this is may be resulted from variability of tremor intensity. Dopaminergic can relieve the symptom of tremor, but it doesn't reduce the frequency of tremor.

Observation of curative effect of repeated botulinium toxin type A treatment for Meige's syndrome in senile people / 中华老年医学杂志

Objective To investigate the efficacy and safety of repeated botulinum toxin type A (BTX-A) treatment for Meige's syndrome in senile people. Methods Forty-eight senile patients with Meige's syndrome received BTX-A treatment for twelve times or over. The improvements of spasm were evaluated before and after the first, the sixth and the twelfth treatment according to Cohen's criteria. The onset time, effective duration and side effects were studied and compared among the three times treatments. Results The obvious effective rate of the three times treatment were all 100%. The average onset time of the three times treatments were (3.5± 1.7)days,(3.2±1.8)days and (3.3±1.9)days, and the average effective duration were (25.4±2.1)weeks,(24.6±2.3)weeks and (25.4±1.8)weeks, respectively. The incidences of side effects were 8. 3% (4/48), 6.3(3/48)%and 8.3%(4/48), respectively. All the differences were not statistically significant(P>0.05). Conclusions Repeated BTX-A treatment is an effective and safe method for Meige's syndrome in senile people.

Quantitative evaluation on irregular shape of hematoma / 中华神经科杂志

Objective To assess the irregular shape of hematoma with math methods,which is one of the risk factors of hematoma enlargement.Methods We reviewed images data of patients with spontaneous intracerebral hemorrhage treated nonsurgically who underwent initial computed tomography (CT) within 6 hours and repeated CT within 48 hours of onset.The area(s),the circumference(L),the greatest diameter(A)and the transverse diameter(B)of the greatest hemorrhage CT slice was measured.The formula X=L/S waft used to calculate the value.We calculated the area(S1)and the circumference (L1) of the ellipse with A as its long diameter and B as its short diameter.The formula X1=S1/L1 was used to calculate the value. We used formula R=X/X1 to assess the irregular hematoma shape.The relationships between hematoma enlargement and R was analyzed. Results Thirty-one patients(25.8%) showed enlarged hematomas after admission.The larger the value of R,the more irregular the shape of hematoma.When R≥1.3,the shape of the hematoma was significantly irregular.36.0% patients with R≥1.3 had hematoma enlarged.compared with only 18.6% those with R<1.3(χ2=4.62,P=0.032).Conclusions The irregular shape index R Can be used to assess the shape of a hematoma. A particularly high likelihood of hematoma enlargement is observed in patients with an irregularly shape index R≥1.3.