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ObjectiveMolecular docking plays a critical role in predicting binding modes and affinity between molecules, serving as a pivotal method in structural biology and computer-aided drug design research. Our research team has recently developed a novel template-based docking method called FitDock, which outperforms commonly used molecular docking methods in terms of accuracy and speed, particularly when approximate protein-ligand templates are available. To enhance the accessibility of the FitDock method and promote its broader application in the field of molecular simulation, the development of a graphical software tool is imperative. MethodsUtilizing Python-based graphical programming, we have created FitDockApp, a plugin software for the molecular visualization software PyMOL. ResultsFitDockApp enables template-based molecular docking and ligand structure alignment through an interactive graphical interface, providing real-time visualization of predicted three-dimensional structures. It also offers the convenience of uploading docking files to a laboratory server to obtain the optimal template. Additionally, FitDockApp includes batch docking functionality. ConclusionFitDockApp simplifies the docking process through its user-friendly interface and provides robust functionality to assist researchers in obtaining precise docking results. FitDockApp is a free software compatible with both Windows and Linux systems and can be downloaded from http://cao.labshare.cn/fitdock/.
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INTRODUCTION@#It remains unclear which advanced airway device has better placement success and fewer adverse events in out-of-hospital cardiac arrests (OHCAs). This study aimed to evaluate the efficacy of the VBM laryngeal tube (LT) against the laryngeal mask airway (LMA) in OHCAs managed by emergency ambulances in Singapore.@*METHODS@#This was a real-world, prospective, cluster-randomised crossover study. All OHCA patients above 13 years of age who were suitable for resuscitation were randomised to receive either LT or LMA. The primary outcome was placement success. Per-protocol analysis was performed, and the association between outcomes and airway device group was compared using multivariate binomial logistic regression analysis.@*RESULTS@#Of 965 patients with OHCAs from March 2016 to January 2018, 905 met the inclusion criteria, of whom 502 (55.5%) were randomised to receive LT while 403 (44.5%) were randomised to receive LMA. Only 174 patients in the LT group actually received the device owing to noncompliance. Placement success rate for LT was lower than for LMA (adjusted odds ratio [OR] 0.52, 95% confidence interval [CI] 0.31-0.90). Complications were more likely when using LT (OR 2.82,0 95% CI 1.64-4.86). Adjusted OR for prehospital return of spontaneous circulation (ROSC) was similar in both groups. A modified intention-to-treat analysis showed similar outcomes to the per-protocol analysis between the groups.@*CONCLUSION@#LT was associated with poorer placement success and higher complication rates than LMA. The likelihood of prehospital ROSC was similar between the two groups. Familiarity bias and a low compliance rate to LT were the main limitations of this study.
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Humans , Allied Health Personnel , Intubation, Intratracheal , Laryngeal Masks , Out-of-Hospital Cardiac Arrest/therapy , Prospective Studies , SingaporeABSTRACT
INTRODUCTION@#Treatment of pain is an important component of prehospital care. Inhalational analgesia agents have attractive strengths, but there is a paucity of studies comparing these with more conventional agents. We aimed to compare inhalational methoxyflurane and intramuscular (IM) tramadol as first-contact analgesia in the Singapore national ambulance service.@*METHODS@#Ambulances were randomised to carry either methoxyflurane or IM tramadol for the first six months and crossed over to the other arm after six months. Patients aged ≥ 16 years, with acute pain arising from musculoskeletal trauma with Numerical Rating Scale (NRS) score ≥ 3 were enrolled. Variables included NRS reduction, time variables, adverse effects, Ramsay Sedation Scores, and patient and paramedic satisfaction scores on a Likert scale.@*RESULTS@#A total of 369 patients were enrolled into this study, but 26 patients were excluded due to missing data. The methoxyflurane arm had a shorter median time taken from arrival at the scene to drug administration (9.0 [interquartile range 6.0-14.0] minutes vs. 11.0 [interquartile range 8.0-15.0] minutes). For patients who achieved reduction in NRS ≥ 3 within 20 minutes, those in the methoxyflurane arm took a shorter time. However, the methoxyflurane (46.7%) arm experienced lower proportion of patients not achieving NRS reduction ≥ 3 when compared to the tramadol (71.6%) arm after over 20 minutes. The methoxyflurane arm had significantly higher paramedic and patient satisfaction scores.@*CONCLUSION@#For the doses of medication used in this implementation study, methoxyflurane was superior in efficacy, speed of onset and administration, but had more minor adverse effects when compared to IM tramadol.
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As a Ginkgo biloba extract preparation, shuxuening injection has a unique advantage in the prevention and treatment of acute and subacute stroke, but its main active ingredient is still unclear. Using a subacute model of stroke in mice constructed earlier, we further explored the contribution and mechanism of the two main components of total ginkgo flavonol glycosides and total ginkgolides in facilitating the neurofunctional recovery in stroke-induced mice. The pharmacodynamics was mainly evaluated by neurobehavioral changes, cerebral infarction volume, blood-brain barrier permeability and brain edema. The pathway and targets were predicted by transcriptome and network pharmacology. Finally, the mechanism was verified at the mRNA and protein levels. The results showed that the beneficial effect of total ginkgolides was greater than that of total ginkgo flavonol glycosides in both the pharmacodynamics and the regulatory mechanism of granulocyte adhesion and diapedesis involving granulocyte colony-stimulating factor (G-CSF), macrophage-1 antigen (MAC-1) and E-selectin. These findings suggest that shuxuening injection may improve the prognosis for mice with subacute stroke by down-regulating G-CSF-mediated granulocyte adhesion and diapedesis pathway mainly through the total ginkgolide components. This finding is expected to provide reference for optimizing prescription and searching for natural drugs for targeting the treatment of ischemic stroke prognosis. The animal experiments in this study followed the regulations of Animal Ethics Committee of Tianjin University of Traditional Chinese Medicine.
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Objective To study the biological properties of microRNA (miRNA) -21 expression in esophageal squamous cell carcinoma. Methods MiRNA-21 sense expression vector, miRNA-21 empty vector and miRNA-21 inhibitor were transfected and detected by fluorescence Real-time PCR. The normal cells of esophageal squamous cell carcinoma TE-1 were used as the control group, and the transfection result were detected. The cell proliferation activity was detected by cell counting kit-8(CCK-8), and the apoptosis ability was detected by flow cytometry. The invasion ability and migration ability of TE-1 cells were observed by Transwell chamber and scratch test. Changes in the sensitivity of TE-1 cells to radiotherapy were observed by colony formation experiments. The data were analyzed using SPSS 19. 0 software. Results The result of Real-time PCR showed that the expression level of miRNA-21 in TE-1 cells was significantly decreased after transfected with miRNA-21 inhibitor (P<0. 05). Compared with the normal cell growth group, positive control group and negative control group, the proliferation of TE-1 cells was reduced and apoptosis was accelerated after transfection with miRNA-21 inhibitor (P<0. 05). In addition, the ability of cell invasion and migration in the experimental inhibition group was decreased. Clone formation assays showed that inhibition of miRNA-21 expression significantly increased the sensitivity of TE-1 cells to radiation. Conclusion Down-regulation of miRNA-21 reduces the proliferation, invasion, migration and sensitivity of radiotherapy in esophageal squamous cell carcinoma TE-1 cells, and is a potential target for the future treatment of esophageal cancer.
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OBJECTIVE@#In Singapore, the use of traditional Chinese medicine (TCM) alongside Western medicine (WM) is common. There are risks of adverse herb-drug interactions when taken concurrently. Current literature suggests that TCM use is not regularly reported to WM doctors in Singapore, but the underlying reasons are not understood.@*METHODS@#A cross-sectional study was conducted across Singapore by administering questionnaires to TCM-using patients and WM-practising general practitioners (GPs). The questionnaire examined the following themes: (1) demographics and TCM use pattern; (2) respondents' (patients and GPs) knowledge and beliefs about TCM and the factors influencing the discussion of TCM during the WM consultation; and (3) respondents' qualitative suggestions to increase disclosure rate.@*RESULTS@#A total of 484 patients and 334 GPs were surveyed. Factors associated with patients' initiation of TCM discussion include length of consultation (odds ratio [OR]: 2.1; P < 0.001), comfort level in discussing TCM (OR: 1.6; P < 0.001) and belief in importance of discussion (OR: 1.4; P = 0.017). Doctor's initiation of discussion (74%) was the top patient-ranked factor influencing their discussion of TCM. For doctors, knowledge of TCM indications (OR: 2.2; P < 0.001), belief in importance of discussion (OR: 2.1; P < 0.001) and comfort level in discussing TCM (OR: 1.9; P = 0.001) were associated with their initiation of TCM use discussion. Possible WM-TCM interactions (58%) was the top doctor-ranked factor influencing their discussion of TCM.@*CONCLUSION@#The discussion of TCM in a WM setting is multifactorial. Interventions include doctors' active screening for TCM use in patients and equipping doctors with TCM knowledge. Improving communication between patients and doctors is key to avoiding harmful herb-drug interactions.
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[Objective] To investigate the safety and associated factor of external cephalic version (ECV) in third trimester,and to enrich clinical experience to improve the successful rate and lower cesarean section (CS) rate.[Methods] 80 pregnant women conducting ECV in third trimester in the third affiliated hospital of Sun Yat-sen University from September 2015 to July 2017 were enrolled in our study.Divided to successful group and failing group,we compared the clinical characters and pregnancy outcomes.[Results] Of the 80 pregnancy,48 women (60.0％) succeed with cephalic presentation.Compared to the failing group,the successful group is statistically different in parity,BMI and amniotic fluid depth.In the failing group,all women underwent CS with 3/48 in successful group.No women conducted ECV complicated fetal distress and emergency CS,premature rupture of membranes complicated in 11 (13.8％) cases in all women.[Conclusions] ECV is safe for mother and fetus.Encouraging the suitable pregnancy women to conduct ECV and enhancing clinical skills can improve ECV success rate.
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In this study, the anti-inflammatory mechanism of Ginkgo biloba extract 50 (GBE50) and its mechanism of action on NLRP3 inflammatory corpuscles were observed by primary microglia cells. LPS/ATP was used to stimulate microglia, and the best time for stimulation and optimal concentration of GBE50 were screened. Pro-inflammatory cytokine IL-1 and TNF-α was determined by ELISA. Western blot was performed to observe the protein expression of NLRP3, ASC, caspase-1 and IL-1 in cultured primary rat microglia. Effect of GBE50 on NLRP3 inflammatory corpuscle aggregation was detected by CO-IP. GBE50 (10 mg·L⁻¹) preconditioning could significantly inhibit the expression of LPS (100 μg·L⁻¹,12 h), ATP (5 mmol·L⁻¹, 30 min) induced primary microglia corpuscle associated protein, inflammatory corpuscle aggregation, and the release of inflammatory factors IL-6 and TNF-α. These results indicated that GBE50 could inhibit the secretion of inflammatory factors after microglia activation, which is related to down regulating the protein expression and activity of NLRP3 inflammatory corpuscle.
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Objective To observe the changes of rat microglial inflammation and migration after exposure to sodium metavanadate(NaVO3·2H2O), and to analyze the possible mechanisms of vanadium neurotoxicity. Methods Primary cultured rat microglial cells were incubated with NaVO3·2H2 O. Morphological changes and the Iba1 expression of microglia were tested by immunofluorescence assay. iNOS, Cox-2, ERK and p-ERK protein expressions were determined by western blotting. The levels of TNF-α and IL-1β in the culture medium were tested by enzyme-linked immunosorbent assay. The migration of microglia was tested by immunofluorescence staining using wound-healing assay. Results Microglia changed from resting state with ramous shape to round shape in activated state after NaVO3·2H2 O exposure, and the expression of Iba1 increased obviously. The protein expressions of iNOS and COX-2 increased significantly compared with the control. The levels of TNF-αand IL-1βwere also increased significantly. NaVO3·2H2 O promotes the migration of microglia through ERK pathway. Conclusions Exposure to NaVO3·2H2 O promotes primary cultured rat microglial inflammation and migration. These results suggest that the inflammatory reaction of microglia may be one of the possible mechanisms of neurotoxicity caused by vanadium exposure.
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Objective To observe the changes of rat microglial inflammation and migration after exposure to sodium metavanadate(NaVO3·2H2O), and to analyze the possible mechanisms of vanadium neurotoxicity. Methods Primary cultured rat microglial cells were incubated with NaVO3·2H2 O. Morphological changes and the Iba1 expression of microglia were tested by immunofluorescence assay. iNOS, Cox-2, ERK and p-ERK protein expressions were determined by western blotting. The levels of TNF-α and IL-1β in the culture medium were tested by enzyme-linked immunosorbent assay. The migration of microglia was tested by immunofluorescence staining using wound-healing assay. Results Microglia changed from resting state with ramous shape to round shape in activated state after NaVO3·2H2 O exposure, and the expression of Iba1 increased obviously. The protein expressions of iNOS and COX-2 increased significantly compared with the control. The levels of TNF-αand IL-1βwere also increased significantly. NaVO3·2H2 O promotes the migration of microglia through ERK pathway. Conclusions Exposure to NaVO3·2H2 O promotes primary cultured rat microglial inflammation and migration. These results suggest that the inflammatory reaction of microglia may be one of the possible mechanisms of neurotoxicity caused by vanadium exposure.
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Objective To develop an emergency clinical laboratory system for civilian and military uses to enhance medical support of filed medical unit for mass casualties.Methods The missions of field medical unit were analyzed in the actual confrontation,and an emergency clinical laboratory system for civilian and military uses was built to fulfill clinical laboratory support.The factors were explored for clinical laboratory examination,and some measures were taken accordingly.Results The requirements of field medical unit were met by the developed system.Conclusion The system can be applied in largescale military exercises to enhance clinical laboratory support ability of field medical unit.
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@#Khat leaves chewing/use, which imparts amphetamine like effects on the user, is widely practiced in parts of Africa, the Arabian Peninsula, and among the diaspora communities from these regions. Basic clinical and epidemiological studies from different settings have reported associations of acute coronary syndrome, heart failure, and cardiomyopathy, with khat chewing /use. This review aims to analyse the current evidence of the impact that khat, or its active constituent, cathinone, has on the cardiovascular system (CVS), particularly in two parameters, heart rate (HR) and blood pressure (BP). Subsequently, the possible mechanism of actions of how khat impacts these cardiovascular parameters is discussed, and different studies’ findings are summarised appropriately. The analysis of literature suggests that khat could influence HR and BP by most likely causing tachycardia and hypertension and the impacts might be dose-dependent and time-dependent. However, most of the studies involved different species and study designs, and had different limitations. Additionally, the underlying mechanisms of khat effects on these CVS parameters remain unclear. Therefore, more studies are needed to further support the current evidence of the impacts that khat has on the CVS parameters of HR and BP.
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Heart Rate , Blood Pressure , ReviewABSTRACT
Chronic high-salt diet-associated renal injury is a key risk factor for the development of hypertension. However, the mechanism by which salt triggers kidney damage is poorly understood. Our study investigated how high salt (HS) intake triggers early renal injury by considering the ‘gut-kidney axis’. We fed mice 2% NaCl in drinking water continuously for 8 weeks to induce early renal injury. We found that the ‘quantitative’ and ‘qualitative’ levels of the intestinal microflora were significantly altered after chronic HS feeding, which indicated the occurrence of enteric dysbiosis. In addition, intestinal immunological gene expression was impaired in mice with HS intake. Gut permeability elevation and enteric bacterial translocation into the kidney were detected after chronic HS feeding. Gut bacteria depletion by non-absorbable antibiotic administration restored HS loading-induced gut leakiness, renal injury and systolic blood pressure elevation. The fecal microbiota from mice fed chronic HS could independently cause gut leakiness and renal injury. Our current work provides a novel insight into the mechanism of HS-induced renal injury by investigating the role of the intestine with enteric bacteria and gut permeability and clearly illustrates that chronic HS loading elicited renal injury and dysfunction that was dependent on the intestine.
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Animals , Mice , Bacteria , Bacterial Translocation , Blood Pressure , Drinking Water , Dysbiosis , Enterobacteriaceae , Gastrointestinal Microbiome , Gene Expression , Hypertension , Intestines , Kidney , Microbiota , Permeability , Risk FactorsABSTRACT
Objective To evaluate the effect of Shunaoxin dropping pills on neuropsychological features of patients with vascular cognitive impairment of none dementia.Methods One hundred and three outpatients with vascular cognitive impairment of none dementia,collected from November 2014 to January 2015,were enrolled in our study;they were divided into two groups:Shunaoxin treatment group (n=50) received Shunaoxin pills and conventional therapy and control group (n=53) received conventional therapy;conventional therapy included anti-platelet therapy (clopidogrel 75 mg once daily),control of pressure (target value=140/90 mmHg) and control of blood fat (atorvastatin 20 mg once daily).Shunaoxin pills (four pills/time for three times per day) were taken orally by the patients from the Shunaoxin treatment group for consecutive three months.Their neuropsychological features were evaluated by Montreal cognitive assessment (MoCA),digital span test (DST),auditory verbal learning test (AVLT),trail making test (TMT),verbal fluency test (VFT) and Stroop test before treatment and 3 months after treatment.Results There were 47 available cases in both two groups,respectively.As compared with control group,Shunaoxin treatment group had significantly increased MoCA total scores,scores of MoCA-language and MoCA-delayed recall,and VLT scores (learning,recall and recognition,P＜0.05),while there were no significant changes in the rest parts of MoCA,TMT,VFT and Stroop test (P＞0.05).Conclusion Based on the therapy of anti-platelet,control of pressure and blood fat,3 months therapy of Shunaoxin dropping pills can improve general cognition,especially in verbal learning,delayed recall and verbal repeat.
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Objective To investigate the association between MPO gene single nucleotide polymorphisms (SNP) loci (rs2333227,-643G/A) and clinical characteristics in Kawasaki disease (KD) in Han population in central China. Methods A case-control study was performed. Two hundred and thirty-seven children with KD and 249 normal children were recruited. The polymorphism distribution of SNP was detected using PCR-RFLP. The clinical data of children with KD were collected. Results The frequency of SNP loci (rs2333227) genotypes (GG, GA, AA) was signiifcantly different between children with KD and normal children (P=0.039), the allele frequency was also signiifcantly different between two groups (P=0.012), and the G allele was the risk factor. Compared with other genotypes, KD children with GG genotype had higher frequency in hand-foot edema (P=0.029). The SNP polymorphism was also associated with peritoneal effusion (P=0.028), however this SNP polymorphism was not associated with conjunctival hyperemia, oral mucosa lesions, and coronary artery lesion (P>0.05), also was not associated to imaging characteristics of hepatomegaly, splenomegaly, and lobular pneumonia (P>0.05). Conclusion The SNP loci (rs2333227) in MPO gene was associated with KD susceptibility, the G allele was a risk factor, and the SNP polymorphisms is associated with some clinical characteristic.
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Proteomics is a powerful subject focusing on large-scale study of protein structures and functions. A complete enzymatic digestion of protein complexes is the key step in modern high-resolution and high-throughput mass spectrometry (MS)-based identification and quantification. To achieve MS analysis, both peptide sample pretreatment and data acquisition are prerequisite in proteomic studies. In this paper, we summarized both the enzymatic proprieties of three common proteolytic enzymes, Trypsin, Lys-C and Glu-C, the optimization of multi-enzyme combination and an advanced sample pretreatment in proteomics research.
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Enzymes , Chemistry , Mass Spectrometry , Proteins , Chemistry , Proteomics , Methods , Trypsin , ChemistryABSTRACT
<p><b>OBJECTIVE</b>To investigate the correlation of CD4CD29regulatory T cells (Treg) with tumor recurrence and survival time in patients with non-small cell lung cancer (NSCLC).</p><p><b>METHODS</b>Fifty-nine patients with NSCLC treated with radical surgery were followed up for 5 years. Blood Treg cells were examined during the follow-up using flow cytometry (FCM). The sensitivity and specificity of Treg cells to predict recurrence of NSCLC were analyzed using receiver-operating characteristic (ROC) curve and compared with those of carcinoembryonic antigen (CEA) and cytokeratin21-1 (Cyfra21-1). The influences of gender, age, occupation and radiotherapy on survival time of the patients were analyzed with Kaplan-Meier method.</p><p><b>RESULTS</b>Among the 59 patients, the shortest survival time was 23 months while the longest time was over 67 months. Nineteen patients had NSCLC recurrence, and 17 (28.81%) of them died of metastasis during the follow-up. The frequencies of blood Treg cells in patients who did not receive radiotherapy and in patients with tumor recurrence were significantly higher than those in patients receiving radiotherapy and in patients free of recurrence (P=0.000). ROC curves showed that the area under curve (AUC) lowered in the order of Treg cells, Cyfra21-1, CEA (P=0.002, 0.006 and 0.013, respectively) with 95% confidence interval (CI) of 0.649-0.981, 0.621-0.936 and 0.584-0.944, respectively. At the cut-off value of 7.53%, the sensitivity and specificity of Treg cells to predict NSCLC recurrence was 91.42% and 87.59%, respectively. The five-year survival rate of the 59 patients was 71.18% (42/59), and Kaplan-Meier analysis revealed a longer survival time in female patients (P=0.038), in patients below 50 years of age (P=0.013), in patients not engaging in mental work (P=0.029), and in patients receiving radiotherapy (P=0.003).</p><p><b>CONCLUSION</b>Treg cells has a better efficiency than Cyfra21-1 and CEA to predict tumor recurrence in patients with NSCLC following radical surgery. The male gender, an age beyond 50 years, an occupation of mental work, and failure to receive radiotherapy are all risk factors for recurrence of NSCLC.</p>
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<p><b>OBJECTIVE</b>To investigate the effects of perfluorocarbon and ligustrazine in protecting the lungs against ischemia-reperfusion injury in rats.</p><p><b>METHDS</b>Forty SD rats with ischemia-reperfusion lung injury were randomized equally into control, ligustrazine, perfluorocarbon, and perfluorocarbon plus ligustrazine groups and received the corresponding treatment via the tail vein 5 min before reperfusion. The lung tissues were harvested and the levels of malondialdehyde (MDA), myeloperoxidase (MPO), superoxide dismutase (SOD) and tumor necrosis factor-α (TNF-α) were detected 3 h after reperfusion. The pathological changes and pathological scores of the lung tissues were analyzed.</p><p><b>RESULTS</b>MDA and MPO levels were significantly lower and SOD activities significantly higher in the lung tissues in the 3 treatment groups than in the control group (P<0.05). The rats in the combined treatment group showed a significantly lower MPO level and a significantly higher SOD activity than those treated with ligustrazine or perfluorocarbon alone (P<0.05). No significant difference was found in TNF-α levels in the lung tissues among the 4 groups (P>0.05). The lung tissues in the control group showed obvious edema and exudation, and the tissues in ligustrazine and perfluorocarbon groups showed no edema but with a few red blood cells and exudation; no edema was found in the combined treatment group with only a small amount of exudation. The pathological scores differed significantly among the 4 groups.</p><p><b>CONCLUSION</b>Perfluorocarbon and ligustrazine, especially in combined use, can promote endogenous oxygen free radical scavenging, decrease peripheral blood proinflammatory cytokines, and inhibit neutrophils filtration in the lungs of rats with ischemia/reperfusion lung injury.</p>
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Animals , Rats , Cytokines , Fluorocarbons , Pharmacology , Lung Injury , Drug Therapy , Malondialdehyde , Metabolism , Peroxidase , Metabolism , Protective Agents , Pharmacology , Pyrazines , Pharmacology , Rats, Sprague-Dawley , Reperfusion Injury , Drug Therapy , Superoxide Dismutase , Metabolism , Tumor Necrosis Factor-alpha , MetabolismABSTRACT
Commensal microorganisms that colonize barrier surfaces of all multicellular organisms exist in harmony with their hosts and have an important effect on both immune and non-immune functions of their hosts. Numerous researches have shown that gastrointestinal microbiota being one of the most important commensal microorganisms plays a critical role in the occurrence, development and treatment of cancer. As-signing causal roles in cancer to specific microbes and microbiotas, unraveling host-microbiota interactions with environmental factors in carcinogenesis, and applying such knowledge to cancer diagnosis and treatment are areas of intensive interest. This review considers how microbes and the microbiota may amplify or miti-gate carcinogenesis, responsiveness to cancer therapeutics, and cancer-associated complications.
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Objective To explore the clinical features of Marfan syndrome (MFS) and its virulence gene mutation of FBN1.Methods Clinical data of 2 children with MFS were retrospectively analyzed, and pertinent literatures were reviewed. Results Case one was a 1 year and 10 months old boy with a special face, bilateral lower eyelid edema, high palatal arch, slender fingers and toes. A little of moist rales in lung could be heard, and systolic accentuated in apex could be heard too. Echocardiography showed that aortic coronary sinus dilated, aorta and pulmonary artery broadened, left ventricular diverticulum, a small amount of mitral regurgitation,and moderate tricuspid regurgitation. Electrocardiogram showed incomplete right bundle branch block. Gene detection found a c.3037G>A mutation (p.Gly1013Arg) inFBN1. Case two was a 12 years old slender boy with spider-like ifnger/toe, high myopia, 2/6 systolic and diastolic murmur in the ifrst and two auscultation area in aortic valves. Echocardiography showed the aortic sinus signiifcantly broadened, aortic incompetence, mild pulmonary regurgitation and left ventricular enlargement. Gene detection found heterozygous mutation of c.1876G>A (p.Gly626Arg) in FBN1, which has not been reported.Conclusion The diagnosis of MFS can be conifrmed byFBN1 gene detection. A new mutation of c.1876G>A (p.Gly626Arg) was detected.