OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ). METHODS: A child with OFDSⅠ who received treatment at the Women and Children's Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children's Hospital (Ethic No.: EC 2024-063). RESULTS: The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c.710dup (p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child's parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+PS4_Moderate+PM2-Supporting+PM6_Supporting+PP4). CONCLUSION Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c.710dup (p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.
Humans ; Female ; Orofaciodigital Syndromes/genetics* ; Exome Sequencing ; Retrospective Studies ; Mutation ; Child ; Proteins

Objective:To investigate the predictive value of atherogenic index of plasma (AIP) in the assessment of acute pancreatitis (AP).Methods:598 patients diagnosed with AP admitted to the Affiliated Hospital of Yangzhou University between January 2016 and December 2020 were recruited and divided into severe acute pancreatitis group (SAP group, n=57) and non-severe acute pancreatitis group (non SAP group, n=541) according to the Atlanta Classification (2012 revision). General clinical data and related biochemical indicators of all enrolled patients were collected, and Bedside Index of Acute Pancreatitis Severity (BISAP) score, Ranson score and CT Severity Index (CTSI) score were performed. The risk factors of SAP were analyzed by logistic regression. Receiver operating characteristic (ROC) curve was used to analyze the evaluation value of AIP and various scoring systems on the severity of pancreatitis. Results:The AIP, white blood cell (WBC), neutrophil count (NEUT), fasting blood glucose (FBG), serum total cholesterol (TC) level, proportion of hyperlipidemia, proportion of diabetes, Ranson score, BISAP score, CTSI score of patients in SAP group were higher than those in non SAP group, and the difference was statistically significant (all P<0.05). Multivariate logistic regression analysis showed that AIP was an independent risk factor for SAP ( P<0.05). ROC curve showed that the are under the curve (AUC) of SAP predicted by AIP was 0.706(95% CI: 0.631-0.782, P<0.001). Conclusions:AIP is an independent risk factor for SAP, which helps to assess the severity of AP.

Background: The systemic immune inflammation index (SII) is a reproducible biomarker of inflammatory process. Aims: To explore the predictive value of SII for severe acute pancreatitis (SAP). Methods: A total of 406 patients with acute pancreatitis (AP) from Jan. 2013 to Dec. 2020 at Affiliated Hospital of Yangzhou University were collected, and were divided into SAP group and non SAP group. ROC curve was drawn to evaluate the value of SII, NLR, PLR, CAR for predicting SAP. Results: Compared with non‑SAP group, SII, NLR, PLR, CAR were significantly increased in SAP group (P<0.05). When the best cut‑off value was 1 705.83, AUC of SII for predicting SAP was 0.754, the sensitivity was 75.47%, and the specificity was 69.12%. AUC of SII for predicting SAP was higher than that of PLR, CAR (Z=2.647, P=0.007; Z= 2.616, P=0.008), while no significant difference was found between SII and NLR (P>0.05). And no significant difference in AUC was found between PLR and CAR (P>0.05). Conclusions: SII is a good new hematological index that can be used to predict the severity of AP, its predictive ability is similar to NLR, better than PLR and CAR.

Objective To investigate protective activity against Aβ25-35-induced cytotoxicity in PC12 cells of different extracts and ursolic acid, which were isolated from pyrola decorata. Methods Aβ25-35-induced cytotoxicity in PC12 cells was established as the model in vitro. The cultured PC12 cells were divided into blank control group, DMSO control group, model control group, different extract groups of pyrola decorate and ursolic acid(UA) group. The different extract groups included ether extract (PE), acetidin extract (AE), n-butanol extract (BE), the water extract (WE), 50% ethanol extract (HEE). MTT assay was used to test the optimum concentration, and the number of viable cells in culture medium was measured by ELISA at 490 nm wavelength. Results The cell viabilities in different extracts groups(PE, AE, BE, WE, HEE) were respectively 89.3%, 77.2%, 79. 2%, 75. 1% ,74. 0% at the concentration of 5. 0 mg ? mL-1 . Moreover, ursolic acid showed the best neuroprotective activity (88.9%) at the concentration of 500 μg?L-1 . Compared with model control group, the survival rate of each group was remarkably increased, and the protective activities of PE and UA were more significant among them. Conclusion Different polar extracts of pyrola decorata and isolated ursolic acid have neuroprotective effects on Aβ25-35-induced cytotoxicity in PC12 cells in certain degrees.

0. 05]. After sublingual glycerytrinitrate administration,the diameter of the brachial artery dilated significantly [(4.26?0.54) mm vs (4.73?0.43) mm, P 0.05]. Sublingual glycerytrinitrate administration dilated the brachial artery significantly [(4. 37? 0.77) mm vs (4. 82?0. 60) mm, P