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*

BACKGROUND:Self-assembling peptide hydrogels exhibit excellent biocompatibility,controllable physicochemical properties,and release capabilities,offering extensive application potential in tissue engineering,drug delivery,and biosensing fields.OBJECTIVE:To summarize the research progress of self-assembling peptide hydrogel in cancer therapy in recent years.METHODS:Using the search terms"self-assembling peptides,hydrogel,sustained release,antitumor,tumor therapy"in Chinese and English,CNKI,PubMed,and Elsevier ScienceDirect databases were searched for relevant literature published from 2000 to 2024.Finally,81 articles were included in the review.RESULTS AND CONCLUSION:Self-assembling peptide hydrogels,as a novel biomaterial,can be used as a sustained-release drug carrier to load a variety of anti-tumor drugs,and immunosuppressants,targeting tumor sites,inducing tumor cell death,reducing drug dosage,and increasing drug accumulation in tumor sites,thereby reducing the probability of toxic side effects and multidrug resistance.Moreover,anti-tumor hydrogels with natural activity can directly kill tumor cells without relying on drugs,and can minimize the toxic side effects of anti-tumor drugs when used alone.

BACKGROUND:Self-assembling peptide hydrogels exhibit excellent biocompatibility,controllable physicochemical properties,and release capabilities,offering extensive application potential in tissue engineering,drug delivery,and biosensing fields.OBJECTIVE:To summarize the research progress of self-assembling peptide hydrogel in cancer therapy in recent years.METHODS:Using the search terms"self-assembling peptides,hydrogel,sustained release,antitumor,tumor therapy"in Chinese and English,CNKI,PubMed,and Elsevier ScienceDirect databases were searched for relevant literature published from 2000 to 2024.Finally,81 articles were included in the review.RESULTS AND CONCLUSION:Self-assembling peptide hydrogels,as a novel biomaterial,can be used as a sustained-release drug carrier to load a variety of anti-tumor drugs,and immunosuppressants,targeting tumor sites,inducing tumor cell death,reducing drug dosage,and increasing drug accumulation in tumor sites,thereby reducing the probability of toxic side effects and multidrug resistance.Moreover,anti-tumor hydrogels with natural activity can directly kill tumor cells without relying on drugs,and can minimize the toxic side effects of anti-tumor drugs when used alone.

Bone regeneration remains a great clinical challenge. Low intensity near-infrared (NIR) light showed strong potential to promote tissue regeneration, offering a promising strategy for bone defect regeneration. However, the effect and underlying mechanism of NIR on bone regeneration remain unclear. We demonstrated that bone regeneration in the rat skull defect model was significantly accelerated with low-intensity NIR stimulation. In vitro studies showed that NIR stimulation could promote the osteoblast differentiation in bone mesenchymal stem cells (BMSCs) and MC3T3-E1 cells, which was associated with increased ubiquitination of the core circadian clock protein Cryptochrome 1 (CRY1) in the nucleus. We found that the reduction of CRY1 induced by NIR light activated the bone morphogenetic protein (BMP) signaling pathways, promoting SMAD1/5/9 phosphorylation and increasing the expression levels of Runx2 and Osterix. NIR light treatment may act through sodium voltage-gated channel Scn4a, which may be a potential responder of NIR light to accelerate bone regeneration. Together, these findings suggest that low-intensity NIR light may promote in situ bone regeneration in a CRY1-dependent manner, providing a novel, efficient and non-invasive strategy to promote bone regeneration for clinical bone defects.
Animals ; Rats ; Bone Morphogenetic Protein 2/metabolism* ; Bone Regeneration ; Cell Differentiation ; Circadian Clocks ; Cryptochromes/metabolism* ; Osteoblasts/metabolism* ; Osteogenesis ; Transcription Factors/metabolism*

The current document is based on a consensus reached by a panel of experts from the Chinese Society of Allergy and the Chinese Society of Otorhinolaryngology-Head and Neck Surgery, Rhinology Group. Chronic rhinosinusitis (CRS) affects approximately 8% of Chinese adults. The inflammatory and remodeling mechanisms of CRS in the Chinese population differ from those observed in the populations of European descent. Recently, precision medicine has been used to treat inflammation by targeting key biomarkers that are involved in the process. However, there are no CRS guidelines or a consensus available from China that can be shared with the international academia. The guidelines presented in this paper cover the epidemiology, economic burden, genetics and epigenetics, mechanisms, phenotypes and endotypes, diagnosis and differential diagnosis, management, and the current status of CRS in China. These guidelines—with a focus on China—will improve the abilities of clinical and medical staff during the treatment of CRS. Additionally, they will help international agencies in improving the verification of CRS endotypes, mapping of eosinophilic shifts, the identification of suitable biomarkers for endotyping, and predicting responses to therapies. In conclusion, these guidelines will help select therapies, such as pharmacotherapy, surgical approaches and innovative biotherapeutics, which are tailored to each of the individual CRS endotypes.
Adult ; Asian Continental Ancestry Group ; Biomarkers ; China ; Consensus ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Eosinophils ; Epidemiology ; Epigenomics ; Genetics ; Humans ; Hypersensitivity ; Inflammation ; International Agencies ; Medical Staff ; Neck ; Phenotype ; Precision Medicine