Prader-Willi syndrome is a rare genetic disorder characterized by hypotonia,poor feeding in infancy,hyperphagia with evolving obesity,hypogonadism,decreased adult height,and cognitive and behavioral disabilities.Recombinant human growth hormone (rhGH) has been used in treating Prader-Willi syndrome,and it has achieved good results.Several aspects still need to be concerned,including evaluation before rhGH treatment,age at treatment initiation,dosing,monitoring of potential side effects,tolerability,endpoint,response evaluation,use of adjunct therapies,and issues of consent.

Objective To investigate the role of cell mediated immunity in HBV infection.Methods tive responses of peripheral blood mononuclear cell(PBMC)to hepatitis B virus antigen HBcAg,HBehg and HBsAg were studied in 20 patients with acute hepatitis B and 23 patients with chronic hepatitis B as well as 20 heath normal donrors.Results Patients with acute hepatitis B showed stronger proliferative responses of PBMC to HBV antigen than patients with chronic hepatitis B as wdl as normal donors.The responses to HBcAg and HBeAg were stronger than that to HBsAg in both acute and chronic group.It was also found that cellular pro|ifertive response,which showed no correlation with ALT level,was significantly increased in the patients with HBV DNA+or/and HBeAg+.Conclusion The results indicate that cellular immune responses to HBV antigens exist in peripheral blood of patients with hepatitis B and potentially play an essential role not only in eliminating virus but also in the pathogenesis of hepatitis B.

OBJECTIVE To know the risk factors about lung infection in patients after tracheal intubation general anesthesia and take control measures.METHODS All the patients with tracheal intubation general anesthesia from Jan to Dec in 2007 were investigated retrospectively.RESULTS Among 2914 operation cases,471 cases were of tracheal intubation general anesthesia and 95 cases were infected(20.17%).The infection rate was 5.38%(24 hours).Sputum culture: G-bacteria accounted for 57.65%,G+ bacteria 28.83%,fungi(13.52%).CONCLUSIONS The infection rate increase with longer intubation time.Mechanical ventilation is a risk factor of lung infection.The measures to control infection include shortening intubation hours,reducing mechanical ventilation and strictly sterilization and isolation.

Patients on Porcelain-fused-to-metal restorations of vital teeth are increasingly year by year, this article mainly discusses the psychological characteristics of adult on porcelain-fused-to-metal restorations of vital teeth on the view of medical ethics.It is helpful to lighten patients’burden and complete treatment successfully by improving the qualities of dentists and giving patients psychological guidance.

Objective To study the course of development of aneurysm of abdominal aorta (AAA) with nonsurgical treatment in senile patients. Methods 37 subjects were included in the study, and they were divided into 3 groups according to the size of aneurysm observed at the first visit. The diameter of aneurysm was measured, and the measurement was repeated at periodic follow up. The yearly increase of the diameter was calculated and analyzed. Results For the 37 patients, the AAA mean diameter was 4.68cm at the first visit. The period of follow-up was 0.5 to 11 years, with a mean of 6.1 years. The average yearly increase in tumor diameter was 0.47cm/year. 14 patients with aneurysm diameter of 6.0cm had an average increase of 0.67cm/year. 5 patients died during the follow-up period, 2 of them died of rupture of the aneurysm, the diameter of which was 8.35cm and 8.91cm, respectively. Endoaneurysmorrhaphy with stent was performed in 7 patients. Conclusion The size of AAA in the senile patients increased slowly if the aneurysm diameter is 6.0 cm, the tumor size might increase quickly, and active intervention is recommended.

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the lack of expression of genes associated with the 15q11.2-q13 region of the paternal chromosome.There are three main types of genetic mechanisms, deletion of the paternal critical region, maternal uniparental disomy and imprinting center defect.Genetic counseling can be carried out based on different genetic mechanisms of PWS, both re-fertility assessments and prenatal diagnoses were performed on couples whose children have already had the disease.The pathogeny and mechanism of PWS are complex.The rapid development of molecular genetics and related research have provided a basis for further understanding of this disease.In this paper, the advances in the genetics of PWS were reviewed.

Objective To investigate the role of mismatch repair gene hMLH1 in pancreatic carcinoma and its clinicopathological significance.Methods hMLH1 was extracted from 60 cases of pancreatic carcinoma tissues and 60 cases of normol pancreatic tissues.hMLH1 expression in pancreatic carcinoma and normal tissues was detected by SP immunohistochemical staining.Results The strong,weak and loss expression of hMLH1 in pancreatic carcinoma tissues and normal pancreatic tissues was 0 vs 83.33％ (50/60),31.7％ (19/60)vs 16.67％ (10/60),and 68.3％ (41/60) vs 0 respectively.The protein expression of hMLH1 was not related to patient's age,tumor location,or pathological types (P ＞ 0.05),but it was related to lymph node metastasis (x2 =8.579,P =0.004),clinical stage (x2 =9.586,P =0.002) and pathological differentiation (x2 =20.372,P =0.001).Conclusion The loss expression of hMLH1 has a correlation with pancreatic carcinogenesis,differentiation degree,and disease progression.

Objective To explore the immune characteristic of a patient with hypogammaglobulinaemia and low natural killer(NK)cell numbers. Methods Case histories were analyzed repeatedly to grasp important characteristics of the disease. A routine blood examination and peripheral blood immunological detection was done. Complete neutrophil function test,lymphocyte proliferation ability and cytokine profile were evaluated. Results A 3-year-old boy was referred to the hospital because of fever and abdominal pain as well as partial intestinal obstruction. Laboratory examination revealed low immunoglobulin,reduced absolute numbers of B and NK cells and deficient B cell function of lower IFN-γ and IL-12 production. The patient also had mesenteric lymphadenopathy and a caecal mass with histology suggestive of ileocecal junctional tuberculosis. The patient was infected with cytomegalovirus(CMV)and fungus,which are not common in simple antibody deficiencies. The patient was followed for four years and during this period the patient had recurrent periodontitis resulting in the loss of one tooth. Conclusions Although the precise mechanism of the defect is unclear,we speculate that the case may cast new light on primary immunodeficiencies predominantly with antibody deficiency.(J Clin Pediatr,2011,29(7):601-608)

Objective To evaluate the clinical value of MSCT in the diagnosis of unexplained aseites.Methods 113 patients with unexplained ascites were retrospectively reviewed by CT、clinical data and continous observation.Results Large ascites in 50 cases(44.3%),moderate amount aseites in 10 cases(8.8%),small ascites in 53 cases(46.9%);Parietal peritoneum changed in 51 cases(45.1%);Mesentery changed in 44 cases(38.9%);Grerter omentum changed in 20 eases(17.7%);Enlargement of lymph nodes in 67 cases(59.3%).Conclusion Malignant tumor was the most common cause of unexplained ascites.MSCT could help in identifying tumors and the tumor lesion,forecast malignant ascites,and had great value in etiology and diagnosis of ascites.

Objective To describe the clinical and imaging manifestations of patients with synovitis acne pustulosis hyperostosis osteomyelitis (SAPHO) syndrome,and to analyze the diagnostic importance of different clinical and imaging manifestations for SAPHO syndrome. Methods Seventeen patients (7 males and 10 females) with SAPHO syndrome were recruited in this study.Age ranged from 36 to 67 years with a mean age of (48 ± 8) years. All patients fulfilled the diagnostic criteria of Benhamou. Serum HLA B27 antigen records were reviewed for all patients. Imaging data of the abnormal bone sites were collected by conventional radiograph in all patients,CT in 13 patients as well as MR in 3 patients.Average time to take for a definite diagnosis of the syndrome was 3.7 years (ranged from O.5 to 13 years).Results Serum HLA B27 antigen was positive in all patients. Both skin and bone abnornalities were found in all patients.Ten patients had skin palmoplantar pustulosis and two patients had acne. Involving sites of bone and joints include sacroiliac joints,anterior chest and limbs.Sacroiliac joints were asymmetrically involved with imaging features in all patients.Eight patients exhibited anterior chest wall involvement. Five patients had osteomyelitis at limbs. For all images of 17 patients,CT was superior to conventional radiography in detecting abnormal changes of bone erosion and soft tissue swelling.MR imaging was able to depict edema changes that was not detectable by CT and radiography.Conclusion SAPHO syndrome is a rare disease,but for patients with skin and bone-joint abnormalities,especially with skin palmoplantar pustulosis,acne as well as with imaging features at the sacroiliac joint and anterior chest wall,SAPHO syndrome should be taken into a diagnostic consideration.