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*

Inflammatory bowel disease (IBD) is a chronic and recurrent intestinal disease, and has become a major global health issue. Individuals with IBD face an elevated risk of developing colorectal cancer (CRC), and recent studies have indicated that mitochondrial dysfunction plays a pivotal role in the pathogenesis of both IBD and CRC. This review covers the pathogenesis of IBD and CRC, focusing on mitochondrial dysfunction, and explores pharmacological targets and strategies for addressing both conditions by modulating mitochondrial function. Additionally, recent advancements in the pharmacological modulation of mitochondrial dysfunction for treating IBD and CRC, encompassing mitochondrial damage, release of mitochondrial DNA (mtDNA), and impairment of mitophagy, are thoroughly summarized. The review also provides a systematic overview of natural compounds (such as flavonoids, alkaloids, and diterpenoids), Chinese medicines, and intestinal microbiota, which can alleviate IBD and attenuate the progression of CRC by modulating mitochondrial function. In the future, it will be imperative to develop more practical methodologies for real-time monitoring and accurate detection of mitochondrial function, which will greatly aid scientists in identifying more effective agents for treating IBD and CRC through modulation of mitochondrial function.

In order to help the standardized residency training of nuclear medicine residents, the standardized residency training base of nuclear medicine residents in Peking University People's Hospital, combined with forty-five nuclear medicine departments of teaching hospital, established the WeChat official account of "Standardized Residency Training of Nuclear Medicine" and submitted one teaching case per week. The appearance of the WeChat official account of "Standardized Residency Training of Nuclear Medicine" has made up for the shortcomings of insufficient teaching cases in a single training base, strengthened the training of residents' imaging diagnostic thinking, and promoted mutual learning among the bases. By writing teaching cases, instructors and residents have opened up ideas, increased knowledge, improved self-learning ability, and cultivated imaging diagnostic thinking. With the flexible and practical features of the WeChat official account, the consciousness and sustainability of residents' learning have been enhanced.

Student standardized patient refers to that students are trained to become standardized patients, and then they are applied to clinical teaching or examinations. The training of student standardized patients in China started late, but the development is relatively balanced and rapidly in recent years. Although an outline-style standardized teaching model has not yet been formed, the basic training framework of "basic training-case-specific training-training assessment" tends to be consistent, and different universities have certain specific innovations. The review combs the literature on the current training mode of student standardized patients in China, summarizes the innovations in four aspects: training population, training mode, training purpose and application method, then makes the conclusion about the objective problems and subjective difficulties faced by the current training, and proposes corresponding countermeasures and prospects.

The patient, a 50-year-old male, was admitted to the hospital on April 1, 2020 with the chief complaint of "confusion with vomiting for 1 hour due to falling from height ", and the emergency craniotomy was performed. Intermittent fever with a maximum temperature of 38 ℃ occurred 3 days after the surgery, and the inflammation indexes were all higher than the upper limit of the reference values. Recurrent fever remained despite after empirical anti-infection treatment. On April 12, the patient was treated with vancomycin combined with meropenem after cerebrospinal fluid specimens routine and biochemical tests suggested intracranial infection. After 48 hours of cultivating the cerebrospinal fluid and blood specimens, some small, clear, needle-like colonies were found and they were identified as Mycoplasma humanum by using 16S rRNA gene. Eventually, the patient died due to the severity of the disease and complications.

Objective:To further understand the etiological distribution of fever of unknown origin (FUO) in patients underwent 18F-fluorodeoxyglucose (FDG) PET/CT imaging, and to explore the significance of 18F-FDG PET/CT in the diagnosis of different types of diseases in FUO patients. Methods:From January 2013 to August 2019, the clinical and PET/CT image data of 466 FUO patients (194 males, 272 females, age: 3-91(52.7±20.9) years) in Peking University People′s Hospital were retrospectively analyzed. The etiological distribution of FUO patients was analyzed according to the final clinical diagnosis. PET/CT imaging manifestations were analyzed for different types of diseases in FUO patients. The role of 18F-FDG PET/CT in differential diagnosis for FUO was evaluated through clinical questionnaire. Data were analyzed by using χ2 test. Results:The common disease types in FUO patients were rheumatic and immune disease (48.7%, 227/466), infection (28.5%, 133/466) and malignant tumor (11.2%, 52/466). For PET/CT imaging, 95.5% (445/466) of the patients were positive, of which 313 (70.3%, 313/445) were found to have focal lesions, and the other 132 (29.7%, 132/445) showed only nonspecific abnormal uptake. Lesions in different types of diseases were varied in the location, morphological changes as well as FDG uptake. The results of the questionnaire showed that PET/CT imaging could benefit 95.9% (447/466) of the patients in the FUO diagnosis and treatment. PET/CT reached direct etiological diagnosis of malignant tumors more frequently than other types of diseases ( χ2 values: 14.408-25.466, all P<0.001). PET/CT helped or directly reached the etiological diagnosis of rheumatologic diseases more frequently than infection and unknown cause group( χ2 values: 7.922, 9.647, both P<0.05). Conclusion:18F-FDG PET/CT imaging has high clinical value in the diagnosis of FUO etiology and can provide multilevel diagnostic information.

OBJECTIVE: To detect pathogenic variation in a pedigree affected with hereditary spastic paraplegia type 31 and explore its molecular pathogenesis. METHODS: Customized Roche NimbleGen capture probes were used to capture all exons of the target genes in relation with hereditary spastic paraplegia. The DNA samples were also assayed with fluorescent quantitative PCR as well as chromosomal microarray analysis using CytoScan HD chip. RESULTS: The proband and her father and grandfather were found to carry a deletion for position 85 992 693-86 842 693 on chromosome 2, which spanned approximately 900 kb and encompassed the REEP1 gene. The latter has been specifically associated with hereditary spastic paraplegia type 31. The same deletion was not found in her mother who is phenotypically normal. CONCLUSION The deletional variation of the REEP1 gene probably underlies the disease in this pedigree.
Female ; Humans ; Membrane Transport Proteins ; supply & distribution ; Paraplegia ; Pedigree ; Sequence Deletion ; Spastic Paraplegia, Hereditary ; genetics

Objective To evaluate the value of DTI in mild articular cartilage injury in patellofemoral joint.Methods The DTI and arthroscopy data of 82 patients wih routine MRI diagnosed as mild articular cartilage injury were analyzed retrospectively.According to the results of arthroscopy,40 cases of mild articular cartilage injury with Outerbridge classification Ⅰ or Ⅱ were divided into experimental group,and 33 cases with normal patellofemoral articular cartilage were divided into control group.There were 8 articular cartilage injury patients with Outerbridge classification Ⅲ or Ⅳ in patello-femoral join were excluded.The DTI data were analyzed compared with arthroscopy.Results Arthroscopy detected 62 lesions of cartilage injury in experimental group.Totally 49 lesions (49/62,79.03 ％) were detected by ADC pseudocolor image and 51 lesions (51/62,82.25 ％) were detected by FA pseudocolor image.The DTI pseudocolor images of articular cartilage injury showed uneven levels.The red or pink levels can been observed.Compared with the control group,ADC value increased and FA value decreased significantly in experimental group (both P＜0.05).Conclusion DTI can clearly display and detect mild articular cartilage injury in patellofemoral joint,which provide valuable information for early cartilaginous injury.

Objective To investigate the correlation of traditional Chinese medicine (TCM) syndrome types of chronic gastritis with Helicobacter pylori (Hp) eradication rate after anti-Hp treatment. Methods A total of 180 chronic gastritis patients with Hp infection were differentiated into spleen-stomach insufficiency syndrome, spleen-stomach dampness-heat syndrome, and liver depression and qi stagnation syndrome, and each syndrome group had 60 cases. Patients in each group were evenly divided into two subtypes, and were treated with triple therapy or quadruple therapy for 10 days respectively. After treatment, the Hp eradication rate in each group was compared. Results (1) The overall Hp eradication rate was 78.3%. No matter after triple therapy or quadruple therapy, patients with spleen-stomach insufficiency syndrome had the lowest Hp eradication rate (61.7%), which was lower than that of the patients with spleen-stomach damp-heat syndrome (88.3%) and the patients with liver depression and qi stagnation syndrome (85.0%), the difference being statistical significance (P < 0.05 or P < 0.01). However, the difference of Hp eradication rate between spleen-stomach damp-heat group and liver depression and qi stagnation group was not statistically significant (P>0.05). (2) A total of 10 cases had adverse reaction such as nausea and vomiting, stomachache, and gastric distention, 8 cases from spleen-stomach insufficiency group, one from spleen-stomach dampness-heat group, and one from liver depression and qi stagnation group. Spleen-stomach insufficiency group had higher incidence of adverse reaction than the other two groups (P < 0.05). Conclusion The Hp eradication rate after anti-Hp treatment varied in chronic gastritis patients with different TCM syndrome types, and the rate in patients with spleen-stomach insufficiency syndrome was lower than that of the patients with spleen-stomach damp-heat syndrome and the patients with liver depression and qi stagnation syndrome no matter after triple therapy or quadruple therapy.

Objective To investigate the serum level of carboxy-terminal telopeptide of type I collagen (ICTP) and explore its correlation with MMP-2 and MMP-9 in patients with coronary artery disease (CHD). Methods A total of 103 CHD patients treated in our hospital between October, 2013 and May, 2014 were enrolled, including 39 with stable angina pectoris (SAP), 39 with unstable angina (UA), and 25 with acute myocardial infarction (AMI), with 38 non-CHD volunteers as the control group. The serum levels of ICTP, MMP-2, and MMP-9 were detected in all the subjects using enzyme-linked immunosorbent assay (ELISA). Results No significant difference in serum levels of MMP-2, MMP-9, or ICTP was found between the control and SAP groups or between UA and AMI groups (P>0.05), but the latter two groups had significantly higher serum levels of MMP-2, MMP-9, and ICTP than the former two groups (P<0.05). Serum ICTP level was found to negatively correlated with the fibrotic area and positively with the lipid component in the plaques (P<0.05). Regression analysis revealed significant positive correlations of serum ICTP with MMP-2 and MMP-9 (P<0.05). Conclusions An elevated serum ICTP level is indicative of the presence of unstable plaques in CHD patients. Serum ICTP is more strongly correlated with MMP-2 than with MMP-9, and can be used as a non-invasive marker for assessing vulnerable plaques in patients with acute coronary syndrome.