Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X?linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. Methods: Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited. The targeted next?generation sequencing (NGS) and the multiplex ligation?dependent probe analysis (MLPA) were performed in the proband. Blood tests, electrocardiography, echocardiography, and electromyography were also evaluated. Results: Two novel mutations of DMD gene were identified, c.7318C>T(p.Q2440*) in the male proband and c.4983dupA(p.A1662Sfs*24) in the female carrier. The MLPA analysis did not detect any large rearrangements. The haplotype analysis indicated that the two mutations were derived from de novo mutagenesis. Conclusions: We identified two novel de novo mutations of DMD gene in two Chinese pedigrees, one of which caused a female patient with muscular dystrophy. The mutational analysis is important for DMD patients and carriers in the absence of a family history. The NGS can help detect the mutations in MLPA?negative patients.

OBJECTIVETo study the clinical characteristics and the treatment of periorbital injuries.

METHODS61 cases were treated, including 30 cases orbitozygomatic fracture, 6 cases of frontal-orbital fracture, 8 cases of naso-ethmoid-orbital fracture, 7 cases of blow -out fracture and 10 cases of complicated fracture. The patients were diagnosed after physical examination and other examination, like CT. Through bicoronal or local mini incision at the end of eyebrow, combined with subciliary incision and local wound approach, the fractured sites were exposed completely. Then the fractured fragments were repositioned and fixed rigidly. The orbital wall was reconstructed with titanium net and Medpor.

RESULTSThe wounds healed primarily. Good cosmetic and functional results achieved in most of the patients. 4 cases underwent second-stage ophthalmectomy. 2 patients had diplopia after operation, but improved gradually. 3 cases of blepharoptosis needed further treatment.

CONCLUSIONSEarly diagnosis and treatment is very important for periorbital injuries. Fracture reposition and orbital wall reconstruction should he performed at early period.

Adolescent ; Adult ; Aged ; Child ; Female ; Fracture Fixation, Internal ; Humans ; Male ; Middle Aged ; Orbital Fractures ; surgery ; Skull Fractures ; surgery ; Young Adult

Objective To investigate the efficacy and safety of balloon-assisted catheter directed thrombolysis (CDT) for acute lower extremity deep vein thrombosis (DVT).Methods From September 2008 to February 2011,94 patients with acute lower extremity DVT were admitted.The cases in early stage were treated by CDT (Group A,n =50),and the cases in late stage were treated by balloon-assisted CDT ( Group B,n =44).The clinical data of these patients were retrospectively analyzed.The circumference difference between normal and affected limbs,scores of venous patency,and rates of venous patency were recorded for judging the efficacy.The total dose of urokinase and retention time of infusion catheter was compared between the two groups.The incidence of pulmonary embolism and bleeding were used to judge the safety of treatment.The venous patency was followed up by ultrasound or/and venography.Measurement data with normal distribution was described by mean + standard,and was analyzed using T test.Measurement data with non-normal distribution was described by M ( QL,QU ),QL =P25,QU =P75,and was analyzed using Wilcoxon' s test.Categorical variable data was analyzed using Chi-Square test Results The prior treatment circunfference difference between normal and affectéd limbs were (5.37 ±1.97) cm (thigh) & (4.14 ± 1.57) cm (calf) in Group A and (5.41±2.22) cm (thigh) & (4.05 ±1.61) cm (calf) in Group B ; and the difference between the groups was insignificant ( thigh:t =- 0.113,P=0.910; calf:t =0.288,P =0.774).The post treatment correspondences were:(2.96 ± 1.10) cm (thigh) & ( 1.93 ± 0.84 ) cm (calf) in Group A and ( 1.78 ± 1.40) cm ( thigh ) & ( 1.41± 1.17 ) cm (calf) in Group B; the difference between the groups was significant (thigh:t =4.66,P ＜0.0001; calf:t =2.548,P =0.012 ).The prior treatment score of venous patency was 9 (8,10) in Group A and 8.3(7,10) in Group B without significant difference (Z =- 1.5172,P =0.1292).The post treatment score of venous patency was 3.5 ( 2,5 ) in Group A and 0 ( 0,1) in Group B with significant difference ( Z =-5.7702,P ＜0.01).The rate of venous patency after the treatment was 55.0％ (42.3％,72.4％ ) in Group A and 100％ (88.5％,100％ ) in Group B,with significant difference ( Z =4.9148,P ＜ 0.01).The total dose of urokinase used in the treatment was 5.950 ( 5.525,7.225 ) × 106U in Group A and 4.100 (3.600,5.050) × 106U in Group B with significant difference (Z =-6.0133,P ＜ 0.01).The retention time of perfusion catheter was 10 (9,12) d in Group A and 6 (5,7) d in Group B with significant difference ( Z =- 8.0358,P ＜ 0.01).No symptomatic pulmonary embolism occurred in both groups during the treatment and follow-up period.The rate of bleeding complication was 38.0％ (19/50) in Group A and 22.3％ (10/44) in Group B,without significant difference (x2 =2.5590,P =0.1097 ).The removal rate of optional filter was 88.37％ (38/43) in Group A and 100％ (39/39) in Group B,with significant difference ( x2 =4.829,P =0.028 ).The rate of venous patency at the last follow-up point was 50.0％ (44.4％,59.2％ ) in Group A,and 95.4％ (83.6％,100％ ) in Group B,with significant difference (Z =- 3.2721,P =0.0011).Conclusions Balloon-assisted CDT was a promising treatment for acute lower-extremity DVT.It improved the effect of thrombolysis and reduced the dosage of urokinase,and did not increase the risk of pulmonary embolism.

Objective To observe the immunohigical effects of three doses of H2 strain live attenuated hepatitis A vaccine 8 years after the administration and to compare with that of one dose of the vaccine. Methods In a country area, 110 children of 1 to 7 years old susceptible to HAV were screened and administered with one dose of the vaccine, as group B ; Group A were 42 children from one of the villages and administered with 3 doses of the vaccine according to 0, 2, 6 month schedule. Blood samples were taken for the children 1, 2, 6, 7, 8,12, 24, 36 and 96 months after the administrations respectively and detected for anti-HAV antibody. Results For group B, the sero conversion rate of anti-HAV and GMC reached peak at 92.2% and 126.2 mIU/ml respectively,and then, began to drop with time; For group A, after 2 dose of the vaccine, the sero-conversion rate reached 100%, and the GMC reached peak of 2 739 mIU/ml one month after the third dose at 7 months. So that, group A has a better short-term immunological effects than that of group B. During 36 through 96 months, the anti-HAV positive rate in group B was 75%-71% and 80-89 mIU/ml respectively, and comparatively in group A were 100% and 918.2-480.6 mIU/ml respectively. The differences between group A and B were significantly important. Conclusion A 3-dose schedule administration of H2 strain live attenuated hepatitis .A vaccine has better immunological effects than 1-dose schedule in 8years and further observations are needed.

OBJECTIVETo investigate the regulatory effect of potassium channel blocker (tetraethylammonium [TEA], aminopyridine [4-AP], glibenclamide [Glib]) on the proliferation of SD rat prostatic epithelial cells in vitro.

METHODSThe primary culture was prepared by collagenase dissociation of minced prostatic tissues. Cells were cultured in serum-free prostate epithelial cell growth media and identified by immunocytochemical studies. TEA and 4-AP at the concentration of 1, 5 and 10 mmol/L and Glib at the concentration of 10, 50 and 100 mol/L were added, and after 24, 48 and 72 hours of culturing, a cell column diagram was drawn and the cell number counted. The post-passage cell growth was observed by MTT assay and Hoechst33258 nucleus staining.

RESULTSThe cultured cells showed the typical morphological features of epithelia, with positive stain. MTT assay and Hoechst33258 staining showed that TEA, 4-AP and Glib at the increasing concentration effected different degrees of proliferation of prostatic epithelial cells after 24, 48 and 72 h (P < 0.01).

CONCLUSIONThe potassium channel blocker is a direct physiological regulator of the proliferation of SD rat prostatic epithelial cells.

Animals ; Cell Proliferation ; drug effects ; Cells, Cultured ; Epithelial Cells ; drug effects ; Male ; Potassium Channel Blockers ; pharmacology ; Prostate ; cytology ; drug effects ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo study the alveolar bone surrounding situation and the length of the root of the maxillary labial inverted impacted incisor in mixed dentition after orthodontic treatment.

METHODSFourteen cases with maxillary labial inverted impacted incisor in mixed dentition were collected. Modified Nance arch and conventional appliance were used. Cone-bean CT (CBCT) was taken after the treatment. Simplant13.0 three-dimensional reconstruction and multi-planer reconstruction (MPR) method were used to observe the labial and lingual alveolar bone crest morphology, besides, the labial and lingual length from the alveolar bone crest to cemento-enamel junction (CEJ) of the impacted incisor and the homonym tooth after treatment, along with their root length and their labial and lingual length ratio of the root surrounded by the alveolar bone to the total root length were measured. The idependent samples t-test were used to analyze the variable differences.

RESULTSThe labial and lingual alveolar bone of fourteen cases crest of the diseased tooth after treatment presented general symmetry U shape from qualitative observation through the three-dimensional reconstruction. The labial and the lingual length of the diseased incisor from alveolar bone crest to CEJ [(2.47 ± 1.35) and (1.47 ± 0.84) mm] was significant increased than those of the homonym incisor [(1.03 ± 0.35) and (0.90 ± 0.37) mm] (P < 0.05); the length of the diseased incisor's post-treatment root [(9.82 ± 2.82) mm] was no statistically significant decreased than that of the homonym incisor root [(10.28 ± 1.38) mm, P = 0.59]; the labial and the lingual length ratio of the impacted tooth's root surrounded by the alveolar bone to the total root length [(72.83 ± 17.16)% and (85.32 ± 5.98)%] was statistically significant decrease than those of homonym teeth[(89.66 ± 3.98)% and (90.84 ± 4.61)%] (P < 0.05).

CONCLUSIONSThe diseased tooth's root had gotten enough length after the treatment. The labial and lingual alveolar bone of the maxillary labial inverted impacted incisor in mixed dentition can't offer sufficient adaptive hyperplasia after treatment, of which labial alveolar bone is more apparent, prompting careful protection when they were used.

Alveolar Process ; diagnostic imaging ; pathology ; Child ; Cone-Beam Computed Tomography ; Dentition, Mixed ; Female ; Follow-Up Studies ; Humans ; Incisor ; diagnostic imaging ; pathology ; surgery ; Male ; Maxilla ; diagnostic imaging ; pathology ; surgery ; Orthodontic Extrusion ; Tooth Root ; diagnostic imaging ; pathology ; Tooth, Impacted ; diagnostic imaging ; surgery

Aim To investigate the effect of TaorenHonghua drug pair on intervertebral disc degeneration (IVDD) in rats.Methods Fifty healthy Wistar rats were randomly divided into control group,model group,sham group,meloxicam group and Taoren-Honghua drug pair group,with 10 rats in each group.We established dynamic and static forces imbalance of cervical disc degeneration model or sham surgery in rats.12 weeks later,rats were intragastrically administered with meloxicam,Taoren-Honghua drug pair or saline for 30 days.C4/5 and C6/7 discs were harvested from rats.ABOG staining was used for observation of intervertebral disc morphology,real time PCR for mRNA expressions of type Ⅱ collagen (Col Ⅱ) and type Ⅹ collagen (Col Ⅹ),and immunohistochemical staining for Col Ⅱ and Col Ⅹ.Results Compared with model group,Col Ⅱ expression increased,while Col X expression decreased in chondrocyte of intervertebral disc in Taoren-Honghua-treated group(P ＜ 0.01).Conclusion Taoren-Honghua drug pair could delay the degeneration of cartilage endplate in rat intervertebral disc.

To investigate the influence of Anxin granules combined with tirofiban on acute myocardial infarction (AMI) Patients after elective percutaneous coronary intervention (PCI). One hundred and twenty AMI patients were randomly divided into treatment group and control group. The patients in the two groups were all given Tirofiban 30mins before PCI . The treatment group was added Anxin granules 30 mins before and after PCI. Tissue factor (TF) and von willebrand factor (vWF) were tested at 6 hours after operation. Syndromatology alteration of traditional Chinese medicine (TCM) and bleeding complications were observed at 4 weeks after operation. Both TF and vWF at 6 hours after operation of the treatment group was lower than the control group significantly (P < 0.01), while the condition of myocardial ischemia at 90 mins after operation of the treatment group was better than control group with significance. The syndromatology alteration of TCM especially spontaneous perspiration and hypodynamia of the treatment group were improved significantly compared to control group 4 weeks after operation. All patients in both groups had no bleeding complications and thrombopenia. The study suggests that Anxin granules combined with tirofiba can improve the clinical efficacy and the endothelial function of AMI patients after PCI with no increase in bleeding events.
Aged ; Angioplasty, Balloon, Coronary ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Humans ; Middle Aged ; Myocardial Infarction ; complications ; metabolism ; surgery ; Postoperative Hemorrhage ; drug therapy ; etiology ; metabolism ; prevention & control ; Thromboplastin ; metabolism ; von Willebrand Factor ; metabolism

Increasing studies have demonstrated that interferon gamma (IFN-γ),which serves as a critical inflammatory cytokine,is essential to induce the immunosuppressive effects of mesenchymal stem cells (MSCs).However,the mechanisms underlying the enhanced immunosuppressive effects of IFN-γ-stimulated MSCs (γMSCs) are not fully understood.MSC-derived rnicrovesicles (MSC-MVs) have been viewed as potential pivotal mediators of the immunosuppressive effects of MSCs.Moreover,microRNAs (miRNAs) are important regulators of immunological processes and can be shuttled from cell to cell by MVs.The aim of our study was to analyze the the miRNA expression signature of MVs derived from γMSCs (γMSC-MVs),which may provide better understanding of the immunosuppressive property of their parent cells.Through miRNA microarray and bioinformatics analysis,we found 62 significantly differentially expressed miRNAs (DEMs) in γMSC-MVs compared with MSC-MVs.And the potential target genes and signaling pathways regulated by DEMs were predicted and analyzed.Interestingly,many DEMs and predicted signaling pathways had been.demonstrated to be involved in immunoregulation.Furthermore,the network between immunoregulation-related pathways and relevant DEMs was constructed.Collectively,our research on the miRNA repertoires of γMSC-MVs not only provides new perspectives into the mechanisms underlying the enhanced immunosuppressive property of γMSCs,but also paves the way to clinical application of these potent organelles in the future.

Objective To investigate the association of ten single nucleotide polymorphisms (SNPs) in the peroxisome proliferator-activated receptor ( α,δ,γ) with obesity and the additional role of a gene-gene interaction among 10 SNPs.Methods Participants were recruited within the framework of the PMMJS (Prevention of Multiple Metabolic Disorders and Metabolic Syndrome in Jiangsu Province)-cohort-population-survey in the urban community of Jiangsu province,China.820 subjects (513 non obese subjects,307 obese subjects ) were randomly selected and no individuals were related to each other.Tea SNPs (rs135539,rs4253778,rs1800206,rs2016520,rs9794,rs10865710,rs1805192,rs709158,rs3856806,rs4684847) were selected from the HapMap database,which covered PPARα,PPARδ and PPARγ.Logistic regression model was used to examine the association between ten SNPs in the PPARs and obesity.Odds ratios (OR) and 95％ confident interval (95％CI) were calculated.Interactions were explored by using the Generalized Multifactor Dimensionality Reduction (GMDR).Results A group of 820 participants (mean age was 50.05 ± 9.41) was involved.The frequency of the mutant alleles of rs2016520 in obese populations was less than that in non-obese populations (26％ vs.33％,P＜ 0.0 1 ).The frequency of the mutant alleles of rs 10865710 in obese populations was more than that in non-obese populations (37％ vs.31％,P=0.01 ).C allele carriers had a significantly lower obesity occurrence than TT homozygotes [OR (95％ CI):0.63 (0.47-0.84) ] for rs2016520 but no significant association was observed between other SNP and incident obesity.GMDR analysis showed a significant gene-gene interaction among rs2016520,rs9794 and rs10865710 for the three-dimension models (P=0.0010),in which prediction accuracy was 0.5834 and cross-validation consistency was 9/10.It also showed a significant gene-gene interactions between rs2016520 and rs10865710 in all the two-dimensional models (P=0.0010),in which predictive accuracy was 0.5746 and cross-validation consistency was 9/10.Conclusion Our data showed that rs2016520 was associated with lower obesity risk,as well as interactions among rs2016520,rs9794 and rs 10865710 on incident obesity.