Objective:The aim of this study is to analyze the clinical characteristics and genetic variants of a late-onset auditory neuropathy pedigree caused by maternally inherited- mitochondrial mutation.Methods:A male proband who presented with bilateral sensorineural hearing loss at Henan Children′s Hospital in September 2023 was chosen, along with his family members (4 generations, 20 individuals) as the study subjects. Data from this pedigree were collected, organized, and analyzed for clinical genetic characteristics. Medical histories were obtained from family members, pedigree charts were drawn, audiological, imaging, and physical examinations were conducted. Pathogenic genes and mutations were screened using high-throughput sequencing. Sanger sequencing was employed for variant confirmation and segregation validation in the family.Results:In this family, a total of 12 members (10 members collected) had sensorineural hearing loss, characterized by late-onset hearing impairment with an onset age ranging from 9 to 30 years. The patients exhibited poor speech recognition rates, and audiometric examinations are consistent with auditory neuropathy. There was no history of ototoxic drug use. High-throughput sequencing identified the variant NC_012920.1:m.7471dup in the mitochondrial MT-TS1 gene as the pathogenic variant. Sanger sequencing results confirmed that the pathogenic gene mutation site perfectly co-segregated with the auditory neuropathy phenotype in this family. According to the classification criteria and guidelines for genetic variations by the American College of Medical Genetics and Genomics, the variant was classified as a pathogenic mutation. Conclusion:The mitochondrial MT-TS1 gene mutation m.7471dup is considered to be the pathogenic cause in this late-onset auditory neuropathy pedigree.

Objective:The aim of this study is to analyze the clinical characteristics and genetic variants of a late-onset auditory neuropathy pedigree caused by maternally inherited- mitochondrial mutation.Methods:A male proband who presented with bilateral sensorineural hearing loss at Henan Children′s Hospital in September 2023 was chosen, along with his family members (4 generations, 20 individuals) as the study subjects. Data from this pedigree were collected, organized, and analyzed for clinical genetic characteristics. Medical histories were obtained from family members, pedigree charts were drawn, audiological, imaging, and physical examinations were conducted. Pathogenic genes and mutations were screened using high-throughput sequencing. Sanger sequencing was employed for variant confirmation and segregation validation in the family.Results:In this family, a total of 12 members (10 members collected) had sensorineural hearing loss, characterized by late-onset hearing impairment with an onset age ranging from 9 to 30 years. The patients exhibited poor speech recognition rates, and audiometric examinations are consistent with auditory neuropathy. There was no history of ototoxic drug use. High-throughput sequencing identified the variant NC_012920.1:m.7471dup in the mitochondrial MT-TS1 gene as the pathogenic variant. Sanger sequencing results confirmed that the pathogenic gene mutation site perfectly co-segregated with the auditory neuropathy phenotype in this family. According to the classification criteria and guidelines for genetic variations by the American College of Medical Genetics and Genomics, the variant was classified as a pathogenic mutation. Conclusion:The mitochondrial MT-TS1 gene mutation m.7471dup is considered to be the pathogenic cause in this late-onset auditory neuropathy pedigree.

The objective was to investigate the effect of kinsenoside (Kin) treatments on macrophage polarity and evaluate the resulting protection of chondrocytes to attenuate osteoarthritis (OA) progression. RAW264.7 macrophages were polarized to M1/M2 subtypes then administered with different concentrations of Kin. The polarization transitions were evaluated with quantitative real-time polymerase chain reaction (qRT-PCR), confocal observation and flow cytometry analysis. The mechanism of Kin repolarizing M1 macrophages was evaluated by Western blot. Further, macrophage conditioned medium (CM) and IL-1 were administered to chondrocytes. Micro-CT scanning and histological observations were conducted on anterior cruciate ligament transection (ACLT) mice with or without Kin treatment. We found that Kin repolarized M1 macrophages to the M2 phenotype. Mechanistically, Kin inhibited the phosphorylation of IB, which further reduced the downstream phosphorylation of P65 in nuclear factor-B (NF-B) signaling. Moreover, Kin inhibited mitogen-activated protein kinases (MAPK) signaling molecules p-JNK, p-ERK and p-P38. Additionally, Kin attenuated macrophage CM and IL-1-induced chondrocyte damage. , Kin reduced the infiltration of M1 macrophages, promoted M2 macrophages in the synovium, inhibited subchondral bone destruction and reduced articular cartilage damage induced by ACLT. All the results indicated that Kin is an effective therapeutic candidate for OA treatment.

Objective To investigate the application value of functional MRI in the differential diagnosis between breast mucinous carcinoma and phyllodes tumor(≥ 3 cm). Methods 55 cases of breast mucinous adeno-carcinoma and phyllodes tumors(≥ 3 cm)from January 2012 to December 2017 were retrospectively analyzed. MRI features of 20 mucinous carcinomas and 35 phyllodes tumors were analyzed,compared with pathology. Re-sults There were 20 cases of breast mucinous carcinoma in current study,including 14 cases of pure mucinous carcinoma and 6 cases of mixed mucinous carcinoma. There were 35 cases of phyllodes tumors,including 9 be-nign,18 borderline and 8 malignant cases. There was no significant difference in T1WI signal and enhancement mode between breast mucinous carcinoma and phyllodes tumors. There were significant differences in age,long di-ameter,morphology,lobulation,border,ADC value,EER,T2WI signal and TIC curve pattern(P < 0.05). The area under ROC(AUC)of ADC value and EER for breast mucinous adenocarcinoma and phyllodes tumor was 0.7036 and 0.8029,respectively. Conclusions Multi-model functional MRI can effectively distinguish breast mucinous adenocarcinoma from phyllodes tumor(≥ 3 cm),and EER is more accurate than ADC value.

Objective To detect the gene expressions of phosphatase and tensin homolog on chromosome ten (PTEN) engineered mesenchymal stem cells (MSCs) and observe their effects on DBTRG glioma cells.Methods Primary culture of human umbilical cord MSCs was performed;48 h after PTEN transfection into MSCs by liposomes,transfection results were detected under microscope.(1) Transfected MSCsPTEN were used as experimental group and MSCs as control group.PTEN protein and gene expressions of the cells from the two groups were detected by Western blotting and real time-PCR;soluble PTEN protein in the culture supematants was measured using ELISA.(2) In vitro cultured DBTRG cells were divided into four groups,and MSCs supernatant and 25％,50％ and 100％ MSCsPTEN supernatants were added into the four groups,respectively;24 h after culture,calcein AM/EthD-1 staining was used to detect the activity of DBTRG cells which co-cultured with different percentages of MSCsPTEN medium.(3) In vitro cultured DBTRG cells were divided into three groups,and MSCs supernatant and 25％ and 100％ MSCsPTEN supernatants were added into the three groups;RTCA was used to observe the growth curve of DBTRG cells.Results (1) A large number of red fluorescence masses were noted in the MSCsPTEN cells by microscope;real time-PCR and Western blotting indicated that the gene and protein expressions of PTEN in the experimental group were significantly higher than those in the control group (P＜0.05).PTEN content in the supernatants of the experimental group was significantly higher than that in the control group (P＜0.05).(2) CalceinAM/EthD-1 staining indicated that 25％,50％ and 100％ MSCsPTEN supernatant groups had significantly larger number of death DBTRG cells than MSCs supernatant group (P＜0.05);and with the increase of MSCsPTEN supeenatant percentages,the number of death DBTRG cells became larger (P＜0.05).(3) RTCA indicated that as compared with the MSCs supernatant group,25％ and 100％ MSCsPTEN supernatant groups had decreased DBTRG cell index.Conclusion After MSCsPTEN transfection,MSCsPTEN cells can stablely express targeted gene,and their supernatant can obviously promote the death of DBTRG cells and inhibit the growth of glioma cells;PTEN engineered MSCs may be an effective gene therapy for gliomas.

Objective To evaluate the effect of chronic filariasis patients with lymphedema after comprehensive cared. Meth?ods A total of 386 chronic filariasis patients with lymphedema received the comprehensive care including soaking feet by TCM washing feet by single Chinese medicine or clear water preventing and eliminating invasive wound physical training raising the limb and wearing suitable shoes. The attack frequency of inflammation of lymphatic vessels the stage of lymphedema dis?ease and leg circumference were observed before and after the care. Results After the comprehensive care the attack rates of inflammation of lymphatic vessels decreased from 9.65%to 4.67% and there was a significant difference χ 2=7.34 P=0.006 7 . The proportion of the patients with high stage of lymphedema disease decreased significantly all P 0.01 and the average leg circumference decreased of 1.06 cm. The skin appearance improved significantly. Other signs such as pitting edema ulcer and skin folds also improved significantly all P 0.01 . Conclusion The comprehensive care for chronic filariasis patients with lymphedema has a remarkable effect and is worthy of further application.

Chronic ulcer of the lower extremities amounts for a grave and serious problem for public health. Western medicine focuses on controlling infection, improving blood circulation, surgical debridement, skin grafting, etc, but there are bottlenecks in the treatment. Traditional Chinese medicine (TCM) has a long history and a legacy of sound clinical efficacy in this area. TCM has developed a unique, effective external theory, and a large number of topical prescriptions and external technology. Through this research, a safe and effective treatment protocol of TCM for chronic ulcer of the lower extremities can be formed. To this end, during China's "Eleventh Five-Year" Plan, special research committees and projects on TCM external treatments and external technologies were established. This study on ulcer of the lower extremities constitutes one of the major research topics.

Objective: To explore the effects and action mechanisms of Buyang Huanwu Decoction, a compound traditional Chinese herbal medicine, in wound healing of chronic skin ulcers of rats. Methods: A total of 54 male SD rats with back full-thickness skin lesion were used in this study. Except for the normal control group, the rats were injected with hydrocortisone for inducing chronic skin ulcers, and were randomly divided into untreated group and Buyang Huanwu Decoction group. The rate and the time of wound healing were observed. Immunohistochemical method and image analytical method were used to test the expression of vascular endothelial growth factor (VEGF) and microvessel count (MVC) in granulation tissue of chronic skin ulcers in the rats. Results: The rate of wound healing was significantly lowered in the untreated group as compared with the normal control group (P<0.01, P<0.05), and the time of wound healing was obviously longer too (P<0.01). In the Buyang Huanwu Decoction group, the rate of wound healing was significantly higher than that in the untreated group (P<0.01), and the time of wound healing was obviously shorter than the latter's (P<0.01). In the untreated group, the expression of VEGF and MVC were significantly lower than those in the normal control group (P<0.01); the expression of VEGF and MVC were obviously increased in the Buyang Huanwu Decoction group as compared with those in the untreated group (P<0.01). Conclusion: Buyang Huanwu Decoction has the effect to promote the wound healing for chronic skin ulcers of rats by regulating the expression of VEGF in granulation tissue of chronic skin ulcers.

To observe the effects of Fuhuang Shengji Yuchuang (FHSJYC) Ointment, a compound traditional Chinese herbal medicine, on the expressions of types I and III collagens in granulation tissue of wound in rats with diabetes.

OBJECTIVE: To observe the effects of Ru'ai Shuhou Recipe (RSR), a compound traditional Chinese herbal medicine, on 5-year recurrence rate after mastectomy in breast cancer. METHODS: A total of 300 patients with breast cancer were divided into two groups: treatment group and control group. The patients in the treatment group were treated with Western medicine and RSR, and the patients in the control group were treated only with Western medicine (the same as the treatment group). In the two groups, the 5-year recurrence rates after mastectomy in breast cancer were investigated. RESULTS: Thirty-four breast cancer patients were lost to five-year follow-up during the course of investigation, and 266 breast cancer patients went through the evaluation. The 5-year recurrence rate after mastectomy in the treatment group was significantly lower than that in the control group (P<0.05). The recurrence rate after mastectomy was influenced by positive lymph node, primary breast tumor size, clinical stage, and patients' health status. There was significant difference in the 5-year recurrence rates between the two groups (P<0.05) under the following conditions, such as the positive lymph nodes more than four, the primary breast tumor larger than two centimeters, and in the clinical stage II and III, estrogen receptor (ER)-positive/progesterone receptor (PR)-positive and ER-negative/PR-negative. The recurrence rate was not associated with the operation method and age distribution. CONCLUSION: RSR can reduce the 5-year recurrence rate after mastectomy in breast cancer.