Objective:To investigate the clinical features and characteristics of gene mutation of patients with Hereditary spherocytosis(HS) and report novel mutations found in this work.Method:We reviewed the literatures for the clinical and genetic features of the 35 patients (24 boys and 11 girls, median age 7.8 years) with HS admitted to Wuhan Children′s Hospital from June 2017 to January 2023. Analyze clinical manifestations the blood routine, and biochemical laboratory results, and use Next-generation sequencing (NGS) to detect pathogenic mutation. Mann-Whitney U testing method was used to analyze the hematological parameters between different genotypes. Results:All of the patients showed clinical manifestations of anemia; 33 children had jaundice, 28 children had splenomegaly, and 11 children had gallstones. Gene mutations were detected in all 35 patients. 17 patients carried ANK1 variants, 14 patients harbored SPTB variants, 1 patient carried SPTA1variants, 1 patient carried SLC4A1 variants, and 2 patients harbored both ANK1 and SPTB variants. A total of 39 heterozygous mutations were found, among which 27 were pathogenic, 6 was likely pathogenic and 6 were of unknown significance according to the ACMG guideline; Among 39 mutations identified, 31 were novel. There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the ANK1 mutant group and the SPTB group (all P>0.05). Conclusion:SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hubei, China, and there was no significant difference in phenotype between ANK1 and SPTB genotype. We found 31 unreported novel variants and expanded the spectrum of variation in this type of disease .

Objective:To investigate the mechanism of Candida albicans Int1 in regulating septin organization. Methods:A series of full-length and truncated fragments of Int1 were constructed and fused with green fluorescent protein (GFP). The intracellular localization of the fusion proteins was observed under a fluorescence microscope. The region in Int1 that was required for bud neck localization was identified. Full-length and fragments of Int1 were overexpressed in the yeast Saccharomyces cerevisiae and the changes in cell growth, cell morphology and septin organization were investigated to determine the functional region in Int1 that mediated the interaction with septin. Moreover, the co-localization of the region and septin was analyzed. Results:The full-length Int1 consisted of 1 661 amino acid residues. A middle region of 209 amino acid residues, Int1-M4 (739-947 aa), that could be localized at the bud neck during both small and large bud periods was identified. Overexpression of Int1-M4 led to significant growth defects, elongated bud and disorganized septin. In the cells with elongated bud, Int1-M4 and septin with abnormal structures could be co-localized.Conclusions:Int1-M4 (739-947 aa), the middle region of Int1 containing 209 amino acid residues, mediated the bud neck localization and the interaction with septin, playing an important role in regulating septin organization.

The clinical data of 2 patients with LIG4 syndrome who presented to Wuhan Children′s Hospital from May 2020 to December 2021 were retrospectively analyzed and genetically analyzed. Both patients were male, aged from 5 months to 3 years. The clinical presentations were scattered rash and repeated infections (bacterial infection, EB virus, cytomegalovirus, etc). Laboratory tests showed that the neutrophil and lymphocyte counts decreased. Immunoassay revealed a significant is CD4+T, CD8+T, CD19+B lymphocytes and NK. By Whole exome sequencing, we found 2 inherited mutations inherited in the LIG4 gene (c.833G>T and c.1271_1275delAAAGA) from patient1, and another 2 inherited mutations (c.980T>G, c.1271_1275del) from patient 2. In this study, we found two new variants of LIG4 gene and expanded the mutation spectrum of this gene.

Methods:Two thousand standard sections images werre collected from 2 000 clinical retrospective pediatric hip ultrasound videos from January 2019 to January 2021. All standard sections were annotated by the annotation team through the self-designed software based on Python 3.6 environment for image cross-media data annotation and manual review standardization process with unified standards. Among them, 1 753 were randomly selected for training the deep learning system, and the remaining 247 were used for testing the system. Further, 200 standard sections were randomly selected from the test set, and 8 clinicians independently completed the film reading annotation. The 8 independent results were then compared with the AI results.Results:The testing set consists of 247 patients. Compared with the clinician's measurements, the area under the receiver operating characteristic curve (AUC) of diagnosing hip joint maturity was 0.865, the sensitivity was 76.19%, and the specificity was 96.9%. The AUC of AI system interpretation under Graf detailed typing was 0.575, the sensitivity was 25.90%, the specificity was 89.10%. The 95% LoA of α-angle determined by Bland-Altman method, of -4.7051° to 6.5948° ( Bias -0.94, P<0.001), compared with clinicians' measurements. The 95% LoA of β-angle, of -7.7191 to 6.8777 ( Bias -0.42, P=0.077). Compared with those from 8 clinicians, the results of AI system interpretation were more stable, and the β-angle effect was more prominent. Conclusion:The AI system can quickly and accurately measure the Graf correlation index of standard DDH ultrasonic standard diagnosis plane.

Objective Based on Chinese guidelines for the management of ischemic stroke, a standardized stroke management program was performed to provide intensive education and training for medical physicians, aiming to enhance their knowledge and ability for ischemic stroke prevention and treatment, thereby reducing patients′ in-hospital cost and length of stay, and improving patients′ clinical prognosis. Methods This study was conducted in 20 general hospitals throughout Hainan province. A total of 163 physicians from 20 hospitals involved in the management of stroke patients were trained by highly experienced physicians based on the Chinese guidelines for diagnosis and treatment of acute ischemic stroke 2014 and the Chinese guidelines for secondary prevention of ischemic stroke and transient ischemic attack 2014. Prior to and post the standardized stroke management training, the data of 3218 and 3367 patients with ischemic stroke were respectively collected. Quality of life assessments including the Barthel index (BI) and the modified Rankin Scale (mRS) score of all patients were recorded at baseline and after discharge. The length of stay and in-hospital cost were directly collected from the hospital information system. Results Physicians′ knowledge and ability manifested as testing scores were significantly improved after training (78.2 ± 15.5 vs 55.6 ± 10.7, t=69.1, P<0.01). The average length of stay of post-training patients was significantly shorter than that of pre-training patients ((8.7 ± 0.9) vs (11.7 ± 1.5) days, t=97.9, P<0.01). The average in-hospital cost of post-training patients was significantly less than that of pre-training patients ((7681.7 ± 1397.7) vs (11846.2 ± 2514.6) Yuan, t=82.5, P<0.01). Both BI (68.2 ± 3.2 vs 43.5 ± 5.3, t=227.7, P<0.01) and mRS score (2.74±0.51 vs 3.65±0.71, t=59.5, P<0.01) were significantly improved for post-training patients. Multivariate linear regression analysis illustrated that standardized stroke management was negatively associated with in-hospital cost (r=-0.461, P<0.01), length of stay (r=-0.357, P<0.01) and mRS score (r=-0.298, P<0.01), and was positively associated with levels of BI (r=0.376, P<0.01). Conclusion Standardized stroke management program might be a cost-effective choice for the management of ischemic stroke as it reduces the in-hospital cost and improves patients′BI and mRS levels.

Objective To assess the diagnostic value of 3D-enhanced T2 ? weighted angiography (ESWAN )in evaluating superficial siderosis of the central nervous system (SS-CNS)after traumatic subarachnoid hemorrhage (tSAH).Methods ESWAN and GRE T2 ? WI sequence were performed on 30 patients with tSAH,detection rate and the number of distribution areas of SS-CNS were compared between the two sequences.A McNemar’s test and Wilcoxon signed-rank test were used to analyze the differences between T2 ? WI and ESWAN images sequences. Results In the tSAH group,29 of 30 patients (96.7%)showed SS-CNS on ESWAN images,the total number of SS-CNS regions was 134.Identified SS-CNS positive rate respectively was 95.8% (23/24)on ESWAN images and 66.7% (1 6/24)on T2 ? WI in 24 patients simultaneously perform ESWAN and T2 ? WI sequences.A McNemar ’s test showed that there was significant difference between the positive rates of two sequences in detecting the SS-CNS (χ2 =7.0,P <0.05).The number of SS-CNS regions on ESWAN images and T2 ? WI was 106 and 34 respectively.The Wilcoxon signed rank test showed that the number of SS-CNS regions difference between two sequences was significant (Z =-4.225,P <0.01).Conclusion Various degress of SS-CNS are detected in a majority of tSAH atients.ESWAN sequence is a reliable and efficient method for assessment of SS-CNS.

Objective To synthesize a series of 13-acylmatrine derivatives and evaluate their in vitro antitumor activity . Methods Using sophocarpine as the starting material ,a series of new compounds were synthesized through Michael addition , Staudinger reduction and acylation .The structure of target compounds were confirmed by 1 H NMR and MS techniques .Their antitumoractivityagainsthumanhepatomacells(BEL-7404)andmicemelanomacells(K111)wereevaluated invitrobyMTT assay .Results We synthesized 9 compounds and all the compounds exhibited inhibitory activities against BEL-7404 and K111 . Conclusion Compound 4b and compound 4e exhibit good in vitro antitumor activity to human hepatoma cells (BEL-7404) .

Objective: To develop an HPLC method for the determination of rutin, hyperin and quercetin in Vicia sepium L. . Methods:The samples were separated on an Agilent ZORBAX Eclipse XDB-C18 column(250 mm × 4. 6 mm, 5 μm) with the mobile phase consisting of acetonitrile-1‰ phosphoric acid solution with gradient elution at the flow rate of 0. 8 ml·min-1 . The column tem-perature was 30℃, and the detection wavelength was set at 370 nm. Results: The linear range of the three components was 4. 090-130.940 μg ·ml-1(r=0.999 9), 4.600-147.200 μg ·ml-1(r=0.999 9) and 0.810-25.780 μg·ml-1(r=0.999 8), and the average recovery was 103. 45% (RSD=1. 25%), 98. 96% (RSD=1. 77%) and 102. 88% (RSD=0. 84%)(n=6), respectively. Conclusion:The method is stable, reproducible and simple, which can be used in the quality control of Vicia sepium L. .

Objective To investigate the clinical features,diagnosis,treatment and prognosis of bladder hemangio-ma. Methods The clinical data of 12 patients with bladder hemangioma were retrospectively reviewed and analyzed in com-bination with relevant literature. Results Ten patients were treated with partial cystectomy,and two patients treated with transurethral resection of bladder tumor (TUR-BT). All patients were diagnosed as the bladder hemangioma by postoperative pathology. Patients were followed up from 4 months to 6 years. There were no recurrence and metastasis in all cases. Conclu-sion Bladder hemangioma is a rare benign tumor, which can be preliminarily diagnosed by combinating with medical imag-ing. The final diagnosis depends on the pathological examination. Treatment options should rely on the factual situations. The partial cystectomy is the first choice for the treatment of bladder hemangioma. The prognosis is good.

Objective To compare the diagnostic efficacies of narrow-band imaging (NBI) in distinguishing neoplastic from non-neoplastic colorectal lesions with routine endoscopy and with magnifying endoscopy. Methods Patients with colorectal lesions detected by NBI from September 2008 to February 2010 were enrolled in the study. These lesions were classified by pit pattern and capillary pattern, which was then assessed by reference to histopathology. Results A total of 100 patients with colorectal lesions were enrolled, and the lesions were observed by NBI with ordinary endoscopy (n =64) and NBI with magnifying endoscopy (n =36), respectively, and 7 cases (5 in NBI with ordinary endoscopy and 2 in NBI with magnifying endoscopy) which did not meet the diagnostic criteria were excluded. The overall diagnostic accuracy of NBI endoscopy in distinguishing neoplastic from non-neoplastic colorectal lesions was 91.4% ( 85/93 ), in which NBI with ordinary endoscopy and magnifying endoscopy was 89. 8% (53/59) and 94. 1% (32/34),respectively, with both significantly higher than that of conventional colonoscopy reported in the literature (79. 1% ) (P ＜ 0. 05 ). However, no significant difference was detected between 2 methods ( P ＞ 0. 05 ).Conclusion Similar with NBI magnifying endoscopy, NBI endoscopy without high magnification may also be useful to distinguish neoplastic from non-neoplastic colorectal lesions.