Objective To explore the anxiety status and influencing factors in school-age children with recurrent Henoch-Sch?nlein purpura(HSP).Methods A total of 158 school-age children with recurrent HSP were selected as the study subjects.The Screen for Child Anxiety Related Emotional Disorders(SCARED)was used to assess the anxiety status of the children.Based on the assessment results,the 158 children were divided into anxiety group and non-anxiety group.Univariate and multi-variate logistic regression analyses were employed to screen for the influencing factors of anxiety occur-rence.A logistic regression model was constructed,and the Hosmer-Lemeshow test was used to evalu-ate the model's goodness-of-fit.Results Among the 158 children,43 presented anxiety,with an anx-iety incidence rate of 27.22％(43/158).There were significant differences between the anxiety and non-anxiety groups in terms of age,neurotic personality traits,purpura location,the number of purpura recurrences,family care level,educational level of the primary caregiver,monthly per capita household income,and whether the primary caregiver had anxiety or depression(P＜0.05).Multivariate logistic regression analysis revealed that age ≥10 years(OR=7.192,95％CI,2.450 to 21.114,P＜0.001),neurotic personality traits(OR=5.202,95％CI,1.486 to 18.208,P=0.010),purpura located on the face(OR=5.648,95％CI,1.606 to 19.861,P=0.007),the number of purpura recurrences ≥2 times(OR=5.017,95％CI,1.753 to 14.361,P=0.003),a general family care level(OR=3.809,95％CI,1.153 to 12.579,P=0.028),the primary caregiver having an educational level below junior high school(OR=3.005,95％CI,1.051 to 8.592,P=0.040),the primary care-giver having anxiety(OR=6.484,95％CI,2.140 to 19.647,P=0.001),and the primary care-giver having depression(OR=9.327,95％CI,2.473 to 35.172,P=0.001)were independent risk factors for anxiety occurrence in school-age children with recurrent HSP.A logistic regression prediction model was constructed based on the above risk factors and their regression coefficients.The Hosmer-Lemeshow test results indicated a good model fit(x2=10.363,P=0.169).Conclu-sion Age,neurotic personality traits,purpura location,the number of purpura recurrences,family care level,educational level of the primary caregiver,and whether the primary caregiver has anxiety or depression are influencing factors for anxiety occurrence in school-age children with recurrent HSP.Medical personnel should pay attention to children with high-risk factors for anxiety and formu-late corresponding preventive measures based on the above factors to reduce the anxiety incidence rate in school-age children with recurrent HSP.

Objective To evaluate the clinical use of the baseline CT angiography(CTA)quantitative score(self-designed collateral circulation quantitative,SD-CCQ)in determining the collateral circulation compensation status in patients with acute ischemic stroke(AIS),as well as the reliability and accuracy of the SD-CCQ score and the Alberta Stroke Program Early CT Score(ASPECTS).Methods Retrospective analysis was made on the clinical and imaging data,including CT,CTA and DWI image data,of 84 patients who were admitted for acute ischemic stroke to the Department of Neurorehabilitation of Zhongshan Hospital of Traditional Chinese Medicine from January 2020 to December 2022.Their CTA source images were annotated using a multi-task deep learning method for vascular segmentation.The ASPECTS score and SD-CCQ score were then applied to the CTA images following vascular segmentation in order to assess the collateral circulation compensation of AIS patients.The Kappa test was used to assess the consistency of the two methods used to assess collateral circulation,and the multifactorial Logistic regression analysis was used to examine the relationship between the SD-CCQ and the prognosis of the AIS patients.Results ASPECTS score had good consistency with SD-CCQ score in evaluating collateral circulation in AIS patients(κ=0.65,P＜0.001),and the diagnostic accuracy of the latter for benign collateral circulation in AIS was 96.15％.Logistic regression analysis showed that the new collateral circulation score,baseline NIHSS,and DWI infarct volume were the main factors affecting the long-term prognosis of AIS patients.Conclusion The new scoring system SD-CCQ can be used to evaluate the compensatory status of collateral circulation in AIS patients,which may help in clinical treatment decision-making and prognosis prediction.

OBJECTIVE: To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics analysis. RESULTS: The proband presented fasting hypoglycemia, hepatomegaly, growth retardation, transaminitis, metabolic acidosis and hyperlactatemia. Liver biopsy indicated GSD. Novel compound heterozygous PYGL gene variants (c.2089A>G/c.158_160delACT) were detected in the proband. Compound heterozygosity was confirmed by Sanger sequencing of the patient's genomic DNA. Provean and MutationTaster predicted the two variants as deleterious and the variant sites are highly conserved. CONCLUSION The compound heterozygous variants (c.2089A>G/c.158_160delACT) of PYGL gene probably underlay the GSD in the patient. The two novel variants have expanded the spectrum of PYGL gene variants and provided the basis for genetic counseling of the family.
Child ; Family ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Mutation ; Whole Exome Sequencing

Objectives To investigate the clinical features of progressive familial intrahepatic cholestasis type 2 (PFIC2) and to illustrate the importance of genetic diagnosis. Methods The mutations in 27 exons of ABCB11 encoding bile salt export pump (BSEP) were identiifed using polymerase chain reaction (PCR) and direct DNA sequencing in 6 children with suspected PFIC2. The pathogenicity of the newly identiifed mutations were predicted by SIFT, PolyPhen-2, SNPs&GO software. The clini-cal features and laboratory examinations were reviewed. Results Four disease-causing mutations, p.R928*, p.E554K, p.R575Q and p.Y337H were identiifed, and the last three mutations were novel. These three kinds of novel mutations can cause the disease. Two children with genetic diagnosis had such manifestations as onset within a month after birth, jaundice, hepatosplenomegaly, upset, increased levels of total bilirubin and direct bilirubin, GGT<100 U/L and high levels of total bile acid. Conclusions Genetic diagnosis is a potent tool for clinical diagnosis of PFIC2.

Objective To study the management and curative effect of the thyroid cancer suspected clinically but with inconclusive frozen-section intraoperatively. Methods The clinical data of 29 consecutive cases of thyroid cancer suspected clinically but with inconclusive frozen-section intraoperatively admitted to our hospital during Jan 1980 to Dec 1999 were analyzed retrospectively. Results Among these 31 suspected patients 29 were negative on frozen-section but confirmed thyroid cancer on postoperative paraffin-section. 20 underwent total involved lobe thyroidectomy in one-stage and other 11 as a second stage. No case recurred or metastased in the follow-up. Complication incidence was significantly different between one-stage and two-stage procedure (P

Objective To study the diagnosis and treatment of occult thyroid cancer with metastasis. Methods The clinical data of 18 cases of occult thyroid cancer with metastasis were analyzed retrospectively . Results All cases underwent operations. No death occurred during the operation and hospitalization .Postoperative metastasis occurred in 5 cases(27.8%). There was significant difference between the patients with metastasis and the other 100 patients without metastasis(P