Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Objective:To retrieve, evaluate and summarize the best evidence for the assessment and non-pharmacological management of chemotherapy-induced peripheral neuropathy.Methods:The literature related to the assessment and non-pharmacological management of chemotherapy-induced peripheral neuropathy was systematically searched from January 1, 2018 to December 4, 2023 in clinical decision support systems, guideline networks, databases and related society websites at home and abroad, including clinical decision-making, guidelines, expert consensus, evidence summary, systematic review, and randomized controlled studies. Four reviewers evaluated the quality of the included studies and extracted evidence.Results:A total of 18 articles were included, including 1 clinical decision, 2 guidelines, 3 expert consensuses, 5 evidence summaries, 4 systematic reviews, and 3 randomized controlled studies. A total of 21 pieces of evidence were summarized from 7 items: assessment, exercise therapy, acupuncture therapy, cryotherapy, compression therapy, health education, and multidisciplinary diagnosis and treatment.Conclusions:Non-pharmacological intervention is an effective means to improve chemotherapy-induced peripheral neuropathy. Medical personnel should combine professional judgment with patient′s will, prudently, wisely and clearly use the best evidence to prevent or reduce chemotherapy-induced peripheral neuropathy and improve patients′ quality of life.

ObjectiveTo study the efficacy of community rehabilitation combined with drug therapy on rehabilitation of patients with schizophrenia in rural communities， and to provide references for community rehabilitation of patients with schizophrenia in rural areas of our country. MethodA total of 81 patients in rural communities of three towns in Lanzhou new area who met the diagnostic criteria of International Classification of Diseases， tenth edition （ICD-10） were randomly divided into study group （n=39） and control group （n=42）. Both groups received general drug treatment. On this basis， the study group received community rehabilitation intervention for 6 months. Before and after intervention， Positive and Negative Syndrome Scale （PANSS）， Activity of Daily Living Scale （ADL）， Social Disability Screening Schedule （SDSS） and Schizophrenia Quality of Life Scale （SQLS） were used to assess the psychotic symptoms， social function and quality of life in two groups. ResultsAfter intervention， the PANSS total score ［（55.54±14.75） vs. （63.52±13.95）， t=-2.504， P=0.014］， negative symptom factor score ［（15.64±4.50） vs. （18.38±5.13）， t=-2.547， P=0.013］ and general psychopathological factor score ［（25.67±7.39） vs. （30.35±6.60）， t=-3.015， P=0.003］ of the study group were lower than those of the control group. The SDSS score ［（8.21±3.78） vs. （10.21±4.67）， t=-2.118， P=0.037］ and SQLS score ［（18.97±6.23） vs. （22.43±8.04）， t=2.150， P=0.035］ of the study group were lower than those of the control group. ConclusionCommunity rehabilitation combined with drug therapy may help alleviate psychotic symptoms， improve social function and improve quality of life in patients with schizophrenia in rural communities.

Objective: To understand the present situation of physical activity and its influencing factors, and to provide a reference for improving the level of physical activity and making the intervention measures. Methods: The method of random stratification was used to select 4 740 pre school children aged 3-6 from 17 kindergartens in 12 counties and districts of Nanchang City, The questionnaire of physical activities of young children and the questionnaire of parents of physical activities of young children were applied to conduct a survey. Results: Compared with weekday PA and MVPA, preschool children’s weekends decreased, SB increased. The differences in PA, MVPA and SB on weekdays and weekends were statistically significant( P <0.01). The proportion of PA and MVPA reaching the recommended amount during the working day of preschool children were 44.9%-59.2%, 45.4%- 61.7%.The proportion reaching the recommended amount of PA and MVPA on weekends were 24.7%-27.8%, 24.5%-29.9%, and the proportion reaching the recommended amount on weekdays was higher than that on weekends. Conclusion There is still gap between actual amount of physical activity and the recommended amount. There are different modes of activity on weekdays and weekends, and weekends are the least active periods. Parents and teachers should pay enough attention to the establishment of "social campus family" model to improve the lack of physical activity of preschool children.

Objective: To investigate the role of the bone morphogenetic protein 2 (BMP2)⁃Smad1/5 and p38MAPK signaling pathways in the osteogenic differentiation of MSMSCs by insulin⁃like growth factor 1 (IGF1). Methods : A re⁃ combinant adenovirus (RAD) and IGF1 expressing IGF1 gene were constructed. After osteogenic induction, qRT⁃PCR and Western blot were used to detect the phosphorylation level of Smad1/5 and the expression of the BMP⁃2 protein in the BMP⁃Smad signaling pathway; immunohistochemistry was used to observe the nuclear translocation of Smad1/5; qRT⁃PCR and Western blot were used to detect IGF with Noggin and SB203580, inhibitors of the p38MAPK signaling path⁃ way 1⁃mediated osteogenic differentiation of MSMSCs Results: The recombinant IGF1 adenovirus was constructed suc⁃ cessfully. MSMSCs were cultured in inductive medium after infection with different concentrations of Ad⁃IGF1, and then, the protein levels of BMP2 and p⁃Smad1/5 increased. IGF1 can also induce nuclear translocation of Smad1/5. In addition, Noggin significantly reduced the phosphorylation level of Smad1/5 and the formation of mineralized nodules in the MSMSCs. The mRNA levels of Runx2, OPN and ALP also decreased. In contrast, SB203580 decreased neither the phosphorylation level of p38 nor the mRNA expression of Runx2, OPN and ALP in the Ad⁃IGF1 MSMSCs Conclu⁃sion IGF1 can promote the osteogenic differentiation of MSMSCs via the BMP2⁃Smad1/5 signaling pathway. In con⁃ trast, IGF1 may not promote the osteogenic differentiation of MSMSCs via the p38MAPK signaling pathway.

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

Objective To summarize and analyze the clinical features and diagnosis and treatment methods of patients with restless leg syndrome (RLS) mainly characterized by abdominal symptoms, and provide the basis for improving the correct diagnosis and treatment rate of RLS. MethodsThree patients, admitted to and completed routine laboratory examination (blood analysis, blood biochemistry, serum iron, serum ferritin, etc.), imaging, electroencephalogram, and electromyography in our hospital from August 2018 to April 2019, were chosen in our study. Polysomnography monitor was used to record the patient's sleep process for 12 h. Sleep and psychological status were evaluated by Pittsburgh Sleep Quality Index (PSQI), RLS Self-rating Depression Scale (IRLS), Epworth Sleeping Scale (ESS), RLS-quality of life (RLS-QoL), Hamilton Anxiety Scale (HAMA) and Hamilton Depression Scale (HAMD).Results General examination, physical examination of nervous system, imaging, electroencephalogram, electromyography and routine biochemical examination showed no obvious abnormalities in the three patients. Serum iron decreased in two patients. Polysomnography results indicated that the sleep efficiency of the three patients was obviously decreased, the sleep latency was prolonged, the time of awakening during sleep and the times of awakenings were increased; and the sleep structure was disordered; rapid eye movement sleep was significantly reduced. Meanwhile, all three patients had moderate and severe PLM events. Excessive sleepiness in the daytime was noted; the quality of life was affected about one month, and the severity was severe; all three patients had severe anxiety without evident depression. The condition of three patients with pramipexole hydrochloric acid after treatment were significantly improved.Conclusion s RLS subtype with abdominal symptoms as chief complaint is relatively rare in clinical practice. If patients have abdominal pain and discomfort during sleep at night and can exclude organic diseases of the digestive system, the possibility of RLS should be considered. A good therapeutic effect can be obtained by using dopa receptor agonist such as pramipexole.

Objective To investigate the prevalence and related characteristics of alcohol dependence in the Pumi people of Ninglang area in Yunnan Province.Methods By stratified multistage cluster randomization,542 residents were interviewed by psychiatrists using the structural questionnaire MINI-International Neuropsychiatric Interview.Results The prevalence of drinking in the study were 37.3％,13.6％ and 22.5％ for the male,female and the total sample.There were significant differences of alcohol dependence between males and females (x2 =304.310,P＜0.01) in which males were significantly higher than those in females.The current prevalence of alcohol dependence in Pumi people was 4.8％(95％CI=3.0％-6.6％),and standardized current prevalence was 3.3％.The current prevalence of alcohol dependence in males was 9.3％,which was significantly higher than that (2.1％) in females (x2 =14.613,P＜0.01).The prevalence of alcohol dependence in the Pumi people was 6.1％ in the 21-30 years old,and 8.6％ in the 51-60 years old.There were one case of major depression,one case of panic disorder,and five cases of insomnia.Conclusion The prevalence of alcohol dependence in Pumi people of Ninglang areas is high.Alcohol dependence has become one of the most common mental disorders and the public health problem.It is necessary to carry out prevention research in the future.

Objective To explore the prevalence of depressive disorder in the Mosuo ethnic minority in Ninglang district,Yunnan Province.Methods By stratified random sampling,1 121 Mosuo subjects aged 15 or above were selected and assessed by the MINI-international neuropsychiatric interview according to the Structured Clinical Interview for DSM-V-TR Axis I Disorders-Patient Edition for mental disorders.Results The standardized time-point prevalence of major depressive disorder in Mosuo nationality was 1.74％,and 1.69％ (95 ％ CI =1.32％-2.15 ％) in males and 1.77％ (95 ％ CI =1.39％-2.15 ％) in females.There was no statistically significant difference in the prevalence of major depressive disorder between males and females (x2 =0.051,P＞0.05).The standardized time-point prevalence of dysthymic disorder in Mosuo nationality was 0.78％,and 0.66％ (95％ CI=0.54％-0.78％) in males and 0.88％ (95％ CI=0.74％-1.02％) in females (x2=1.232,P＞0.05).Those aged 40-54 years old had the highest adjusted prevalence of depressive episodes(1.48％ (95％CI=0.77％-2.18％)).Conclusion The prevalence of depressive disorder in Mosuo nationality is in a low level,and the middle-age Mosuo people has the highest time-point prevalence.

Objective To investigate the diagnostic correlation and sensitivity of amplitude integrated electroencephalogram (aEEG),brainstem auditory evoked potential (BAEP) and cranial magnetic resonance imaging (MRI) for acute bilirubin encephalopathy (ABE) in the newborn.Method Term and near-term neonates (gestational age ≥ 35 weeks) with hyperbilirubinemia (the level of bilirubin over than 95th percentile) of high and intermediate risk group admitted in the neonatal ward of Guangxi Maternal and Child Health Care Hospital from Jan 2014 to Dec 2015 were recruited retrospectively.The infants were assigned to ABE group and non-ABE group according to the diagnostic criteria of ABE.The clinical data of the newborns were collected and the diagnostic correlation between clinical diagnosis and aEEG,BAEP and cranial MRI were analyzed.The receiver operating characteristic (ROC) curve was adopted to assess the diagnostic efficiency of the peak level of serum bilirubin,aEEG,BAEP and cranial MRI on the early diagnosis of ABE.Result A total of 152 newborns with hyperbilirubinemia were recruited,including 33 cases in the ABE group and 119 cases in non-ABE group.(1) The results of aEEG and MRI were marginally positively correlated with clinical diagnosis of ABE (aEEG:r =0.487,P ＜ 0.001;MRI:r =0.220,P=0.018),while the results of BAEP were closely related to the clinical diagnosis of ABE (r =0.593,P ＜ 0.001);(2) The results of BAEP and MRI on the diagnosis of ABE were positively correlated with those of aEEG (BAEP:r =0.424,P ＜ 0.001;MRI:r =0.307,P ＜ 0.001).(3) The area under the ROC curves for predicting the onset of ABE were 0.899 for the peak level of serum bilirubin,0.767 for BAEP,0.738 for aEEG and 0.590 for MRI.Conclusion There was the correlation on the diagnosis of ABE among the methods of aEEG,BAEP and MRI.The combined diagnosis of the three methods could play a complementary role.The aEEG contributed to the early diagnosis of ABE with high sensitivity.