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 observe the distribution characteristics of sensitization areas on the body surface in the rat models with functional constipation and diarrhea, explore the regulatory patterns of electroacupuncture (EA) of different intensities at "Tianshu" (ST25) on distal colon motility, and clarify the roles of the neurons of different subtypes in the enteric nervous system (ENS) displayed in the regulatory effect. METHODS: Of 90 SD male rats of SPF grade, 15 rats were randomized into a normal group, a constipation group and a diarrhea group, 5 rats in each one. The stool form and fecal water content, as well as the distribution of the Evans blue (EB) extravasation on the body surface after the intravenous injection with EB on the tails were observed. Eighteen rats were randomized into a normal +2 mA group, a normal +4 mA group and a normal + 6 mA group, 6 rats in each one. Using physiological signal acquisition system, the area under the curve and the average amplitude of colon peristalsis were recorded and analyzed, and the immediate effect on distal colon peristalsis observed after EA with different intensities at "Tianshu" (ST25). Thirty rats were randomized into a normal group, a constipation group, a diarrhea group, a constipation +2 mA group, and a diarrhea +6 mA group, 6 rats in each one, so as to observe the cumulative effect on colon motility disorder in the rat models of constipation and diarrhea after EA at "Tianshu" (ST25). Twelve rats were randomized into a constipation +2 mA group and a diarrhea +6 mA group, 6 rats in each one, to observe the immediate effect on colon motility disorder in the rat models of constipation and diarrhea after EA at "Tianshu" (ST25). Fifteen rats were randomly divided into a normal group, a constipation group, a diarrhea group, a constipation +2 mA group, and a diarrhea + 6 mA group, 3 rats in each one. Using the whole-mount staining technique, the expression of vesicular acetylcholine transporter (VAChT)-positive neurons and nitric oxide synthase (nNOS)-positive neurons in ENS was detected. According to the group divisions, the functional constipation models were established by intragastric administration of loperamide hydrochloride (10 mg/kg, once daily, for consecutive 7 days), and the functional diarrhea models were prepared by intragastric administration of folium sennae decoction (10 mL/kg, once daily, for consecutive 2 days). The interventions were delivered with EA of different intensities (the electric current of 2, 4 or 6 mA) at bilateral "Tianshu" (ST25), separately, with the continuous wave and the frequency of 10 Hz used. RESULTS: Compared with the normal group, the fecal amount was decreased, and the fecal water content was reduced in the rats of the constipation group (P<0.001); and loose stool was presented and the fecal water content increased in rats of the diarrhea group (P<0.001). EB extravasation on the body surface happened in the region from T₆ to S₂ of the rats in the constipation and diarrhea groups, and it was more concentrated in the lower abdominal and the lower back regions from T₁₀ to L₃. Compared with the indexes before EA, in the normal +2 mA group and the normal +4 mA group, the areas under the curve and the average amplitude of the distal colon peristalsis were higher during EA delivery (P<0.01, P<0.05), showing a stimulatory immediate effect; and the post-effect was obtained after EA at 2 mA. Whereas, these two indexes were declined during EA in the rats of the normal +6 mA group (P<0.001), showing an inhibitory immediate effect. After many interventions with EA, when compared with those before EA, the above two indexes rose in the constipation +2 mA group (P<0.05, P<0.01), and they were dropped in the diarrhea +6 mA group (P<0.01, P<0.05). The area under the curve of the colon peristalsis in the constipation +2 mA group was higher than that of the constipation group (P<0.001), and that in the diarrhea +6 mA group was lower compared with that in the diarrhea group (P<0.001). The stimulatory effect of EA on colon motility in the constipation +2 mA group was stronger than that of the normal + 2 mA group (P<0.05), and its inhibitory effect was not different statistically in comparison between the normal +6 mA group and the diarrhea +6 mA group (P>0.05). In ENS of the distal colon, after EA at 2 mA, the proportion of VAChT-positive neurons was higher than that of the activated nNOS-positive neurons (P<0.001); and after EA at 6 mA, the activated nNOS-positive neurons were dominant (P<0.001). CONCLUSION In the functional constipation and diarrhea rat models, the sensitization areas on the body surface are centralized in the lower abdominal and the lower back regions of T₁₀ to L₃. Electroacupuncture at "Tianshu" (ST25) has a bidirectional regulatory effect on distal colon motility, and this effect is coordinated with the intensity of electroacupuncture, and may be mediated by ENS neurons of different subtypes.
Animals ; Electroacupuncture ; Male ; Rats ; Colon/innervation* ; Acupuncture Points ; Rats, Sprague-Dawley ; Constipation/physiopathology* ; Gastrointestinal Motility ; Humans ; Diarrhea/physiopathology*

Through collecting the existing clinical evidences on acupuncture and moxibustion for urticaria, the distribution of evidence in this field was mapped. A systematic search of Chinese and English literature was conducted in CNKI, Wanfang, VIP, SinoMed, PubMed, EMbase, and Cochrane Library for treatment of urticaria with acupuncture and moxibustion, published up to December 31, 2023 since inception of each database. The research status in this field was summarized using an evidence mapping approach, and methodological quality was assessed. A total of 323 randomized controlled trials (RCTs) and 22 systematic reviews were included. The number of studies on acupuncture and moxibustion for urticaria has been increasing, with a significant rise in recent years. In most RCTs, the study scale was small, and the subjects focused on chronic spontaneous urticaria in adolescents and middle-aged adults, aged 14 to 60 years. Regarding the intervention measures, the single therapy of acupuncture and moxibustion was predominant such as acupoint injection, acupoint embedding thread, and filiform needling. In acupuncture with filiform needles, the commonly used acupoints were Quchi (LI11), Xuehai (SP10), Sanyinjiao (SP6), Zusanli (ST36) and Hegu (LI4). The main outcome measures referred to effectiveness rate, score of disease severity, recurrence rate, laboratory indexes, and score of quality of life; and the short-term effect was evaluated specifically. The overall methodological quality of the included studies was relatively low. It is suggested that the future research should focus on large-scale, multi-center, high-quality clinical trials, optimize the protocols for acupuncture and moxibustion intervention, standardize the outcomes, and draw the attention to the evaluation of long-term efficacy, so as to provide clinical evidences of high certainty for urticaria treated with acupuncture and moxibustion.
Humans ; Moxibustion ; Acupuncture Therapy ; Urticaria/therapy* ; Acupuncture Points ; Randomized Controlled Trials as Topic ; Adolescent ; Adult ; Young Adult

OBJECTIVE: To reveal the gap between the evidence of systematic reviews (SRs) and clinical concerns by systematically summarizing the evidence on acupuncture and moxibustion for frozen shoulder and investigating the concerns and needs of clinicians in treatment with acupuncture and moxibustion for this disease. METHODS: The articles of SR and Meta-analysis on acupuncture and moxibustion for frozen shoulder were searched from CNKI, Wanfang, VIP, SinoMed, PubMed, EMbase and Cochrane Library, starting from the inception of each database up to December 31st, 2022. Two researchers screened the articles and extracted data independently. Using AMSTAR-2, the methodological quality of the included studies was evaluated. Based on systematic reviews and expert discussion, a questionnaire on clinical concerns of acupuncture and moxibustion for frozen shoulder was developed and distributed to clinicians. The discrepancies between the evidence and clinical concerns were compared from 5 dimensions, including population, interventions, control measures, outcome indicators and review time points. RESULTS: The evidence gaps existed between SRs and clinical concerns. In the existing studies, the needs of personalized treatment were not fully considered in terms of different syndromes/patterns of frozen shoulder and stages of illness, the outcome indicators were not employed properly, the time for outcome measurement was vague, the control groups were set up outside of standardization, and the methodological quality was lower. CONCLUSION It is suggested that future studies should improve the quality of methodology, lay more consideration to different patient groups, optimize outcome indicators and standardize the setting of control groups, so as to better meet the needs of patients and achieve the best match between evidence and clinicians' needs.
Humans ; Acupuncture Therapy ; Bursitis/therapy* ; Evidence Gaps ; Moxibustion ; Systematic Reviews as Topic ; Meta-Analysis as Topic

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 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 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 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 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.