Visual analysis of occupational health and safety research among medical staff / 中国职业医学

Objective: To study the current status, hotspots and frontiers in the field of occupational health and safety (OHS) research among medical staff. Methods: A comprehensive search on OHS of domestic and international literature on medical staff was conducted using the China National Knowledge Infrastructure and Web of Science databases from 2002 to 2022. The collected literature was subjected to bibliometric analysis and visualized using CiteSpace 6.1.R6 software. Results: A total of 5 858 articles related to medical personnel OHS comprising 2 144 Chinese articles and 3 714 English articles, were included. The publication of Chinese articles showed an initial increase followed by a decline, while English articles exhibited a sustained increase followed by a sudden decline. Domestic research mainly focused on hospitals and academic institutions, with few collaboration between institutions and regions in China. Research abroad demonstrated strong collaboration and exchange between countries and institutions. The OHS related research hotspots were occupational exposure, occupational health, and occupational safety of medical personnel at home and abroad. The key department of interest was operating rooms, and the key group personnel was nurses. Advanced research in foreign countries has extended to fields such as personal protective equipment and medical personnel sleep issues. Conclusion: There is still a gap on OHS research among medical staff between China and foreign countries. Domestic scholars need to grasp the academic frontiers, strengthen collaboration and exchange among domestic institutions, regions, and international counterparts, enlarge the research scope and content to ensure the OHS of medical personnel.

Progress in open surgical treatment of thoracolumbar kyphosis secondary to old osteoporotic vertebral compression fractures / 中华骨科杂志

Osteoporotic vertebral compression fracture (OVCF) is the most common complication of spinal osteoporosis, mostly occurring in thoracolumbar segment, which can cause acute and chronic pain at the fracture site and loss of vertebral height, and can lead to progressive kyphosis. For kyphosis caused by old OVCF, open surgery such as anterior or posterior decompression and fusion, internal fixation and osteotomy can improve local sequence and achieve satisfactory kyphotic correction which is difficult to complete in percutaneous vertebroplasty (PVP) and percutaneous kyphoplasty (PKP), and reconstruct the sagittal balance. Due to the older age of OVCF patients, some of them have poor general conditions. In addition, osteoporosis leads to increased vertebral fragility, which increases the risk of surgery and postoperative internal fixation failure. The anterior approach presents some problems including a complex approach and poor mechanical stability. At present, most studies focus on posterior surgery. Due to the limitation of kyphosis correction by decompression and fixation alone, osteotomy is often required to correct kyphosis. In cases of old OVCF with kyphosis, the screw holding capability decreases due to the decrease of bone mineral density. Additionally, once the screw loosens, the orthopedic effect is inevitably affected. To enhance pedicle screws, most studies have utilized bone cement to increase the axial pullout force of the vertebral body and improve screw stability. The selection from different osteotomy methods is a critical determinant in achieving favorable surgical outcomes for patients.

Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China / 生物医学与环境科学（英文）

OBJECTIVE@#This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.@*METHODS@#We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.@*RESULTS@#The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.@*CONCLUSION@#Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

Genetic analysis of a fetus with mosaicism of 13q inversion duplication / 中华医学遗传学杂志

OBJECTIVE@#To report on a case of mosaicism 13q inversion duplication, analyze its mechanism, and discuss the correlation between its genotype and phenotype.@*METHODS@#Amniotic fluid and umbilical cord blood were collected at 23 and 32 weeks of gestation, respectively. Combined with G-banding chromosome karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were used to confirm the result.@*RESULTS@#The karyotype of the fetus was determined as 47,XY,+inv dup(13)(q14.3q34)/46,XY. After careful counseling, the couple decided to continue with the pregnancy, and had given birth to a boy at 40 weeks' gestation. Except for a red plaque (hemangioma) on the nose bridge, no obvious abnormality (intelligence to be evaluated) was discovered.@*CONCLUSION@#To provide reference for clinical genetic counseling and risk assessment, the location and proportion of new centromere formation should be fully considered in the case of mosaicism 13q inversion duplication.

6-Gingerol ameliorates adipose tissue insulin resistance in aging rats / 中国中药杂志

This study investigated the effects and mechanisms of 6-gingerol on adipose tissue insulin resistance in naturally aging rats with glycolipid metabolism disorders. Twenty-seven aging male SD rats were randomly divided into a model group(aged, n=9) and two groups treated with 6-gingerol at 0.05 mg·kg~(-1)(G-L, n=9) and 0.2 mg·kg~(-1)(G-H, n=9). Six young rats were randomly assigned to a normal control group(NC). Rats were treated for seven weeks by gavage. Non-esterified fatty acid(NEFA) and insulin content was determined by enzyme-linked immunosorbent assay(ELISA), and adipose tissue insulin resistance index(Adipo-IR) was calculated. HE staining was used to observe the size of adipocytes in epididymal white adipose tissue(eWAT). The gene and protein expression levels of adiponectin receptor 1(AdipoR1), AMP-activated protein kinase α(AMPKα), phosphorylated AMPK(p-AMPKα~(Thr172)), peroxisome proliferator-activated receptor-γ coactivator-1α(PGC-1α), phosphatidylinositol 3-kinase(PI3 K), protein kinase B(Akt), phosphorylated Akt(p-Akt~(Ser473)), tumor necrosis factor-α(TNF-α), c-Jun N-terminal kinase 1/2(JNK1/2), phosphorylated JNK1/2(p-JNK~(Thr183/Tyr185)), interleukin-1β(IL-1β), and interleukin-6(IL-6) in adiponectin(APN), insulin, and inflammatory factor signaling pathways were detected by Western blot and real-time RCR, respectively. The results showed that 6-gingerol at a high dose could significantly decrease the fasting plasma content of NEFA and insulin and reduce Adipo-IR. Additionally, 6-gingerol at a high dose significantly increased the protein and mRNA expression of APN, AdipoR1, PGC-1α, and PI3 K in eWAT, elevated the relative expression of p-AMPK~(Thr172) and p-Akt~(Ser 473), reduced the protein and mRNA expression of TNF-α, IL-1, and IL-6 in eWAT, and decreased the relative expression of p-JNK1 and p-JNK2. This study reveals that 6-gingerol can improve insulin sensitivity of adipose tissues in aging rats with glycolipid metabolism disorders, and this effect is presumedly achieved by enhancing the PI3 K/Akt signaling pathway, inhibiting adipose tissue inflammation, increasing APN synthesis, enhancing AdipoR1 expression, and activating its downstream AMPK/PGC-1α signaling pathway.

Development of plasma quality control material for non-invasive prenatal detection of fetal aneuploidy / 中华检验医学杂志

Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.

Mechanism of drug induced ferroptosis in the treatment of head and neck tumors / 国际肿瘤学杂志

Ferroptosis is drived by lipid reactive oxygen species, which plays an important role in the development of tumors. It has been found that a variety of clinical medicines, such as artemisinin derivatives, itraconazole, sulfasala zine, cucurbitacin B, paclitaxel, disulfiram/copper can induce ferroptosis and inhibit tumor growth in head and neck cancer (HNC) through different mechanisms. To study the regulatory mechanism of ferroptosis induced by commonly used drugs in the treatment of HNC can provide reference for the targeted treatment of ferroptosis in HNC.

Mechanical factors and mechanism of keratoconus pathogenesis / 国际眼科杂志(Guoji Yanke Zazhi)

Keratoconus is a corneal ectatic disease characterized by progressive corneal thinning and protrusion. Its pathogenesis remains unclear. In vitro experiments have shown that mechanical stimulation may damage corneal stromal cells by increasing oxidative stress level and inflammatory factor concentration, resulting in a series of changes such as degradation of corneal extracellular matrix. Numerous clinical studies have confirmed that mechanical factors, including eye rubbing and eyeball compression caused by sleeping position, may play an important role in the process of keratoconus occurrence and development. They may affect the cornea by increasing the level of inflammatory factors in tear, causing changes in intraocular pressure, changing the biomechanical properties of the cornea, directly damaging corneal tissue by mechanical friction, and increasing the temperature of corneal epithelium. The main aim of this review was to describe the efforts of mechanical factors on corneal stromal cells, corneal tissue, and the possible role of mechanical factors in the pathogenesis of keratoconus, so as to provide a reference for the prevention and management of keratoconus.

Historical Evolution and Modern Research Progress of Rehmanniae Radix / 中国实验方剂学杂志

Rehmanniae Radix is a common medicine of traditional Chinese medicine， which has the function of nourishing Yin and tonifying the kidney， and has a long application history of processing. This medicine was first recorded in Synopsis of Golden Chamber （《金匮要略》）， which was mainly produced by steaming and boiling. Its processing materials were diverse. In addition to rice wine， honey， Amomi Fructus， milk， Aquilariae Lignum Resinatum， and Carthami Flos were also recorded in ancient books， but with the evolution of time， the characteristic excipients gradually disappeared. Based on this， starting with different excipients， the author consulted the classics of materia medica and processing specifications in various regions， sorted out the historical evolution of Rehmanniae Radix processing， and explored new methods and new ideas to exert the maximum efficacy on this basis. At the same time， the effects of different processing excipients on the chemical components and pharmacodynamic effects of Rehmanniae Radix were analyzed. After literature review， it was found that Rehmanniae Radix mainly had the effects of clearing heat and cooling blood， nourishing Yin and generating fluid. Its traditional processing excipients generally used rice wine， Carthami Flos and others. After processing with different excipients， there was different effects on the chemical components and pharmacological effects of Rehmanniae Radix. In summary， this paper can provide useful reference for standardized research on different processed products of Rehmanniae Radix.

Cytogenetic and molecular genetic analysis of three cases with small supernumerary marker chromosomes / 中华医学遗传学杂志

OBJECTIVE@#To delineate the origin and structure of 3 cases of small supernumerary marker chromosomes (sSMCs) through cytogenetic and molecular genetic analysis.@*METHODS@#Conventional G, C and N banding were carried out to analyze the chromosomal karyotypes. Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were used to delineate the origin and structure of the sSMCs.@*RESULTS@#In case 1, chromosomal karyotype of peripheral blood sample was 47,XY,+mar. This de novo sSMC was a dual-satellited dicentric inverted duplicated marker chromosome, for which CMA yielded a normal result. It was predicted to not increase the risk of offspring. In case 2, the fetal chromosomal karyotype was 47,XY,+mar[17]/46,XY[33]. Chromosomal banding suggested that this de novo segment contained euchromatin, and the result of CMA was arr[hg19] 5p12q11.1(45 694 574-49 475 697) × 3. FISH showed the sSMC to be a fragment derived from 5p12 containing the HCN1 gene. Case 3 was found to have a fetal karyotype of 45,XY,-13[25]/46,XY,r(13)[18]/46,XY,-13,+mar[7]. Both parents had refused further examination.@*CONCLUSION@#Conventional chromosomal banding combined with molecular methods can delineate the origin and structure of the sSMCs, which can help with prediction of their pathogenicity and facilitate genetic counseling.

Analysis of economic benefits of Chinese medicine eco-agriculture based on multiple stakeholders / 中国中药杂志

As the most advanced environment-friendly production model in the international society, ecological agriculture of Chinese materia medica(CMM) is the only way for the development of modern agriculture. With the proposal of the declaration on ecolo-gical agriculture of CMM, "Don't grab land from farmland, don't be enemies of grass and insects, don't be afraid of barren slopes and forests, and live up to the green and green mountains", the ecological planting of CMM has blossomed all over the country, and formed a scientific theory, technology and model. Based on the theory and method of economics, this paper expounds the comprehensive benefits and development advantages of ecological agriculture of CMM from the perspectives of farmers(producers), patients(consumers) and the country. From the perspective of medicinal farmers, the input and output income of conventional agriculture and ecological agriculture of CMM such as Panax ginseng, Astragalus propinquus, Atractylodes lancea, and Bupleurum chinense were compared, and it was found that ecological agriculture of CMM had obvious advantages in net income, average annual income and input-output ratio, which could better promote farmers' income. From the perspective of patients, according to the same dose, the content of active ingredients in ecologically planted CMMs is significantly higher than that in conventionally-planted herbs, and the amount of effective substances taken by patients is also higher, so as to achieve better therapeutic effect. At the national level, ecological planting of CMM is the key to ensuring the high-quality development of CMM industry, increasing farmers' income, ensuring the safety of people's drug use and promoting the sustainable development of agriculture. It is also an important part of realizing the harmonious development of economy, society and environment and promoting ecological civilization. In general, the declaration on ecological agriculture of CMM embo-dies the core characteristics and goals of ecological agriculture, and also points of the path and vision of ecological agriculture of CMM in the future. The declaration will guide production practice, promote the benefit of farmers, and lay the foundation for the sustainable development of CMM industry.

A pedigree analysis of a rare RhD 336-1G>A intron variant / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular mechanism of a case where RhD genotyping did not match serological results.@*METHODS@#The serological results of 8 members from two generations of this family were analyzed. And according to Mendelian law of inheritance, RhD genotyping, zygotic type determination and gene sequencing were performed for the family members.@*RESULTS@#The proband and one of her cousins have the same RhD alleles, both of them have a 336-1G>A intron variant RhD allele and a complete RhD deletion allele. The variant alleles are inherited from two of their parents with blood relationship, while the complete-deleted alleles come from the other. 336-1G>A means that the last base G of the second intron of the RhD gene is mutated to A, which leads to a negative RhD serology and a positive genotype in the proband.@*CONCLUSION@#There was a rare 336-1G> A intron variant gene (RhD * 01N.25) in this family, which was a recessive gene relative to the RhD gene and resulted in RhD phenotype negative.

Analysis of Medication Errors in Patients with Hyperuricemia/Gout Based on National Monitoring Network for Clinical Safe Drug Use / 中国药房

OBJECTIVE：To investigate the occurrence of medication errors （ME）in patients with hyperuricemia/gout and its related factors ，in order to avoid and reduce the occurrence of related ADE and ensure the safety of drug use in patients. METHODS：The ME reports related to hyperuricemia/gout were collected from National Monitoring Network for Clinical Safe Drug Use during Sept. 22nd，2012 to Jul. 9th，2020，and then analyzed in terms of reporting provinces ，classification and drugs involved，error content ，initiator and error factors. RESULTS ：A total of 179 ME reports ，which met inclusion criteria ，were included from 47 hospitals in 11 provinces. The drugs involved mainly included benbromarone （36 cases，20.11％），allopurinol （31 cases，17.32％），calcium carbonate D 3（30 cases，16.76％），inverting sugar electrolyte （24 cases，13.41％）and sodium bicarbonate（22 cases，12.29％）. Grade B ME were the most frequently reported （124 cases，69.27％）；severe ME occurred in 3 cases（1.68％）. The main errors were contraindications ，accounting for 70 cases（37.43％，mainly involving calcium carbonate D 3 and inverting sugar electrolyte ）. The people who caused ME were mainly doctors ，involving 126 cases（70.39％，the main content of errors was contraindications ）. The main error factors for ME were personnel factors ，involving 120 cases（67.04％，mainly lacking of knowledge ），followed by environmental factors （33 cases，mainly equipment failure ）. CONCLUSIONS ：ME in patients with hyperuricemia/gout are mainly caused by uric acid-lowering drugs and non-uric acid-lowering drugs that cause changes in uric acid. The main error contents include contraindications ，which were mostly caused by non-uric acid-lowering drugs and doctors. The main error factors are lack of knowledge and equipment failure. It is suggested to strengthen personnel training or introduce clinical medication support decision-making system ，while pay attention to the correct use and maintenance of related equipment in the process of drug use.

cDNA cloning of a novel lectin that induce cell apoptosis from Artocarpus hypargyreus / 中国天然药物

We isolated a novel lectin (AHL) from Artocarpus hypargyreusHance and showed its immunomodulatory activities. In this study, the amino acid sequence of AHL was determined by cDNA sequencing. AHL cDNA (875bp) contains a 456-bp open reading frame (ORF), which encodes a protein with 151 amino acids. AHL is a new member of jacalin-related lectin family (JRLs), which share high sequence similarities to KM+ and Morniga M, and contain the conserved carbohydrate binding domains. The antitumor activity of AHL was also explored using Jurkat T cell lines. AHL exhibits a strong binding affinity to cell membrane, which can be effectively inhibited by methyl-α-D-galactose. AHL inhibits cell proliferation in a time- and dose-dependent manner through apoptosis, evidenced by morphological changes, phosphatidylserine externalization, poly ADP-ribose polymerase (PARP) cleavage, Bad and Bax up-regulation, and caspase-3 activation. We further showed that the activation of ERK and p38 signaling pathways is involved for the pro-apoptotic effect of AHL.

Establishment of Cytarabine-resistant Acute Lymphoblastic Leukemia Cell Lines and Its Resistance Mechanism / 中国实验血液学杂志

OBJECTIVE@#To establish cytarabine-resistant acute lymphoblastic leukemia (ALL) cell lines and investigate its possible resistant mechanism.@*METHODS@#Low-concentration cytarabine (Ara-C) continuously induced and cultured Jurkat and Nalm-6 cells to construct cytarabine-resistant cell lines Jurkat/Ara-C and Nalm-6/Ara-C. The cell viability was detected by CCK-8 assay, and the distribution of cell cycle was detected by flow cytometry. Real-time fluorescence quantitative PCR was used to detect the mRNA expression levels of multidrug resistant gene and Ara-C metabolic enzymes. The expression levels of cyclin were detected by Western blot.@*RESULTS@#Jurkat/Ara-C and Nalm-6/Ara-C drug-resistant cell lines were successfully established, the resistance index of which was 1 973.908±161.163 and 7 231.643± 1 190.624, respectively. Drug-resistant cell lines had no cross-resistance to commonly used chemotherapeutic drugs, such as doxorubicin. Flow cytometry showed that the ratio of G@*CONCLUSION@#Cytarabine-resistant ALL cell lines are successfully established by using low concentration continuous induction method, and its drug-resistant mechanism may be related to the deficiencies of DCK and cyclinB1.

Role of JAK2-STAT3 signaling pathway in tumorigenesis and development / 国际肿瘤学杂志

JAK2-STAT3 signaling pathway, as the main chain of intracellular signal transmission, plays an important role in cell proliferation, apoptosis, invasion, migration and immune response. Triggered by cytokines and interferon, this pathway can quickly transduce extracellular signals into the nucleus, and it has abnormal expression in various tumors, such as squamous cell carcinoma of the head and neck, lung cancer, esophageal cancer, gastric cancer, liver cancer, breast cancer and myeloproliferative neoplasms. Further understanding of the carcinogenic mechanism of JAK2-STAT3 signaling pathway can provide new ideas for clinical treatment of tumors and prognosis.

Investigation on the anxiety status of pregnant women in non-high-risk areas during the COVID-19 epidemic / 四川精神卫生

ObjectiveTo investigate the anxiety status of pregnant women in non-high risk areas during the novel coronavirus pneumonia（COVID-19）， and to provide references for psychological intervention in pregnancy care. MethodsFrom January 27 to February 6， 2020， COVID-19 related knowledge questionnaire and Generalized Anxiety Scale （GAD-7） were used to investigate the anxiety status of pregnant and non-pregnant women in Mianyang during the epidemic period. GAD-7 score≥5 was classified as anxiety symptoms. The data were statistically analyzed by DPS 7.05. Variance analysis was carried out by a completely random design of a single factor test， and multiple comparisons were performed using the LSD method. ResultsThe GAD-7 score of pregnant women was higher than that of non-pregnant women， and the difference was statistically significant［（11.76±0.79） vs.（7.04±1.14）， P<0.01］. In the pregnant women group， the GAD-7 score of the woman with complications was higher than that of the woman without complications［（12.48±1.16） vs.（6.32±1.09）， P<0.01］. The GAD-7 score of primipara was higher than that of parturient［（10.15±1.15） vs.（8.72±0.97）， P<0.05］ and there were significant differences in GAD-7 scores among 21~30-year-old， 31~40-year-old and 41~50-year-old pregnant women［（11.88±1.39） vs.（8.80±0.84） vs.（4.35±0.81）， P<0.01］， respectively. ConclusionDuring the period of COVID-19， the anxiety symptoms of pregnant women in non-high-risk areas are more serious than those of non-pregnant women， among which the anxiety of pregnant women with complications and primiparae is more obvious.

Comparative Genome Analysis of Scutellaria baicalensis and Scutellaria barbata Reveals the Evolution of Active Flavonoid Biosynthesis / 基因组蛋白质组与生物信息学报·英文版

Scutellaria baicalensis (S. baicalensis) and Scutellaria barbata (S. barbata) are common medicinal plants of the Lamiaceae family. Both produce specific flavonoid compounds, including baicalein, scutellarein, norwogonin, and wogonin, as well as their glycosides, which exhibit antioxidant and antitumor activities. Here, we report chromosome-level genome assemblies of S. baicalensis and S. barbata with quantitative chromosomal variation (2n = 18 and 2n = 26, respectively). The divergence of S. baicalensis and S. barbata occurred far earlier than previously reported, and a whole-genome duplication (WGD) event was identified. The insertion of long terminal repeat elements after speciation might be responsible for the observed chromosomal expansion and rearrangement. Comparative genome analysis of the congeneric species revealed the species-specific evolution of chrysin and apigenin biosynthetic genes, such as the S. baicalensis-specific tandem duplication of genes encoding phenylalanine ammonia lyase and chalcone synthase, and the S. barbata-specific duplication of genes encoding 4-CoA ligase. In addition, the paralogous duplication, colinearity, and expression diversity of CYP82D subfamily members revealed the functional divergence of genes encoding flavone hydroxylase between S. baicalensis and S. barbata. Analyzing these Scutellaria genomes reveals the common and species-specific evolution of flavone biosynthetic genes. Thus, these findings would facilitate the development of molecular breeding and studies of biosynthesis and regulation of bioactive compounds.

Prenatal diagnosis of Rasopathies in Ras/MAPK signaling pathway / 中华医学遗传学杂志

RASopathies are a group of disorders caused by germline variants of genes involved in RAS/MAPK pathway with overlapping features which may complicate their diagnosis. Since almost all RASopathies are autosomal dominant inherited disorders, the affected families may give birth to multiple children with the disease. Owning to the advance in sequencing technology, the genotype-phenotype correlation of RASopathies has become clearer in recent years, and genetic testing is now available in many places, which make prenatal diagnosis for couples with increased risk possible. For de novo variants of RASopathies, prenatal diagnosis is still difficult as the findings in routine ultrasonography are not specific enough. Nevertheless, certain findings may still be used as clues for prenatal diagnosis. This article overviews the common disorders of RASopathies, with an emphasis on the features that can be used as clues for the prenatal diagnosis of RASopathies.

Epidemiological analysis on a family cluster of COVID-19 / 中华流行病学杂志

Objective@#To understand the possible transmission route of a family cluster of COVID-19 in Zhengzhou and the potential infectivity of COVID-19 in incubation period, and provide scientific evidence for the timely control of infectious source and curb the spread of the epidemic.@*Methods@#Epidemiological investigation was conducted for a family cluster of COVID-19 (8 cases) with descriptive epidemiological method, and respiratory tract samples of the cases were collected for the nucleic acid detection of 2019-nCoV by RT-PCR.@*Results@#Two primary cases, which occurred on 31 January and 1 February, 2020, respectively, had a common exposure history in Wuhan. The other six family members had onsets on 30 January, 31 January, 1 February (three cases) and 3 February, 2020.@*Conclusions@#In this family cluster of COVID-19, six family members were infected through common family exposure to the 2 primary cases. Five secondary cases had onsets earlier than or on the same day as the primary cases, indicating that COVID-19 is contagious in incubation period, and the home isolation in the early phase of the epidemic might lead to the risk of family cluster of COVID-19.