Analysis of the ocular clinical features and pathogenic genes in patients with Alstr?m syndrome / 中华眼底病杂志

Objective:To observe and analyze the ocular clinical features and pathogenic genes of Alstr?m syndrome (ALMS).Methods:A retrospective clinical study. From October 2020 to July 2022, 3 patients and 5 normal family members from 2 families affected with ALMS who visited in the Ophthalmology Department of Henan Children's Hospital were enrolled in the study. These 2 families were without blood relationship. The medical history and family history were inquired. Best corrected visual acuity (BCVA), fundus color photography, full-field electroretinogram (ERG), frequency domain optical coherence tomography (OCT) and systemic examination were performed. 3 ml peripheral venous blood of patients and their family members were collected, and the whole genomic DNA was extracted. The second generation sequencing analysis was performed on these members. The suspected pathogenic mutation sites were verified by Sanger, and the pathogenicity of the gene mutation sites were determined by bioinformatics analysis.Results:Three patients from two families all developed nystagmus and photophobia in infancy. In the family 1, the BCVA of both eyes of the proband was no light perception. The fundus examination revealed vascular attenuation and retinal pigment abnormality. OCT showed retinal thinning, loss of photoreceptor layer and atrophy of the retinal pigment epithelium layer. ERG examination showed extinguished. The BCVA of the proband’s younger brother was 0.04 in the right eye and 0.02 in the left eye. The fundus examination revealed vascular attenuation but the pigment distribution was roughly normal. OCT showed blurred photoreceptor layers in both eyes. ERG examination showed extinguished. Two patients developed sensorineural deafness, obesity, acanthosis nigricans, insulin resistance/diabetes, and abnormal liver function. In addition, the proband also had left heart enlargement, hyperlipidemia and abnormal kidney function. The results of genetic testing showed that the proband and his younger brother had compound heterozygous mutations in exon 8 (c.1894C>T/p.Gln632*, M1) and exon 10 (c.9148_9149delCT/p.Leu 3050 Leufs*9, M2) of ALMS1, which were both known mutations. The father of the proband was a carrier of M1 and the mother of the proband was a carrier of M2. The proband of the family 2 had a normal fundus at 23 months old. The amplitude of ERG b wave under the stimulation of the dark adaptation 0.01 and a, b wave under the stimulation of dark adaptation 0.3 were all mild reduced. The amplitude of ERG a, b wave under the stimulation of the light adaptation 0.3 was severity decreased. At 4 years old, the BCVA was 0.01 in the right eye and 0.05 in the left eye. The fundus examination revealed vascular attenuation and bilateral blunted foveal reflex. In addition to severely diminished of a, b wave under the stimulation of dark adaptation 0.3, the rest showed extinguished. There were no systemic abnormalities. The results of genetic testing showed that the proband had compound heterozygous mutations in exon 11 (c.9627delT/p.Pro3210Glnfs*22, M3) and exon 5 (c.1089delT/p.Asp364Ilefs*13, M4) of ALMS1, which were both novel mutations. The father of the proband was a carrier of M3 and the mother of the proband was a carrier of M4. Conclusions:Nystagmus and photophobia are often the first clinical manifestations of ALMS. In the early stage, the fundus can be basically normal. As the disease progresses, the fundus examination reveals vascular attenuation and retinal pigment abnormality, and the reflection of the fovea is unclear. OCT shows the photoreceptor cell layers are blurred or even lost. The final ERG is extinguished. M1, M2, and M3, M4 compound heterozygous mutations may be the pathogeny for family 1 and family 2, respectively.

Correlation between the Three Single Nucleotide Polymorphisms in Angiotensin Ⅱ Type one Receptor Gene and Coronary Artery Disease / 现代检验医学杂志

Objective To investigate the association between the three single nucleotide polymorphisms (SNP) in angiotensin Ⅱ type one receptor (AT1R) gene with coronary artery disease (CAD) in Chinese Han nationality.Methods Extracted DNA and RNA samples of peripheral blood white cells from 192 CAD patients and 189 healthy individuals in Jan 2011 to Oct 2013 from the general hospital of the PLA Rocket Force.Designed primes and the three SNPs as rs6801836,rs2675511 and rs5182 of AT1R gene were analyzed with allele-specific fluorogenic oligonucleotide probes in an assay combining extension and hybridization.Results The genotype and allele frequencies of the three SNPs were not significantly different between the control group and CAD group (x2 =0.047～2.226,all P＞0.05).The major haplotype constructed with linkaged rs6801836 and rs5182 was TT.The frequency of every haplotypes showed no significantly difference between the two groups (x2 =0.025～1.020,all P＞0.05).Conclusion The three polymorphisms of AT1R gene studied in this work showed no association with CAD susceptibility.

Study on Polymorphisms and Genes Expression Levels ofα-Adducin in Patients with Coronary Artery Disease / 现代检验医学杂志

Objective To investigate the association between single nucleotide polymorphisms (SNP)and expression levels ofα-adducin(ADD1)gene in coronary artery disease (CAD)patients.Methods Extracted DNA and RNA samples of peripher-al blood white cells from 114 CAD patients and 116 healthy individuals in Jan 2011 to Oct 2013 from the General Hospital of the PLA Rocket Force.SNPs of rs3775067 and rs1263359 mutations in the ADD1 gene were analyzed with allele-specific flu-orogenic oligonucleotide probes combining hybridization.The gene expression levels were analyzed with fluorescence labeled and capillary electrophoresis technology.Results The frequencies of the genotypes and alleles of the two SNPs in the ADD1 gene were not significantly different between the two groups (χ2=0.018~1.317,all P>0.05).The ADD1 gene expression levels of CAD group (0.226±0.284)were obviously higher than that of control group (0.153±0.144,P0.05).Conclusion The elevated ADD1 gene expression level would be risk factor for CAD.The polymorphisms of rs3775067 and rs1263359 had no relevance with CAD susceptibility.

The analysis of pathogenic bacterial distribution and drug resistance in Liao Cheng People′s Hospital from 2011 to 2013 / 国际检验医学杂志

Objective To know the distribution of pathogenic bacteria in the hospital ,and to provide scientific evidence for con‐trolling hospital infection and clinical medication .Methods Samples of the hospitalized patients and the data of bacteria culture and isolation in the hospital were collected and statistically analysed retrospectively from January 2011 to December 2013 .Bacterial iden‐tification and drug sensitivity test were carried out by using VITEK 2 Compact automated bacterial identification and drug sensitive system .The clinical distribution and drug resistance characteristics of the strains were analyzed by using WHONET5 .4 and SPSS17 .0 software .Results In the hospital ,71 929 specimens were received from 2011 to 2013 totally ,the detection rate of patho‐genic bacteria was 18 .5% .Sputum(62 .8% ) ,secretions and pus(11 .3% ) ,blood(10 .3% ) were the top three types of specimens which had larger positive numbers .Gram negative bacteria are the main kind of pathogenic bacteria in the hospital ,accounting for 73 .3% .Gram positive bacteria accounted for 25 .0% .E .coli(21 .1% ) ,Pseudomonas aeruginosa(14 .8% ) ,Acinetobacter baumannii (12 .5% ) ,Klebsiella pneumoniae (12 .2% ) and Staphylococcus aureus(11 .04% ) were the top five pathogenic bacteria .The drug resistance of the isolates were as follows .Gram‐negative bacteria showed resistance of different extents to broad‐spectrum penicil‐lins ,quinolones ,cephalosporins except for the 4th generationsand and aminoglycosides .Over 80% Staphylococcus aureus showed re‐sistance to penicillin ,erythromycin and clindamycin ,but the rate to Oxacillin were decreasing year by year .Enterobacteria were still most sensitive to carbapenems with a sensitive rate over 98 .6% .However ,the emergence of Carbapenem‐resistent enterobacteria from 2011 to 2013 was worthy of clinical attention .Conclusion The type of positive specimens were mainly sputum .Gram negative bacteria are the main pathogenic bacteria ,and have obvious multi-drug resistance .E .Coli is the superiority strains ,fungal infection rate are increasing year by year .Doctors and hospital infection controlling department should pay attention to the monitoring of bac‐terial resistance and improve the rational use of antimicrobial drugs .

Research on association of hs-CRP and nonalchonic sulfatide hepatitis / 国际检验医学杂志

fatty liver diseases,but also reflects the severity of hepatic fibrosis in NASH patients.

Efficasy of interferon Alfa-1b combined with lamivndine in the treatment of chronic hepatitis B / 中国基层医药

Objective To study the efficacy of interferon Alfa-lb( IFN?-lb) combined with lamivudine in the treatment of chronic hepatitis B. Methods 103 patients with chronic hepatitis B were divided into three groups which were comparable.30 patients were treated with IFN?-lb for about 6 months;38 patients were treated with lamivudine for about 12 months; And the last 36 patients were treated with IFN?-lb and lamivudine. The serum ALT,HBV-DNA,HBV-Marks were studied using electrochemiluminescence technique,fluorescent quantitation poly-merase chain reaction(PCR) and so on. Results The serum level of ALT,HBV-DNA and HbsAg in patients which were treated with IFN?-lb and lamivudjne showed significantly lower than the other groups(P