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.

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.

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.

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.

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

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

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.

Purpose To investigate the clinicopathlogic characteristic, diagnosis and histogenesis of pancreatic solid-pseudopapillary tumors ( SPPT) . Methods Combined with relevant literature, the clinical history, histopathological features and immunohistochemi-cal characteristics were analyzed in 11 cases of SPPT. Results There were 10 female patients and only 1 male in total 11 cases, aged from1 7 to 60 years (mean 33). The sizes of tumors were from 3. 2 to 10. 0 cm. Histologically, they were composed of papillary and microcysticsolid structures. Pseudopapillary with a fibrovascular core was remarkable. Immunohistochemically, the tumors expressed EMA (1/11), vimentin (10/11), NSE (11/11), Syn (7/11), CgA (1/11), CD56 (11/11), CD10 (11/11), PR (9/11), CD99 (9/11),α-AT (11/11),β-catenin (11/11), E-cadherin (11/11), Cyclin D1 (11/11), c-Myc (11/11). 6 patients were followed up for a period of 20 to 112 months, and they were all alive and had no recurrence and metastasis. Conclusions SPPT is a tumor with low malignancy of the pancreas that most frequently affect young females. SPPT may be derived from multipotent stem cells and closely related withβ-catenin signaling pathway. Pathological morphology and immunohistochemistry are very important to the diag-nosis and differential diagnosis of SPPT.

Objective To analyze the incidence of the disease, clinical features, diagnostic criteria, therapy and prognosis of Penicilliosis marneffei found in Guangdong province. Methods To analyze patients data, clinical features, laboratory findings, response to therapy, and prognosis of 15 cases Penicilliosis marneffei found in Guangdong province of China. Results The male was predominant compared with the female (ratio 2 to 1) and without occupational preference, but the patients with AIDS as underlying disease were mostly drivers and the unemployed. Thirteen patients were immunocompromised such as AIDS, connective tissue disease, and kidney transplant. Clinical features showed different manifestations, such as high fever, loss of weight, skin lesion, and respiratory system symptoms. Biopsy of the skin lesion showed PAS stain positive yeast-like, or sausage-form spores. Four patients were localized infection of the skin, eleven patients were systemic infection. Nine patients died, five recovered, 1 patient refused to be treated. Fifteen isolates from different anatomic sites of the patients were identified to be Penicillium marneffei by morphology and dimorphism in the culture, and eleven isolates among these 15 isolates were also confirmed by DNA sequence analysis. Conclusion The incidence rate of Penicilliosis marneffei become higher in the recent years and many patients were accompanied with AIDS in Guangdong province. Attention should be paid to the disease.