Objective To analyze the clinical characteristics and treatment outcome of citrin deficiengc in infants. Methods The clinical data of 15 patients with citrin deficiengcy were analyzed retrospectively and the diagnoses were confirmed by gas chromatography-mass spectrometry(GC/MS). Results The patients consisted of 9 male and 6 female infants,whose age of onset ranged from 2 to 10 days excepted 1 case later than one month. The main clinical manifestations were jaundice and swelling liver,laboratory data showed increased total and direct bilirubin,bile acid,alanine aminotransferase,γ-glutamyltransferase,blood ammonia,lactic acid and α-fetoprotein;7 paitients had prolongation of prothrombin time and 9 had dyslipidaemia;G C/MS analysis of urine samples showed elevated galactose ,galactitol and 4 - hydroxyl phenyllactic acid;citrin gene were positive in 6 cases ,cytomegalovirus infections were found in 13 cases. After the therapy of fat-soluble vitamins(A,D and K)and lactose free formula,the jaundice relieved rapidly and dispeared within 2 weeks in all cases. The 6-month follow-up data showed no symptoms in 6 cases. Conclusions The clinical manifestations of citrin deficiengcy are nonspecific,GC/MS and lactose free formula treatment can be used to confirm the diagnosis.

Objective To investigate the clinical characteristics and treatment strategies of primary lactase deficiency in infants.Methods The clinical data of 26 infants with primary lactase deficiency in Shenzhen Chidlren's hospital from October 2009 to February 2011 were analyzed retrospectively and the diagnoses were confirmed by dietary therapy.Results The patients were consisted of 19 males and 7 females,whose ages of onset ranged from 1 to 2 months,persisting 1 to 4 months.Breast feeding,mixed feeding and formula feeding were given in 10 cases,8 cases and 8 cases,respectively.The main clinical manifestations were persistent or chronic diarrhea,with watery and or foamy stools,4 to 8 times per day.Nineteen patients had received antibiotics but without improvement.Lactose free formula and oral probiotics improved the symptoms within 1 week in all 26 cases,but recurrence of symptoms followed reintroduction of dairy foods.Conclusion The clinical manifestations of primary lactase deficiency in infants are persistent or chronic diarrhea.Lactose free formula can be used to confirm the diagnosis and to improve the symptoms.

Objective To construct a RhoC-siRNA expression vector, and study its role on the biological behaviors of hepatoma carcinoma cells. Methods RhoC-siRNA gene was synthesized and cloned into the expression vector pSilencer2.1. The constructed RhoC-siRNA expression vector was stably transfected into hepatoma carcinoma cell line SK-Hep1. The inhibitory effect of RhoC-siRNA on the expression of RhoC in transfected cells was detected by Western blotting. The morphous, growth velocity and the ability of cell adhesion, cell migration, cell invasion before and after transfection was observed. Results Enzyme digestion and DNA sequencing confirmed that the RhoC specific siRNA expression vector was constructed successfully. After transfection, RhoC expression was inhibited by 60%, and no marked difference was observed in cellular morphous and growth curve, while the ability of cell adhesion, cell migration, and cell invasion were markedly decreased. Conclusion The RhoC-siRNA expression vector can effectively suppress RhoC expression in transfected hepatoma carcinoma cells. Although having no effect on the morphous and growth velocity of hepatoma carcinoma cells, it decreases the potentiality of cell invasion and cell metastasis, which may provide a novel applicable strategy for gene therapy on hepatocellular carcinoma.

Objective To study the diagnosis and treatment of protracted bacterial bronchitis (PBB) in children. Methods Children with PBB conifrmed by bronchoscopy were recruited from May 2013 to April 2015 . The clinical data were retrospectively analyzed. Results All 31 cases include 18 boys and 13 girls were recruited. 28/31 were younger than 6 years old. They all complained of wet cough, some of them were reported with wheeze ( 17/31 ) and with ruttle in the lungs ( 16/31 ). White blood cell were in normal range ( 18/31 ) or slightly elevated ( 13/31 ). The C-reactin protein was in normal range ( 28/31 ). Chest X-ray test of 16 cases were normal. Twenty-four cases taken chest computerized tomograph scan, 5 had a sign of tracheobronchial stenosis. The purulent bronchitis without tracheobronchial stenosis were conifrmed by bronchoscopy. Four cases had tracheomalacia. The medians of proportion of neutrophil were 80% in bronchoalveolar lavage lfuid (BALF). The pathogens were identiifed in BALF in 17 cases, 6 with Streptococcus pneumoniae, 6 with Haemophilus parainfluenzae, 3 with Moraxella catarrhalis, 2 with Staphylococcus aureus and 1 with Haemophilus influenzae. The symptoms were improved in all cases and co-amoxiclav was prescribed to most cases when discharged. The course of antibiotics therapy was 2-4 weeks in 23 cases, and more than 4 weeks in 8 cases. Twenty-three ( 23 ) cases were cured but 8 of them relapsed. Another 8 cases were improved but not completely remitted, 7/8 were cured by further treatment for concomitant diseases such as nasosinusitis and allergic rhinitis. Conclusions Children with PBB are typically younger than six years old, and presented with prolonged wet cough and parent-reported wheeze, normal or with ruttle in the lungs. A conifrmed diagnosis was reached by bronchoscopy. The antibiotics therapy were effective, the course should be more than 2-4 weeks, however, relapse were common. When antibiotics therapy does not lead to complete remission, concomitant diseases should be considered.

Objective To investigate the CT and MRI findings of granulomatosis with polyangiitis of the nasal cavity and paranasal sinus. Methods The CT and MRI features of eight patients of granulomatosis with polyangiitis in the nasal cavity and paranasal sinus confirmed by histo-pathology were analyzed retrospectively.CT scanning was performed in all eight patients.Routine MRI scanning was performed in seven patients.Dynamic contrast MRI was performed in three cases.SImax ,SIpeak ,Tpeak and MSI of the time-intensity Curves(TICs)were calculated.Results On CT scanning,bilateral middle turbinate,uncinate process and nasal septum were defected in 8 cases.Medial wall of bilateral maxillary sinus showed destruction and other walls of bilateral maxillary sinus showed sclerosis in 8 cases.The ethmoid labyrinth were involved in 6 cases in which the volume of maxillary sinus reduced.The collapse of nasal dorsum and flat nasal bone occured in 4 cases.Nasopharyngeal soft tissue was thicken in 2 cases.Theorbit was involved in 1 case.The mucosal thickness of all group of sinuses were showed in all 8 cases.On MRI scanning,peripheric mucosal of the lesions showed iso or long T1 and long T2 signal in 7 cases.Dynamic-enhanced MRI showed heterogeneous enhancement.TICs showed flat.But in one to four periods showed a slow rising gradient.SIpre was 1 030, SImax 2 500,SIpeak 2 353,Tpeak 100 s,and MSI 1.28%.Conclusion Granulomatosis with polyangiitis of the nasal cavity and paranasal sinus shows some typical CT and MRI features.To summarize the features is helpful to the diagnosis and therapy of the lesion.

Objective To investigate the Du moxibustion therapy in the treatment of chronic obstructive pulmonary disease (Chronic obstructive pulmonary disease,COPD)at stable phase.Methods 60 cases of lung COPD patients in stable stage who received treatment from January to December 2010 in Taihe Hospital of Traditional Chinese Medicine outpatient were randomly divided into two groups in,according to the case of tail number,with 30 patients in each.The control group was taken oral doxofylline tablets,0.2 g/time,2 time/d and ambroxol hydrochloride,30 mg/time,3 time/d.The treatment group was treated with Du moxibustion two times on the basis of the control group.One year follow-up and pulmonary function and BODE index assessment were performed in each group.Results ① the pulmonary function of the treatment group after the treatment (65.58±7.90) ％ was significantly improved than the same group before the treatment (53.20± 7.37) ％ (P＜0.05),and had significant difference compared with the control group after the treatment (57.53 ± 7.22)％ (P＜0.05).The recurrence rate was significantly different in the treatment group (1.79±0.32) and the control group (2.09±0.38) (P＜0.05).② BMI,MMRC,6MWD,BODE index,shortness of breath,wheezing,anorexia was significantly improved after the treatment in the treatment group [after treatment were (21.98 ± 1.32)kg/m2,(2.09±0.37)％,(350.68±88.70),(3.82±2.18) meters,(0.38±0.27),(0.32±0.25)％,(0.35±0.27) respectively; before treatment were (18.21±2.49)kg/m2,(2.50±0.43)％,(324.88±70.92),(4.66±1.40) meters,(1.49±0.62) ％,(1.42±0.56)％,(1.77±0.35),P＜0.01 respecitively].Compared with the control treatment after the treatment [(18.20 ± 1.79) kg/m2,(2.36 ± 0.64) ％,(320.03 ± 68.53),(4.43 ±1.62) meters,(1.22± 0.71),(1.28±0.67)％,(1.73±0.24) respectively] (P＞0.01),the difference was statistically significant(P＜0.01).Conclusion Du moxibustion therapy was effective in treating chronic obstructive pulmonary diseases in stable phase.

Objective To discuss the clinical and radiological features of congenital absence of the internal carotid artery.Methods Four patients of the congenital absence of the internal carotid artery were reported and the clinical and radiological features were summarized by a review of the literature.Results Four patients were shown subarachnoid hemorrhage ( SAH) , transient ischemic attack ( TIA) , epilepsy and headache, respectively.All of the four patients presented the absence of unilateral or bilateral carotid arteries in cervical computed tomography angiography ( CTA) or magnetic resonance angiography ( MRA).Carotid canal was absent in all the patients in CT base of skull and multiple intracranial vascular dysplasia was shown in all the patients.Basilar or posterior communicating artery was presented as dolichoectasia in 3 patients.There were 2 patients who suffered aneurysm.Conclusions The onset of the congenital absence of the internal carotid artery can be presented in any age.Sudden severe headache as initial symptom caused by SAH is showed more common in children and adolescents.TIA is commonly seen in the elderly.CT shows carotid canals are absent in the base of skull.Unilateral or bilateral carotid arteries are shown absent in CTA or MRA.Multiple intracranial vascular dysplasia is shown in CTA or MRA.Carotid artery CTA has been considered as the optimal imaging method of showing the congenital absence of the internal carotid artery.

Objective To measure the level of diamine oxidase (DAO), and observe the intestinal motor and mucosal barrier injury after acute spinal cord injury (SCI) in rats. Methods A total of 45 Sprague-Dawley rats were randomly divided into SCI group (group A, n=15), sham group (group B, n=15) and control group (group C, n=15). SCI model was established with Allen's strike mode (10 g × 25 mm) by striking T10 spinal segment in rats. One day, three days and seven days after SCI, hind limb motor function was assessed with Basso-Beat-tie-Bresnahan (BBB) Scale in each group, the myoelectric slow wave and ileum smooth muscle contractility were measured in rats, ileum tis-sues were tested with HE staining, and the DAO content of serum was tested with ELISA kit. Results One day, three days and seven days af-ter SCI, the BBB score was significantly lower in group A than in groups B and C (P<0.001). One day, three days after SCI, the frequency and amplitude of both slow wave and contractility were lower in group A than in groups B and C (P<0.05);seven days after SCI, there was no significant difference among three groups (P>0.05). Group A showed ileal mucosal edema, lodging, inflammatory cell infiltration, and submucosal gap increase. The Chiu's score of intestinal mucosal injury was higher in group A than in groups B and C (P<0.05), as well as the serum DAO content one day and three days after SCI (P<0.05), and no significant difference was found in the serum DAO content among three groups seven days after SCI (P>0.05). Conclusion Serum DAO content may respond to the intestinal motor function and mu-cosal injury after acute SCI in rats.

AIM: To investigate the impact of scavenger receptor class A type Ⅰ/Ⅱ (SR-A Ⅰ/Ⅱ) on the lipid metabolism in SR-A Ⅰ/Ⅱ gene deficient mice. METHODS: A probe of 660 bp fragment of SR-A Ⅰ/Ⅱ cDNA digested with PstⅠ and XhoⅠ from plasmid 122 was used to identify whether SR-A Ⅰ/Ⅱ had been knocked out in the tail DNA of the mutant (SR-/-) and control (SR+/+) mice by the method of Southern-blot analysis. The serum levels of triglycerides(TG), cholesterol(CH), low density lipoprotein(LDL), high density lipoprotein (HDL), apolipoprotein (Apo) A and ApoB of the mice fed with normal food and higher lipid food respectively were tested by biochemical method. RESULTS: The serum levels of LDL and body weights of group with SR-A Ⅰ/Ⅱ gene knocked out were higher than that of control group ( P

Objective To detect the immune effect of FbaAmAb2 against the surface protein of group A Straptococcus (GAS),and explore the pathogenesis and therapy of GAS infections.Methods By subclonal and bacterial ELISA,the positive hybridoma cells were screened that can produce better titers of FbaAmAb2 against GAS-surface FbaA protein,and were injected into the peritoneal cavities of BALB/c mice to produce ascites.The collected ascites were performed to dilute,as follows,original ascite,1:2,1:4,1:8,and 1:16 to test tube agglutination.Based on the results,we selected appropriate dilution to passively immunize mice,and then challenged the mice with GAS,evaluating FbaAmAb2 neutralizing ability with GAS in mice by the survival rate of the immunized mice.Whether FbaAmAb2 could inhibit the binding of factor H to GAS was confirmed by the invasive inhibition assay.Results The IgG titer of bacteria solution ELISA is 1:160 and the titer of tube agglutination is 1∶8.The protect rates of FbaAmAb2 on preventing mice with GAS infections are as follows:66.67％ in original ascite and 1:2 diluted groups,and 50％ in 1:4 diluted group.Mice in each experimental group were evoked significantly protective immune responses compared with the PBS control by SPSS analysis.FbaAmAb2 can competitively inhibit factor H binding to the surface proteins FbaA of GAS,which decreased the entry of GAS into the cytoplasm of human epithelial cells through the binding of factor H.Conclusion FbaAmAb2 is promising to be used in emergent prevention or the clinical therapy for GAS infection and it is promising starting points for pharmacologic targeting and further development of new therapeutic agents for GAS.