Structural characteristics of lower respiratory tract microflora in patients with pneumoconiosis / 中华劳动卫生职业病杂志

Objective: To explore the composition of bacteria in lower respiratory tract of patients with pneumoconiosis and dust exposure, and to compare and analyze the difference and correlation between them. Methods: From May 2020 to January 2021, a prospective multicenter cross-sectional study was conducted to select patients with pneumoconiosis who underwent bronchoalveolar lavage treatment at the Respiratory and Critical Care Medical Department of the 920th Hospital of the Joint Support Force and the Respiratory Department of Tongren Hospital in Kunming, as well as the population of dust recipients. A total of 24 patients with pneumoconiosis (pneumoconiosis group) were included, and 16 dust exposed individuals (dust exposed group) were used as controls. Two groups of patients' alveolar lavage fluid were collected. The 16SrRNA gene V3-V4 sequencing technology and bioinformatics analysis platform were used to measure and analyze the differences in microbial structure composition and associations between bacterial communities. Results: Compared with the dust exposed group, the top 5 bacterial phyla in the alveolar lavage fluid level of patients with pneumoconiosis were the same, followed by Proteobacteria, Firmicutes, Bacteroidetes, Fusobacteria, and Actinobacteria. Compared with the dust exposure group, the pneumoconiosis group patients belong to the top 5 genera of horizontal flora abundance, which are different. The dust exposure group is respectively: Pseudomonas, Proctor, Streptococcus, Achromobacter, and Neisseria. The pneumoconiosis group is respectively: Pseudomonas, Achromobacter, Streptococcus, Ralstonia, and Proctor. The Alpha diversity analysis results showed that compared with the dust exposed group, the level of bacterial diversity in the pneumoconiosis group was difference (P<0.05), and there was no statistically significant difference in bacterial evenness (P>0.05) ; Beta diversity showed differences in microbial community structure between the two groups (P<0.05 ). Single factor microbial association network analysis showed that there was a high correlation between Firmicutes and Bacteroidetes in the pneumoconiosis and dust exposed groups and other species, showing a positive correlation; The correlation between Proteobacteria and other species is high, showing a negative correlation. Conclusion: The structure and relative abundance of bacteria in lower respiratory tract were different between patients with pneumoconiosis and dust exposure, and the diversity of bacteria in lower respiratory tract increased in patients with pneumoconiosis, which may be related to disease status.

Advances in quality research of Cinnamomum cassia / 中国中药杂志

Cinnamomum cassis is one of the commonly used traditional Chinese medicines in China. Its genuine producing areas distribute in Guangdong and Guangxi provinces. As an important edible herb and export variety of China, the quality control and internationalization of quality standards of C. cassis is extremely significant. In the recent years, with the development of the cinnamon industry, relevant academic research and the upgrade of the international standards, it is necessary to summarize the quality-related progress of C. cassis. In the present review, the germplasm resources, specific quality marker(Q-marker) and quality standards of C. cassis were summarized on the basis of published research during the last 10 years.

Off-ladder Alleles Detected by Expressmarker22 Kit in Guangdong Han Population / 中山大学学报(医学科学版)

[Objective]To study the rare alleles frequencies and sequences of Expressmarker 22 kit in Guangdong Han Population.[Methods]3495 Samples from unrelated individuals in Guangdong Han Population were screened by using AGCU Expressmarker 22 kit(EX22)and ABI 3100 Genetic Analyzer. Then analyzed the frequencies of the off-ladder(OL)alleles and sequenced the rare alleles obtained based on comparison with the STRBase database and litera-ture.[Results]33 off-ladder alleles with 25 rare alleles were found in 10 STR loci,and allele frequencies ranged from 0.0003~0.0046. Sequencing of the11unreported rare OL alleles showed that most of them have incomplete repeats.[Conclusion]Off-ladder alleles especially the rare alleles are helpful to improve the power of discrimination and the power of exclusion and to provide samples which will be added its allele into ladders These OL-alleles will supplement forensic DNA database.

Genetic Polymorphisms of SNP Located in the 5' Region of VEGF Gene in Han Population in Guangdong / 法医学杂志

OBJECTIVES@#To investigate the genetic polymorphism of SNP located in the 5' region of the vascular endothelial growth factor （VEGF） gene in Han population in Guangdong and provide basic data for forensic application and population genetics research.@*METHODS@#The genetic polymorphisms of 4 SNP loci （rs699947, rs1570360, rs833061, rs2010963） within 5' region of VEGF gene of 184 unrelated individuals in Han population in Guangdong were analyzed by DNA micro sequencing technology SNaPshot. The statistical analysis was carried out by PowerMarker v3.25 software.@*RESULTS@#The genotype distributions of the 4 SNP loci within 5' region of VEGF gene of 184 unrelated individuals in Han population in Guangdong were in accordance with Hardy-Weinberg equilibrium （P>0.05） and 3 kinds of genotypes were detected from each loci. There was high linkage disequilibrium between the rs833061 and rs699947 SNP loci. Six haplotypes were observed, while the frequency of C-G-T-C, C-G-T-G, A-A-C-G and A-G-C-G were more than 10%, which were the main haplotypes. The discrimination probabilities （DP） of rs699947, rs833061, and rs2010963 loci were between 0.583 and 0.634, with the power of exclusion （PE） between 0.133 and 0.144. The DP and PE of haplotypes of 4 SNP were 0.868 and 0.438, respectively.@*CONCLUSIONS@#There are great polymorphisms in the 5' region of VEGF gene in Han population in Guangdong, which could be used as genetic indexes for individual identification and paternity testing, as well as association analysis of the related diseases.

SNP in Differentially Methylated Region Upstream of H19 Gene in Guangdong Han Population / 法医学杂志

OBJECTIVES@#To investigate the single nucleotide polymorphism （SNP） and haplotypes in differentially methylated region （DMR） upstream of H19 gene in Guangdong Han population.@*METHODS@#The PIA typing and restriction enzyme McrBC and HpaⅡ were used to digest the genomic DNA and obtain the individual uniparental DNA template strand. The data of uniparental SNP alleles, genotypes and haplotypes in DMR upstream of H19 gene were obtained by sequencing.@*RESULTS@#A total of 13 SNPs （rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098） and one mutation locus （g7351c） were found. All loci followed the Hardy-Weinberg equilibrium （P>0.05） by statistical analysis. Except for rs12417375 （DP=0.279） locus, the DP of remaining 12 SNPs were 0.446-0.614, and the g7351c mutation locus （DP=0.013） was the particular loci of the Southern Chinese Han population. Eight haplotypes （designated as haplotype 1-8） were detected, in which 3 haplotypes had not yet been reported and the DP, PIC, PE and H were 0.891, 0.714, 0.524 and 0.758, respectively.@*CONCLUSIONS@#Obtained by PIA typing, the SNP in DMR upstream of H19 gene and its haplotypes genetic marker system have a high determination power and show a good practical value in forensic identification.

Clinical value of cranial MRI in the diagnosis and treatment of central nervous system candidiasis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical value of cranial magnetic resonance imaging (MRI) in the diagnosis and treatment of central nervous system candidiasis (CNSC), which has no specific clinical manifestations and has no rapid and specific diagnostic tools.</p><p><b>METHODS</b>A retrospective analysis was performed on the clinical data of 10 children who were diagnosed with CNSC in Beijing Children's Hospital Affiliated to Capital Medical University between 2009 and 2013.</p><p><b>RESULTS</b>Nine of the 10 children underwent cranial MRI within 8 days after admission, and 5 of the 9 children underwent contrast-enhanced MRI at the same time. Eight of the 9 children showed the features of meningoencephalitis, and 6 cases were accompanied by varying degrees of brain atrophy; one case showed hydrocephalus and cerebral abscess, and another case showed leukoencephalopathy. Six cases were found to have the features of cerebral vasculitis after infection in the first MRI after admission, including cerebral infarction (2 cases), venous sinus thrombosis (3 cases), and Moyamoya disease (1 case). Infectious granulomatous lesions were confirmed by contrast-enhanced MRI in 3 cases. Given the clinical manifestations, 8 of the 9 cases were diagnosed as suspected CNSC after MRI, and 7 of these cases received antifungal therapy before the pathogen test results were returned. The lesions on MRI were improved in 6 cases after 3-4 weeks of antifungal treatment. All the 10 children were diagnosed with CNSC by positive cerebrospinal fluid culture results.</p><p><b>CONCLUSIONS</b>Cranial MRI, especially contrast-enhanced MRI, is of great significance for the diagnosis and treatment of CNSC. To confirm the guidance of MRI in the diagnosis and treatment of CNSC, further case-control studies are needed.</p>

Detection of aberrant PTPRO gene methylation in peripheral blood and its clinical significance in breast cancer patients / 肿瘤

Objective: To study the methylation status of PTPRO (protein tyrosine phosphatase receptor-type O) gene as a potential biomarker in the detection of breast cancer, and to analyze its association with clincopathologic features. Methods: The PTPRO gene promoter methylation status in primary human breast tumors, normal breast tissues and peripheral blood were detected by MSP (methylation specific-PCR), and the results were analyzed with corresponding clinico pathological data. Results: The frequency of PTPRO gene mehtylation among 98 breast cancer tissues were 55.1% (54/98), and 33.7% (33/98) in peripheral blood, however no PTPRO gene mehtylation was found in normal breast tissues. PTPRO gene methylation in peripheral blood was significantly correlated to that in tumor tissue (r = 17.083,P = 0.000). PTPRO methylation was associated with tumor stage (r = 9.649,P = 0.001), histological grade (r = 2.476,P = 0.035), lymph node metastasis (r = 3.400, P = 0.003) and ErbB2-positive (r = 4.912,P = 0.000). Patients with ER (estrogen receptor)-negative and PR (progestogen receptor)-negative had more PTPRO methylation, but the difference was not statistically significant. No aberrant methylation of PTPRO gene was found in the plasma samples from healthy control and the patients without gene methylation in tumor tissues. Conclusion: PTPRO gene promoter mehtylation may play an important role in the carcinogenesis and development of breast cancer. It might be used to predict the prognosis of breast cancer patients. Furthermore, this is the first report of methylated PTPRO as a noninvasive tumor biomarker in peripheral blood of breast tumor patients for detection and disease monitoring. Copyright © 2013 by TUMOR.

Diagnosis and treatment of group A β-hemolytic Streptococcal pharyngitis / 中华实用儿科临床杂志

Group A β-hemolytic Streptococcus(GAS) can cause a variety of infectious diseases,acute pharyngitis,and impetigo are the most.Non-suppurative complications can be followed after GAS infections,such as acute rheumatic fever,acute glomerulonephritis.GAS pharyngitis has no specific differences with other pathogens.Throat culture or rapid antigen detection test(RADT) should be done to determine whether GAS infections.Children with acute GAS pharyngitis should receive antibiotic therapy.Penicillin is the recommended antimicrobial agent.

Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze de novo copy number variations (CNVs) in a Chinese family affected with autism spectrum disorders (ASD).</p><p><b>METHODS</b>Affymetrix Cytogenetics Whole Genome 2.7M Array assay was performed to identify potential CNVs in four members from the family.</p><p><b>RESULTS</b>A total of 89 de novo CNV regions were identified in the autistic siblings. The CNV regions in total have exceeded 1/1000 of the lengths of chromosomes 5, 11 and 14. In addition, de novo CNV regions were also identified at 3p26.1, 4q22.2, and 5p15.2, which encompassed 10 genes associated with nerve development including GRM7, GRID2 and CTNND2.</p><p><b>CONCLUSION</b>A number of nerve development associated genes were at the de novo CNV sites, which may provide new clues for genetic research of ASD. High-resolution array-comparative genomic hybridization is an effective method for detecting submicroscopic chromosomal imbalances.</p>

Study of dystrophin gene non-deletion/duplication mutations causing Becker muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations in patients featuring Becker muscular dystrophy (BMD) and to enhance the understanding of non-deletion/duplication mutations of the dystrophin gene causing BMD.</p><p><b>METHODS</b>Clinical data of two patients affected with BMD were collected. Potential mutations in the dystrophin gene were screened with multiplex ligation-dependent probe amplification assay (MLPA). Biopsied muscle samples were examined with HE staining, immnostaining with anti-dystrophin antibody, and electronic microscopy.</p><p><b>RESULTS</b>MLPA assay suggested that both cases were probably due to non-deletion/duplication mutations of the dystrophin gene. Light and electronic microcopy of skeletal muscle biopsies confirmed dystrophic changes in both patients. For patient A, immunostaining showed non-contiguous weak staining for most parts of sarcolemma. For patient B, immunostaining showed positive result with N-terminal anti-dystrophin antibody and negative result with C-terminal anti-dystrophin antibody.</p><p><b>CONCLUSION</b>For patients with mild phenotypes but without dystrophin gene deletion/duplication, muscle biopsy and immunochemistry are helpful for diagnosis and prognosis.</p>

PIK3CA mutation is an independent indicator of malignant phenotype and prognosis in breast cancer / 中华肿瘤杂志

<p><b>OBJECTIVE</b>The phosphatidylinositol-3-kinase (PI3K)-AKT signaling pathway is considered to play an important role in tumorigenesis. Frequent somatic mutations in the PI3K subunit p110a (PIK3CA) occur in a variety of cancer types. The purpose of this study was to determine the relationship between PIK3CA mutation in breast cancer and pathological features and outcome of patients.</p><p><b>METHODS</b>The PIK3CA mutations in exons 7, 9, 20 were screened in 250 primary breast cancers using PCR and fluorescent (F)-SSCP, and the results were analyzed according to their cliniopathological data.</p><p><b>RESULTS</b>The frequency of PIK3CA mutations among the 250 cases was 35.2% (88/250), point mutations in exon 7 were found in 8 (3.2%) cases,40 (16.0%) cases in exon 9 and 47 (18.8%) cases in exon 20. No significant correlation between PIK3CA mutation and age, histological type, differentiation, and lymph node metastasis was observed. Mutations were associated with larger tumor size (P = 0.004) and positive estrogen receptor status (P = 0.008). Patients with PIK3CA mutations showed a significantly worse survival (P = 0.004), particularly in those with positive estrogen receptor expression or non-amplified HER-2 (both P = 0.002).</p><p><b>CONCLUSIONS</b>PIK3CA mutations may play an important role in the carcinogenesis and development of breast cancer. The association with large tumor size, ER+ and poor survival indicates that PIK3CA mutation could be an independent factor for tumor malignant phenotype and prognosis.</p>

A survey on the standardized treatment of 33 cases of children thalassemia and their family economic burden in Bao'an district, Shenzhen city, 2009 / 中国地方病学杂志

Objective To investigate the standardized treatment of 33 children with thalassemia and their family financial burden registered in Bao'an district, Shenzhen city, and to provide basic information for formulating health policy for the government. Methods In 2009, preliminary investigations on 39 registered families with thalassemia children were conducted by telephone, and a household survey was made to collect treatment and economic status by questionnaire on 33 children. Results Among 33 cases of thalassemia children, 21 cases(63.7%) were severe anemia, 5 cases( 15.1%) in need of care or special care, and 25 cases(75.8%) were difficult or unable to maintain standardized treatment. The average family monthly income and expenditure was (4060 ± 2002) and (4926 ± 2991) yuan, respectively. The average monthly treatment costs were (2665 ± 1872) yuan, and the average debt amounted to (64 600 ± 53 940) yuan. Fifteen families[60.0%(15/25)] would reduce the times of blood transfusions or iron transpirations when they encountered revenue deficiency. Conclusions The heavy economic burdens on families with children thalassemia result in inadequate or interrupted treatment on sick children and affect their survival and quality of life, which should be taken more attention and social care.

Development and genetic polymorphism of abnormal pronuclear zygotes after intracytoplasmic sperm injection / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To compare the development of abnormal pronuclear zygotes after intracytoplasmic sperm injection (ICSI) and analyze their genetic polymorphism.</p><p><b>METHODS</b>Four hundred and ninety three abnormal pronuclear zygotes after ICSI were divided into three groups based on the number of pronuclei: 347 nonpronuclear oocytes, 71 monopronuclear zygotes and 75 multipronuclear zygotes. All of them were cultured in the medium of Vitrolife G5 series(TM). Sixteen short tandem repeats (STR) of seven blastocysts were then analyzed by ABI3100.</p><p><b>RESULTS</b>The cleavage rate of nonpronuclear group (25.4%) was lower than that of the others (P<0.01), the proportion of blocked embryos in nonpronuclear group (48.9%) was significantly higher than that of the others (P<0.05), but the blastocyst rate showed no significant difference in three groups (P>0.05). The genetic polymorphism of the 16 STRs showed that the blastocysts from the nonpronuclear and multipronuclear were diploid, and one of the blastocysts from nonpronuclear oocyte was Y-bearing.</p><p><b>CONCLUSION</b>The zygotes with abnormal pronuclei after ICSI might have development potential, and the blastocysts from nonpronuclear oocytes and multipronuclear zygotes could be diploid.</p>

Identification of deletion/duplication mutations in DMD gene by multiple ligation probe amplification and denaturing high-performance liquid chromatography / 中国医学科学院学报

<p><b>OBJECTIVE</b>To compare the effectiveness of using multiple ligation probe amplification (MLPA) and denaturing high-performance liquid chromatography (DHPLC) in screening the exon deletions and duplications of the DMD gene.</p><p><b>METHODS</b>MLPA technique was applied to detect exon deletions and duplications previously confirmed by denaturing high-performance liquid chromatography (DHPLC).</p><p><b>RESULTS</b>From October 2004 to October 2005, 22 unrelated DMD probands and their possible female relatives with clinical diagnosis with dystrophinopathy at our hospital entered this study. Both DHPLC and MPLA detected DMD gene depletion in 11 probands and DMD duplications in 3 probands. MLPA detected deletions and duplications in 2 probands, which were not detected by DHPLC. MLPA also successfully identified the carriage status of the potential female carriers of the probands.</p><p><b>CONCLUSION</b>Compared with DHPLC and traditional PCR techniques, MLPA is a superior tool to analyze the deletions and duplications in affected males as well as in the identification of the carriage status of potential females carriers.</p>

Sibling brother and sister both with Duchenne muscular dystrophy / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the clinical and lab features of sibling brother and sister both with Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>We conducted comprehensive clinical and lab investigations including the test of serum enzymes, electromyography (EMG), electrocardiography, color Doppler echocardiography, HE staining of skeletal muscles, immunohistochemical study of dystrophin and utrophin, multiple ligation probe amplification (MLPA) on exon 1-79 of dystrophin gene, and short tandem repeat-poly- merase chain reaction of CA repeats located in dystrophin gene.</p><p><b>RESULTS</b>These two patients were confirmed to suffer from DMD. They were characterized by typical features of DMD including typical clinical manifestations, increased serum enzymes, EMG presenting myogenic impairment, HE staining presentation belonging to DMD, negative dystrophin in brother, and inconstantly positive on the sarcolemma of sister. Furthermore, no deletion or duplication was found in the 1-79 exons of dystrophin gene. The suffering brother and sister carried the same maternal X chromosome.</p><p><b>CONCLUSIONS</b>Carriers of DMD gene show typical clinical and laboratory manifestations of DMD. Comprehensive examinations should be performed for such carriers.</p>

Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect genomic deletion and duplication mutations in the dystrophin gene of the Duchenne muscular dystrophy (DMD) patients and their potential female carriers.</p><p><b>METHODS</b>Genomic deletions and duplications of the DMD gene in 32 affected males and 27 potential female carriers were screened by mutiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>Of the 32 investigated affected males, 24 were detected to have deletions of one or more exons of the DMD gene, 1 patient had a duplication from exon 5 to 55, 1 patient had a nonsense point mutation (R768X) in exon 19, the other 6 affected males were predicted to have possible disease-causing point mutations. MLPA analysis showed a DMD deletion or duplication in 18 female relatives, and the female carriers had the same deletion or duplication as their probands, respectively.</p><p><b>CONCLUSION</b>MLPA analysis is proven to be an efficient tool for identification of both affected males and female carriers of DMD rearrangements in cases in which the disease-causing mutation in the affected male was not known. It could provide useful information for the genetic counseling of the family involved.</p>

Identification of disease-causing point mutations in DMD patients' dystrophin gene without large deletions/duplications / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the disease-causing point mutations in the dystrophin gene of Duchenne muscular dystrophy (DMD) patients.</p><p><b>METHODS</b>The approach of denaturing high performance liquid chromatography (DHPLC) coupling with sequencing was used to screen the point mutations of 79 exons and the untranslated regions of dystrophin gene without large deletions/duplications, which was in 6 unrelated DMD probands from 6 DMD families.</p><p><b>RESULTS</b>Five disease-causing mutations, 697-698insGT, C616T, G1255T, C4279T, and C2302T, were ides created the new stop codons in downstream sites of mutations, respectively. In addition to the disease-causing point mutations, a point mutation T5586+61A in intron 39 was also found at patient 3, and a missense mutation A694T in exon 8 was detected at patient 5. Four point mutations, C2168+13T, 5740-13dupG, G5234A and C5280T, were also detected at patient 6 whose causative point mutation was unavailable. Seven point mutations have not been reported previously. Bi-directional PCR amplification of specific alleles (Bi-PASA) method was established to distinguish the haplotypes of heterozygote or homozygote in a single PCR reaction.</p><p><b>CONCLUSION</b>Via automated DHPLC screening or detecting the subexonic mutations in dystrophin gene is feasible to clinical laboratories, and also is a superior method in terms of sensitivity and efficiency.</p>