IKBKG is the essential modulator for nuclear factor-κB(NF-κB) signaling pathway, and mutations within this gene can lead to anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID). Here we report a male patient, who presented with mild frontal bossing, sparse hair, skin pigmentation, conical teeth, and recurrent infections involving bacteria, fungi, and viruses after one month of age, together with hypogammaglobulinemia. These symptoms were consistent with the phenotype of EDA-ID. Genetic analysis revealed a hemizygous mutation c.1249T > G (p.Cys417Gly) in exon 10 of the IKBKG gene in the patient. The mother of the patient was identified as heterozygous carriers of the same mutation. Immunological assessment revealed a significant reduction in memory B cells. The patient showed no skewed TCR diversity. PHA-induced T-cell proliferation was impaired. IFN-γ secretion by Th cells was significantly reduced after PHA stimulation. IκBα degradation rate retained the same in the patient. We summarized the clinical features of the patient and conducted immunological analysis, in order to increase pediatricians′awareness of this rare disease. For boys with early-onset recurrent infections together with ectodermal dysplasia, IKBKG mutation should be considered. In addition, genetic analysis is needed to exclude pseudogene interference and functional evaluations are required.

Objective:To summarize the clinical characteristics of two families with hereditary angioedema in children.Methods:A retrospective analysis was conducted on the general information, clinical manifestations, genetic variations, and laboratory test results of two families diagnosed with hereditary angioedema at Department of Rheumatology and Immunology, Shenzhen Children′s Hospital from December 2022 to May 2023. And using keywords such as "children" "adolescent" "infant" "toddler" "pediatric" "hereditary angioedema" search for relevant literature from VIP, Wanfang, CNKI, PubMed, Web of Science and Google Scholar from the establishment of the database until January 2024 and summarize the diagnosis and clinical characteristics of hereditary angioed in children.Results:Case 1, female, 12 years old, presented with intermittent abdominal pain for 8 years, aggravated with vomiting for 2 days. Eight years ago, without a clear cause, case 1 experienced abdominal pain and underwent two abdominal surgeries. The concentration of C1 esterase inhibitor was 0.46 g/L, and the function of C1 esterase inhibitor was less than 0.01. The SERPING1 gene had a c.1396C>G variation, and she was diagnosed with hereditary angioedema type Ⅱ. Among the other 13 family members, 8 had swelling in different parts, and 2 had died. Case 2, female, 17 years old, was diagnosed with hereditary angioedema type Ⅰ due to intermittent limb swelling for more than 2 years. She had C4 of 0.09 g/L, C1 esterase inhibitor concentration of 0.05 g/L, C1 esterase inhibitor function <0.01, SERPING1 gene c.882C>G variation. Two out of the other 12 family members experienced intermittent skin swelling. Literature review meets the search criteria with 0 Chinese literature and 15 English literature, including a total of 524 cases of hereditary angioedema in children. Combined with 2 families in this group, there are 5 families with hereditary angioedema in children as the proband. The onset time is 1-15 years old, and the diagnosis delay time is -0.9 to 20.0 years. Two hundred and sixty-three cases (50.2%) of the children had a family history survey, of which 229 cases (87.1%) had a positive family history. Two hundred and fifty-seven cases (49.0%) had clear disease classification, with type Ⅰ being the main type, accounting for 234 cases (91.1%). The clinical symptoms of 296 children (56.5%) were described in detail, including 262 cases (88.5%) with skin edema in different parts, 176 cases (59.5%) with abdominal pain, and 61 cases (20.6%) with upper respiratory tract edema in the throat.Conclusions:Hereditary angioedema is mainly characterized by episodic skin and mucosal swelling, with individualized differences in the locations and characteristics of the onset. Hereditary angioedema in children is often overlooked, and patients with a positive family history of episodic skin and mucosal swelling need to actively undergo complement level testing.

Objective:To investigate the efficacy of a machine learning model based on radiomics of brain lesions on T 2WI in differentiating multiple sclerosis (MS) from neuromyelitis optica spectrum disorders (NMOSD). Methods:Totally 223 MS and NMOSD patients who were treated from January 2009 to September 2018 in Beijing Tiantan Hospital Affiliated to Capital Medical University, Donghu Branch of the First Affiliated Hospital of Nanchang University, Tianjin Medical University General Hospital, and Xuanwu Hospital of Capital Medical University were analyzed retrospectively, and according to the proportion of 7∶3, 223 patients were completely randomly divided into training set (156 cases) and test set (67 cases). A total of 74 patients with MS and NMOSD who were treated in Huashan Hospital Affiliated to Fudan University and China-Japan Friendship Hospital of Jilin University from January 2009 to September 2018 and in Xianghu Branch of the First Affiliated Hospital of Nanchang University from March 2020 to September 2021 were collected as an independent external validation set. All patients underwent brain cross-sectional MR T 2WI, radiomics features were extracted from T 2WI, and features were selected by max-relevance and min-redundancy and least absolute shrinkage and selection operator algorithms. Then various machine learning classifier models (logistic regression, decision tree, AdaBoost, random forest or support vector machine) were constructed to differentiate MS from NMOSD. The area under curve (AUC) of receiver operating characteristics was used to evaluate the performance of each classifier model in the training set, test set and external validation set. Results:Based on multi-center T 2WI, a total of 11 radiomics features related to the discrimination between MS and NMOSD were extracted and classifier models were constructed. Among them, the random forest model had the best efficiency in distinguishing MS from NMOSD, and its AUC values for distinguishing MS from NMOSD in the training set, test set and external validation set were 1.000, 0.944 and 0.902, with specificity of 100%, 76.9% and 86.0%, and sensitivity of 100%, 92.1% and 79.7%, respectively. Conclusion:The random forest model based on the radiomic features of T 2WI of brain lesions can effectively distinguish MS from NMOSD.

Objective: To examine the effect of functional sports training on the development of spatial awareness in children aged 6-8 years old,to provide a reference to improve children s ability of spatial sense. Methods: A class of 125 children aged 6-8 years from first, second, and third grades of an elementary school in Zhengzhou City were conveniently selected by stratified random sampling, who were divided into the experimental group ( n =62) and the control group ( n =63) by random number tables. The experimental group received functional sports intervention for 8 weeks,3 times a week,20 min each time, and the control group received traditional sports game program. Results: After the intervention,the error values of depth perception, orientation perception, and space perception in the experimertal group of 6 and 7 year old children reduced by 1.98 cm, 2.88°, and 22.00 cm (6 year old children) and 1.61 cm, 2.34°, and 17.99 cm (7 year old children) compared with the control group, respectively. Compared with those in the control group of 8 year old after the intervention, and the differences were of statistical signifiance( t =-3.07, -2.94, -3.07 ; -3.25, -3.29, -3.15, P <0.01). There was no significant difference in the error values of depth perception, orientation perception and space perception between the experimental group and the control group after intervention ( P >0.05). In the experimental group, the error values of depth perception, orientation perception and space perception reduced by 2.30 cm, 3.88°, 28.05 cm (6 year old children), 2.16 cm, 2.15°, 17.45 cm (7 year old children) and 1.16 cm, 1.81°, 9.10 cm (8 year old children) in children aged 6-8 years after intervention, significant improvement were observed compared with before intervention ( t = 8.50 , 9.04, 7.35; 7.39, 10.30, 11.05; 4.67, 4.46, 14.14, P <0.01). Compared with before the intervention, children aged 6-8 in the control group only had significant differences in space perception( t =4.13, 6.71, 8.93, P <0.01). Conclusion Functional sports games can improve depth perception, orientation perception and spatial perception for children aged 6-8 years. It can be integrated into children s daily activities to play a positive role in promoting the healthy growth of children.

Objective:To investigate the changes of glymphatic system function at relapse and remission phases in patients with relapsing remitting multiple sclerosis (RRMS) and their relations with clinical parameters.Methods:Sixteen patients with RRMS at relapsing phase and 25 patients with RRMS at remitting phase, admitted to Department of Neurology, First Affiliated Hospital of Nanchang University from September 2012 to December 2020, were enrolled; and 29 normal controls were recruited at the same period in Physical Examination Center the same hospital. The diffusion tensor imaging data were analyzed retrospectively, and the along perivascular space (ALPS) index was calculated. The differences in clinical data and ALPS index among the 3 groups were compared, and the correlations between ALPS index and clinical parameters in RRMS patients were analyzed.Results:The scores of expanded disability status scale (EDSS) and modified fatigue impact scale (MFIS) in patients at relapsing phase were significantly higher than those in patients at remitting phase ( P<0.05). The ALPS index in bilateral cerebral hemispheres in the control group was significantly higher than that in RRMS patients at relapse and remission phases ( P<0.05). In patients with RRMS at relapse phase, the ALPS index in the left cerebral hemisphere was negatively correlated with disease duration and EDSS scores ( r=-0.536, P=0.032; r=-0.573, P=0.020). Conclusion:Patients with RRMS have glymphatic system dysfunction; this dysfunction may be the potential pathological basis of clinical dysfunction in patients with RRMS at relapsing phase.

Objective:To analyze risk factors for the occurrence and progression of isolated distal deep vein thrombosis (IDDVT) of lower limbs, and to explore the predictive value of dynamic changes of coagulation index D-dimer on the occurrence and progression of IDDVT in acute brain injury (ABI) patients during perioperative period.Methods:A retrospective case-control study was conducted. Perioperative ABI patients admitted to department of neurocritical care unit (NCCU) of the First Affiliated Hospital of University of Science and Technology of China from September 2019 to May 2020 were enrolled. Patients' baseline characteristics, disease characteristics, treatment approaches, outcomes and coagulation function index at 1, 2-4, 5-7 and > 7 days post operation were analyzed between patients with IDDVT and patients with progressive IDDVT. Risk factors for IDDVT occurrence and progression were identified by multivariate Logistic regression. Receiver operating characteristic curve (ROC curve) were drawn to assess the predictive value of coagulation indexes for IDDVT occurrence and progression.Results:A total of 164 ABI patients were enrolled. Most of the patients were elderly [age was 60 (51, 69) years], male [99 cases (60.4%)], and severe cases [Glasgow coma score (GCS) at admission was 6 (5, 8)]. The rates of IDDVT occurrence and progression were 61.6% (101 cases) and 16.8% (17 cases), respectively, the rate of proximal deep venous thrombosis (DVT) was 12.8% (21 cases). Compared with the IDDVT group (101 patients), patients without IDDVT group were younger (years: 55±13 vs. 62±13), length of intensive care unit (ICU) stay were shorter (days: 12±6 vs. 15±7), body mass index (BMI) and GCS at admission were higher [59 patients, BMI (kg/m 2): 23±5 vs. 19±8, GCS scores: 7±2 vs. 6±2], the differences were statistically significant (all P < 0.05). Compared with patients with IDDVT progression group, male patients were fewer [61.9% (52/84) vs. 88.2% (15/17)], the proportion of transfusion of red blood cell and anticoagulant therapy were lower [8.3% (7/84) vs. 29.4% (5/17) and 47.6% (40/84) vs. 94.1% (16/17)], the proportion of cerebral herniation was higher [42.9% (38/84) vs. 11.8% (2/17)] in patients without IDDVT progressive group. All of the differences were statistically significant (all P < 0.05). D-dimer were increased in two groups of whether IDDVT occurrence or not over time. D-dimer peaked on 5-7 days after surgery in IDDVT occurrence group, and then decreased. D-dimer peaked at > 7 days after surgery in patients without IDDVT. With time, D-dimer were increased in groups of whether IDDVT progression or not, both peaked at 5-7 days postoperation, and then decreased. Compared with non-IDDVTgroup, D-dimer was significantly increased in IDDVT group from 2-4 days after surgery [mg/L: 4.1 (2.3, 8.0) vs. 2.4 (1.7, 3.4), P < 0.05], and lasted until 5-7 days [mg/L: 5.5 (3.3, 11.4) vs. 3.9 (2.6, 5.8), P < 0.05]. Compared with IDDVT group, D-dimer was significantly increased in IDDVT progressive group from 2-4 days [mg/L: 11.2 (4.7, 20.0) vs. 3.7 (2.1, 6.8), P < 0.05], and lasted until 7 days [mg/L: 11.0 (3.0, 18.9) vs. 4.1 (2.6, 6.5), P < 0.05]. Multivariate Logistic regression analysis showed that age > 60 years [odds ratio ( OR) = 3.43, 95% confidence interval (95% CI) was 1.69-6.96, P = 0.001], GCS score at admission > 8 ( OR = 0.35, 95% CI was 0.17-0.76, P = 0.008), length of ICU stay > 13 days ( OR = 2.25, 95% CI was 1.08-4.70, P = 0.031) were risk factors for IDDVT. Gender ( OR = 0.19, 95% CI was 0.02-0.71, P = 0.019), transfusion of red blood cell ( OR = 6.50, 95% CI was 1.33-31.94, P = 0.021), cerebral herniation ( OR = 0.18, 95% CI was 0.37-0.90, P = 0.036) were risk factors for IDDVT profression. ROC curve analysis showed that age and D-dimer at 5-7 days were predicators of IDDVT [the area under curve ROC (AUC) were 0.68 and 0.72, 95% CI were 0.60-0.75 and 0.64-0.80, both P value were 0.000 1]. When the cut-off value of age was 60 years old and the D-dimer was 5.4 mg/L, the sensitivity were 60.6% and 54.4%, specificity were 71.2% and 80.9%, respectively, positive predictive value were 78.7%, 84.5%, negative predictive value were 51.2%, 48.1%, respectively. The elevation of D-dimer to 3.9 times at days 5-7 compared with day 1 of NCCU stay was a predicator of IDDVT progression (AUC = 0.81, 95% CI was 0.71-0.88, P = 0.000 1). The sensitivity, specificity, positive predictive value and negative predictive value were 76.5%, 74.6%, 41.9% and 93.0%, respectively. Conclusions:IDDVT occurrence and progressiveare common in severe ABI patients during perioperative period. The dynamic change of D-dimer, especially at days 5-7, is a valuable predictor of IDDVT progressionin ABI patients, which is helpful for guiding implementation of deep vein ultrasound of lower limb.

Objective:To investigate the clinical manifestations and characteristics of children infected with 2019 novel coronavirus (2019-nCoV) in Wuhan City.Methods:The clinical data of 146 children diagnosed with 2019 novel coronavirus infection by nasopharyngeal swab real-time reverse transcription polymerase chain reaction in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 21 to February 24, 2020 were retrospectively analyzed. The basic data, clinical symptoms, laboratory examinations, pulmonary imaging, clinical classification, treatment medication and the prognosis of disease were included for analysis.Results:Among the 146 cases, 86 (58.9%) were males and 60 (41.1%) were females, with a median age of 6 years and 10 months.Three cases (2.1%) had a history of underlying diseases, 127 cases (87.0%) had a clear history of infected family clusters, and two cases (1.4%) had a history of exposure with Huanan Seafood Wholesale Market in Wuhan City. The clinical classifications included 20 asymptomatic cases (13.7%), 26 mild cases (17.8%), 99 ordinary cases (67.8%), and one critical case (0.7%). A total of 146 patients were tested positive for nasopharyngeal swabs by 2019-nCoV nucleic acid. Among them, 10 patients had a negative nasopharyngeal swab nucleic acid test before diagnosis, and one of them had a negative nasopharyngeal swab nucleic acid test for two consecutive times. The initial symptoms were mainly fever (59 cases, 40.4%) and cough (52 cases, 35.6%). Thirteen cases (8.9%) showed decreased leukocyte counts and three cases (2.1%) showed decreased lymphocyte counts. In addition, aspartate aminotransferase increased in 23 cases (15.8%), serum creatinine increased in seven cases (4.8%), lactic acid dehydrogenase increased in 26 cases (17.8%), and C reactive protein increased in 38 cases (26.0%). Fifty-nine cases (40.4%) were tested positive for IgM antibody to Mycoplasma pneumoniae. One hundred cases (68.5%) were abnormal in pulmonary imaging and 50 cases (34.2%) presented with multiple frosted glass shadows. All the 146 children were given general treatment, and the antiviral treatment was mainly interferon or interferon combined with oral medication. As of February 24, 2020, 72 cases (49.3%) were discharged from the hospital after reaching the de-isolation standard, with a median length of stay of 10 days, and there was no death case.Conclusions:Children with 2019-nCoV infection in Wuhan City are mainly caused by family aggregation. The clinical classification is mainly ordinary type, and the laboratory examination has no specificity. Specimens could be collected from multiple repeatable sites for 2019-nCoV nucleic acid test in suspected cases. Chest computed tomography has certain value for the diagnosis of children with 2019-nCoV infection. The recent prognosis of the patients is good with general treatment.

Objective    To evaluate the strategy of chemoradiotherapy following endoscopic R0 resection for esophageal cancer in M3-T1b stage. Methods    There were 45 esophageal cancer patients with M3-T1b stage with endoscopic R0 resection followed by additional chemoradiotherapy from ECETC (Esophageal Cancer Endoscopic Therapy Consortium) as a trial group with 34 males and 11 females at age of 61.37±7.14 years. There were 90 patients with esophagectomy from Fudan University Shanghai Cancer Center as a control group with 63 males and 27 females at age of 61.04±8.17 years. Propensity score match (1:2) was used to balance the factors: gender, age, position, depth of invasion and lymphovascular invasion (LVI), which may influence the outcomes. Overall survival (OS) rate, relapse free survival (RFS) rate, and local recurrence rate were compared between the two groups. Result    There was no statistical difference (HR=2.66 with 95%CI 0.87 to 8.11, P=0.179) in terms of OS rate between the two groups. One, two and three years overall survival rate of patients in the control group was 93%, 86%, and 84%, respectively. Nobody died in the trial group within 3 years after surgery. The RFS rate between the two groups didn’t significantly differ (HR=1.48, 95% CI 0.66 to 3.33, P=0.389). One, two and three years RFS rate of patients in the contorl group was 87%, 78%, and 76%, respectively, while 97%, 93%, and 73% in the trial group, respectively. The local recurrence rates between the two groups didn’t significantly differ either ( HR=0.53，95%CI 0.13 to 2.18, P=0.314). One, two and three years local recurrence rate of patients in the control group was 5%, 6% and 6%, respectively, while 0%, 0% and 21% in the trial group, respectively. Conclusion    Similar outcomes are found regarding OS, RFS and local recurrence rates between the two groups. The strategy of endoscopic R0 resection followed by additional chemoradiotherapy has prospect for the treatment of esophageal cancer in M3-T1b stage. And this kind of therapy may be provided for those with risk factors or can not tolerate surgery.

A simple and rapid immunochromatographic test strip incorporating a colloidal gold-labeled recombinant Nsp7 antigen probe was successfully developed for the detection of anti-porcine reproductive and respiratory syndrome virus (PRRSV) antibodies in swine. Recombinant Nsp7 protein of PRRSV labeled with colloidal gold was dispensed on a conjugate pad for use as the detector. Staphylococcal protein A and purified porcine anti-Nsp7 antibodies were blotted on a nitrocellulose membrane to form test and control lines, respectively. A comparison of the strip with standard diagnostic tests, enzyme-linked immunosorbent assays and immunoperoxidase monolayer assay, was also performed. The immunochromatographic test strip was shown to be of high specificity and sensitivity. Furthermore, the strip assay is rapid and easy to perform with no requirement for professional-level skills or equipment. It is suggested that the immunochromatographic test strip can be used to quickly and accurately detect PRRSV antibody and to be suitable for diagnostic purposes in the field.
Antibodies* ; Collodion ; Colloids ; Diagnostic Tests, Routine ; Enzyme-Linked Immunosorbent Assay ; Gold Colloid ; Immunochromatography ; Membranes ; Porcine Reproductive and Respiratory Syndrome* ; Porcine respiratory and reproductive syndrome virus* ; Sensitivity and Specificity ; Staphylococcal Protein A ; Swine

OBJECTIVETo analyze the clinical features and prognostic factors of patients with mantle cell lymphoma(MCL).

METHODSThe clinical data of 66 MCL patients were collected from the Department of Hematology of Shanghai Ruijin Hospital, Shanghai Jiaotong University Medical School from January 2000 to December 2014. The clinical characteristics, treatment efficiency and survival rate were analyzed retrospectively.

RESULTSThe sex ratio of male to female in these 66 MCL patients was 3.71:1, the nosopoietic median age was 59 years old, and most cases were diagnosed as MCL in Ann Arbor stage III-IV(90.9%). "R-HperCVAD" regimen had the highest CR-rate reached to 55.6%, and CR rate of "R-CHOP" reached to 44.4%. The total prospective 5-year overall survival and progress-free survival rates were 35.5%±11.5% and 8.8%±5.6%, respectively. Leukocyte count abnormality(>10×10/L or <4×10/L), B symptom, LDH level, bone marrow involvement, Ki-67 and high risk group of MIPI scores, and therapy combined with or without rituximab were the independent prognostic factors.

CONCLUSIONThe prognosis of MCL patients is poor, and the incidence is higher in men. The extranodal sites of bone marrow and gastrointestinal tract are involved more easily. The treatment combined with rituximab can increase survival rate for these patients.