共查询到20条相似文献,搜索用时 31 毫秒
1.
Ramesh Reddy Somayyeh Fahiminiya Elie El Zir Ahmad Mansour Andre Megarbane Jacek Majewski Rima Slim 《PloS one》2014,9(9)
Background
Usher syndrome (USH) is a genetically heterogeneous condition with ten disease-causing genes. The spectrum of genes and mutations causing USH in the Lebanese and Middle Eastern populations has not been described. Consequently, diagnostic approaches designed to screen for previously reported mutations were unlikely to identify the mutations in 11 unrelated families, eight of Lebanese and three of Middle Eastern origins. In addition, six of the ten USH genes consist of more than 20 exons, each, which made mutational analysis by Sanger sequencing of PCR-amplified exons from genomic DNA tedious and costly. The study was aimed at the identification of USH causing genes and mutations in 11 unrelated families with USH type I or II.Methods
Whole exome sequencing followed by expanded familial validation by Sanger sequencing.Results
We identified disease-causing mutations in all the analyzed patients in four USH genes, MYO7A, USH2A, GPR98 and CDH23. Eleven of the mutations were novel and protein truncating, including a complex rearrangement in GPR98.Conclusion
Our data highlight the genetic diversity of Usher syndrome in the Lebanese population and the time and cost-effectiveness of whole exome sequencing approach for mutation analysis of genetically heterogeneous conditions caused by large genes. 相似文献2.
Ludovic Lacroix Sophie F. Post Alexander Valent Antoine E. Melkane Philippe Vielh Coumaran Egile Christelle Castell Christelle Larois Sandrine Micallef Patrick Saulnier Hélène Goulaouic Anne-Marie Lefebvre Stéphane Temam 《PloS one》2014,9(1)
Background
Identification of MET genetic alteration, mutation, or amplification in oropharyngeal squamous cell carcinoma (OPSCC) could lead to development of MET selective kinase inhibitors. The aim of this study was to assess the frequency and prognostic value of MET gene mutation, amplification, and protein expression in primary OPSCC.Methods
A retrospective chart review was conducted of patients treated for single primary OPSCC between January 2007 and December 2009. Pre-treatment OPSCC tissue samples were analyzed for MET mutations, gene amplification, and overexpression using Sanger sequencing, FISH analysis, and immunohistochemistry respectively. Univariate and multivariate analyses were used to analyze correlations between molecular abnormalities and patient survival.Results
143 patients were included in this study. Six cases (4%) were identified that had a genetic variation, but previously described mutations such as p.Tyr1235Asp (Y1235D) or p.Tyr1230Cys (Y1230C) were not detected. There were 15 high polysomy cases, and only 3 cases met the criteria for true MET amplification, with ≥10% amplified cells per case. Immunohistochemistry evaluation showed 43% of cases were c-MET negative and in 57% c-MET was observed at the tumor cell level. Multivariate analysis showed no significant association between MET mutation, amplification, or expression and survival.Conclusions
Our study shows a low frequency of MET mutations and amplification in this cohort of OPSCC. There was no significant correlation between MET mutations, amplification, or expression and patient survival. These results suggest that patient selection based on these MET genetic abnormalities may not be a reliable strategy for therapeutic intervention in OPSCC. 相似文献3.
Background
During postnatal murine and rodent cerebellar development, cerebellar granule precursors (CGP) gradually stop proliferating as they differentiate after migration to the internal granule layer (IGL). Molecular events that govern this program remain to be fully elucidated. GPR3 belongs to a family of Gs-linked receptors that activate cyclic AMP and are abundantly expressed in the adult brain.Methodology/Principal Findings
To investigate the role of this orphan receptor in CGP differentiation, we determined that exogenous GPR3 expression in rat cerebellar granule neurons partially antagonized the proliferative effect of Sonic hedgehog (Shh), while endogenous GPR3 inhibition by siRNA stimulated Shh-induced CGP proliferation. In addition, exogenous GPR3 expression in CGPs correlated with increased p27/kip expression, while GPR3 knock-down led to a decrease in p27/kip expression. In wild-type mice, GPR3 expression increased postnatally and its expression was concentrated in the internal granular layer (IGL). In GPR3 −/− mice, the IGL was widened with increased proliferation of CGPs, as measured by bromodeoxyuridine incorporation. Cell cycle kinetics of GPR3-transfected medulloblastoma cells revealed a G0/G1 block, consistent with cell cycle exit.Conclusions/Significance
These results thus indicate that GPR3 is a novel antiproliferative mediator of CGPs in the postnatal development of murine cerebellum. 相似文献4.
Dai Kishida Akinori Nakamura Masahide Yazaki Ayako Tsuchiya-Suzuki Masayuki Matsuda Shu-ichi Ikeda 《Arthritis research & therapy》2014,16(5)
Introduction
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. Many patients with FMF have been reported in Japan due to increasing recognition of this condition and the availability of genetic analysis for the gene responsible, MEFV. The present study was performed to elucidate the clinical characteristics of Japanese FMF patients and to examine the precise genotype-phenotype correlation in a large cohort of Japanese FMF patients.Methods
We analyzed the MEFV genotypes and clinical manifestations in 116 patients clinically diagnosed as having FMF and with at least one mutation.Results
The most frequent mutation in Japanese patients was E148Q (40.2%), followed by M694I (21.0%), L110P (18.8%), P369S (5.4%), and R408Q (5.4%). In contrast, common mutations seen in Mediterranean patients, such as M694V, V726A, and M680I, were not detected in this population. The clinical features with M694I were associated with more severe clinical course compared to those seen with E148Q. P369S/R408Q showed variable phenotypes with regard to both clinical manifestations and severity. Patients with M694I showed a very favorable response to colchicine therapy, while those with P369S and R408Q did not.Conclusions
Clinical features and efficacy of treatment in Japanese FMF patients vary widely according to the specific MEFV gene mutation, and therefore genetic analysis should be performed for diagnosis in cases of Japanese FMF.Electronic supplementary material
The online version of this article (doi:10.1186/s13075-014-0439-7) contains supplementary material, which is available to authorized users. 相似文献5.
Background
Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively.Objective
The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.Patients and Methods
Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database.Results
Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively). The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.Conclusion
This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of OCA. 相似文献6.
7.
Abdou Amza Boubacar Kadri Baido Nassirou Sun N. Yu Nicole E. Stoller Satasuk J. Bhosai Zhaoxia Zhou Charles E. McCulloch Sheila K. West Robin L. Bailey Jeremy D. Keenan Thomas M. Lietman Bruce D. Gaynor 《PLoS neglected tropical diseases》2013,7(1)
Background
Control programs for trachoma use mass antibiotic distributions to treat ocular Chlamydia trachomatis in an effort to eliminate this disease worldwide. To determine whether children infected with ocular Chlamydia are more likely to present later for examination than those who are uninfected, we compare the order of presentation for examination of children 0–5 years, and the presence of ocular Chlamydia by PCR in 4 villages in Niger where trachoma is endemic.Methods
We conducted a cluster-randomized, controlled trial where 48 randomly selected villages in Niger are divided into 4 study arms of different mass treatment strategies. In a substudy of the main trial, we randomly selected 1 village from each of the 4 study arms (4 total villages) and we evaluated the odds of ocular Chlamydia versus the rank order of presentation for examination and laboratory assessment before treatment was offered.Findings
We found the odds of harboring ocular Chlamydia dropped by more than 70% from the first child examined to the last child examined (OR 0.27, 95% CI 0.13–0.59, P = 0.001) in the 4 randomly selected villages. We found the odds of active trachoma dropped by 80% from the first child examined to the last child examined (OR 0.20, 95% CI 0.10–0.4, P<0.0001) in the 48 villages in the main trial.Interpretation
This study demonstrates that even if the WHO recommended 80% treatment coverage is not reached in certain settings, children 0–5 years with the greatest probability of ocular Chlamydia have higher odds of receiving attention because they are the first to present. These results suggest there may be diminishing returns when using scarce resources to track down the last few children in a mass treatment program.Trial Registration
ClinicalTrials.gov NCT00792922相似文献8.
Coenen MJ Enevold C Barrera P Schijvenaars MM Toonen EJ Scheffer H Padyukov L Kastbom A Klareskog L Barton A Kievit W Rood MJ Jansen TL Swinkels D van Riel PL Franke B Bendtzen K Radstake TR 《PloS one》2010,5(12):e14326
Background
Several studies point to a role of Toll-like receptors (TLRs) in the development of rheumatoid arthritis (RA). We investigated if genetic variants in TLR genes are associated with RA and response to tumour necrosis factor blocking (anti-TNF) medication.Methodology and Principal Findings
22 single nucleotide polymorphisms (SNPs) in seven TLR genes were genotyped in a Dutch cohort consisting of 378 RA patients and 294 controls. Significantly associated variants were investigated in replication cohorts from The Netherlands, United Kingdom and Sweden (2877 RA patients and 2025 controls). 182 of the Dutch patients were treated with anti-TNF medication. Using these patients and a replication cohort (269 Swedish patients) we analysed if genetic variants in TLR genes were associated with anti-TNF outcome. In the discovery phase of the study we found a significant association of SNPs rs2072493 in TLR5 and rs3853839 in TLR7 with RA disease susceptibility. Meta-analysis of discovery and replication cohorts did not confirm these findings. SNP rs2072493 in TLR5 was associated with anti-TNF outcome in the Dutch but not in the Swedish population.Conclusion
We conclude that genetic variants in TLRs do not play a major role in susceptibility for developing RA nor in anti-TNF treatment outcome in a Caucasian population. 相似文献9.
Satoshi Katagiri Masakazu Akahori Yuri Sergeev Kazutoshi Yoshitake Kazuho Ikeo Masaaki Furuno Takaaki Hayashi Mineo Kondo Shinji Ueno Kazushige Tsunoda Kei Shinoda Kazuki Kuniyoshi Yohinori Tsurusaki Naomichi Matsumoto Hiroshi Tsuneoka Takeshi Iwata 《PloS one》2014,9(9)
Objective
The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population.Methods
In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP (spRP) were recruited in this study and ophthalmic examinations were conducted for the diagnosis of RP. Among these patients, whole exome sequencing analysis of 30 RP patients and direct sequencing screening of all CNGA1 exons of the other 69 RP patients were performed.Results
Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of CNGA1 (four patients), EYS (three patients) and SAG (one patient) in eight patients and potential disease-causing gene variants of USH2A (two patients), EYS (one patient), TULP1 (one patient) and C2orf71 (one patient) in five patients. Screening of an additional 69 arRP/spRP patients for the CNGA1 gene mutation revealed one patient with a homozygous mutation.Conclusions
This is the first identification of CNGA1 mutations in arRP Japanese patients. The frequency of CNGA1 gene mutation was 5.1% (5/99 patients). CNGA1 mutations are one of the most frequent arRP-causing mutations in Japanese patients. 相似文献10.
Houfa Yin Chongfei Jin Xiaoyun Fang Qi Miao Yingying Zhao Zhiqing Chen Zhaoan Su Panpan Ye Yao Wang Jinfu Yin 《PloS one》2014,9(4)
Purpose
To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD).Methods
Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR) and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV). One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2.Results
All 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles), either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV.Conclusion
The novel CYP4V2 c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype–phenotype associations in Chinese patients with BCD. 相似文献11.
Yanjun Li Yujun Cui Baizhong Cui Yanfeng Yan Xianwei Yang Haidong Wang Zhizhen Qi Qingwen Zhang Xiao Xiao Zhaobiao Guo Cong Ma Jing Wang Yajun Song Ruifu Yang 《PloS one》2013,8(6)
Background
Variable number of tandem repeats (VNTRs) that are widely distributed in the genome of Yersinia pestis proved to be useful markers for the genotyping and source-tracing of this notorious pathogen. In this study, we probed into the features of VNTRs in the Y. pestis genome and developed a simple hierarchical genotyping system based on optimized VNTR loci.Methodology/Principal Findings
Capillary electrophoresis was used in this study for multi-locus VNTR analysis (MLVA) in 956 Y. pestis strains. The general features and genetic diversities of 88 VNTR loci in Y. pestis were analyzed with BioNumerics, and a “14+12” loci-based hierarchical genotyping system, which is compatible with single nucleotide polymorphism-based phylogenic analysis, was established.Conclusions/Significance
Appropriate selection of target loci reduces the impact of homoplasies caused by the rapid mutation rates of VNTR loci. The optimized “14+12” loci are highly discriminative in genotyping and source-tracing Y. pestis for molecular epidemiological or microbial forensic investigations with less time and lower cost. An MLVA genotyping datasets of representative strains will improve future research on the source-tracing and microevolution of Y. pestis. 相似文献12.
Hua Yue Jin-bo Yu Jin-wei He Zeng Zhang Wen-zhen Fu Hao Zhang Chun Wang Wei-wei Hu Jie-mei Gu Yun-qiu Hu Miao Li Yu-juan Liu Zhen-Lin Zhang 《PloS one》2014,9(5)
Objective
X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia.Methods
For this study, 45 individuals from 9 unrelated families of Chinese Han ethnicity (including 16 patients and 29 normal phenotype subjects), and 250 healthy donors were recruited. All 22 exons and exon-intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced.Results
The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia. Altogether, 2 novel mutations were detected: 1 missense mutation c.1183G>C in exon 11, resulting in p.Gly395Arg and 1 missense mutation c.1751A>C in exon 17, resulting in p.His584Pro. No mutations were found in the 250 healthy controls.Conclusions
Our study increases knowledge of the PHEX gene mutation types and clinical phenotypes found in Chinese patients with XLH, which is important for understanding the genetic basis of XLH. The molecular diagnosis of a PHEX genetic mutation is of great importance for confirming the clinical diagnosis of XLH, conducting genetic counseling, and facilitating prenatal intervention, especially in the case of sporadic patients. 相似文献13.
Enrico Premi Franco Cauda Roberto Gasparotti Matteo Diano Silvana Archetti Alessandro Padovani Barbara Borroni 《PloS one》2014,9(9)
Background
Monogenic dementias represent a great opportunity to trace disease progression from preclinical to symptomatic stages. Frontotemporal Dementia related to Granulin (GRN) mutations presents a specific framework of brain damage, involving fronto-temporal regions and long inter-hemispheric white matter bundles. Multimodal resting-state functional MRI (rs-fMRI) is a promising tool to carefully describe disease signature from the earliest disease phase.Objective
To define local connectivity alterations in GRN related pathology moving from the presymptomatic (asymptomatic GRN mutation carriers) to the clinical phase of the disease (GRN- related Frontotemporal Dementia).Methods
Thirty-one GRN Thr272fs mutation carriers (14 patients with Frontotemporal Dementia and 17 asymptomatic carriers) and 38 healthy controls were recruited. Local connectivity measures (Regional Homogeneity (ReHo), Fractional Amplitude of Low Frequency Fluctuation (fALFF) and Degree Centrality (DC)) were computed, considering age and gender as nuisance variables as well as the influence of voxel-level gray matter atrophy.Results
Asymptomatic GRN carriers had selective reduced ReHo in the left parietal region and increased ReHo in frontal regions compared to healthy controls. Considering Frontotemporal Dementia patients, all measures (ReHo, fALFF and DC) were reduced in inferior parietal, frontal lobes and posterior cingulate cortex. Considering GRN mutation carriers, an inverse correlation with age in the posterior cingulate cortex, inferior parietal lobule and orbitofrontal cortex was found.Conclusions
GRN pathology is characterized by functional brain network alterations even decades before the clinical onset; they involve the parietal region primarily and then spread to the anterior regions of the brain, supporting the concept of molecular nexopathies. 相似文献14.
Rodrigue Dessein Véronique Corbière Jo?lle Nortier Max Dratwa Karine Gastaldello Agnieszka Pozdzik Sophie Lecher Bruno Grandbastien Camille Locht Fran?oise Mascart 《PloS one》2013,8(8)
Background
Patients with end-stage renal disease (ESRD) and latently infected with Mycobacterium tuberculosis (LTBI) are at higher risk to develop tuberculosis (TB) than healthy subjects. Interferon-gamma release assays (IGRAs) were reported to be more sensitive than tuberculin skin tests for the detection of infected individuals in dialysis patients.Methods
On 143 dialysis patients prospectively enrolled, we compared the results from the QuantiFERON®-TB Gold assay (QFT), to those of an IGRA in response to in vitro stimulation of circulating mononuclear cells with the mycobacterial latency antigen Heparin-Binding Haemagglutinin purified from Mycobacterium bovis BCG (native HBHA, nHBHA).Results
Seven patients had a past history of active TB and 1 had an undetermined result with both IGRAs. Among the other 135 patients, 94 had concordant results with the QFT and nHBHA-IGRA, 40.0% being negative and therefore not latently infected, and 29.6% being positive and thus LTBI. Discrepant results between these tests were found for 36 patients positive only with the nHBHA-IGRA and 5 only with the QFT.Conclusions
The nHBHA-IGRA is more sensitive than the QFT for the detection of LTBI dialysis patients, and follow-up of the patients will allow us to define the clinical significance of discrepant results between the nHBHA-IGRA and the QFT. 相似文献15.
I. A. W. van Rijsingen S. C. A. M. Bekkers S. Schalla J. F. Hermans-van Ast G. Snoep B. S. N. Alzand Y. H. J. M. Arens A. van den Wijngaard H. J. G. M. Crijns Y. M. Pinto 《Netherlands heart journal》2011,19(4):168-174
Aims
Hypertrophic cardiomyopathy (HCM) is a frequent cause of sudden cardiac death (SCD) due to exercise-related ventricular arrhythmias (ERVA); however the pathological substrate is uncertain. The aim was to determine the prevalence of ERVA and their relation with fibrosis as determined by cardiac magnetic resonance imaging (CMR) in carriers of an HCM causing mutation.Methods
We studied the prevalence and origin of ERVA and related these with fibrosis on CMR in a population of 31 HCM mutation carriers.Results
ERVA occurred in seven patients (23%) who all showed evidence of fibrosis (100% ERVA(+) vs. 58% ERVA(-), p = 0.04). No ventricular tachycardia or ventricular fibrillation occurred. In patients with ERVA, the extent of fibrosis was significantly larger (8 ± 4% vs. 3 ± 4%, p = 0.02). ERVA originated from areas with a high extent of fibrosis or regions directly adjacent to these areas.Conclusions
ERVA in HCM mutation carriers arose from the area of fibrosis detected by CMR; ERVA seems closely related to cardiac fibrosis. Fibrosis as detected by CMR should be evaluated as an additional risk factor to further delineate risk of SCD in carriers of an HCM causing mutation. 相似文献16.
Matemba LE Fèvre EM Kibona SN Picozzi K Cleaveland S Shaw AP Welburn SC 《PLoS neglected tropical diseases》2010,4(11):e868
Background
Human African trypanosomiasis is a severely neglected vector-borne disease that is always fatal if untreated. In Tanzania it is highly focalised and of major socio-economic and public health importance in affected communities.Objectives
This study aimed to estimate the public health burden of rhodesiense HAT in terms of DALYs and financial costs in a highly disease endemic area of Tanzania using hospital records.Materials and Methods
Data was obtained from 143 patients admitted in 2004 for treatment for HAT at Kaliua Health Centre, Urambo District. The direct medical and other indirect costs incurred by individual patients and by the health services were calculated. DALYs were estimated using methods recommended by the Global Burden of Disease Project as well as those used in previous rhodesiense HAT estimates assuming HAT under reporting of 45%, a figure specific for Tanzania.Results
The DALY estimate for HAT in Urambo District with and without age-weighting were 215.7 (95% CI: 155.3–287.5) and 281.6 (95% CI: 209.1–362.6) respectively. When 45% under-reporting was included, the results were 622.5 (95% CI: 155.3–1098.9) and 978.9 (95% CI: 201.1–1870.8) respectively. The costs of treating 143 patients in terms of admission costs, diagnosis, hospitalization and sleeping sickness drugs were estimated at US$ 15,514, of which patients themselves paid US$ 3,673 and the health services US$ 11,841. The burden in terms of indirect non-medical costs for the 143 patients was estimated at US$ 9,781.Conclusions
This study shows that HAT imposes a considerable burden on affected rural communities in Tanzania and stresses the urgent need for location- and disease-specific burden estimates tailored to particular rural settings in countries like Tanzania where a considerable number of infectious diseases are prevalent and, due to their focal nature, are often concentrated in certain locations where they impose an especially high burden. 相似文献17.
Background
Methicillin-resistant Staphylococcus aureus (MRSA) infection is an important public health issue. The study aimed to determine the prevalence of ocular infections caused by MRSA and to identify the clinical characteristics and antibiotic susceptibility of ocular MRSA infections by comparing those of ocular methicillin-sensitive S. aureus (MSSA) infections.Methodology/Principal Findings
The medical records of the patients (n = 519) with culture-proven S. aureus ocular infections seen between January 1, 1999 and December 31, 2008 in Chang Gung Memorial Hospital were retrospectively reviewed. Two hundred and seventy-four patients with MRSA and 245 with MSSA ocular infections were identified. The average rate of MRSA in S. aureus infections was 52.8% and the trend was stable over the ten years (P value for trend = 0.228). MRSA ocular infections were significantly more common among the patients with healthcare exposure (P = 0.024), but 66.1% (181/274) patients with MRSA ocular infections had no healthcare exposure. The most common clinical presentation for both MRSA and MSSA ocular infections was keratitis; MRSA and MSSA caused a similar disease spectrum except for lid infections. MRSA was significantly more resistant than MSSA to clindamycin, erythromycin and sulfamethoxazole/trimethoprim (all P<0.001).Conclusions/significance
We demonstrated a paralleled trend of ocular MRSA infection in a highly prevalent MRSA country by hospital-based survey. Except for lid disorder, MRSA shared similar spectrum of ocular pathology with MSSA. Since S. aureus is a common ocular pathogen, our results raise clinician’s attention to the existence of highly prevalent MRSA. 相似文献18.
19.
Haixia Su Yuhai Zhang Dezhong Xu Bo Wang Lei Zhang Duan Li Dan Xiao Fan Li Jingxia Zhang Yongping Yan 《PloS one》2013,8(8)
Objective
To investigate the prevalence of occult HBV infection (OBI) among children and to characterize virology of occult HBV, we conducted an epidemiological survey.Methods
186 HB-vaccinated infants born to HBsAg-positive mothers were included in the study. Serological tests for HBV markers were performed using commercial ELISA kits. Real-time quantitative PCR and nested PCR were used to detect HBV DNA. PCR products of the C and pre-S/S regions were sequenced and analyzed.Results
1.61% (3/186) infants were HBsAg positive, and 4.92% (9/183) infants were considered as occult infection. The viral load of mothers was associated with occult infection (P = 0.020). Incomplete three-dose injections of HB vaccine was associated with HBV infection (P = 0.022). Six OBI infants were positive for anti-HBs, but their titers were not greater than 100 mIU/mL. Seven isolated HBV pre-S/S sequences were obtained from nine OBI infants. Three of the sequences were genotype C, and four of the sequences were genotype C/D. Escape mutation S143L was found in the four sequences of genotype C/D. All seven sequences lacked G145R and other escape mutation in S region.Conclusions
Occult HBV infection was detected in anti-HBs positive infants born to HBsAg-positive mothers in China. Occult infection was associated with absent anti-HBs or with low anti-HBs level, high maternal viral loads and escape mutations in the S gene. 相似文献20.