Objective To screen the mutations of MYOC gene in a Chinese primary open angle glaucoma (POAG) family from Cbengqing and investigate the relationship between the mutations in MYOC/TIGR gene and POAG.Methods In a large 4-generation glaucoma family, myocilin gene (MYOC) was screened in 39 family members, 8 of which were confirmed patients. Normal controls included 100 normal Chinese subjects.The known mutations of MYOC gene ( including G34C, C136T, G144T, G227A, C624G,G736A, C1009G, A1036G, C1081T, G1099A, G1138A, A1139C, T1430A, C1441A and C1442T) were detected by single strand conformation polymorphism(SSCP) , po]ymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing.Results G227A mutation was detected in 2 POAG patients and 1 asymptomatic patient, but not in the controls.Cl009del mutation was identified in all patients of the pedigree and an offspring member but not in the controls. No other mutations were detected.Since the C1009del mutation was revealed for the first time, a new GenBank number FJ237047 correponding to ACI62293 was applied.Conclusions The G227A mutation is a known site and there is no relationship between G227A mutation and glaucoma. But C1009del may be related to glaucoma which suggests that morbidity could be higher in the relatives of POAG than the controls.

In recent years, high plasma homocysteine ( HHcy ) as an independent risk factor for coronary atherosclerotic heart disease ( CHD) has been widely received clinical attention.Some detection methods and clinical research for patients with CHD are constantly developing.Enzymatic cycling assay, the most commonly used method at present, represents important application value in the aspects of disease occurrence, severity prediction and therapeutic monitoring for CHD.

There are trillions of bacteria in the human′s intestine, these bacteria constitute the largest human microbiota what are called intestinal flora , the intestinal flora participate in or affect the occurrence and development of a variety of diseases with the host as a whole .This review is focused on the relationship between intestinal microbiota and digestive diseases .It is helpful for clinicians to expand their understanding of the pathogenesis of related diseases and to broaden the diagnosis and treatment of diseases by understanding and studying the effects of intestinal microflora on the development of these diseases .

Objective To investigate the clinical significance of procalcitonin(PCT)and serum amyloid A (SAA)in early bacterial infection in preschool children.Methods 67 children with bacterial infection(bacte-rial infection group),62 children with viral infection(viral infection group)and 60 healthy children(healthy control group)were enrolled in this study,latex enhanced turbidimetric immunoassay was used to detect SAA and turbidimetric immunoassay was used to detect the level of PCT,the levels of SAA and PCT and the posi-tive rate were compared among all groups,and the sensitivity,specificity and positive predictive value,negative predictive value and Youden index of SAA and PCT levels.Results The levels of SAA and PCT in the bacte-rial infection group before treatment were significantly higher than those in the viral infection group and the healthy control group(P<0.05),7 days after treatment,the levels of SAA and PCT decreased significantly (P<0.05);the level of PCT in viral infection group was not significantly different from that in healthy control group(P>0.05),but the positive rate of SAA was significantly different from that of the healthy control group(P<0.05).The sensitivity,specificity,positive predictive value and negative predictive value of PCT for early bacterial infection in preschool children were 92.5%,93.5%,93.9%,92.1%,respectively,of the SAA values were 97.0%,59.7%,72.2% and 94.9%,respectively,there were significant differences between the two groups in specificity and positive predictive value(P<0.05).Conclusion Detection of SAA and PCT lev-els was helpful for early diagnosis,differential diagnosis and prognosis of bacterial infection in preschool chil-dren.

To examine the molecular epidemiology of carbapenem-resistant Klebsiella pneumoniae (CRKP) and investigate the horizontal transmission of blaKPC and blaNDM genes for the prevention and treatment of CRKP. A total of 49 clinically isolated CRKP strains were retrospectively analyzed from January to December 2022 at The First Hospital of Hunan University of Chinese Medicine. Phenotypic screening was performed using modified carbapenem inactivation assay (mCIM) and EDTA-carbapenem inactivation assay (eCIM). Polymerase chain reaction (PCR) was utilized to identify carbapenem resistance genes, β-lactamase resistance genes, and virulence genes, while multi-locus sequence analysis (MLST) was employed to assess the homology of CRKP strains. Conjugation experiments were conducted to infer the horizontal transmission mechanism of blaKPC and blaNDM genes. The results showed that the study included 49 CRKP strains, with 44 carrying blaKPC and 8 carrying blaNDM, Three strains were identified as blaKPC+ blaNDM-CRKP. In this study, 28 out of 49 CRKP strains (57.2%) were found to carry virulence genes. Additionally, one CRKP strain tested positive in the string test and was found to carry both Aerobactin and rmpA virulence genes. MLST results revealed a total of 5 ST types, with ST11 being predominant (41/49, 83.7%). Successful conjugation was observed in all 3 blaKPC-CRKP strains, while only 1 out of 3 blaNDM-CRKP strains showed successful conjugation. The transconjugant exhibited significantly reduced susceptibility to imipenem and cephalosporin antibiotics. In conclusion, the resistance mechanism of CRKP in this study is primarily attributed to the production of KPC enzymes, along with the presence of multiple β-lactamase resistance genes. Additionally, there is a local prevalence of hv-CRKP and blaKPC+ blaNDM-CRKP. blaKPC and blaNDM can be horizontally transmitted through plasmids, with varying efficiency among different strains.

To examine the molecular epidemiology of carbapenem-resistant Klebsiella pneumoniae (CRKP) and investigate the horizontal transmission of blaKPC and blaNDM genes for the prevention and treatment of CRKP. A total of 49 clinically isolated CRKP strains were retrospectively analyzed from January to December 2022 at The First Hospital of Hunan University of Chinese Medicine. Phenotypic screening was performed using modified carbapenem inactivation assay (mCIM) and EDTA-carbapenem inactivation assay (eCIM). Polymerase chain reaction (PCR) was utilized to identify carbapenem resistance genes, β-lactamase resistance genes, and virulence genes, while multi-locus sequence analysis (MLST) was employed to assess the homology of CRKP strains. Conjugation experiments were conducted to infer the horizontal transmission mechanism of blaKPC and blaNDM genes. The results showed that the study included 49 CRKP strains, with 44 carrying blaKPC and 8 carrying blaNDM, Three strains were identified as blaKPC+ blaNDM-CRKP. In this study, 28 out of 49 CRKP strains (57.2%) were found to carry virulence genes. Additionally, one CRKP strain tested positive in the string test and was found to carry both Aerobactin and rmpA virulence genes. MLST results revealed a total of 5 ST types, with ST11 being predominant (41/49, 83.7%). Successful conjugation was observed in all 3 blaKPC-CRKP strains, while only 1 out of 3 blaNDM-CRKP strains showed successful conjugation. The transconjugant exhibited significantly reduced susceptibility to imipenem and cephalosporin antibiotics. In conclusion, the resistance mechanism of CRKP in this study is primarily attributed to the production of KPC enzymes, along with the presence of multiple β-lactamase resistance genes. Additionally, there is a local prevalence of hv-CRKP and blaKPC+ blaNDM-CRKP. blaKPC and blaNDM can be horizontally transmitted through plasmids, with varying efficiency among different strains.

Humans ; Severe Acute Respiratory Syndrome ; diagnosis ; therapy