Tympanosclerosis is the hyaline degeneration and calcium deposition of the lamina propria of tympanic membrane and the submucosa of middle ear under long-term chronic inflammatory stimulation. At present, treatment primarily involves the surgical removal of sclerotic foci and reconstruction of auditory ossicular chain. However, excision of sclerotic lesions near critical structures like the facial nerve canal and vestibular window may result in complications like facial paralysis, vertigo, and sensorineural hearing loss. Developing safer and more effective treatments for tympanosclerosis has become an international research focus. Recent years have seen novel explorations in the treatment of tympanosclerosis. Therefore, this article reviews the latest advancements in research on the treatment of tympanosclerosis.
Humans ; Tympanoplasty ; Ear, Middle ; Ear Ossicles/surgery* ; Tympanic Membrane/surgery* ; Tympanosclerosis

Objective To conduct a detailed clinical phenotypic analysis and gene mutation detection on an au-tosomal dominant Van der Hoeve syndrome family,and to identify the pathogenic gene mutation sites of the family and the impact of the mutation on gene coding.Methods Clinical data including medical history,physical examina-tion and auxiliary examination were collected and peripheral blood samples were collected from the Van der Hoeve syndrome families.Exome sequencing and Sanger sequencing were performed on 22 family members.The data were analyzed using bioinformatics software.Results The family had a total of 5 generations,with each generation expe-riencing consecutive illnesses.Each generation of men and women could suffer from the disease,which conformed to the characteristics of autosomal dominant inheritance.The 12 patients in this family were all born with blue sclera and short stature.8 patients had a history of fractures and could heal normally.3 patients were considering hearing loss caused by Van der Hoeve syndrome.12 patients had a base deletion(c.1128delT)in exon 17 of the COL1A1 gene,causing a change in the amino acid coding after position 376 and ending the amino acid coding prematurely at position 539.10 asymptomatic individuals in this family didn't had this mutation.Conclusion The patient of this family was identified as Van der Hoeve syndrome caused by c.1128 delT mutation.

Objectives: . Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. Methods: . We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement. Results: . A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband. Conclusion . We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.

ABCC1 gene is expressed in various tissues and organs of the human body, and can transport substrates including drugs, heavy metals, toxic substances and organic anions. Previous research on ABCC1 gene has mostly focused on tumor multidrug resistance. Recently, ABCC1 has been proposed as a candidate gene for hereditary hearing impairment, which has attracted much attention. ABCC1-associated deafness may be related to its role in biological barriers. This article has summarized recent progress in the study of the role of ABCC1 in the blood-testis barrier, placental barrier, blood-brain barrier, blood-labyrinth barrier, which may provide insight into its biological functions.
Biological Transport ; Deafness/genetics* ; Female ; Humans ; Male ; Multidrug Resistance-Associated Proteins/genetics* ; Placenta ; Pregnancy

The clinical practice of otorhinolaryngology is highly specialized. This paper intends to discuss the teaching method of online clinical practice of otorhinolaryngology. For the first time, the teaching method of "flipped classroom" combined with "standardized patients" is adopted to carry out online clinical practice for the eight-year program of clinical medicine students, and the students are assessed and the questionnaire survey of online practice satisfaction is conducted. According to the results, online clinical practice is a kind of teaching method with maneuverability, flexibility and interaction, but it can’t completely replace clinical practice. In the future, we can further explore the teaching mode of "online and offline mixed" clinical practice.

Objective: To detect 20 common deafness gene mutations in non- syndromic deafness patients in China using PCR- RDB, and analyze and summarize the mutation data to explore the clinical value of this method. Method: The PCR- RDB and Sanger sequencing were used to detect 20 common mutations of four deafness genes（GJB2, GJB3, SLC26A4 and mtDNA） in 500 patients with non- syndromic hearing loss . The Sanger sequencing was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by PCR- RDB. Result: A total of 500 samples were detected. 147 wild- type samples, 81 homozygous mutant samples, 240 heterozygous mutant samples, 32 composite heterozygous mutant samples were detected using the PCR- RDB within the range of 20 gene mutations, which were identical to the Sanger sequencing results. GJB2 c.235delC and SLC26A4 c.919- 2 A>G are the most common hotspot mutations in this study, followed by mtDNA m. 1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real- time fluorescence PCR melting curve method were 100%, and the Kappa value was one. Conclusion PCR reverse dot-blot hybridization is a simple, rapid, sensitive and specific method for detecting 20 mutations of 4 common deafness genes in Chinese population, it is expected to be used in clinical detection of deafness genes in the future.

To detect 20 common deafness gene mutations in non- syndromic deafness patients in China using PCR- RDB, and analyze and summarize the mutation data to explore the clinical value of this method. The PCR- RDB and Sanger sequencing were used to detect 20 common mutations of four deafness genes（, and ） in 500 patients with non- syndromic hearing loss . The Sanger sequencing was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by PCR- RDB. A total of 500 samples were detected. 147 wild- type samples, 81 homozygous mutant samples, 240 heterozygous mutant samples, 32 composite heterozygous mutant samples were detected using the PCR- RDB within the range of 20 gene mutations, which were identical to the Sanger sequencing results. GJB2 c.235delC and SLC26A4 c.919- 2 A>G are the most common hotspot mutations in this study, followed by mtDNA m. 1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real- time fluorescence PCR melting curve method were 100%, and the Kappa value was one. PCR reverse dot-blot hybridization is a simple, rapid, sensitive and specific method for detecting 20 mutations of 4 common deafness genes in Chinese population, it is expected to be used in clinical detection of deafness genes in the future.

Objective: To detect 20 common deafness gene mutations in non-syndromic hearing loss patients in China using the melting curve method, and analyze and summarize the mutation data to explore the clinical value of this method. Methods: The real-time fluorescence PCR melting curve method was used to detect 20 common mutations of four deafness genes(GJB2,GJB3,SLC26A4 and mtDNA) in 492 patients with non-syndromic hearing loss recruited between March 2014 and September 2016 from the Otolaryngology Department of Xiangya Hospital, Central South University(283 males and 209 females, the age ranged from 1 to 48 years old). The Sanger sequencing method was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by the real-time fluorescence PCR melting curve method. Results: A total of 492 samples were detected. 193 wild-type samples, 93 homozygous mutant samples, 145 heterozygous mutant samples, 59 composite heterozygous mutant samples and 2 samples with unknown mutations were detected using the real-time fluorescence PCR melting curve method within the range of 20 gene mutations, whichwere identical to the Sanger sequencing results.The two samples were detected as unknown mutations by the real-time fluorescent PCR melting curve method were confirmed by Sanger sequencing, including a composite heterozygous mutant sample and a homogenous mutation sample. GJB2 c.235delC and SLC26A4 c.919-2 A>G were the most common hotspot mutations in this study, followed by mtDNA m.1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real-time fluorescence PCR melting curve method were 100%, the Youden′s index was 1.0, and the Kappa value was 1. Conclusions The real-time fluorescence PCR melting curve method is suitable for the detection of deafness gene mutations. It has the advantages in terms of simple, rapid, high sensitivity and strong specificity and can accurately detect the 20 gene mutations of 4 common deafness genes in Chinese population, which is expected to be used for the clinical detection of deafness genes in the future.

Giant cell reparative granuloma (GCRG) is a type of non-neoplastic lesion that can be rarely found in clinical practices. Due to the lack of specificity in symptoms, signs and auxiliary examinations, it is likely to be misdiagnosed, and thereby affecting the treatment and prognosis. In July 2018, a GCRG patient who was described with "4 years of hearing loss in the left ear, accompanied by 2 months of preauricular swelling" as the first symptom was admitted in our hospital. Both the HRCT and MRI scans for the temporal bone suggested the presence of tumor at the left lateral skull base, but the nature still needed further examination. Intraoperatively, the tumor was completely removed and repaired locally. Pathological examination confirmed the symptoms as GCRG. Immunohistochemistry showed the expression of CD68 and CD163 in the tumor cells. Postoperatively, the patient recovered well without complications, and had the stitches removed before being discharged on schedule.
Bone Neoplasms ; Giant Cell Tumors ; Giant Cells ; Granuloma, Giant Cell ; Humans ; Temporal Bone

Objective? To explore the effects of short-term structural psychological education on depression and immunity in patients with Barcelona clinic liver cancer B or C stage (BCLC-B/C) hepatocellular carcinoma. Methods? Totally 210 patients with BCLC-B/C hepatocellular carcinoma who were admitted in the Department of Hepatological Surgery, Guangxi Medical University Affiliated Tumor Hospital from June 2016 to March 2018 were selected by convenient sampling and divided into the non-depression group (n=79) and the depression group (n=131) according to Hospital Anxiety and Depression Scale-Depression (HADS-D) and Patient Health Questionnaire (PHQ-9). Patients in the depression group were randomly divided into the intervention group (n=66) and the control group (n=65). Patients in the non-depression group and the depression-control group received conventional nursing care, while patients in the depression-intervention group received short-term structural psychological education on the basis of conventional nursing care. HADS-D, PHQ-9 and cytoimmunity indexes were used to evaluate the effects of intervention. Results? The HADS-D and PHQ-9 scores of the depression-intervention group were lower than those of the control group on day 30 postoperatively(P＜0.01). The CD3+, CD3+CD4+, CD3+CD4+/CD3+CD8+ levels of the depression-intervention group were higher than those of the depression-control group on day 30 postoperatively (P＜0.05). Conclusions? Short-term structural psychological education can effectively improve the depression and immunity in patients with BCLC-B/C,which is worth promoting in clinical practice.