[Abstract ] Objective Nephroblastoma is one of the solid malignancies with fair prognosis in children .The lungs, liver, and bones are the common organs for distant metastasis of the tumor and important factors influencing the therapeutic effects as well .This study was to investigate the clinical characteristics and prognosis of nephroblastoma with distant metastasis in children . Methods We retrospectively analyzed the clinical characteristics , pathological features , and prognosis of 9 cases of nephroblastoma with distant metastasis treated in Nanjing Children Hospital from September 2011 to May 2015 . Results The patients presented with abdominal masses, distention and pain at preliminary diagnosis and confirmed with nephroblastoma , with pulmonary metastasis in 7 cases, liver metastasis in 1, and lung and liver metastases in the other .All were treated by surgery, radiotherapy, and chemotherapy and followed up for a median time of 34 months.By the end of the follow-up, 1 patient died of recurrence , 1 was undergoing chemotherapy , and the other 7 were being recovered, including complete disappearance of lung metastasis in 4, obvious reduction or calcification of lung metastasis in 2, evident disappearance of liver metastasis in 1, but relapse in none. Conclusion Lung and liver are common sites of nephroblastoma metastasis in children .As for the treatment of the disease , relatively good results can be achieved by radiotherapy , chemotherapy , and reoperation .

Objective Primitive neuroectodermal tumor ( PNET) is a small round cell tumor occurring mostly in children or young adults and categorized into the Ewing sarcoma family of tumors, the purpose of the study was to investigate the clinical features, treatment and prognosis of Children PNET. Methods A retrospective study was performed on clinical data of 13 children with PNET hospitalized in our hospital from March 2010 to Octorber 2014.In order to analyze the clinical effects and prognostic results, statistical analysis was made on their clinical manifestations, CT and ultrasonic results, therapeutic schemes, postoperative pathology and immu-nohistochemical staining results, along with telephone and outpaitient follow-up of average 19 months. Results Of the 13 patients, 4 cases were central nervous system PNET(CNS-PNET) and 9 cases were peripheral PNET(pPNET).The clinical manifestations of the former were headache, vomiting, convolsion, movement disorder or decreased muscle strength, while the latter mainly showed mas-ses and abdominal distention.3 cases with metastasis to lung, lymph nodes and bones respectively showed masses on surface or in cavi-ty in imaging.Homer-Wright pseudorosette textures were found in 12 patients.Immunohistochemical results showed 11 cases with CD99(+), 9 cases with VIM(+) and 8 cases Syn( +).Among 11 patients underwent chemotherapy, 2 cases were lost to follow-up, 7 cases were in stable condition without occurrence and the other 2 cases recurred 4-6 months after chemotherapy.3 of 4 cases with CNS-PNET survived with the sequelae of decreased muscle strength, convolsion and movement disorder.1 case with CNS-PNET and 1 case with pPNET died 7 months and 16 months after diagnosis respectively. Conclusion PNET in children is a very highly malignant tumor with low long-term survival rate.Immunohistochemi-cal examination including CD99 and VIM is of important diagnostic value and CNS-PNET is prone to sequelae.

Objective To research the relation between the time-dependent appearances of myofibroblasts during the repair of contused skeletal muscle in rat and wound age determination. Methods A total of 35 SD male rats were divided into the control and six injured groups according to wound age as fol-lows: 12 h, 1 d, 5 d, 7 d, 10 d and 14 d after injury. The appearances of myofibroblasts were detected by HE staining, immunohistochemistry and confocal laser scanning microscopy. Masson’s trichrome staining was utilized to examine collagen accumulation in the contused areas. Results Immunohistochemical stain-ing showed that α-SMA+ myofibroblasts were initially observed at 5 d post-injury. The average ratio of myofibroblasts was highest at 14 d post-injury, with all samples, ratios more than 50%. In the other five groups, the average of α-SMA positive ratios were less than 50%. The collagen stained areas in the contused zones, concomitant with myofibroblast appearance, were increasingly augmented along with ad-vances of posttraumatic interval. Conclusion The immunohistochemical detection of myofibroblasts can be applied to wound age determination. The myofibroblasts might be involved in collagen deposition during the repair of contused skeletal muscle in rat.

Aim To investigate the effect of curcumin against high-fat-diet induced C57BL/6J mice bone changes and the correlation between the expression of cathepsin K and curcumin.Methods Curcumin treated C57BL/6J mice had been on high fat diet for 12 weeks.The HE, Alizarin red S staining and Safranin O/fast green staining of femur were employed to evaluate bone microstructure, bone metabolism and bone development.The expressions of cathepsin K were assessed by Western blot and immunohistochemical staining.Results Histopathological results showed that curcumin could improve the destruction of trabecular bone structure, cartilage development and bone calcification.Biomechanical results proved that curcumin could improve the bone strength of the type 2 diabetic mice induced by high fat.The results of immunohistochemistry and Western blot assay indicated that curcumin could significantly inhibit the expression of cathepsin K in bone tissues of mice.Conclusion Curcumin can increase bone strength, improve bone microstructure, and enhance the degree of bone calcification, which may be achieved by inhibiting the expression of cathepsin K.

Objective:To analyze the clinical and genetical characteristics of children with Gaucher disease and to explore the relationship between genotype and phenotype.Methods:In this retrospective study, the clinical data of 14 children with Gaucher disease diagnosed in Children′s Hospital of Nanjing Medical University from August 2016 to October 2021 were analyzed. Their general conditions, clinical manifestations, laboratory tests and gene variations were collected, followed by the analysis of the clinical phenotypes and genotypes.Results:Among 14 children diagnosed with Gaucher disease, 9 were males and 5 were females, with the age of diagnosis ranging from 0.7 to 15.8 years. There were 10 patients with type 1 Gaucher disease, 2 patients with type 2, and 2 patients with type 3. The most common clinical manifestations were splenomegaly, thrombocytopenia (14 cases), hepatomegaly (8 cases) and anemia (8 cases). There were 6 patients with growth retardation, and 5 patients lag in height compared with their peers. Bone abnormalities were revealed by magnetic resonance imaging in 7 type 1 Gaucher disease patients, but only 1 patient experienced bone pain. Patients with type 2 and type 3 Gaucher disease also presented with convulsions, nystagmus and hearing loss. Gaucher cells were found in bone marrow smears in 12 patients. The glucocerebrosidase gene variations identified in 13 patients were heterozygous and in 1 type 1 patient was homozygous of L483P. L483P variation accounted for 33%(10/30) of the variation alleles, followed by V414L, D448H and R159W. The variation alleles were L483P and L422R, F252I and L483P in 2 children with severe neurological manifestations of Gaucher disease. A novel variation c.22A>G was detected.Conclusions:Splenomegaly and thrombocytopenia are the main clinical presentations of Gaucher disease in children and bone lesions revealed by radiologic imaging appear prior to the occurrence of bone diseases, type 2 and type 3 Gaucher disease also present growth retardation and neurological manifestation. The most frequent variant allele is L483P, which are detected in all 3 subtypes of Gaucher disease. The L422R, F252I gene variants correlated with the neuronopathic phenotype.

Objective A neuroblastoma(NB)liver transplantation model was established and compared with the adrenal orthotopic transplantation model to explore its characteristics.Methods 5× 105 SK-N-SH cells were implanted along the long axis of the left lobe of mouse livers with a micro-injection needle.The growth,metastasis,expression of related genes,and histopathological changes of tumors were detected after the modeling.Results The tumor formation rate in mice inoculated with tumor cells reached 100％after 21 days,and tumor growth,metastasis,related gene expression changes,and pathological characteristics were apparent.Conclusions In this study,a neuroblastoma liver transplantation model was successfully constructed via a relatively simple surgical method to provide a more suitable choice for future scientific NB experiments.