Purpose To investigate the genetic changes of ALK gene in sporadic neuroblastoma in China, and to explore its role in neuroblastoma. Methods Total 56 cases of NB with overexpressed ALK protein were studied by fluorescence in situ hybridization ( FISH) , using interphase Vysis LSI ALK dual-color and break apart rearrangement probes. Literature under the subject was searched through PubMed. Results Of the 56 cases, ALK gain was found in 9 (16%) cases, ALK amplification was found in 1 (1. 8%) case only. No alterations of ALK were detected in the remaining 46 cases. Conclusion As a major predisposition gene as well as a poten-tial therapeutic target for neuroblastoma, the frequency of aberrant copy numbers of ALK gene in Chinese NB patients is closely similar with previously published results.

ObjectiveTo investigate the clinical and pathological features of Hirschprung disease (HD), intestinal neuro-nal dysplasia (IND) and hypoganglionosis (IH) in children.MethodsThe clinical data and pathologic slices from 238 children with intestinal dysganglionosis were retrospectively analyzed. The age, sex, involved intestinal length of children and prognosis were compared.ResultsIn 238 patients, 138 (58.0%) were diagnosed by rectal mucosal biopsies. There were 122 HD patients whose median age at diagnosis was 9 months and the ratio of male to female was 4.3:1, without involvement of whole colon. There were 45 IND patients whose median age at diagnosis was 14 months and the ratio of male to female was 1.05:1, and the whole colon of 33.3% patients was involved. There were two male IH patients whose ages at diagnosis were 12 years and 18 years respectively, and their whole colon was involved. There were 59 patients with HD complicated by IND whose median age at diagnosis was 13 months and the ratio of male to female was 5.56:1 and the whole colon of 16.9% patients was involved. There were 10 male patients with HD complicated by IH whose median age at diagnosis was 11.5 months and the whole colon of 80.0% patients was involved. The ages at diagnosis, the sex ratio, the rates of whole colon involved, and the cure rates among 5 groups were signiifcantly different (allP<0.01).ConclusionsThe rectal mucosal biopsy was the main method in diagnosis of intestinal dysganglionsis in children. Patients with HD had higher incidence and mild condition and favorable prognosis. Patients with IH or patients with HD complicated by IH had lower incidence rates and severe condition and poor prognosis, followed by patients with IND or patients with HD complicated by IND.

Objective:To compare the difference of epileptiform discharges detection in patients with epilepsy between the 25 electrodes electroencephalogram (EEG) system proposed by the International Federation of Clinical Neurophysiology in 2017 and the previous 19 electrodes EEG system.Methods:Patients suspected of epilepsy or with confirmed epilepsy who need a follow-up EEG were collected in Zhongshan Hospital, Fudan University from March 2018 to November 2019, and conventional video-EEG recording was performed on all patients for two hours with the standard 25 electrodes EEG system. Two neurophysiologists reviewed the recordings blindly using the 19 electrodes system and the 25 electrodes system, marking the epileptiform discharges and their amplitudes. Finally, the data were statistically analyzed.Results:A total of 403 patients were included in the study, in which 263 cases were diagnosed as epilepsy, including 129 cases of generalized epilepsy, 115 cases of temporal lobe epilepsy, 13 cases of frontal lobe epilepsy, two cases of parietal lobe epilepsy and four cases of occipital lobe epilepsy. In 115 temporal lobe epilepsy patients, 76 (66.09%) and 100 (86.96%) records were detected epileptiform discharges by the 19 or 25 electrodes EEG system respectively, and the difference was statistically significant (χ2=13.939, P<0.001). While in patients with non-temporal lobe epilepsy, there was not statistically significant difference between the two systems. In 76 patients whose temporal epileptiform discharges were detected by the two systems, the amplitudes of epileptiform discharges in the newly-added inferior temporal electrodes (F9/F10, T9/T10, P9/P10) and the original temporal electrodes (F7/F8, T7/T8, P7/P8) were (61.53±22.64) μV and (48.25±20.90) μV, respectively, with statistically significant difference between the two groups ( t=5.486, P<0.001). In patients with abnormal [79.59% (39/49) vs 61.22% (30/49), χ2=3.967, P=0.046] and normal [95.45% (42/44) vs 70.45% (31/44), χ2=9.724, P=0.003] imaging, the ability of the 25 electrodes EEG system to detect epileptiform discharges was higher than that of the 19 electrodes EEG system. Conclusion:The 25 electrodes EEG system can significantly improve the detection ability of temporal epileptiform discharges in patients with epilepsy, which is recommended for regular use to increase the detection ability of temporal area abnormal wave and assist the diagnosis and treatment of epilepsy.

Objective: To improve the cleaning and loading technology of nasal endoscope in order to ensure the cleaning effect, to improve the working efficiency, and to reduce the cleaning cost. Methods: A total of 480 reusable contaminated nasal endoscopes were divided into two groups according to random number table: Clean and load the nasal endoscopes (group A) with the usage of metal parts to open up the leaf; Clean and load the nasal endoscope (group B) with the usage of screw driver to open up the leaf. Each group has 240 pieces. After mechanical cleaning, observe and analyze the cleaning effect, loading effectiveness, loading capacity, loading time and CSSD operators′ degree of satisfaction. Results: The number of qualified cleaning joint parts of the two groups were 218 and 231 respectively, and the number of qualified cleaning leaf of the two groups were 214 and 227 respectively, and there were significant differences between the two groups (χ²= 5.828, 4.717, P < 0.05). The number of effective cleaning and loading 211 and 240 respectively, and there were significant differences between the two groups (χ²= 30.865, P < 0.01). The time it takes for loading were (2.89±0.22) s/piece and (1.80±0.21) s/piece respectively, and there were significant differences between the two groups. There were significant differences between the two groups (t = 55.535, P < 0.01). Among 62 CSSD operators, there were 51 and 59 operators in the two groups are satisfied, and there were significant differences between the two groups (χ²=10.806, P < 0.05). Conclusions Using the screw driver of the nasal endoscope helps to keep the leaf open during the process of mechanical cleaning, to ensure the cleaning effect, to shorten the loading time and increase the loading capacity. Thus improving the working efficiency and reducing the cleaning cost.

Objective:To analyze the clinical characteristics, therapeutic modalities and prognosis of desmoplastic small round cell tumor (DSRCT) in children, and to summarize the international research progress.Methods:A total of 8 children with DSRCT admitted to Shanghai Children′s Medical Center, Shanghai Jiaotong University, School of Medicine, from January 1999 to August 2019 were retrospectively studied.The clinical characteristics, consultation process and follow-up results were summarized, and the Kaplan-Meier survival analysis method was used to calculate the survival rate.Results:Among these 8 cases, there were 6 male children and 2 female children.Seven cases originated in the abdomen and pelvis, and 1 case originated in the sacral region.All cases had infiltrate surrounding tissues or viscera, and 4 cases(50%) had extra-peritoneal metastasis, including distant lymph node metastasis, liver, lung and bone metastasis.All patients received chemotherapy, among which 3 patients received radiotherapy, and 2 patients received autologous hematopoietic stem cell transplantation.The medical follow-up was continued to February 15, 2020, with the median follow-up period being 59 months.Three cases died and 5 cases survived (2 cases in complete remission, 1 case in recurrent relapse, 2 cases in partial remission still under treatment). The median relapse time was 14.5 months, the 3-year relapse-free survival rate was (30.0±17.5)%, and 3-year overall survival was (51.4±20.4)%.Conclusions:Half of DSRCT had distant metastasis; the prognosis was poor despite the aggressive multimodality therapeutic approaches, such as chemotherapy, cytoreductive surgery, and whole abdominopelvic radiotherapy and stem cell transplantation.

OBJECTIVETo explore the clinical characteristics and histopathological morphology features of bone marrow biopsies between refractory cytopenia of children (RCC) and acquired aplastic anemia (AAA) to facilitate the diagnosis, differential diagnosis and treatment of RCC and AAA.

METHODSWe retrospectively analyzed clinical data and histopathological morphology of bone marrow biopsies in RCC or AAA patients referred to our hospital from January 2011 to December 2012.

RESULTSThere were totally 130 patients studied. The final diagnoses of them were RCC in 78 cases (60.0%) and AAA in 52 cases (40.0%). The median WBC count, absolute neutrophil count, blood platelet count, hemoglobin level, and reticulocyte count were all higher in RCC children than AAA (P<0.01). All of RCC patients showed hypocellular biopsy specimens, and 84.6% (66/78) of them had cellularity of bone marrow biopsy specimens ranging from 20% to 60%. Patchy pattern distribution was seen in 98.7% (77/78) of RCC cases, and micromegakaryocyte was found in 61.5% (48/78) of RCC cases. All of AAA patients showed severe hypocellular biopsy specimens, and 88.5% (46/52) of them had cellularity of bone marrow biopsy specimens under 5%. Megakaryocyte was not found in 98.1% (51/52) of AAA cases. The response rates of immunosuppressive therapy using CsA ± rabbit anti- thymocyte globulin ± androgen ± traditional Chinese medicine for patients with RCC and AAA were 59.5% and 26.9% at 3 months (P=0.011), and 75.0% and 38.1% at 6 months, respectively (P=0.007).

CONCLUSIONRCC patients showed milder cytopenia and bone marrow hyperplasia than AAA. Patchy distribution of hematopoietic cells, erythroid islands with a marked left shift and micromegakaryocytes were decisive histomorphological patterns used to separate RCC from SAA. Immunosuppressive therapy using CsA ± rabbit anti- thymocyte globulin ± androgen ± traditional chinese medicine was an effective therapy in patients with RCC and AAA, and the outcome of immunosuppressive therapy for RCC patients was superior to that of AAA patients.

Adolescent ; Anemia, Aplastic ; diagnosis ; pathology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Myelodysplastic Syndromes ; diagnosis ; pathology ; Retrospective Studies