Objective To describe the clinical characteristics of a patient with Gitelman syndrome,and to identify the associated SLC12A3 gene mutations.Methods A suspected case of teenager-onset Gitelman syndrome was observed in our hospital.It was further confirmed by clinical manifestations and auxiliary examination.In addition,direct sequencing for the exons of SLC12A3 gene and CLCNKB gene region was conducted to identify the probable disease-associated mutations.Results The case showed characteristics of hypokalemia,hypomagnesemia,and low level of urinary calcium and onset by age of 18.By excluding the possibilities of long-term use of thiazide diuretics,laxatives,chronic vomiting and diarrhea,he was finally diagnosed as a case of Gitelman syndrome.Furthermore,by Sanger direct sequencing,2 coding variations were identified in SLC12A3 gene region,including T304M and L488P.L488P was a new heterozygous mutation.Conclusion Detection of SLC12A3 gene mutation could facilitate the diagnosis of Gitelman syndrome and improve prognosis.

Adrenalectomy ; Adult ; Angiomyolipoma ; pathology ; surgery ; Follow-Up Studies ; Humans ; Kidney ; pathology ; Kidney Neoplasms ; pathology ; surgery ; Lymph Node Excision ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; Male ; Nephrectomy ; Ureter ; surgery

12E7 Antigen ; Aged ; Antigens, CD ; metabolism ; Cell Adhesion Molecules ; metabolism ; Diagnosis, Differential ; Giant Cell Tumors ; pathology ; Giant Cells ; pathology ; Humans ; Male ; Mesenchymoma ; pathology ; Mucin-1 ; metabolism ; Myositis Ossificans ; pathology ; Osteosarcoma ; metabolism ; pathology ; surgery ; Penile Neoplasms ; metabolism ; pathology ; surgery ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Vimentin ; metabolism

Objective To investigate the effects of low frequency ultrasound (LFU) on the proliferation and apoptosis of smooth muscle cells (SMCs) in rabbits with carotid atherosclerosis(CA).Methods CA models were established in 30 New Zealand rabbits using a high fat diet and air-drying.They were randomly divided into a control group and four LFU groups:group A received 0.5 W/cm~2 LFU for 5 min/d,group B 0.5 W/cm~2 for 10 min/d, group C 1 W/cm~2,5 min/d,and group D 1 W/cm~2,10 min/d.The rabbits' carotid arteries were autopsied after 20 d of the LFU treatment.The expression of PCNA and TUNEL staining were used to explore the proliferation and apopto- sis of SMCs,and the proliferation rates (PRs) and apoptosis rates (ARs) were calculated.Results Compared with the control group,the PRs in groups B,C and D were significantly lower,while the ARs in groups B,C and D were significantly higher.There was no significant difference in ARs or PRs among groups B,C and D.Con- clusion LFU can induce SMC apoptosis and inhibit SMC proliferation in rabbits with CA.

Objectives To investigate the relationship between single nucleotide polymorphism (SNP)H558R in SCN5A gene and chronic Keshan disease (KSD) complicated with hypertension,and the relationship between H558R and occurrence of arrythmia in chronic KSD complicated with hypertension.MethodsThirty nine patients with chronic KSD complicated with hypertension and 63 geographical region matched hypertension control subjects were recruited in our study in Fuyu county,Qiqihaer city,Heilongjiang province between 2006 and 2010.H558R polymorphism in case and control groups was genotyped using the polymerase chain reaction single-strand conformation polymorphism(PCR-SSCP) and sequenced,and electrocardiography(ECG) characteristics were examined in the two groups.Case-control study analytical methods were applied to analyze the relationship between H558R and chronic KSD complicated with hypertension,and the relationship between H558R and occurrence of arrythmia in chronic KSD patients complicated with hypertension.Results Subjects of genotype 558 TC in the case group had a decreased risk of chronic KSD complicated with hypertension with odds ratio of 0.288[95％ confidence interval (CI):0.104 - 0.794],and subjects of genotype TC in chronic KSD complicated hypertension patients had a decreased risk of QRS prolongation with odds ratio of 0.061 (95％CI:0.006 - 0.612).Conclusions Polymorphism H558R in SCN5A gene may be a predisposition factor of chronic KSD complicated with hypertension and occurrence of arrythmia in chronic KSD complicated with hypertension.

OBJECTIVE: To explore the effects of granulocyte macrophage-colony-stimulating factor (GM-CSF) on the proliferation and activation of dendritic cells (DC) in vivo. METHODS: Balb/c mice were randomly assigned into the control and GM-CSF treatment group. After the lethal dosage of irridiation, green fluorescence protein labelled hematopoietic stem cells (HSC) were injected into the tail veins of the mice. The dosage of 0.1 micorg GM-CSF was administer subcutaneously every 2 days after the HSC infusion. The numbers and activation status of splenic DC were observed by flow cytometry 1, 2, 3, and 4 weeks after the HSC transplantation. RESULTS: The numbers of splenic DC in the GM-CSF treatment group were significantly higher than those of the control group. The expressions of surface marker CD40, CD80, and CD86 in the GM-CSF treatment group were also higher than those of the control group. CONCLUSION GM-CSF can enhance the proliferation and activation of DC in vivo.
Animals ; Cell Proliferation ; drug effects ; Cells, Cultured ; Dendritic Cells ; cytology ; Female ; Flow Cytometry ; Granulocyte-Macrophage Colony-Stimulating Factor ; pharmacology ; Hematopoietic Stem Cell Transplantation ; Male ; Mice ; Mice, Inbred BALB C ; Random Allocation ; Spleen ; cytology ; Whole-Body Irradiation

Objective:To explore the efficacy and safety of ticagrelor versus clopidogrel in acute coronary syndrome (ACS) Chinese patients using glycoprotein Ⅱb/Ⅲa inhibitor (GPI).Methods:The data from CCC-ACS (Improving Care for Cardiovascular Disease in China-ACS) project were systematically reviewed in ACS patients with GPI. The patients were divided into ticagrelor and clopidogrel groups. A logistic analysis and propensity score matching (PSM) were performed to compare occurrences of major cardiovascular events (MACE) and bleeding events between the two groups during hospitalization.Results:A total of 63 641 ACS patients were collected from 150 hospitals. Logistic regression analyses showed that there was no statistically significant difference in the reduction of MACE between ticagrelor and clopidogrel when using GPI ( OR=0.881, 95% CI 0.599-1.296; P=0.521). However, major bleeding rate was higher in the ticagrelor group than that in the clopidogrel group ( OR=1.401, 95% CI 1.075-1.852; P=0.013). Similar results were observed after PSM. No statistic difference in MACE between the ticagrelor and clopidogrel group ( OR=0.919, 95% CI 0.613-1.376; P=0.681). Major bleeding rate was higher in the ticagrelor group ( OR=1.559, 95% CI 1.130-2.150; P=0.007). Conclusion:In ACS patients with GPI, ticagrelor did not reduce MACE, but increased the major bleeding risk compared with clopidogrel.

The cupping spot is considered as one kind of skin change due to cupping treatment. With literature regarding cupping spot, the influencing factors and value of cupping spot in clinical diagnosis and treatment were analyzed, which could make a further exploration on the action mechanism of cupping treatment. The literature showed that the formation of cupping spot was related with cupping temperature, pressure, cup-retaining time, cupping area, individual difference and health condition, etc; cupping spot had the ability to assist diagnosis, prevent disease, cure disease and evaluate clinical efficacy. Previous studies on cupping spot have already made some progress, and played a positive significance on finding cupping rule and studying its mechanism. However, the research for this area is still in the primary stage, which needed deeper study to reveal scientific connotations of cupping spot.
Acupuncture Therapy ; instrumentation ; Humans ; Skin ; anatomy & histology ; blood supply

Female ; Heart Atria ; pathology ; Humans ; Middle Aged ; Pleural Effusion ; diagnosis ; diagnostic imaging ; Radiography ; Rheumatic Heart Disease ; diagnosis ; diagnostic imaging

OBJECTIVETo evaluate clinical outcomes of a group of adolescent idiopathic scoliosis (AIS) patients undergoing posterior pedicle screw-only instrumentations.

METHODSBetween April 2002 and July 2006, 121 AIS patients (93 female and 28 male, average age at operation was 15.5 years which ranged from 10 to 20 years) received posterior pedicle screw-only instrumentation and fusion. All the patients were evaluated by the various-parameters measured in X-ray films before and after surgery, including Cobb angle on coronal plane, Cobb angle on sagittal plane, clavicle angle and shoulder height difference, lowest instrumented vertebrae (LIV) angulation, proximal junction kyphotic angle, the distances of central sacral vertical line (CSVL) to the LIV, to the apical vertebra and to the C(7) plumb line respectively. Complications were followed.

RESULTSAn average of (11.0 + or - 1.5) levels was fused. An average coronal correction of proximal thoracic curve was 41.8%, of thoracic curve was 70.8%, of thoracolumbar/lumbar curves was 74.0%. No significant change was found in sagittal alignment. Shoulder balance and apex vertebral to central sacral line were restored well. There were no pseudoarthroses and loss of correction during the follow-ups. One adding-on, 4 proximal thoracic decompensation and 15 proximal junction kyphosis were found during the follow-ups.

CONCLUSIONPosterior pedicle screw-only instrumentation and fusion has excellent radiographic and clinical results with minimal complications in the surgical treatment of AIS.

Adolescent ; Bone Screws ; Child ; Female ; Follow-Up Studies ; Humans ; Male ; Retrospective Studies ; Scoliosis ; surgery ; Spinal Fusion ; instrumentation ; methods ; Treatment Outcome ; Young Adult