Effect of Tongluo Juanbi Granules on Inflammatory Injury and Apoptosis of Osteoarthritis Based on TLR4/MyD88/NF-κB Signaling Pathway / 中国实验方剂学杂志

ObjectiveTo investigate the effects of Tongluo Juanbi granules on chondrocyte apoptosis and Toll-like receptor 4 （TLR4）/myeloid differentiation factor 88 （MyD88）/nuclear factor-κB （NF-κB） signaling pathway of rabbits with knee osteoarthritis （KOA） and study the mechanism of Tongluo Juanbi granules in the prevention and treatment of KOA. MethodThirty New Zealand rabbits were randomly assigned to the following five groups （n=6）： sham group， model group， low-dose and high-dose groups of Tongluo Juanbi granules （4.1 and 8.2 g·kg-1·d-1）， and celecoxib group （10.9 mg·kg-1·d-1）. The KOA model was established by destabilization of the medial meniscus （DMM） for six weeks. Six weeks after the modeling， the drug was given once a day for eight weeks. The pathological changes of cartilago articularis were observed by hematoxylin-eosin （HE） staining and Safranin O-Fast Green staining. Terminal deoxynucleotidyl transferase dUTP nick end labeling （TUNEL） staining was performed to detect chondrocyte apoptosis. Enzyme-linked immunosorbent assay （ELISA） was used to detect the contents of interleukin-1β （IL-1β） and tumor necrosis factor-α （TNF-α） in synovial fluid. The mRNA and protein expression levels of genes related to the TLR4/MyD88/NF-κB signaling pathway were detected by real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） and Western blot， respectively. ResultCompared with the sham group， the cartilago articularis of the model group significantly degenerated. Mankin's score was increased （P<0.01）， and the contents of IL-1β and TNF-α in synovial fluid were increased （P<0.01）. The number of apoptosis of chondrocytes was increased （P<0.01）. The mRNA and protein expressions of TLR4， MyD88， and NF-κB p65 in cartilage tissue were up-regulated （P<0.01）， while the mRNA and protein expressions of Bcl-2 were down-regulated （P<0.01）. Compared with the model group， chondrocyte degeneration in both low-dose and high-dose groups of Tongluo Juanbi granules was improved， and Mankin's score was decreased （P<0.01）. The contents of IL-1β and TNF-α were decreased （P<0.01）， and the number of apoptosis of chondrocytes was decreased （P<0.01）. The mRNA and protein expressions of TLR4， MyD88， and NF-κB p65 in cartilage tissue were down-regulated （P<0.01）， while the mRNA and protein expressions of Bcl-2 were up-regulated （P<0.01）. In addition， in the above observation indicators， the high-dose group of Tongluo Juanbi granules was significantly superior to the low-dose group of Tongluo Juanbi granules. ConclusionTongluo Juanbi granules could inhibit chondrocyte apoptosis in rabbits with KOA and improve cartilage degeneration， which may be related to inhibiting inflammatory responses mediated by TLR4/MyD88/NF-κB signaling pathway.

Analysis of Moral Emotion from the Perspective of Moral Injury Research / 中国医学伦理学

Moral emotion is a kind of psychological activity that generated when dealing with realistic moral relationship or analyzing human behaviors, expressed as emotional emotions of love and hatred. From the perspective of moral injury research, on the one hand, moral emotion expresses as emotional collapse, which reflects the huge gap between reality and moral cognition, and deviates from values; on the other hand, it shows the typical symptoms of moral injury, such as shame, guilt, anger, apathy and so on. Based on this, the therapy of moral injury should start from solving the ethical conflict of moral injury, and carry out the healing process of "ethical and moral cognitive education, enlightening the thinking of core value issues, encouraging and guiding independent moral practice" in stages according to the different levels of individual moral emotion. As a result, moral emotion can be rational enough to promote healing moral injury.

Clinical features and genetic analysis of a patient with type 2 neurofibromatosis manifested as oculomotor nerve palsy / 中华医学遗传学杂志

OBJECTIVE@#To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis.@*METHODS@#A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents. Peripheral blood samples were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#MRI revealed bilateral vestibular Schwannomas, bilateral cavernous sinus meningiomas, popliteal neurogenic tumors, and multiple subcutaneous nodules in the patient. DNA sequencing revealed that he has harbored a de novo nonsense variant of the NF2 gene, namely c.757A>T, which has replaced a codon (AAG) encoding lysine (K) at position 253 with a stop codon (TAG). This has resulted in removal of the Merlin protein encoded by the NF2 gene from position 253 onwards. The variant was not found in public databases. Bioinformatic analysis suggested that the corresponding amino acid is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting+PP3+PP4).@*CONCLUSION@#The heterozygous nonsense variant c.757A>T (p.K253*) of the NF2 gene probably underlay the disease in this patient with an early onset, atypical but severe phenotype.

Lipid-lowering Effect of Active Components in Common Chinese Medicine： A Review / 中国实验方剂学杂志

Dyslipidemia is a common metabolic disease caused by abnormal lipoprotein metabolism in human body. According to pathogenesis， it is divided into primary dyslipidemia and secondary dyslipidemia. The former is caused by genetic defects， and the latter is caused by diseases， drugs， unhealthy diets， and lifestyle. The clinical manifestations are xanthoma， arteriosclerosis， and other symptoms of coronary heart disease and peripheral vascular disease. Dyslipidemia can cause a variety of diseases， such as cardiovascular disease， diabetes， and cancer， seriously threatening people's quality of life and life safety， so the research on drugs against dyslipidemia is more urgent. In spite of manifest efficacy， chemical antilipemic agents such as lovastatin are accompanied by some adverse reactions， and there is recurrence after drug withdrawal. Compared with chemical drugs， Chinese medicine has the advantages of multi-pathway， multi-target， multi-level regulation of dyslipidemia， with few side effects. Modern medical research has shown that Chinese medicine can affect lipid synthesis， decomposition， and absorption and improve liver lipid and bile acid metabolism by regulating the peroxisome proliferator-activated receptor （PPAR） signaling pathway， AMP-activated protein kinase （AMPK） signaling pathway， cyclic adenosine monophosphate （cAMP） signaling pathway， adipocytokine signaling pathway， farnesoid X receptor （FXR）/small heterodimer partner （SHP） signaling pathway， phosphatidylinositol 3-kinase （PI3K）/protein kinase B （Akt） signaling pathway， etc.， thereby exerting a role in lowering lipid. Therefore， this paper summarized the mechanism of effective components in Chinese medicine in lowering blood lipid to provide new ideas and a theoretical basis for the prevention and treatment of lipid metabolic diseases by Chinese medicine in clinical practice.

Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic features of a child with autosomal dominant mental retardation type 40 (MRD40) due to variant of the CHAMP1 gene.@*METHODS@#Clinical characteristics of the child were analyzed. Genetic testing was carried out by low-depth high-throughput and whole genome copy number variant sequencing (CNV-seq) and whole exome sequencing (WES). A literature review was also carried out for the clinical phenotype and genetic characteristics of patients with MRD40 due to CHAMP1 gene variants.@*RESULTS@#The child, a 11-month-old girl, has presented with intellectual and motor developmental delay. CNV-seq revealed no definite pathogenic variants. WES has detected the presence of a heterozygous c.1908C>G (p.Y636*) variant in the CHAMP1 gene, which was carried by neither parent and predicted to be pathogenic. Literature review has identified 33 additional children from 12 previous reports. All children had presented with developmental delay and mental retardation, and most had dystonia (94.1%), delayed speech and/or walking (85.2%, 82.4%) and ocular abnormalities (79.4%). In total 26 variants of the CHAMP1 gene were detected, with all nonsense variants being of loss-of-function type, located in exon 3, and de novo in origin.@*CONCLUSION@#The heterozygous c.1908C>G (p.Y636*) variant of the CHAMP1 gene probably underlay the WRD40 in this child. Genetic testing should be considered for children featuring global developmental delay, mental retardation, hypertonia and facial dysmorphism.

Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of three children with KBG syndrome.@*METHODS@#Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out.@*RESULTS@#All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype.@*CONCLUSION@#The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.

Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree featuring congenital profound syndromic deafness and chronic constipation, and provide prenatal diagnosis for a high-risk fetus.@*METHODS@#Whole-exome sequencing was carried out to analyze the sequences of genes associated with hereditary deafness, and multiplex ligation-dependent probe amplification (MLPA) was used to verify the candidate variant in the proband's parents and the fetus.@*RESULTS@#The proband was found to have harbored a heterozygous deletion of SOX10, a pathogenic gene associated with Waardenburg syndrome type 4C (WS4C). The same deletion was found in her mother (with profound syndromic deafness and chronic constipation) and the fetus, but not in her father with normal hearing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the SOX10 gene deletion was predicted to be a pathogenic variant (PVS1+PM2_Supporting+PP1+PP4).@*CONCLUSION@#The pedigree was diagnosed with WS4C, which has conformed to an autosomal dominant inheritance. Deletion of the entire SOX10 gene, as a loss-of-function variant, probably underlay its pathogenesis. Above finding has facilitated genetic counseling and prenatal diagnosis for this family.

Genetic diagnosis of Branchio-Oto syndrome pedigree due to a de novo heterozygous deletion of EYA1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with Branchio-Oto syndrome (BOS).@*METHODS@#A pedigree with BOS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples of the proband and her parents were collected. Whole exome sequencing (WES) was carried out for the proband. Multiplex ligation-dependent probe amplification (MLPA) was used to verify the result of WES, short tandem repeat (STR) analysis was used to verify the relationship between the proband and her parents, and the pathogenicity of the candidate variant was analyzed.@*RESULTS@#The proband, a 6-year-old girl, had manifested severe congenital deafness, along with inner ear malformation and bilateral branchial fistulae. WES revealed that she has harbored a heterozygous deletion of 2 466 kb at chromosome 8q13.3, which encompassed the EYA1 gene. MLPA confirmed that all of the 18 exons of the EYA1 gene were lost, and neither of her parents has carried the same deletion variant. STR analysis supported that both of her parents are biological parents. Based on the guidelines from the American College of Medical Genetics and Genomics, the deletion was classified as pathogenic (PVS1+PS2+PM2_Supporting+PP4).@*CONCLUSION@#The heterozygous deletion of EYA1 gene probably underlay the pathogenicity of BOS in the proband, which has provided a basis for the clinical diagnosis.

Etiologic analysis of hand, foot, and mouth disease in a sentinel surveillance hospital in Guangzhou City in 2017-2021 / 公共卫生与预防医学

Objective To investigate etiologic characteristics of hand, foot, and mouth disease (HFMD) in a sentinel hospital in Guangzhou from 2017 to 2021, and to provide a scientific basis for the prevention and control of HFMD. Methods Descriptive epidemiologic methods were used to analyze the etiologic characteristics of mild cases of HMFD during 2017-2021. Results A total of 1 633 specimens of mild cases of HMFD were collected from 2017 to 2021. The total enterovirus (EV) positive rate was 78.41%, among which the positive rates of the main pathogen Cox A6, Cox A16, Cox A10, and EV71 were 40.83%, 17.68%, 6.13%, and 1.62%, respectively. The total positive rate of enteroviruses and the positive rate of enteroviruses of all types in each year were statistically different (P<0.001). In 2017-2021, the prevalence of HFMD in Guangzhou was mainly Cox A6, followed by Cox A16 which had the highest positive rate in 2018 (24.62%). The positive rate of EV71 decreased year by year. Cox A6 was highly prevalent from June to December every year, while the detection rate of Cox A16 was high from April to August every year. The positive detection rate of EV71 was high from January to May in 2017 and low from 2018 to 2021, with no epidemic peak. Conclusion From 2017 to 2021, the main pathogen of HMFD in Guangzhou is Cox A6, not EV71 or CoxA16, which suggests that it is of great significance to strengthen the monitoring of epidemic trend of HFMD for the prevention and control of HFMD.

Research advances in total pancreatectomy with autologous islet cell transplantation / 临床肝胆病杂志

Since the 1970s， patients with chronic pancreatitis （CP） have benefited from total pancreatectomy with autologous islet cell transplantation （TPAIT）. With the continuous development of surgical techniques and perioperative management over the past few decades， there have been improvements in islet cell function， insulin independence rate， and the survival rate of patients. This article summarizes the preoperative indications for TPAIT， the development of surgical operations， postoperative management and monitoring， and prognosis， so as to help clinicians learn more about TPAIT.

Expert consensus on COVID-19 vaccination for children with special medical conditions / 上海预防医学

Children with certain comorbidities and immunocompromising conditions are highly vulnerable to SARS-CoV-2 infection. Vaccination against SARS-CoV-2 is an important strategy to reduce death， critical illness and overall disease burden. With the evolving and increasing transmission of SARS-CoV-2， universal vaccination is essential to achieve this goal. Children with special medical conditions are considered as the priorities for SARS-CoV-2 vaccination. However， vaccine hesitancy towards the implementation of SARS-CoV-2 vaccination currently remains an urgent challenge. In order to promote the sustainable vaccination for those children in Shanghai as well as China， Shanghai municipal center for disease control and prevention， together with the national children’s medical center， children’s hospital of Fudan university and the expert group on immunization planning of the Shanghai preventive medicine association， organized a consensus expert working group to formulate the evidence-based recommendations and implementation suggestions for children with common chronic diseases， allergy history， diseases involving adverse events related to vaccination， and immunocompromising conditions， based on the published evidence of SARS-CoV-2 vaccination for populations and children with special medical conditions.

Clinical characteristics of family clustering pediatric and adult cases with severe acute respiratory syndrome coronavirus 2 Omicron variant infection / 中华传染病杂志

Objective:To investigate the clinical characteristics of family clustering pediatric and adult cases with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant infection in Shanghai City.Methods:A field investigation among the pediatric cases with Omicron variant infection and their household contacts from April 4 to April 30, 2022 in Children′s Hospital of Fudan University was conducted. The informations on case finding, clinical manifestations and SARS-CoV-2 vaccination status were collected. The epidemiological and clinical characteristics were compared between pediatric cases and adult cases. The independent sample t test or chi-square test was used for statistical analysis, and the relative risk ( RR) and 95% confidence interval (95% CI) were used to evaluate the protective effect of vaccination on the infection of Omicron variant. Results:There were 1 274 family members in 297 families including 370 children and 904 adults of whom 1 110(87.13%) were infected with Omicron variant, with 989(89.10%) symptomatic and 121(10.90%) asymptomatic. There were 355 children infected with Omicron variant, of whom 337(94.93%) were symptomatic, and the main manifestations were fever (96.74%(326/337)) and cough (40.36%(136/337)). Only one pediatric case with Rett syndrome developed critically severe pneumonia. A total of 194 pediatric cases had imaging examination, 64(32.99%) showed pulmonary inflammatory lesions. There were 755 adult cases infected with Omicron variant, of whom 652(86.26%) reported symptoms, and the main manifestations were fever (73.16%(477/652)) and cough (49.85%(325/652)). Among symptomatic cases, fever was more common in pediatric cases than in adult cases, while cough was more common in adult cases than in pediatric cases, and the differences were both statistically significant ( χ2=80.87 and 8.04, respectively, both P<0.01). The fever spike was higher in pediatric cases than in adult cases ((39.3±0.7) ℃ vs (38.6±0.6) ℃), and the difference was statistically significant ( t=9.85, P<0.001). The interval from the onset of symptoms to cycle threshold (Ct) value of the nucleic acid of Omicron variant≥35 was longer in pediatric cases than in adult cases ((13.0±3.1) d vs (10.9±3.6) d), and the difference had statistically significance ( t=2.97, P=0.004). Among 160 children aged 3 to 18 years, 54 (33.75%) received two-dose vaccination. Among the 904 adults, 388 (42.92%) received two-dose vaccination and 293 (32.41%) received a booster dose. In the adult cases, the risk of symptomatic infection was reduced by only 8% ( RR=0.92, 95% CI 0.86 to 0.98, P=0.014) following two-dose vaccination, and the risks of fever and cough following booster vaccination were reduced by 42%( RR=0.58, 95% CI 0.49 to 0.67, P=0.001) and 50% ( RR=0.50, 95% CI 0.34 to 0.78, P=0.001), respectively. Conclusions:Secondary attack rate and symptomatic rate of household infection are high in the context of the Omicron variant outbreak in Shanghai. Symptomatic infection is common in children and adults in household setting. Fever is the most common symptom and fever duration is short. Booster vaccination may provide certain protection against common symptoms caused by Omicron variant infection.

Design and application of heating device and temperature control system for dialysis fluid bag in continuous renal replacement therapy / 中华危重病急救医学

In the process of continuous renal replacement therapy (CRRT), various factors such as the temperature of replacement fluid, the flow of fluid and the circulation of blood in cardiopulmonary bypass, lead to the temperature of the blood injected back into the body is often lower than normal. It leads to the decrease of body temperature and the occurrence of hypothermia, which can be life-threatening in severe cases. In clinical practice, medical staff mostly reduces the occurrence of hypothermia in patients with CRRT by means of the heating device of the machine, the heating of the liquid temperature box for cardiopulmonary bypass, and the application of heating blankets, but the effect is not ideal. Therefore, medical staff of the department of critical care medicine of the Second Affiliated Hospital of Anhui Medical University designed a heating device and temperature control system for CRRT dialysis fluid bag, and obtained the National Invention Patent of China (ZL 2021 1 0334906.7). The device includes a heating and thermal insulation device and a temperature control system, wherein the heating and thermal insulation device is composed of the body of the heating dialysis fluid bag and the temperature control structure, which solves the problems of safe and efficient liquid heating and thermal insulation during the CRRT process. The temperature control system can display the dynamic state of the patient's body temperature, adjust the temperature of the dialysis fluid bag in time, and monitor the temperature of the blood transfusion in real time through the cooperation of the five modules of data collection, data handle, data analysis, regulation and display. This design is applied to CRRT, which can achieve precise control of body temperature of critically ill patients, and has certain clinical significance.

Pharmacokinetics effect of 8 components of Baizhu Shaoyao San with processing method based on UPLC-MS/MS / 国际中医中药杂志

Objective:To explore the pharmacokinetics effect of 8 components of processed Baizhu Shaoyao San on rats.Methods:The rats were divided into processing group and unprocessing group, administered with decoction of Baizhu Shaoyao San by gavage respectively. Then, blood was collected from fundus vein at certain time to obtain the plasma. Finally, the contents of 8 components in plasma were detected and compared by UPLC-MS/MS method, and the methodology of the experiment was tested. The drug concentration in blood and the collection time of blood were analyzed by DAS software, and the time curves of different groups were obtained, the pharmacokinetic parameters were calculated.Results:The blood peak concentration, peak time, area under the drug time curve, and average residence time of 8 components in the serum of rats in the raw product group and the fried product group were different to varying degrees.Conclusion:Processed Baizhu Shaoyao San could influence the behavior of the components measured in rats, which may affect the clinical therapeutic effect of Baizhu Shaoyao San.

Effect of ACC oxidase gene AhACOs on salt tolerance of peanut / 生物工程学报

ACC oxidase (ACO) is one of the key enzymes that catalyze the synthesis of ethylene. Ethylene is involved in salt stress response in plants, and salt stress seriously affects the yield of peanut. In this study, AhACO genes were cloned and their functions were investigated with the aim to explore the biological function of AhACOs in salt stress response, and to provide genetic resources for the breeding of salt-tolerant varieties of peanut. AhACO1 and AhACO2 were amplified from the cDNA of salt-tolerant peanut mutant M29, respectively, and cloned into the plant expression vector pCAMBIA super1300. The recombinant plasmid was transformed into Huayu22 by pollen tube injection mediated by Agrobacterium tumefaciens. After harvest, the small slice cotyledon was separated from the kernel, and the positive seeds were screened by PCR. The expression of AhACO genes was analyzed by qRT-PCR, and the ethylene release was detected by capillary column gas chromatography. Transgenic seeds were sowed and then irrigated with NaCl solution, and the phenotypic changes of 21-day-seedings were recorded. The results showed that the growth of transgenic plants were better than that of the control group Huayu 22 upon salt stress, and the relative content of chlorophyll SPAD value and net photosynthetic rate (Pn) of transgenic peanuts were higher than those of the control group. In addition, the ethylene production of AhACO1 and AhACO2 transgenic plants were 2.79 and 1.87 times higher than that of control peanut, respectively. These results showed that AhACO1 and AhACO2 could significantly improve the salt stress tolerance of transgenic peanut.

Bioequivalence study of cinacalcet hydrochloride tablets in healthy Chinese volunteers / 中国临床药理学与治疗学

AIM: To evaluate the bioequivalence of cinacalcet hydrochloride tablets in healthy Chinese volunteers. METHODS: A randomized, open, double-period and crossover trial was conducted, 48 healthy volunteers were administered a single dose of cinacalcet test tablets or reference tablets orally under each fasting and fed condition. The concentration of cinacalcet was determined by validated LC-MS/MS method. Pharmacokinetic parameters were calculated by Phoenix WinNonlin 8.0 to study its bioequivalence. RESULTS: The main pharmacokinetic parameters of test tablets and reference tablets under fasting condition were as follows: C

Analysis of findings of ear, nose, and throat exam of some freshmen in military college entrance examination in Shandong Province / 中国学校卫生

Objective@#To analyze the ear, nose, and throat exam of some freshmen in the military college entrance examination in Shandong Province in 2020 and to facilitate adolescent targeted health promotion.@*Methods@#The 1 411 freshmen participating in the military college entrance examination in Jinan, Zibo and Weifang of Shandong Province were included. The ear, nose, and throat exam were performed by professionals using electric otoscope, 5 meter whispering test, and front rhinoscope.@*Results@#Nasal septal deviation and hypertrophy of inferior turbinate accounted for the highest proportion. Among 489 cases of nasal septum deviation, the detection rate of Jinan (15.97%) was significantly lower than that of Weifang (43.60%) and Zibo (46.53%) ( χ 2=63.32， P <0.05). For deviation of nasal septum, the detection rate in students with urban residence (31.53%) was significantly lower than that of rural students (39.03%) ( χ 2=4.11， P <0.05). Seventy two cases of inferior turbinate hyperplasia were detected, and the detection rate in Jinan (2.99%) was significantly lower than that in Weifang (6.51%) and Zibo (6.04%) ( χ 2=6.63， P <0.05). The detection rate of tonsil hypertrophy was significantly lower in boys (4.63%), students from urban area (3.94%), compared with that of girls(9.56%) and rural students (6.70%) ( χ 2=5.35，4.86， P <0.05). In pharyngeal examination, tonsil hyperplasia was the most common condition of enlarged tonsils ( n =214), which was significantly higher in Jinan(22.36%) than that of Weifang (11.71 %) and Zibo (10.74%) ( χ 2=22.39， P <0.05), and was significantly lower in boys (14.38%) and rural students (12.40%) than that in girls (22.79%) and urban students (17.24%) ( χ 2=4.70，4.65， P <0.05).@*Conclusion@#Nasal septum deviation and tonsil hypertrophy are the most prevalent upper airway diseases among freshmen participating in the military college entrance examination. Prevention and treatment of nasopharynx diseases should be emphasized.

Public communication in the recovery process after the Fukushima Daiichi Nuclear Power Plant accident / 中国辐射卫生

The Fukushima Daiichi Nuclear Power Plant accident in Japan resulted in the release of large amounts of radioactive substances into the surrounding environment and caused contamination. In the accident recovery process, Japan had made great efforts in public communication, including the government’s promotion of organization and planning the popularization and publicity of scientific knowledge in various forms, multi-channel information disclosure, and all-round communication and exchange, which can provide a reference for the development of relevant work in China. The nuclear-related public communication work in China can get four enlightenments. Firstly, the public communication system should be improved, and corresponding policies and mechanisms should be clarified. Secondly the popularization of nuclear science knowledge should be taken as the foundation for early and long-term development. Thirdly, the operators of nuclear facilities shall disclose relevant information according to the law and confront the curiosity or doubts of the public. Finally, multi-channel, multi-level and multi-frequency exchanges and interactions should be conducted to seek unity of understanding and balance of interests between the two sides.

Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential variant in the proband. Candidate variant was verified by Sanger sequencing. The pathogenicity of candidate variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#The results of WES showed that the proband has harbored compound heterozygous variants of the DIS3L2 gene, namely c.2109delC and c.1829.c.1830insC, which were respectively inherited from her mother and father. The results were confirmed by Sanger sequencing. Based on the ACMG guidelines, the two novel variants were both predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The compound heterozygous variants of the DIS3L2 gene probably underlay the Perlman syndrome in this patient. Above finding has enriched the spectrum of DIS3L2 gene mutations.

Effects of traditional Chinese Songchi ointment combined with treadmill training on PI3K/Akt/mTOR signal pathway and inflammation in rats with disused muscles atrophy / 中华物理医学与康复杂志

Objective:To observe any effect of supplementing treadmill training with applications of the traditional Chinese Songchi ointment in the rehabilitation of gastrocnemius muscles atrophied through disuse.Methods:Forty-five Wistar rats were randomly divided into a normal control group ( n=8) and a model group ( n=37). The rats in the model group had their left hind limbs immobilized by the Nagai method to induce disused muscle atrophy (DMA). That group was then randomly subdivided into a model control (MC) group, a treadmill training group (the EX group), a Songchi ointment group (SC group) and a comprehensive rehabilitation group (the CR group), each of 8. The EX and SC groups were given treadmill training at 18m/min or topical application of Songchi ointment once a day, 6 days a week for 6 weeks. The CR group was given both treatments. After the 6 weeks, hematoxylin and eosin staining was used to evaluate the pathological changes in the gastrocnemius of each rat′s left hind limb. Serum levels of tumor necrosis factor α (TNF-α), interleukin-1β (IL-1β) and interleukin-10 (IL-10) were detected using enzyme-linked immunosorbent assays. PI3K, Akt and mTOR mRNA and protein were assayed using real-time quantitative PCR and western blotting. Results:The arrangement of muscle fibers in the MC group was disordered and there was a large number of infiltrated inflammatory cells. Such conditions were significantly relieved in the CR group. After the intervention the levels of inflammatory factors TNF-α and IL-1β in the CR group were, on average, significantly lower than those observed in the MC group, the EX group or the SC group, while the level of anti-inflammatory factor IL-10 was significantly higher. The average PI3K, Akt and mTOR mRNA and protein levels of group CR were significantly higher than those of the MC and EX groups.Conclusions:The traditional Chinese Songchi ointment can usefully supplement treadmill training to relieve DMA. It upregulates IL-10, activates the PI3K Akt/mTOR signaling pathway and promotes the synthesis of muscle fiber protein while down-regulating TNF-α and IL-1β and muscle fiber inflammatory response.