Objective To investigate the features of familiar facial palsy,ophthalmoplegia and dysphagia characterized by autosomal dominant inheritance in a family and to discuss the classification and pathogenesis of the disease.Methods Clinical,electrophysiological,pathological examinations were performed and blood samples were obtained from 5 patients and 26 family members.PCR protocol was used to identify a certain gene. Results In the 5 patients receiving physical examination,all had ptosis,external ophthalmoplegia,facial paralysis,dyphagia,hoarseness,decreased pharyngeal reflex;4 had amyotrophy of muscle of tongue,temporal nuscle,masseter and muscles of distal lower limbs;3 had proximal limb asthenia and distal limbs amyotrophy.Compared to those of oculopharyngeal muscular dystrophy(OPMD)with similar symptoms and signs,both electrophysiological manifestation and pathological findings of the family members supported the diagnosis of muscular dystrophy,but the(GCG)6(GCA)3GCG in the first exon of PABPN1 mutated neither in normal family members nor in patients.Conclusions This family presents clinical manifestations somewhat resembling to those of OPMD and distinctive to other disorders,but has a totally different genetic background from OPMD.It may be a new subtype of muscular dystrophy.

Objective To summarize the clinical characteristics and make genetic diagnosis in the patients with hereditary spinocerebellar ataxia type 7 (SCA7).Methods Pedigree analysis and clinical examination were performed in one family with SCA7 by clinical findings,of which retinal morphology and visual electrophysiology were available on part numbers.The polymorphic cytosine adenine guanine (CAG) repeats in the encode region of SCA7 gene were detected by combining polymerase chain reaction with deoxyribonucleic acide (DNA) sequencing on 19 familial numbers and 12 controls.Results 6 patients were identified,who manifesting cerebellar ataxia,decreased visual acuity and colour vision defect,as was pigmentary retinopathy on fundoscopy;The 6 patients had not only extinction of the electroretinogram (ERG) but also remarkably reduced amplitudes of oscillatory potentials and flash-visual evoked potentials. On normal alleles CAG repeat size ranges from 8 to 25 repeats,wherease on mutated alleles of the 6 numbers it ranges from 50 to 97 repeats.The 6 numbers were diagnosised as SCA7 patients.One asymptomatic individual of this family,who displayed a normal allele with 18 CAG repeats and another containing abnormal expantion of 56 repeats,was diagnosised as a asymptomatic carrier whose age maybe still below the age of onset.Conclusion The clinical manifestations of SCA7 are heterogeneous,and the detection of CAG repeats can provide an effective way for the gene diagnosis and the prediction of asymptomatic patients.

BACKGROUNDSpinocerebellar ataxia type 7 (SCA7) is known as an autosomal dominant cerebellar ataxia; patients with genetically confirmed diagnoses of SCA7 have increased rapidly in recent years. However, SCA7 is a rare subtype of SCA, and most data available about SCA7 are those of white people. The aim of the present study was to systematically review the prevalence and clinical and genetic aspects of SCA7 patients in East Asian population.

METHODSA search for publications on SCA7 was performed by using the "PubMed" database with the published language limited in English. Publications mainly focusing on the prevalence of SCA7 in patients with SCA and the clinical and genetic features of SCA7 patients were fully reviewed and analyzed.

RESULTSThe prevalence of SCA7 in SCA patients ranged from 0 to 7.7%, which was similar to those reported previously. The clinical manifestations were typically present at the 30's of its victims (median, 29 years; interquartile range (IQR), 19.5-36.5 years), and the symptoms appeared 15 years ((15.17+/-4.22) years) earlier on average in the offspring than in the parents. Gait ataxia and visual impairment were both found in all patients of whom the clinical features were described. Mutant SCA7 alleles contained 40-100 CAG repeats, with a median of 47 repeats (IQR, 44.5-50.0); and the offspring had 13 more repeats on average compared with their parents (12.62+/-19.03). A strong negative correlation was found between CAG repeat size and the onset age of patients (r=-0.739, P=0.000). In addition, no significant difference was found in CAG repeat sizes between patients with visual impairment as the initial symptom and those with gait disturbance as their initial symptom (P=0.476).

CONCLUSIONSThe prevalence of SCA7 in SCA patients, the age at onset and CAG repeats of SCA7 patients in East Asia are consistent with those of white people. However, larger population study is needed to assess the correlation between the CAG repeat size and initial symptoms of SCA7 patients in East Asia.

Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Far East ; Female ; Humans ; Male ; Middle Aged ; Spinocerebellar Ataxias ; epidemiology ; genetics ; Young Adult

OBJECTIVETo explore the satisfactory rate in patients with body dysmorphic disorder (BDD) after cosmetic surgery.

METHODSWe designed a questionnaire to investigate the postoperative satisfactory rate in patients with BDD and without BDD.

RESULTSThere was significant difference in postoperative satisfactory rate between patients with BDD and without BDD.

CONCLUSIONThe patients with BDD have a lower satisfactory rate, which is even worse after repeated surgery.

Adult ; Body Dysmorphic Disorders ; psychology ; Body Image ; Female ; Humans ; Male ; Middle Aged ; Patient Satisfaction ; Surgery, Plastic ; Surveys and Questionnaires

OBJECTIVEStem cells transplantation is a promising strategy in cardiology. This meta-analysis summarizes the efficacy and safety of stem cells transplantation on top of standard medication on chronic heart failure patients.

METHODSThe following databases were searched, including Cochrane Library (Issue 4, 2011), PubMed (1980 to 2011), Embase (1990 to 2011), CBM (1978 to 2011), CNKI (1994 to 2011), VIP (1989 to 2011), and WanFang Data (1998 to 2011). Search criteria:studies were screened and the quality was evaluated according to predefined inclusion and exclusion criteria. Intervention measures: the treatment group using stem cell transplantation therapy on top of standard drug treatment, while the control group using standard drug treatments.

RESULTSA total of 31 studies involving 2375 patients were included. The results show that the improvement of LVEDV in the stem cell treatment group is greater than in the control group [SMD = -11.8% (95%CI: -0.223 - 0.013), P = 0.027] and the relative-risk of cardiac events is lower in stem cell treatment group [RR = 0.77 (95%CI: 0.66 - 0.90), P < 0.01] than in control group.

CONCLUSIONStem cells therapy is effective in improving cardiac remodeling and reducing the relative-risk of cardiac events in patients with chronic heart failure.

Chronic Disease ; Heart Failure ; physiopathology ; surgery ; Humans ; Stem Cell Transplantation ; Ventricular Remodeling

OBJECTIVETo study the role of cerebrovascular hemodynamic indexes (CVHI) changing in stroke and to provide reference for stroke prevention and risk factor study.

METHODSFrom 2003 to 2004, participants aged 40 years and above in two communities in Fengxian district were recruited by cluster sampling. Risk factors of stroke and CVHI were investigated and checked during baseline investigation. A total of 10 565 individuals completed the survey and met the inclusion criterion. After baseline investigation, the cohort was followed up for stroke occurrence. Relative risk (RR) of CVHI and common risk factors were estimated by cohort study design.

RESULTSAge of the cohort was (56.2 ± 11.4) years. 4444 (42.1%) were males and 6121 (57.9%) were females. Total follow-up duration was 67 885.7 person-years. A total of 195 stroke cases occurred and incidence density of stroke was 287.2 per 100 000 person-years. Stroke incidence in exposure groups of hypertension, heart disease and alcohol drinking was 3.47% (108/3118), 2.96% (21/710) and 2.50% (47/1882), respectively. The incidence in corresponding non-exposure group was 1.17% (87/7448), 1.77% (174/9855) and 1.70% (148/8683) respectively. There was significant difference between 2 groups (χ(2) value was 62.72, 4.56 and 4.94, respectively, P < 0.05). Stroke incidence in CVHI score < 25, 25 - 49, 50 - 74 and ≥ 75 groups was 9.12% (59/647), 5.68% (44/775), 2.52% (39/1545) and 0.72% (53/7403)(χ(2)trend = 273.57, P < 0.05), respectively. Incidence of stroke in 40 - 49, 50 - 59, 60 - 69, ≥ 70 years age group was 0.22% (8/3565), 1.28% (43/3357), 2.71% (50/1848) and 5.88% (94/1600) (χ(2)trend = 181.48, P < 0.05), respectively. Multiple Cox regression analysis indicated that RR (95%CI) value of hypertension and cigarette smoking was 1.40(1.02 - 1.92) and 1.59(1.19 - 2.12), respectively when comparing with non-exposure group. RR (95%CI) value in CVHI score < 25, 25 - 49 and 50 - 74 points group were 6.15 (4.08 - 9.26), 4.55 (2.98 - 6.96) and 2.68 (1.75 - 4.09), respectively when comparing with the score ≥ 75 points group. RR (95%CI) value in age 50 - 59, 60 - 69 and ≥ 70 years group was 4.61 (2.16 - 9.82), 7.81 (3.67 - 16.60) and 13.49(6.44 - 28.24), respectively when comparing with below 40 years group.

CONCLUSIONCVHI score is the strong independent predictive factor and hypertension, cigarette smoking and age are the independent risk factors of stroke.

Aged ; Brain ; physiopathology ; Cohort Studies ; Female ; Hemodynamics ; Humans ; Male ; Middle Aged ; Risk Factors ; Stroke ; epidemiology ; etiology ; physiopathology

OBJECTIVETo investigate the efficacy of the Chinese medicine Huzhangdanshenyin on male immune infertility, and provide an effective therapy for this disease.

METHODSNinety men with immune infertility were selected as the research subjects and randomly divided into two groups, 60 in the treatment group, treated by Huzhangdanshenyin, and the other 30 in the control, treated by prednisone, both for 3 months. The improvement of clinical symptoms, immunologic indexes (antisperm antibodies in serum and seminal plasma) and sperm indexes (semen liquefied duration, motility, viability, density and abnormal morphology rate) were observed and the results analyzed.

RESULTSThe total antisperm antibody reversing ratio of the treatment group was higher than that of the control (P < 0.01), especially the serum antisperm antibody reversing ratio. There were significant differences in the clinical cure rate and total validity rate between the treatment group and the control (P < 0.01). After the treatment, the markers of the clinical symptoms (P < 0.01), especially the serum antisperm antibody reversing ratio. There were significant differences in the clinical cure rate and total validity rate between the treatment group and the control (P < 0.01). After the treatment, the markers of the clinical symptoms were lower (P < 0.01), and the improvement of the clinical symptoms was better in the treatment group than in the control (P < 0.01), especially the symptoms of pain in the back and knees, distending and bearing-down sensation of the perineum and testis, hypersexuality and topalgias. Compared with pre-treatment, sperm motility and viability of the treatment group significantly improved (P < 0.01), and so did sperm density (P < 0.05). However, there were no significant differences in sperm density, semen liquefied duration, abnormal morphology rate and pH (P > 0.05) before and after the treatment.

CONCLUSIONThe Chinese medicine Huzhangdanshenyin works more effectively than prednisone in the treatment of male immune infertility. It could improve the antisperm antibody reversing ratio, clinical symptoms and signs and ameliorate sperm indexes with no obvious advierse effects.

Adult ; Autoantibodies ; metabolism ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Infertility, Male ; drug therapy ; immunology ; Male ; Middle Aged ; Phytotherapy ; Sperm Count ; Sperm Motility ; Spermatozoa ; immunology

Objective: To analyze associations of MRI-lesions and clinical features with disability in patients with multiple sclerosis (MS) in Shanghai, China. Methods: We studied patients with MS, identified from a survey in Shanghai, whose sites of lesions in the CNS was based on the MRI examinations. Associations between MRI-lesions, various clinical variables and the severity of disability were analyzed with univariate and multivariate logistic regression analysis. Results: There were 210 patients in this study. The disability of the patients with lesions confined to the spinal cord was significantly more severe than those with lesions in the brain (p < 0.008). Current age (OR: 1.041, 95% CI: 1.007~1.077), MS duration (OR: 1.082, 95% CI: 1.011~1.159) and MRI-lesions in the spinal cord (OR: 2.441, 95% CI: 1.039~5.737) were significantly associated with severity of disability on multivariate logistic regression analysis. Conclusion: MRI-lesions in the spinal cord, older age, a longer MS duration were significantly associated with a more severe disability in this MS study in Shanghai China.

Speckle tracking echocardiography (STE) has been applied to the evaluation of cardiac contraction dysfunction. However, there were few studies on alteration of global and regional STE parameters in the process of myocardial hypertrophy and heart failure. In this study, STE was applied to evaluate the global and regional cardiac function under heart failure and hypertrophy in the mice model of pressure overload. Adult mice were subjected to mild or severe aortic banding with a 25 Gauge (G) or 27 G needle. After surgery, STE and conventional echocardiography were used in the sham group (n=10), mild trans-aortic banding (TAB) group (n=14) and severe TAB group (n=10) for 8 weeks. The results showed that the mice subjected to severe TAB showed a significant change in fractional shortening (FS), left ventricular (LV) mass, and left ventricular end diastolic diameter (LVEDD) (P<0.05 for each). Meanwhile, there were no significant differences in FS and LVEDD between the sham group and mild TAB group during the experimental procedures (P>0.05 for both). STE analysis revealed that longitudinal strain (LS) was significantly decreased in the severe TAB group as compared with the sham and mild TAB groups (P<0.05 for both) from the postoperative week 1. LS in the mild TAB group was reduced as compared to the sham group (P<0.05). Radial strain (RS) and circumferential strain (CS) were significantly decreased in the severe TAB group as compared to the sham group and the mild TAB group (P<0.05 for both) from the postoperative week 1 (P<0.05 for both). Compared to the sham group, CS in the mild TAB group maintained unchanged during the test period, and RS was reduced only on the postoperative week 6 (P<0.05). Finally, regional contraction dysfunction was analyzed in both hypertrophic and failing myocardium in longitudinal and radial directions. It was found that LS was largest in the apex region and RS was smallest in the apex region in the healthy and hypertrophic myocardium. It was also found that compared to the sham group, only base longitudinal strain in the mild TAB group was decreased. Each of regional strain in the severe TAB group was uniformly depressed in radial and longitudinal directions. It is concluded that STE has provided a non-invasive and highly feasible way to explore the global and regional contraction dysfunction in hypertrophic and heart failure myocardium in the murine model of pressure overload.
Animals ; Cardiomegaly ; physiopathology ; Disease Models, Animal ; Echocardiography ; methods ; Heart Failure ; physiopathology ; Male ; Mice ; Mice, Inbred C57BL