The advancement of computers and data explosion have ushered in the third wave of artificial intelligence(AI). AI is an interdisciplinary field that encompasses new ideas, new theories, and new technologies, etc. AI has brought convenience to ophthalmology application and promoted its intelligent, precise, and minimally invasive development. At present, AI has been widely applied in various fields of ophthalmology, especially in oculoplastic surgery. AI has made rapid progress in image detection, facial recognition, etc., and its performance and accuracy have even surpassed humans in some aspects. This article reviews the relevant research and applications of AI in oculoplastic surgery, including ptosis, single eyelid, pouch, eyelid mass, and exophthalmos, and discusses the challenges and opportunities faced by AI in oculoplastic surgery, and provides prospects for its future development, aiming to provide new ideas for the development of AI in oculoplastic surgery.

In recent years， NOD-like receptor protein 3 （NLRP3） inflammasome in tumors has become a research hotspot， especially in melanoma， colorectal cancer， lung cancer， and breast cancer， and more and more evidence has shown that inflammation plays a role in the development， progression， angiogenesis， and invasion of cancer. Hepatocellular carcinoma （HCC） is the most common type of primary liver cancer， and there are still controversies over the role of NLRP3 inflammasome in the development and progression of HCC. Therefore， this article reviews the potential impact of NLRP3 inflammasome in the progression of HCC and its mechanism of action in anticancer therapy， and it is believed that NLRP3 inflammasome can be used as an effective therapeutic target for HCC patients.

ObjectiveUsing the Delphi method and analytic hierarchy process （AHP） to screen diagnostic items for qi stagnation syndrome and determine their weights， providing a reference for the development of a diagnostic scale of qi stagnation syndrome. MethodsLiterature related to qi stagnation syndrome were screened from databases including CNKI， Wanfang， VIP， SinoMed （from inception to October 31， 2020）. Through systematic review of literature and expert discussions， the information on the four examinations of traditional Chinese medicine were organized and an item pool was constructed. The Delphi method was used to screen the item indicators， while the AHP was employed to determine their weights. Statistical methods such as mean value， full score ratio， rank sum， unimportant percentage， and coefficient of variation were used for item screening， with the weights calculated by AHP serving as the item weights. ResultsA total of 235 articles and books were included for analysis， resulting in an item pool of 16 items. After three rounds of expert consultation， a total of 84 valid questionnaires were collected， with a total expert enthusiasm coefficient of 99% and authority coefficient of 0.86， 0.84， 0.83， respectively， and the coordination coefficients were 0.45， 0.49， and 0.29， respectively. Through the statistics analysis， 8 diagnosis items were screened out， including distension （stuffi-ness） or distending pain or scurrying pain， wiry pulse， depressed emotions， frequent sighing， deep and wiry pulse， irritability， pale red tongue， and thin white coating. The AHP showed that the order of weights of the first-level indicators from high to low was clinical symptoms， pulse manifestation， and tongue manifestation； the order of weights of the second-level indicators from high to low was distension （stuffiness） or distending pain or scurrying pain， wiry pulse， depressed emotions， frequent sighing， deep and wiry pulse， irritability， pale red tongue， and thin white coating. ConclusionBy applying the Delphi method and AHP to analyze and evaluate the diagnostic items for qi stagnation syndrome， key diagnostic items were screened and their weights determined， laying the foundation for the development of a diagnostic scale for qi stagnation syndrome.

The incidence of osteoporotic thoracolumbar vertebral fracture (OTLVF) in the elderly is gradually increasing. The kyphotic deformity caused by various factors has become an important characteristic of OTLVF and has received increasing attention. Its clinical manifestations include pain, delayed nerve damage, sagittal imbalance, etc. Currently, the definition and diagnosis of OTLVF with kyphotic deformity in the elderly are still unclear. Although there are many treatment options, they are controversial. Existing guidelines or consensuses pay little attention to this type of fracture with kyphotic deformity. To this end, the Lumbar Education Working Group of the Spine Branch of the Chinese Medicine Education Association and Editorial Committee of Chinese Journal of Trauma organized the experts in the relevant fields to jointly develop Clinical guidelines for the diagnosis and treatment of osteoporotic thoracolumbar vertebral fractures with kyphotic deformity in the elderly ( version 2024), based on evidence-based medical advancements and the principles of scientificity, practicality, and advanced nature, which provided 18 recommendations to standardize the clinical diagnosis and treatment.

OBJECTIVE: To explore the genetic basis for a Chinese patient with retinitis pigmentosa (RP). METHODS: Whole exome sequencing (WES) was carried out to screen potential variant in the proband. Candidate variants were determined by taking consideration of clinical phenotype. Sanger sequencing was used to verify the variant in the proband and his parents. RESULTS: The proband was found to harbor compound heterozygous variants of c.8G>A (p.Cys3Tyr) and c.958_959insA (p.Arg320Glnfs*29) in the C2ORF71 gene, which has derived from his father and mother, respectively. Both variants were unreported previously. Based on the ACMG guidelines, they were predicted to be likely pathogenic and pathogenic, respectively. CONCLUSION The novel compound heterozygous variants of the C2ORF71 gene probably underlay the pathogenesis of RP in the proband. Above finding has enriched the spectrum of C2ORF71 gene mutations and facilitated genetic counseling for the family.
Asians/genetics* ; China ; Humans ; Mutation ; Pedigree ; Retinitis Pigmentosa/genetics* ; Whole Exome Sequencing

Osteoporotic thoracolumbar fracture in the elderly will seriously reduce their quality of life and life expectancy. For osteoporotic thoracolumbar fracture in the elderly, spinal reconstruction is necessary, which should comprehensively consider factors such as the physical condition, fracture type, clinical characteristics and osteoporosis degree. While there lacks relevant clinical norms or guidelines on selection of spinal reconstruction strategies. In order to standardize the concept of spinal reconstruction for osteoporotic thoracolumbar fracture in the elderly, based on the principles of scientificity, practicality and progressiveness, the authors formulated the Clinical guideline for spinal reconstruction of osteoporotic thoracolumbar fracture in elderly patients ( version 2022), in which suggestions based on evidence of evidence-based medicine were put forward upon 10 important issues related to the fracture classification, non-operative treatment strategies and surgical treatment strategies in spinal reconstruction after osteoporosis thoracolumbar fracture in the elderly, hoping to provide a reference for clinical treatment.

Objective:To investigate the clinical characteristics, pathological features and surgical efficacy of adult gangliogliomas.Methods:Seven patients with gangliogliomas underwent surgical treatment in our hospital from August 2010 to December 2021, were chosen; their clinical data were retrospectively analyzed, and the CT and MRI manifestations and histopathological features of gangliogliomas and surgical efficacy of these patients were concluded.Results:In these 7 patients, solid-mass type was identified in 1 patient, cystic-solid mixed type in 4 patients, and diffuse infiltrating type in 2 patients. The solid part showed slightly low or equal density on CT, and mostly showed slightly low signal on T1, slightly high signal on T2, high or slightly high signal on T2 FLAIR, and equisignal or slightly low signal on DWI of MRI. Immunohistochemical staining showed that in the tumor specimens, glial cell components were positive for glial fibrillary acidic protein, oligodendrocyte transcription factor and S-100 protein, and ganglion cell components were positive for neuronal nuclear antigen and synaptophysin. Gross total resection was achieved in 5 patients, subtotal resection in 1 patient, and partial resection in 1 patient; gangliogliomas without total resection were diffuse infiltrative type. The median Karnofsky performance status scores were 80. There was no death during the follow-up period of 7 months-11 years.Conclusions:Adult gangliogliomas are mostly cystic and solid lesions with clear boundary on imaging, and the histopathological characteristics of mixed neoplastic ganglion cells and glial cells are the main basis for their diagnosis. The surgical efficacy is usually good, but the diffuse infiltrating type is difficult to achieve total resection.

Objective:To investigate the clinical characteristics, pathological features and surgical efficacy of adult gangliogliomas.Methods:Seven patients with gangliogliomas underwent surgical treatment in our hospital from August 2010 to December 2021, were chosen; their clinical data were retrospectively analyzed, and the CT and MRI manifestations and histopathological features of gangliogliomas and surgical efficacy of these patients were concluded.Results:In these 7 patients, solid-mass type was identified in 1 patient, cystic-solid mixed type in 4 patients, and diffuse infiltrating type in 2 patients. The solid part showed slightly low or equal density on CT, and mostly showed slightly low signal on T1, slightly high signal on T2, high or slightly high signal on T2 FLAIR, and equisignal or slightly low signal on DWI of MRI. Immunohistochemical staining showed that in the tumor specimens, glial cell components were positive for glial fibrillary acidic protein, oligodendrocyte transcription factor and S-100 protein, and ganglion cell components were positive for neuronal nuclear antigen and synaptophysin. Gross total resection was achieved in 5 patients, subtotal resection in 1 patient, and partial resection in 1 patient; gangliogliomas without total resection were diffuse infiltrative type. The median Karnofsky performance status scores were 80. There was no death during the follow-up period of 7 months-11 years.Conclusions:Adult gangliogliomas are mostly cystic and solid lesions with clear boundary on imaging, and the histopathological characteristics of mixed neoplastic ganglion cells and glial cells are the main basis for their diagnosis. The surgical efficacy is usually good, but the diffuse infiltrating type is difficult to achieve total resection.

Objective:To investigate the characteristics and causes of endplate injury in the oblique lateral interbody fusion for the treatment of lumbar diseases, and summarize the precaution of endplate injury.Methods:Thirty-five cases of endplate injury were observed, which were originally treated with oblique lateral interbody fusion with or without pedicle screw fixation from October 2014 to December 2017. There were 7 males and 28 females, and the age ranged from 51 to 78 years old (averagely 62.8±8.13 years). There were 2 cases of lumbar disc degeneration, 10 cases of lumbar canal stenosis, 17 cases of lumbar degenerative spondylolisthesis, 2 cases of lumbar spondylolysis with or without spondylolisthesis, and 4 cases of lumbar degenerative scoliosis. Lesion sites contained L 3,4 in 2 cases, L 4,5 in 21 cases, L 2-4 in 3 cases, L 3-5 in 4 cases, L 2-5 in 3 cases and L 1-5 in 2 cases. Preoperative bone mineral density examination revealed there were 7 cases of T>-1 SD, 24 cases of -2.5 SD

OBJECTIVE: To analyze the clinical characteristics and genetic features of a family affected with isolated proteinuria. METHODS: Clinical data of the family was collected. Mutations of 191 renal disease-related genes in the proband were screened with next generation sequencing (NGS). Sanger sequencing was used to verify suspected mutations in his family members and 100 healthy controls. The impact of the mutation was predicted with online software SIFT. Frequency of the mutation was searched in databases including 1000 Genomic Project, ESP and ExAC. RESULTS: NGS and Sanger sequencing showed that the proband harbored compound heterozygous mutations of ADCK4 gene including c.748C>G (p.Asp250His) and c.1041G>T (p.Cys347*), which were respectively inherited from his mother and father whom were both non-symptomatic. CONCLUSION The proband may have ADCK4-associated glomerulopathy due to the compound heterozygous mutations of the ADCK4 gene.
DNA Mutational Analysis ; Family ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Proteinuria ; genetics