Objective:To report a case of Kufor-Rakeb syndrome caused by novel ATP13A2 mutation, collect the cases related to ATP13A2 gene mutation published in recent years, summarize the clinical manifestations of the disease, and broaden the clinical diagnostic thinking. Methods:The clinical manifestations of a newly diagnosed patient with Kufor-Rakeb syndrome caused by ATP13A2 gene mutation admitted to Zhongda Hospital, Southeast University on November 26, 2021, were summarized. The related cases of ATP13A2 mutation published from January 2000 to December 2021 were searched through the PubMed and CNKI databases using the keywords "ATP13A2" and "Parkinson′s disease". The onset age, clinical symptoms, family history, genetic testing, and levodopa responsiveness results of the patients were collected. Results:The patient is a 52-year-old female with the main clinical symptoms of static tremor and bradykinesia. Physical examination showed a gear like increase in muscle tension in the right upper limb, involuntary shaking of the right hand and slow movement. She had good responsiveness to levodopa, and the magnetic resonance imaging and susceptibility weighted imaging of the head showed a lack of clear observation of bilateral black matter swallowtail sign. Whole exome sequencing showed that mutations c.3010A>G (p.S1004G) and c.1195+5G>A (splice) were found in the ATP13A2 gene, both of which were not reported. The c.3010A>G (p.S1004G) mutation originated from the mother, and the c.1195+5G>A (splice) mutation originated from the father. In the retrospective literature review, a total of 10 cases were collected, with onset ages ranging from 18 months to 24 years. Among them, 4/10 patients′ parents married close relatives, and the clinical manifestations were mainly motor symptoms of Parkinson′s disease. In addition, 5/10 patients had cognitive dysfunction, and 3/10 patients had mental symptoms. And demonstrations of most patients′ magnetic resonance imaging were normal in the early stage of the disease, and as the disease progressed, some patients′ imaging results showed specific changes, such as whole brain atrophy and changes in the corpus callosum. Meanwhile, 8/10 patients showed good responsiveness to levodopa. Conclusions:Kufor-Rakeb syndrome is a special type of adolescent levodopa responsive Parkinson′s disease caused by ATP13A2 mutation, which is an autosomal recessive disorder. In addition to motor symptoms such as static tremor and bradykinesia, its clinical manifestations may also be accompanied by non motor symptoms such as cognitive and psychiatric disorders. The disease responds well to treatment with levodopa.

It was a cross-sectional study. Six myocardial infarction patients with non-obstructive coronary artery disease (MINOCA group) admitted to Shanghai Sixth People′s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from July 2021 to August 2022 were enrolled in the study and 78 healthy subjects were selected as control group. The patients and healthy controls were selected with 1∶1 propensity score matching according to age, gender, body mass index, occupation and marriage status; and 5 study subjects of each group were finally enrolled in the study. The general clinical data and magnetocardiographic (MCG) results were collected from the hospital′s electronic medical record system. Compared with control group, MINOCA group showed abnormal QR rotation, discrete changes in positive and negative magnetic poles in TT segment, and disordered current direction. The analysis of MCG data revealed 35 parameters with statistically significant difference between the two groups, involving TT interval, QRS complex, RS interval and QR interval. This study explored the magnetocardiographic characteristics of MINOCA, which suggest that MCG may be conducive for diagnosis of MINOCA in the future.

ObjectiveTo systematically compare the chemical compositional differences between Puerariae Thomsonii stem base（PTSB） and Puerariae Thomsonii Radix（PTR）， and to explore the potential hepatoprotective effects of PTSB by liver metabolomics. MethodUltra performance liquid chromatography-quadrupole-time-of-flight mass spectrometry（UPLC-Q-TOF-MS/MS） was used to analyze the chemical compositions of PTSB and PTR. Twenty Kunming mice aged 6-8 weeks， half male and half female， were randomly divided into the blank group（sterile water） and PTSB group（1.95 g·kg^-1）， with 10 mice in each group， and the drug was administered by gavage for 14 d， and the body mass was weighed once a day. After the last administration， mice were anesthetized， organs such as heart， liver， spleen， lungs and kidneys were collected， and the organ index was calculated. Enzyme-linked immunosorbent assay（ELISA） was used to measure the levels of aspartate aminotransferase（AST）， alanine aminotransferase（ALT）， total cholesterol（TC） and triglyceride（TG） in the serum of mice from each group， the morphological changes of heart， liver， spleen， lung and kidney tissues were observed by hematoxylin-eosin（HE） staining， and the regulation of PTSB for the hepatic metabolic profiles of mice was analyzed by UPLC-Q-TOF-MS/MS， then the differential metabolites between the blank group and PTSB group were designated， and the metabolic pathways was enriched by Kyoto Encyclopedia of Genes and Genomes（KEGG）. ResultA total of 19 common chemical constituents were identified from PTSB and PTR， all of which were the main pharmacodynamic substances of PTR. The pharmacodynamic results showed that PTSB could control the growth of body mass of mice and reduce the contents of TC， TG， ALT and AST in serum of mice. HE staining observations and organ indexes showed that there was no significant effect of PTSB on all major organs at the highest clinically equivalent dose. A total of 38 differential metabolites were identified by metabolomics， of which 35 were up-regulated and 3 were down-regulated. These differential metabolites were mainly compounds such as amino acids， fatty acids， vitamins， steroids， nucleosides， pyrimidines and alkaloids. Three key metabolic pathways， including tyrosine metabolism， vitamin B₆ metabolism and tryptophan metabolism， were screened by metabolic pathway analysis. ConclusionPTSB has a similar chemical composition to that of PTR， and it may regulate the metabolism of amino acids and vitamins through the flavonoids and isoflavonoids， thus exerting a potential hepatoprotective effect. This study provides an experimental reference for the clinical application and product development of PTSB.

ObjectiveBy comparing the composition and content changes of the volatile components in Atractylodis Rhizoma before and after processing with rice-washed water， the effect of rice-washed water processing on volatile components in Atractylodis Rhizoma was investigated. MethodHeadspace-gas chromatography-mass spectrometry （HS-GC-MS） was used to detect the volatile components in rhizomes of Atractylodes chinensis and A. lancea， and their processed products of rice-washed water. Chromatographic conditions were programmed temperature （starting temperature of 50 ℃ for 2 min， rising to 120 ℃ with the speed of 10 ℃·min^-1， then rising to 170 ℃ at 2.5 ℃·min^-1， and rising to 240 ℃ at 10 ℃·min^-1 for 3 min）， the inlet temperature was 280 ℃， the split ratio was 10∶1， and the solvent delay time was 3 min. The conditions of mass spectrometry were electron bombardment ionization （EI） with ionization temperature at 230 ℃ and detection range of m/z 20-650. Then the relative content of each component was determined by the peak area normalization method. SIMCA 14.1 software was used to perform unsupervised principal component analysis （PCA） and supervised orthogonal partial least squares-discriminant analysis （OPLS-DA） on each sample data， the differential components of Atractylodis Rhizoma and its processed products were screened by the principle of variable importance in the projection （VIP） value>1. ResultA total of 60 components were identified， among which 40 were rhizomes of A. chinensis and 38 were its processed products， 46 were rhizomes of A. lancea and 47 were its processed products. PCA and OPLS-DA showed that the 4 kinds of Atractylodis Rhizoma samples were clustered into one category respectively， indicating that the volatile components of the two kinds of Atractylodis Rhizoma were significantly changed after processing with rice-washed water， and there were also significant differences in the volatile components of rhizomes of A. lancea and A. chinensis. The compound composition of Atractylodis Rhizoma and its processed products was basically the same， but the content of the compounds was significantly different. The differential components were mainly concentrated in monoterpenoids and sesquiterpenoids， and the content of monoterpenoids mostly showed a decreasing trend. ConclusionAfter processing with rice-washed water， the contents of volatile components in rhizomes of A. lancea and A. chinensis are significantly changed， and pinene， 3-carene， p-cymene， ocimene， terpinolene， atractylon， acetic acid and furfural can be used as difference markers before and after processing.

【Objective】 To analyze the metagenomics and microbiology of voluntary blood donors in China, so as to assess the potential threats of emerging infectious diseases to the safety of blood transfusion. 【Methods】 12 300 plasma samples (10 mL each) collected by central blood stations in Chongqing, Liuzhou, Urumqi, Mianyang, Wuhan, Nanjing, Mudanjiang, and Dehong Prefecture area from 2012 to 2018 were subjected to total DNA extraction after ultracentrifugation (32 000 rpm/min, centrifugal radius 91.9 mm) in minipools of 160 donations. The metagenomic library was constructed, and deep sequencing was conducted by Illumina Hiseq 4 500. By comparing with reference sequences of bacteria, fungi, parasites and viruses, metagenomic data were analyzed, classification of microbes were identified, and potentially harmful pathogens were evaluated. 【Results】 A total of 632 GB clean data were obtained by deep sequencing, and the top three pathogens were Pseudomonas(0.561 1%), Burkholderia(0.468 7%) and Serratia(4.242 0%). Pathogens with potential threat which could be transmitted by blood transfusion or blood products were found, such as human parvovirus B19(0.126 6%), Leishmania spp(1.348 5%) and Toxoplasma gondii(0.615 8%). 【Conclusion】 Our study analyzed metagenomics of voluntary blood donors in parts of China and revealed pathogens that may cause potential harm to blood safety, which were helpful for targeted prevention and control of emerging infectious diseases.

Objective To analyze the infection of human parvovirus B19 among women of childbearing age in Xiangyang City, and to provide a reference for pregnant women's health care. Methods A total of 303 women of childbearing age in Xiangyang City from 2018 to 2019 were selected as the research subjects. B19 virus DNA in serum of the subjects was detected by nested PCR technology. The differences in the detection rate of B19 viral DNA among normal pregnancy, abnormal pregnancy, and infertility serum were statistically analyzed. The differences in the detection rate of B19 virus DNA among women of childbearing age at different ages were compared. Results The detection rate of B19 viral DNA in all 303 women of child-bearing age was 27.72%. The detection rate of B19 virus DNA in 26-35 year old women was higher than that in other age groups. The detection rate of B19 virus DNA in abnormal pregnancy group was significantly higher than that in normal pregnancy group (P <0.05). Conclusion The detection rate of B19 virus DNA in abnormal pregnancy and infertility group was significantly higher than that in normal pregnancy group, with the detection rate of B19 virus in 26-35 year old women of childbearing age being the highest among all age groups. It is necessary to strengthen the screening of B19 virus in pregnant women of childbearing age in this region to reduce its impact on fetal abortion.

Inactivation of the skeletal muscle chloride channel ClC-1 results in myotonia congenita (MC), which occur with mutations of CLCN1 gene. However, there is no clear correlation between genotype and phenotype. Clinical data of a patient and his parents with MC were collected retrospectively, including the symptoms and signs, results of blood tests, electromyography, MRI images, and examination results of biceps brachii pathology by histopathology. The patient was diagnosed according to nextgeneration sequencing. Sanger sequencing was then carried out on his parents’ blood samples to verify their mutations. The patient had typical clinical characteristics of Becker myotonia with compound heterozygous mutations of the CLCN1 gene, inherited from his mother (M560T), who showed only mild symptoms and cold induced myotonic motor unit potentials, and from an unaffected father (c.697- 2delA on the intron 5 resulting in exon 6 skipping). In view of the compound heterozygous mutations, he could be classified into Becker myotonia congenita. In conclusion, these results suggested that CLCN1 mutations could lead to atypical myotonic symptoms and abnormities on electromyography (EMG). EMG after muscle cooling test and exercise tests should be completed in the relatives of patients with MC and some patients with atypical syndrome.

Objective To investigate the relationship between total serum IgG concentration and tumor progression in patients with gastric cancer.Methods From January 2010 to May 2017,a total of 90 patients with gastric cancer in Sun Simiao Hospital of Beijing University of Chinese Medicine were enrolled as study subjects and 90 age-and-sex-matched adults from normal physical examination were enrolled as control subjects.The serum IgG subgroup and total IgG concentrations were measured by enzyme-linked immunosorbent assay.The relationships between serum IgG concentration in patients with gastric cancer and clinicopathologic features were analyzed.The numbers of plasma cells with CD138 antibody in both tumor and non-cancerous tissues were evaluated by immunohistochemistry.Results The total serum IgG concentration in patients with gastric cancer was significantly lower than that in healthy control group [(923.6±290.5) mg/dl vs.(1 072.5 ±298.6) mg/dl],with a significant difference (t =3.391,P =0.001).The total serum IgG and IgG1 concentrations were correlated with lymphatic metastasis (t =3.585,P ＜ 0.001;t =3.545,P ＜ 0.001) and gastric cancer stages (t =3.669,P ＜0.001;t =3.401,P ＜0.001).Furthermore,the CD138 + plasma cells in tumor tissues were significantly fewer than those in non-cancerous gastric mucosa (88.7 ± 31.9 vs.108.5 ± 33.4),with significant differences (t =2.778,P =0.007).Multivariate analysis suggested that total serum IgG concentration (HR =0.411,95％ CI:0.094-0.989,P =0.011) and lymph node metastasis (HR =3.148,95％ CI:1.988-5.297,P ＜ 0.001) were independent predictors for poor prognosis.Conclusion Decreased total serum IgG concentration is closely related to tumor progression and poor prognosis in patients with gastric cancer,which indicates that the impaired humoral immunity is associated with tumor progression.

Objective To investigate the potential of polylactic acid glycolic acid copolymer (PLGA) composite ordered multi tunnel collagen scaffold in fabricating a biomimetic artificial nerve graft to repair the sciatic nerve defects in rats.Methods The ordered multi tunnel collagen scaffold was prepared by vacuum freeze-drying and directional drawing method to simulate the epineurium;the outer conduit was prepared by PLGA to simulate the epineurium;and then,the ordered multi tunnel collagen scaffolds were loaded in the PLGA conduit (5∶1) under a stereomicroscope to develop a novel biomimetic artificial nerve.Sixty-four rats were randomly divided into four groups:artificial nerve group,PLGA group,peripheral nerve group,and non-graft control group (n=16);rats in the artificial nerve group,PLGA group,and peripheral nerve group were repaired with artificial nerve graft,hollow PLGA conduit and allogeneic sciatic nerve to bridge the sciatic nerve defect,while the sciatic nerve with the gap in rats of the control group was without any grafting.After 11 weeks of operation,the hind limbs of rats in each group were detected by behavioral test,electrophysiological examination and Fluoro-Gold retrograde tracing method.The changes of muscle tissues (gastrocnemius) were observed by hematoxylin staining and TMR-α-BTX staining,and the regenerated axons were observed by immunohistochemical staining with NF200 and the regenerative spinal anterior horn motor neurons were observed by Nissl fluorescence staining 12 weeks after operation.Results After 11 weeks of operation,the recoveries of the motor functions (the distance between the injured hindlimb and forelimb,the rotation angle of the injured foot) in the peripheral nerve group,artificial nerve group,PLGA group and control group were significantly deteriorated in turn,and the differences were statistically significant (P＜0.05).Electrophysiological examination showed that the recovery effect of peripheral nerve group was the best in both latency and amplitude of the compound muscle action potential,followed by artificial nerve group.The latency of PLGA group was the longest and the amplitude of compound action potential was the smallest;significant differences were noted between each two groups (P2＜0.05).At 12 weeks after operation,the wet weight ratio of muscle fibers,area of muscle fibers and neuromuscular junction area were significantly different between each two groups (P＜0.05);the degree of gastrocnemius atrophy in the artificial nerve group was significantly improved than that in the PLGA group,but not yet reached the level of peripheral nerve group.NF200 immunohistochemical staining showed that a large number of NF200-positive axons were seen in the grafts of the artificial nerve group,but the number was slightly smaller than that of the peripheral nerve group;the number of regenerated axons in the PLGA group was the smaller and mainly distributed near the proximal side.In the PLGA group,only (19.33 ±6.73)％ regenerated spinal anterior horn motor neurons were labeled with Fluoro-Gold,while the positive rates of Fluoro-Gold in the artificial nerve group and peripheral nerve group were (42.67±7.45)％ and (50.13±4.33)％;the differences between each two groups were statistically significant (P＜0.05).Conclusion The biomimetic artificial nerve made of PLGA conduit and ordered multi tunnel collagen scaffold can efficiently reconstruct the defected peripheral nerve with guiding axonal regeneration and promoting functional restoration in rats;however,its effect is poor than peripheral nerve grafting.

Objective:To detect the effect of microRNA-7 ( miR-7 ) knockdown on pathology in murine acute lung injury ( ALI) model,and preliminarily explore its significance.Methods:Murine ALI model was performed by intraperitoneal injection of Li-popolysaccharide (LPS) (10 mg/kg) into miR-7KD mice and wild-type (wild type,WT) mice respectively.Then,the pathologic injury of lung tissue were observed by HE staining.And total cell count of bronchoalveolarlavage(BAL) was calculated.The relative expression of related cytokines in lung tissue was analyzed by Real-time PCR assay.Furthermore,the changes on proportion of innate immune cells (γδT cell and F4/80 macrophages cell) and adaptive immune cell ( CD4+T cell and CD8+T cell) were analyzed by FACS.Meanwhile, the expression of CD62L and CD69,as well as the absolute number,in CD4+T cell were also analyzed.Results: Compared with WT mice,pathological damage in lung tissues was significantly alleviated in miR-7KD mice.Real-time PCR analysis showed that the relative expression of IL-6 was obviously reduced (P<0.01),conversely,relative expression of IL-4 and TGF-βwere obviously increased (P<0.05).Furthermore,the total cell number in BAL also reduced significantly (P<0.05).Importantly,FACS analysis showed that the proportion and the absolute number of F4/80+Mφcells obviously reduced (P<0.05);however,the proportion of γδT cells increased (P<0.05).Moreover,the proportion and the absolute number of CD4+T cells and CD8+T cells were significantly reduced (P<0.05). Finally, the proportion and the absolute number of CD62L+in CD4+T cells were upregulated vigorously,contrastly,the proportion and the absolute number of CD69+in CD4+T cells were notably up-regulated (P<0.05).Conclusion:miR-7 defeciency could significantly ameliorate the pathology of murine ALI,suggesting that it may play an important regulatory role in the development of ALI.