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Objective:To summarize the experience on accurate prevention and control of children′s emergency department during the epidemic of novel coronavirus Omicron variant.Methods:We retrospectively analyzed the strategies and management experience of emergency prevention and control of novel coronavirus infection in emergency department at Children′s Hospital of Fudan University from March to May 2022.Results:As a designated hospital for treating pediatric patients who contracted novel coronavirus in Shanghai, the emergency department in our hospital was confronted with the dual pressure of critical patients treatment and pandemic prevention and control.We carefully studied a series of laws and regulations, as well as the newest edition of Chinese clinical guidance for novel coronavirus pneumonia diagnosis and treatment, and combined with the characteristics of novel coronavirus infection in children, then formulated the independent emergency department, fever clinics and novel coronavirus clinics; Updated the emergency department pre-examination triage process, the precautions pratice of clinical stuffs and disfection strategy, and established the second emergency department.From the beginning of March to the end of May 2022, a total of about 12 000 patients were admitted to the emergency department in our hospital, including 704 patients in the resuscitation room, 652 patients in the observation room, and 164 patients in the emergency ward.There were six patients with novel coronavirus infection in the emergency department.Neither nosocomial infection nor occupational exposure occurred.Conclusion:After 3 months of practice, the results showed that it can fully guarantee the timely treatment of critically ill children and achieved zero cross-infection in the hospital, which has important reference significance for the treatment of children, epidemic prevention, control during the novel coronavirus epidemic.
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Objective:To summarize the experience of the precise prevention and control strategy of novel coronavirus infection in the pediatric intensive care unit(PICU)during the epidemic of the Omicron variant.Methods:A retrospective analysis was performed on the strategies and management experience of precise prevention and control of novel coronavirus infection in PICU at Pediatric Hospital of Fudan University from March 1 to May 10, 2022.Results:According to the national and Shanghai novel coronavirus infection prevention and control standards, the PICU in our hospital, in accordance with the specialty characteristics of PICU, cooperated with the hospital′s department of infection and medical department to jointly construct a precise ward management strategy for the outbreak of the omicron mutants infection.Precise prevention and control management strategies were formulated from four aspects: the admission process of critically ill children, the division of PICU ward areas and nosocomial infection protection, the reception management system for children′s family members, and the " bubble management" system for PICU staff, and run them for 3 months.During the epidemic, there was no nosocomial infection of novel coronavirus infection in children or medical staff.During the period, a total of 140 critically ill children were admitted, including 87 cases transferred from the general ward in the hospital, 48 cases from the emergency department(non-febrile, 3 cases transferred by the transfer team), four cases from fever clinic, and one case from control ward.Four of the critically ill children had no emergency nucleic acid test report when they were admitted to the PICU.Among the 140 critically ill children, 54 patients received mechanical ventilation, 18 patients received blood purification, and two patients were monitored after liver transplantation.Seventy-eight (55.7%) children had underlying diseases.Conclusion:During the current round of novel coronavirus epidemic in Shanghai, PICU in our hospital formulated the admission and ward management procedures for critically ill children, which ensured the prevention and control of nosocomial infection of novel coronavirus, and at the same time ensured the treatment of critically ill children to the greatest extent.
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Objective:To evaluate the efficacy of percutaneous curved kyphoplasty (PCKP) for the treatment of osteoporotic vertebral compression fracture (OVCF).Methods:A retrospective cohort study was conducted to analyze the clinical data of 70 patients with OVCF admitted to Third People′s Hospital of Datong from May 2020 to December 2021, including 32 males and 38 females, aged 60-89 years [(73.0±8.7)years]. The patients were treated with PCKP (PCKP group, n=20) or percutaneous vertebroplasty (PVP) (PVP group, n=50). The operation time, intraoperative blood loss, length of hospital stay, excellent rate of bone cement distribution at postoperative 1 day, and leakage rate of bone cement were compared between the two groups. In addition, anterior height ratio of the injured vertebrae, upper and lower Cobb angle, visual analogue scale (VAS), and Oswestry dysfunction index (ODI) were measured preoperatively and at postoperative 24 hours and 3 months. Results:All patients were followed up for 3-4 months [(3.0±0.6)months]. There were no significant differences in the operation time, intraoperative blood loss, and length of hospital stay between the two groups (all P>0.05). At postoperative 1 day, the excellent rate of bone cement distribution was 100% in PCKP group (excellent in 13 patients, good in seven, poor in zero), significantly higher than 82% in PVP group (excellent 21 patients, good in 20, and poor in nine). The leakage rate of bone cement was 0%(0/20) in PCKP group, lower than 20% (10/50) in PVP group ( P<0.05). There were no significant differences in the anterior height ratio of injured vertebrae, upper Cobb angle, lower Cobb angle, VAS and ODI between the two groups before operation (all P>0.05). At postoperative 1 day, PCKP group showed significantly higher anterior height ratio of injured vertebrae and significantly lower upper Cobb angle, lower Cobb angle, VAS, and ODI than those in PVP group ( P<0.05 or 0.01). At postoperative 3 months, PCKP group still showed significantly higher anterior height ratio of injured vertebrae and significantly lower upper Cobb angle and lower Cobb angle than those in PVP group ( P<0.05 or 0.01), but there was no significant difference in VAS and ODI between the two groups (all P>0.05). In PCKP group, the anterior height ratio of the injured vertebrae was significantly increased and the upper Cobb angle, lower Cobb angle, VAS, and ODI index were significantly decreased at postoperative 1 day and 3 months when compared with those before operation (all P<0.05). In PVP group, there were no significant changes in the anterior height ratio of the injured vertebrae, upper Cobb angle, and lower Cobb angle at postoperative 1 day and 3 months when compared with those before operation (all P>0.05), but the VAS and ODI were significantly lowered at postoperative 1 day and 3 months when compared with those before operation (all P<0.05). Conclusion:Compared with PVP, PCKP has better diffusion effect of bone cement in the injured vertebrae and lower incidence of bone cement leakage in the treatment of OVCF, which can effectively promote height recovery of the injured vertebrae, relieve the pain early, and improve spinal function.
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BACKGROUND/OBJECTIVES@#South Korea has been conducting the Sodium Reduction Restaurant Project since 2015 to reduce sodium contents in restaurant menus. The purpose of this study was to analyze changes in the sodium content of menus as determined by the Daegu Sodium Reduction Restaurant Project between 2015 and 2019.MATERIALS/METHODS: Intervention was aimed at reducing the sodium contents of over 10% of menu items in participating restaurants. On-site inspections and evaluations were conducted using a checklist, and reductions in sodium contents were determined by analyzing the salinities and sodium contents of menus after intervention. @*RESULTS@#Post-intervention salinities and sodium contents were significantly lower than baseline values in 2016 (P < 0.001), 2017 (P < 0.001), 2018 (P < 0.001), and 2019 (P < 0.001). However, sodium contents and salinities differences before and after intervention were not significant in 2015. Sodium contents of more than 20% of menu items offered by restaurants that participated in the Sodium Reduction Restaurant Project for 2 yrs starting in 2016 declined by 28.9%. On the other hand, the sodium reduction rate achieved by restaurants that participated for 4 yrs from 2015 reached 55.4%. The percentage of restaurants that participated in the project increased annually, though some failed to be designated as Sodium Reduction Restaurants because they did not meet sodium reduction rate requirements. @*CONCLUSIONS@#Positive correlations were found between duration of participation in the project and sodium reduction and designation rates. Sustainable long-term support at the national level is required to expand the project to other regions.
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Objective:To establish an artificial intelligence robot-assisted diagnosis system for fundus diseases based on deep learning optical coherence tomography (OCT) and evaluate its application value.Methods:Diagnostic test studies. From 2016 to 2019, 25 000 OCT images of 25 000 patients treated at the Eye Center of the Second Affiliated Hospital of Zhejiang University School of Medicine were used as training sets and validation sets for the fundus intelligent assisted diagnosis system. Among them, macular epiretinal membrane (MERM), macular edema, macular hole, choroidal neovascularization (CNV), and age-related macular degeneration (AMD) were 5 000 sheets each. The training set and the verification set are 18 124 and 6 876 sheets, respectively. Through the transfer learning Attention ResNet structure algorithm, the OCT image was characterized by lesion identification, the disease feature was extracted by a specific procedure, and the given image was distinguished from other types of disease according to the statistical characteristics of the target lesion. The model algorithms of MERM, macular edema, macular hole, CNV and AMD were initially formed, and the fundus intelligent auxiliary diagnosis system of five models was established. The performance of each model-assisted diagnosis in the fundus intelligent auxiliary diagnostic system was evaluated by applying the subject working characteristic curve, area under the curve (AUC), sensitivity, and specificity.Results:With the intelligent auxiliary diagnosis system, the diagnostic sensitivity of the MERM was 93.5%, the specificity was 99.23%, and AUC was 0.983 7; the diagnostic sensitivity of macular edema was 99.02%, the specificity was 98.17%, and AUC was 0.994 6; the diagnostic sensitivity of macular hole was 98.91%, the specificity was 99.91%, AUC was 0.996 2; the diagnostic sensitivity of CNV was 97.54%, the specificity was 94.71%, AUC was 0.987 5; the diagnostic sensitivity of AMD was 95.12%, the specificity was 97.09%, AUC was 0.985 3.Conclusions:The artificial intelligence robot-assisted diagnosis system for fundus diseases based on deep learning for OCT images has accurate and efficient diagnostic performance for assisting the diagnosis of MERM, macular edema, macular hole, CNV, and AMD.
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OBJECTIVE@#To assess the effectiveness of Jiuwei Zhuhuang Powder (JWZH), a Tibetan patent medicine in treating upper respiratory tract infection (URTI) associated cough in children.@*METHODS@#The study was a multicenter, randomized, open-label, controlled trial. A total of 142 children aged 2 to 14 years old, with URTI-associated cough within 48 h of onset, were randomly assigned to two groups at a 1:1 ratio by computer-generated randomization sequence. Children were treated with JWZH (1 to 1.5 g, twice to thrice daily) in the treatment group or conventional treatment (Pediatric Paracetamol, Artificial Cow-bezoar and Chlorphenamine Maleate Granules, 0.25 to 1 g, thrice daily) in the control group for 5 days. The primary endpoints were the time to cough resolution and 4-day cough resolution rate. The secondary endpoints were the daily improvement in symptom scores and cough resolution rate during the study period.@*RESULTS@#A total of 138 children were included in the intention-to-treat analysis, with 71 cases in the treatment group and 67 cases in the control group. Compared with the conventional treatment, the children receiving JWZH had a shorter time to cough resolution [hazard ratio, 2.10; 95% confidence interval (CI), 1.29-3.40; P=0.003]. The median time to cough resolution for children receiving JWZH was shorter than that of the conventional treatment (2 days vs. 3 days; P<0.001). The 4-day cough resolution rate in the JWZH group was higher than that of the control group (94.4% vs. 74.6%; risk difference: 19.8%, 95% CI: 8.1%-31.5%; relative risk: 1.265, 95% CI: 1.088-1.470; P=0.001). There were no statistically significant differences in the improvement of other symptoms caused by URTI (P>0.05). Adverse events was reported in 5.6% (4/71) and 4.5% (3/67) in participants of JWZH and PPACCM groups (P>0.05), respectively, which were all mild and resolved without treatment.@*CONCLUSION@#JWZH seemed to be a safe and effective therapy for URTI-associated cough in children. (Trial registration No. ChiCTR2000039421).
Subject(s)
Child , Humans , Cough/drug therapy , Drugs, Chinese Herbal , Nonprescription Drugs , Powders , Respiratory Tract Infections/drug therapyABSTRACT
OBJECTIVE@#To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics.@*RESULTS@#The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing.@*CONCLUSION@#The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
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Child , Humans , Abnormalities, Multiple/genetics , Autism Spectrum Disorder/genetics , Autistic Disorder/genetics , Heterozygote , Homeodomain Proteins/genetics , Intellectual Disability/genetics , Mutation , Nerve Tissue Proteins/genetics , Rare DiseasesABSTRACT
OBJECTIVE@#To investigate the serum microRNA (miRNA) expression and examine the impact of miRNA expression profiles on T helper type 17 (Th17)/regulatory T cells (Treg) imbalance among patients with cystic echinococcosis, so as to provide insights into the illustration of the mechanisms underlying chronic Echinococcus granulosus infections, and long-term pathogenesis.@*METHODS@#Total RNA was extracted from the sera of cystic echinococcosis patients and healthy controls, and subjected to high-throughput sequencing with the Illumina sequencing platform. Known miRNAs were annotated and new miRNAs were predicted using the miRBase database and the miRDeep2 tool, and differentially expressed miRNAs were identified. The target genes of differentially expressed miRNAs were predicted using the software miRanda and TargetScan, and the intersection was selected for Gene Ontology (GO) enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis. Among the differentially expressed miRNAs with the 20 highest fold changes, miRNAs that targeted genes relating to key transcription factors RORC and FOXP3 that determine the production of Th17 and Treg cells or their important regulatory pathways (PI3K-Akt and mTOR pathways) were matched.@*RESULTS@#A total of 53 differentially expressed miRNAs were screened in sera of cystic echinococcosis patients and healthy controls, including 47 up-regulated miRNAs and 6 down-regulated miRNAs. GO enrichment analysis showed that these differentially expressed miRNA were involved DNA transcription and translation, cell components, cell morphology, neurodevelopment and metabolic decomposition, and KEGG pathway analysis showed that the differentially expressed miRNA were mainly involved in MAPK, PI3K-Akt and mTOR signaling pathways. Among the differentially expressed miRNAs with the 20 highest fold changes, there were 3 miRNAs that had a potential for target regulation of RORC, and 15 miRNAs that had a potential to target the PI3K-Akt and mTOR signaling pathways.@*CONCLUSIONS@#Significant changes are found in serum miRNA expression profiles among patients with E. granulosus infections, and differentially expressed miRNAs may lead to Th17/Treg imbalance through targeting the key transcription factors of Th17/Treg or PI3K-Akt and mTOR pathways, which facilitates the long-term parasitism of E. granulosus in hosts and causes a chronic disease.
Subject(s)
Humans , Echinococcosis/genetics , Gene Expression Profiling , MicroRNAs/metabolism , Phosphatidylinositol 3-Kinases/genetics , Proto-Oncogene Proteins c-akt/genetics , T-Lymphocytes, Regulatory , TOR Serine-Threonine Kinases/genetics , Th17 Cells , Transcription Factors/geneticsABSTRACT
Objective:To investigate the role of Nogo-B in mitochondrial reactive oxygen species(m-ROS)production and vascular remodeling in vascular smooth muscle cells(VSMCs), and to further clarify the molecular mechanism for Nogo-B in m-ROS production via regulating ATP synthase expression.Methods:A mouse model of vascular remodeling was established.The expression of Nogo-B in mouse smooth muscle cells was detected.Forty mice were divided into the AAV-NC+ control, AAV-NC+ angiotensin Ⅱ(AngⅡ), AAV-Nogo-B+ control and AAV-Nogo-B+ AngⅡ groups(n=10 for each group). VSMCs cultured in vitro were divided into the control group and the Nogo-B overexpression group(Ad-Nogo-B). The expression of Nogo-B in VSMCs in vitro stimulated with AngⅡ was detected.Through experiments conducted in vivo, Nogo-B was overexpressed in VSMCs, then VSMCs were stimulated with AngⅡ, and m-ROS production, tissue fibrosis and mitochondrial function were examined.The regulatory effects of Nogo-B on m-ROS production were explored.Molecular mechanisms for NoGO-B in vascular remodeling via regulating ATP synthase/m-ROS production were examined. Results:Compared with the control group, the expression of Nogo-B was decreased in VSMCs treated with AngⅡ(0.36±0.13 vs.1.00±0.13, t=8.44, P<0.05). The production of m-ROS, fibrosis and mitochondrial dysfunction were increased in VSMCs during vascular remodeling( P<0.05), while overexpression of Nogo-B significantly reduced m-ROS production, fibrosis and mitochondrial dysfunction( P<0.05). ATP synthase expression in VSMCs was positively regulated by Nogo-B.ATP synthase expression was higher in the AAV-Nogo-B+ AngⅡ group than in the AAV-NC+ AngⅡ group(0.86±0.14 vs.0.49±0.17, t=-3.97, P<0.05). The production of m-ROS was reduced by Nogo-B and was lower in the AAV-Nogo-B+ AngⅡ group than in the AAV-NC+ AngⅡ group(1.28±0.34 vs.3.26±0.57, t=7.18, P<0.05). Meanwhile, the ability of Nogo-B to mitigate the deleterious effects of oxidative stress in VSMCs could be offset by oligomycin. Conclusions:Nogo-B participates in vascular remodeling by regulating ATP synthase-mediated m-ROS production.
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Antibody-drug conjugates (ADCs) are one of the most important classes of anticancer therapeutics. Human epidermal growth factor receptor-2 (HER2), which is highly expressed in many types of aggressive cancers including breast and ovarian cancer, has been approved as an ideal target for ADCs. Lidamycin (LDM), developed by Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences, is an enediyne-containing antibiotic with potent anti-tumor activity. LDM is a promising payload for ADCs. In the present research, using a special site-directed conjugating technology, we made a novel ADC (607-LDM) with a drug-to-antibody ratio (DAR) of 2 and composed of the anti-HER2 antibody 607 and LDM. The new ADC exhibited potent antitumor activity against human ovarian cancer SKOV3 and breast cancer BT-474 cells. It also induced apoptosis and G2/M arrest. In nude mice with SKOV3 xenografts and a tumor volume of 150-200 mm3, a single intravenous injection 607-LDM at 1 mg·kg-1 induced tumor growth inhibition of 72.4%, which was significant compared to either LDM (50.6%) or antibody (30.2%) treatment alone, or both in combination (50.1%, P < 0.05). All animal experiments were performed in accord with National Regulations and approved by the Animal Experiments Ethical Committee of College of Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences. The novel ADC designed in this study, 607-LDM, is a promising candidate for the treatment of HER2-positive cancers.
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BACKGROUND@#It remains unclear whether the outcomes of ST-elevation myocardial infarction (STEMI) patients treated with primary percutaneous coronary intervention (PPCI) during off-hours are as favorable as those treated during on-hours, especially those with a first medical contact-to-device (FMC-to-device) time within 90 min. We aimed to determine whether off-hours admission impacted late outcomes in patients undergoing PPCI and with an FMC-to-device time ≤90 min.@*METHODS@#This multicenter retrospective study included 670 STEMI patients who underwent successful PPCI and had an FMC-to-device time ≤90 min from 19 chest pain centers in Beijing from January 2018 to December 2018. Patients were divided into on-hours group and off-hours group based on their arrival time. Baseline characteristics, clinical data, and key time intervals during treatment were collected from the Quality Control & Improvement Center of Cardiovascular Intervention of Beijing by the "Heart and Brain Green Channel" app.@*RESULTS@#Overall, the median age of the patients was 58.8 years and 19.9% (133/670) were female. Of these, 296 (44.2%) patients underwent PPCI during on-hours and 374 (55.8%) patients underwent PPCI during off-hours. Compared with the on-hours group, the off-hours group had a longer FMC-to-device time and fewer patients with FMC-to-device time ≤60 min (P 0.05). According to the Cox regression analyses, off-hours admission was not a predictor of 2-year MACEs (P = 0.788). Similarly, the Kaplan-Meier curves showed that the risks of a MACE, all-cause death, reinfarction, and target vessel revascularization were not significantly different between the two groups (P > 0.05).@*CONCLUSIONS@#This real-world, multicenter retrospective study demonstrated that for STEMI patients who underwent PPCI within 90 min, off-hours admission was safe, with no difference in the risk of 2-year MACEs compared with those with on-hours admission.
Subject(s)
Female , Humans , Middle Aged , Beijing , Percutaneous Coronary Intervention , Retrospective Studies , Risk Factors , ST Elevation Myocardial Infarction/surgery , Treatment OutcomeABSTRACT
Objective To establish quantitative methods to assay quercetin in Honghuixiang injection by HPLC. Methods Dikma C18 column(250 mm×4.6 mm, 5 μm) was used for the assay with acetonitrile −0.1% phosphoric acid (25∶75) as the mobile phase. Flow rate was 1.0 ml/min. The column temperature was 30 ℃. The detection wavelength was at 256 nm. Results Quercetin showed good linear relationship within the range of 0.2150–3.225 μg. The correlation coefficient was 0.999 6. The average recovery was 99.39% with RSD 0.82% (n=6). The repeatability was 1.194 mg/ml with RSD 0.40%. Conclusion The average quercetin content in three batches of Honghuixiang injection was 1.191 mg/ml. This method is simple, rapid and accurate. It can be used for the determination of quercetin in Honghuixiang injection.
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OBJECTIVE@#To explore the genetic basis for a child featuring global developmental delay.@*METHODS@#DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.@*CONCLUSION@#The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Subject(s)
Child , Humans , Arthrogryposis , Family , GTP-Binding Protein beta Subunits , Heterozygote , Intellectual Disability/genetics , Exome SequencingABSTRACT
Objective:To make the early clinical antibiotic regimen by finding out the infection of corynebacterium in the pus of patients with granulomatous mastitis in the early stage.Methods:A total of 42 patients who were diagnosed and treated in the Breast Center of Guangdong Maternal and Child Health Hospital from Jun. 2016 to Mar. 2017 with complete follow-up data were retrospectively analyzed. PCR method was used to detect corynebacterium in the patients’ pus. Patients in the positive group were treated with antibiotics alone, antibiotics + hormones and hormones alone, while patients in the negative group were treated with antibiotics + hormones and hormones alone. The postoperative recurrence rate and cure rate of different groups of patients were observed.Results:The antibiotic regimen for granulomatous mastitis in patients with corynebacterium infection included a combination of short-acting levofloxacin and azithromycin and long-acting anti-mycobacterium drugs. Among the 42 patients in the subgroup, 21 patients were confirmed positive for corynebacterium by PCR detection of pus, and the postoperative recurrence rate was 23.5%. There was a statistically significant difference between the antibiotic group, the antibiotic + hormone group and the hormone group in treatment of granulomatous mastitis infected with corynebacterium ( χ2=5.494, P=0.036) . PCR detection shouwed corynebacterium negative in 21 cases, and postoperative recurrence rate of 16.7%. No statistically significant difference in efficacy was found between antibiotic + hormone group and hormone only group for GM patients without bacterial infection ( χ2=1.129, P=0.719) . Conclusion:Early detection of corynebacterium infection in GM patients is significant for clinical guidance of the application of lipophilic antibiotics.
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Objective To explore the effect of mechanical stimulation on polarity of macrophages. Methods RAW264.7 cells were stimulated with tensile stretch at various amplitude and time, then cell viability was assessed with cell count kit-8 (CCK-8) for determining the stimulation parameters. RAW264.7 cells were induced to M1 type, then tensile stretch at 10% amplitude and 2 Hz was applied to M1 cells. CCK-8 and flow cytometry were used to detect the effects of tensile stretch on cell activity and apoptosis. Quantitative real-time polymerase chain reaction (qRT-PCR) was used to detect the effect of tensile stretch on M1 type macrophage related gene expression. Results After stimulation for 3 hours, tensile stretch at 15% or 20% amplitude and 2 Hz significantly inhibited cell viability (P0.05). Tensile stretch at 10% amplitude and 2 Hz neither inhibited viability nor cause apoptosis of M1 type macrophages. The expression of inflammation-related genes including interleukin-1β(IL-1β) and tumor necrosis factor-α (TNF-α) of M1 type macrophages was significantly down-regulated with tensile stretch at 10% amplitude and 2 Hz (P＜0.05). Conclusions Mechanical stimulation at 10% amplitude and 2 Hz can inhibit M1 type macrophages and promote the polarization from M1 to M2. Mechanical stimulation may become a method for treating inflammation-related diseases.
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The emergence of novel coronavirus pneumonia which was named as coronavirus disease 2019 (COVID-19) by the World Health Organization, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has posed a serious threat to public health. Notably, COVID-19 has rapidly spread around the world and large amount of people have been infected. There is imminent need to investigate the pathogenesis of SARS-CoV-2 and develop effective therapeutic strategies to contain the epidemic. The spike (S) protein of SARS-CoV-2 mediates viral entry into target cells, with S1 subunit binding to a cellular receptor and S2 subunit fusing viral and host membranes. Angiotensin-converting enzyme 2 (ACE2), previously known as a cell receptor of severe acute respiratory syndrome coronavirus (SARS-CoV), is putatively responsible for mediating COVID-19. In this review, we detail our current understanding of the interaction between S protein and ACE2 in the process of virus infection and the potential pathogenesis of SARS-CoV-2, which has critical implications for exploring the potential therapeutic strategies for COVID-19.
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The current outbreak of coronavirus disease 2019 (COVID-19) in Wuhan,China,has posed significant threats to international health.By Feb.20,2020,74 576 cases have been confirmed and over 2 118 deaths have reported in the Chinese mainland.Chinese administrations have carried out immediate and prompt measures to stop the spread of the virus.Wuhan city has been shut down since Jan.23,and more than 30 thousand medical workers have been recruited to Hubei province.Two temporary hospitals were constructed to treat severe pneumonia patients,and 15 mobile cabin hospitals were built to treat mild pneumonia cases.Significant improvement regarding the pathogenesis,epidemiology,and diagnosis and therapy for the COVID-19 has been achieved to stop the spread of the epidemics.
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Objective@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*Methods@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*Results@#The proband was found to carry a heterozygous c. 2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*Conclusion@#The heterozygous variant of c. 2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.
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OBJECTIVE@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*METHODS@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*CONCLUSION@#The heterozygous variant of c.2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.
Subject(s)
Humans , Male , Genetic Testing , Heterozygote , Intellectual Disability , Genetics , Mutation , Nedd4 Ubiquitin Protein Ligases , Genetics , Periventricular Nodular Heterotopia , GeneticsABSTRACT
OBJECTIVE@#To explore the genetic basis for a neonate featuring global developmental delay.@*METHODS@#Clinical and laboratory tests were carried out for the patient. Peripheral venous blood samples were collected from the neonate and his parents for the extraction of DNA. Potential variant was detected by using targeted capture and next generation sequencing for a panel of genes associated with nervous system diseases. Suspected variant was validated by Sanger sequencing.@*RESULTS@#The nine-month-old boy manifested global developmental delay and was unstable to sit alone and distinguish strangers from acquaintance. Genetic testing revealed two novel variants of the SLC19A3 gene in him, namely c.448G>A and c.169C>T. The amino acids encoded by the two codons are highly conservative, and both variants were predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The compound heterozygous c.448G>A and c.169C>T variants probably underlay the onset of disease in the patient. Above finding also enriched the variant spectrum of SLC19A3 gene underlying Biotin-thiamine responsive basal ganglia disease.