Exploring the mystery of colon cancer from the perspective of molecular subtypes and treatment.

The molecular categorization of colon cancer patients remains elusive. Gene set enrichment analysis (GSEA), which investigates the dysregulated genes among tumor and normal samples, has revealed the pivotal role of epithelial-to-mesenchymal transition (EMT) in colon cancer pathogenesis. In this study, we employed multi-clustering method for grouping data, resulting in the identification of two clusters characterized by varying prognostic outcomes. These two subgroups not only displayed disparities in overall survival (OS) but also manifested variations in clinical variables, genetic mutation, and gene expression profiles. Using the nearest template prediction (NTP) method, we were able to replicate the molecular classification effectively within the original dataset and validated it across multiple independent datasets, underscoring its robust repeatability. Furthermore, we constructed two prognostic signatures tailored to each of these subgroups. Our molecular classification, centered on EMT, hold promise in offering fresh insights into the therapy strategies and prognosis assessment for colon cancer.

HOXB5 promotes the progression and metastasis of osteosarcoma cells by activating the JAK2/STAT3 signalling pathway.

Objective: To investigate the involvement of the homeobox gene B5 (HOXB5) in the progression and metastasis of osteosarcoma. Methods: The expression of HOXB5 in human osteosarcoma tissues and its correlation with clinical indicators were investigated using bioinformatics analysis and immunohistochemical labelling. Human osteosarcoma cells (HOS, MG63, U2OS, and Saos-2) and normal human osteoblasts (hFOB1.19) were cultivated. The expression of HOXB5 in these cells was detected using western blotting (WB) and RT‒PCR. Two cell lines exhibiting elevated HOXB5 expression were chosen and divided into three groups: the blank group (mock), control group (control) and transfection group (shHOXB5). The transfection group was infected with lentivirus expressing shRNAs targeting HOXB5. The transfection efficiency was detected by WB. Cell proliferation suppression was measured by CCK-8 and 5-ethynyl-2'-deoxyuridine (EdU) assays; the percentage of apoptotic cells was determined by flow cytometry; and cell migration and invasion were detected via the Transwell chamber test. WB was utilized to determine the protein expression of genes linked to metastasis (MMP2, MMP9), apoptosis (Bax, Bcl-2), and the JAK2/STAT3 pathway (JAK2, p-JAK2, STAT3, p-STAT3). Results: In osteosarcoma tissues, HOXB5 expression was elevated and strongly correlated with distant metastasis. Silencing HOXB5 reduced the proliferation, migration and invasion of osteosarcoma cells; prevented the progression and metastasis of tumours in tumour-bearing nude mice; and reduced the activation of key proteins in the JAK2/STAT3 signalling pathway. Conclusion: Through the JAK2/STAT3 signalling pathway, HOXB5 plays a crucial role in the malignant progression of osteosarcoma and is a promising target for osteosarcoma treatment.

Patient-centred pathology reporting improves patient experience and understanding of disease in prostate cancer care.

Introduction and Objectives: Patient-centred (PC) and holistic care improves patient satisfaction and health outcomes. We sought to investigate the benefit of utilising a PC pathology report in patients undergoing radical prostatectomy (RP) for prostate cancer (PCa). Our study aimed to evaluate and compare patient understanding of their PCa diagnosis after RP, upon receiving either a standard histopathology report or a personalised and PC report (PCR). Moreover, we evaluated knowledge retention at 4 weeks after the initial consultation. Methods: We invited patients undergoing RP at three metropolitan Urology clinics to participate in our randomised controlled study. Patients were randomised to receive either a PCR or standard pathology report. Patient satisfaction questionnaires (Perceived Efficacy in Patient-Physician Interactions [PEPPI], Consultation and Relational Empathy [CARE] and Communication Assessment Tool [CAT]) and a knowledge test were conducted within 72 h of the initial appointment and again at 4 weeks. Accurate recollection of Gleason grade group (GGG) and extracapsular extension (ECE) were classified as 'correct'. Baseline demographic data included age, education, marital and employment status, pre-op prostate specific antigen (PSA) and clinical stage. Baseline data were tested for differences between groups using the Student's t test, chi-squared test or Fisher's exact test depending on whether data were continuous, categorical or sparse. Comparison of correctly answered 'knowledge' questions was analysed using chi-squared test. A significance level of p ≤ 0.05 was used. Results: Data from 62 patients were analysed (30 standard vs. 32 PCR). No significant differences in baseline demographics were found between groups. Both groups reported high levels of satisfaction with their healthcare experiences in all domains of patient-physician rapport, empathy and communication. There were no significant differences between groups in PEPPI (p = 0.68), CAT (p = 0.39) and CARE (p = 0.66) scores, at baseline and 4 weeks. Ninety-three per cent of patients who received the PCR understood the report while 90% felt the report added to their understanding of their PCa. Regarding patient knowledge, the PCR group had significantly more correct answers on GGG and ECE as compared with the standard report group at baseline and 4 weeks (p < 0.001 and 0.001, respectively). Conclusions: Our findings demonstrate that PC pathology reports improve patient knowledge and understanding of their PCa that is retained for at least 4 weeks after initial receipt of results.

Synergistic Antimicrobial Glycyrrhizic Acid-Based Functional Biosensing Composite for Sensitive Glucose Monitoring and Collaborative Wound Healing.

High glucose blood and bacterial infection remain major issues for the slow healing of diabetic wounds, so developing functional biosensing composite with excellent antibacterial and remarkable glucose response sensitivity is necessary and prospective. Herein, by in situ synthesis AgNPs on the surface of self-prepared PTIGA elastomers, PTIGA-AgNPs conductive composites are obtained with efficient synergistic antibacterial effect, excellent mechanical and self-healing properties. The strain of the composites can reach 1800%, and its self-healing efficiency exceeds 90% at 60 °C within 8 h. Both elastomers and composites represent excellent biocompatibility and the antibacterial rate against E. coli and S. aureus exceeded 90%. Moreover, the biosensor assembled from the conductive composites exhibits excellent glucose response sensitivity and stability, with a sensitivity coefficient of 0.518 mA mm-1 in the range of 0.2-3.6 × 10-3 m glucose concentration, as well as a low detection limit of 0.08 × 10-3 m. Furthermore, based on the remarkable antibacterial performance and bioactivity derived from GA, the composites reduce the expression of pro-inflammatory factors and promote the production of anti-inflammatory factors, and effectively promote the regeneration of skin and granulation tissue of wounds in a diabetic full-thickness skin defect model, demonstrating the enormous therapeutic potential in diabetic wound healing.

Association of birth weight with type 2 diabetes mellitus and the mediating role of fatty acids traits: a two-step mendelian randomization study.

BACKGROUND: Observational studies have suggested an association between birth weight and type 2 diabetes mellitus, but the causality between them has not been established. We aimed to obtain the causal relationship between birth weight with T2DM and quantify the mediating effects of potential modifiable risk factors. METHODS: Two-step, two-sample Mendelian randomization (MR) techniques were applied using SNPs as genetic instruments for exposure and mediators. Summary data from genome-wide association studies (GWAS) for birth weight, T2DM, and a series of fatty acids traits and their ratios were leveraged. The inverse variance weighted (IVW) method was the main analysis approach. In addition, the heterogeneity test, horizontal pleiotropy test, Mendelian randomization pleiotropy residual sum and outlier (MR-PRESSO) test, and leave-one-out analysis were carried out to assess the robustness. RESULTS: The IVW method showed that lower birth weight raised the risk of T2DM (ß: -1.113, 95% CI: -1.573 ∼ -0.652). Two-step MR identified 4 of 17 candidate mediators partially mediating the effect of lower birth weight on T2DM, including ratio of polyunsaturated fatty acids to monounsaturated fatty acids (proportion mediated: 7.9%), ratio of polyunsaturated fatty acids to total fatty acids (7.2%), ratio of omega-6 fatty acids to total fatty acids (8.1%) and ratio of linoleic acid to total fatty acids ratio (6.0%). CONCLUSIONS: Our findings supported a potentially causal effect of birth weight against T2DM with considerable mediation by modifiable risk factors. Interventions that target these factors have the potential to reduce the burden of T2DM attributable to low birth weight.

Microplastics dampen the self-renewal of hematopoietic stem cells by disrupting the gut microbiota-hypoxanthine-Wnt axis.

Microplastics (MPs) are contaminants ubiquitously found in the global biosphere that enter the body through inhalation or ingestion, posing significant risks to human health. Recent studies emerge that MPs are present in the bone marrow and damage the hematopoietic system. However, it remains largely elusive about the specific mechanisms by which MPs affect hematopoietic stem cells (HSCs) and their clinical relevance in HSC transplantation (HSCT). Here, we established a long-term MPs intake mouse model and found that MPs caused severe damage to the hematopoietic system. Oral gavage administration of MPs or fecal transplantation of microbiota from MPs-treated mice markedly undermined the self-renewal and reconstitution capacities of HSCs. Mechanistically, MPs did not directly kill HSCs but disrupted gut structure and permeability, which eventually ameliorated the abundance of Rikenellaceae and hypoxanthine in the intestine and inactivated the HPRT-Wnt signaling in bone marrow HSCs. Furthermore, administration of Rikenellaceae or hypoxanthine in mice as well as treatment of WNT10A in the culture system substantially rescued the MPs-induced HSC defects. Finally, we validated in a cohort of human patients receiving allogenic HSCT from healthy donors, and revealed that the survival time of patients was negatively correlated with levels of MPs, while positively with the abundance of Rikenellaceae, and hypoxanthine in the HSC donors' feces and blood. Overall, our study unleashes the detrimental roles and mechanisms of MPs in HSCs, which provides potential strategies to prevent hematopoietic damage from MPs and serves as a fundamental critique for selecting suitable donors for HSCT in clinical practice.

A scoping review of functional near-infrared spectroscopy biomarkers in late-life depression: Depressive symptoms, cognitive functioning, and social functioning.

Late-life depression is one of the most damaging mental illnesses, disrupting the normal lives of older people by causing chronic illness and cognitive impairment. Patients with late-life depression, accompanied by changes in appetite, insomnia, fatigue and guilt, are more likely to experience irritability, anxiety and somatic symptoms. It increases the risk of suicide and dementia and is a major challenge for the public health systems. The current clinical assessment, identification and effectiveness assessment of late-life depression are primarily based on history taking, mental status examination and scale scoring, which lack subjectivity and precision. Functional near-infrared spectroscopy is a rapidly developing optical imaging technology that objectively reflects the oxygenation of hemoglobin in different cerebral regions during different tasks and assesses the functional status of the cerebral cortex. This article presents a comprehensive review of the assessment of functional near-infrared spectroscopy technology in assessing depressive symptoms, social functioning, and cognitive functioning in patients with late-life depression. The use of functional near-infrared spectroscopy provides greater insight into the neurobiological mechanisms underlying depression and helps to assess these three aspects of functionality in depressed patients. In addition, the study discusses the limitations of previous research and explores potential advances in the field.

Uncovering the Dynamic Alterations of Volatile Components in Sweet and Floral Aroma Black Tea during Processing.

Aroma is an indispensable factor that substantially impacts the quality assessment of black tea. This study aims to uncover the dynamic alterations in the sweet and floral aroma black tea (SFABT) throughout various manufacturing stages using a comprehensive analytical approach integrating gas chromatography electronic nose, gas chromatography-ion mobility spectrometry (GC-IMS), and gas chromatography-mass spectrometry (GC-MS). Notable alterations in volatile components were discerned during processing, predominantly during the rolling stage. A total of 59 typical volatile compounds were identified through GC-IMS, whereas 106 volatile components were recognized via GC-MS throughout the entire manufacturing process. Among them, 14 volatile compounds, such as linalool, ß-ionone, dimethyl sulfide, and 1-octen-3-ol, stood out as characteristic components responsible for SFABT with relative odor activity values exceeding one. This study serves as an invaluable theoretical platform for strategic controllable processing of superior-quality black tea.

[Hepatocellular Carcinoma-Derived Exosomes: Key Players in Intercellular Communication Within the Tumor Microenvironment]. / 肝癌外泌体在肿瘤微环境细胞间通讯中的作用.

Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related deaths in the world. Due to the insidious onset and rapid progression and a lack of effective treatments, the prognosis of patients with HCC is extremely poor, with the average 5-year survival rate being less than 10%. The tumor microenvironment (TME), the internal environment in which HCC develops, can regulate the oncogenesis, development, invasion, and metastasis of HCC. During the process of cancer progression, HCC cells can regulate the biological behaviors of tumor cells, cancer-associated fibroblasts, cancer-associated immune cells, and other cells in the TME by releasing exosomes containing specific signals, thereby promoting cancer progression. However, the exact molecular mechanisms and the roles of exosomes in the specific cellular regulation of these processes are not fully understood. Herein, we summarized the TME components of HCC, the sources and the biological traits of exosomes in the TME, and the impact of mechanical factors on exosomes. In addition, special attention was given to the discussion of the effects of HCC-exosomes on different types of cells in the microenvironment. There are still many difficulties to be overcome before exosomes can be applied as carriers in clinical cancer treatment. First of all, the homogeneity of exosomes is difficult to ensure. Secondly, exosomes are mainly administered through subcutaneous injection. Although this method is simple and easy to implement, the absorption efficiency is not ideal. Thirdly, exosome extraction methods are limited in number and inefficient, making it difficult to prepare exosomes in large quantities. It is important to ensure that exosomes are used in sufficient quantities to trigger an effective tumor immune response, especially for exosome-mediated tumor immunotherapy. With the improvement in identification, isolation, and purification technology, exosomes are expected to be successfully used in the clinical diagnosis of early-stage HCC and the clinical treatment of liver cancer.

Penigrines A-E: Five undescribed azepine-indole alkaloids from Penicillium griseofulvum.

Penigrines A-E (1-5), five undescribed azepine-indole alkaloids, were isolated from the fungus Penicillium griseofulvum. Their structures with absolute configurations were determined by NMR, HRESIMS, ECD calculation, and X-ray diffraction experiments. Penigrine C (3) possesses an undescribed 6-oxa-8-azabicyclo[3.2.2]nonane-7,9-dione moiety that fused to an indole core, and penigrines D and E (4 and 5) are a pair of epimers. The plausible biosynthetic pathways of 1-5 are proposed. Penigrine A (1) shows the potential for heart failure treatment.

Multilevel Pedicle Subtraction Osteotomy for Correction of Thoracolumbar Kyphosis in Ankylosing Spondylitis: Clinical Effect and Biomechanical Evaluation.

OBJECTIVE: To compare the clinical outcomes and biomechanical characteristics of 1-, 2-, and 3-level pedicle subtraction osteotomy (PSO), and establish selection criteria based on preoperative radiographic parameters. METHODS: Patients undergone PSO to treat ankylosing spondylitis from February 2009 to May 2019 in Sun Yat-sen Memorial Hospital of Sun Yat-sen University were enrolled. According to the quantity of osteotomy performed, the participants were divided into group A (1-level PSO, n = 24), group B (2-level PSO, n = 19), and group C (3-level PSO, n = 11). Clinical outcomes were assessed before surgery and at the final follow-up. Comparisons of the radiographic parameters and quality-of-life indicators were performed among and within these groups, and the selection criteria were established by regression. Finite element analysis was conducted to compare the biomechanical characteristics of the spine treated with different quantity of osteotomies under different working conditions. RESULTS: Three-level PSO improved the sagittal parameters more significantly, but resulted in longer operative time and greater blood loss (p < 0.05). Greater stress was found in the proximal screws and proximal junction area of the vertebra in the model simulating 1-level PSO. Larger stress of screws and vertebra was observed at the distal end in the model simulating 3-level PSO. CONCLUSION: Multilevel PSO works better for larger deformity correction than single-level PSO by allowing greater sagittal parameter correction and obtaining a better distribution of stress in the hardware construct, although with longer operation time and greater blood loss. Three-level osteotomy is recommended for the patients with preoperative of global kyphosis > 85.95°, T1 pelvic angle > 62.3°, sagittal vertical alignment > 299.55 mm, and pelvic tilt+ chin-brow vertical angle > 109.6°.

Ionic Liquid Bridge Assisting Bifacial Defect Passivation for Efficient All-Inorganic Perovskite Cells with High Open-Circuit Voltage.

Serious open-circuit voltage (Voc) loss originating from nonradiative recombination and mismatch energy level at TiO2/perovskite buried interface dramatically limits the photovoltaic performance of all-inorganic CsPbIxBr3-x (x = 1, 2) perovskite solar cells (PSCs) fabricated through low-temperature methods. Here, an ionic liquid (IL) bridge is constructed by introducing 1-butyl-3-methylimidazolium acetate (BMIMAc) IL to treat the TiO2/perovskite buried interface, bilaterally passivate defects and modulate energy alignment. Therefore, the Voc of all-inorganic CsPbIBr2 PSCs modified by BMIMAc (Target-1) significantly increases by 148 mV (from 1.213 to 1.361 V), resulting in the efficiency increasing to 10.30% from 7.87%. Unsealed Target-1 PSCs show outstanding long-term and thermal stability. During the accelerated degradation process (85 °C, RH: 50∼60%), the Target-1 PSCs achieve a champion PCE of 11.94% with a remarkable Voc of 1.403 V, while the control PSC yields a promising PCE of 10.18% with a Voc of 1.319 V. In particular, the Voc of 1.403 V is the highest Voc reported so far in carbon-electrode-based CsPbIBr2 PSCs. Moreover, this strategy enables the modified all-inorganic CsPbI2Br PSCs to achieve a Voc of 1.295 V and a champion efficiency of 15.20%, which is close to the reported highest PCE of 15.48% for all-inorganic CsPbI2Br PSCs prepared by a low-temperature process. This study provides a simple BMIMAc IL bridge to assist bifacial defect passivation and elevate the photovoltaic performance of all-inorganic CsPbIxBr3-x (x = 1, 2) PSCs.

[Effect of stump-preserving repair on rotator cuff healing and shoulder function for degenerative total rotator cuff tears].

Objective: To analyze the effect of stump-preserving repair on rotator cuff healing and shoulder function for degenerative total rotator cuff tears. Methods: A clinical data of 152 patients with degenerative total rotator cuff tears, who underwent arthroscopic repair between April 2019 and May 2022, was retrospectively analyzed. There were 76 males and 76 females with an average age of 55.4 years (range, 24-78 years). MRI was performed at 6 months postoperatively to evaluate the rotator cuff healing according to the Sugaya classification. Pre- and intra-operative related factors were included for univariate analysis, including age (≥60 years/<60 years), gender (male/female), passive activity disorder (yes/no), disease duration (≤3 months/>3 months), stump-preserving repair (yes/no), use of suture bridge technique (yes/no), shoulder joint abduction angle at knotting (<45°/≥45°), acromioplasty (yes/no), glucocorticoid injection (yes/no), time for patients to start postoperative passive exercise (≤2 weeks/>2 weeks), and time for patients to start postoperative active exercise (≤3 months/>3 months). The influencing factors of tendon healing were screened; further logistic regression was used to conduct multivariate analysis to screen for risk factors. Two sets of data were balanced by propensity score matching. The American Shoulder and Elbow Surgeons (ASES) score and Constant-Murley score of shoulder joint function at 6 and 12 months postoperatively, as well as rotator cuff healing rate at 6 months postoperatively, were compared between groups based on whether or not stump-preserving repair was used. Results: All patients were followed up 12-33 months (mean, 23.8 months). MRI at 25-31 weeks postoperatively showed the 121 cases of rotator cuff healing and 31 cases of non healing. Univariate analysis showed that the disease duration, stump-preserving repair, shoulder joint abduction angle at knotting, and the time for patients to start postoperative active exercise were the influencing factors of rotator cuff healing ( P<0.05). Multivariate analysis showed that non-stump-preserving repair, shoulder abduction angle more than 45° at knotting, and the time to start active exercise within 3 months postoperatively were risk factors affecting rotator cuff healing ( P<0.05). A total of 51 pairs of cases were matched based on the grouping criteria of whether the disease duration exceeded 3 months, whether the shoulder abduction angle at knotting exceeded 45°, and whether the time to start postoperative active exercise exceeded 3 months. The rotator cuff healing rate, ASES score, and Constant-Murley score of the preserving repair group at 6 months postoperatively were superior to those of the non-preserving repair group, and the differences were significant ( P<0.05). There was no significant difference in ASES score and Constant-Murley score between the two groups at 12 months postoperatively ( P>0.05). Conclusion: For degenerative total rotator cuff tears, the stump-preserving repair can shorten the healing time and promote the shoulder function recovery, but has no significant effect on shoulder function at 1 year postoperatively.

Establishment and validation of an interactive artificial intelligence platform to predict postoperative ambulatory status for patients with metastatic spinal disease: a multicenter analysis.

BACKGROUND: Identification of patients with high-risk of experiencing inability to walk after surgery is important for surgeons to make therapeutic strategies for patients with metastatic spinal disease. However, there is a lack of clinical tool to assess postoperative ambulatory status for those patients. The emergence of artificial intelligence (AI) brings a promising opportunity to develop accurate prediction models. METHODS: This study collected 455 patients with metastatic spinal disease who underwent posterior decompressive surgery at three tertiary medical institutions. Of these, 220 patients were collected from one medical institution to form the model derivation cohort, while 89 and 146 patients were collected from two other medical institutions to form the external validation cohorts 1 and 2, respectively. Patients in the model derivation cohort were used to develop and internally validate models. To establish the interactive AI platform, machine learning techniques were used to develop prediction models, including logistic regression (LR), decision tree (DT), random forest (RF), extreme gradient boosting machine (eXGBM), support vector machine (SVM), and neural network (NN). Furthermore, to enhance the resilience of the study's model, an ensemble machine learning approach was employed using a soft-voting method by combining the results of the above six algorithms. A scoring system incorporating 10 evaluation metrics was used to comprehensively assess the prediction performance of the developed models. The scoring system had a total score of 0 to 60, with higher scores denoting better prediction performance. An interactive AI platform was further deployed via Streamlit. The prediction performance was compared between medical experts and the AI platform in assessing the risk of experiencing postoperative inability to walk among patients with metastatic spinal disease. RESULTS: Among all developed models, the ensemble model outperformed the six other models with the highest score of 57, followed by the eXGBM model (54), SVM model (50), and NN model (50). The ensemble model had the best performance in accuracy and calibration slope, and the second-best performance in precise, recall, specificity, area under the curve (AUC), Brier score, and log loss. The scores of the LR model, RF model, and DT model were 39, 46, and 26, respectively. External validation demonstrated that the ensemble model had an AUC value of 0.873 (95% CI: 0.809-0.936) in the external validation cohort 1 and 0.924 (95% CI: 0.890-0.959) in the external validation cohort 2. In the new ensemble machine learning model excluding the feature of the number of comorbidities, the AUC value was still as high as 0.916 (95% CI: 0.863-0.969). In addition, the AUC values of the new model were 0.880 (95% CI: 0.819-0.940) in the external validation cohort 1 and 0.922 (95% CI: 0.887-0.958) in the external validation cohort 2, indicating favorable generalization of the model. The interactive AI platform was further deployed online based on the final machine learning model, and it was available at https://postoperativeambulatory-izpdr6gsxxwhitr8fubutd.streamlit.app/ . By using the AI platform, researchers were able to obtain the individual predicted risk of postoperative inability to walk, gain insights into the key factors influencing the outcome, and find the stratified therapeutic recommendations. The AUC value obtained from the AI platform was significantly higher than the average AUC value achieved by the medical experts ( P <0.001), denoting that the AI platform obviously outperformed the individual medical experts. CONCLUSIONS: The study successfully develops and validates an interactive AI platform for evaluating the risk of postoperative loss of ambulatory ability in patients with metastatic spinal disease. This AI platform has the potential to serve as a valuable model for guiding healthcare professionals in implementing surgical plans and ultimately enhancing patient outcomes.

Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.

PURPOSE: To explore the factors related to the diagnosis yield of syndromic congenital cataracts and describe the phenotype-genotype correlation in congenital cataract patients. DESIGN: Prospective cohort study. METHODS: Setting: the participants from underwent clinical examinations between 2021 and 2022. Facial and anterior eye segment photographs, pre- and postoperative ocular parameters, and medical and family histories were recorded. Bioinformatics analysis was performed using whole-exome sequencing data. Statistical and correlation analyses were performed using the basic characteristics, deep phenotype, and genotype data. PARTICIPANTS: 115 patients with unrelated congenital cataract. INTERVENTIONS: performing clinical examinations, whole-exome sequencing, and bioinformatics analysis for all participants. MAIN OUTCOMES AND MEASURES: factors related to the genetic diagnosis yield of syndromic congenital cataracts. RESULTS: Bilaterally asymmetrical cataracts were identified to be associated with syndromic congenital cataracts. The overall genetic diagnostic yield in the cohort was 72.2%. In total, 34.8% of the probands were early diagnosed with various syndromes with the help of genetic information. A phenotype-genotype correlation was detected for some genes and deep phenotypes. CONCLUSIONS: We highlight the importance of screening syndromic diseases in the patients with asymmetrical congenital cataracts. Application of whole-exome sequencing helps provide early diagnosis and treatment for the patients with syndromic congenital cataracts. This study also achieved a high genetic diagnostic yield, expanded the genotypic spectrum, and found phenotype-genotype correlations. A comprehensive analysis of cataract symmetricity, family history, and deep phenotypes makes the genotype prediction of some congenital cataract patients possible.

Surgical approach to and morphology of visually significant persistent pupillary membranes.

PURPOSE: To characterize the morphology of persistent pupillary membranes (PPMs) in pediatric patients and explore the corresponding surgical approaches. SETTING: Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. DESIGN: Prospective observational study. METHODS: Consecutive pediatric patients with PPMs who underwent surgery from April 2020 to July 2022 were included. PPM morphology was assessed and categorized according to its anatomic relationship with crystalline lens and distribution of iris strands. The surgical approaches for different morphologies of PPMs were described in detail. The visual outcome and operation-related complications were recorded. RESULTS: 31 eyes from 19 patients were included with the mean age of 7.2 years. 3 morphological variants of PPMs were observed: type I (51.6%, 16/31), a spider-like appearance and no adhesion to the anterior lens capsule (ALC); type II (38.7%, 12/31), a loose central adherence to the ALC and partially thick iris strands attached to the iris collarette; type III (9.7%, 3/31), a tight central adherence to the ALC and only silk-like iris strands. Surgeries were performed with a natural pupil size in type I, while dilated pupil in the other types. The adhesions between PPM and the ALC were separated by viscoelastic injection in type II and by discission needles in type III. The corrected distance visual acuity was significantly improved from 0.34 ± 0.18 logMAR preoperatively to 0.17 ± 0.09 logMAR postoperatively ( P < .001). No operation-related complications were observed during 9.5-month follow-up. CONCLUSIONS: PPMs were categorized into 3 types according to their different morphologies, which helped to determine the best surgical strategy.

Postoperative quality of life in patients with ankylosing spondylitis and thoracolumbar kyphosis: risk factors and personalized sagittal reconstruction strategy.

OBJECTIVE: The aim of this study was to investigate the factors affecting postoperative quality of life in patients with ankylosing spondylitis (AS) and thoracolumbar kyphosis (TLK), and establish a personalized sagittal reconstruction strategy. METHODS: Patients with AS and TLK who underwent pedicle subtraction osteotomy (PSO) from February 2009 to May 2019 were retrospectively included. Quality of life and spinal sagittal radiographic parameters were collected before surgery and at the last follow-up. Patients were divided into two groups based on the attainment of minimal clinically important difference (MCID) on the Bath Ankylosing Spondylitis Functional Index and Oswestry Disability Index. Comparisons of radiographic parameters and clinical outcomes were conducted between and within groups. Regression analysis was used to identify the risk factors within the missing MCID cohort. Sagittal reconstruction equations were established using the pelvic incidence (PI) and thoracic inlet angle (TIA) in the reached MCID cohort. RESULTS: The study comprised 82 participants. Significant improvements were observed in most radiographic parameters and all quality-of-life indicators during the final follow-up compared with the preoperative measures (p < 0.05). Factors including cervical lordosis (CL) ≥ 18° (OR 9.75, 95% CI 2.26-58.01, p = 0.005), chin-brow vertical angle (CBVA) ≥ 25° (OR 14.7, 95% CI 3.29-91.21, p = 0.001), and pelvic tilt (PT) ≥ 33° (OR 21.77, 95% CI 5.92-103.44, p < 0.001) independently correlated with a failure to attain MCID (p < 0.05). Sagittal realignment targets were constructed as follows: sacral slope (SS) = 0.84 PI - 17.4° (R2 = 0.81, p < 0.001), thoracic kyphosis (TK) = 0.51 PI + 10.8° (R2 = 0.46, p = 0.002), neck tilt (NT) = 0.52 TIA - 5.8° (R2 = 0.49, p < 0.001), and T1 slope (T1S) = 0.48 TIA + 5.8° (R2 = 0.45, p = 0.002). CONCLUSIONS: PSO proved efficacious in treating AS complicated by TLK, yielding favorable outcomes. CBVA ≥ 25°, CL ≥ 18°, and PT ≥ 33° were the primary factors affecting postoperative quality of life in patients with AS. The personalized sagittal reconstruction strategy in this study focused on the subjective sensations and daily needs of patients with AS, which were delineated by the equations SS = 0.84 PI - 17.4°, TK = 0.51 PI + 10.8°, NT = 0.52 TIA - 5.8°, and T1S = 0.48 TIA + 5.8°.

A Femoral Neck Osteotomy for the Patients with Ankylosing Spondylitis and Thoracolumbar Kyphosis Combined with Hip Flexion Contracture.

OBJECTIVE: The surgical treatment of patients with ankylosing spondylitis and severe thoracolumbar kyphosis combined with hip flexion contracture is very difficult for all the surgeons. The femoral neck osteotomy (FNO) is the first step to break the ice. The evaluation of a new modified FNO method is very important to improve the curative effect. METHODS: Five male patients with nine bone-fused hips who underwent the new femoral neck osteotomy were included from October 2021 to March 2022. The FNO was designed that the saw blade was manipulated from the lateral femoral neck base to the inferior part of the femoral head, keeping Pauwels' angle less than 30° on the coronal plane. On the transverse plane, the angle between the saw blade and the coronal plane was more than 15°. On the sagittal plane, the saw blade cut through the femoral neck. They accepted pedicle subtraction osteotomy (PSO) after FNO according to the patient' recovery. Then, 2 weeks later, the patients underwent total hip arthroplasty (THA). The visual analogue scale (VAS), Harris hip score (HHS) and passive hip flexion-extension range of motion (ROM) were used to evaluate hip function. The data were analyzed by paired t-test. RESULTS: The average operation time and blood loss of FNO, the average interval between FNO and THA were collected. The average angle of the trunk and lower limb (ATL) was 36.33° ± 16.36° pre-FNO, 82.89° ± 13.51° post-FNO and 175.22° ± 3.42° post-THA. The average VAS scores were 0 pre-FNO, 5 ± 1.58 post-FNO and 2.6 ± 0.55 post-THA. The average HHS was 43.56 ± 1.59 preoperatively and 83.89 ± 2.21 postoperatively. The average hip extension ROM was 23.89° ± 12.69° pre-FNO, -22.67° ± 14.18° post-FNO and - 3.33° ± 2.50 post-THA°. The average hip flexion ROM was 23.89° ± 12.69° pre-FNO, 35.56° ± 12.11° post-FNO and 104.44° ± 5.27° post-THA. The differences among them were significant (p < 0.05). Only one hip (11.11%) displaced completely after FNO. CONCLUSION: A new modified FNO was developed, which can provide osteotomy with a certain degree of stability and greater ease for performing PSO and THA.

Incidence of and risk factors for suspected and definitive glaucoma after bilateral congenital cataract surgery: a 5-year follow-up.

AIMS: To report the incidence and associated risk factors for developing suspected and definitive glaucoma after bilateral congenital cataract (CC) removal with a 5-year follow-up. METHODS: Secondary analysis of a prospective longitudinal cohort study. Bilateral CC patients who had undergone cataract surgery between January 2011 and December 2014 at Zhongshan Ophthalmic Centre were recruited. Suspected glaucoma was defined as persistent ocular hypertension requiring medical treatment. Definitive glaucoma was defined as accompanied by the progression of glaucomatous clinical features. According to postoperative lens status in 5 years follow-up: 130 eyes in the aphakia group; 219 in the primary intraocular lens (IOL) implantation group and 337 in the secondary IOL implantation group. The Kaplan-Meier survival and Cox regression analyses were used to explore the cumulative incidence and risk factors for suspected and definitive glaucoma. RESULTS: Three hundred fifty-one children (686 eyes) with bilateral CCs were enrolled in the study. The mean age at surgery was 1.82±2.08 years, and the mean follow-up duration was 6.26±0.97 years. Suspected and definitive glaucoma developed at a mean time of 2.84±1.75 years (range 0.02-7.33 years) postoperatively. The cumulative incidence of suspected and definitive glaucoma was 9.97% (35 of 351 patients), including 6.12% (42 eyes) for definitive glaucoma and 2.48% (17 eyes) for suspected glaucoma. Microcornea (HR 4.103, p<0.0001), CC family history (HR 3.285, p=0.001) and initial anterior vitrectomy (HR 2.365 p=0.036) were risk factors for suspected and definitive glaucoma. Gender, age at surgery, intraocular surgery frequency, length of follow-up and frequency of neodymium-doped yttrium aluminumaluminium garnet laser were non-statistically significant. Primary IOL implantation was a protective factor (HR 0.378, p=0.007). CONCLUSIONS: Identifying suspected and definitive glaucoma after bilateral CC surgery can lower the risk of secondary blindness in children. Patients with related risk factors need to pay more attention and thus reach early intervention and treatment during clinical practice. Primary IOL implantation may be a potential protective factor, need more clinical trials to be verified. TRIAL REGISTRATION NUMBER: NCT04342052.