Macular hole is an age-related disorder defined by a full-thickness defect of the foveal retina and a profound loss of central vision. First described in the mid-19th century, its study has now extended across more than 150 years. Breakthroughs in science and technology—especially the relentless refinement of retinal imaging platforms—have progressively refined our understanding of the disease. Optical coherence tomography(OCT)in particular has revolutionized characterization of the condition. At the same time, the widespread adoption of macular hole surgery has not only driven deeper investigations into pathogenesis and pre-operative assessment but also facilitated the global dissemination of surgical expertise and a marked rise in anatomical success. This review synthesizes the multimodal imaging hallmarks of macular holes and highlights the remaining clinical challenges in the application of OCT technology.

ObjectiveTo observe the effects of Yifei Tongluo prescription on the NOD-like receptor protein 3 （NLRP3）/Caspase-1/gasdermin D （GSDMD） pathway and epithelial-mesenchymal transition （EMT） in rats with pulmonary fibrosis. MethodsTracheal instillation of bleomycin was conducted to establish a rat model of pulmonary fibrosis. Thirty Sprague-Dawley （SD） rats were randomly divided into a blank group， a model group， a prednisone acetate group （1.17 mg·kg^-1）， and low- and high-dose Yifei Tongluo prescription groups （10.62 and 21.24 g·kg^-1， respectively）. Administration started on the 7th day after modeling， once a day for 28 consecutive days. The lung coefficient of each group was calculated. The pathological changes of lung tissues in each group were observed by hematoxylin-eosin （HE） staining and Masson staining. The expression of α-smooth muscle actin （α-SMA） and vimentin in rat lung tissues was detected by immunohistochemistry. The expression of NLRP3 inflammasome， E-cadherin （E-cad）， and typeⅠ collagen （ColⅠ） in lung tissues was detected by immunofluorescence. The content of hydroxyproline （HYP）， tumor necrosis factor （TNF）-α， interleukin （IL）-18， and IL-1β in rat serum was detected by enzyme-linked immunosorbent assay （ELISA）. The mRNA expression levels of NLRP3， apoptosis-associated speck-like protein containing a CARD （ASC）， IL-1β， and transforming growth factor （TGF）-β₁ in rat lung tissues were determined by real-time quantitative polymerase chain reaction （Real-time PCR）. The protein expression levels of NLRP3， GSDMD， ASC， and Caspase-1 in rat lung tissues were determined by Western blot. ResultsCompared with the blank group， the model group exhibited a significantly increased lung coefficient （P<0.01） and significantly increased range of pulmonary interstitial inflammation and collagen deposition. In addition， the levels of α-SMA， Vimentin， E-cad， and ColⅠ in lung tissues were significantly increased （P<0.01）. The levels of fibrosis- and inflammation-related factors HYP， TNF-α， IL-18， and IL-1β in serum were significantly upregulated （P<0.01）. The levels of factors related to the activation of NLRP3 inflammasome in lung tissues， including NLRP3， GSDMD， ASC， Caspase-1， IL-1β， and TGF-β₁， were significantly upregulated （P<0.01）. Compared with the model group， the Yifei Tongluo prescription groups showed improved lung coefficients. Additionally， the extent of lung inflammation and collagen deposition was significantly reduced. The expression of α-SMA， Vimentin， E-cad， and ColⅠ in lung tissue was significantly decreased （P<0.01）. The levels of HYP， TNF-α， IL-18， and IL-1β in serum were significantly reduced （P<0.01）. The expression levels of NLRP3， GSDMD， ASC， Caspase-1， IL-1β， and TGF-β₁ in lung tissue were also significantly decreased （P<0.01）. ConclusionYifei Tongluo prescription can regulate the NLRP3/Caspase-1/GSDMD pathway， down-regulate release of pro-inflammatory and pro-fibrotic cytokines， alleviate NLRP3 inflammasome-mediated pyroptosis and EMT， and thereby improve pulmonary fibrosis in rats.

The reconstruction of the temporomandibular joint presents a multifaceted clinical challenge in the realm of head and neck surgery, underscored by its relatively infrequent occurrence and the lack of comprehensive clinical guidelines. This review aims to elucidate the available approaches for TMJ reconstruction, with a particular emphasis on recent groundbreaking advancements. The current spectrum of TMJ reconstruction integrates diverse surgical techniques, such as costochondral grafting, coronoid process grafting, revascularized fibula transfer, transport distraction osteogenesis, and alloplastic TMJ replacement. Despite the available options, a singular, universally accepted 'gold standard' for reconstructive techniques or materials remains elusive in this field. Our review comprehensively summarizes the current available methods of TMJ reconstruction, focusing on both autologous and alloplastic prostheses. It delves into the differences of each surgical technique and outlines the implications of recent technological advances, such as 3D printing, which hold the promise of enhancing surgical precision and patient outcomes. This evolutionary progress aims not only to improve the immediate results of reconstruction but also to ensure the long-term health and functionality of the TMJ, thereby improving the quality of life for patients with end-stage TMJ disorders.
Humans ; Temporomandibular Joint/surgery* ; Temporomandibular Joint Disorders/surgery* ; Transplantation, Autologous ; Arthroplasty, Replacement/methods* ; Joint Prosthesis ; Plastic Surgery Procedures/methods*

Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans ; Dental Cementum/injuries* ; Consensus ; Diagnosis, Differential ; Cone-Beam Computed Tomography ; Tooth Fractures/therapy*

Objective To explore the relationship and predictive value between serum neurofilament light chain protein(NfL),endothelial cell specific molecule-1(Endocan),B cell activating factor(BAFF)and epi-lepsy secondary to acute cerebral infarction(ACI).Methods From June 2020 to June 2023,135 patients with secondary epilepsy due to ACI admitted to the hospital were included in the epilepsy group,and 90 ACI pa-tients without secondary epilepsy admitted during the same period were included in the non-epilepsy group.The general data of the two groups and the levels of serum NfL,Endocan and BAFF were determined and compared.Multivariate Logistic regression was used to analyze the related influencing factors of epilepsy sec-ondary to ACI.The receiver operating characteristic(ROC)curve was used to analyze the predictive value of serum NfL,Endocan and BAFF for epilepsy secondary to ACI.Results Compared with non-epilepsy group,the age,the proportion of infarction lesions involving cortex,the proportion of National Institutes of Health Stroke Scale(NISSH)score≥15 points,the proportion of infarct volume＞10 cm3,the proportion of family history of epilepsy,and serum NfL,Endocan and BAFF were significantly increased in epileptic group(P＜0.05).Among patients with infarction lesions involving cortex and NISSH score ≥15 points,the expression levels of serum NfL,Endocan,and BAFF were significantly higher in those with epilepsy than in those without epilepsy(P＜0.05).Multivariate Logistic regression analysis showed that infarction involving the cortex,NISSH score ≥15 points,elevated serum NfL,Endocan and BAFF were risk factors for secondary epilepsy in ACI(P＜0.05).The results of ROC curve analysis showed that the area under the curve and specificity of the combined prediction of serum NfL,Endocan,and BAFF for secondary epilepsy in ACI were superior to those of individual detection or the combined detection of the two(P＜0.05).Conclusion The high expression of serum NfL,Endocan and BAFF are risk factors for secondary epilepsy in ACI.The combined detection of the three has a high predictive value for secondary epilepsy in ACI.

This study established the HPLC fingerprints, characteristic chromatograms, and a multi-component content determination method for Bidens bipinnata and B. biternata. The chemical pattern recognition analysis was then employed to clarify the characteristic indexes of quality differences between the two original plants of Bidentis Herba, providing a reference for establishing the quality standards of Bidentis Herba. HPLC was launched on an Agilent Poroshell 120 EC-C_(18) chromatographic column(4.6 mm×250 mm, 4 μm) by gradient elution with a mobile phase of 0.1% aqueous phosphoric acid-acetonitrile at a flow rate of 0.7 mL·min~(-1), detection wavelength of 270 nm, column temperature of 25 ℃, and an injection volume of 5 μL. The similarity between the fingerprints of 18 batches of Bidentis Herba samples and the common pattern(R) ranged from 0.572 to 0.933. A total of 23 chromatographic peaks were calibrated. Through comparison with the reference substances, six components(neochlorogenic acid, chlorogenic acid, isochlorogenic acid A, isochlorogenic acid B, rutin, and hyperoside) were identified and subjected to quantitative analysis. The characteristic fingerprints of B. bipinnata and B. biternata were calibrated with 20 and 17 characteristic peaks, respectively. Among them, peaks 8, 9, 22, and 23 were the characteristic peaks of B. bipinnata, and peak 7 was the characteristic peak of B. biternata, which can be used to distinguish the two original plants of Bidentis Herba. The relative standard deviation of the content of the above-mentioned six components ranged from 36% to 123%. The cluster analysis, principal component analysis, and orthogonal partial least squares-discriminant analysis(OPLS-DA) classified the 18 batches of Bidentis Herba samples into two categories. Additionally, through the analysis of variable importance in projection(VIP) under OPLS-DA, three characteristic indexes, rutin, isochlorogenic acid A, and isochlorogenic acid B, were identified. The analytical method established in this study can comprehensively evaluate the consistency of Bidentis Herba samples derived from different original plants, specifically identify the differential components between them, and effectively distinguish the two original plants of Bidentis Herba, providing a basis for the differentiation between different original plants and the quality control of Bidentis Herba.
Chromatography, High Pressure Liquid/methods* ; Drugs, Chinese Herbal/chemistry* ; Quality Control ; Bidens/chemistry*

Background As global environmental pollutants, chronic low-dose exposure to microplastics (MPs) is increasingly recognized for its potential risks to the nervous system. However, the molecular mechanisms linking MPs to major depressive disorder (MDD) remain unclear. Objective To investigate the mechanistic link between chronic environmentally relevant-dose MPs exposure and MDD using bioinformatics, machine learning, and molecular docking approaches, and to identify key targets and evaluate their diagnostic value. Methods Potential MPs-related targets were retrieved from the Comparative Toxicogenomics Database (CTD). Differentially expressed genes in MDD were identified using the GSE98793 dataset (128 patients and 64 healthy controls, aged 18-75 years) from the Gene Expression Omnibus (GEO). MDD-related targets were integrated from multiple databases and intersected with MPs-related genes to identify common targets. A protein-protein interaction network was constructed using the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), and hub genes were identified via six algorithms in CytoHubba. Immune infiltration analysis was performed using single-sample gene set enrichment analysis (ssGSEA) with the Bindea signature to evaluate 19 immune cell types. A competitive endogenous RNA (ceRNA) network was constructed using multiple databases. Molecular docking was performed using AutoDock Vina to evaluate binding affinities between MPs monomers and hub gene-encoded proteins. A diagnostic model was developed and validated using the GSE76826 late-onset MDD cohort (94 patients and 47 controls, age ≥50 years). Least absolute shrinkage and selection operator (Lasso) regression was applied to identify core genes, followed by single-gene gene set enrichment analysis (SG-GSEA). Results A total of 52 common MPs-MDD targets were identified. Six key genes, namely interleukin-1β (IL1B), tumor necrosis factor (TNF), interleukin 6 (IL6), peroxisome proliferator-activated receptor gamma (PPARG), catenin beta 1 (CTNNB1), and chemokine ligand 2 (CCL2), were identified and found to be enriched in neuroinflammatory responses, lipid metabolism disorders, and the Wnt/β-catenin signaling pathway. Construction of the ceRNA network revealed that 32 microRNAs (miRNAs) and 27 circular RNAs (circRNAs) had regulatory relationships with these key genes. The immune infiltration analysis showed increased peripheral eosinophils and decreased Th17 cells in MDD patients (P < 0.05). The results of molecular docking demonstrated stable binding between bisphenol A (BPA) and PPARG (ΔG=–5.82 kcal·mol⁻¹), and between styrene and IL6 (ΔG=–5.61 kcal·mol⁻¹). The diagnostic model showed excellent performance for PPARG in late-onset MDD (AUC=0.942, 95%CI: 0.899, 1.000), with a combined model AUC of 0.954 (95%CI: 0.862, 1.000). The Lasso regression model further identified CCL2 and PPARG as core regulatory genes of MPs-MDD. The SG-GSEA indicated that CCL2 was associated with immune-inflammatory pathways and mitochondrial dysfunction, while PPARG was linked to neuroplasticity and proteostasis. Conclusion Chronic low-dose MPs exposure may contribute to MDD pathogenesis through a multidimensional "immune-metabolic-neural" regulatory network. CCL2 and PPARG may serve as potential biomarkers for environmentally associated MDD, providing new molecular insights into the link between environmental pollution and neuropsychiatric disorders.

OBJECTIVE: To explore the genetic etiology for a child presenting with motor retardation, language delay, intellectual disability, and dysmorphic features. METHODS: A child presented at Linyi People's Hospital in June 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were obtained from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was validated by Sanger sequencing. Amniotic fluid samples were obtained from the mother's subsequent pregnancies for prenatal diagnosis. This study has been reviewed and approved by the Medical Ethics Committee of Linyi People's Hospital (Ethics No.: 2019-134). RESULTS: The proband was a 2-year-old girl showing developmental delays in motor, language, and intellectual domains, strabismus, hypertelorism, hearing impairment, obesity, and brachymesophalangy of the fifth finger. Magnetic resonance imaging revealed abnormalities of the white matter. Chromosomal microarray analysis (CMA) identified a 15q26.3 duplication (chr15:101562020_102060896 × 3) inherited from her mother. WES has uncovered a heterozygous c.1931A>G (p.Tyr644Cys) variant in the FBXO11 gene. Sanger sequencing confirmed the variant to be de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic. Prenatal diagnosis revealed that the fetuses from the mother's second and third pregnancies did not harbor the same variant. CONCLUSION The c.1931A>G (p.Tyr644Cys) variant of the FBXO11 gene probably underlay the abnormal phenotype in the child. Based on its genotype and phenotype, the proband was diagnosed with Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.
Humans ; Female ; Intellectual Disability/genetics* ; Child, Preschool ; F-Box Proteins/genetics* ; Protein-Arginine N-Methyltransferases/genetics* ; Exome Sequencing

OBJECTIVE: To investigate the clinical and genetic characteristics of a Chinese pedigree affected with Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) due to variant of WASF1 gene, and to review the literature on NEDALVS associated with WASF1 gene variants. METHODS: A 4-year-and-8-month-old boy with NEDALVS diagnosed at Linyi People's Hospital in July 2024 due to "discovering language development delay for more than 2 years" and his family members were selected as the study subjects. Clinical data of the family members were collected. Peripheral venous blood samples were collected from family members. Whole-exome sequencing (WES) was performed, and candidate variants were verified, by Sanger sequencing. Pathogenicity of candidate variant was classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG). Using the MUpro website, SWISS-MODEL, PyMOL, Clustal X, PolyPhen-2, and Mutation Taster software, bioinformatics analysis of protein three-dimensional structure modeling for gene mutations, cross-species conservation of mutant amino acids, and pathogenicity prediction of mutation sites. Relevant literature was retrieved from databases such as CNKI, Wanfang Data Knowledge Service Platform, and PubMed, and the clinical phenotypes and genotypes of patients with WASF1 gene mutations reported in the literature were summarized and analyzed. This study was approved by the Medical Ethics Committee of Linyi People's Hospital (Ethics No.: YX200303). RESULTS: The proband, a 4-year and 8-month-old male, mainly presented with delayed language and motor development, accompanied by autistic behaviors; the proband's younger brother was 2 years and 7 months old at the time of consultation, mainly presented with delayed language and motor development, accompanied by short stature; the proband's mother mainly presents with limited language expression and poor interpersonal interaction; the proband's maternal grandmother mainly presents with soliloquizing?behavior. The results of WES showed that the proband carried a heterozygous mutation c.214C>T (p.Arg72Cys) in the WASF1 gene, and this site has not been recorded in the database. Sanger sequencing confirmed that the proband's younger brother, mother, and maternal grandmother had harbored the same variant. Based on the guidelines from the ACMG, this variant was rated as likely pathogenic (PM2_Supporting+PP1+PP3+PP4). Through SWISS-MODEL homology modeling and PyMOL structure visualization analysis, it was further confirmed that this variant can lead to a decrease in protein stability. Amino acid sequence conservation analysis of the WASF1 protein using Clustal X software suggested that the c.214C>T (p.Arg72Cys) variant has caused replacement of a highly conserved amino acid. According to the results of PolyPhen-2 and Mutation Taster, the p.Arg72Cys variant was predicted to be a hazardous. By following the retrieval strategy set in this study, a total of 5 research articles regarding to patients with NEDALVS caused by WASF1 gene mutations were retrieved, which involved 15 patients. Combining the proband and their family members discovered in this study, there were a total of 19 NEDALVS patients. The main clinical features included: motor developmental delay (100%, 17/17), language/intellectual developmental delay (100%, 17/17), epilepsy (64.7%, 11/17), autistic behavior (76.5%, 13/17), hypotonia (70.6%, 12/17), abnormal electroencephalogram (64.7%, 11/17), and short stature (17.6%, 3/17). All 19 patients had heterozygous mutations, with 8 mutation sites. Missense mutations were the most common, accounting for 84.2% (16/19). CONCLUSION A pathogenic variant of the WASF1 gene was identified in a pedigree affected with NEDALVS. Discovery of the novel variant has, expanded the mutational spectrum of the WASF1 gene.
Child, Preschool ; Female ; Humans ; Infant ; Male ; China ; Exome Sequencing ; Mutation ; Neurodevelopmental Disorders/genetics* ; Pedigree ; Seizures/genetics* ; East Asian People/genetics*

Objective:To evaluate the efficacy and safety of IBUCy(idarubicin,busulfan,and cyclophosphamide)and FABC(fludarabine,cyta-rabine,busulfan,and cyclophosphamide)conditioning regimens followed by allogeneic hematopoietic stem cell transplantation(allo-HSCT)for the treatment of medium-to-high risk acute myelocytic leukemia(AML).Methods:We retrospectively analyzed data of 49 patients with medium-to-high risk AML who received IBUCy(n=17)or FABC(n=32)conditioning regimens followed by allo-HSCT between January 2015 and December 2021 at The First Affiliated Hospital of Chongqing Medical University.Hematopoietic reconstruction time,adverse events,and survival outcomes were compared between the two groups to assess the efficacy and safety of the two regimens.Additionally,we analyzed factors that may be associated with prognosis.Results:Hematopoietic reconstruction was successful in all 49 patients.No significant differ-ences were observed between the two groups in terms of hematopoietic reconstruction time.Similarly,no significant differences were ob-served in the 5-year progression-free survival(PFS)and overall survival(OS)rates between the two groups.The incidence rates of oral mu-cositis,nausea and vomiting,diarrhea(≥grade 3 based on CTCAE v5.0),and chronic graft-versus-host disease(GVHD)were significantly high-er in the IBUCy group than that in the FABC group.However,the incidence rate of hemorrhagic cystitis in the FABC group was significantly higher than that in the IBUCy group.The time from diagnosis to allo-HSCT>6 months and being minimal residual disease(MRD)-positive be-fore transplantation were identified as the risk factors for PFS(P=0.019 and P=0.048,respectively).Patients who were MRD-negative before transplantation had significantly longer PFS when treated with the IBUCy conditioning regimen(P=0.039).Conclusions:Both IBUCy and FABC conditioning regimens prior to allo-HSCT are safe and effective for treating medium-to-high risk AML.Allo-HSCT should be performed as soon as possible when patients achieve their first complete remission.Patients with an MRD-negative status before transplantation tend to have longer PFS.Compared with the FABC regimen,the IBUCy regimen has some advantages;however,attention should be given to the prevention and management of gastrointestinal adverse events and chronic GVHD.