Sensorineural hearing loss is one of the most common sensory disorders. In recent years, auditory neuropathy spectrum disorders caused by mutations in the OTOF gene have garnered significant attention worldwide, marking it as the first deafness gene with breakthroughs in gene therapy. Most patients with OTOF gene mutations present with stable, congenital, or prelingual onset of hearing loss, which can range from severe to profound and even complete hearing loss. However, a minority of patients may exhibit mild to moderate progressive hearing loss or temperature-sensitive hearing loss. This review further explores the genotype-phenotype relationship of the OTOF gene based on reported cases in China and abroad. Additionally, we analyze the characteristics of the natural history of OTOF gene mutations within the Chinese population. This study aims to provide a reference for the clinical diagnosis, evaluation, and treatment of hearing loss associated with OTOF gene mutations.
Humans ; Mutation ; Phenotype ; Genotype ; Hearing Loss, Sensorineural/genetics* ; Membrane Proteins/genetics*

Temporomandibular joint (TMJ) diseases are common clinical conditions. The number of patients with TMJ diseases is large, and the etiology, epidemiology, disease spectrum, and treatment of the disease remain controversial and unknown. To understand and master the current situation of the occurrence, development and prevention of TMJ diseases, as well as to identify the patterns in etiology, incidence, drug sensitivity, and prognosis is crucial for alleviating patients′suffering.This will facilitate in-depth medical research, effective disease prevention measures, and the formulation of corresponding health policies. Cohort construction and research has an irreplaceable role in precise disease prevention and significant improvement in diagnosis and treatment levels. Large-scale cohort studies are needed to explore the relationship between potential risk factors and outcomes of TMJ diseases, and to observe disease prognoses through long-term follw-ups. The consensus aims to establish a standard conceptual frame work for a cohort study on patients with TMJ disease while providing ideas for cohort data standards to this condition. TMJ disease cohort data consists of both common data standards applicable to all specific disease cohorts as well as disease-specific data standards. Common data were available for each specific disease cohort. By integrating different cohort research resources, standard problems or study variables can be unified. Long-term follow-up can be performed using consistent definitions and criteria across different projects for better core data collection. It is hoped that this consensus will be facilitate the development cohort studies of TMJ diseases.

As artificial intelligence technology rapidly advances, its deployment within the medical sector presents substantial ethical challenges. Consequently, it becomes crucial to create a standardized, transparent, and secure framework for processing medical data. This includes setting the ethical boundaries for medical artificial intelligence and safeguarding both patient rights and data integrity. This consensus governs every facet of medical data handling through artificial intelligence, encompassing data gathering, processing, storage, transmission, utilization, and sharing. Its purpose is to ensure the management of medical data adheres to ethical standards and legal requirements, while safeguarding patient privacy and data security. Concurrently, the principles of compliance with the law, patient privacy respect, patient interest protection, and safety and reliability are underscored. Key issues such as informed consent, data usage, intellectual property protection, conflict of interest, and benefit sharing are examined in depth. The enactment of this expert consensus is intended to foster the profound integration and sustainable advancement of artificial intelligence within the medical domain, while simultaneously ensuring that artificial intelligence adheres strictly to the relevant ethical norms and legal frameworks during the processing of medical data.
Artificial Intelligence/legislation & jurisprudence* ; Humans ; Consensus ; Computer Security/standards* ; Confidentiality/ethics* ; Informed Consent/ethics*

Primary central nervous system lymphoma (PCNSL) is an uncommon non-Hodgkin's lymphoma with poor prognosis. This study aimed to depict the genetic landscape of Chinese PCNSLs. Whole-genome sequencing was performed on 68 newly diagnosed Chinese PCNSL samples, whose genomic characteristics and clinicopathologic features were also analyzed. Structural variations were identified in all patients with a mean of 349, which did not significantly influence prognosis. Copy loss occurred in all samples, while gains were detected in 77.9% of the samples. The high level of copy number variations was significantly associated with poor progression-free survival (PFS) and overall survival (OS). A total of 263 genes mutated in coding regions were identified, including 6 newly discovered genes (ROBO2, KMT2C, CXCR4, MYOM2, BCLAF1, and NRXN3) detected in ⩾ 10% of the cases. CD79B mutation was significantly associated with lower PFS, TMSB4X mutation and high expression of TMSB4X protein was associated with lower OS. A prognostic risk scoring system was also established for PCNSL, which included Karnofsky performance status and six mutated genes (BRD4, EBF1, BTG1, CCND3, STAG2, and TMSB4X). Collectively, this study comprehensively reveals the genomic landscape of newly diagnosed Chinese PCNSLs, thereby enriching the present understanding of the genetic mechanisms of PCNSL.
Humans ; DNA Copy Number Variations ; Nuclear Proteins/genetics* ; Central Nervous System Neoplasms/pathology* ; Transcription Factors/genetics* ; Prognosis ; Lymphoma/genetics* ; Genomics ; China ; Central Nervous System/pathology* ; Bromodomain Containing Proteins ; Cell Cycle Proteins/genetics*

【Objective】 To investigate the effect of allogeneic platelet-rich on the healing and regeneration of diabetic foot wounds. 【Methods】 A total of 86 patients with diabetic foot ulcer treated in our hospital from January 2019 to June 2020 were selected for this study. They were divided into 2 groups by the random number table method, with 43 patients in each group. The control group was given conventional treatment according to the Guidelines for the Diagnosis and Treatment of Diabetic Foot in China, and the observation group was further treated with platelet-rich gel (APG) from the allogeneic blood bank.The clinical efficacy, general conditions, wound conditions, inflammatory factors, serum levels of transforming growth factor-β1 (TGF-β1), vascular endothelial growth factor (VEGF) and hyaluronic acid (HA) were compared between the two groups. 【Results】 The total effective rate of patients in the observation group was 93.02%, higher than 76.73% in the control group (P<0.05). The wound healing time (15.08±3.19 vs 17.38±4.02) d and hospitalization time (16.12±4.03 vs 18.27±5.11) d in the observation group were shorter than those in the control group (P<0.05). Before treatment, there were no significant differences in hsCRP (4.25±0.39 vs 4.10±0.41) mg/L, TNF-α (5.70±1.29 vs 5.81±1.33) μ g/L and IL-6 (96.38±24.02 vs 99.64±25.17) mg/L between the two groups (P>0.05). After treatment, hsCRP (2.35±0.50 vs 2.83±0.44) mg/L, TNF-α(3.15±0.82 vs 4.02±1.07) μ g/L and IL-6 (50.82±18.54 vs 72.93±20.25) mg/L in the observation group were lower than those in the control group (P < 0.05). Before treatment, there were no significant differences in TGF-β 1 (5.66±1.25 vs 5.81±1.31) ng/L, VEGF (11.03±3.62 vs 10.83±3.72) μ g/L and ha (71.19±20.84 vs 70.82±21.03) mg/L between the two groups (P>0.05). After treatment, the levels of TGF-β 1 (17.29±4.09 vs 14.03±3.72) ng/L, VEGF (43.03±14.17 vs 37.04±11.05) and ha (177.96±39.08 vs 151.94±36.17) in the observation group were higher than those in the control group (P<0.05). 【Conclusion】 On the basis of conventional treatment, allogeneic blood bank concentrated platelet APG can effectively improve the curative effect of diabetic foot wound and shorten the wound healing time and hospitalization time. The mechanism may be related to reducing the level of inflammatory factors and increasing TGF-β 1, VEGF and HA.

Temporomandibular joint (TMJ) is a unique synovial joint in mammals. There have been many reports on the structure and function of TMJ during embryonic development.Although studies on TMJ related signal molecules and transcription factors during embryonic development have been carried out since the last century, there are few reports on the molecular genetic regulation of TMJ compared with the abundant molecular regulation information of synovial joint. The studies on signal molecules and transcription factors of TMJ embryonic development were mainly conducted in rodents.There were few studies on the regulatory molecules and their regulatory mechanisms related to the development of TMJ conducted in large mammals and human embryos. This article reviews the research progress of key signal molecules and transcription factors of TMJ in embryonic development on the basis of modern molecular biology technology in order to find more core regulatory molecules and understand their regulation mechanism on TMJ development.

Objective:To explore the application of three-dimensional (3D) printing technology in oral and maxillofacial surgery, so as to optimize and standardize its design and application.Methods:From January 2010 to December 2020, 40 cases of mandibular tumor surgery (20 cases of conventional group and 20 cases of guide plate group), 20 cases of temporomandibular joint replacement surgery (10 cases of conventional group and 10 cases of guide plate group), 20 cases of malocclusion surgery (10 cases of conventional group and 10 cases of guide plate group), 20 cases of radioactive particle implantation surgery (10 cases of CT guided group and 10 cases of guide plate group) were analyzed. All patients in the guide plate group were scanned with spiral CT, and the 3D models of the jaw and the donor bone area were reconstruction. According to the purpose of surgical guide, the design and clinical application of osteotomy guide, in place forming guide and puncture positioning guide were analyzed respectively. The design time of guide plate, the performance and printing time of guide material, the sterilization method of guide and its influence on accuracy, and the influence of guide application on operation time and accuracy were analyzed.Results:The design time of orthognathic guide plate was (2.9±1.8) d, and the design time of mandibular transplantation guide plate was (2.8±1.8) d, that of the temporomandibular joint replacement guide plate and the puncture guide plate was (2.2±0.3) and (0.9±0.3) d. The average printing time of the 40 maxilla model was (11.1±1.6) h, and that of the 40 mandible models was (2.6±0.4) h. The average printing time of the 40 sets of osteotomy and positioning guide plate was (2.5±0.8) h, and that of the 10 puncture positioning guide plate (1.1±0.4) h. The operation time of the conventional group was (6.99±1.10) and (6.02±0.55) h. In the CT guided group, the operation time was (1.91±0.55) h and (0.89±0.15). The operation time of mandible tumor operation and radioactive particle implantation in the guide plate group was less than that in the control group ( P<0.05), and there was no significant difference in the operation time of orthognathic surgery and joint replacement between the two groups ( P>0.05). The displacement distance of the mark points in the TMJ replacement and mandibular tumor operation guide group was less than that in the control group ( P<0.05), and the error of the guide plate in orthognathic operation and particle implantation operation was basically less than 1 mm. Conclusions:The application of the surgical guide plate made by 3D printing technology helps to complete the operation more safely, accurately and quickly, But its design, manufacture and disinfection still need to be further standardized and improved.

Objective:To explore the therapeutic mechanism of fractional laser combined with pulsed dye laser and multi-point microinjection of triamcinolone in the treatment of hypertrophic scars in rabbit ears.Methods:In this study, 80 hypertrophic scar models of rabbit ears were made and randomly divided into 4 groups: control group, laser combined group, laser combined multi-point microinjection group, simple traditional injection group, 20 scar models in each group.The control group was not given treatment; the laser combined group was treated with pulsed dye laser first, followed by fractional laser at the same time; the laser combined with multi-point microinjection group was treated with pulsed dye laser and fractional laser first, followed by multi-point microinjection of triamcinolone in the scar immediately after laser treatment; the traditional injection group was injected with triamcinolone in the scar.The gross appearance of hypertrophic scars was observed and recorded in 4 groups. At 7 days and 2 months after treatment, the hypertrophic scars were cut and the histological study were performed by HE staining; the expression of collagen was observed by Masson staining and the volume fraction of collagen was measured; the number of micro-vessels was observed by CD31 staining and the micro-vessel density was measured.One way ANOVA was used to show the difference between groups, LSD posthoc test was used to compare between groups, and Pearson correlation coefficient was used to analyze collagen volume fraction and micro-vessel density.Results:Two months after the treatment, the histological results showed that the scar thickness of the laser combined group and the laser combined with multi-point microinjection group was significantly thinner than that of the control group, the texture of the scar was softened, the red color gradually became lighter, and approached to the color of the surrounding skin. Compared with the control group, the scar in the traditional injection group was thinner, softer and lighter. The scar thickness of laser combined with multi-point microinjection group was thinner than that of laser combined group and simple traditional injection group.Masson staining was used to calculate the collagen volume fraction (CVF): the expression of CVF in hypertrophic scar tissue of each group was reduced. The CVF values of each group at the 7th day and the 2nd month were compared. There was statistically significant difference between the laser combined group, the laser combined multi-point microinjection group and the simple traditional injection group ( P<0.05), but there was no statistical difference between the control group ( P>0.05). The CVF value of each group was further compared at 2 months after treatment, the laser combined multi-point microinjection group 0.05). 2 months after treatment, the MVD values of each group were compared with the result as the laser combined with multi-point microinjection group < laser combined group < simple traditional injection group, but there was no statistical difference between the laser combined with multi-point microinjection group and the laser combined group ( P>0.05). There was statistical difference between the laser combined with multi-point microinjection group and the laser combined group and the simple traditional injection group ( P< 0.05). The Pearson correlation coefficient was r=0.972, which indicated that there was a positive correlation between the collagen content and the number of micro-vessels. Conclusions:The use of fractional laser combined with pulsed dye laser and multi-point microinjection of triamcinolone in the treatment of hypertrophic scars in rabbit ears can evenly reduce the number of fibroblasts, promote the normalization of collagen density and arrangement, and reduce collagen volume fraction and micro-vessel density. The curative effect is better than fractional laser combined with pulse dye laser therapy and simple traditional triamcinolone injection therapy. There is a positive correlation between collagen content and micro-vessel density in hypertrophic scars. Simultaneously inhibiting the proliferating blood vessels can improve the therapeutic effectiveness.

Objective:To explore the therapeutic mechanism of fractional laser combined with pulsed dye laser and multi-point microinjection of triamcinolone in the treatment of hypertrophic scars in rabbit ears.Methods:In this study, 80 hypertrophic scar models of rabbit ears were made and randomly divided into 4 groups: control group, laser combined group, laser combined multi-point microinjection group, simple traditional injection group, 20 scar models in each group.The control group was not given treatment; the laser combined group was treated with pulsed dye laser first, followed by fractional laser at the same time; the laser combined with multi-point microinjection group was treated with pulsed dye laser and fractional laser first, followed by multi-point microinjection of triamcinolone in the scar immediately after laser treatment; the traditional injection group was injected with triamcinolone in the scar.The gross appearance of hypertrophic scars was observed and recorded in 4 groups. At 7 days and 2 months after treatment, the hypertrophic scars were cut and the histological study were performed by HE staining; the expression of collagen was observed by Masson staining and the volume fraction of collagen was measured; the number of micro-vessels was observed by CD31 staining and the micro-vessel density was measured.One way ANOVA was used to show the difference between groups, LSD posthoc test was used to compare between groups, and Pearson correlation coefficient was used to analyze collagen volume fraction and micro-vessel density.Results:Two months after the treatment, the histological results showed that the scar thickness of the laser combined group and the laser combined with multi-point microinjection group was significantly thinner than that of the control group, the texture of the scar was softened, the red color gradually became lighter, and approached to the color of the surrounding skin. Compared with the control group, the scar in the traditional injection group was thinner, softer and lighter. The scar thickness of laser combined with multi-point microinjection group was thinner than that of laser combined group and simple traditional injection group.Masson staining was used to calculate the collagen volume fraction (CVF): the expression of CVF in hypertrophic scar tissue of each group was reduced. The CVF values of each group at the 7th day and the 2nd month were compared. There was statistically significant difference between the laser combined group, the laser combined multi-point microinjection group and the simple traditional injection group ( P<0.05), but there was no statistical difference between the control group ( P>0.05). The CVF value of each group was further compared at 2 months after treatment, the laser combined multi-point microinjection group 0.05). 2 months after treatment, the MVD values of each group were compared with the result as the laser combined with multi-point microinjection group < laser combined group < simple traditional injection group, but there was no statistical difference between the laser combined with multi-point microinjection group and the laser combined group ( P>0.05). There was statistical difference between the laser combined with multi-point microinjection group and the laser combined group and the simple traditional injection group ( P< 0.05). The Pearson correlation coefficient was r=0.972, which indicated that there was a positive correlation between the collagen content and the number of micro-vessels. Conclusions:The use of fractional laser combined with pulsed dye laser and multi-point microinjection of triamcinolone in the treatment of hypertrophic scars in rabbit ears can evenly reduce the number of fibroblasts, promote the normalization of collagen density and arrangement, and reduce collagen volume fraction and micro-vessel density. The curative effect is better than fractional laser combined with pulse dye laser therapy and simple traditional triamcinolone injection therapy. There is a positive correlation between collagen content and micro-vessel density in hypertrophic scars. Simultaneously inhibiting the proliferating blood vessels can improve the therapeutic effectiveness.

Objective:To explore the effect of combined application of pulsed dye laser (PDL) and ultra-pulsed fractional carbon dioxide laser (UFCL) in the treatment of pediatric large burn scars at early stage.Methods:One hundred and twenty pediatric patients with large burn scars at early stage conforming to the study criteria were admitted to the People′s Hospital of Hunan Province from January 2016 to December 2019. Their data were retrospectively analyzed by the method of single case-control study. There were 78 males and 42 females with age of (4.2±0.8) years and scar area of (100.3±0.7) cm 2. PDL combined with UFCL was used for the first time. The treatment interval of PDL was a month and the treatment interval of UFCL was 3 months. The total treatment cycle was 6 months, with 2 PDL treatments alone and two combined treatments. Before the first combined treatment and 6 months after two combined treatments, the curative effect was assessed using Patient and Observer Scar Assessment Scale (POSAS) by doctors and family members of pediatric patients. Satisfaction degrees of the family members of pediatric patients were recorded, and the overall satisfaction rate was calculated 6 months after two combined treatments. The adverse effects during the whole treatment course were recorded. Data were statistically analyzed with paired t test. Results:(1) Six months after two combined treatments, the scores of pediatric patients′ scar vascularity, pigment, thickness, relief, pliability, surface area, and overall valuation in POSAS by doctors and the scores of pain, itch, color, stiffness, thickness, irregularity, and overall valuation in POSAS by family members of pediatric patients were all significantly lower than those before the first combined treatment ( t=16.6, 16.0, 16.9, 14.9, 20.8, 29.3, 30.7, 20.4, 29.3, 18.1, 27.9, 25.8, 20.8, 45.3, P<0.01). The overall evaluation scores by doctors were (8.1±0.8) and (2.7±0.6) points, and the overall evaluation scores by family members of pediatric patients were (8.2±0.8) and (2.4±0.5) points respectively before the first combined treatment and six months after two combined treatments. (2) Six months after two combined treatments, 110 (92%) family members of pediatric patients were very satisfied with the curative effect, 6 (5%) family members of pediatric patients were satisfied, and 4 (3%) family members of pediatric patients were relatively satisfied with no unsatisfied reported. The overall satisfaction rate was 97% (116/120). (3) During the treatment, pruritus and rash appeared in 5 pediatric patients 3 to 4 days after the first treatment; pigmentation appeared in 3 pediatric patients 3 weeks after the first treatment; pruritus and vesicle appeared in 1 patient 1 week after the third treatment. No adverse effects such as aggravated scar or infection were observed on the wounds. Conclusions:In treating pediatric large burn scars at early stage, PDL combined with UFCL has demonstrated significant effect with short treatment cycle, few adverse effects. The combined treatment can alleviate symptoms and improve the quality of pediatric patients′ life, and is worthy to be popularized and applied in clinic.