AIM:To investigate the safety and efficacy of selecting implantable collamer lens(ICL)size for postoperative vaults using sulcus to sulcus(STS)and other data measured by ultrasound biomicroscopy(UBM), and to explore the relevant factors affecting vaults.METHODS: Prospective case observational study. A total of 95 patients(188 eyes)with ametropia who underwent ICL size optimization and 90 patients(174 eyes)without ICL size optimization, from January to December 2022 and underwent regular follow-up for 6 mo were selected. Patients were divided into an optimized group and a standard group based on whether ICL size optimization was performed. The patients were followed up at 1 d, 1 wk, 1, 3, and 6 mo, and uncorrected visual acuity(UCVA), best corrected visual acuity(BCVA), refraction state, intraocular pressure(IOP), corneal status, anterior chamber depth(ACD), angle opening, vaults and corneal endothelial cell count were collected.RESULTS: No significant difference in spherical equivalent, UCVA and BCVA was found between the two groups(all P >0.05). The safety index was 1.21±0.24 and 1.19±0.21 at 6 mo for the two groups, respectively, while the efficacy index were 1.18±0.22 and 1.07±0.26. The vaults at 6 mo for the two groups was 407.77±159.31 and 467.16±250.07 μm, respectively. In the optimization group, 92.0% of eyes achieved the desired vaults postoperatively, while 74.1% of eyes in the standard group reached the desired vaults. Both groups exhibited a slight downward trend in vaults over time, with no significant differences between the two groups(F=3.478, P=0.063). However, the standard group experienced 6 eyes of ICL replacement and 2 eyes of ICL removal due to acute angle-closure glaucoma induced by angle closure.CONCLUSION: Selecting the ICL size and determining the implantation orientation based on sulcus to sulcus(STS)and other data measured by UBM provides good safety, efficacy, and predictability for postoperative vaults.

AIM:To investigate the safety and efficacy of selecting implantable collamer lens(ICL)size for postoperative vaults using sulcus to sulcus(STS)and other data measured by ultrasound biomicroscopy(UBM), and to explore the relevant factors affecting vaults.METHODS: Prospective case observational study. A total of 95 patients(188 eyes)with ametropia who underwent ICL size optimization and 90 patients(174 eyes)without ICL size optimization, from January to December 2022 and underwent regular follow-up for 6 mo were selected. Patients were divided into an optimized group and a standard group based on whether ICL size optimization was performed. The patients were followed up at 1 d, 1 wk, 1, 3, and 6 mo, and uncorrected visual acuity(UCVA), best corrected visual acuity(BCVA), refraction state, intraocular pressure(IOP), corneal status, anterior chamber depth(ACD), angle opening, vaults and corneal endothelial cell count were collected.RESULTS: No significant difference in spherical equivalent, UCVA and BCVA was found between the two groups(all P >0.05). The safety index was 1.21±0.24 and 1.19±0.21 at 6 mo for the two groups, respectively, while the efficacy index were 1.18±0.22 and 1.07±0.26. The vaults at 6 mo for the two groups was 407.77±159.31 and 467.16±250.07 μm, respectively. In the optimization group, 92.0% of eyes achieved the desired vaults postoperatively, while 74.1% of eyes in the standard group reached the desired vaults. Both groups exhibited a slight downward trend in vaults over time, with no significant differences between the two groups(F=3.478, P=0.063). However, the standard group experienced 6 eyes of ICL replacement and 2 eyes of ICL removal due to acute angle-closure glaucoma induced by angle closure.CONCLUSION: Selecting the ICL size and determining the implantation orientation based on sulcus to sulcus(STS)and other data measured by UBM provides good safety, efficacy, and predictability for postoperative vaults.

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree with recurrent Joubert syndrome with negative results by whole-exome sequencing in the prior proband. METHODS: Chinese pedigree which opted elective abortion at the Women and Children's Hospital Affiliated to Chongqing Medical University in December 2024 was selected as the study subject. Whole-genome sequencing was carried out on fetal tissue after termination of pregnancy. Candidate variants were validated by Sanger sequencing and interpreted, while non-coding variant was analyzed using in silico prediction tools. RNA sequencing and cDNA sequencing were conducted on fetal brain tissue. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.2024YL045-02). RESULTS: Both the fetus and the affected child were found to harbor compound heterozygous variants of the CEP290 gene, namely c.7341dup (p.Leu2448fs*8) (pathogenic, maternally inherited) and c.1523-408G>A (likely pathogenic, paternally inherited). Both in silico analysis and fetal brain RNA sequencing confirmed aberrant RNA splicing caused by the intronic variant. CONCLUSION This case has highlighted the value of combining whole-genome sequencing with RNA functional validation. Above results not only enriched the spectrum of CEP290 gene mutations but also underscored its diagnostic value in resolving complex prenatal cases, providing critical clues for the prenatal diagnosis and recurrence risk assessment in genetic counseling.
Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics* ; Antigens, Neoplasm/genetics* ; Cell Cycle Proteins/genetics* ; Cerebellum/abnormalities* ; Cytoskeletal Proteins/genetics* ; Eye Abnormalities/genetics* ; Introns/genetics* ; Kidney Diseases, Cystic/diagnosis* ; Pedigree ; Retina/abnormalities* ; Sequence Analysis, RNA/methods* ; Whole Genome Sequencing/methods* ; Child

The biotransformation processes in the human body play a crucial role in maintaining the inter-nal environment's stability by converting exogenous compounds and endogenous metabolites into substances with increased polarity or water solubility.This alteration in toxicity or pharmacological effects facilitates their excretion from the body.Sulfation,an important type of phase Ⅱ biotransformation reaction,is primarily me-diated by members of the cytosolic sulfotransferases(also known as sulfotransferases,SULTs)superfamily.Recent studies have uncovered the significant roles of SULTs in drug metabolism,tumorigenesis,inflammato-ry responses,hormone regulation,and energy metabolism.This article provides a comprehensive review of the regulatory roles and molecular mechanisms of the SULTs superfamily members in carbohydrate and lipid me-tabolism,aiming to offer new insights into the mechanism research and drug development for disorders related to carbohydrate and lipid metabolism dysregulation.

Objective:To construct a predictive model for postoperative delirium (POD) in patients undergoing gastrointestinal surgery using machine learning.Methods:This retrospective study used clinical data from patients who underwent gastrointestinal surgery at Subei People′s Hospital between September 2022 and April 2024. The entire dataset was randomly divided into the training and validation sets in an 8∶2 ratio. Multivariate logistic regression analysis was conducted to identify the factors influencing POD. Eleven machine learning models were established and compared. The performance of the models was validated using metrics, including accuracy, precision, recall, Youden′s index, F1 score, Matthews′ correlation coefficient, Kappa coefficient, log loss, and Brier score. Receiver operating characteristic and calibration curves were plotted to assess the discrimination and consistency of the model. Shapley additive explanations were used in Python for interpretative analysis of the model with the best predictive performance, and the importance of the feature parameters was ranked.Results:A total of 1, 785 patients were ultimately included, of which 833 (46.67%) experienced POD. The results of multivariate logistic regression analysis revealed that advanced age, lower preoperative serum calcium ion concentration, postoperative pulmonary infection, and higher preoperative systolic blood pressure were independent risk factors for POD in patients undergoing gastrointestinal surgery, while laparoscopic surgery was a protective factor ( P<0.05). Among the 11 machine learning models, the categorical feature gradient boosting model exhibited the best performance, with an area under the receiver operating characteristic curve of 0.82 (95% confidence interval 0.77-0.87). The ranking of feature importance indicated that age had the greatest contribution in predicting POD. Conclusions:The predictive model for POD established based on the categorical boosting algorithm has higher predictive efficacy and clinical application value in patients undergoing gastrointestinal surgery.

Objective:To evaluate the role of NOD-like receptor protein 3 (NLRP3) inflammasome-mediated microglia activation in myocardial ischaemia-reperfusion-induced brain injury in mice.Methods:Fifty-two SPF healthy male wild-type C57BL/6 mice and 52 NLRP3 -/- mice, aged 8-10 weeks, were divided into 4 groups ( n=26 each) using a random number table method: wild type sham operation group (W-S group), wild type myocardial ischemia-reperfusion group (W-IR group), NLRP3 -/- sham operation group (NLRP3 -/--S group), and NLRP3 -/- myocardial ischemia-reperfusion group (NLRP3 -/--IR group). The myocardial ischemia-reperfusion-induced brain injury model was established by ligating the left anterior descending coronary artery for 45 min followed by 24 h of reperfusion in anesthetized mice. The cognitive function was evaluated using the modified Morris water maze test at 24 h of reperfusion. The mice were sacrificed after blood specimens were collected, and brain tissues were obtained for measurement of the blood-brain barrier permeability and water content, for microscopic examination of the pathological changes of brain tissues, and for determination of serum S-100β protein and neuron-specific enolase (NSE) concentrations, contents of interleukin-1 beta (IL-1β), IL-6 and tumor necrosis factor-alpha (TNF-α) in hippocampal tissues (by enzyme-linked immunosorbent assay), expression of NLRP3, apoptosis-associated speck-like protein (ASC), cleaved cysteine aspartate protease 1 (cleaved-caspase-1), gasdermin D (GSDMD), ionized calcium-binding adapter molecule 1 (Iba-1), and occludin in hippocampal tissues (by immunofluorescence and/or Western blot). The apoptosis rate of neurons and density of dendritic spine were calculated. Results:Compared with sham operation group, the escape latency was significantly prolonged, the number of crossing the original platform was decreased, and the time spent in the target quadrant was shortened, the concentrations of serum S-100β protein and NSE were increased, the blood-brain barrier permeability and brain water content were increased, the dendritic spine density in the hippocampal CA1 area was decreased, the contents of IL-1β, IL-6 and TNF-α were increased, the expression of NLRP3, ASC, cleaved-caspase-1, GSDMD and Iba-1 was up-regulated, and the expression of occludin was down-regulated ( P<0.05), and the pathological injury to brain tissues was found in ischemia-reperfusion group. Compared with W-IR group, the escape latency was significantly shortened, the number of crossing the original platform was increased, and the time spent in the target quadrant was prolonged, the concentrations of serum S-100β protein and NSE were decreased, the blood-brain barrier permeability and brain water content were decreased, the dendritic spine density in the hippocampal CA1 area was increased, the contents of IL-1β, IL-6 and TNF-α were decreased, the expression of NLRP3, ASC, cleaved-caspase-1, GSDMD and Iba-1 was down-regulated, and the expression of occludin was up-regulated ( P<0.05), and the pathological injury to brain tissues was alleviated in NLRP3 -/--IR group. Conclusions:NLRP3 inflammasome-mediated microglia activation is involved in myocardial ischaemia-reperfusion-induced brain injury in mice.

In the pathological process of acute lung injury,uncontrolled inflammatory response will lead to severe consequences,and pyroptosis plays a vital factor in a cell programmed inflammatory necrosis.When the body is imbalanced due to excessive pyroptosis,it can lead to lung injury in the lungs.TCM emphasizes the balance of the body and the balance of yin and yang.Based on the"yin-yang"theory and"pathogenic factors and healthy qi"theory of TCM,this article discussed the yin-yang changes,growth and decline,and opposing constraints of cell pyroptosis in the occurrence and development of acute lung injury at the cellular level,and explained the possible basis of TCM in preventing and treating cell pyroptosis,providing theoretical reference for the intervention of TCM in the prevention and treatment of acute lung injury with cell pyroptosis.

Uveal melanoma (UM) is a common type of adult ocular malignancy, and its metastasis potential and prognosis are closely related to tumor stage, histopathological features and genetic molecular markers. Currently, eyeball-preserving radiation therapy, including adhesive radiotherapy and proton beam radiotherapy, has become the preferred method for UM treatment. Despite this, overall survival is low, with about 50% of patients eventually developing distant metastases. Recently, remarkable progress has been made in the field of treatment for metastatic uveal melanoma, especially in the development of new technologies and new drugs. These advances reduce the risk of tumor metastasis and spread while improving the cure rate for patients. Tibenfox is a major breakthrough in the treatment of UM. Through these explorations, it is hoped that in the future, early diagnosis of the disease can guide prognosis assessment and implement personalized treatment strategies aimed at protecting patient vision, controlling tumor metastasis, and improving survival.

Objective:To explore the genetic etiology of a Chinese pedigree with recurrent Joubert syndrome with negative results by whole-exome sequencing in the prior proband.Methods:A Chinese pedigree which opted elective abortion at the Women and Children′s Hospital Affiliated to Chongqing Medical University in December 2024 was selected as the study subject. Whole-genome sequencing was carried out on fetal tissue after termination of pregnancy. Candidate variants were validated by Sanger sequencing and interpreted, while non-coding variant was analyzed using in silico prediction tools. RNA sequencing and cDNA sequencing were conducted on fetal brain tissue. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.2024YL045-02). Results:Both the fetus and the affected child were found to harbor compound heterozygous variants of the CEP290 gene, namely c. 7341dup (p.Leu2448fs*8) (pathogenic, maternally inherited) and c. 1523-408G>A (likely pathogenic, paternally inherited). Both in silico analysis and fetal brain RNA sequencing confirmed aberrant RNA splicing caused by the intronic variant. Conclusion:This case has highlighted the value of combining whole-genome sequencing with RNA functional validation. Above results not only enriched the spectrum of CEP290 gene mutations but also underscored its diagnostic value in resolving complex prenatal cases, providing critical clues for the prenatal diagnosis and recurrence risk assessment in genetic counseling.

Hepatic ischemia-reperfusion injury （HIRI） is an inevitable major complication during surgical procedures such as liver transplantation and partial hepatectomy， and its prevention and treatment are hotspots and difficulties in clinical practice. This article reviews the mechanism of injury caused by energy metabolism disorders during liver ischemia-reperfusion and related treatment strategies and summarizes the current advances in metabolism-related therapies， in order to provide new ideas for further clarifying the onset mechanism of HIRI and exploring effective clinical prevention and treatment strategies for HIRI.