Recurrent epistaxis with coagulation disorders in a boy aged 2 years / 中国当代儿科杂志

A boy, aged 2 years and 5 months, had recurrent epistaxis, and the coagulation function examination showed that activated partial thromboplastin time (APTT) was significantly prolonged. Further laboratory examinations showed that the prolonged APTT was not immediately corrected in the APTT correction test, with positive lupus anticoagulant and low prothrombin activity. The boy was diagnosed with hypoprothrombinemia-lupus anticoagulant syndrome. The condition was improved after treatment with glucocorticoid, immunoglobulin, and vitamin K1. The boy has been followed up for 6 months, and no epistaxis was observed. Prothrombin activity returned to normal, and lupus anticoagulant remained positive. This is a relatively rare disease, and for patients with bleeding symptoms and coagulation disorders, it is recommended to perform the tests such as APTT correction test, lupus anticoagulant testing, and coagulation factor dilution test, which can improve the detection rate of this disease, so as to achieve early diagnosis, provide rational treatment in the early stage, and improve the prognosis.

Clinical effect of multicenter multidisciplinary treatment in children with renal malignant tumors / 中国当代儿科杂志

OBJECTIVE@#To study the long-term clinical effect of multicenter multidisciplinary treatment (MDT) in children with renal malignant tumors.@*METHODS@#A retrospective analysis was performed on the medical data of 55 children with renal malignant tumors who were diagnosed and treated with MDT in 3 hospitals in Hunan Province from January 2015 to January 2020, with GD-WT-2010 and CCCG-WT-2016 for treatment regimens. A Kaplan-Meier survival analysis was used to analyze the survival of the children.@*RESULTS@#Of the 55 children, 10 had stage I tumor, 14 had stage Ⅱ tumor, 22 had stage Ⅲ tumor, 7 had stage IV tumor, and 2 had stage V tumor. As for pathological type, 47 had FH type and 8 had UFH type. All children underwent complete tumor resection. Of the 55 children, 14 (25%) received preoperative chemotherapy. All children, except 1 child with renal cell carcinoma, received postoperative chemotherapy. Among the 31 children with indication for radiotherapy, 21 (68%) received postoperative radiotherapy. One child died of postoperative metastasis. The incidence rate of FH-type myelosuppression was 94.4%, and the incidence rate of UFH-type myelosuppression was 100%. The median follow-up time was 21 months and the median survival time was 26 months for all children, with an overall survival rate of 98% and an event-free survival rate of 95%.@*CONCLUSIONS@#Multicenter MDT has the advantages of high success rate of operation and good therapeutic effect of chemotherapy in the treatment of children with renal malignant tumors, with myelosuppression as the most common side effects, and radiotherapy is safe and effective with few adverse events. Therefore, MDT has good feasibility, safety, and economy.

Clinical features of neuroblastoma: an analysis of 44 children / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features of neuroblastoma (NB) and the factors influencing survival rate.@*METHODS@#A total of 44 children with NB who were admitted from April 2016 to February 2020 were enrolled as research subjects. A retrospective analysis was performed on their medical data and follow-up data.@*RESULTS@#The common clinical symptoms of these 44 children were fever (10/44, 23%), mass (9/44, 20%), abdominal pain (8/44, 18%), cough (7/44, 16%), pale complexion (3/44, 7%), claudication (2/44, 5%), and abnormal activity (2/44, 5%). According to the INSS stage, 2 children (4%) had stage I NB, 5 children (11%) had stage II NB, 5 children (11%) had stage III NB, and 32 children (73%) had stage IV NB. The mean follow-up time was (15.3±1.5) months, with a recurrence rate of 20% and an overall survival rate of 82%. Among the 44 children, 29 (66%) achieved event-free survival and 7 (16%) had survival with tumor. The univariate analysis showed that a pathological type of NB and an increase in serum neuron-specific enolase (NSE) decreased the overall survival rate of children with NB (P<0.05).@*CONCLUSIONS@#The clinical symptoms of children with NB are not specific at the first visit. Fever, abdominal pain, and mass are common symptoms, and there is a high proportion of children in the advanced stage. The pathological type of NB and an increase in serum NSE may be associated with a reduction in the overall survival rate of children with NB.

Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes / 中国当代儿科杂志

This study analyzed the clinical features of 5 children with hereditary spherocytosis (HS) and the characteristics of ANK1 and SPTB gene mutations. All 5 children were confirmed with HS by peripheral blood genetic detection. Anemia, jaundice and splenomegaly were observed in all 5 children. Three children had an increase in erythrocyte osmotic fragility. All 5 children had negative results of the Coombs test, glucose 6 phosphate dehydrogenase test, sucrose hemolysis test, acidified-serum hemolysis test and thalassemia gene test. Peripheral blood smear showed an increase in spherocyte count in one child. High-throughput sequencing revealed ANK1 gene mutations in patients 1 to 3, namely c.3398(exon29)delA, c.4306C>T and c.957(exon9)_c.961(exon9)delAATCT, among which c.3398(exon29)delA had not been reported before. Patient 4 had c.318delGExon3 mutation in the SPTB gene. Patient 5 had mutations in the SPTB and SLC4A1 genes, among which c.3484delC in the SPTB gene was a spontaneous mutation; the mutation site of the SLCA4A1 gene was inherited from the father and was a non-pathogenic gene. This study suggests that anemia, jaundice and splenomegaly are major clinical manifestations of HS children. Most children with HS do not have the typical spherocytic changes. Genetic detection may help with the accurate diagnosis of HS.

Comparision of Different Detection Methods for Blood Flow Infection with Cryptococcus Neoformans / 中国实验血液学杂志

OBJECTIVE@#To compare the sensitivity and specificity of real-time fluorescent quanttative PCR(FQ-PCR), blood culture and serum capsular antigen test for the detection of blood flow infection with cryptococcus reoformans, so as to provide the experimental evidence for use of FQ-PCR to detect the blood flow infection with cryptococcus neoformans.@*METHODS@#Sixty male Sprague-Dawley (SD) rats were randomly divided into group A (immune suppression plus infection), group B (immune normal plus infection), group C (immune suppression plus non infection) and group D (normal control). The rats in group A were injected intraperitoneally with cyclophosphamide at D1 of experiment and were injected with suspension of cryptococcus neoformans by tail vein at D4 of experiment; the rats in group B were injected intraperitoneally with saline at D1 and were injected with suspension of cryprococcus neoformans by tail vein at D4; the rats in group C were injected intraperitoneally with cyclophosphamide at D1 and were injected with saline by tail vein at D4; the rats in group D were injected intaperitoneally with saline at D1 and were injected with saline by tail vein at D4.At D 4 after successful extablishment of rat model with infection, the blood samples were collected from ocular veneous plexus at 0, 6, 12, 24, 48 and 72 hours by parity number respectively, then the plasma was extracted, and the blood samples infected at different time were detected by FQ-PCR, and at the same time, the blood culture and serum capsular antigen test were performed. The detected results obtained from above-mentioned 3 kinds of detection methods were compared.@*RESULTS@#The FQ-PCR detection of cryptococcus neoformoms showed that the positive rate detected after 12 hours in A group significantly increased (P<0.05), as compared with B, C and D groups. For the blood samples, the positive rate detected by FQ-PCR was significantly higher than that detected by the blood culture and serum capsular antigen test, moreover the detected results could be quantified, and difference was statistically significant (P<0.05).@*CONCLUSION@#The FQ-PCR system for detection of cryptococcus neoformant can detect the pathogens in blood of infected rats, and its sensitivity is superior to the blood culture and serum capsular antigen test; the FQ-PCR can detect the pathogens in blood of infected rats much more early, as compared with the blood culture and serum capsular antigen test.

Expression of TOPK/PBK in children with malignant lymphoma or reactive lymphoid hyperplasia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the difference in expression of TOPK/PBK in lymph nodes between children with malignant lymphoma and those with reactive lymphoid hyperplasia.</p><p><b>METHODS</b>Eighty children with malignant lymphoma and twenty children with reactive lymphoid hyperplasia were enrolled as subjects. Immunohistochemistry was used to determine the expression of TOPK/PBK in all the subjects. The expression of TOPK/PBK was compared between the two groups.</p><p><b>RESULTS</b>The TOPK/PBK-positivity rate was significantly higher in children with malignant lymphoma than in those with reactive lymphoid hyperplasia (P<0.05). There was no significant difference in the TOPK/PBK-positivity rate between the children with Hodgkin's lymphoma and non-Hodgkin's lymphoma (NHL). There were significant differences in the TOPK/PBK-positivity rate among children with different pathological types of NHL (P<0.05): the children with lymphoblastic lymphoma showed the highest TOPK/PBK-positivity rate and those with mature B-cell lymphoma and mature T/NK-cell lymphoma had a similar TOPK/PBK-positivity rate.</p><p><b>CONCLUSIONS</b>The expression of TOPK/PBK is up-regulated in the lymph nodes of children with malignant lymphoma. The expression level of TOPK/PBK may be related to the pathological type of NHL.</p>