To have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.

Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes.

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.

In light of the scarcity of freshwater resources and challenges in ensuring potable water supply at naval stations,the entire process of drinking water supply at a naval station was comprehensively investigated by field surveys and inquiries.The drinking water supply of the naval station was significantly affected by low and high water periods,and the water quality was poor.The water purification was insufficient.The freshwater collected through groundwater or rainwater had a poor taste,which resulted in a low level of satisfaction among officers and soldiers.In consideration of the meteorological characteristics and water resources utilization status at the island observation station,this study presents recommendations for enhancing the drinking water supply for officers and soldiers stationed there.Furthermore,this study discusses the feasibility of implementing air-to-water production technology to improve the quality of drinking water at the naval island stations,thereby safeguarding personnel health and maintaining combat effectiveness.

The condition of patients with severe traumatic brain injury (sTBI) complicated by corona virus 2019 disease (COVID-19) is complex. sTBI can significantly increase the probability of COVID-19 developing into severe or critical stage, while COVID-19 can also increase the surgical risk of sTBI and the severity of postoperative lung lesions. There are many contradictions in the treatment process, which brings difficulties to the clinical treatment of such patients. Up to now, there are few clinical studies and therapeutic norms relevant to sTBI complicated by COVID-19. In order to standardize the clinical treatment of such patients, Critical Care Medicine Branch of China International Exchange and Promotive Association for Medical and Healthcare and Editorial Board of Chinese Journal of Trauma organized relevant experts to formulate the Chinese expert consensus on clinical treatment of adult patients with severe traumatic brain injury complicated by corona virus infection 2019 ( version 2023) based on the joint prevention and control mechanism scheme of the State Council and domestic and foreign literatures on sTBI and COVID-19 in the past 3 years of the international epidemic. Fifteen recommendations focused on emergency treatment, emergency surgery and comprehensive management were put forward to provide a guidance for the diagnosis and treatment of sTBI complicated by COVID-19.

Objective : To compare the disinfection effect of 3% (v/v) hydrogen peroxide and 500 mg/L chlorine-containing disinfectants in the independent waterway of a periodontal ultrasonic scaler to provide a reference for clinical waterway disinfection management in stomatology departments. Methods : The 18 ultrasonic scalers were randomly divided into 3 groups of 6 units: the control group, experimental group 1 (3% hydrogen peroxide disinfectant group), and experimental group 2 (500 mg/L chlorine-containing disinfectant group). The replaceable parts of the independent waterway pipes of the 3 groups of ultrasonic scalers were replaced, and the water supply was supplied with sterile distilled water (DW). In the control group, special treatment was not applied to the nonreplaceable pipe part. In experimental group 1, the 3% hydrogen peroxide was used to disinfect nonreplaceable pipelines. In experimental group 2, the nonreplaceable part was disinfected with the 500 mg/L chlorine-containing disinfectant. The water sample was taken from the outlet of the scaler working part in the three groups for monitoring before disinfection, immediately after disinfection and 10 consecutive days after disinfection. Bacteria in the water samples were cultured for the colony counts. Then, the bacterial culture data were compared between groups. The qualified criterion of the water sample was that the number of bacterial colonies was less than or equal to 100 CFU/mL. After disinfection, a bacterial species mass spectrometry identification analysis was carried out when the number of bacterial colonies in each group exceeded the standard for the first time. Biofilms from the inner wall of the tube in the three groups were observed under an electron microscope on the 10th day after disinfection. Results : There were no significant differences between the three groups before disinfection (F = 2.549, P = 0.111). The number of bacterial colonies in the spout of 6 scalers in the control group all exceeded the standard, and three kinds of bacteria were cultured: Sphingomonas melonis, Herbaspirillum huttiense, and Ralstonia pickettii. Compared with those in the control group, the number of bacterial colonies in experimental group 1 decreased significantly for 1-2 days after disinfection (P<0.05) and reached the standard. On the 3rd day after disinfection, the number of bacterial colonies of group 1 increased rapidly and exceeded the standard, and three kinds of bacteria were cultured: Sphingomonas, Herbaspirillum huttiense, and Ralstonia pickettii. For experimental group 2, the number of bacterial colonies decreased significantly compared to the control group on Days 1 to 6 after disinfection, but the number of bacterial colonies increased slightly from the 7th day after disinfection and exceeded the standard. Two kinds of bacteria were cultured: Herbaspirillum huttiense and Ralstonia pickettii. The average number of bacterial colonies 10-day after disinfection in experimental group 2 was lower than that in experimental group 1(P<0.001). Under an electron microscope, the biofilm thickness of the two experimental groups was significantly lower than that of the control group. Conclusion There is water pollution in the independent waterway of a periodontal ultrasound scaler. Three percent hydrogen peroxide and 500 mg/L chlorine disinfectant both have effective disinfection effects on the outlet water of scalers, and the effect of 500 mg/L chlorine disinfectant is better than that of 3% hydrogen peroxide. The use of 3% hydrogen peroxide to disinfect periodontal ultrasound scaler-independent waterways is recommended for disinfection every other day, and disinfection once a week is recommended for the use of 500 mg/L chlorine disinfectant.

Objective To investigate the clinical characteristics of 8 immunodeficiency cases caused by human recombination activating gene 1 (RAG1) mutations,and to explore the relationship among genotypes,clinical manifestations and immunophenotypes.Methods Clinical data were collected and analyzed from patients with RAG1 mutations who visited the Department of Clinical Immunology,Children's Hospital of Fudan University between October 2013 and June 2017.The data included clinical manifestations,immunophenotypes and genotypes.Results A total of 8 patients were diagnosed with RAG1 deficiency (6 boys and 2 girls).The minimum age of onset was 2 months,and the maximum age was 4 months.The minimum age of diagnosis was 2 months,and the maximum age was 13 years.Four patients had a family history of infant death due to severe infections.Two cases were born to the same consanguineous parents.All cases had recurrent infections,including involvement of respiratory tract (8 cases),digestive tract (6 cases),urinary tract (1 case),and central nervous system (1 case).The pathogens of infection included bacteria,viruses and fungi.Rotavirus was found in 3 cases,cytomegalovirus (CMV) in 5 cases,bacillus Calmette-Guérin adverse reaction in 2 cases (1 of whom had a positive acid-fast smear from lymph node puncture fluid),fungal infection in 3 cases.One case had multiple nodular space-occupying lesions in lungs and abdominal cavity complicated with multiple bone destruction.The peripheral blood lymphocyte counts of all patients ranged between 0.1 × 109/L and 3.3 × 109/L (median,0.65 × 109/L).Eosinophilia was found in 3 cases (range,(0.48-1.69) x 109/L).The patients were classified according to immunophenotype as severe combined immunodeficiency phenotype (4 cases),leaky severe combined immunodeficiency (2 cases),Omenn syndrome (1 case) and combined immunodeficiency(1 case).Decreased serum IgG levels were found in 3 cases,increased serum IgM levels in 3 cases,increased serum IgE levels in 5 cases.RAG1 homozygous mutations were detected in 5 cases and RAG1 compound heterozygous mutations in 3 cases.Two novel mutations and six previously reported mutations were identified.Three cases were successfully treated with hematopoietic stem cell transplantation.Four cases died due to infections,and the 13 year-old patient was still under follow-up in the outpatient clinic.Conclusions Different RAG1 gene mutations can lead to diverse clinical presentations and immune phenotypes.Clinicians should pay attention to the family history of infant death with severe infection.In that situation,immunological evaluation and gene detection should be performed as early as possible.

BACKGROUND:More recently, the focus has been on searching for a compound Chinese medicine for reinforcing kidney, which cannot only inhibit bone absorption, but also promote osteogenesis to protect against osteoporosis. OBJECTIVE:To explore effects of drug serum of Jianbuhuqian pil s on proliferation and function of osteoblast-like cel s in vitro. METHODS:Twenty-four adult female Sprague-Dawley rats were randomly divided into low-dose, medium-dose, high-dose and normal saline groups, and given intragastric administration of 1.5, 3.0, and 6 g/kg Jianbuhuqian pills and equal volume of normal saline, respectively twice daily for 1 week. At 1 hour after final gavage, rats were decapitated to prepare drug sera used for culturing osteoblast-like cells. At 24, 48 and 72 hours of culture, the cellular morphology was observed, as well as the cell proliferation and alkaline phosphatase activity was detected by MTT assay and alkaline phosphatase staining, respectively. RESULTS AND CONCLUSION:Compared with the normal saline group, the cel density began to increase significantly in three Jianbuhuqian groups at 24 hours after culture, mitotic figures were easy to be observed, cel s were in overlapping growth, much secretions and matrix accumulation appeared, especial y in the high-dose group. The obsorbance values in Jianbuhuqian groups were significantly higher than that in the normal saline group. After 24 hours of culture, the obsorbance values in the medium-dose and high-dose groups were significantly increased compared with the low-dose group, and the values showed significant differences among three Jianbuhuqian groups after 48 and 72-hour culture. In addition, the alkaline phosphatase activity presented overt increase in the Jianbuhuqian groups compared with the normal saline group, and significant differences could be found among Jianbuhuqian groups. To conclude, the drug serum of Jianbuhuqian pil s can promote the activity of osteoblast-like cel s in a time-and concentration-dependent manner.