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OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a consanguineous Chinese pedigree affected with Congenital coagulation factor XII (XII) deficiency.@*METHODS@#Members of the pedigree who had visited Ruian People's Hospital on July 12, 2021 were selected as the study subjects. Clinical data of the pedigree were reviewed. Peripheral venous blood samples were taken from the subjects. Blood coagulation index and genetic testing were carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#This pedigree has comprised 6 individuals from 3 generations, including the proband, his father, mother, wife, sister and son. The proband was a 51-year-old male with kidney stones. Blood coagulation test showed that his activated partial thromboplastin time (APTT) was significantly prolonged, whilst the FXII activity (FXII:C) and FXII antigen (FXII:Ag) were extremely reduced. The FXII:C and FXII:Ag of proband's father, mother, sister and son have all reduced to about half of the lower limit of reference range. Genetic testing revealed that the proband has harbored homozygous missense variant of c.1A>G (p.Arg2Tyr) of the start codon in exon 1 of the F12 gene. Sanger sequencing confirmed that his father, mother, sister and son were all heterozygous for the variant, whilst his wife was of the wild type. By bioinformatic analysis, the variant has not been included in the HGMD database. Prediction with SIFT online software suggested the variant is harmful. Simulation with Swiss-Pbd Viewer v4.0.1 software suggested that the variant has a great impact on the structure of FXII protein. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic.@*CONCLUSION@#The c.1A>G (p.Arg2Tyr) variant of the F12 gene probably underlay the Congenital FXII deficiency in this pedigree. Above finding has further expanded the spectrum of F12 gene variants and provided a reference for clinical diagnosis and genetic counseling for this pedigree.
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Male , Female , Humans , Middle Aged , Factor XII/genetics , Pedigree , Codon, Initiator , East Asian People , Mothers , Factor XII Deficiency/genetics , MutationABSTRACT
Objective To assess the protective effect of the normobaric oxygen (NBO)and hyperbaric oxygen (HBO)on the acute ischemic stroke of rat using MR diffusion weighted imaging (DWI).Methods 30 adult male SD rats were subjected to right middle cerebral artery occlusion (MCAO)model using the suture method and transferred into a MRI scanner at 30 minutes after the onset of MCAO,then 30 rats were randomly divided into 3 groups (n=10 in each group),control,NBO and HBO group.NBO group rats were exposed to 100% oxygen for 2 hours,HBO group rats were administrated with hyperbaric oxygen for 2 hours respectively at 45 minutes after the onset of MCAO.Brain MRI scanner was performed at 12 h after the onset of MCAO,then pathological change of brain tissue was observed with hematoxylin-eosin (HE)staining and compared with DWI-infarct lesion.The relative cerebral infarction area and relative apparent diffusion coefficient (rADC)values of every group were measured on ADC maps.Results High signal intensity on MRI was found in the right cerebral ischemic region on DWI in three groups.The increased rates of the infraction lesion area in both NBO and HBO group were lower than that in control group (P<0.01),however,there was no significant difference between NBO and HBO group (P>0.05).The reduction rates of rADC in NBO and HBO group were significantly less than that in the control group (P<0.01),however,there was no significant difference between NBO and HBO group (P>0.05).HE staining confirmed that the cerebral infraction occured in three groups.There were significant positive correlations of the relative infarction lesion area between HE staining and DWI at 12 h after MCAO in three groups (P<0.01).Conclusion MRI shows that NBO and HBO could reduce the growth rates of cerebral infarction lesion area and the reduction rates of rADC,which proves that NBO and HBO have the neuroprotective effect on acute ischemic stroke of rats.
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OBJECTIVE@#To investigate the abnormalities in regional homogeneity of brain activity in patients with diabetic peripheral neuropathy (DPN) using resting-state functional magnetic resonance imaging (rs-fMRI) and explore the association between brain activity changes and DPN.@*METHODS@#A regional homogeneity (ReHo) approach was used to compare the local synchronization of rs-fMRI signals among 20 patients with painful DPN, 16 patients with painless DPN, and 16 type 2 diabetic patients without DPN (non-DPN group).@*RESULTS@#Compared with the those without DPN, the patients with painful DPN showed high ReHo in the left inferior temporal gyrus and the right central posterior gyrus, and low ReHo in the posterior cingulate gyrus, right inferior parietal gyrus, and the left superior parietal gyrus ( < 0.05);the patients with painless DPN group showed high ReHo in the left inferior temporal gyrus, the right middle temporal gyrus, and the right superior frontal gyrus, and low ReHo in the left thalamus ( < 0.05).No significant differences in ReHo were found between the patients with painful DPN and painless DPN (>0.05).@*CONCLUSIONS@#The patients with DPN have altered ReHo in multiple brain regions and impairment of a default mode network, for which the left temporal gyrus may serve as a functional compensatory brain area. ReHo disturbance in the central right posterior gyrus may play a central role in the pain symptoms associated with painful DPN.
Subject(s)
Humans , Brain , Diagnostic Imaging , Brain Mapping , Methods , Diabetic Neuropathies , Gyrus Cinguli , Diagnostic Imaging , Magnetic Resonance Imaging , Methods , Neuralgia , Temporal Lobe , Diagnostic ImagingABSTRACT
Objective To investigate the role of sLOX?1 and leptin in metabolic syndrome ,glucose and lipid metabolism. Methods 58 patients with metabolic syndrome were included in the study ,with other 35 normal controls as control group. Fasting venous blood samples were collected. ELISA method was used to detect serum sLOX?1 and leptin levels. The related biochemical indicators were tested. Results The sLOX?1 and leptin levels in the metabolic syndrome group were significantly higher than those in the control group(P 0.05). sLOX?1 and leptin levels were positively correlated. They were positively correlated with WAIST,TG,SBP,DBP,and negatively correlated with HDL?C. Leptin and age,FPG also had positive correlation,but sLOX?1 was not correlated with age and FPG. Conclusion sLOX?1 may be able to predict endothelial damage in patients with metabolic syndrome in an early stage. Combined with leptin ,the endothelial dysfunction could be reflected more accurately. They may be the important factors for early diagnosis and risk assessment of metabolic syndrome.
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Objective To investigate the feasibility of Wilms’tumor gene 1 (WT1)-specific CD8+T cells from periph?eral blood for the treatment of breast cancer by detecting the killing activity of WT1 specific CD8+T cells on breast cancer cells. Methods Flow cytometry was used to detect WT1-specific CD8+T cells in the peripheral blood of 20 samples from HLA-A2 seropositive healthy donors, which were isolated by WT1/MHC streptamer magnetic beads and cultured. The func?tion of WT1-specific CD8+ T cells were analysis by cytotoxicity assay. Results Twelve of 20 healthy donors had naive WT1-specific CD8+T-cell frequencies of>0.5%, and 4 of 20 even>1.0%of all CD8+T cells. After positive selection by magnetic cell separation, a purity of up to 80%can be achieved. WT1 specific CD8+T cells can specifically kill breast can?cer cell line with WT1 polypeptide. Conclusion WT1 specific CD8+T cells can be detected in peripheral blood of healthy volunteers. WT1 specific CD8+T cells have killing effect on breast cancer cells, suggesting the feasibility of adoptive immu?notherapy for breast cancer.
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OBJECTIVE To investigate and analyze hand carrier state of medical staff in Tianjin and the antibiotic resistance of the pathogens.METHODS Bacteria or pathogens were isolated from the samples using a sterilized cotton swab on the whole hand before hand washing or hand disinfection,and drug sensitivity test was performed.RESULTS In 16.72% of all samples(50/299),there were 64 kinds of bacteria or pathogens isolated.A.baumannii,Staphylococcus aureus and A.lwoffii were the most common bacteria,40.6% resistant to more then 3 kinds of drugs.Four Meticillin-resistant S.aureus(MRSA) strains were detected out.CONCLUSIONS The high rate of hand carrying bacteria and resistance in Tianjin should pay attention to.
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Objective To achieve systemic and efficient management of the hospital variety of medical equipment,simplify the day -to -day inspection of work. Methods The software part's development used Delphi7.0 and SQL Sever 2000 separately as the onstage development kit and the backstage database; the hardware part,Anti-metal Mifare1 card as the RFID tag,MSR-100 and HDT-3000 as reader were used. Results Test to the system indicates that in the 0～40 mm scope,both of the readers can accurately read and write the tag which adheres to the metal surface,and almost without direction limit. Conclusion Compared with ordinary data bank administration software,this system not only has the basic function such as data's increase,deletion,revision,preservation,backup and restore and so on,but also realizes information exchange between the electronic tag and the database through the serial port and the corresponding submodule; The handle-reader's application especially makes the complicated daily inspection easy and readily achievable,which improves maintenance efficiency,meets the needs of efficient dynamic medical equipment management.
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Objective To design a multi-signal bio-feedback instrument in order to treat related diseases.Methods Based on the principle of bio-feedback and ARM microprocessor,an instrument was designed which not only feedbacked RSA,EMG,skin thermal and skin conductance;but also provided a relaxation training method through deep breathing.Results The system could finish bio-feedback and relaxation training.Conclusion The instrument is easy to use and possesses powerful functions.It can be used for the treatment of psycho-physiological diseases and some psychoneuroses.
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Objective To study the imaging manifestations of parietal coronary artery and the diagnostic value with 64-slice spiral CT.Methods 1000 patients with clinically suspected coronary heart disease underwent 64-slice spiral CT scan,the images were dealed with curved planar reconstruction and analysed at workstation.Results Parietal coronary arteriae were found in 380 patients,among them,314 cases were at the LAD,32 cases were at the CX,13 cases were at the RCA and multiple arteriae involved in 21cases.Conclusion 64-slice spiral CT coronary angiography is an effective methed in diagnosis of parietal coronary artery.
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Objective To improve the informatization of field clinic for quicker and more effective cure of the wounded and the sick.Methods Making the use of the experiences from many years' application of No.1 Military Medical Project,the digital field clinic was set up based on HIS under the circumstances of wireless network.Results The digital field clinic provided convenience for doctors and nurses,optimized the curing procedure,standardized the material management,improved the curing efficiency,and enlarged the curing scope.Conclusion The digital field clinic facilitates the data transmission of medical nursing and assistant diagnosing photos.During the implementing process,the digital field clinic also provides new ways and ideas for the informatization of medical support of other types.
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Objective To discuss the accuracy of 3DSS three-dimensional scanning system, which was used to reconstruct the 3D digital model of unilateral orbital defect patients. Methods By using 3DSS spectrometer on the case of patients with unilateral orbital defect, the related scan dates of facial structure were collected, and the reconstructed digital models were processed wax pattern by SLS prototyping machine. Results The digital solid model of three-dimensional reconstruction was smooth and complete, and border over the natural. The designed resin prosthesis can be inosculated with the orbital defect tightly and symmetrically. Conclusion To adopt the system can be successfully completed unilateral orbital defect restoration design and production, and ultimately satisfied the clinical requirement of prosthesis production.