Hereditary multiple exostoses (HME) is an autosomal dominant genetic disease characterized by multiple benign cartilage-capped tumors primarily at the juxta-epiphyseal region of the long bone or on the lfat bones. Because the tumor can interfere with normal epiphysis, it causes bone deformities. The clinical features include short stature, the mechanical axis deviation, and function impairment. Recent studies showed that EXT gene mutation was associated with HEM. The EXT gene was involved in the biosynthesis of heparin sulfate. The gene mutations resulted in abnormal chondrocyte differentiation. This paper reviews the research progress in clinical manifestation, pathogenesis, biochemistry, the genotype-phenotype correlations, and treatment in HME.

As the techruque of molecular biology developed, the research of aplastic anemia turns to the cytogenetical level. Scientists focused on irwestigating the relationship between the mutation of gene or chromosome and the curative effect of aplastic anemia.The results show that abnormality of particular chrromosome or gene will cause different outcome . On the other hand, the first line therapy of aplastic anemia is still IST or HSCT according to the different situation.The antibody special for T cell is still in studying, and the effect shows well .Through the typing diagnosis consummated, the treating method developed, the survival rate of the patient with apLastic anemia will be advanced.

Objective To investigate the attitude of medical students towards standardized resident training in Shanghai and to provide references for policy adjustment.Methods Self-made questionnaire was used to investigate the attitude of 267 clinical medical students towards standardized resident training in Shanghai.Reference reviewing and expert consultation were also performed.Results Nearly eighty percent of students believed that they had basic knowledge of the training.Two thirds of students hold objective attitude towards the policy.Conclusions Income and pressure in finding jobs are the main reasons why students object the policy.Standardized resident training program need to improve in aspects of advertisement,incoming,quality of teaching staff,connection between medical education and training.

Objective To investigate the organ function survival and late effects and secondary malignancy of childhood neuroblastoma (NB) with high intensity comprehensive treatment.Methods A total of 23 children with NB who received comprehensive treatment in Shanghai Children's Medical Center from December 1998 to October 2010 were enrolled.All tests were formulated according to the Children's Oncology Group (COG)'s guidelines with the approval of parents.The late side effects were graded by CTCAE v3.0,and hearing loss related to platinum was graded by Brock and Chang.Results The median follow-up was 96 (65-170) months.All the patients had at least one late side effect.The occurrence rate of 1-2 adverse effects was 100％,and 17.4％ (4/23 cases) of patients had grade 3-4 adverse effects.90.5％ of children (19/21 cases)developed hearing loss on both sides.Eleven children (52.4％,11/21 cases) developed dental abnormities,comprising microdontia,missing teeth,root stunting and enamel hypoplasia.9.5％ of children (2/12 cases) had scoliosis.42.8％ of children (9/12 cases) developed hypogonadism with the approval of parents or delayed growth.47.4％ of children (9/19 cases) had abnormal respiratory function.36.8％ of children (7/19 cases)had abnormal cardiac function.33.4％ of children (7/21 cases)developed renal damage.23.8 ％ of children (5/21 cases) had abnormal liver function.66.7％ of children (14/21 cases) had low level of cortisol,but adrenocorticotrophic hormone was normal.All children had normal function of thyroid.Three children developed secondary malignancy:leukemia,malignant fibroma and liver tumor.Conclusions The incidence of long-term adverse reactions of patients with neuroblastoma treated with high intensity comprehensive treatment is very high and the patients may have adverse effects,like hearing loss,dental abnormality,cardiopulmonary function abnormality,musculoskeletal problems and secondary malignancy.The upmost importance is to establish long-term follow-up program to detect the life quality of children and amend current therapeutic schemes improve life quality.

Objective To analyze the clinical characteristics and prognosis of 4 rare types of non -Hodgkin lymphoma(NHL)in children,and to discuss the progress in treatment.Methods Clinical data of 1 4 patients with rare types of NHL at Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine between January 2004 and December 201 4 were retrospectively analyzed,and their clinical features,treatment and prognosis were dis-cussed.Results Fourteen cases were reported including 6 subcutaneous panniculitis -like T -cell lymphoma (SPTCL),3 hydroa vacciniforme -like cutaneous lymphoma(HVLL),2 pediatric follicular lymphoma(PFL)and 3 ex-tranodal NK/T -cell lymphoma,and nasal type(ENKTL).Ten patients (71 .4%)primarily presented with skin lesions and underwent a long course of illness before they were finally diagnosed (the median was 1 0 months),71 .4%(1 0 /1 4 cases)of them associated with fever and 50.0%(7 /1 4 cases)with liver and spleen enlargement,and no evidence of central nervous system (CNS)and bone marrow (BM)involvement was observed,while 28.6% patients (4 /1 4 cases) had more than two lines′abnormalities in peripheral blood examination.Since there were no standard treatment guide-lines,most patients received CHOP (Cyclophosphamide +Adriamycin +Vincristine +Prednisone)and /or mature B -cell NHL -like therapy,and 50.0%(7 /1 4 cases)of them received interferon therapy in addition,while 1 patient re-ceived allogeneic hematopoietic stem cell transplantation after recurrence.The complete remission was achieved in 71 .4%(10 /14 cases)of all the patients.Two of them died,3 lost follow -up,and 1 relapsed.The 3 -year overall survi-val and event free survival rates were 0.84 and 0.57,respectively,after a median follow -up of 26 months (range 12 -64 months).Conclusions Pediatric rare types of NHL show atypical clinical manifestation,low incidence of CNS /BMinfil-tration and long course.It is hard to make pathological diagnosis and differentiation.It is also inappropriate to apply the commonly used staging system to these rare types of NHL.No standard treatment has been found by now.SPTCL,HVLL and PFL have relatively good outcomes when treated with mature B -cell NHL -type therapy plus interferon therapy.

Objective To investigate the incidence of the ETV6/RUNX1 fusion gene among Chinese pediatric patients with B-ALL and its effect on the prognosis. Methods A total of 723 patients with B-ALL from January 1, 2007 to December 31, 2014 were enrolled in this study. All patients were detected ETV6/RUNX1 fusion gene by FISH. Clinical data and ETV6/RUNX1 were combined to analyze the clinical prognosis. Results Among the 723 patients, 151 were with ETV6/RUNX1 positive B-ALL, accounting for approximately 20.89%(151/723) of B-precursor cases;91 patients were with recurrence, including 10 patients with ETV6/RUNX1 positive B-ALL, and the recurrence rate of ETV6/RUNX1 positive B-ALL was 10.99%(10/91). Among 10 recurrent patients with ETV6/RUNX1 positive B-ALL, 9 patients relapsed more than 300 days later after diagnosis, while the recurrence times among the patients with ETV6/RUNX1 negative was very different. Although the recurrence times between the two groups showed no signiifcant difference (P?=?0.09), the recurrence times of ETV6/RUNX1 positive patients were mainly found at the end of clinical chemotherapy, while the recurrence time of ETV6/RUNX1 negative patients were mainly at maintaining chemotherapy period, there was a signiifcant difference between the distribution of recurrence time (P?

Objective To investigate the clinical manifestations of the febrile neutropenia cancer children,explore the relationship between the clinical data and sepsis.Methods A prospective observation study was employed,and 66 cancer children complicated with febrile and neutropenia after chemotherapy were enrolled.Sixty-six cases were divided into two groups:septic group ( n =26 ) and non-septic group ( n =40).Clinical and laboratory data were collected and compared.Results Body temperature,neutropenia duration,absolute neutrophic count ( ANC ),C-reactive protein ( CRP ),procalcitonin (PCT) and culture positive rate showed statistically differences between the septic and non-septic groups ( P ＜ 0.05 ).Body temperature ＞40 ℃,ANC ＜ 0.1 × 109/L,increases of serum CRP and PCT levels and positive culture were correlated with sepsis.Body temperature ＜ 39 ℃,neutropenia duration ＜ 5 ds,ANC ＞ 0.5 × 109/L were less correlated with sepsis.Conclusion High initial temperature,long duration of neutropenia,severely reduced ANC,increases of CRP and PCT,and culture-positive are correlated with sepsis in cancer children.

Objective To assess the diagnostic potential of circulating galactomannan (GM),(1,3)-β-D-glucan (BG), and a combination of both biomarkers among high-risk pediatric patients.Methods Circulating GM antigen was detected by ELISA kits (Platelia~(TM) Aspergillus) and BG antigen by a turbidimetric kinetic method (GKT-5M Set Kinetic Fungus Detection Kit).Positive tests were defined by two consecutive values of GM index ≥0.5 or by a single value ≥0.8, and by BG detection ≥ 10 pg/ml.Results A total of 130 patients were enrolled.Two was identified with proven IFI, twenty probable IFI.Sensitivity, specificity were 81.8%, 82.4% for plasma BG detection, respectively; 75.0%, 94.4% for GM detection, respectively; 50.0%, 96.3% for combined GM and BG detection, respectively.Conclusions Both circulating GM and BG detections are available for most of the common pathogens and demonstrated desirable sensitivity and specificity among pediatric high-risk population.Both assays can be used as prospective screening tools.Combination of detections of both biomarkers would improve specificity for IA diagnosis.

Objectives To evaluate pediatric neck masses with magnetic resonance imaging (MRI). Methods In this retrospective study, 140 children with neck masses underwent MRI were collected from May 2006 to December 2013. Of them 34 cases went through pathological examinations. The results of MRI diagnosis and pathology were compared in 34 cases. Results In 140 children with neck masses diagnosed by MRI, 103 (73.6%) cases were benign lesions, including 62 vascular malformations, 30 hemangiomas, then cysts, hamartoma, infectious lumps etc., 29 (20.7%) were malignant tumors, including 22 lymphomas, 3 rhabdomyosarcomas, 3 Langerhans cell histiocytosis, 1 neuroblastoma, and 8 (5.7%) cases were undeter-mined masses. Four in 103 cases with benign lesions were performed by pathological examination and all had been con-firmed. Tewenty-five in 29 cases with malignant tumors were performed by pathological examination and 22 cases had been confirmed. Conclusion MRI can help to diagnose the pediatric neck masses and to guide the treatment and follow-up.

Objective To evaluate the outcomes of children with stage Ⅳ malignant extracranial germ cell tumors. Methods Twenty-five patients were enrolled in the retrospective analysis. Event-free survival (EFS) and overall survival (OS) rates were estimated by Kaplan-Meier method with SPSS 13.0. Results Of the 25 children, there were 13 males and 12 females. The mean age at diagnosis was 2 years old (ranged 1 to 11). Five patients receiving chemotherapy in another hospital before (n=1), or giving up treatment after confirmed diagnosis (n=1), or giving up effective treatment after received less than 2 cycles (n=3) were excluded from this analysis. Of the 20 patients, 90.0% (18/20) achieved complete remission and 5.0% (1/20) achieved partial remission after treatment. The 5-year EFS rate and 5-year OS rate were 70.0%±10.2% and 82.4%±9.2% respectively. There was no death occurred due to complications. Conclusions The effect of this treatment program is positive. The cumulative dose of the drugs is not high, compared with other schemes such as PEB, but there are more drugs involved. Whether these drugs may cause long-term adverse reactions needs further research.