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 changes in symptoms of inflammatory bowel disease (IBD) patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during the coronavirus disease 2019 (COVID-19) pandemic, as well as the situation of IBD treatment medication use.Methods:A cross-sectional survey study method was used. A questionnaire survey was conducted on a voluntary sampling basis for IBD patients of multiple centers nationwide from December 1st to 31st 2022, collecting clinical data of patients diagnosed with COVID-19 through nucleic acid/antigen testing. Patients were divided into symptomatic exacerbation group and asymptomatic exacerbation group based on whether they felt an exacerbation of IBD symptoms including abdominal discomfort, increased bloody stool or the appearance of purulent bloody stool, increased frequency of diarrhea, etc. And the differences in age, gender, body mass index (BMI) , underlying disease conditions, SARS-CoV-2 vaccination status, IBD type, disease activity, COVID-19 symptoms, and treatment medication between the two groups were compared.Results:A total of 497 patients were included, 317 males and 180 females; age (35.27±11.54) years; 355 CD patients and 142 UC patients; more than 50% of patients exhibited respiratory system symptoms such as fever, muscle soreness, fatigue, cough, expectoration, nasal congestion, and some IBD patients exhibited digestive system symptoms and nervous system symptoms. The symptomatic exacerbation group consisted of 104 patients (20.93%) , and the asymptomatic exacerbation group consisted of 393 (79.07%) . There were no statistically significant differences in gender, age, BMI, underlying diseases, IBD type, and SARS-CoV-2 vaccine doses between the two groups (all P>0.05) . Compared with the asymptomatic exacerbation group, the proportion of patients in the disease active phase was higher [47.12% (49/104) vs. 24.68% (97/393) , P<0.001], and the proportion of patients using mesalazine/sulfasalazine was higher (35.58% vs. 23.41%, P = 0.012) , and the proportions of COVID-19 symptoms such as diarrhea, headache, and dizziness were all higher (all P<0.05) in the symptomatic exacerbation group. Among the 237 IBD patients using biologics, there was a statistically significant difference in the types of biologics used between the symptomatic and asymptomatic exacerbation groups (χ 2 = 9.351, P = 0.031) . Among the 240 patients using biologics, the proportion of delaying or interrupting the use of biologics was higher in symptomatic exacerbation group than that of the asymptomatic exacerbation group, and the difference was statistically significant [45.45% (20/44) vs. 23.98% (47/196) , χ 2 = 8.235, P = 0.004]. Among the 47 patients using immunosuppressants, there was no statistically significant difference in the proportion of stopping immunosuppressants between the symptomatic and asymptomatic exacerbation groups ( P = 0.263) . Conclusion:The main symptoms of IBD patients infected with COVID-19 are respiratory and systemic symptoms, and those in the active phase of the disease or those delaying or withdrawing biologics are more likely to experience an exacerbation of IBD symptoms during the infection.

Objective:To investigate the changes in symptoms of inflammatory bowel disease (IBD) patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during the coronavirus disease 2019 (COVID-19) pandemic, as well as the situation of IBD treatment medication use.Methods:A cross-sectional survey study method was used. A questionnaire survey was conducted on a voluntary sampling basis for IBD patients of multiple centers nationwide from December 1st to 31st 2022, collecting clinical data of patients diagnosed with COVID-19 through nucleic acid/antigen testing. Patients were divided into symptomatic exacerbation group and asymptomatic exacerbation group based on whether they felt an exacerbation of IBD symptoms including abdominal discomfort, increased bloody stool or the appearance of purulent bloody stool, increased frequency of diarrhea, etc. And the differences in age, gender, body mass index (BMI) , underlying disease conditions, SARS-CoV-2 vaccination status, IBD type, disease activity, COVID-19 symptoms, and treatment medication between the two groups were compared.Results:A total of 497 patients were included, 317 males and 180 females; age (35.27±11.54) years; 355 CD patients and 142 UC patients; more than 50% of patients exhibited respiratory system symptoms such as fever, muscle soreness, fatigue, cough, expectoration, nasal congestion, and some IBD patients exhibited digestive system symptoms and nervous system symptoms. The symptomatic exacerbation group consisted of 104 patients (20.93%) , and the asymptomatic exacerbation group consisted of 393 (79.07%) . There were no statistically significant differences in gender, age, BMI, underlying diseases, IBD type, and SARS-CoV-2 vaccine doses between the two groups (all P>0.05) . Compared with the asymptomatic exacerbation group, the proportion of patients in the disease active phase was higher [47.12% (49/104) vs. 24.68% (97/393) , P<0.001], and the proportion of patients using mesalazine/sulfasalazine was higher (35.58% vs. 23.41%, P = 0.012) , and the proportions of COVID-19 symptoms such as diarrhea, headache, and dizziness were all higher (all P<0.05) in the symptomatic exacerbation group. Among the 237 IBD patients using biologics, there was a statistically significant difference in the types of biologics used between the symptomatic and asymptomatic exacerbation groups (χ 2 = 9.351, P = 0.031) . Among the 240 patients using biologics, the proportion of delaying or interrupting the use of biologics was higher in symptomatic exacerbation group than that of the asymptomatic exacerbation group, and the difference was statistically significant [45.45% (20/44) vs. 23.98% (47/196) , χ 2 = 8.235, P = 0.004]. Among the 47 patients using immunosuppressants, there was no statistically significant difference in the proportion of stopping immunosuppressants between the symptomatic and asymptomatic exacerbation groups ( P = 0.263) . Conclusion:The main symptoms of IBD patients infected with COVID-19 are respiratory and systemic symptoms, and those in the active phase of the disease or those delaying or withdrawing biologics are more likely to experience an exacerbation of IBD symptoms during the infection.

Objective:To summarize the clinical characteristics and efficacy of hemorrhage resulted from cortical venous infarction with seizure as the first symptom after craniotomy.Methods:Eleven patients with hemorrhage resulted from cortical venous infarction with seizure as the first symptom after craniotomy admitted to Neurosurgical Center, 988 th Hospital of PLA Joint Logistic Support Force from June 2011 to September 2019 were chosen in our study; primary diseases included meningioma in 7 patients, contusion and laceration of frontal lobe in 2, hypertensive cerebral hemorrhage in 1, and obsessive-compulsive disorder in 1 patient. Epilepsy was the first symptom after craniotomy. Clinical characteristics and efficacy of these patients were analyzed retrospectively; seizure control efficacy was evaluated by Engel grading. Results:First seizure occurred 4 h-7 d after craniotomy in these 11 patients, including 2 with focal sensory retention seizure, 3 with focal bilateral tonic-clonic seizure, and 6 with general tonic-clonic seizure. Follow-up cranial CT revealed hematoma in surgical region, adjacent cortex or subcortex in 9 patients (hematoma volume: 15-50 mL); emergency craniotomy (hematoma clearance) and decompressive craniectomy was performed in 5 patients; only emergency craniotomy (hematoma clearance) was performed in 3 patients; conservative treatment was performed in 1 patient. A small amount of diffuse bleeding with severe cerebral edema in the surgical region appeared in 2 patients, and the transient limb paralysis gradually recovered after 2 months of conservative treatment. Follow-up was performed for (4.5±1.7) years ([2.3-7.0] years). During the last follow-up, 4 patients were normal, 5 patients had mild to moderate hemiplegia, 1 had mild decreased vision in the right eye, and 1 had long-term coma. Epileptic control efficacy analysis indicated that 8 had Engel grading I and 3 grading II.Conclusion:Complete removal of hematoma and inactivated brain tissues can effectively control seizures and rebleeding in patients with hemorrhage resulted from cortical venous infarction.

Objective: To systematically evaluate the efficacy and safety of Bifidobacteria in preventing caries. Methods : Databases including PubMed, Embase, The Cochrane Library, Web of Science, Scopus, Clinicaltrials. gov, CNKI, WanFang Data and VIP were electronically searched from inception to April 2020 to collect randomized controlled trials of Bifidobacterium for caries. Meta-analysis was performed using Revman 5.4 software. Results: In total, 10 randomized controlled trials (RCT) of 518 patients, including 262 in the test group and 256 in the control group, were included. Meta-analysis results reveal no statistically significant differences in salivary Streptococcus mutans counts (SMD=-0.31, 95%CI -0.66 to 0.04, P=0.08) (RR=0.53, 95%CI 0.17 to 1.66, P=0.28) and salivary Lactobacilli counts (SMD=-0.07, 95%CI -0.39 to 0.26, P=0.69) (RR=0.87, 95%CI 0.59 to 1.29, P=0.50). No statistical differences in the counts of Streptococcus mutans and Lactobacillus counts were noted in dental plaque, and no statistical difference in the occurrence of caries in deciduous teeth. Three of the 10 RCTS included in this study did not report adverse events, 5 had no adverse reactions, and 2 reported gastrointestinal discomfort. Conclusion Current evidence suggests that Bifidobacteria do not effectively reduce Streptococcus mutans counts and Lactobacillus counts in saliva and dental plaque, or reduce the occurrence of caries in deciduous teeth. The safety of this treatment also requires further investigation.

Objective:To investigate the imaging and electrophysiological characteristics, surgical methods and efficacies of preschoolers with refractory temporal lobe epilepsy.Methods:A retrospective data study was conducted on 27 patients with refractory temporal lobe epilepsy accepted surgical treatment in our hospital from June 2014 to January 2019. By combined with clinical manifestations, preoperative epileptogenic zones were evaluated by imaging data, such as MR imaging, MR spectroscopy and positron emission tomography-CT, and interictal and ictal video-electroencephalogram (VEEG) data. During the surgery, cortical electroencephalography (ECoG) and deep electrode monitoring were used to monitor and locate the abnormal discharge areas to guide the surgical excision of epileptic zone. Engel grading was used to evaluate the efficacy after surgery.Results:All children had typical clinical manifestations of temporal lobe epilepsy; abnormal signal images were found in one side of the temporal lobe and the hippocampus in MR imaging; epileptic discharges were originated from one side frontotemporal region in interictal and ictal VEEG. Obviously persistent or paroxysmal spike waves, spike waves and slow spikes and spike composite waves were intraoperatively discovered by ECoG and depth electrode electroencephalography in the temporal lobe. All patients accepted standard anterior temporal lobectomy+lesion resection+peripheral abnormal discharge resection of the temporal lobe cortex; partial insular lobe was excised and frontal cortex was performed low power thermal coagulation in two patients. Follow-up was performed for 6 months; Engel grading I was reported in 22 patients (81.5%), Engel grading II in 3 patients (11.1%), and Engel grading III in 2 patients (7.4%).Conclusion:Early surgery and moderate extension of resection under intraoperative ECoG and deep electrode monitoring are the key factors to improve the surgical efficacy of preschoolers with refractory temporal lobe epilepsy.

Objective:To investigate the contamination status of SARS-CoV-2 in imported frozen seafood from a Russia cargo ship in Qingdao and to analyze the risk factors for infection in local stevedores.Methods:The method of "two-stage, full coverage and mixed sampling" was used to collect the seafood packaging samples for the nucleic acid detection of SARS-CoV-2 by real-time fluorescent quantitative RT-PCR. A unified questionnaire was designed to investigate 71 stevedores in two shifts through telephone interview. The stevedores were divided into two groups, with 23 in the shit with two infections was group A and 48 in the shift without infection was group B. Software Epi Info7.2 was used to identify the risk factors for SARS-CoV-2 infections in the stevedores.Results:In the frozen seafood from a Russia cargo ship, the total positive rate of SARS-CoV-2 nucleic acid in the frozen seafood was 11.53% (106/919). The positive rate of SARS-CoV-2 nucleic acid in the frozen seafood unloaded by group A (14.29%,70/490) was significantly higher than that in the frozen seafood unloaded by group B (8.39%,36/429)( χ2=7.79, P=0.01) and the viral loads detected in the frozen seafood unloaded by group A were higher than those detected in the frozen seafood unloaded by group B. The scores of personal protection and behaviors in the stevedores in group A were significantly lower than those in group B ( P<0.05), and toilet use, smoking and improper hand washing before meals were the risk factors for the infection. Conclusions:The imported frozen seafood was contaminated by SARS-CoV-2 and the contamination distribution was uneven. Supervision and management of personal occupational protection and behaviors of workers engaged in imported frozen food transportation should be strengthened. It is suggested that a closed-loop monitoring and management system for the whole process of "fishing-transport- loading/unloading" should be established by marine fishery authority.

Objective? To explore the reliability and validity of critical-care pain observation tool (CPOT) in pain assessment in resting state among neurosurgery patients undergoing craniotomy. Methods? From May 2017 to May 2018, we selected 200 neurosurgery patients undergoing craniotomy at Beijing Tiantan Hospital with the method of prospective and observational study. The Chinese version of CPOT was used to pain assessment in resting state of patients and its scores were recorded. At the same time, the Changhai Pain Rating Scale was used to pain assessment by themselves as a gold standard. We drew the receiver operating characteristic (ROC), calculated the area under curve and confirmed the score of CPOT to determine the sensitivity and specificity of pain. The intraclass correlation coefficient (ICC) was used to evaluate the reliability among CPOT reviewers. Results? A total of 200 patients undergoing craniotomy back to intensive care unit (ICU) were included including 100 patients without and 100 patients with trachea cannula. The Chinese version of CPOT had good reliability in patients between two groups with 0.857 (95%CI: 0.787-0.904) for the ICC of patients without trachea cannula and with 0.851 (95%CI: 0.778-0.899) for the ICC of patients with trachea cannula. Among patients without trachea cannula, when the cut-off value of CPOT was equal or greater than 2, CPOT showed the highest Youden index in assessing pain with 58% for the sensitivity and 86% for the specificity. Among patients with trachea cannula, the cut-off value of CPOT being equal or greater than 3 showed the highest Youden index in assessing pain with 74% for the sensitivity and 91% for the specificity. There was no statistical difference in the area under curve of pain assessed by CPOT between patients with and without trachea cannula (0.866 vs. 0.777, P＞0.05). Conclusions? CPOT has the good reliability and validity in pain assessment in resting state among neurosurgery patients undergoing craniotomy.

Objective To explore the value of preoperative spleen-liver volume ratio (SLVR) for predicting recurrence of primary liver cancer after hepatectomy.Methods Clinical data of 86 cases of hepatocellular carcinoma undergoing hepatectomy were analyzed retrospectively from January 2009 to December 2014.According to the preoperative SLVR,these patients were divided into two groups:SLVR ＜ 0.8 group (low SLVR group) and SLVR≥0.8 group (high SLVR group).Patients were followed-up until June 2015.Cox ratio risk pattern analysis was used for the recurrent correlative factors.Results The 1-,3-,and 5-year survival rates were 95.5％,88.6％,and 81.8％ in the low SLVR group,and 73.8％,47.6％,and 40.5％ in the high SLVR group,respectively.The difference were statistically significant between two groups (P ＜0.05).Cox regression analysis revealed that SLVR≥0.8,AFP-L3％ ≥10％,the maximum diameter of the tumor ＞ 5 cm,and hepatic or portal vein tumor thrombus were independent predictors of poor disease-free survival after hepatectomy for hepatocellular carcinomas (P ＜ 0.05).Conclusions Preoperative SLVR≥0.8 is an independent adverse predictor of poor disease-free survival.

Objective To explore the safety of the laparoscopic surgery in radical resection for different stage rectal cancer.Methods Clinical data of 200 cases with rectal cancer underwent laparoscopic radical resection(observation group) were analyzed retrospectively,including 52 cases of stage 0-Ⅰ,148 cases of stage Ⅱ-Ⅲ.Two hundred cases patients with rectal cancer underwent open radical surgery were selected as control group,including 44 cases of stage 0-Ⅰ,156 cases of stage Ⅱ-Ⅲ.The length to distal resection margin,the number of harvested lymph nodes,the incidence of postoperative complications and the prognosis of recent situation were observed,the safety of the laparoscopic surgery was analyzed.Results Whether rectal cancer of stage 0-Ⅰ or Ⅱ-Ⅲ,there were no significant differences in terms of the length of distal resection margin((2.5±0.9) cmvs.(2.4±1.1) cm,t=0.490,P=0.625;(3.1±1.0) cm vs.(3.2±1.3) cm,t=0.749,P=0.454),the number of harvested lymph nodes((12.3±4.2) vs.(12.7±3.9),t=0.480,P=0.632;(13.9±5.4) vs.(15.1±4.9),t=2.369,P=0.118),the incidence of postoperative complications (17.3％ vs.18.2％,x2 =0.012,P=0.911;27.7％ vs.28.8％,x2=0.049,P=0.825),the rate of local recurrence(1.9％vs.2.3％,x2 =0.014,P =1.000;4.1％ vs.3.2％,x2=0.157,P=0.692),the distant metastasis (3.8％ vs.2.3％,x2=0.195,P=1.000;5.4％ vs.4.5％,x2=0.137,P=0.712) and 3-year survival rate (96.2％vs.95.5％,x2=0.010,P=0.808;83.8％ vs.85.3％,x2=0.132,P=0.714) between the observation group and control group (P＞0.05).Conclusion For rectal cancer of stage 0-Ⅰ,laparoscopic surgery has good safety,and worthy of popularization and application.For rectal cancer of stage Ⅱ-Ⅲ,due to its operation for a long time as well as the possible risk in postoperative anastomotic fistula,the implementation of laparoscopic surgery should be more cautious.