Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. According to genetic basis, dystonia is classified into 13 subtypes. We mainly discussed two subtypes, DYT1 and DYT5, in this review. Early-onset primary dystonia is caused by the mutation of DYT1 gene, which leads to TORSINA abnormal. GTP cyclohydrolase 1 (GTPCH1)-deficient DRD(DYT5) is caused by the mutations of GCH1 gene. By genetic testing, we can confirm clinical diagnosis of each subtype and develop prenatal diagnosis for it.

[Objective]To investigate the clinical outcomes of treatment of intertrochanteric and subtrochanteric fractures of the femur with the improved proximal femoral nail(PFN).[Method]Between April,2002 to Mach 2005,a total of 81 cases of intertrochanteric and subtrocha nteric femoral fractures were treated with close reduction and the improved PFN.There are 45 males and 36 females,with an average age of 63.6(35 to 91).According to the Evans classification: there are 5 cases of type Ⅰ,10 cases of type Ⅱ,12 cases of type ⅢA,21 cases of type ⅢB,28 cases oftypel Ⅴ,5 cases of type against femoral peritrochanteric.[Result]Sixty-two cases were followed up for 12 to 47 months,averaged 28.6 months.Fracture union was obtained in all the patients.Of 62 cases,one case had according to Harris criterion 56 cases were excellent,(rate 90.3%) and 2 cases good(3.2%) excellent and good rate of the function of the hip joint was 93.5%.[Conclusion]The improved PFN is a useful device in the treatment of perit rochanteric fractures of the femur.It is relatively easy with less surgical trauma,it and also has the advantages of anti-rotation,stress-dispersing,rigid fixation and allowing early functional exercises.The complications can be avoided with improved operative technique.

ObjectiveTo observe the relativity between cerebral infarction and dyslipidemia in patients with diabetes mellitus (DM).MethodsThe blood glucose and lipid of 66 DM cases and 30 normal healthy persons (as control group) were tested.ResultsIn the blood lipids of the diabetes group without vascular disease, only densities of triglyceride (TG), apolipoprotein A-Ⅰ (apoA-Ⅰ), apolipoprotein B (apoB), apoA-Ⅰ/apoB changed significantly compared with the control group (P<0.05), others without significant change. But blood lipids level of cerebral infarction group was significantly higher than that of the control group (P<0.01). In DM group, the patients with cerebral infarction had higher fasting blood glucose (FBG), glycosylated hemoglobin A1c (HbA1c), TG, low density lipoprotein cholesterol (LDL-ch), apoB, α-lipoprotein (LPα), but lower apolipoprotein A1 (apoA1) and apoA-Ⅰ/apoB than those of the without vascular disease group (P<0.05 or P<0.01).ConclusionDyslipidemia has some relativity with the cerebral infarction of DM.

OBJECTIVEThis study aims to evaluate the reliability and validity of the Chinese version of the chronic oral mucosal disease questionnaire (COMDQ).

METHODSUsing translation, back-translation, quality evaluation, cross-cultural adaptation, and pre-assessment, a Chinese version of the COMDQ was drafted. A 26-item instrument which comprised of four domains: pain and functional limitation, medications and side effects, social and emotional aspects, and patient support was designed and tested. This questionnaire was given to patients who visited our clinic. After the patients accomplished the questionnaires, we analyzed the collected data to evaluate the reliability and validity of the scale.

RESULTSA total of 130 patients were enrolled in our study. All the COMDQ questionnaires were completely filled out. The Chinese version of the COMDQ showed the following psychometric properties: Cronbach's alpha of 0.914, split-half reliability of 0.809, and correlation of 0.697. Factor analysis of construct validity demonstrated that the 26 items were classified into four domains, and the cumulative proportion was 67.62%. Thus, the scale had certain logical relation between the items in the same domains.

CONCLUSIONThe Chinese version of the COMDQ demonstrate good reliability and validity by rigorous psychometric properties. It can be widely used to test the oral health-related quality of life of patients with oral mucosal diseases.

Objective Duchenne muscular dystrophy(DMD)is one of the most common X-linked recessive neuromuscular degeneration diseases.It is caused by genetic defects of dystropin gene with deletion,duplication,or point mutation that results in clinical muscle fatigue and dystrophy.Usually,gene deletion of one or a few exons of dystrophin accounts for about 55%～65% patients,duplication for about 5%～10% patients and point mutation for 25%.Most of hot-spot deletion mutation of DMD can be detected by multiplex PCR and the point mutation can be detected by PCR/sequencing analysis,however,it remains a challenge to detect duplication.The recently developed MLPA(multiplex ligation-dependent probe amplification)is an efficient procedure that can accurately analyze the copy number and deletion mutation of whole dystropin gene.Methods A validation for simultaneous detection of entire dystropin gene was performed with two reactions.Both of which detect 39 and half exons of dystrophin gene.Results Nine out of 15 patients with DMD were found to have deletion mutation in different exons of dystrophin gene.Among these 9 patients,7 were found having deletion previously with multiplex PCR for mutation of hot-spot by Peking Union Medical University.Two patients who had not been found deletion by multiplex PCR were shown to have rare deletion at exon 18 or 43 in this study.Conclusions MLPA provides a simple,rapid and accurate method of simultaneously detecting homozygous,heterozygous deletions and duplication mutation in two single reactions for all exons of dystrophin gene,which may be applied into clinical molecular analysis for DMD.

Objective To investigate the effects of different doses rosuvastatin on carotid vulnerable plaques and cerebral ischemic events in patients with transient ischemic attack (TIA).Methods The TIA patients with carotid vulnerable plaques were enrolled retrospectively.They were randomly divided into either a rosuvastatin conventional dose group or a high-dose group.On the basis of conventional treatment,the former was also given rosuvastatin 10 mg/d,and on the basis of conventional treatment,the latter also took rosuvastatin 20 mg/d.The patients were followed up for 6 months.Blood lipid was detected before and after treatment.The carotid intima-media thickness (IMT),atherosclerotic plaque area,and Crouse plaque score were detected with cervical vascular ultrasound.The incidences of cerebral ischemic events were compared within six months after treatment.Results A total of 71 patients were enrolled.There were 35 patients in the conventional-dose group and 36 patients in the high-dose group.Two and one patients were lost to follow up respectively in both the conventional-dose group and the high-dose group.There were no significant differences in baseline total cholesterol (TC) (5.65 ± 1.05 mmol/L vs.5.46 ±0.87 mmol/L;t =0.812,P =0.419),triacylglycerol (TG) (2.85 ± 0.74 mmol/L vs.2.95 ± 0.86 mmol/L;t =0.513,P =0.609),low-density lipoprotein cholesterol (LDL-C) (4.11 ± 0.47 mmol/L vs.4.08 ± 0.33 mmol/L;t =0.304,P =0.761),and high-density lipoprotein cholesterol (HDL-C) (1.27 ± 0.22 mmol/Lvs.1.23 ± 0.20 mmol/L;t =1.339,P =0.185) between the high-dose group and the conventional dose group.After treatment,TC (3.06±0.77 mmol/L vs.4.98 ±0.78 mmol/L;t=10.214,P＜0.001),TG (2.15±0.56 mmol/L vs.2.52 ± 0.68 mmol/L;t =2.492,P =0.015),and LDL-C (2.18 ± 0.59 mmol/L vs.3.86 ± 0.42 mmol/L;t =13.526,P＜0.001) in the high-dose group were significantly lower than those in the latter,while HDL-C (1.43 ±0.20 mmol/L vs.1.33 ± 0.21 mmol/L;t =2.010,P =0.048) was significantly higher than the conventional dose group.There were no significant differences in baseline IMT (1.59 ± 0.26 mm vs.1.58 ± 0.28 mm;t =0.152,P =0.879),plaque area (0.87 ± 0.29 mm2 vs.0.85 ± 0.34 mm2;t =0.261,P =0.749),and Crouse score (4.26 ± 0.31 mm vs.4.18 ± 0.25 mm;t =1.171,P =0.245) between the high-dose group and the conventional dose group;after treatment,IMT (1.26 ± 0.25 mm vs.1.44 ±0.27 mm;t =2.852,P=0.005),plaque area (0.50±0.25 mm2 vs.0.70±0.25 mm2;t=3.298,P=0.001),and Crouse score (2.30 ±0.26 mm vs.4.03 ±0.24 mm;t =28.509,P ＜0.001) in the high-dose group were significantly decreased compared with the conventional dose group.The incidence of cerebral ischemic events in the high-dose group was significantly lower than that in the conventional dose group (11.76％ vs.29.41％;x2 =3.202,P =0.001).Conclusions Rosuvastatin has significant lipid-lowering effect.It can eliminate or stabilize carotid vulnerable plaque and reduce ischemic stroke events.The effect of rosuvastatin 20 mg/d is superior to that of rosuvastatin 10 mg/d.

The plan of three early educations is based on our real education condition, which builds a bridge between the traditional education and advanced education as a balance and breakthrough. It means the early involvement of clinic, the early involvement of scientific research and the early involvement of social practice.

Objective To check the neutrophil count and the expression of cell surface adhesion molecule,lymphocyte function associated antigen?1(LFA?1)in peripheral neutrophils in severe preeclamptic patients and normal pregnant women in order to investigate the correlation of neutrophil activation with preeclampsia. Methods Totally 28 pregnant women in the department of gynecology and obstetrics in Shengjing Hospital from No?vember 2013 to January 2014 were included in the study,and divided into the severe preeclampsia group(n=14),and the control group(normal pregnant women,n=14). There was no statistically significant difference in age and gestational weeks between the two groups. The expression of LFA?1 in peripheral neutrophils was detected by flow cytometry in the two groups. Mean blood pressure(MBP)was measured in the severe preeclamptic group,and the correlation of MBP with expression of LFA?1 was analyzed. Results The neutrophil count was 8.40±2.23 ×109/L in the severe pre?eclamptic group,significantly higher than(6.71±1.58)×109/L in the control group,(P<0.05). The positive rate of LFA?1 in peripheral neutrophils was 63.25±38.025%in the severe preeclamptic patients,significantly higher than 8.32±38.65%in the control group(P<0.05). The expression lev?el of LFA?1 in peripheral neutrophils was significantly correlated with mean blood pressure in severe preeclamptic patients(r=0.64,P=0.013). Conclusion The neutrophil count and the expression of LFA?1 in peripheral neutrophils were significantly increased in severe preeclamptic pa?tients compared to normal pregnant women,and significantly correlated with severity of preeclampsia,suggesting that neutrophil activation participat?ed in the pathogenesis of preeclampsia.

Objective To summarize the imaging features of intra-pancreatic accessory spleen (IPAS)with multidetector computed tomography (MDCT) and improve the awareness and correct diagnosis of IPAS.Methods MDCT images of seven consecutive patients with surgically and pathologically confirmed IPAS were reviewed retrospectively.The investigated features included the location,size,shape,margin,density,and enhancement of the lesions.Results Four patients were male and three were female with a mean age of 49 years old.All the lesions were located at the dorsal side of parenchyma under the capsule of pancreatic tail.Three lesions were in round-like shape,and 4 in oval shape and all were well-defined.All the lesions were mass-like without necrosis and calcification.The maximum diameter of lesion ranged from 0.9 ～ 1.8 cm with a mean value of 1.4 cm.Compared with pancreatic parenchyma,the density of lesions were homogeneous on unenhanced CT,in arterial phase,slightly increased heterogeneous density was observed in 3 patients,slightly increased homogeneous density was observed in 4 patients.All the lesions appeared as slightly increased homogeneous density in portal phase.The CT value in unenhanced phase ranged from 50 ～ 61 Hu with a mean number of 55 Hu; and it ranged from 80 ～ 110 Hu with a mean number of 97 Hu in arterial phase; and the corresponding value was from 99 ～ 120 Hu with a mean number of 102 Hu in portal phase.Among the three patients underwent MDCT angiography,neither artery nor vein was compressed or invaded,and there was no vessel connected with lesions.Conclusions IPAS has some MDCT characteristics.For small solid mass in pancreatic tail,if the density and enhancement pattern is similar to that of spleen,the diagnosis of IPAS should be considered.

Objective To analyze and determine the clinical, molecular pathology and genetic features of a Chinese family with dystrophinopathy. Methods Clinical data of the proband and his family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with antimerosin, emerin and the N, C and central rod domains of dystrophin. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes. Multiplex ligation-dependent probe amplification (MLPA) was used to test Duchenne muscular dystrophy (DMD) gene to determine the ways and sites of genetic mutation, and analyze the relationships between genotype and phenotype. Results Patients from this family were clinically diagnosed as muscular dystrophy, and they presented serious manifestations although the immunohistochemistry analysis for the proband exhibited partial loss of dystrophin staining, and positive expression with merosin and emerin. Further test with MLPA detected the loss of exons 45--54 in DMD gene in the proband, while his mother had heterozygositic loss in exons 45--54. Conclusions The losses of exons 45--54 in the proband are all derived from his mother, who carries genetic mutation with normal phenotype. He has been diagnosed as dystrophinopathy. At the same time, his partial loss of dystrophin is not parallel to the out-of-frame mutation of the gene and his severe clinical manifestations. Abnormal expression of dystrophin is the pathological basis for dystrophinopathy phenotype. Its clinical outcome depends not only on the degree of the protein expression, but also on the function of the sites where the DMD gene less occurs.