Objective To investigate the changes of cellular immunity and humoral immunity in children with acute or critical illness. Methods Seventy-three critically ill children admitted to PICU of Chil-dren′s Hospital Affiliated to Fudan University during the period from April,2015 to September,2015 were the objects of study. Blood samples were collected within 48 hours after admition. The lymphocyte subpopulation was measured by flow cytometry,and the level of humoral immunity was measured by rate immune scatter turbidimetry,and the neutrophil function was measured by flow cytometry-DHR analysis. Twenty-three cases from 73 cases were detected the second time after admitted to hospital for seven days. Ten health children be-fore elective surgery were selected as control. Results (1) Compared with the control,the percentages of CD3 +T cells and CD8 +T cells were significantly decreased in critically ill children within 48 hours of admis-tion[(57. 43 ± 13. 46)%,(21. 26 ± 7. 87)% vs. (66. 24 ± 5. 27)%,(26. 82 ± 7. 63)%,P<0. 05]; At the same time,CD4 +T cells and NK cells had no significant change[(33. 42 ± 11. 29)%,(8. 83 ± 7. 77)% vs. (34. 89 ± 4. 94)% (11. 34 ± 5. 60)%,both P<0. 05]; While B cells were significantly increased[(31. 69 ±13. 83)% vs. (21. 08 ±7. 24)%,P<0. 05]. Neutrophil activation rate[(14. 32 ±14. 81)%] was signifi-cantly higher than the normal reference value ( 0 -10%) and the activation rate was more than 90% after stimulated by PMA. The plasma level of complement C3[(0. 88 ± 0. 31) g/L] was lower than that of the control group[(1. 19 ± 0. 18)g/L,P<0. 05]. (2) Compared with the first time,the percentages of CD3 +cells and CD4 + cells were increased after treated for one week in 23 patients[(61. 20 ± 13. 56)%,(36. 79 ± 9. 95)% vs. (56. 80 ± 13. 99)%,(32. 86 ± 10. 87)%,both P<0. 05]. No significant difference in neutrophil activation and activation rate after PMA stimulation was found compared with admition. IgA,IgM and comple-ment C3 were significantly increased[(0. 98 ± 0. 75) g/L,(1. 00 ± 0. 39) g/L,(1. 15 ± 0. 34) g/L vs. (0. 80 ± 0. 69) g/L,(0. 86 ± 0. 48) g/L,(0. 93 ± 0. 23) g/L,all P<0. 05]. Conclusion Immune disorders occur in critically ill children in the early stage of illness,the most obvious change is cellular immune response,and im-mune function starts to recover after one week.

Objective To investigate mental health literacy (MHL) of community medical staffs in district and town of Zhongshan city,and to provide data to improve MHL of community medical staffs.Methods Totally 352 medical staffs who were not psychiatric physician and 81 psychiatric physician were selected.The Chinese Mental Health Knowledge Awareness Questionnaire (published by Ministry of Health) was used to investigate the awareness rate of mental health knowledge.Five vignettes of two schizophrenia,one bipolar disorder,one depression and one obsessive compulsive disorder,each with 8 related questions,were used to investigate the recognition and response ability.Results The average awareness rate of the two groups was more than 80.0% (87.6%,91.6%).For the item 2(75.6%,88.6%),6(74.1%,62.6%),19(36.5%,65.6%),and 20(74.1%,86.2%),the awareness rates were lower than 80.0%,and there were significant differences between the two groups (x2=8.45,4.92,27.48,6.99,all P<0.05).In vignettes survey,the correct rate was lower in the staffs who did not engaged in the mental health work than those in the other group,the difference was statistically significant(64.6% vs.75.9%,P<0.001).For both of the two groups the correct rate of depression was the lowest(x2=44.46,P<0.001).There was statistically significant difference between the total (x2=141.17,P<0.001).Conclusion The awareness rate of mental health knowledge has reached the national standards for community medical staffs,but they have to improve for some knowledge point.Their recognition and response ability for mental illness should be improved.

Primary immunodeficiency disease (PID) is a disease that seriously affects children′s life and health.Early identification and timely intervention can significantly improve prognosis.Some PIDs appear clinical warning symptoms in neonatal period, which help clinicians to carry out early recognition.However, there are still great challenges in early detection of PIDs.At present, there are PID screening methods based on dried blood spots, including TREC screening for SCID and other T lymphocytopenia diseases, KREC screening for XLA and other B-lymphocytopenia diseases, and multiplex protein profiling screening for complement and phagocyte deficiencies.With the development of gene sequencing, next generation sequencing(NGS) has a good prospect in the application of newborn PID screening.Therefore, it is urgent to establish screening process of Chinese newborn PID.This review elaborated on the progress of newborn PID screening.

Every year more than 10 million people newly infected with Mycobacterium tuberculosis (MTB) worldwide, which seriously threats human health and life. The anti-MTB infection drugs are constantly developed and updated. Vitamin D3 is a drug which can regulate the immune system, its effect on MTB infection has attracted more and more attention. This article reviews the clinical efficacy of vitamin D3 in adjuvant therapy for MTB infection, and its mechanism in regulating the innate and adaptive immune system, to provide insight for treatment of MTB infection.

Objective To explore the application effects of problem-based learning (PBL) combined with WeChat video teaching mode of the practice nurses teaching in digestive endoscope department, so as to provide ideas and methods for practice nurses teaching of digestive endoscopy. Methods A total of 90 practice nurses who entered the gastroenterology department of the Central Hospital of Enshi Autonomous Prefecture our Institute of digestive endoscopy from January to December 2017 were selected as the research subjects by cluster sampling. The 45 practice nurses from January to June 2017 were recruited as the control group, and the other 45 from July to December 2017 were recruited as the experimental group. The control group used the conventional teaching method. The experimental group used PBL combined with WeChat video teaching mode. After 1 month's practice, the theoretical knowledge, teaching satisfaction and critical thinking ability were compared between the two groups. Results The theoretical knowledge score of the control group was (83.49±6.82), which was lower than that of the experimental group (89.97±4.38), and the difference was statistically significant (t=-5.363, P＜0.001). The satisfaction rate of the control group was 55.56%, which was lower than that of the experimental group (88.89%), and the difference was statistically significant (χ2=12.461, P＜ 0.001). The total score and the scores of each dimension of critical thinking ability of control group were all lower than those of the experimental group, and the differences were statistically significant (P＜ 0.05). Conclusions The application of PBL combined with WeChat video teaching mode in the teaching practice of digestive endoscopy nurses can improve the academic knowledge scores of practice nurses, improve their satisfaction with teachers, and help the training of critical thinking ability, which is worthy of clinical reference and promotion.

Objective To explore the clinical value of genetic screening for early identification of WAS gene-related disorders in newborns.Methods This was a retrospective study.Neonatal Genome Project from Children's Hospital of Fudan University collected 5 800 high-risk newborns in the neonatal intensive care unit to study the patients' genetic causes using high-throughput sequencing from January 2016 to December 2017.Eleven newborns (all were boys) with pathogenic or likely pathogenic variants in WAS gene were enrolled.Data of clinical characteristics,gene variants and genotype-phenotype correlation were collected and summarized.Results Eleven patients included 5 cases with Wiskott-Aldrich syndrome (WAS) and 6 cases with X-linked thrombocytopenia (XLT).Two patients with WAS developed clinical manifestations in the early neonatal period,and 3 patients in 5-8 weeks after birth.Three neonates with XLT were hospitalized for other diseases in the first place.Their platelet count was found to be reduced after admission to hospital,and diagnosis was made after genetic testing.Eleven pathogenic or likely pathogenic variants in WAS gene were identified.Among them,7 were first reported in this study,including 2 frame shift variants c.138delG and c.388_390del,4 splicing variants c.1453+ 1G＞A,c.734+ 1G＞C,c.135G＞A and c.1453+3G＞C,and 1 missense variant c.1118C＞T.The other 4 reported variants were c.777+ 1G＞A,c.107_ 108delTT,c.436delC and c.1509_*3delAGTG.Conclusions The clinical features of WAS gene-related disorders in neonatal period lack specificity.Genetic screening in newborns plays an important role in the early diagnosis of diseases and provides providing evidence for the early intervention.

Objective:To evaluate the efficacy and safety of unrelated umbilical cord blood stem cell transplantation (UCBT) with reduced-intensity conditioning regimens in the treatment of hyper-IgM syndrome (HIGM) caused by CD40 ligand gene (CD40LG) mutation.Methods:Clinical features, laboratory data and treatment prognosis of 3 patients with HIGM caused by CD40LG mutation treated with UCBT in Children′s Hospital of Fudan University from May 2018 to August 2019 were analyzed retrospectively. The literature search was conducted with "CD40 ligand deficiency" and "hematopoietic stem cell transplantation" as keywords at China National Knowledge Infrastructure, Wanfang, Weipu and Pubmed databases (up to February 2021) to summarize donor selection, stem cell source, conditioning regimen and prognostic factors of this disease.Results:Three boys with recurrent respiratory tract infection were diagnosed as HIGM with CD40LG mutation. The age of UCBT was 1.0, 1.4 and 0.5 years respectively. Reduced-intensity conditioning regimen including busulifan, fludarabine and cyclophosphamide were used in all patients. Human leucocyte antigen matching of patients and umbilical cord blood was 8/10, 10/10 and 9/10 respectively. All patients achieved complete donor chimerism 14 days after UCBT. All patient suffered grade Ⅰ acute skin graft-versus-host disease without other severe complications. Up to the last follow-up, their disease-free survival time were 33, 18, 18 months after transplantation respectively. No reports were found in Chinese journals, while 24 publications were found in English journals. According to the literature, 258 HIGM patients with CD40LG mutation were treated with hematopoietic stem cell transplantation (HSCT). Matched sibling donors (30.6%(79/258)) and unrelated donors (40.3% (104/258)) were main donor types. Bone marrow (50.8%(131/258)) was the main source of grafts, myeloablative conditioning (66.7% (172/258)) was the main conditioning regimen, and the overall survival rate after transplantation was 70.9% (183/258). Lung injury and liver complications before transplantation were adverse factors affecting prognosis. Among the 14 patients who received UCBT, 2 patients suffered from engraftment failure, 2 patients had mixed chimerism and 3 patients died after transplantation.Conclusions:UCBT is safe and effective in the treatment of HIGM caused by CD40LG mutation. Reduced-intensity conditioning regimen is worthy of further study.

Objective:To evaluate the efficacy of allogeneic hematopoietic stem cell transplantation for the treatment of combined immunodeficiency (CID) and explore prognostic risk factors.Methods:In this retrospective cohort study, clinical characteristics, laboratory tests and prognosis of 73 CID children who underwent allogeneic hematopoietic stem cell transplantation from February 2014 to April 2022 in the Children′s Hospital of Fudan University were analyzed. Based on the subtypes of diseases, all patients were divided into severe combined immunodeficiency disease (SCID) group and other CID group. Based on the types of donors, all patients were divided into matched sibling donor group, matched unrelated donor group, unrelated cord blood group, and haploidentical donor group. Kaplan-Meier method and Log-Rank test were used to analyze the survival data. Cox regression was used to analyze prognostic factors.Results:Among the 73 patients, there were 61 (84%) males and 12 (16%) females. Fifty-five (75%) patients were SCID, and 18 (25%) patients were other CID. Donor source included 2 (3%) matched sibling donors (MSD), 3 (4%) matched unrelated donors (MUD), 64 (88%) unrelated cord blood (UCB), and 4 (5%) haploidentical donors. The age at transplant was 10.7 (5.9, 27.5) months, and the follow-up time was 36.2 (2.5, 62.9) months. The 3-year overall survival rate of 73 patients with CID was (67±6) %. No significant difference was found in the 3-year overall survival rates between patients with SCID (55 cases) and other CID (18 cases) ((64±7) % vs. (78±10) %, χ2=1.31, P=0.252). And no significant difference was found in the 3-year overall survival rates among patients who received MSD or MUD (5 cases), UCB (64 cases), and haploidentical donor (4 cases) transplant (100% vs. (66±6)% vs. (50±25) %, χ2=2.30, P=0.317). Cox regression analysis showed that the medical history of sepsis ( HR=2.55, 95% CI 1.05-6.20, P=0.039) and hypoalbuminemia at transplant ( HR=2.96, 95% CI 1.14-7.68, P=0.026) were independent risk factors for the prognosis of allogeneic hematopoietic stem cell transplantation in pediatric patients with CID. Conclusions:Allogeneic hematopoietic stem cell transplantation is an effective treatment for CID. The medical history of sepsis and hypoalbuminemia at transplant were risk factors for prognosis. Enhancing infection prevention and nutritional intervention before transplant can improve patient prognosis.

Objective: To evaluate the efficacy and safety of pegylated recombinant human granulocyte colony-stimulating factor (PEG-rhG-CSF) in prophylaxis neutropenia after chemotherapy in patients with lymphoma. Methods: This was a multicenter, single arm, open, phase Ⅳ clinical trial. Included 410 patients with lymphoma received multiple cycles of chemotherapy and PEG-rhG-CSF was administrated as prophylactic. The primary endpoint was the incidence of Ⅲ/Ⅳ grade neutropenia and febrile neutropenia (FN) after each chemotherapy cycle. Meanwhile the rate of antibiotics application during the whole period of chemotherapy was observed. Results: ①Among the 410 patients, 8 cases (1.95%) were contrary to the selected criteria, 35 cases (8.54%) lost, 19 cases (4.63%) experienced adverse events, 12 cases (2.93%) were eligible for the termination criteria, 15 cases (3.66%) develpoed disease progression or recurrence, thus the rest 321 cases (78.29%) were into the Per Protocol Set. ②During the first to fourth treatment cycles, the incidences of grade Ⅳ neutropenia after prophylactic use of PEG-rhG-CSF were 19.14% (49/256) , 12.5% (32/256) , 12.18% (24/197) , 13.61% (20/147) , respectively. The incidences of FN were 3.52% (9/256) , 0.39% (1/256) , 2.54% (5/197) , 2.04% (3/147) , respectively. After secondary prophylactic use of PEG-rhG-CSF, the incidences of Ⅳ grade neutropenia decreased from 61.54% (40/65) in the screening cycle to 16.92% (11/65) , 18.46% (12/65) and 20.75% (11/53) in 1-3 cycles, respectively. The incidences of FN decreased from 16.92% (11/65) in the screening cycle to 1.54% (1/65) , 4.62% (3/65) , 3.77% (2/53) in 1-3 cycles, respectively. ③The proportion of patients who received antibiotic therapy during the whole period of chemotherapy was 34.39% (141/410) . ④The incidence of adverse events associated with PEG-rhG-CSF was 4.63% (19/410) . The most common adverse events were bone pain[3.90% (16/410) ], fatigue (0.49%) and fever (0.24%) . Conclusion During the chemotherapy in patients with lymphoma, the prophylactic use of PEG-rhG-CSF could effectively reduce the incidences of grade Ⅲ/Ⅳ neutropenia and FN, which ensures that patients with lymphoma receive standard-dose chemotherapy to improve its cure rate.

The immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is the only known human genetic disease involving DNA methylation defects.About 50% of the cases are caused by the compound heterozygous mutation of DNMT3B gene.About a hundred cases were reported in the world, but only a few cases came from China.There may be a misdiagnosis and missed diagnosis.To the best of our knowledge, no Chinese article systematically discusses the ICF syndrome.This paper aims to review the possible mechanisms, clinical manifestations, genetic characteristics, treatment, and prognosis of the ICF syndrome, and to improve Chinese doctors′ knowledge about this disease.