ABSTRACT
OBJECTIVE@#To study the clinical phenotype and gene mutation analysis of a hereditary abnormal fibrinogenemia family and explore its molecular pathogenesis.@*METHODS@#The STA-R automatic hemagglutination analyzer to detect the proband and its family members (3 generations of 5 people) of prothrombin time(PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen activity (Fg: C), D-dimer (D-D), fibrinogen and fibrin degradation products (FDPs), plasminogen activity (PLG: A); The plasma levels of Fg: C and fibrinogen (Fg: Ag) were measured by Clauss method and immunoturbidimetry respectively. All exons and flanking sequences of FGA, FGB and FGG genes of fibrinogen were amplified by PCR, and the PCR products were purified and sequenced for gene analysis. The model was analyzed by Swiss software.@*RESULTS@#The PT and APTT of the proband, her mother and sister were slightly prolonged, TT was significantly extend, Fg: C decreased significantly, Fg: Ag, PLG: A, D-D and FDPs are within the normal range; Her brother and daughter of the results are normal. Genetic analysis showed that g.7476 G>A heterozygous missense mutation in exon 8 of FGG gene resulted in mutations in arginine at position 275 of fibrinogen gamma D domain to histidine (Arg275His). Her mother and sister have the same Arg275His heterozygous mutation, brother and daughter for the normal wild type.@*CONCLUSION@#The heterozygous missense mutation of FGG gene Arg275His in patients with hereditary dysfibrinogenemia is associated with a decrease in plasma fibrinogen activity.
Subject(s)
Female , Humans , Male , Afibrinogenemia , Genetics , DNA Mutational Analysis , Fibrinogen , Genetics , Fibrinogens, Abnormal , Genetics , Mutation , PedigreeABSTRACT
This study was aimed to observe the influence on immune function in children with capillary bronchitis byRe-Du-Ning(RDN) injection combined with acupoint sticking, in order to explore the clinical application value of RDN injection combined with acupoint sticking. A total of 64 children with capillary bronchitis treated in the Henan Province Hospital of Traditional Chinese Medicine from October 2012 to August 2014 were randomly divided into two groups. In the control group, conventional treatment, including sputum excretion, oxygen therapy, cough-relieving and phlegm-dissolving, anti-inflammation, antifebrile, panting-relieving and atomization inhalation, was used. In the observation group, RDN injection combined with acupoint sticking of Ru-Yi Jin-Huang (RYJH) powder was used on the basis of treatment of the control group. Observations were made on the clinical therapeutic effects as well as the recovery condition of pulmonary function and immune function in both groups. The results showed that the asthmatic suffocating relieving time, asthmatic suffocating, cough, antifebrile, dry rale and wet rale disappearing time, hospitalization days of the observation group were less than those of the control group with significant inter-group difference (t = 4.346, 5.301, 4.445, 2.238, 4.116, 3.733, 3.681,P 0.05). There were no statistical differences on the pretreatment RR, VT, FRC, VPEF/VE, tPTEF/tE, Reff in both groups (P > 0.05);the posttreatment RR, VT, VPEF/VE, tPTEF/tE were obviously higher than those of the pretreatment; FRC and Reff were obviously decreased compared with those of the pretreatment (P 0.05). There were no significant differences on the pretreatment T lymphocyte subsets, which included CD3+, CD4+ and CD8+ T lymphocyte (P > 0.05). The posttreatment CD3+ and CD4+ were higher than those of pretreatment; CD8+ was lower than that of pretreatment in both groups with significant difference (P 0.05). The posttreatment IgG, IgA, IgM and IGF-1 were higher than those of the pretreatment; IgE was lower than that of the pretreatment with significant difference (P < 0.05). The posttreatment IgG, IgA, IgM and IGF-1 of the observation group were higher than those of the control group;IgE was lower than that of the control group with significant inter-group difference (P < 0.05). It was concluded that on the basis of conventional modern medicine treatment, the RDN injection combined with acupoint sticking can improve the clinical symptoms and pulmonary function, boost immune function in children with capillary bronchitis.
ABSTRACT
<p><b>OBJECTIVE</b>The purpose of this study is to analyze the incidence and the type of the bifid mandibular canal (BMC) by using cone beam computed tomography (CBCT) images.</p><p><b>METHODS</b>A total of 216 patients (104 female and 112 male) who underwent CBCT were included in this study. The CBCT images were evaluated for the incidence and the type of the BMC.</p><p><b>RESULTS</b>BMC was observed in 39 (18.06%) of 216 patients and 50 (11.57%) of 432 sides, female 18 (17.31 %) and male 21 (18.75%). BMC were classified into four types: type I 17 sides (3.94%), type II 11 sides (2.55%), type III 20 sides (4.63%), and type IV 2 sides (0.46%).</p><p><b>CONCLUSION</b>BMC is detected at a high rate by using CBCT. When doctors perform surgical procedures in the mandible, they should pay attention to the anatomical variations of BMC of the mandibular canals.</p>
Subject(s)
Female , Humans , Male , Cone-Beam Computed Tomography , Incidence , Mandible , PathologyABSTRACT
Objective To study the predictability, stability and safety of laser in situ keratomileusis (LASIK) for myopia.Methods Five hundred and Sixty-five eyes ( 293 patients ) were treated with the SCMD corneal shaper and laser sight Compak - 200 excimer laser and followed up for more than 6 months. These eyes were divided into 4 groups according to the degrees of myopia: Group Ⅰ:-1.50～-5.75D,120 eyes; Group Ⅱ:-6.00～-9.75D,230 eyes; Group Ⅲ:-10.00～-14.75D,148 eyes and croup Ⅳ:-15.00～-26.00D,67 eyes.Results Six months post-operatively, mean uncorrected visual acuity of each group was 1.15±0.20, 0.92±0.22, 0.69±0.24 and 0.44±0.22 respectively; The uncorrected visual acuity of 0.5 or better was 100%, 94.6%, 85.8% and 47.7% respectively; And 1.0 or better was 91.7%, 56.7%, 18.0% , 0% respectively. Mean spherical equivalent of each group was -0.14D±0.61D, -0.43D±1.20D, -0.57D±1.47D and -1.79D±2.57D respectively. There were no serious complications. Conclusion LASIK is an effective and safe method for reducing myopia. But the potential complications should be noticed.