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 outcomes of periacetabular osteotomy (PAO) through modified Smith-Petersen or Bikini approach with an auxiliary posterolateral incision for developmental dysplasia of hip (DDH).Methods:85 patients (97 hips) who underwent PAO through modified Smith-Petersen or Bikini approach with auxiliary posterolateral incision for DDH in the 920th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army or the Second Xiangya Hospital of Central South University from January 2016 to January 2021 were retrospectively analyzed. There were 70 females and 15 males, with an average age of 28.6±8.4 years (12-49). According to the Hartofilakidis classification, all patients were classified as type Ⅰ. There were 77 hips classified as Grade 0 and 20 hips classified as Grade 1 according to the T?nnis classification. The X-ray evaluation including the lateral central edge angle (LCEA), t?nnis angle (TNS) and anterior central edge angle (ACEA), visual analogue score (VAS) and modified Harries hip score (mHHS) were recorded preoperatively and during each postoperative follow-up. The cumulative sum (CUSUM) method was used to fit the learning curves of operation time.Results:All patients were followed-up with an average of 52.7±18.9 months (21 to 84). The average operative time and intraoperative blood loss were 95.9±28.2 min (65 to 215) and 414.7±97.0 ml (250 to 900), respectively. The learning curve of operation time was 10 cases. The average LCEA 32.39° (30.29°, 34.92°), TNS 3.14° (1.56°, 5.67°) and ACEA 31.55° (29.07°, 33.88°) were all significantly improved compared to preoperative values ( Z=-30.764, P<0.001; Z=30.595, P<0.001; Z=-38.134, P<0.001). The average VAS was reduced from 5.18±0.88 points preoperatively to 1.27±0.93 points postoperatively with significant difference ( t=51.231, P<0.001). The average mHHS was increased from 73.12±9.17 to 92.02±4.05 postoperatively with significant difference ( t=-26.902, P<0.001). No patients received total hip arthroplasty during the follow-up period. Conclusion:Bernese PAO through modified Smith-Petersen or Bikini approach with a small auxiliary posterolateral incision was not only a safe and effective method for the treatment of DDH but also shortened the learning curve and reduced difficulty of the surgery.

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:To investigate gender differences in arterial velocity pulse index(AVI), which is an indicator of vascular stiffness, across various age groups.Additionally, the study will also examine the risk factors associated with AVI.Methods:This cross-sectional study enrolled 4311 patients with an average age of 57.8±12.8 years at Jiading Branch of Shanghai First People's Hospital between August 2020 and September 2021.Patients were divided into three groups based on age: young(<45 years old, n=755), middle-aged(45-59 years old, n=1260), and elderly(≥60 years old, n=2 296). The AVI of the subject was obtained using the cuff oscillation wave method.The subject's AVI was acquired using the cuff oscillation wave.High AVI, indicating arteriosclerosis, was defined as AVI≥33.The subjects were then divided into two groups: the high AVI group(122 cases)and the normal AVI group(4 189 cases).Results:The ankle-brachial index(AVI)was found to be 12.8±3.7, 17.5±5.7, and 19.8±6.5 in the young, middle-aged, and elderly groups, respectively.The study revealed that AVI increased with age( Ftrend=767.819, P<0.01). Additionally, the incidence of high AVI in middle-aged women was found to be(2.8% or 20/722), which was higher than that in men 0.9%(5/538)in the same age group.This difference was statistically significant( χ2=5.371, P<0.05). The results of the multivariate logistic regression analysis indicate that being overweight, having a higher height, and a pulse rate greater than 80 BPM are protective factors in preventing a high incidence of AVI.The odds ratios( OR)with 95% confidence intervals( CI)for these factors were 0.468(0.317-0.690), 0.926(0.895-0.958), and 0.143(1.026-2.432), respectively, all with a P-value less than 0.01.On the other hand, old age, systolic blood pressure of 140 mmHg or higher, and diastolic blood pressure of 90 mmHg or higher were identified as risk factors for AVI.The ORs with 95% CIs for these factors were 2.119(1.322-3.396), 6.652(4.136-10.699), and 1.580(1.026-2.432), respectively, all with a P- value less than 0.05l. Conclusions:Arterial stiffness, as measured by the ankle-brachial index(ABI), tends to increase with age.In middle-aged subjects, women have a higher incidence of high ABI than men.Independent risk factors for high ABI include age and increased blood pressure, while factors such as overweight and height may affect the measured value of ABI.

Objective:To investigate the clinical application of multi-oil fat emulsion (SMOF) in preterm infants with necrotizing enterocolitis (NEC).Methods:Preterm infants with NEC admitted to the Neonatal Intensive Care Unit in our hospital between January 2017 and December 2022 were retrospectively included. According to the type of fat emulsion used, they were divided into SMOF group and medium and long chain triglycerides (MCT/LCT) group. The data of two groups were compared and analyzed.Results:A total of 69 preterm infants were included, 34 in the SMOF group and 35 in the MCT/LCT group. There were no significant differences between the two groups in the levels of total bilirubin, indirect bilirubin, direct bilirubin, bile acid and γ-glutamyl transferase ( P>0.05). There were no significant differences between the two groups in triglyceride, low density lipoprotein and total cholesterol ( P>0.05). There were no significant differences between the two groups in the C reactive protein level, procalcitonin level, and the time to normal C reactive protein ( P>0.05). There were no significant differences in incidence of complications between the two groups, including parenteral nutrition-related cholestasis, bronchopulmonary dysplasia, retinopathy of prematurity, and brain injury ( P>0.05). Conclusions:Compared with MCT/LCT, the application of SMOF did not show significant effect on liver function, inflammation, or incidence of complications (parenteral nutrition-related cholestasis, bronchopulmonary dysplasia and retinopathy of prematurity) in preterm infants with NEC. Multi-center studies with larger sample size are needed for further investigation.

Objective:To investigate the repair effect of amphiregulin (Areg) on injured lung tissue in mice with acute respiratory distress syndrome (ARDS) and its underlying mechanism.Methods:The ARDS mouse model was made by tracheal infusion of lipopolysaccharide (LPS), and bronchoalveolar lavage fluid (BALF) was extracted for 7 consecutive days. Adult male C57BL/6 mice were randomly (random number) divided into 5 groups ( n=4 per group): (1) Control group; (2) Areg group: mice were treated intraperitoneally (i.p.) with recombinant Areg; (3) LPS+PBS group; (4) LPS+Areg group; and (5) LPS+Anti-Areg group; mice were instilled with LPS, then were injected i.p. with PBS, Areg or Areg neutralization antibody (Anti-Areg) 30 min later. Lung tissue and BALF were extracted at day 1, 3, 5 and 7 after ARDS. HE staining was used to evaluate the pathological changes of lung tissues. The total protein content in BALF was detected by BCA method, and the concentrations of tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), IL-1β and immunoglobulin M (IgM) were determined by ELISA method. The phosphorylated levels of epidermal growth factor receptor (EGFR) and expressions of proliferating cell nuclear antigen (PCNA) and surface proteins-C (SP-C) were tested by Western blot. The immunofluorescence was used to detect the co-expression of PCNA and SP-C in lung tissues. One-way analysis of variance was used to compare the mean values of normally distributed measurement data between groups. Comparisons between groups were performed using the least significant difference t-test. Results:Compared with that at before modeling [(51.05±2.47) pg/mL], Areg concentrations were increased significantly at day 1 [(71.97±6.51) pg/mL; P<0.01] and day 3 [(147.58±7.56) pg/mL, P<0.01] in the BALF after ARDS. At day 1 after ARDS, there were significant interstitial edema, neutrophil infiltration and alveolar collapse in the LPS+PBS group and LPS+Areg group. Compared with the LPS+PBS group at day 3, 5 and 7, the pathological changes of lung tissues were notably improved in the LPS+Areg group, while were more serious in the LPS+Anti-Areg group. Compared with the control group, the LPS+PBS group had higher levels of neutrophil number, total protein, IgM, TNF-α, IL-1β, and IL-6. However, Areg treatment significantly reduced the levels of these indicators. Moreover, the expressions of PCNA (1.34±0.10), SP-C (1.48±0.10) and p-EGFR (0.92±0.032) in the LPS+Areg group were significantly up-regulated compared with those in the LPS+PBS group (0.88±0.03, 1.06±0.15, and 0.68±0.03, all P<0.01). And compared with the LPS+PBS group, PCNA and SP-C double positive cells were significantly increased in the LPS+Areg group, but decreased in the LPS+Anti-Areg group. Conclusions:Areg enhances the proliferation of alveolar typeⅡ epithelial cells by activating EGFR pathway, therefore promotes the repair of lung tissues during ARDS development.

Objective:To investigate the association between serum thyroid level and prognosis of critically ill children with euthyroid sick syndrome(ESS).Methods:The clinical data and serum thyroid hormone levels of 176 children with ESS who were admitted to the Department of Pediatric Intensive Care Medicine at West China Second Hospital of Sichuan University from January 2015 to April 2021 were retrospectively collected.According to the prognosis, the children were divided into improved group and invalid group, as well as basic disease group and non basic disease group, and the differences of thyroid hormone between two groups were compared.The pediatric risk of mortality Ⅲ(PRISMⅢ) scores within 24 hours of admission were assessed, and the correlation between thyroid hormone level and PRISMⅢ score was analyzed.Results:Among 176 critically ill children with ESS, the most common diseases were sepsis(31.8%), severe pneumonia (23.8%) and heart failure(10.7%), respectively.The levels of free T3(FT3), T3, free T4(FT4) and T4 in invalid group were significantly lower than those in improved group ( P<0.05), but there was no statistical difference in thyroid-stimulating hormone(TSH) level between two groups( P>0.05). The levels of FT3, T3, FT4 and T4 were negatively correlated with PRISMⅢ score( r=-0.419, -0.459, -0.341, -0.383, respectively, P<0.05), and there was no correlation between TSH level and PRISMⅢ score ( P>0.05). The common underlying diseases of severe children with ESS were malnutrition(31/98), heart disease(30/98), hematologic neoplasms(15/98), and bronchopulmonary dysplasia(10/98). The median age of children in basic disease group was younger than that in non-basic disease group(0.7 years old vs. 2.0 years old, P<0.05); The proportion of children with underlying diseases in invalid group was 24.5%, which was significantly higher than that of children without underlying diseases (6.4%), and the difference was statistically significant ( P<0.05); There were no significant differences in the levels of FT3, T3, FT4, T4 and TSH between two groups ( P>0.05). Conclusion:In critically ill children, a variety of diseases can lead to ESS, and sepsis is the most common disease.Young children with underlying diseases should be more alert to ESS.The more severe the disease, the greater the decline of FT3, T3, FT4 and T4 levels.When low T3, T4 and TSH occur simultaneously, the prognosis of the children may be worse.Thyroid hormone level could be used as an indicator to evaluate the prognosis of critically ill children, which is needed further studies to explore.

Objective To detect the viscoelasticity of carotid artery in healthy volunteers using ultrasonic shear wave dispersion ( SWD ) technique ,and explore the feasibility and influencing factors for SWD parameters . Methods Forty‐five healthy volunteers were recruited and divided into elder group ( ≥50 years old) and younger group ( ＜50 years old) according to the age . T he carotid arteries were examined by SWD at systole ,axial elastic modulus ( SWER ) and viscous index ( SWDR ) were obtained . T he pulse wave velocity ( PWV ) ,a carotid artery circumferential elastic parameter was obtained and considered as the reference indicator . T he difference of SWE R ,SWDR and PWV were compared between two groups ; and the correlation between them were analyzed by Pearson analysis ,respectively . Results ① Compared with the younger group ,the carotid PWV increased ,w hile SWE R and SWDR decreased in the elder group ( all P ＜0 .05) . ②In all subjects ,SWER was negatively correlated with PWV ( r ＝ －0 .256 , P ＜ 0 .05 ) . In the elder group ,SWER was negatively correlated with systolic blood pressure ( r ＝ －0 .357 , P ＜ 0 .05 ) ,and SWDR was negatively correlated with PWV ( r ＝ －0 .393 , P ＜0 .05 ) . In the younger group ,SWDR was positively correlated with systolic blood pressure ( r ＝0 .366 , P ＜0 .05) . Conclusions Compared with the elder group ,the carotid viscoelasticity was higher in young people ,and it is correlated with PWV . SWD can evaluate carotid viscoelasticity ,and contribute to better understanding of its tissue characteristics .

Objective: To detect the viscoelasticity of carotid artery in healthy volunteers using ultrasonic shear wave dispersion (SWD) technique, and explore the feasibility and influencing factors for SWD parameters. Methods: Forty-five healthy volunteers were recruited and divided into elder group (≥50 years old) and younger group (<50 years old) according to the age. The carotid arteries were examined by SWD at systole, axial elastic modulus (SWE_R) and viscous index (SWD_R) were obtained. The pulse wave velocity (PWV), a carotid artery circumferential elastic parameter was obtained and considered as the reference indicator. The difference of SWE_R, SWD_R and PWV were compared between two groups; and the correlation between them were analyzed by Pearson analysis, respectively. Results: ①Compared with the younger group, the carotid PWV increased, while SWE_R and SWD_R decreased in the elder group(all P<0.05). ②In all subjects, SWE_R was negatively correlated with PWV (r=-0.256, P<0.05). In the elder group, SWE_R was negatively correlated with systolic blood pressure (r=-0.357, P<0.05), and SWD_R was negatively correlated with PWV (r=-0.393, P<0.05). In the younger group, SWD_R was positively correlated with systolic blood pressure (r=0.366, P<0.05). Conclusions Compared with the elder group, the carotid viscoelasticity was higher in young people, and it is correlated with PWV. SWD can evaluate carotid viscoelasticity, and contribute to better understanding of its tissue characteristics.

Objective: To observe the feasibility of ultrasound shear wave dispersion imaging (USWD) in evaluating carotid viscoelasticity. Methods: Totally 45 volunteers were recruited and divided into 2 groups according to age, i.e. ≥50 years old group (n=23) and <50 years old group (n=22). Four shear wave viscoelastic modulus of the common carotid artery (CCA), including shear wave elastic modulus values of the superficial and deep walls (SWES and SWED), shear wave dispersion values of superficial and deep walls (SWDS and SWDD) were obtained using USWD, respectively. In addition, the pulse wave velocity (PWV) was measured. The viscoelastic indexes were compared between the two groups, and the correlations with age, blood pressure and PWV were analyzed. Results: Before and after adjusted with body mass index, systolic blood pressure (SBP) and diastolic blood pressure (DBP), SWES, SWED, SWDS and SWDD were higher in <50 years old group than those in ≥50 years old group (all P<0.05). Among all subjects, SWE was negatively correlated with age, SBP, DBP and PWV, respectively (r=-0.282, -0.374, -0.321, -0.256, all P<0.05). SWD was negatively correlated with PWV in ≥50 years old group (r=-0.393, P=0.038), while positively correlated with SBP in <50 years old group (r=0.366, P=0.048). Conclusion: The viscoelasticity of arterial wall can be non-invasively and quantitatively assessed with USWD.