Primary immunodeficiency diseases (PID) are a group of disorders due to monogenic mutations which result in increased susceptibility to various infections,autoimmunity and malignances.PID is thus considered as an excellent model for human immunology research.In recent years,high throughput sequencing (HTS) gradually comes into clinical uses and represents a revolutionary technique for screening,diagnosis of PID and discovery of new causative genes for emerging PID.Here this article review the international experience of identifying new PID entities by using whole exome sequencing and clinical uses of targeted sequencing to screen and diagnosis PID.

Child ; China ; Humans ; Immunologic Deficiency Syndromes ; therapy ; Pediatrics

Objective To compare the efficacy and safety of urokinase and batroxobin in the treatment of acute cerebral infarction(ACI).Methods According to the digital table,88 patients with ACI were randomly divided into two groups.The observation group (44 cases) was given thrombolytic therapy,the control group (44 cases) was given alteplase treatment.The treatment effects and safety were compared between the two groups.Results The NIHSS scores before treatment,24h,1 week and 2 weeks after thrombolysis had no statistically significant differences between the two groups (all P ＞ 0.05).After treatment for 1 month,29 cases (65.9 ％) of nerve function good progno sis in the observation group,28 cases(63.6％) in the control group,there was no significant difference between the two groups(x2 =0.049,P =0.958).In the control group,1 case of cerebral hemorrhage,and occlusion in 1 case,1 case of other adverse reactions (hematuria),the incidence rate of complications and adverse reaction was 6.82％ (3/44).In the observation group,2 cases of hemorrhage (including 1 case of cerebral hemorrhage and 1 case of gastrointestinal bleeding),1 case of reperfusion injury and restenosis,2 cases of other adverse reactions (including hematuria and allergic rash,each in 1 case),the incidence rate of complications and adverse reaction was 13.64％ (6/44).There was no statistically significant difference in the incidence rate of complications and adverse reaction between the two groups (x2 =0.495,P =0.597).Conclusion Urokinase and alteplase in the treatment of ACI have considerable effect in improving the symptoms of patients with neurologic impairment,alteplase is slightly in terms of security advantages,but the price is relatively expensive,urokinase in the treatment of ACI in primary hospital is still desirable.

Education of medical graduate student for master degree plays an increasingly important role in cultivation of health care resources.The educational system for graduate student in medicine in China remains to be improved.to meet the goal of producing a large number of qualified physicians.Personality,manner,innovation ability,clinical training should be emphasized in the whole process of training.

Total 117 persons including undergraduate students,graduate students and residents major in pediatrics were surveyed for their views to current medical education system.The results showed that large proportion of people have not been satisfied with current medical education in terms of cultural branch of education,clinical skill training,medical English teaching and innovative cultivation.Continuous improvements should be made in all these aspects to ensure long term education outcome.

Objective: Palivizumab(PZ) is the only monoclonal antibody presently available for use in humans against an infectious disease.RSV selected in cell culture for growth in the presence of PZ develops F gene mutations and is resistant to PZ prophylaxis in cotton rats.Here,we evaluated the potential for PZ resistant RSV to arise in vivo.Methods: Cotton rats were immunosuppressed with cyclophosphamide(CY),administered PZ,and inoculated intranasally with RSV.Lungs were harvested 12 weeks after RSV infection,RT-PCR amplified F gene fragments were cloned into plasmids,and the nucleotide sequences of the cloned cDNAs were determined.Results: Three of the five animals had mixed populations of lung viruses,and over 50% of the clones from the 3 animals revealed F gene mutations associated with resistance to PZ.A virus completely resistant to PZ neutralization was recovered from the lung homogenate of a rat that had received PZ.Conclusion: Prolonged pulmonary replication of RSV in the presence of PZ is followed by the appearance of viruses resistant to PZ.The potential for the development of resistance is a consideration as antibody is used prophylactically against RSV and as passively administered antibody is under development for other infections,including emerging viruses and agents of biodefense.

Objective To evaluate whether the strict control of serum glucose can improve the prognosis for cerebral metabolism and nervous system of these patients with severe head injury.Methods A total of 46 severe head injury patients were randomly assigned to receive intensive insulin therapy or routine therapy,titrating serum glucose levels at 4-6 mmol/L and less than 11 mmol/L respectively.All patients were treated according to neurosurgical intensive care routine including monitoring intracranial pressure(ICP).Lactate and pH value of cerebrospinal fluid(CSF) were tested continually in a week after admission,while Glasgow Coma Scale(GCS) scores were appealed for evaluating neurological function in the two groups.Results In comparison with control group,lactate concentrations and intracranial pressure significantly decreased after insulin treatment as well as the marked elevation of GCS scores.There was no difference in pH values of CSF between the two groups.Intensive insulin therapy also reduced the ICU days and hospital stay.Conclusion As a valuable protocol for glucose management,intensive insulin therapy ameliorates the accumulation of lactate in the ischemic brain tissue after injury,depress ICP during oedema cresttime and improve neurological outcomes.

Objective To explore the clinical features and long-term prognosis of juvenile idiopathic arthritis (JIA)in children, as well as particular quality of life associated with the clinical features and therapeutic options. Methods Seventy patients from August 1997 to August 2007 were retrospectively reviewed and survey was conducted using a questionnaire indicating quality of life(CHAQ questionnaires and CHQ questionnaire, adjusted appropriately) either by phone,letter or out-patient follow-up approach.The manner of correlation and logistic regression was used to analyze quality of life associated with the clinical features and therapeutic options. Results (l)The majority (74.3%) of patients were diagnosed as systemic onset JIA. The Cronbach Alpha coefficient of questionnaire is 0.9599, with a higher inernal consistency reliability. The scales validity also had the higher construction. Sixty nine cases with 76.8 percent of the score showed good quality of life. Quality of life in children less than 5 years old was significantly different from those more than 5-year old( P < 0.05). The rank sum test of single-use NSAIDs group and NSAIDs adding other medicine group suggested that the two groups had differences in quality of life( P = 0.026) .The correlation coefficient between the variables of time from onset to formal treatment and quality of life scores was 0.329( P < 0.05), and "walking"as the dependent variable for the regression analysis showed regression coefficient was 0.15( P = 0.016). The variable grip had the significant relationship with the "disease onset to regular treatment, the initial number of joint involvement" respectively. Conclusion Systemic oneset JIA is the most common type of JIA. Most of JIA patients have a good prognosis.The major factors which may cause the decline in the quality of life are age, duration without therapy after the disease onset,and the compliance to medication.To achieve a better prognosis,more aggressive therapy may be needed and individulized.

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Primary immunodeficiency diseases (PIDs) represent a typical group of rare diseases with high mortality and disability with regard to long-term outcome.Saving life and improving quality of life of the patients with PID remain to be the responsibility of the stakeholders from all aspects of the society.As the central player in the long run of PID campaign,pediatric immunologists should play a critical role in providing key epidemiological data in favor of political decision-making and social resource distribution.