This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Objective:The evidence on the use of bedside ultrasound to assess muscle mass in critically ill adults was retrieved and screened, and the best evidence was summarized.Methods:A computer search was conducted for relevant literature on ultrasound measurement of muscle mass in critically ill adults in domestic and foreign databases such as BMJ Best Clinical Practice, UpToDate, PubMed, CNKI, and guide website and professional association website. The search time limit was from the establishment of the database to August 30, 2023. Literature quality was evaluated by four researchers trained in systematic evidence-based courses according to literature type.Results:A total of 15 literatures were included, including 2 guideline, 4 expert consensus, 5 systematic reviews and 4 randomized controlled studies. A total of 22 pieces of evidence were summarized, including 6 aspects: position and patient preparation, feasibility of implementation by nursing staff, selection of probe and matters needing attention, muscle positioning, evaluation of muscle structure by ultrasound and the guiding significance of ultrasound evaluation of muscle mass.Conclusions:The best evidence summary of bedside ultrasound assessment of muscle mass in critically ill adults summarized in this study is scientific and systematic, and provides evidence-based basis for establishing standardized ultrasound assessment procedures in clinic.

The idiopathic inflammatory myopathies encompass a diverse array of autoimmune diseases,characterized by muscular inflammation and various extramuscular manifestations.These conditions have the poten-tial to impact multiple organs,including the lungs,skin,joints,gastrointestinal tract,and heart.The defining features of these conditions are muscle weakness and myalgia.Although cardiac involvement is infrequent,its clinical manifestations are subtle and easily overlooked.Cardiac damage represents a significant contributor to mortality and morbidity in patients with idiopathic inflammatory myopathy.Early and accurate identification of cardiac involve-ment may facilitate improved patient outcomes.This article provides an overview of the potential etiology,clinical presentations,risk factors,biomarkers,and imaging studies for early diagnosis of cardiac involvement in idio-pathic inflammatory myopathy.This review aims to enhance clinicians'understanding and diagnostic capabilities re-garding cardiac involvement in idiopathic inflammatory myopathy while promoting early intervention strategies for lifelong management and improved prognosis.

A clinically serious illness with a high death and morbidity rate is sepsis.Electro-acupuncture is a significant adjuvant treatment for sepsis,lowering the inflammatory response to sepsis,regulating the patient's immunological function,and preventing multi-system organ damage.However,no comprehensive study has been published.In order to review the clinical application of electro-acupuncture in the field of sepsis and its complications,analyze its clinical efficacy,and summarize effective acupuncture point prescriptions,we systematically compiled the clinical research literature on electro-acupuncture in the treatment of sepsis and its complications by searching PubMed,CNKI,and other databases.It was found that effective clinical evidence had been gathered for the administration of electro-acupuncture in uncomplicated sepsis as well as in sepsis aggravated by gastrointestinal,pulmonary,cardiac,and brain injury.The following successful acupoint prescriptions were indicated:①Simple sepsis was treated with"Zusanli+Guanyuan"or"Zusanli+Tianshu+Shangjuxu+Xiajuxu";②Combined gastrointestinal injury was treated with"Zusanli+Shangjuxu+Tianshu"or"Zusanli+Tianshu+Shangjuxu+Xiajuxu";③ Combined lung injury was treated with"Zusanli+Chize";④Combined myocardial injury was treated with"Neiguan+Zusanli+Shenmen+Taichong+Xuehai+Geshu+Sanyinjiao+Hegu";⑤Combined brain injury was treated with"Baihui+Shuigou".The study's findings can offer preliminary clinical direction for using electro-acupuncture to treat sepsis and associated complications in patients.

To explore the application value of SAA (serum amyloid A), CRP (C reactive protein), PCT (procalcitonin), WBC (white blood cell) and N% (neutrophil %) in the diagnosis of neonatal septicemia. This study was a retrospective study. 173 children with clinically diagnosed septicemia and 66 children with definitely diagnosed septicemia admitted to the Department of Neonatology, the Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China,from January 2022 to January 2024 were selected as the case group, and 148 children with neonatal jaundice who were hospitalized during the same period were selected as the control group. Fasting venous blood was collected within 24 hours after the children′s admission to detect the levels of serum WBC, N%, SAA, CRP and PCT. One-way analysis of variance and Kruskal-Wallis H test were used to compare the general data and inflammatory index levels of the three groups of children. The correlation analysis between SAA and other inflammatory indicators was conducted using Spearman correlation analysis. The receiver operating characteristic (ROC) curve was used to determine the diagnostic efficacy of different inflammatory indicators for patients with definitely diagnosed septicemia and those with clinically diagnosed septicemia, and for those with clinically diagnosed septicemia and those without infection. The results showed that the levels of WBC [(16.88±5.64)×10 9/L], N% [70.00 (63.00, 75.00)], PCT [2.22 (1.20, 5.55) mg/L], CRP [3.00 (0.50, 10.30) mg/L], SAA [19.70 (10.82, 49.90) mg/L] in the clinically diagnosed septicemia group and WBC [(16.10±7.48)×10 9/L], N% [73.50 (61.50, 80.93)], PCT [5.35 (0.69, 20.07) mg/L], CRP [15.52 (4.98, 30.50) mg/L], SAA [43.95 (14.00, 175.98) mg/L] in the definitely diagnosed septicemia group were all higher than those in the control group (11.17±3.38)×10 9/L, 49.81 (36.93, 62.75), 0.20 (0.07, 0.99) mg/L, 0.54 (0.20, 1.40) mg/L, 5.15 (3.60, 8.68) mg/L, and the differences were all statistically significant (all P<0.05). Spearman correlation analysis showed that the level of SAA was positively correlated with WBC, N%, PCT and CRP ( rs=0.453, 0.540, 0.343, 0.550, all P<0.05). ROC curve analysis showed that the area under ROC curve(AUC) of SAA for the definitely diagnosed septicemia group and the clinically diagnosed septicemia group was higher than that of other inflammatory indicators, among them, the AUC of SAA for diagnosing the definitely diagnosed neonatal septicemia group was 0.933 (95% CI: 0.809-1.000, P<0.05), with a sensitivity of 92.90% and a specificity of 99.30%. The AUC of SAA for diagnosing the clinically diagnosed septicemia group was 0.861 (95% CI: 0.818-0.904, P<0.05), with a sensitivity of 83.20% and a specificity of 81.80%. In conclusion, compared with CRP, PCT, WBC and N%, SAA has higher sensitivity and specificity for distinguishing neonatal septicemia (including definitely diagnosed septicemia and clinically diagnosed septicemia), and has certain auxiliary diagnostic value for neonatal septicemia.

To explore the application value of SAA (serum amyloid A), CRP (C reactive protein), PCT (procalcitonin), WBC (white blood cell) and N% (neutrophil %) in the diagnosis of neonatal septicemia. This study was a retrospective study. 173 children with clinically diagnosed septicemia and 66 children with definitely diagnosed septicemia admitted to the Department of Neonatology, the Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China,from January 2022 to January 2024 were selected as the case group, and 148 children with neonatal jaundice who were hospitalized during the same period were selected as the control group. Fasting venous blood was collected within 24 hours after the children′s admission to detect the levels of serum WBC, N%, SAA, CRP and PCT. One-way analysis of variance and Kruskal-Wallis H test were used to compare the general data and inflammatory index levels of the three groups of children. The correlation analysis between SAA and other inflammatory indicators was conducted using Spearman correlation analysis. The receiver operating characteristic (ROC) curve was used to determine the diagnostic efficacy of different inflammatory indicators for patients with definitely diagnosed septicemia and those with clinically diagnosed septicemia, and for those with clinically diagnosed septicemia and those without infection. The results showed that the levels of WBC [(16.88±5.64)×10 9/L], N% [70.00 (63.00, 75.00)], PCT [2.22 (1.20, 5.55) mg/L], CRP [3.00 (0.50, 10.30) mg/L], SAA [19.70 (10.82, 49.90) mg/L] in the clinically diagnosed septicemia group and WBC [(16.10±7.48)×10 9/L], N% [73.50 (61.50, 80.93)], PCT [5.35 (0.69, 20.07) mg/L], CRP [15.52 (4.98, 30.50) mg/L], SAA [43.95 (14.00, 175.98) mg/L] in the definitely diagnosed septicemia group were all higher than those in the control group (11.17±3.38)×10 9/L, 49.81 (36.93, 62.75), 0.20 (0.07, 0.99) mg/L, 0.54 (0.20, 1.40) mg/L, 5.15 (3.60, 8.68) mg/L, and the differences were all statistically significant (all P<0.05). Spearman correlation analysis showed that the level of SAA was positively correlated with WBC, N%, PCT and CRP ( rs=0.453, 0.540, 0.343, 0.550, all P<0.05). ROC curve analysis showed that the area under ROC curve(AUC) of SAA for the definitely diagnosed septicemia group and the clinically diagnosed septicemia group was higher than that of other inflammatory indicators, among them, the AUC of SAA for diagnosing the definitely diagnosed neonatal septicemia group was 0.933 (95% CI: 0.809-1.000, P<0.05), with a sensitivity of 92.90% and a specificity of 99.30%. The AUC of SAA for diagnosing the clinically diagnosed septicemia group was 0.861 (95% CI: 0.818-0.904, P<0.05), with a sensitivity of 83.20% and a specificity of 81.80%. In conclusion, compared with CRP, PCT, WBC and N%, SAA has higher sensitivity and specificity for distinguishing neonatal septicemia (including definitely diagnosed septicemia and clinically diagnosed septicemia), and has certain auxiliary diagnostic value for neonatal septicemia.

Objective Using event-related potentials(ERPs),to study the effect and mechanism of negative emotion accumulation hepatic insufficiency on working memory in normal people.Methods Fifty subjects in each of the emotionally stable group and emotionally unstable group were given two load tasks(0-back and 1-back)in the N-back paradigm,the reaction time and correct rate were recorded,and the ERPs components N200 and P300 were detected.The latency and amplitude of P300 were analyzed statistically.Results ①Compared with the emotionally stable group,the emotionally unstable group had a longer reaction time(P<0.05).②Compared with the emotionally stable group,the subjects in the emotionally unstable group had prolonged N200 latency,decreased P300 amplitude significantly(P<0.05),and P300 latency had a tendency to extend(P<0.1).Conclusion Long-term accumulation of negative emotions and liver failure in normal people have the performance of decreased working memory,which may be related to the reduction of attention resource allocation and the impairment of cognitive processing function.

OBJECTIVE: To compare the parental acceptance of dental treatment under general anesthesia and deep sedation in children and assess the changes in postoperative oral health-related quality of life and treatment efficacy. METHODS: The parents of 131 children undergoing dental treatment in the Department of Stomatology of Sichuan Provincial People's Hospital from January, 2022 to June, 2022 were surveyed using a questionnaire of children's advanced oral behavior management, and 83 children receiving general anesthesia or deep sedation for dental treatment between January, 2018 and December, 2021 were also investigated for changes in quality of life after the treatment using a questionnaire. The treatment efficacy was assessed at the 1-year follow-up visit in 149 children who received dental treatment under general anesthesia or deep sedation during the same period. RESULTS: The survey of perantal acceptance showed that 62.6% of the parents preferred deep sedation, 29.01% preferred general anesthesia, and 8.4% preferred compulsory treatment. Dental treatments under general anesthesia and deep sedation both significantly improved oral health-related quality of life of the children. While dental surgeries under general anesthesia resulted in the most significant improvement of pain symptoms, deep sedation was associated with both obvious relief of the children's pain symptoms and reduction of the parents' pressure level. No significant difference was found in the efficacy of treatments under general anesthesia and deep sedation at the 1-year follow-up. CONCLUSION Dental treatment in children under deep sedation has the highest parental acceptance, followed by treatment under general anesthesia, and the acceptance of compulsory treatment is the lowest. The treatments under general anesthesia and deep sedation significantly improve the quality of life of the children and their parents and both have good treatment efficacy.
Humans ; Child ; Quality of Life ; Deep Sedation ; Child Behavior ; Treatment Outcome ; Anesthesia, General ; Parents ; Pain ; Dental Care ; Dental Caries

Objective:Analysis of influencing factors of enteral nutrition interruption in critically ill patients in general surgery department and its impact on prognosis.Methods:A total of 91 cases of critically ill patients in general surgery department were selected who were admitted to the general surgery of General Hospital of Eastern Theater Command of the Chinese People′s Liberation Army in Nanjing from June 2021 to March 2022 by convenient sampling method, demographic and enteral nutrition interruption data were collected,and patients were divided into enteral nutrition interruption group and enteral nutrition uninterrupted group to investigate the analysis of the factors of affecting enteral nutrition interruption and its impact on prognosis by Logistic regression analysis.Results:There were 59 cases in the enteral nutrition interruption group and 32 cases in the enteral nutrition uninterrupted group. There were statistically significant differences in gender, analgesic and sedatives, Gastro-kinetic agent and feeding intolerance between both groups ( χ2 values were 4.51-9.97, all P<0.05). Logistic regression analysis results showed that gender ( OR=4.566, 95%CI 1.332-15.657, P<0.05), analgesic and sedatives ( OR=3.437, 95%CI 1.112-10.621, P<0.05), and feeding intolerance ( OR=4.116, 95%CI 1.257-13.479, P<0.05) were the factors of enteral nutrition interruption. There were statistically significant differences between the two groups in the number of days of enteral nutrition up to goal in 3 days, 3-7 days and 7 days, albumin,length of stay in intensive care unit, total length of stay and hospitalization expenses between both groups ( Z values were -2.80 - -0.73, all P<0.05). Conclusions:Female, analgesic and sedatives and feeding intolerance are the risk factors of enteral nutrition interruption in critically ill patients in general surgery department, and enteral nutrition interruption has an adverse impact on the prognosis.Medical staff should avoid excessive use of analgesic and sedatives, and do well in feeding tolerance management to reduce the occurrence of enteral nutrition interruption.

The skin manifestations of monoclonal(M)-proteinemia are rare and present in patients with monoclonal gammopathy of undetermined significance (MGUS), smoldering plasma cell myeloma (SMM) and multiple myeloma (MM). In this study, we reported 4 cases with M-proteinemia-related rare skin lesions, including pyoderma gangrenosum (PG), erythema elevatum diutinum (EED), cutis laxa (CL) and lichen myxedematosus(LM). These skin lesions are specific, where the potential mechanism was immune-mediated paraneoplastic syndrome rather than direct plasma cell infiltration. Anti-plasma cell treatment was effective in treating skin lesions. The clinical outcome of MM-related skin changes was correlated to tumor control, whereas the prognosis of MGUS or SMM related skin lesions was favorable. Skin involvement in M-proteinemia is extremely rare and less well-known, which greatly impairs quality of life. The diagnosis and treatment of these 4 cases support the need for futher study.