Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

Aim To explore the mechanism of Huoxue Rongluo reeipe in promoting angiogenesis after ischemic stroke based on the correlation between mir-370-3p and JAK2/STAT3 pathway.Methods Hats were randomly divided into six groups.MCAO/R method was used to establish the model.After seven days of intragastrie administration,the expressions of CD31 ,vWF and vascular endothelial growth factor ( VEGF) in brain tissue were observed by immunofluorescence stai- ning; the expression of JAK2 ,p-jak2,STAT3 and p- STAT3 in brain tissue was detected by Western blot; J the expressions of JAK2,STAT3 mRNA and mir-370- 3p in brain tissue were detected by real-time PCR f RT-PCR) ; the correlation between mir-370-3p and JAK2/STAT3 pathway was analyzed by Pearson correlation ; the expressions of lncma-hl9 and mir-370-3p were detected by real-time quantitative PCR ( RT qPCR) ; the targeting relationship between lncrna-hl9 and mir-370-3p was detected by luciferase reporter assay.Results Huoxue Rongluo decoction could increase the microvessel density and average fluorescence intensity of VEGF,up-regulate JAK2 and STAT3 mR- NA,down-regulate the expression of mir-37()-3p,and promote the expressions of JAK2,p-jak2 ,STAT3 and p- STAT3.Mir-370-3p was highly negatively correlated with JAK2 and STAT3 mRNA respectively,which could be reversed by stattic,an inhibitor of STAT3 SH2 domain.Conclusions Huoxue Rongluo recipe may stimulate angiogenesis after ischemic stroke by down- regulating the expression of mir-370-3p,activating JAK2 / STAT3 pathway and promoting the expression of downstream VEGF,so as to improve the symptoms of neurolo.

Soybean mosaic virus (SMV) is a critical pathogen that reduces the soybean yield and seed quality worldwide, and SMV has a restricted natural host range. In this study, we used sequence-independent amplification (SIA) methods to identify the viruses that may cause the Atractylodes macrocephala Koidz disease. Results revealed that there is SMV in diseased Atractylodes macrocephala leaves, and we named this isolate as SMV-Am. To further characterize the genomic structural and phylogenetic relationships of SMV-Am, genomic dsRNA was extracted, and the genomic sequence was amplified by RT-PCR and RACE. The results of bioinformatics analysis showed that the genomic RNA of SMV-Am is 9587 nucleotides in length, which conforms to the typical characteristics of Potyvirus. According to the sequence alignment of complete nucleotide sequences, SMV-Am showed the highest level of nucleotide homology and amino acid sequences to SMV-Liaoning, 96. 57% and 98. 86%, respectively. In addition, phylogenetic analysis based on the nucleotide sequences of other SMV isolates of SMV-Am revealed that SMV-Am was most closely related to SMV-Liaoning. Then, the SMV-Am protein was further analyzed by I-TASSER and PyMOL software, revealing that the key amino acid mutations led to the structural changes of P1, HC-Pro, P3, 6K2, NIa-pro and NIb proteins, with P1 the most obvious. Finally, recombination has been detected at the position of 6560-8950 nucleotides, the main parent is the isolate SMV-XFQ012 (accession number KP710875. 1), and the secondary parent is isolate SMV-pCB301-SC15 (accession number MH919386. 1). This study is the first report of SMV in Atractylodes macrocephala Koidz, and these results are expected to provide a scientific basis for the prevention and control of SMV infection on Atractylodes macrocephala Koidz.

Zucchini yellow mosaic virus (ZYMV) is a destructive cucurbit virus that causes extensive losses in the yield and quality of cucurbits (e.g., zucchini). At present, the analysis of genetic evolution of ZYMV is mainly based on CP sequence, and there has been little progress in addressing its phylogenetic relationships and evolution at the whole genome level. In this study, the whole genome sequences of ZYMV isolated from Shanxi Wenshui (ZYMV-WS) and 109 other reported ZYMV isolates were used to explore their phylogenetic relationships. The results showed that ZYMV-WS had the highest level of nucleotide homology (94.35%) to ZYMV-SXSG, and the amino acid sequences of ZYMV-BR3 were identical (97.37%) to those of ZYMV-WS. In addition, the phylogenetic analysis of ZYMV revealed that all the isolates were clustered into two major branches, and its population structure assessment demonstrated a marked genetic differentiation between A4 and B. Furthermore, we also discovered the sites of specific amino-acid alteration, and their possible association with functional changes. These results will help to better understand the genetic diversity and phylogenetic process of ZYMV, and lay a theoretical foundation for the effective prevention and control of ZYMV infection in the near future.

Puerarin has the anti-Alzheimer's disease (AD) activity,which can reverse nerve injury induced by Aβand inhibit neuronal apoptosis.However,its potential pharmacodynamic mechanism still needs to be further researched.The occurrence and development of AD is due to the change of multiple metabolic links in the body,which leads to the destruction of balance.Puerarin may act on multiple targets and multiple metabolic processes to achieve therapeutic purposes.Quantitative proteomic analysis provides a new choice to understand the mechanism as completely as possible.This research adopted SH-SY5Y cells induced by Aβ_(1-42)to establish AD cell model,and Aβimmunofluorescence detection showed that Aβdecreased significantly after puerarin intervention.The mechanism of puerarin reversing SH-SY5Y cell injured by Aβ_(1-42)was further explored by using label-free non-labeled quantitative technology and Western blot detection based on bioinformatics analysis result.The results showed that most of the differential proteins were related to biological processes such as cellular component organization or biogenesis,cellular component organization and cellular component biogenesis,and they mainly participated in the top ten pathways of P value such as pathogenic Escherichia coli infection,m TOR signaling pathway,regulation of autophagy,regulation of actin cytoskeleton,spliceosome,hepatocellular carcinoma,tight junction,non-small cell lung cancer,apoptosis and gap junction.Annexin V/PI flow cytometry and TUNEL were used to detect apoptosis,and the results showed that Aβdecreased significantly and the rate of apoptosis decreased significantly after puerarin intervention.Western blot analysis found that the protein expression level of autophagy related protein LC3Ⅱwas up-regulated after Aβinduction,and the degree of this up-regulation was further enhanced in puerarin intervention group.The trend of the ratio of LC3Ⅱ/LC3Ⅰamong groups was the same as the protein expression level of LC3Ⅱ，the protein expression level of p62 in the control group,AD model group and puerarin intervention group decreased successively.Protein interaction network analysis showed that CAP1 was correlated with TUBA1B,HSP90AB2P,DNM1L,TUBA1A and ERK1/2,and the correlation between CAP1 and ERK1/2 was the highest among them.Western blot showed that the expressions of p-ERK1/2,Bax and CAP1 were significantly down-regulated and the protein expression level of Bcl-2 was significantly up-regulated after puerarin intervention.Therefore,puerarin might improve the SH-SY5Y cells injured by Aβ_(1-42)through the interaction of multiple biological processes and pathways in cells multiple locations,and CAP1 might play an important role among them.
Amyloid beta-Peptides ; Apoptosis ; Carcinoma, Non-Small-Cell Lung ; Cell Line, Tumor ; Humans ; Isoflavones/pharmacology* ; Lung Neoplasms ; Proteomics

Objective:To establish the framework of physical activity and rehabilitation for the elderly, and systematically review the health and rehabilitation effects of physical activity for the elderly, based on the relevant important documents of World Health Organization (WHO). Methods:The literatures about physical activities and health, quality of life for the older adults were retrieved with subject retrieval method, from the database of CNKI, Wanfang Data, PubMed and Web of Science, EBSCO, Google Scholar until June 30, 2021. This paper reviewed the rehabilitation effects of physical activities on health, quality of life and well-being of older adults through extracting the literature content. Results:There were five typical physical activities: aerobic activity, muscle and bone development activities, improving balance activities and comprehensive activities. The effect of the elderly participating in physical activities on health and rehabilitation was mainly reflected in the improvement of physical and mental health, social adaptation and activity behavior and nutrition. Health and rehabilitation impacts were mainly reflected in increased healthy life expectancy, improved quality of life and well-being. In terms of improving physical health, it can promote physical fitness, chronic diseases and physical function for the aging people. In terms of improving mental health, cognitive function, mood, personality traits and sleep can be promoted. The elderly participating in physical activities was mainly influenced by both personal and environmental factors. Conclusion:Participation in all physical activity by older adults provides health benefits, promoting healthy ageing, improving physical and mental health, facilitating social adjustment and activity behaviors and nutrition and then increasing healthy lifespan, quality of life and well-being. Physical activity is a health-related service, so scientific and reasonable physical activity of the elderly should be enhanced. It is necessary to combine physical activity with rehabilitation services to promote the health, function, well-being and quality of life of the elderly.

Objective:To systematically review and develop the categories in the fields of recreational physical activities and rehabilitation exercise for adults based on the concept and method of the International Classification of Functioning, Disability and Health (ICF). Method:The literatures about recreational or leisure time physical activities and mental health for adults were retrieved with subject retrieval method, from the database of PubMed, Web of Science, CNKI and Wanfang Data, until June 30, 2021. The effects of leisure physical activities on mental health, quality of life and well-being of adults were extracted. Results:A total of 1856 literatures were returned, and 24 out of them were enrolled, which were published mainly from the journals of medicine, public health, exercise and rehabilitation. The researches mainly used questionnaire survey, interview and measurement methods. The types of physical activities involved were leisure time physical activities, leisure time recreational activities, non-leisure time physical activities and non-leisure time recreational activities. According to the framework of ICF, the effects of leisure time physical activities and recreational physical activities on mental health of adults were mainly reflected in body functions, including bl mental function, b152 emotion function, b140 attention function, b144 memory function, b163 basic cognition function, b126 temperament and personality function, b134 sleep function, b130 energy and drive function, b122 overall psychology and society function, b180 self-experience and time experience function, b139 other general mental functions specified and not specified; and activities and participation, including d6 family life, d7 interpersonal communication and interpersonal relationship, d8 main area of life, and d9 community, social and civic life; in terms of burnout, depression, anxiety, perceived stress, risk of depression, attention fatigue, life vigor, self-esteem, positive and negative emotions, mental disorders, insomnia, subjective well-being, life satisfaction and quality of life, etc. Leisure time physical activities and recreational physical activities might improve health-related quality of life and well-being. Some environmental and personal factors might affect the participation and performance in leisure time and recreational physical activities for the adult, including e3 support and interpersonal relationships, e4 attitude, e5 service system and policy, in terms of workload, positive emotion, social support, emotional support, etc. Conclusion:Adults can benefit from leisure time physical activities and recreational physical activities for promoting mental health, quality of life and well-being. These activities are beneficial to emotion, cognition, sleep, happiness, satisfaction and quality of life, etc. It is critical for rehabilitation to integrate leisure time and recreational physical activities into health care, recreation and relaxation, physical and mental health. And it is effective to expand mental health care to improve quality of life and well-being and achieve the United Nations 2030 Sustainable Development Goal 3: Good Healthy and Well-being.

Objective:To systematically review and develop the categories in the fields of recreational physical activities and rehabilitation exercise for the children and youth with disabilities based on the theory and method of International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY). Methods:The literatures about physical activities and rehabilitation exercise for children and youth with disabilities were retrieved with subject retrieval method, from the database of CNKl, Wanfang Data, PubMed and Web of Science, until December 31st, 2020. The authors, countries, published time, published journals, research objectives, object of the study and their ages, data collection tool, and the key findings were extracted. Results:A total of 1920 literatures were returned, and 26 of them were enrolled, which were published in eleven countries, and mainly from the journals of medicine, public health, exercise and rehabilitation for people with disabilities, and mainly published after 2010. The researches mainly used questionnaire survey, experimentation and measurement methods. There were three typical recreational physical activities: physical fitness activities, skills activities and sports activities, mainly including physical activities in daily life, recreational and leisure activities, sports activities, school physical education courses and rehabilitation training, etc. According to the framework of ICF-CY, physical activities might promote functional recovery for children and youth with disabilities, in b body functions, including bl mental function; b2 sensory function and pain; b4 cardiovascular, blood, the function of the immune system and respiratory system; b5 digestion, metabolism and function of the endocrine system; and b7 nerve musculoskeletal function related to movement; and d activities and participation, including d2 the general tasks and requirements; d4 activity; d5 self-care; d6 family life; d7 interpersonal communication and interpersonal relationship; d8 main area of life and d9 community, social and civic life. The evidences showed benefits of improvement in the fields of gross motor function, muscle strength, balance coordination, walking, running, dexterity and functioning of hand, cardio-respiratory fitness, body composition, and pain relief. Further more, there were gains at improvement of the quality of life, well-being, social support and self-efficacy, taking an active part in all kinds of leisure activities and physical activity, increasing the range of activities, etc. The environmental and personal factors might affect the participation and performance in physical activities for children and youth, including e1 products and technologies, e2 natural environment and man-made changes to the environment, e3 support and interpersonal relationships, e4 attitude, e5 service system and policy, including physical and built environment, assistive technology, activity facilities, transportation, physical accessibility and availability of community leisure and recreational activities, athletic ability, orientation of family activities, family environment, etc. Conclusion:The physical activities may promote the recovery of body function, and activities and participation for children and youth with disabilities. The environmental and personal factors may affect the participation and performance in physical activities.

Objective:To review the categories of physical activities and rehabilitation exercise for aging people based on the theory and method of the International Classification of Functioning, Disability, and Health (ICF). Methods:From the framework and coding of ICF, physical activities, rehabilitation exercise and functional improvement for the aging people were reviewed. Results:There were three typical physical activities: physical fitness, skills and sports, mainly including regular exercises, cognitive amusements, leisure sports activities, recreational sports activities, rehabilitation exercises, etc. Physical activities promoted the functioning of the aging people, including mental function (b1), pain and sensory dysfunction (b2), cardiovascular, blood, the function of the immune system and respiratory system (b4), digestion, metabolism and function of the endocrine system (b5), nerve musculoskeletal function related to movement (b7), the function of skin and related structures (b8), activity (d4), and community, social and civic life (d9), etc., especially body mass index, cardiovascular, physical fitness (muscular strength and endurance, aerobic endurance), balance, flexibility, upper and lower extremities strength, sleep, metabolic capability, cognitive function and anti-aging ability. There were more gains at individual levels, including promotion of subjective happiness, quality of life, reducing depression, risk of sarcopenia, dementia and falling, etc. The environmental and personal factors related to activity and participation in physical activities included the products and technologies (e1), natural environment and man-made changes to the environment (e3), support and interpersonal relationships (e3), attitude, service system and policy (e5), such as urban environment, building environment, street pavement behavior, weather, caregivers, accompany of family and friends, etc. Conclusion:The physical activities and rehabilitation exercise the aged joined include physical fitness activities, skills activities, and sports activities. The physical activities had effects on the rehabilitation of the aged including the function of the body(mental function, pain and sensory dysfunction, cardiovascular, blood, the function of the immune system and respiratory system, digestion, metabolism, and function of the endocrine system, nerve musculoskeletal function related to movement, the function of skin and related structures) and the participation in activities (activities, community, society and civic life). The function of the body works for the health of the aged to promote physical health, mental health, functional health, social adjustment and social well-being.

Cerebral infarction is a clinical disease with corresponding neurological symptoms caused by cerebral ischemia and hypoxia caused by cerebral blood supply disorder. It is one of the most common cerebrovascular diseases and a serious threat to human health. The prevention and treatment of cerebral infarction has an important social significance. Angiogenesis is the key starting point for medical treatment of cerebral infarction, and signal transduction and transcriptional activators (STAT)/hypoxia inducing factor-1(HIF-1)/vascular endothelial growth factor (VEGF) pathway are important pathways to mediate angiogenesis after cerebral infarction. This paper took the angiogenesis as the starting point and the upstream molecules of STAT/HIF-1/VEGF signal pathway STAT3 and miRNA as the main study objects, and comprehensively discussed the results of chip sequencing, experimental research, traditional Chinese medicine (TCM) pathogenesis and TCM treatment. Based on the regulatory mode of "TF-miRNA" and the idea of "micro-whole", it is suggested that under the guidance of the basic theory of TCM, cubic compound prescriptions of TCM and its active components might activate the STAT/HIF-1/VEGF signal pathway through STAT3/miRNA feedback loop to promote angiogenesis after cerebral infarction, which puts forward a deep molecular mechanism and new direction for the treatment of cerebral infarction with TCM.