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 To investigate the appropriate venous access for obese patients undergoing metabolic and bariatric surgery by comparing the clinical outcomes of different lengths of peripheral intravenous catheters.Methods Inpatients who underwent bariatric surgery in a tertiary hospital in Zhejiang from August 2022 to December 2022 were selected as the study population using a fixed-point continuous convenience sampling method.A stratified block randomisation method was used to divide the group into an experimental group 1(mini-midline catheters),an experimental group 2(midline catheters)and a control group(short peripheral intravenous catheters,Short PIVCs).The incidence of catheter-related complications,the rate of extubation due to complications,the duration of catheter retention,the time to first catheter-related complication were compared in the 3 groups.Results A total of 186 patients were included,with 62 patients in each group.The overall incidence of catheter-related complications in experimental group 1,experimental group 2,and control group were 25.81％,8.06％,and 58.06％.The extubation rates due to complications were 19.35％,4.84％,and 41.94％,and the duration of catheter retention was 7.00(6.00,7.00)d,7.00(6.00,7.00)d,6.00(3.00,6.25)d.The differences were statistically different(P＜0.05)when comparing the 3 groups.Among them,the differences in the overall incidence of catheter-related complications and the rate of extubation due to complications were statistically significant when comparing experimental group 1 with the control group,experimental group 2 with the control group,and experimental group 1 with experimental group 2(P＜0.017);the duration of catheter retention in both experimental group 1 and experimental group 2 were higher than it in the control group,and the differences were statistically different(P＜0.017).Conclusion The complication rate of mini-midline catheters and midline catheters is lower than that of short ones,and the indwelling time is consistent with the perioperative period of metabolic and bariatric surgery,which is suitable for use in patients undergoing metabolic and bariatric surgery.

Objective To compare the effects of mini-midline catheters that were placed in different sites.Methods The inpatients of a tertiary general hospital in Zhejiang Province from October 2023 to January 2024 were selected as the study subjects using a fixed point continuous convenience sampling method.The patients were divided into 2 groups by simple random grouping method.The experimental group had a mini-midline catheter placed in the upper arm,and the control group had a mini-midline catheter placed in the forearm.The incidence of catheter-related complications,the puncture success rate with one-attempt,the total procedure time,the time of the first occurrence of catheter-related complications,the rate of removal due to complications,and the indwelling catheter duration were compared between the 2 groups.Results A total of 121 patients were included,including 64 in the experimental group and 57 in the control group.The incidence rates of catheter-related complications in the experimental group and the control group were 29.69％and 66.67％;the times of the first occurrence of catheter-related complications were 167(122,220)h and 104(73,168)h;the rates of removal due to complications were 17.19％and 42.11％;the indwelling catheter duration was 171(124,258)h and 120(92,187)h;the differences between the 2 groups of these outcomes were statistically significant(P＜0.05).The puncture success rates with one-attempt in the experimental group and the control group were 96.88％and 96.49％;the total procedure times were 352(296,446)s and 370(295,430)s;the differences between the 2 groups of these outcomes were not statistically significant(P＞0.05).Conclusion Mini-midline catheters inserted in the upper arm can reduce the incidence of catheter complications and the rate of removal due to complications,prolong the time of the first occurrence of catheter-related complications and the indwelling catheter duration.

Objective:To construct an evaluation framework with detailed indices for demonstration units (wards) of enteral nutrition nursing, in order to improve the competence of nurses in enteral nutrition nursing and inform the specialized development of enteral nutrition demonstration units (wards).Method:On the basis of literature review and expert discussion, a preliminary draft was developed, and the Delphi expert consultation method was used to conduct two rounds of consultation with 15 clinical experts in the field of enteral nutrition nursing from 15 tertiary hospitals.Results:The effective response rates of questionnaires in two rounds of consultations were both 100%. The first round of expert consultation showed an authority coefficient of 0.90 and a coefficient of variation of 0 to 0.167, while the second round showed an authority coefficient of 0.93 and a coefficient of variation of 0 to 0.113. The Kendall harmony coefficients were 0.338 and 0.368, respectively. Finally, the evaluation framework with detailed indices for the demonstration unit (ward) of enteral nutrition nursing was formed, which consisted of 3 primary indicators, 16 secondary indicators, 54 tertiary indicators, and 62 detailed items.Conclusions:The evaluation framework we developed for the demonstration unit of enteral nutrition nursing follows the diagnosis and treatment process of enteral nutrition management for inpatients, including the triad of structure, process, and outcome. The framework is objective and practical, and can inform the daily practice of enteral nutrition nursing demonstration units (wards) and the development of enteral nutrition nursing specialties.

Objective:To understand the nutritional nursing competence in the enteral nutrition demonstration wards at this stage, so as to inform subsequent training plan.Methods:From September to October in 2023, nurses from 287 institutions involved in the enteral nutrition demonstration ward construction project were selected using convenience sampling. Questionnaires on general characteristics and self-assessment scale on nutrition nursing competence were used for online survey. The status quo and influencing factors of nutrition nursing competence in included institutions were analyzed.Results:A total of 5 409 valid questionnaires were collected, with a response rate of 62.63%. The total score of nutrition nursing competence was 74.74±16.11, with the least subtotals in the domain of nutrtion knowledge. Multiple linear regression showed that influencing factors of nutrition nursing competence includes years of working, department, registered dietitian or not, nutrition management specialist or not, completion of the curriculum in enteral nutrition demonstration ward construction project, and training/supervision arranged by their department concerning nutrtion nursing and relevant evaluation criteria ( P<0.05). Conclusions:The nutritional nursing competence of clinical nurses in the wards involved in enteral nutrition demonstration ward construction project still needs to be improved. Seniors should take into consideration the varying nutritional nursing competence among junior nurses and nurses from different departments, and strengthen the training on nutrition knowledge. It should be encouraged for nurses to actively participate in nutritionist training. Actions including enhancing nutrition specialist training, establishing the multidisciplinary collaborative nutrition care team and conducting regular supervision and assessment should be implemented in the future, to improve the nutritional nursing competence among nurses.

Objective:To investigate the stability of fat emulsions after the preparation of parenteral nutrient solution under different storage conditions.Methods:Standardized parenteral nutrient solution was used to prepare a total of 24 bags of nutrient solution with the same formula, except for that Group A (12 bags) contains 20% of medium and long chain fat emulsion (C6-24) while Group B contains 20% of C8-24. The preparations were stored under 2-8℃, 23-25℃, and 35-37℃ and were examined at 24h, 48h and 72h after preparation. The appearance, average size of fat particles, pH value of nutrient solution, and lipid peroxidation were investigated.Results:After storage at 4℃, 25℃ and 36℃ for 24h, 48h and 72h respectively, both groups of preparations showed no obvious change in appearance. There was no significant difference in pH ( P>0.05) nor lipid peroxidation ( P>0.05). Conclusion:Both kinds of fat emulsion are stable in terms of pH value, fat particle size and lipid peroxidation, and can be used for patients receiving intravenous nutrition support.

Objective:To explore the clinical characteristics, possible causes and treatment methods of anaphylactoid reactions related to PICC catheterization.Methods:A retrospective analysis of the data of 27 patients with anaphylactoid reactions in 3 933 PICC catheters from October 2018 to February 2020.Results:The incidence of anaphylactoid reactions was 0.69%(27/3 933), its clinical symptoms were mainly skin reactions, some of which were complicated with respiratory, digestive, cardiovascular system and other symptoms. There was no difference in the incidence of different genders, diagnosis, and history of allergy ( χ2 value was 2.233, 0.839, 0.027, P>0.05). The incidence of patients younger than 60 years old was higher than that of patients older than 60 ( χ2 value was 12.821, P<0.01); the incidence of two catheters with different coatings was higher than that of uncoated catheters ( χ2 value was 27.195, 84.203, P<0.01). Twenty six patients continued the catheterization after the symptoms relieved, and one patient stopped the catheterization. Conclusion:The incidence of anaphylactoid reactions related to PICC, which is more common in catheters or the stylet wire is coated. It is recommended to use a large amount of saline to flush the catheter to reduce or avoid coating materials into the blood, so as to effectively control the occurrence and severity of such complications.

Objective To explore the correlation of stage early upright mobilization in critical patients and enteral nutrition- related tolerance. Methods A total of 50 critically patients with continuous enteral nutrition who admitted in ICU from October 2016 to July 2017 were randomized into two groups;the control group (receiving routine functional exercise in bed) and the observation group (stage early upright mobilization)25 cases in each group,the correlation of nutrition-related tolerance,the length of target feeding time and incidence of catheter related adverse events were compared. Results There was no statistically significant difference in the incidence of reflux of stomach,aspiration,diarrhea and catheter related adverse events in this two group patients during enteral nutrition(P>0.05),while the times of interrupting enteral nutrition in the observation group(0)was lower than that of the control group (20.83%,5/24),with a statistically significant difference(χ2=4.922,P=0.035).The length of target feeding time was shortened, (3.04 ± 0.66) d in the control group, (3.57 ± 0.83) d in the observation group,with a statistically significant difference(t=2.409,P=0.025). Conclusions Stage early upright mobilization in critical patients is safe and feasible,it can improve the feeding tolerance and shorten the length of target feeding time to promote the early recovery of the patient's disease.

Objective To compare the consistency of the results of clinical specimens between Tecan Freedom Evolyzer-2200 automated enzyme immunoassay analyzer and manual ELISA method,so as to explore more scientific and reliable test method.Methods Ninety samples were randomly selected from clinical and physical examination,the IMARK2 microplate reader and the instrument operating manual sample measurement was used to test hepatitis A,hepatitis B 5,hepatitis C,hepatitis E 2,TP and HIV,and the results were given correlation and linear regression analysis.Results For the test items of HBsAg,HBsAb,HBeAg,TP,HIV,the correlation coefficient was r2＞ 0.9,the data showed a good correlation,and for HAV-IgM,HBeAb,HBcAb,HCV,HEV-IgM,HEV-IgG,the correlation coefficient was 0.9＞ r 2 ＞ 0.6.Compared with manual method,the total coincidence rate of automated enzyme immunoassay analyzer was 96.9％ in 11 indexes of 90 samples.Conclusions Automatic and manual ELISA method has a good correlation.Automatic ELISA also greatly reduce the labor burden of laboratory personnel,improve efficiency,should be strengthened in clinical practice.

Objective To analyze the association between the polymorphism of 5509-5511delCAA in exon4 of Tim-1 gene and the susceptibility to rheumatoid arthritis(RA)in a group of Han population from Yunnan province.Methods The PCR-DNA se-quencing analysis was used to detect the polymorphism of 5509-5511delCAA in exon4 of Tim-1 gene in 196 RA Han nationality pa-tients and 190 individuals of healthy physical examination(control).The ELISA method and indirect immunofluorescence assay was adopted to detect the three related aotuantibodies of RA,including the rheumatoid factors(RF)and the anti-cyclic citrullinated pep-tide(Anti-CCP)and the anti-keratin antibodies(AKA).Results There were statistically significant differences in genotype and al-lele frequency of 5509-5511delCAA between the RA group and the control group(P <0.05);the positive rate of RF and the anti-CCP between different genotypes of 5509-5511delCAA in the RA group had no statistically significant differences(P >0.05 ),but the positive rate of AKA between different genotypes of 5509-5511delCAA in the RA group had statistically significant differences (P <0.05).Conclusion The 5509-5511delCAA site of Tim-1 exon4 has the polymorphic variation,the 5509-5511delCAA genotype maybe related with the genetic susceptibility to RA in Han population of Yunnan province,the different genotypes does not affect the expression of RF and the anti-CCP,but affects the expression of AKA.