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Objective:To explore the clinical characteristics and genetics of a pedigree with Stargardt disease, and investigate the pathogenicity of ABCA4 (ATP binding cassette subfamily A member 4) gene mutations in Stargardt disease.Methods:The proband was admitted to the Second People′s Hospital of Jinan in May 2021 due to diminution of vision. The proband was diagnosed with Stargardt disease according to the clinical diagnostic criteria of Stargardt disease. Detailed ophthalmological examinations was also performed on family members of the proband. Genomic DNA were extracted from the proband and the family members, and the whole exon sequencing was performed to find pathogenic gene mutations. The hazard of mutations was analyzed by polyphen-2, SIFT and MutationTaster websites. Sanger sequencing was used to verify the mutations. Conserved analysis of homologous species and 3-dimensional (3D) molecular model of the protein were used to analyze the pathogenicity.Results:Ophthalmological examinations showed reduced binocular vision, macular atrophy and "bull′s eye sign" in the proband and there was no abnormal signs and symptoms among the family members. Through whole exon sequencing analysis and Sanger sequencing verification, the compound heterozygous mutations (c.215G>A and c.6563T>C) of ABCA4 gene were co-segregated with this disease in this family. SIFT, Polyphen-2 and MutationTaster predicted that these two mutations were pathogenic. Conservative analysis and 3D molecular model of protein showed that mutations could cause changes in protein structure and affect protein function.Conclusion:The compound heterozygous mutations (C.215G>A and C.6563T>C) of ABCA4 gene are the pathogenic mutations of Stargardt disease in this pedigree.
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Objective In order to know the changes of serum pertussis IgG antibody level and the percent-age of white blood cells and lymphocytes in blood routine of children with IgG antibody positive,it is easy to diagnose and treat according to the clinical symptoms and examination results of children.Methods 485 cases of children in Shangdong Provincial Hospital were randomly enrolled as the test subjects,and pertussis anti-body IgG(PT -IgG)detection and blood cell detection were carried out.Results The levels of Pertussis IgG antibody were positive in 90 cases,the positive rate was 18.6%,pertussis IgG antibody level of children aged 8- <10 years old was the highest,2- <4 years old took the second place,10-14 years old were with the low-est levels.Among the patients with positive pertussis antibody levels,white blood cells in total were more than 20×109/L and lymphocyte percentage reached more than 60% in 19 cases,the positive rate was 21.1%,of which 6- <8 years old the highest positive rate was 10-14,the lowest.Conclusion IgG antibody of pertussis incidence is higher in children under 10 years old,the changes of white blood cells and lymphocytes mainly in children under the age of 8,the general course of the disease can be up to 2-3 months,so the need for early diagnosis and treatment,strengthen the immunity of pertussis vaccine is very necessary for children.
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Objective To verify and valuate the performance of small dense low-density lipoprotein cholesterol (sdLDL-C) detection by the direct clearance method and evaluate its preliminary clinical application in acute coronary syndrome (ACS).Methods Case control study:The performance (accuracy,precision,linearity) of sdLDL-C was assessed by direct clearance method.In 143 cases of ACS patients selected from Cardiology Department and Emergency Department of Shangdong Provincial Hospital from April to October in 2016,with 100 cases male,female 43 cases,including acute myocardial infarction (AMI)group of 59 cases,unstable angina pectoris (UAP) group of 84 cases;83 cases of healthy volunteers as a control group selected from health physical examination center of Shandong Provincial Hospital,with 59cases male,female 24 cases.Levels of sdLDL-C,total cholesterol (TCH),triglyceride (TG),low-density lipoprotein cholesterol (LDL-C),high-density lipoprotein cholesterol (HDL-C),apolipoprotein A (ApoA I),apolipoprotein B (ApoB),lipoprotein (a) (Lpa) and high sensitive C-reactive protein (Hs-CRP) were detected separately by automatic biochemical analyzer.Non high density lipoprotein cholesterol (non-HDL-C) equals TCH minus HDL-C.x2 test,t test,one-way ANOVA,Pearson correlation and multiple linear regression analysis were used as statistical methods.Results The within-lot or between-lot variation was 2.85％ and 3.36％.Methodological comparison:regression equation Y =0.984X + 0.018,r2 =0.966,t =-0.191,P =0.850.There was a good linear correlation (Y =1.026X + 0.007,r2 =0.999) between theoretical values and actual detection results in range of 0.15-2.65 mmol/L.SdLDL-C concentrations were positive correlated with TCH,non-HDL,LDL-C,TG,ApoB (r =0.758,0.848,0.839,0.514,0.885,respectively,P ＜0.01),and negative correlated with HDL-C (r =-0.224,P =0.001),but no correlation with APOA I,Lpa and Hs-CRP(r =-0.021,0.050,0.003,respectively,P ＞ 0.05).Multiple linear regression analysis showed that the factors influencing sdLDL-C level were HDL-C,ApoB,LDL-C and TG.The levels of sdLDL-C,TG in the ACS group were significantly higher than those in the control group (t =3.415,4.660,respectively,P ＜ 0.01),but no difference between the two groups in the levels of TCH,non-HDL-C and LDL-C (t=-1.831,-0.452,-1.398,respectively,P ＞0.05).Comparing AMI group with control group,sdLDL-C,TG and Hs-CRP were significantly higher than the control group (P =0.000,0.000,0.000,respectively),but TCH,LDL-C and non-HDL were similar between the two groups (P =0.800,0.320,0.120,respectively);Comparing UAP group with control group,TG and Hs-CRP were higher than control group (P =0.001,0.047,respectively),TCH and LDL-C were significantly lower than the control group (P =0.003,0.008,respectively),but sdLDL-C had no difference (P =0.305);Comparing AMI group with UAP group,sdLDL-C,TCH,LDL-C and Hs-CRP were significantly higher than UAP group (P =0.000,0.003,0.001,0.000,respectively),and TG were no statistical significance (P =0.473).Conclusions Direct clearance method can meet the requirement of sdLDL-C detection.sdLDL-C level can assess the metabolism of blood lipids and be used as an independent risk factor and predictive index of ACS,superior to LDL-C.
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The relationship between elevated concentration of circulating free fatty acids (FFA) and insulin resistance wag studied,and the pathophysiological mechanism of insulin resistance,especially focused on oxidative stress,was explored.It was found that the elevated circulating FFA level led to insulin resistance in rats, which was partly caused by oxidative stress,and that antioxidative treatment was able to reverse the pathologic change.As a result of enhancing reactive oxygen species production[(886±105 vs 427±42)mmol/L,P<0.05] and disrupting antioxidant[(272±47 vs 561±36)μmol/L,P<0.05],elevated concentration of FFA may induce oxidative stress.
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Objective To investigate the alterations in killer cell immunoglobulin-like receptors (KIRs)2D and their specific HLA-Cw ligands in patients with ankylosing spondylitis(AS)and determine whether the changes were correlate to the pathogenesis of AS.Methods Polymerase chain reaction of sequence specific primerB(PCR-SSP)was employed for genotyping the presence or absence of five KIR2D genes(KIR2DL1,2DS1,KIR2DL2,2DL3,2DS2)as well as HLA-Cw01-08 alleles from genomic DNA in 105 individuals with AS,together with 51 individuals with osteoarthritis(OA)and 120 healthy controls.Then HLA-C10-08 was divided into two groups.HLA-Cwasn and HLA-Cwlys to calculate the frequency of KIRID genotype.HLA-Gu alleles and KIR/HLA-Cw genotypes.Results The frequencies of HLA-Cwlys genes were significandy higher in patients with AS(0.269 7)compared with those in OA controls(0.148 2)and healthy controls(0.138 8,P=0.024,P=0.001,respectively).The frequency of KIR2DS1/HLA-Cwlys combination Was also markedly higher in AS group(26.67%)than that in OA controls(11.76%)and healthy controls(13.33%,P=0.039,P=0.018,respectively).Condusion The data suggest that the HLA-Cwlys allele may be associated with genetic susceptibility to AS and moreover.in the existence of HLA-Cwlys.the individuals with KIR2DS1 gene are likely to be at increased risk of AS.
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0.05).The frequency of Pp genotype of ER? gene was higher in female SLE patients than that in healthy control(P0.05).Conclusion The frequencies of X and P genotype were not significantly increased in Chinese female patients with SLE,but the Pp and ppXx genotype of ER? gene may be associated with the female SLE patients in analysis of restriction enzyme digestion.
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Insulin resistance(IR) is a independent risk factor of ichemic angiopathy .The abnormal state of thrombosis and fibrinolysis is a critical pathology component of IR,and play a vital role in initiating and developing cardiovasculer disease. Under IR state, the,inhancement of plasminogen-activator inhibitior-1(PAI-1)synthesis by adipose tissue and the reduced generation of nitric oxide with endothelial dysfunction contribute to the hypo-fibrinolytic/pro-thrombotic state and promote atherosclerotic. Accompanied with IR developing, when B cell function can't keep normal glycemia, the advanced glycosylation end products(AGEs) are increased as a result of hyperglycemia. AGEs can aggravate endothelial injury and accelerate the course of atherosclerotic. Fully comprehending the pathogenesis of thrombosis and fibrinolysis in IR and taking therapy for the pathology have clinical significance.