Deficiencies In China Research Articles

Application of Ubiquitous Power Internet of Things and IPv6 Technology in Wireless Access Terminal and Intelligent Meter Reading Application

Power is the basis of the development of enterprises and even the country. In recent years, the demand for power in China is increasing. Wireless access terminals and intelligent meter reading have been widely used in the field of electric power. But at the same time, there are still many deficiencies in China’s power grid. Therefore, this paper puts forward the research of ubiquitous power Internet of things and IPv6 Technology in wireless access terminal and intelligent meter reading application. In this paper, the current types of distribution network are investigated, and the shortcomings of the current power grid are analyzed. In view of the existing power grid operation in China, this paper deeply studies the prospect of ubiquitous power Internet of things and IPv6 Technology in wireless access terminal and intelligent meter reading application, as well as the unique advantages of ubiquitous power Internet of things and IPv6 Technology in power grid. Through the relevant investigation, it can be seen that the service level, operation level, ecological environment construction and data sharing of the enterprise have been greatly improved after using ubiquitous power Internet of things and IPv6 technology. In addition, the power network structure has the advantages of simplifying network, reducing parameter setting, reducing communication flow and enhancing real-time data transmission. At the end of the study, this paper analyzes the key technology of ubiquitous power Internet of things in wireless access terminal and intelligent meter reading application, and puts forward a new research direction for the full application of the technology.

Construction of Cross-border International Commercial Mediation Mechanism Based on Blockchain Technology

With the development of economic globalization, international commercial disputes are increasing day by day, and international commercial mediation has gradually become an important part of the dispute resolution mechanism. At the same time, digital currency, which relies on blockchain technology, has brought unprecedented changes to international commercial exchanges and has been applied in many fields of international commercial affairs. However, there are difficulties in the application of blockchain in international commerce. At present, there is no relevant law to regulate the judicial use of blockchain, which brings risks to CNC security and personal privacy protection. Based on this, this paper aims to study the construction of a cross-border international commercial mediation mechanism based on blockchain technology. First, it analyzes the characteristics of blockchain and international commercial mediation and the advantages of international commercial mediation. Then, through a questionnaire survey of law students from three universities, the deficiencies of China’s International Commercial Mediation mechanism and the difficulties in the application of blockchain in International Commercial Mediation are understood. Finally, according to the survey results, suggestions on the construction of cross-border International Commercial Mediation mechanism based on blockchain technology are put forward. The investigation results show that the application of blockchain in international commercial mediation faces many legal problems, and current international commercial mediation lacks a unified law to regulate the use of blockchain, which will cause some complexity in the application of laws, jurisdiction, and other issues.

Analysis on China’s Export Brand Strategy

The development of the Internet era has brought about a globally integrated economic and trade system, which has enabled the economies of many countries to develop by leaps and bounds. Of course, under such an economic system, China’s economy has also benefited a lot. However, compared with other countries, China’s has many shortcomings in brand building. Although China’s is the world’s largest country in terms of exports, most of these exports are based on cheap labor costs and low-tech content, while the exports of branded products only account for a small part. This paper analyzes the current problems and deficiencies of China’s exports in brand and brand strategy by studying the competitiveness of Chinese export brands in the international market, and analyzes the solutions to these existing or possible problems.

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene\u2014a case report

BackgroundHereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually present with cobalamin deficiency without gastroscopy abnormality and intrinsic factor antibodies.Case presentationA Chinese patient presented with recurrent severe anemia since age 2 with low cobalamin level and a mild elevation of indirect bilirubin. The hemoglobin level normalized each time after intramuscular vitamin B12 injection. Gene test verified a c.776delA frame shift mutation in exon 6 combined with c.585C > A nonsense early termination mutation in exon 5 of GIF which result in the dysfunction of gastric intrinsic factor protein. The hereditary intrinsic factor deficiency in literature was further reviewed and the ancestry of different mutation sites were discussed.ConclusionsA novel compound heterozygous mutation of GIF in a Chinese patient of hereditary intrinsic factor deficiency was reported. It was the first identified mutation of GIF in East-Asia and may indicate a new ancestry.

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype\u2013phenotype association throughout an activity distribution

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common hereditary disorder in China. The existing prevalence and molecular epidemiology of G6PD deficiency in China were geographically limited. In this study, the spectrum of G6PD gene mutations was well characterized in a large and diverse population all over the country; and the correlation of genotype and enzyme activity phenotype was explored for the first time. The results showed that the overall prevalence of G6PD deficiency in China was 2.10% at the national level. The top six common mutations were c.1388 G>A, c.1376 G>T, c.95 A>G, c.392 G>T, c.871 G>A and c.1024 C>T, accounting for more than 90% of G6PD deficient alleles. Compound mutation patterns were frequently observed in females with severe deficiency. The distribution of G6PD activities depended on the type of mutation patterns and genders. Hemizygote, homozygote, and compound heterozygote were predominantly associated with severe G6PD deficiency, whereas heterozygotes with single mutation mainly presented moderate enzyme deficiency. A significant gap between G6PD activities in hemizygous and normal males was observed, and yet, the overall distribution of that in females carrying missense mutations was a continuum from G6PD severely deficient to normal. This is the first report of discussing the association between G6PD genetic variants in the Chinese and enzyme activity phenotypes.

On the Criminal Law Protection of the Marine Ecological Environment

With the continuous and rapid development of the country's economy and society, it has greatly promoted the leap of the marine economy and brought more severe challenges and tests to the protection of marine ecological environment. How to effectively measure the criminal law protection of the marine ecological environment and take effective measures Measures to deepen the effects of marine ecological environmental protection have become one of the focus topics of widespread concern in the industry. Based on this, this article first introduces the protection of marine ecological interests in China's criminal law, analyzes the necessity of adjusting the ecological environment in criminal law, and discusses the deficiencies in China's marine legal system and combines relevant practical experience to improve the marine environment. Various angles and aspects, such as laws and regulations related to resource crimes, put forward the basic approach to strengthen the criminal law protection of the marine ecological environment, and hope to help the practice of related work.

Association between variants in vitamin D-binding protein gene and vitamin D deficiency among pregnant women in china.

BackgroundThe prevalence of vitamin D deficiency and insufficiency is extremely high in pregnant women worldwide. However, the association between single nucleotide polymorphisms (SNPs) in vitamin D metabolic pathway genes and 25‐hydroxyvitamin D (25(OH)D) concentration among Chinese pregnant women is seldom reported. The risk of adverse neonatal outcomes due to maternal vitamin D deficiency has not been well investigated.MethodsA total of 815 pregnant women and 407 infants were enrolled in this study. Serum 25(OH)D concentration was detected. DNA was extracted from the maternal blood for genotyping genetic SNPs in vitamin D pathway. An XGBoost model was established based on SNPs combined with external variables.ResultsMean serum 25(OH)D level was 15.67 ± 7.98 ng/mL among the pregnant women. Seventy‐five percent of pregnant women had 25(OH)D deficiency in China. SNPs of GC (rs17467825, rs4588, rs2282679, rs2298850, and rs1155563) were significantly associated with maternal 25(OH)D concentration. The influence of variants of rs17467825, rs4588, rs2282679, and rs2298850 on maternal 25(OH)D might be modified by vitamin D supplementation and sunshine exposure. An XGBoost model was established for monitoring 25(OH)D status in pregnant women and provided clinical advice to reduce the risk of 25(OH)D deficiency. Mothers with 25(OH)D deficiency hinted a risk for macrosomia.ConclusionA high prevalence of vitamin D deficiency in China has been confirmed. A clinical model was established to guide pregnant women to supplement vitamin D according to genotype. Furthermore, we suggest the effect of maternal vitamin D status on the risk of macrosomia.

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.

Background A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. Methods We analyzed 25 patients with 5α-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from female to male after puberty. Results Eighteen mutations were identified in these patients. p.Gly203Ser and p.Gln6∗ were found to be the most prevalent mutations. On the basis of the genotype of these patients, we divided them into different groups. There was no significant difference in hormone levels and external masculinization score (EMS) in patients with or without these prevalent mutations. Twelve common single-nucleotide polymorphisms (SNPs) near the p.Gln6∗ mutation were chosen for haplotype analysis. Three haplotypes were observed in 6 patients who had the p.Gln6∗ mutation (12 alleles). Conclusion We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population.

Thoughts and suggestions on modern construction of disease prevention and control system

The critical period for the prevention and control of COVID-19 in China, in response to requirements for accelerating the modernization of the disease prevention and control system, we analyzed and summarized the current situation, existing problems, and deficiencies in China's modernization of disease prevention and control system. In addition, we put forward the contents and countermeasures for the modernization of the disease prevention and control system. The modernization of the disease prevention and control system should be built around governance modernization, talent modernization, equipment modernization, scientific research modernization, and modernization of the regulatory system. The countermeasures and suggestions need to reposition the disease prevention and control system, rationalize the management system and operating mechanism, strengthen the modernization of talents and equipment, strengthen scientific research on disease prevention and control, and further improve the disease prevention and control legal system.

Residual effects of soil Zn fertilization on soil characteristics, yield and quality of Platycodon grandiflorum

ABSTRACT Zinc (Zn) deficiency is common worldwide and is a major limiting factor in the cultivation of Platycodon grandiflorum because most P. grandiflorum is cultivated on soils with slight or severe levels of Zn deficiency in China. To investigate the effects of soil Zn fertilization on P. grandiflorum and its residual effects on soil characteristics, a randomized complete block design was conducted at the experimental station of Shandong Agricultural University China in 2016–2018. In 2016, ZnSO4 · 7H2O was used as Zn fertilizer. The fertilizer levels of Zn fertilizer were designed as 0, 4, 6, 8 and 10 kg ha−1 and were denoted as CK, Zn4, Zn6, Zn8 and Zn10. No Zn fertilizer was used in 2017 and 2018. The results showed that soil Zn fertilization increased the quantity of soil bacteria, and actinobacteria, Zn8 and Zn10 treatments increased the soil fungal quantity in 2017, whereas the effect was observed only in the Z10 treatment in 2018. Soil Zn fertilization enhanced the activity of polyphenol oxidase, decreased that of phosphatase, and did not influence the invertase activity in both 2017 and 2018. Both the yield and the quality of P. grandiflorum in the succeeding three years increased due to the soil Zn fertilization in 2016. Overall, soil Zn application is a suitable approach to the cultivation of P. grandiflorum, and the residual effects of a one-time soil Zn fertilization could last at least two years.

The quantitative analysis of difference between Chinese and German libraries subject services

PurposeThe purpose of this paper is to study the difference of subject service between Chinese and German libraries. Subject service is the key direction of user-oriented service in libraries at home and abroad, especially in university libraries. It is an innovative measure to provide service for teaching, learning and research in libraries under the information environment. Subject service has strong practicality, and with the increasing demand of users and the continuous change of external information environment, the service content and mode are gradually improved.Design/methodology/approachBy investigating the selected websites of University Libraries between China and Germany, the specific practice status of subject services between these two countries was known, and the study provided a basis for the comparative analysis of the practice status of subject services between China and Germany. By using the elastic analysis model, the library services in foreign countries and China can be quantitatively analyzed to find out the matching situation between resources and reader’s needs, and then formulate the countermeasures for the allocation of literature resources. In this way, readers can find out the hotspot topics which are more in line with their needs, as well as in the field of inquiry. It is also helpful for readers to further study and analyze the knowledge background and subject distribution in this field.FindingsThe results show that there are still some deficiencies in China’s participation in international scientific research cooperation. By mapping high-frequency keyword co-occurrence network and clustering knowledge map, it is seen that there are differences in user research, information search, subject service platform and other aspects between Chinese and German library subject services. There are also some gaps in such aspects as location, disciplines service website revealing mode, resources support, disciplines service platform and so on.Research limitations/implicationsAlthough this study compares the status of scientific research and practice of discipline services between China and Germany, due to the limited capacity, the paper only selects a number of key points for comparative analysis of discipline services at home and abroad. Due to the limited range of data collected by WOS and Chinese Social Sciences Index, there are some deviations in data processing in the software used, which makes the theoretical research and comparison results have certain limitations.Practical implicationsBy investigating and analyzing the current situation of subject service in university libraries between China and Germany, this paper points out the shortcomings of subject service in university libraries in China on the basis of comparative analysis and draws on the advanced experience of German subject service to provide guidance for improving the problems in subject service in China.Originality/valueThe innovation of this study lies in the comparative analysis of Chinese and German subject services from the perspective of subject service research and work practice and puts forward some strategies to improve the development of domestic subject services. At present, there are few domestic literatures comparing the research status of subject services between China and Germany by using visualization method. This study quantitatively compares the time distribution, knowledge evolution direction, research hotspots and topics of subject services at home and abroad by using visualization technology and summarizes the evolution direction of subject services between China and Germany.

Research progress in activation of phosphorus containing substances and remediation of heavy metal pollution in soil

The phenomenon of soil phosphorus deficiency in China is very serious, which limits the agricultural production in China. Low molecular weight organic acids and phosphorus solubilizing microorganisms are widely distributed in the soil, and can be used as activators to improve the content of phosphorus in the soil. With the rapid development of industry and agriculture in China, heavy metal pollution in the environment is becoming more and more serious. China is rich in phosphate rock resources, but the grade of phosphate rock is low and the utilization efficiency is not high. Using phosphate rock to deal with heavy metal pollution has been favored by environmental scholars. This paper analyzes the main composition and application of phosphate rock in China, the activation of phosphate rock powder, the remediation effect and mechanism of phosphate rock powder and activated phosphate rock powder on heavy metals in soil, providing theoretical basis for the scientific utilization of low-grade phosphate rock and the treatment of heavy metal pollution.

Metabolomic study of raw and bran-fried Atractylodis Rhizoma on rats with spleen deficiency

Atractylodis Rhizoma, a classical Chinese medicine, exhibits unambiguous therapeutic effect on spleen deficiency in China for decades. The aim of the present study was to explore the different effects on the composition and level of endogenous metabolites in rats with spleen deficiency after oral administration of raw and bran-fired Atractylodis Rhizoma, and to explain the mechanism of pharmacodynamic enhancement of the bran-fried Atractylodis Rhizoma from the perspective of metabolomics. With this purpose, spleen deficiency model was established by diet, excessive fatigue and bitter cold diarrhea. Then, Enzyme-linked immunosorbent assay (ELISA) was used to determine the contents of vasoactive intestinal peptide (VIP), Somatostatin (SS), substance P (SP) and succinodehydrogenase (SDH) in rats of each group, and to compare the contents of VIP, SS, SP and SDH among groups. UHPLC-Q-TOF-MS based metabolomics was adopted to analyze the plasma from spleen deficiency rats and control rats. Principle component analysis (PCA) and orthogonal partial least squares-discriminant analysis (OPLS-DA) were utilized to identify differences of metabolic profiles in rats among the control group and the model group；The OPLS-DA were used to analyze the effects of raw and bran-fried Atractylodis Rhizoma on the same metabolites. The results showed that compared with the control group, the contents of VIP, SS, SP and SDH in the plasma of model group decreased, which proved the success of the model group. Compared with model group, the contents of VIP, SS, SP and SDH in the plasma of raw and bran-fried Atractylodis Rhizoma increased, and the effect of bran-fried Atractylodis Rhizoma was better than that of raw Atractylodis Rhizoma. Metabolomics results showed that seventeen different metabolites of spleen deficiency were screened out in the plasma of rats with spleen deficiency compared with the control group. Among them, Nicotinic acid, Dihydrofolic acid, Pantetheine 4′-phosphate and Photophatidylcholine (PC) were the metabolites significantly associated with spleen deficiency, and bran-fried Atractylodis Rhizoma had better intervention and regulation. Through the analysis of metabolic pathways related to these different metabolites of spleen deficiency, and primarily involved in glucosamine metabolism, one carbon pool by folate and so on. This study showed that Atractylodis Rhizoma could provide satisfactory therapeutic effects on spleen deficiency and metabolomics study can be utilized to further understand the molecular mechanisms.

Deficiencies in China’s Island Development Processes Compared with Other Countries

ABSTRACT Islands help maintain balance in the marine environment and develop the marine economy. They are strategic frontiers that safeguard maritime interests and national security. To address difficulties in developing inhabited islands, this study summarizes literature on island development processes in China and successful foreign experiences. We find three main deficiencies in China’s island development processes: lack of well-defined development models, absence of focused legislation for different types of island economies, and lack of departmental coordination. To address these deficiencies, we recommend including island development in China’s national strategy, formulating management plans and effective policies for rational island development, promoting the growth of bay area economies, and encouraging participation of diverse capital sources.

Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.

CD40 ligand (CD40L) deficiency is a rare but life-threatening primary immunodeficiency caused by mutations in the CD40L gene. Here, we investigated a cohort of 40 genetically diagnosed CD40L-deficient patients from the Chinese mainland, analysed their clinical and genetic data, and examined CD40L expression, the proportion of T cell subsets, B cell subsets and T follicular helper (Tfh) cells. The aim was to provide a complete picture of CD40L deficiency. Initial presentations of the patient cohort mainly involved recurrent fever (47.5%) and sinopulmonary infection (42.5%). Life-threatening infections (42.5%), caused by various pathogens, were the most serious threats faced by CD40L-deficient patients, while neutropenia (57.5%) remained the most common complication. Opportunistic infections, including Pneumocystis carinii pneumonia and invasive fungal disease associated with Talaromyces marneffei, were also common in the cohort. In addition, seven patients (17.5%) suffered BCGitis/BCGosis, which is a major problem facing a planned immunization programme in China. It was intriguing that reduced IgM levels were observed in 12.5% of patients, while normal or elevated IgA levels were shown in 47.5% of patients. Thirty-seven unique mutations were identified in 40 patients; of these, 10 were novel. Furthermore, we observed a lower percentage of NK cells, Tfh cells, and central memory CD4+ T cells, and an extremely small class-switched memory B cell population, in CD40L-deficient patients. Patients who underwent hematopoietic stem cell transplantation experienced better disease remission. Taken together, our data establish the largest database about CD40L deficiency in China and provide genetic, immunologic and clinical information about Chinese CD40L-deficient patients.

Study of marine debris around a tourist city in East China: Implication for waste management

Marine debris characterization is fundamental for developing policies aiming at ending the flow of marine debris at the source. China has the largest coastal population in the world. For this emerging economy, the sources of debris might be different from those in regions at different developmental stages. As a typical coastal tourist city and a special economic zone in East China, there are multiple sources of marine debris continuously produced around Xiamen. Marine debris characterization here could provide insights into regulatory measures. Therefore, the abundance and composition of marine debris around Xiamen were investigated. Average densities of floating, beached, benthic macro-debris and floating microplastics (0.5 mm - 5 mm) were 3963 ± 2027 items km−2, 0.13 ± 0.08 items m−2, 20,274 ± 15,873 items km−2 and 36,455 ± 33,935 items km−2, respectively. Based on the Clean Coast Indexes, the beaches investigated were supposed to be “very clean” most of the time (73.2% ± 34.9%). Wastes with low value for recycling/reuse, such as grocery bags, ropes, and foams, were the main items of marine debris in the study area. Both domestic sources from the upstream and local fishing/aquaculture activities significantly contributed to marine debris. Obvious regional differences in benthic debris categories could be explained by both natural factors and the rural-urban gap in economic levels, waste-management strategies and infrastructure. These might be common features in this emerging market and densely populated economy. The findings provide insights into the sources of mismanaged waste around this tourist city and some neglected deficiencies in China's current solid waste management system.

In vivo metabolic profiles of Bu-Zhong-Yi-Qi-Tang, a famous traditional Chinese medicine prescription, in rats by ultra-high-performance liquid chromatography coupled with quadrupole time-of-flight tandem mass spectrometry

Bu-Zhong-Yi-Qi-Tang (BZYQT), a famous traditional Chinese medicine prescription (TCMP), has been extensively used for conditioning sub-health status and diseases caused by spleen-qi deficiency in China for over 700 years. BZYQT is prevalent not only in China, but also in Japan and South Korea for the clinical treatment of chronic diseases, such as fatigue, tuberculosis and loss of appetite after surgery. However, due to a lack of research on the holistic metabolism of BZYQT, the in vivo bioactive components of BZYQT remain unclear, hindering further study of its in vivo mechanism of action and quality control. In the present study, a four-step integrated strategy based on ultra-high-performance liquid chromatography coupled with quadrupole time-of-flight tandem mass spectrometry (UHPLC-Q-TOF/MS) was established to systematically screen the in vivo xenobiotics of BZYQT. Ultimately, a total of 162 xenobiotics (59 prototypes and 103 metabolites) were identified or tentatively characterized, including 48 in plasma, 147 in urine and 58 in feces, while the in vivo metabolic profile of atractylenolide III (a major component of BZYQT) was elucidated for the first time. The xenobiotics of BZYQT mainly included flavonoids from Astragali Radix, Glycyrrhizae Radix et Rhizoma and Citrus reticulatae Pericarpium; lactones from Angelicae Sinensis Radix and Atractylodis Macrocephalae Rhizoma; and triterpenoid saponins from Cimicifugae Rhizoma. After oral administration, BZYQT-related components underwent diverse metabolic pathways. Among them, flavonoids mainly underwent glucuronidation, sulfation and demethylation, while lactones mainly underwent hydroxylation and acetylcysteine conjugation, and deglycosylation was the major metabolic reaction of saponins. Our investigation gives a comprehensive analysis of the metabolic characteristics of BZYQT and will provide an important basis for further studying the pharmacokinetics of BZYQT to explore its in vivo disposal features and discover its in vivo bioactive components.

The Impacts of New Media on Marketing Effectiveness

Tourism shopping is an important part of the tourism industry as well as the regional economy. Tourism souvenirs sales, in most of the developed tourism areas, account for more than 35% of the total tourism revenues, and even in some individual regions the proportion can achieve more than 50%. But in China this proportion is only 20%. In this article, the corresponding analysis method is used to calculate and analyze the status quo of souvenir network marketing of the tourism website in China and Korea. The article describes the advantages and disadvantages of the tourism souvenirs network marketing in China and Korea, finding the deficiencies in China and analyzing the causes and providing the corresponding reference for the healthy development of China's tourism industry.

Spatial knowledge deficiencies drive taxonomic and geographic selectivity in data deficiency

The uncertain threat status of species inevitably influences their focus on conservation. Just as in extinction risk, the non-randomness phenomenon related to uncertainty (also referred to as selectivity), which is a certain character cluster in some groupings, also exists in data deficiency of species' knowledge. In order to illustrate this kind of non-random phenomenon and explain the uncertainties it caused, we performed a hypergeometric test on taxonomic and geographic groupings of China's spermatophyte species and quantified two factors— frequency of collections and spatial accessibility— to indicate the primary causes of spatial knowledge deficiencies. We found that selectivity in data deficiency exists both taxonomically and geographically. Fifteen of the families were more deficient than expected, which included 30.0% of species and 56.3% ranked data deficient (DD). Among these, eight families were statistically highly significant with p < 0.001 and included 25.2% of species and 50.0% ranked DD. Forty-six families were less deficient than expected. With respect to floristic division, four of 29 floristic regions and subregions were more deficient than expected, and seven were less deficient than expected. Spatial autocorrelation analysis on DD species suggested an aggregated pattern of data deficiency in China (Moran's I = 0.58, z-score = 27.0, p < 0.001), and these areas that contained the highest numbers of DD species also contained the highest number of species (Spearman's R2 = 0.879, p < 0.001). However, the largest DD ratio had a low correlation with the richest DD spatial diversity. Moreover, we found the larger the DD ratio was, the lower the frequency of collections and the poorer the spatial accessibility would be. In the research, we showed that the uncertainties associated with DD species would alter the non-randomness in the selectivity of data deficiency and further affect the focus of conservation. Only with a full understanding of the process and mechanisms of data deficiency can we determine where and what kind of actions are necessary to improve the knowledge of plant diversity.

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.

Protein S (PS) deficiency is associated with a 10-fold increased risk of venous thromboembolism (VTE), but its diagnosis is quite difficult and complicated. In this study, we identified 53 unrelated pedigrees with PS deficiency in China. Data of their clinical characteristics and laboratory examinations were collected. Genetic analysis of PROS1 including direct sequencing, copy number variant detection and messenger ribonucleic acid analysis was performed in probands and related family members. Of these 53 probands, 52.8% (28/53) experienced multi-site and/or recurrent thrombotic episodes, mainly manifested as deep venous thrombosis and/or pulmonary embolism (82.7%). Additional risk factors of VTE were observed in 39.6% (21/53) probands who exhibited a significantly higher rate of recurrent VTE compared with those not, in which 7 probands were complicated by anti-phospholipid syndrome. Most probands and family members exhibited quantitative PS deficiency with impairment of both activated protein C and tissue factor pathway inhibitor cofactor activities. Note that 87.2% (34/39) PROS1 detectable mutation rate was obtained through comprehensive phenotypic and genetic analysis. A total of 36 PROS1 causative mutations including 16 novel mutations were identified in 48 probands, whereas no PROS1 mutations were detected in the other 5 probands. Three hotspot mutations (Glu67Ala, Arg561Trp and Tyr560*) were identified in the Chinese population for the first time. This article provides a framework for correlating the clinical pathogenesis of PS deficiency to genetic backgrounds in the Chinese population.