Objective To investigate the clinical application effects of tracheal intubation under general anesthesia guiding by HC visual laryngoscope in combination with fiberoptic bronchoscopy via clinical studies.Methods A total of 348 patients underwent the tracheal intubation under general anesthesia in the hospital between January 2013 and January 2015 were randomly selected and Divided into three groups according to different ways of guiding tracheal intubation.The first group was a simple fiber light guide bronchoscopy to guide the general anesthesia tracheal intubation was set to F group,In the second group,the general anesthesia tracheal intubation was set to H group for the simple HC video.The third group was HC video mirror combined with fiber light guide bronchoscopy to guide the general anesthesia tracheal intubation was set to H+F group.The general condition and intubation conditions such as the time and frequencies of intubation in three groups were recorded respectively.Results The general condition,age,BMI index,thyromental distance,interincisor distance value were similar among three groups.The time needed for intubation was the longest in group F up to (41 ± 11) s.The highest frequency of intubation was in group H with 30 times,and the time of glottis exposure was the longest in group F as (21 ± 9) s.The difference among groups and intra-groups has statistical significance (P＜0.05).Conclusion HC visual laryngoscope in combination with fiberoptic bronchoscopy guiding tracheal intubation under general anesthesia has a good effect in clinical practice,and is worthy of clinical promotion.

Objective To investigate cytochrome P450 1A2~* 1C gene polymorphism in Dai and Han nationality volunteers from Dehong autonomous prefecture in Yunnan province. Methods One hundred and seventeen Dai and 112 Han nationality volunteers from Dehong autonomous prefecture in Yunnan province were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed in genotyping analysis. Results There were 45 wild-type homozygotes (G/G), 63 heterozygotes (G/A) and 9 homozygotes among 117 Dai nationality volunteers, while 63 wild-type homozygotes (G/G), 44 heterozygotes (G/A) and 5 homozygots among 112 Han nationality volunteers. There was significant difference in the incidences of the genotypes between the two populations (P<0.05). The distribution of the genotypes of either population was in Hardy-Weinberg equilibrium. The frequency of the allele A in the 1ocus-2964 of CYP1 A2 was 35% (95% CI30%-40%) and 24% (95% CI 20%-30%) respectively in Dai and Han nationality volunteers. There was significant difference in the frequency between two populations (P<0.05). There was also significant difference in the frequency between Dai nationality volunteers and the populations of other regions. Conclusion CYP1A2~*1C gene polymorphism is one of factors of producing individual and racial variation in pharmacology in Dai and Han people from Dehong autonomous prefecture in Yunnan province.

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 explore the status quo of knowledge, attitude and practice (KAP) of diabetes in community diabetic patients, analyze its influencing factors, and provide a basis for community diabetes prevention and treatment. Methods Totally 820 diabetic patients from a community in Xuzhou were selected by cluster sampling and investigated with the general information questionnaire, diabetes knowledge questionnaire (DKQ), Problem Areas Diabetes Scale (PAID) and Summary of Diabetes Self-Care Activities (SDSCA) between January and November 2017. SPSS19.0 was used for statistical analysis of data. Results The scores of diabetes KAP in the 820 community diabetic patients was (35.92±7.59), (10.95±6.20) and (25.73±7.80), respectively; and there was a positive correlation between knowledge and attitude, attitude and practice, and knowledge and practice (r=0.093,0.102,0.337; P＜0.01). There were significant differences in the scores of knowledge questionnaires of patients with different occupations, educational levels, living conditions, sleep time, course of diabetes, treatment methods and BMI (P＜0.05); the score of attitude was statistically different among diabetic patients of different sex (P＜0.01); and the score of practice was statistically different between diabetic patients with different course of disease, educational background, profession and treatment methods (P＜0.01). Conclusions The KAP level of diabetes in the diabetic patients from the community in Xuzhou was of a failure level. Therefore, diabetes educators should go to grassroots units, enhance health education, and improve the overall ability of community diabetic patients.