Objective To explore the pathogenesis and diagnosis of chronic granulomatous disease. Methods Clinical features and laboratory examination results of a child with chronic granulomatous disease were retrospectively analyzed. Genome DNA was extracted from peripheral blood of the child and his parents. The high-throughput sequencing was performed by Illumina sequencing platform, using the Agilent SureSelect exome capture method. Results The child had recurrent infections along with liver enlargement and dysfunction. The anti-infection and symptomatic treatment were unsatisfactory. Gene sequencing analysis revealed a homozygous point mutation (c.7C?>?T, p.Gln3*) in CYBA gene. His mother had the same heterozygous mutation in this locus, and his father had a large fragment heterozygous deletions. No other candidate gene mutations were identiifed. Conclusions The diagnosis of chronic granulomatous disease is conifrmed in this child. It is caused by CYBA gene mutation.

Hyperhomocysteinemia is an independent risk factor for arterial and venous obstructive vascular di-seases. Raised plasma homocysteine concentrations are caused by genetic and non-genetic factors. The pathogenic mechanism is not clear. It may be associated with endothelium dysfunction, abnormal lipid metabolism, hypertrophy of intima media, increased platelet aggregation and several clotting factors interfered, etc. The metabolism and pathogenic mechanism of homocysteine are reviewed in this article, which provides theoretical foundation for the treatement of hyperhomocysteinemia.

In order to explore the available sero-diagnotic method for surveillance in basically controlled and controlled areas of schistosomiasis japonica, a 3 years longitudinal investigation of children 6~14 years old with COPT in 5 endemic areas was carried out after being basically controlled for 8~16 years. The results showed that the examination of children with COPT is one of the available serodiagnostic methods of schistosomiasis for surveillance. In all five areas the positive rate of children in this age group was less than 3%, and the circumoval precipitin rate among the positive cases was less than 5%. Therefore, it is indicated that the above mentioned two indexes can be used for sero-surveillance of schistosomiasis japonica.

Antineoplastic Agents/therapeutic use* ; Gastrointestinal Stromal Tumors/drug therapy* ; Humans ; Liver ; Liver Neoplasms/drug therapy* ; Lung ; Naphthyridines/therapeutic use* ; Urea/analogs & derivatives*

AIM:To investigate the effects of perfluorocarbon and ligustrazine on lung injury during liver transplantation in pigs with hepatopulmonary syndrome. METHODS:A hepatopulmonary syndrome (HPS) model of pig was established by chronic bile duct ligation. The animals were assigned randomly to 2 groups:(1) Perfluorocarbon in combination with ligustrazine treatment groups (PFCL group):the pigs were treated with intratracheal instillation of perfluorocarbon and ligustrazine; (2) The conventional mechanical ventilation group (MV group):all animals were subjected to mechanical ventilation and orthotopic liver transplantation. After 5 h the lungs were harvested for further analysis. RESULTS:The lung wet to dry weight radio,pulmonary permeation index and leukocyte count in bronchoalveolar lavage fluids (BALF) in PFCL group significantly decreased compared to MV group (P<0.05). Contents of tumor necrosis factor-α (TNF-α) and interferon-γ (IFN-γ) in the lung tissue,plasma and BALF of pigs in PFCL group were significantly lower than those in MV group (P<0.05). Moreover,the activation of NF-κB was inhibited markedly by PFCL. CONCLUSION:Perfluorocarbon in combination with ligustrazine effectively reduces the PMN accumulation in the lungs,inhibits TNF-α and IFN-γ production and protects against lung injury during liver transplantation in pigs with hepatopulmonary syndrome.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Female ; Humans ; Imaging, Three-Dimensional ; Male ; Maxillary Artery ; diagnostic imaging ; Middle Aged ; Pterygopalatine Fossa ; diagnostic imaging ; Tomography, Spiral Computed ; Young Adult

Adult ; Deglutition ; Humans ; Laryngeal Diseases ; Male ; Pharynx

Purpose This paper was to investigate the correlation between in vitro and in situ methods for propafenone transnasal absorption.MethodsUsing excised sheep nasal mucosa permeation test in vitro and rat nasal infusion test in situ. By means of changing the medium pH, drug conoentration, and forming β-cyclodextrin inclusion compound, the permeability coeffident (Pm), mean permeation rate, and permeation fraction were determined in vitro. Under the corresponding conditions the absorption rate oostant(k ) ,mean absorption rate and absorption fraction in situ were also detrmined.ResultsThe linear regression coefficient indicated that,under the various experimental conditions,a good in vitro-in situ correlation could be confirmed.ConclusionsHaving an in vitro-in situ correlation is useful for scientific justifying the different methods for nasal absorption studies.

Objective To investigate the impact of nutritional risk of preoperative patients with different parts of colorectal cancer. Methods 385 cases of surgical patients diagnosed with colorectal cancer were selected in the retrospective study in April 2008 to March 2009, Gastrointestinal Surgery Center of West China Hospital in Sichuan University. Patients were divided into the right colon cancer group, the left colon cancer group, the rectal cancer group, using internationally recognized NRS- 2002 Scale and serum nutrition indicators to assess their preoperative nutrition. Results NRS-2002 score in the right colon cancer group showed higher than the left colon and rectal cancer group, but no statistical difference between the latter two rates; serum concentrations of HGB, TP, ALB, A/G were lower in the right colon cancer group than the other two groups, but the concentrations of ALT, AST, Ca2+, PO43-showed no statistical difference among three groups. Conclusions The proximal colon (right colon cancer) were more susceptible to the risk of preoperative malnutrition, the patients with different parts of colorectal cancer should be given to the corresponding preoperative nutritional assessment and nutritional support.

Objective To investigate the expression and early diagnosis value of CD64 index levels in peripheral blood cells in patients with postoperative traumatic sepsis.Methods A number of 420 trauma patients were enrolled in the study,and they were divided into the postoperative traumatic sepsis group(130 cases)and postoperative general trauma group(290 cases)according to the clinical manifestations. The CD64 levels in peripheral blood were measured by flow cytometry,and the levels of C-reactive protein(CRP)and white blood cell count (WBC)were detected.The diagnostic value of these indexes on postoperative traumatic sepsis were evaluated.Results The CD64 index, CRP and WBC levels in postoperative traumatic sepsis group were significantly higher than postoperative general trauma group(P <0.05). After appropriate treatment,the CD64 index,CRP and WBC levels decreased significantly compared with the preoperative levels(P <0.05). The correlation analysis showed that the CD64 index in peripheral blood and CRP level were positively correlated(r =0.79,P <0.01).How-ever,the CD64 index in peripheral blood and WBC level were of no significant correlation(r =0.028,P >0.05).The ROC curve analysis showed that when CD64 index(7.21)considered as the boundary for early diagnosis of postoperative traumatic sepsis,the sensitivity and spe-cificity of diagnosis for postoperative traumatic sepsis were 85.1% and 87.8%,the area under the ROC curve(AUC)was 0.865(95%CI 0.784 ~0.929),which was significantly better than CRP index.Conclusion The expression of CD64 is higher in patients with postoperative traumatic sepsis,which can be used as an effective indicator for early diagnosis of postoperative traumatic sepsis,and it has an important clin-ical application value.