AIM:To study the expression of matrix metalloproteinase-9(MMP-9),matrix metalloproteinase-2(MMP-2) and the tissue inhibitor of metalloproteinase(TIMP-1) in the lung tissue of the hypercapnia rat.METHODS:Forty Wistar rats were randomly divided into a control group (group A,n=20) and hypercapnia group (group B,n=20). Group B received mix gas exposure (6% CO_2,21% O_2,72% N_2) 7 h daily for 4 weeks. The parameters we would examine were as follow:arterial blood gas;the mean pulmonary artery pressure;MMP-2,MMP-9,TIMP-1,and NE activity in lung tissue. Masson pigmentation of elasticity fibre was analyzed by computer image analyzer. Histopathological changes of lung tissue were observed under light microscope. The protein expression of MMP (MMP-2,MMP-9) and TIMP (TIMP-1) in lung tissue were determined by immunocytochemistry.RESULTS:Decompensate respiratory acidosis (pH=7.20±0.04,PaCO_2=7.84±0.15) developed in group B. The mean pulmonary artery pressure were similar between groups B and A (P>0.05). Tissue edema in the lung,endothelial cell damage of the small blood vessels,pulmonary micro thrombus formations and increased pulmonary capillary permeability were observed in group B. NE activity increased significantly (P<0.01). However,no significant change of MMP-2,MMP-9,TIMP-1 activity was found in group B and group A (P>0.05). There was significant decrease in the relative content of elasticity fibre in lung tissue in group B compared to group A (P<0.01). The expression of MMP-2 protein in the lung tissue of group B was lower than that in group A (P<0.01),but the expression of both MMP-9 and TIMP-1 proteins in the lung tissue in group B were higher than those in group A (P<0.01).CONCLUSION:Hypercapnia rat model is successfully reproduced by exposure of animals to the mix gas exposure (6% CO_2,21% O_2,and 72% N_2). The pulmonary artery pressure is not affected by hypercapnia. High concentration of CO_2 causes increase of NE activity and decrease in the relative content of elasticity fibre. High concentration of CO_2 causes the increase of MMP-2 protein expression and decrease in the MMP-9 and TIMP-1 protein expression.

Objective To observe the clinical effects of ambroxol on acute stroke-associated pneumonia (SAP).Methods From July 2011 to December 2012,a total of 82 patients with strokeassociated pneumonia (SAP) admitted to our hospital were selected and randomly divided into ambroxol group (n=43,treated with ambroxol in combination with antibiotic therapy) and control group (n =39,treated with antibiotic therapy).The defervescence time,hospitalization time,antibiotic use time,C-reactive protein level,blood oxygen partial pressure,bacterial clearance rate and the total effective rate were compared between the two groups.Results The defervescence time,hospitalization time,antibiotic use time were shorter in ambroxol group than in control group [(3.1 ± 0.8)d vs.(3.8±1.1)d,(11.7±3.7)d vs.(13.6±4.9)d,(5.4±1.7)dvs.(6.6±2.1)d,t=18.60,22.80,23.50,P=0.014,0.008,0.011,repectively].Bacterial clearance rate and the total effective rate were higher in ambroxol group than in control group [90.7％ vs.74.4％,93.0％ vs.74.4％,x2 =3.86,5.34,P=0.05,0.02].There were no significant differences in changes of C-reactive protein level and blood oxygen partial pressure between two groups before and after treatment (all P＞0.05).Conclusions Ambroxol is an effective treatment for acute stroke associated pneumonia,which can shorten antibiotic use time and duration of symptoms and remove bacteria effectively.

This report presented a male patient aged 69 years,who was admitted into our hospital for fever,hemoptysis and chest pain.Chest X-Ray showed shadows on the right lung and pleural thickening.The effect of broad spectrum antibiotic therapy was poor.With the disease progressed,pleural effusion appeared on the right side.Blood culture showed methicillin-resistant staphylococcus aureus.Pleural effusion tests indicated pyothorax,but the effects of closed chest drainage and sensitive antibiotic therapy were poor.After disentangling with open thoracic exploration,the right middle lobe was resected and the right lung lobe pathology showed Wegener granulomatosis.His blood antineutrophil cytoplasmic autoantibodies was negative.The paranasal sinus CT scan and renal function showed no abnormalities.The definitive diagnosis was pulmonary limited Wegener granulomatosis.

Objective To explore the effects and mechanism of bexarotene in combination with tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) on apoptosis of leukemic cell line KG1a. Methods KG1a cells at logarithmic growth phase were obtained, and were divided into TRAIL group, bexarotene group, 300 ng/mL TRAIL in combination with bexarotene group and 2.0 μmol/L bexaroten in combination with TRAIL group. Cell apoptosis rate was detected in each group by flow cytometry. Flow cytometry was also employed to determine the apoptosis rates of KG1a cells after treatment with bexarotene and TRAIL in different sequences. The expression of Fas associated death domain-like IL-1 beta converting enzyme inhibitory protein (c-FLIP) was detected by Western blotting. Results There was no significant difference in cell apoptosis rates between TRAIL group and bexarotene group of each concentration (except for bexarotene 2.0 μmol/L) (P > 0.05). The cell apoptosis rates of 300 ng/mL TRAIL in combination with bexarotene group and 2.0 μmol/L bexaroten in combination with TRAIL group were significantly higher than those in TRAIL group and bexarotene group of each corresponding concentration (P <0.01). Sequential analysis revealed that bexarotene could reverse the resistance of KG1a cells to TRAIL (P < 0.001). Compared with single use of 2.0 μmol/L bexarotene or 300 ng/mL TRAIL, combination use could significantly down-regulated the expression of c-FLIP (P < 0.05). Conclusion Bexarotene can significantly enhance the apoptosis of KG1a cells induced by TRAIL, which may be attributed to the down-regulation of c-FLIP expression.

Objective To explore the therapeutic effect of Cefoselis sulfate and Cefepime on the stroke-associated pneumonia in elderly patients.Methods 96 cases of stroke-associated pneumonia with positive pathogen were divided into two groups treated with Cefoselis versus Cefepime respectively.Body temperature,leukocyte count,arterial partial oxygen pressure,the serum level of C-reactive protein (CRP) and bacterial clearance rate were observed before and after the treatment.The cefoselis sulfate group (n =48) or the cefepime group (n =48) was treated with 2.0 g Cefoselis sulfate or 2.0 g Cefepime every 12 hours for 7 to 10 days.Results In post-treatment versus pretreatment,both two groups showed that clinical symptoms and inflammatory indicators were improved,and the patient's body temperature,white blood cell count and neutrophil cell count,hs-CRP and arterial partial oxygen pressure were significantly decreased (all P＜0.05).Arterial partial oxygen pressure was better in post-versus pre-treatment (P＜0.05).The total effective rate was 87.5％ in Cefoselis sulfate group and 83.3％ in cefepime group (P ＞ 0.05).The bacterial clearance rate was higher (89.6％) in Cefoselis sulfate groups than in cefepime groups (67.9％) (P＜0.05).In posttreatments of Cefoselis sulfate groups versus Cefepime groups,white blood cell count and neutrophil cell count,hs-CRP and arterial partial oxygen pressure showed no statistically significant differences (all P ＞ 0.05).Conclusions Compared with Cefepime,Cefoselis has the similar anti-infection efficacy in the treatment of stroke-associated pneumonia.While,the bacterial clearance rate and the total effective rate are better in cefoselis group than in Cefepime group.

Objective To investigate the feasibility and safety of endoscopic treatment of ureteral calculi acute obstruction with urinary extravasation. Methods 56 patients with ureteral calculi acute obstruction and urinary extravasation were randomly divided into two groups:the treatment group and the control group,28 cases in each group. Patients in the treatment group were given URSL or percutaneous nephrostomy drainage, and the secondary fistula was given URSL stone clearance treatment. Patients in control group were given traditional ureterolithotomy treatment. The stone clearance rate, the average recovery time after surgery, postoperative wound infection rate and the abnormal rate of postoperative albumin were observed in two groups. Results In the treatment group,28 patients had no residual stones with mean postoperative recovery time of (5.2 1.3) days,postoperative fever was found in 3 cases,obvious abnormal postoperative albumin in 3 cases. In the control group,residual stones were found in 3 cases,the average recovery time after surgery was (7.9 2.6) days,postoperative fever was found in 10 cases, and obvious abnormal postoperative albumin in 11 cases. There were statistically significant differences in stone clearance rate, the average recovery time after surgery, postoperative wound infection rate and the abnormal rate of postoperative albumin between two groups (P<0.05) . Conclusion Endoscopic treatment of ureteral calculi acute obstruction and urinary extravasation has advantages including better efficacy, less trauma, less complications and quicker recovery.

Objective To investigate the clinical efficacy of the urethra URSL combined with micro-puncture and drainage treatment for pediatric calculus of lower urinary tract. Methods From January 2003 to January 2013, 66 cases with pediatric urinary tract calculi in our hospital were randomly equally divided into experimental group and control group. The experimental group was treated with transurethral bladder micro URSL combined puncture and drainage treatment, and the control group was given a simple transurethral URSL method of treatment. The operative time, postoperative urine turned clear time,pulling stone clearance after catheter time,postoperative hospital stay and the incidence of postoperative urethral stricture were observed and recorded. In addition, these data were compared between the two groups. Results The operations of two groups have successfully completed. The mean operative time, postoperative urine turned clear time, pull out the catheter stone clearance after time and postoperative hospital stay of control group was 30.2±2.45 minutes,2.5±0.5 days,2.1±0.8 days and 4.0±0. 5 days, respectively. Patients were followed up 1 year after operation, and 1 case of urethral stricture occurred. However, the mean operative time, postoperative urine turned clear time, pull out the catheter stone clearance after time and postoperative hospital stay of the test group was 20.36±2.35 minutes,1.5±0.7 days,1.1±0.25 days and 3.1±0.3 days,respectively,with no urethral stricture case occurred. There were significant differences between the two groups ( <0.05) . Conclusion Transurethral bladder URSL micro puncture and drainage combined with transurethral ureteroscopy lithotripsy treatment for children with lower urinary tract calculi has better efficacy and safety. It could shorter operative time, postoperative urine turned clear time, the gravel discharge time and average hospitalization time, reduce the incidence of postoperative secondary urethral stricture.

IgA nephropathy (IgAN) is recognized as the most common immune complex related to the cause of glomerulonephritis worldwide. The disease is characterized by the predominant deposition of underglycosylated IgA1 in the mesangial area of glomeruli. Dysregulation of the immune system plays an important role in the pathogenesis of IgAN. Abnormalities restricted to T lymphocytes and/or B lymphocytes activation could be a critical causative factor in the over-production of underglycosylated IgA1.
Antigen-Antibody Complex ; B-Lymphocytes ; Glomerular Mesangium ; Glomerulonephritis, IGA ; pathology ; Humans ; Immunoglobulin A ; chemistry ; T-Lymphocytes

OBJECTIVE: To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants. RESULTS: Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c.3096dup (p.Pro1033Thrfs*2) and c.3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene. CONCLUSION Diagnosis of Bainbridge Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.
Child ; China ; Developmental Disabilities/genetics* ; Humans ; Language ; Mutation ; Pedigree ; Phenotype ; Transcription Factors/genetics*

OBJECTIVE: To analyze the clinical features and genetic variants of two patients from a pedigree affected with Smith-Lemli-Opitz syndrome and explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the pedigree were collected. Whole exome sequencing was carried out to identify the potential variants. Suspected variants were verified by Sanger sequencing of the family members. RESULTS: The proband and her sister both presented with feeding difficulty, facial dysmorphism, seizures, and mental and speech retardation. The third child of this family presented with feeding difficulty, poor weight gain and severe malnutrition after birth. He had died of unknown cause at 6 months without genetic testing. The fourth child was a healthy boy. Genetic testing showed that both the proband and her sister have carried c.127G>T (p.Val43Phe) and c.820_825del (p.Asn274_Val275del) compound heterozygous variants of the DHCR7 gene (NM_001360.2), but the fourth child carried neither of the variants. The two variants were unreported in the literature and disease-related databases, and were not included in the 1000G and gnomAD databases. The c.820_825del variant may affect the sterol-sensitive region of the DHCR7 protein, which can lead to deletion of two amino acids at positions 247 and 275, causing truncation of the DHCR7 protein. It is speculated that this may affect the stability of protein's spatial conformation, thereby decrease the activity of the enzyme. The c.127G>T variant may affect the first transmembrane region of the protein, which is involved in the transmembrane transport of proteins. Multiple software predicted it to be harmful. Conservation analysis suggested that the three amino acids all locate in a highly conserved region of the protein. In consideration of the clinical phenotype, family history and result of genetic testing, we speculated that both patients had Smith-Lemli-Opitz syndrome due to variants of the DHCR7 gene. CONCLUSION This pedigree has enriched the phenotypic and genotypic data of Smith-Lemli-Opitz syndrome, which clarified the genetic etiology of the patients and provided a basis for genetic counseling of this pedigree.
China ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; Oxidoreductases Acting on CH-CH Group Donors/genetics* ; Pedigree ; Smith-Lemli-Opitz Syndrome/genetics*