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OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent.@*CONCLUSION@#The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.
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Child , Humans , Intellectual Disability/genetics , Frameshift Mutation , High-Throughput Nucleotide Sequencing , Computational Biology , Heterozygote , Mutation , ras GTPase-Activating Proteins/geneticsABSTRACT
BACKGROUND@#Butylphthalide (NBP) and edaravone (EDV) injection are common acute ischemic stroke medications in China, but there is a lack of large real-world safety studies on them. This study aimed to determine the incidence of adverse events, detect relevant safety signals, and assess the risk factors associated with these medications in real-world populations.@*METHODS@#In this study, data of acute ischemic stroke patients were extracted from the electronic medical record database of six tertiary hospitals between January 2019 and August 2021. Baseline confounders were eliminated using propensity score matching. The drugs' safety was estimated by comparing the results of 24 laboratory tests standards on liver function, kidney function, lipid level, and coagulation function. The drugs' relative risk was estimated by logistic regression. A third group with patients who did not receive NBP or EDV was constructed as a reference. Prescription sequence symmetry analysis was used to evaluate the associations between adverse events and NBP and EDV, respectively.@*RESULTS@#81,292 patients were included in this study. After propensity score matching, the NBP, EDV, and third groups with 727 patients in each group. Among the 15 test items, the incidence of adverse events was lower in the NBP group than in the EDV group, and the differences were statistically significant. The multivariate logistic regression equation revealed that NBP injection was not a promoting factor for abnormal laboratory test results, whereas EDV had statistically significant effects on aspartate transaminase, low-density lipoprotein cholesterol and total cholesterol. Prescription sequence symmetry analysis showed that NBP had a weak correlation with abnormal platelet count. EDV had a positive signal associated with abnormal results in gamma-glutamyl transferase, alanine aminotransferase, aspartate aminotransferase, prothrombin time, and platelet count.@*CONCLUSIONS@#In a large real-world population, NBP has a lower incidence of adverse events and a better safety profile than EDV or other usual medications.
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Objective:To evaluate the in vitro antifungal activity of berberine against Talaromyces marneffei (TM) in yeast phase. Methods:There were 21 TM strains, including l standard strain (ATCC22019), 10 clinical isolates and 10 isolates from wild bamboo rats. TM strain suspensions at a concentration of (1 - 5) × 10 3 colony-forming units/ml were incubated in microdilution plates containing difierent concentrations of berberine, fluconazole, itraconazole, voriconazole, amphotericin B or caspofungin at 37 ℃ for 48 hours. Meanwhile, the wells containing only culture media and TM strains but without antifungal drugs served as the positive control group, and those containing only culture media served as the negative control group. The minimum inhibitory concentrations (MICs) of antifungal drugs against TM yeasts were determined according to the Clinical and Laboratory Standards Institute (CLSI) broth microdilution susceptibility method (M27-A3 document) . Results:The MICs of the above antifungal drugs were all within the reference ranges for the quality control strain (ATCC22019), and TM strains grew well in the positive control wells. The MIC ranges of berberine, itraconazole, voriconazole, amphotericin B and caspofungin against TM strains were 32 - 64 mg/L, 0.06 - 0.125 mg/L, 0.06 - 0.125 mg/L, 1 - 2 mg/L and 16 - 32 mg/L respectively; the MIC range of fluconazole was 2 - 4 mg/L for non-resistant strains, and 128 mg/L for fluconazole-resistant clinical strains.Conclusion:Berberine exhibits antifungal activity against TM in yeast phase.
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This article reviewed the concept and theoretical models of dyadic coping, as well as the related factors of dyadic coping of pregnant women and their spouses, and introduced the application status of dyadic coping in pregnant women and their spouses. To provide a reference for constructing a dyadic coping intervention plan between pregnant women and their spouses based on the cultural background of China.
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Objective:To establish an in vivo diffusion model of Treponema pallidum (Tp) in New Zealand rabbits. Methods:A standard strain of Tp (Nichols strain) was recovered in the testes of New Zealand rabbits, and isolated and passaged continuously. The suspensions of the second-passage Tp were collected and inoculated onto the dorsal skin of New Zealand rabbits. After 21-day infection, the New Zealand rabbits were anesthetized and sacrificed, blood samples were collected, and skin tissues at the infection site as well as liver, spleen, testes and lymph nodes were aseptically resected. Real-time fluorescence-based quantitative PCR was performed to detect the spread of Tp in different tissues and organs.Results:On day 21 after infection with Tp, skin lesions such as indurations and ulcers were seen at all inoculated sites of New Zealand rabbits. Pathological examination showed a lot of inflammatory cells in the infected lesions, mainly including plasma cells, macrophages and lymphocytes. Real-time fluorescence-based quantitative PCR revealed a large number of Tp in tissues and organs, such as liver, spleen and testes.Conclusion:After inoculation with Tp in the dorsal skin of New Zealand rabbits, Tp could spread to the liver, spleen, testes and other tissues and organs through blood and lymph nodes, and the in vivo diffusion model of Tp strains in New Zealand rabbits was successfully constructed.
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Background/Aims@#Proximal colorectal cancers (CRCs) account for up to half of CRCs. Sessile serrated lesions (SSLs) are precursors to CRC. Proximal location and presence of dysplasia in SSLs predict higher risks of progression to cancer. The prevalence of dysplasia in proximal SSLs (pSSLs) and clinical characteristics of dysplastic pSSLs are not well studied. @*Methods@#Endoscopically resected colonic polyps at our center between January 2016 and December 2017 were screened for pSSLs. Data of patients with at least one pSSL were retrieved and clinicopathological features of pSSLs were analysed. pSSLs with and without dysplasia were compared for associations. @*Results@#Ninety pSSLs were identified, 45 of which had dysplasia giving a prevalence of 50.0%. Older age (65.9 years vs. 60.1 years, p=0.034) was associated with the presence of dysplasia. Twelve pSSLs were 10 mm or larger. After adjusting for age, pSSLs ≥10 mm had an adjusted odds ratio of 5.98 (95% confidence interval, 1.21–29.6) of having dysplasia compared with smaller pSSLs. @*Conclusions@#In our cohort of pSSLs, the prevalence of dysplasia is high at 50.0% and is associated with lesion size ≥10 mm. Endoscopic resection for all proximal serrated lesions should be en-bloc to facilitate accurate histopathological examination for dysplasia as its presence warrants shorter surveillance intervals.
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Background/Aims@#Proximal colorectal cancers (CRCs) account for up to half of CRCs. Sessile serrated lesions (SSLs) are precursors to CRC. Proximal location and presence of dysplasia in SSLs predict higher risks of progression to cancer. The prevalence of dysplasia in proximal SSLs (pSSLs) and clinical characteristics of dysplastic pSSLs are not well studied. @*Methods@#Endoscopically resected colonic polyps at our center between January 2016 and December 2017 were screened for pSSLs. Data of patients with at least one pSSL were retrieved and clinicopathological features of pSSLs were analysed. pSSLs with and without dysplasia were compared for associations. @*Results@#Ninety pSSLs were identified, 45 of which had dysplasia giving a prevalence of 50.0%. Older age (65.9 years vs. 60.1 years, p=0.034) was associated with the presence of dysplasia. Twelve pSSLs were 10 mm or larger. After adjusting for age, pSSLs ≥10 mm had an adjusted odds ratio of 5.98 (95% confidence interval, 1.21–29.6) of having dysplasia compared with smaller pSSLs. @*Conclusions@#In our cohort of pSSLs, the prevalence of dysplasia is high at 50.0% and is associated with lesion size ≥10 mm. Endoscopic resection for all proximal serrated lesions should be en-bloc to facilitate accurate histopathological examination for dysplasia as its presence warrants shorter surveillance intervals.
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Magnoliae Officinalis Cortex（MOC） is a commonly used traditional Chinese medicine（TCM） in China. It is spicy-warm in property and bitter in flavor. It has the effects in eliminating dampness， eliminating phlegm and removing fullness. It is commonly used for dampness obstruction to spleen and stomach， chest and epigastric distension， glutinous grains， nausea， vomiting， abdominal pain and abdominal distension. It has a good efficacy in treating gastrointestinal discomfort and anorexia in clinic. The results showed that MOC mainly contains phenolic compounds， alkaloids and volatile oil. Magnolol， honokiol and other phenolic compounds are the main active substances， with obvious pharmacological activities on digestive， nervous， cardiovascular and respiratory systems. In addition， it also has anti-inflammatory， analgesic， anti-bacterial， anti-tumor and anti-oxidation effects. Except for magnolol and honokiol and other active substances， MOC flowers also contain volatile oil， with a similar effect with MOC but a weaker function. It is mainly used for treating spleen and stomach dampness， fullness， chest and epigastric distension. In addition to magnolol and honokiol and other phenolic compounds， MOC leaves also contain volatile oil， flavonoids and polysaccharides and other chemical components， which have antibacterial， antioxidative， vasodilatory and other pharmacological effects. It can be used as medicine instead of MOC in clinic. In this paper， the pharmacology studies of MOC in recent 5 years was reviewed， in order to better develop and utilize magnolia bark and its waste flowers and leaves， and further develop relevant functional products with MOC as the main drug， while providing new ideas for expanding the resources of TCM.
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Plant breeding is well recognized as one of the most important means to meet food security challenges caused by the ever-increasing world population. During the past three decades, plant breeding has been empowered by both new knowledge on trait development and regulation (e.g., functional genomics) and new technologies (e.g., biotechnologies and phenomics). Gene editing, particularly by clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) and its variants, has become a powerful technology in plant research and may become a game-changer in plant breeding. Traits are conferred by coding and non-coding genes. From this perspective, we propose different editing strategies for these two types of genes. The activity of an encoded enzyme and its quantity are regulated at transcriptional and post-transcriptional, as well as translational and post-translational, levels. Different strategies are proposed to intervene to generate gene functional variations and consequently phenotype changes. For non-coding genes, trait modification could be achieved by regulating transcription of their own or target genes via gene editing. Also included is a scheme of protoplast editing to make gene editing more applicable in plant breeding. In summary, this review provides breeders with a host of options to translate gene biology into practical breeding strategies, i.e., to use gene editing as a mechanism to commercialize gene biology in plant breeding.
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Ribavirin is a widely used nucleoside antiviral drug. During the epidemic of coronavirus disease 2019 (COVID-19), ribavirin was recommended for empirical treatment in the Clinical Management of Human Infection with COVID-19 (trial guidance v6). However, due to the large inter-individual variations in dose-response relationship, and extremely long terminal half time, it is necessary to perform therapeutic drug monitoring and individualized dose adjustment for ribavirin in special populations. In this article, the pharmacokinetics and therapeutic drug monitoring of ribavirin in different populations are reviewed in order to provide reference for clinical rational use and individualized medication of ribavirin for treatment of COVID-19.
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Plant breeding is well recognized as one of the most important means to meet food security challenges caused by the ever-increasing world population. During the past three decades, plant breeding has been empowered by both new knowledge on trait development and regulation (e.g., functional genomics) and new technologies (e.g., biotechnologies and phenomics). Gene editing, particularly by clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) and its variants, has become a powerful technology in plant research and may become a game-changer in plant breeding. Traits are conferred by coding and non-coding genes. From this perspective, we propose different editing strategies for these two types of genes. The activity of an encoded enzyme and its quantity are regulated at transcriptional and post-transcriptional, as well as translational and post-translational, levels. Different strategies are proposed to intervene to generate gene functional variations and consequently phenotype changes. For non-coding genes, trait modification could be achieved by regulating transcription of their own or target genes via gene editing. Also included is a scheme of protoplast editing to make gene editing more applicable in plant breeding. In summary, this review provides breeders with a host of options to translate gene biology into practical breeding strategies, i.e., to use gene editing as a mechanism to commercialize gene biology in plant breeding.
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Skin-stretching device as a new treatment method of wound closure has been recognized by many discipline fields. Through continuous improvement and adjustment in clinical application, it has achieved remarkable results in some departments. This article summarizes the basic theory, history, classification, and application of skin-stretching devices.
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Hepatocyte growth factor (HGF) is a multifunctional cytokine that is related to many diseases. HGF mainly contributes to cell migration,proliferation,and survival and regulates vascular angiogenesis,matrix deposition,and degradation of wound healing. HGF also promotes wound reepithelialization and reduces scar formation. This review article summarizes the role of HGF in wound repair and the relationship between HGF and other growth factors,especially when applied for the clinical treatment of chronic skin ulcers.
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Humans , Cell Movement , Cell Proliferation , Hepatocyte Growth Factor , Physiology , Skin Ulcer , Pathology , Wound HealingABSTRACT
Neonatal tracheal intubation is not only an important anesthesiologist's skill of neonatal anesthesia,but also a necessary skill for a neonatologist.In the process of neonatal resuscitation and anaesthetic induction of tracheal intubation,it is important to complete the tracheal intubation and control the airway rapidly.Before neonatal tracheal intubation,it is an important task for the neonatologist and anesthesiologist to select the suitable anesthetic drugs and reasonable compatibility,and to make the vital signs stable during intubation in order to reduce adverse events.This paper reviews the types and compatibility of anaesthetic drug for neonatal intubation in recent year,in order to provide reference for clinical selection.
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Leukemia is the most common type of cancer in childhood, which is also one of the malignant tumors that can be cured by chemotherapy. However, infection and the side effects of chemotherapy drugs are the causes of death in children with leukemia. Chemotherapy combined with traditional Chinese medicine is used to treatment of pediatric leukemia in clinic. Although traditional Chinese medicine has extensive clinical experience in the treatment of leukemia, the mechanism is not clear. The targeted drugs are attractive for the advantages of the high selectivity and little side effects. Targeted therapies in pediatric leukemia are targeting BCR/ABL, TARA and FLT3 proteins, which activation results in the downstream activation of multiple signaling pathways, including the PI3K/AKT, JNK/STAT, Ras/ERK pathways. In recent years, the target site or the signaling pathways are clear for the traditional Chinese medicine in the treatment of leukemia. In this paper, we review recent studies, summary the traditional Chinese medicine prescriptions and effective ingredients which can regulate the signaling pathways. We view to provide a basis for the treatment of childhood leukemia with traditional Chinese medicine combined with chemotherapy drugs or targeted drugs.
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As an internal environment of tumor occurrence, tumor microenvironment is composed of a variety of cells and extracellular matrix, and plays a crucial role in tumor formation, transfer and resistance to drugs. The regulation of tumor microenvironment will be a potential target to control the cancer. MicroRNAs (miRNAs) are a kind of 21 to 25 nucleotides single-stranded RNA, and are mainly involved in regulating gene expression. Recently, with the suggestion of cellular auton-omous tumor inhibition mechanism, the regulation of tumor microenvironment by miRNAs has received great attention. This review summarizes recent findings on the non-cell-autonomous mechanisms of miRNAs-mediated regulation of tumor micro-environments, which provides foundations and perspective on the design of therapeutic interventions.
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Objective To explore the efficacy of sufentanil and propofol for analgesia in patients with acute myocardial infarction (AMI). Methods According to the random number table, 118 AMI patients were divided into sufentanil group and remifentanil group, with 59 in each group. The initial target effect concentrations of sufentanil and remifentanil were 0.25ng/ml and 2ng/ml respectively, and both of them were combined with propofol, initial target plasma concentration of which was 2μg/ml, with an increase of 0.5μg/ml every 2min till the loss of consciousness. Hemodynamic changes at pre-anesthesia induction (T0), preintubation (T1), immediately after intubation (T2), 2min after intubation (T3), end of operation (T4), and extubation (T5), and anesthetic condition, awakening time, postoperative analgesic effect, and complications were compared between two groups. Results Systolic blood pressure (SBP) and diastolic blood pressure (DBP) were lowered at T0-T2 in both groups, and they gradually rose at T2-T5. HR was lowered at T0-T1, and it rose gradually at T1-T5, but SBP and DBP fluctuation was more obvious in remifentanil group than in sufentanil group, with a significant difference at T1-T5, and a significant difference in HR at T1, T2 and T5 (P0.05). The time for recovery of spontaneous breathing, time for eyeopening, upon calling, time of extubation and orientation recovery time were significantly longer in the sufentanil group than those in the remifentanil group (P0.05). Conclusion As compared with remifentanil, sufentanil combined with propofol is used for analgesia in AMI patients resulting in more stable hemodynamics, better postoperative awakening quality, and fewer complications, thus it is worthy of wider clinical use.
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In order to reveal the cause of disease occurred in the process of Coptis chinensis growth, this paper studied the bacterial species diversity index of different aged rhizospheric and non-rhizospheric soil planting normal or sick C. chinensis by using PCR-DGGE technique. The representative DGGE bands were chosen to be cloned, and sequenced, the phylogeny were constructed. The results showed that the bacterial communities were very different between the normal and diseased soil samples of C. chinensis, and the diversity index (H) of diseased soil samples were higher than that of normal soil samples. Sequencing analysis of representative cloned DGGE bands showed that the unculturable bacteria were the dominant groups, and bacteria belonged to genus Bacillus, Acidovorax, Acinetobacter, uncultured Kluyvera, and uncultured Comamonas were also existing, but the reported plant pathogenic bacteria were not found in the C. chinensis planting soil. The density and brightness of clone band d in diseased soil samples was higher than that in normal soil sample, and sequencing analysis showed that it belonged to genus Acidovorax. Obviously, during the process of C. chinensis growth, the rhizospheric bacteria population changed, and the quantity of bacteria belong Acidovorax increased, which probably resulted in the disease occurred during C. chinensis growth.
Subject(s)
Bacteria , Classification , Genetics , Biodiversity , Coptis , Microbiology , Denaturing Gradient Gel Electrophoresis , Molecular Sequence Data , Phylogeny , Polymerase Chain Reaction , Rhizosphere , Soil MicrobiologyABSTRACT
BACKGROUND:Intracerebral administration of selective drugsviathe carotid artery is currently one of the effective methods to enhance the drug concentration in the brain and reduce the influence of drugs on other system functions. OBJECTIVE:To establish the muscle-relaxation rabbit models by infusing propofol continuously in the internal carotid artery and analyze the variations of propofol concentration. METHODS: The muscle-relaxation rabbit models were established by continuously infusing propofol at a constant speedviacatheterization in the internal carotid artery. The pharmacokinetic characteristics could be analyzed by the methods of obtaining arterial and venous blood on both sides of neck and samples of brain tissue on both sides in different points, detecting drug concentration using high pressure liquid assay, and then mathematicaly conversing the resulting data for fitting processing and statistical regression. RESULTS AND CONCLUSION:The method of determining the concentration of propofol using high pressure liquid assay is feasible, stable and reliable. Through investigating the concentration of propofol infused via the carotid artery at different time points, we discovered that the growth rate distribution of propofol concentration and data distribution are in log-normal distribution profile which belong to non-exponential kinetics model,i.e., modified log-normal distribution model,??)(ln x μ 2 1 fx ()=e 2σ2 , whereσ is the range of drug concentration growth indicating stability xk 2πσ of concentration changes, which is an integrated variable related to various factors, such as brain tissue uptake of drugs and brain circulation. The pharmacokinetic model of continuously infusing propofol in the internal carotid artery belongs to log-normal distribution function, i.e., a non-exponential function kinetics model. The brain concentration variations on both sides changing over time folow log-normal distribution function law.
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Objective To evaluate the role of spinal c?Jun N?terminal kinase ( JNK ) signaling pathway in incisional pain in rats. Methods Sixty?three adult male Sprague?Dawley rats, weighing 200-250 g, were randomly divided into 3 groups ( n=21 each) using a random number table: incisional pain group ( IP group) , dimethyl sulfoxide ( DMSO) group, and JNK inhibitor SP600125 group ( SP group) . A 1?cm longitudinal incision was made through skin, fascia and muscle of the plantar aspect of the hindpaw in anesthetized rats. In group DMSO, 10% DMSO 10 μl was injected intrathecally at 30 min before surgery. In group SP, SP600125 25 μg (in 10 μl of 10% DMSO) was injected intrathecally at 30 min before sur?gery. Six rats in each group were sacrificed, and the mechanical paw withdrawal threshold ( MWT) and thermal paw withdrawal latency ( TWL) were measured at 24 h before establishment of the model and 2, 6, 24, 48 and 72 h after establishment of the model. After measurement of the pain threshold at 24 h before establishment of the model and 6, 24, 48 and 72 h after establishment of the model, the lumbar segment of the spinal cord was removed for determination of the expression of phosphorylated JNK ( p?JNK) by im?munofluorescence. Results The MWT was significantly lower, the TWL was shorter, and the expression of p?JNK was lower at each time point after establishment of the model than at 24 h before establishment of the model in group IP (P0?05) . Conclusion Spinal JNK signaling pathway is involved in the develop?ment and maintenance of incisional pain in rats.