Objective The aim of this study was to evaluate the outcomes of auditory perception skills after cochlear implantation in children with malformed inner ear and compare them with a group of congenitally deaf chil ‐dren implantees with a normal inner ear .Methods 21 children with inner ear malformation were retrospective stud‐ied .There were 9 cases with large vestibular aqueduct syndrome (LVAS) ,7 with Mondini abnormality ,5 with com‐mon cavity .The postoperative outcomes of these 21 cases were compared with 21 cases with normal inner ear struc‐ture .The outcomes of all the children after the surgery in 1 year were studied using the soundfield test in frequency ranging 0 .5 to 4 kHz and the auditory perception skills ,and the auditory perception skills consisted of natural envi‐ronmental sound recognition ,consonants recognition ,vowels recognition ,numeral recognition ,tone recognition , monosyllabe recognition ,disyllabe recognition ,trisyllabe recognition ,short sentences recognition ,selective hearing recognition .Results The results of soundfield test and auditory perception skills after cochlear implantation in 9 children with LVAS and 6 with Mondini abnormality had no significant difference (P > 0 .05) comparing with the control cases .Postoperative thresholds in soundfield test were 50 ~ 75 dB HL for 1 case with severe Mondini abnor‐mality ,the mean value of hearing ability score was 70 .5% ,and less than the results of control cases .Postoperative mean thresholds in soundfield test were 65 .26 ± 5 .13 dB HL for 5 cases with common cavity ,the hearing ability score was less than the results of control cases (P< 0 .05) .Conclusion The effect of rehabilitation had no difference between the children with LVAS and the cases with normal inner structure after cochlear implantation ,but was poo‐rer in children with severe Mondini abnormality and common cavity .It was necessary to evaluate the degree of mal‐formation of inner ear structure before cochlear implantation .

Objective To investigate the characteristics of the bone marrow mesenchymal stem cell(MSC)in children with aplastic anemia(AA)in vitro,and the expressions of tumor necrosis factor -α-induced protein -8 -like 2(TIPE2)in the bone marrow,and the correlation between the level of TIPE2 mRNA with γ-interferon(IFN -γ)and IL -6 in AA patients.Methods Bone marrow samples were collected from 1 8 children with AA(AA group)and 8 children with bone injury (control group)who were hospitalized in Jinan Children′s Hospital from January 201 2 to June 201 5.MSC were isolated and cultured.The morphology of MSC was observed and immune phenotype was detected.The TIPE2 mRNA was detected by using real -time fluorescence quantitative PCR,and the levels of IFN -γand IL -6 were detected by using enzyme linked immunosorbent assay.Results Different sizes had been presented in the primi-tive MSC of AA patients,but the third passage MSC until 80% confluence had manifested the uniform convergence with long spindle and swirl distribution.In the sixth passage,cells showed degenerative change.The primitive and first pa-ssage MSC in patients with AA was longer than that in the controls.CD73 ,CD1 05 ,CD44 and CD90 were expressed in MSC,while CD34 ,CD45 ,CD271 expressed rarely.The level of TIPE2 mRNA in AA patients (5.29 ±1 .56)was obviously lower than that of the control group(8.68 ±2.00),and the difference was significant(t =-4.48,P <0.01 ).The con-centration of IFN -γ[(5.48 ±1 .97)ng/L]and IL -6[(5.43 ±1 .92)ng/L]in AA patients were higher than those of the control group[(3.40 ±1 .24)ng/L,(3.79 ±0.92)ng/L],and the differences were significant (t =2.70, 2.26,all P <0.05).The level of TIPE2 mRNA in AA patients was negatively related with IFN -γand IL -6(r =-0.838,-0.658,all P <0.05),but there was no significant correlation between them in the control group (all P >0.05).Conclusions The proliferation of MSC is significantly reduced in patients with AA.TIPE2,as an important role to stabilize the immune system,plays an important role in the occurrence of AA by its low expression and up -regula-ting the expression of inflammatory factors.

Objective:To discuss the effect of lumbar disc herniation of motility kinesiophobia during convalescence which intervened by Chinese medicine nursing.Methods:A total of 172 patients with lumbar disc herniation treated at TCM Rehabitation Department at Three Gorges Hospital Affiliated to Chongqing University from May 1, 2017 to January 30, 2019 were selected and divided into control group and intervention group by random digits table method with 86 cases each. The control group was given routine psychological nursing, and the intervention group was given emotional nursing of traditional Chinese medicine combined with cognitive behavior intervention. The scores of anxiety, depression and kinesiophobia, the quality of life, the completion and accuracy of rehabilitation training before and after intervention were compared between the two groups.Results:There was no significant difference in the scores of anxiety, depression and kinesiophobia, the quality of life, the completion and accuracy of rehabilitation training before intervention between the two groups( P>0.05). The scores of anxiety, depression at 1,2,3 weeks after intervention was (54.61±7.23), (49.98±6.55), (45.03±6.21) and (55.16±7.53), (50.96±6.45), (46.31±5.72) in the intervention group, (59.69±7.52), (56.92±6.79), (53.62±7.28) and (60.65±7.96), (56.87±6.80), (52.80±5.92) in the control group, the differences were significant( Fgroup values were 10.157, 9.138, P<0.05). The scores of kinesiophobia, the quality of life at 1,2,3 weeks after intervention was (39.66±4.02), (30.58±4.02), (24.38±3.87) and (43.83±2.74), (56.72±3.81), (75.27±5.83)in the intervention group, (43.71±6.87), (37.83±6.81), (33.95±2.86) and (42.50±3.92), (46.05±3.95), (51.62±4.64) in the control group, the differences were significant( Fgroup values were 30.718, 30.938, P<0.01). The completion and accuracy of rehabilitation training at 1, 2, 3 weeks after intervention was (69.08±1.83), (77.05±2.04), (87.34±3.16) and (60.32±2.19), (70.42±3.22), (83.93±2.74) in the intervention group, (54.23±4.22), (62.72±2.65), (73.51±5.41) and (48.24±5.07), (59.77±4.13), (75.64±3.33) in the control group, the differences were significant( Fgroup values were 28.471, 25.139, P<0.01). Conclusions:Emotion nursing of traditional Chinese medicine combined with cognitive behavioral intervention is helpful to relieve the anxiety and depression of patients with lumbar disc herniation, effectively reduce the kinesiophobia of patients during rehabilitation, improve the quality of life of patients, improve the completion and accuracy of rehabilitation training of patients, and contribute to the improvement of rehabilitation effect and the realization of good treatment outcome.

Objective:To analyze the factors affecting delayed chemotherapy in children with Burkitt lymphoma (BL) and their influence on prognosis.Methods:Retrospective cohort study. Clinical data of 591 children aged ≤18 years with BL from May 2017 to December 2022 in China Net Childhood Lymphoma (CNCL) was collected. The patients were treated according to the protocol CNCL-BL-2017. According to the clinical characteristics, therapeutic regimen was divided into group A, group B and group C .Based on whether the total chemotherapy time was delayed, patients were divided into two groups: the delayed chemotherapy group and the non-delayed chemotherapy group. Based on the total delayed time of chemotherapy, patients in group C were divided into non-delayed chemotherapy group, 1-7 days delayed group and more than 7 days delayed group. Relationships between delayed chemotherapy and gender, age, tumor lysis syndrome before chemotherapy, bone marrow involvement, disease group (B/C group), serum lactate dehydrogenase (LDH) > 4 times than normal, grade Ⅲ-Ⅳ myelosuppression after chemotherapy, minimal residual disease in the interim assessment, and severe infection (including severe pneumonia, sepsis, meningitis, chickenpox, etc.) were analyzed. Logistic analysis was used to identify the relevant factors. Kaplan-Meier method was used to analyze the patients' survival information. Log-Rank was used for comparison between groups.Results:Among 591 patients, 504 were males and 87 were females, the follow-up time was 34.8 (18.6,50.1) months. The 3-year overall survival (OS) rate was (92.5±1.1)%,and the 3-year event-free survival (EFS) rate was (90.5±1.2)%. Seventy-three (12.4%) patients were in delayed chemotherapy group and 518 (87.6%) patients were in non-delayed chemotherapy group. The reasons for chemotherapy delay included 72 cases (98.6%) of severe infection, 65 cases (89.0%) of bone marrow suppression, 35 cases (47.9%) of organ dysfunction, 22 cases (30.1%) of tumor lysis syndrome,etc. There were 7 cases of chemotherapy delay in group B, which were seen in COPADM (vincristine+cyclophosphamide+prednisone+daunorubicin+methotrexate+intrathecal injection,4 cases) and CYM (methotrexate+cytarabine+intrathecal injection,3 cases) stages. There were 66 cases of chemotherapy delay in group C, which were common in COPADM (28 cases) and CYVE 1 (low dose cytarabine+high dose cytarabine+etoposide+methotrexate, 12 cases) stages. Multinomial Logistic regression analysis showed that the age over 10 years old ( OR=0.54,95% CI 0.30-0.93), tumor lysis syndrome before chemotherapy ( OR=0.48,95% CI 0.27-0.84) and grade Ⅲ-Ⅳ myelosuppression after chemotherapy ( OR=0.55,95% CI 0.33-0.91)were independent risk factors for chemotherapy delay.The 3-year OS rate and the 3-year EFS rate of children with Burkitt lymphoma in the delayed chemotherapy group were lower than those in the non-delayed chemotherapy group ((79.4±4.9)% vs. (94.2±1.1)%, (80.2±4.8)% vs. (92.0±1.2)%,both P<0.05). The 3-year OS rate of the group C with chemotherapy delay >7 days (42 cases) was lower than that of the group with chemotherapy delay of 1-7 days (22 cases) and the non-delay group (399 cases) ((76.7±6.9)% vs. (81.8±8.2)% vs. (92.7±1.3)%, P=0.002).The 3-year OS rate of the chemotherapy delay group (9 cases) in the COP (vincristine+cyclophosphamide+prednisone) phase was lower than that of the non-chemotherapy delay group (454 cases) ((66.7±15.7)% vs. (91.3±1.4)%, P=0.005). Similarly, the 3-year OS rate of the chemotherapy delay group (11 cases) in the COPADM1 phase was lower than that of the non-chemotherapy delay group (452 cases) ((63.6±14.5)% vs. (91.5±1.3)%, P=0.001). Conclusions:The delayed chemotherapy was related to the age over 10 years old, tumor lysis syndrome before chemotherapy and grade Ⅲ-Ⅳ myelosuppression after chemotherapy in pediatric BL. There is a significant relationship between delayed chemotherapy and prognosis of BL in children.

OBJECTIVE: To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C. METHODS: The patient underwent clinical examination and was subjected to next generation sequencing. Suspected mutations were validated by Sanger sequencing. Potential impact of the novel mutation was predicted by SIFT, PolyPhen-2 and MutationTaster software. RESULTS: The child has featured hepatosplenomegaly, increased direct bilirubin, jaundiced skin and liver damage. DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene, namely c.2728GG (p.P90R), which were inherited from his mother and father, respectively. The c.2728G>A (p.G910S) mutation was previously reported, while the c.269C>G (p.P90R) was a novel mutation. CONCLUSION The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene. Above finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.
Asian Continental Ancestry Group ; Bilirubin ; Carrier Proteins ; genetics ; Child ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Membrane Glycoproteins ; genetics ; Mutation ; Niemann-Pick Disease, Type C ; genetics