bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of the DSPP mutation in a new kindred and phenotype–genotype correlation
Authors: Lee S‐K , Lee K‐E , Hwang Y‐H , Kida M , Tsutsumi T , Ariga T , Park J‐C , Kim J‐W 
Published: October 2010

Oral Diseases (2011) 17, 314–319Objective:  Hereditary dentin defects can be grouped into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia. Tooth enamel is considered normal in patients with hereditary dentin defects, but is easily worn down and fractured due to DSPP mutation‐induced altered dentin properties. The purposes of this study were to identify genetic cause of a family with type II DGI and enamel defects.Materials and methods:  We identified a family with type II DGI and a unique form of hypoplastic enamel defect affecting occlusal third of the crown. Family members were recruited for the genetic analysis and DNA was obtained from peripheral whole blood.Results:  Mutational analysis revealed a T to A transversion in exon 3 of the DSPP (c.53T>A, p.V18D). Haplotype analysis showed that the same mutation arose separately in two different families having DGI with similar enamel defects, indicating that this phenotype is associated with this specific DSPP mutation. Clinical features suggest that enamel formation was affected in the affected individuals during early amelogenesis, in addition to the dentin defect.Conclusions:  We observed that a DSPP gene mutation not only influences dentinogenesis but also affects early stage amelogenesis.
Stress Distributions
in Plasma-Sprayed Thermal Barrier Coatings Under Thermal Cycling in a Temperature
Gradient
Authors: Limarga Andi
M. , Vaßen Robert , Clarke David R. 
Published: October 2010

Abstract
The residual stress distribution in plasma-sprayed zirconia thermal barrier coatings subjected to cyclic thermal gradient testing was evaluated using Raman piezospectroscopy and finite element computation. The thermal gradient testing (approximately 440°C/mm at temperature), consisted of repeated front-side heating with a flame and constant cooling of the back-side of the substrate either with front-side radiative cooling only or with additional forced air cooling between the heating cycles. The coatings exhibited characteristic “mud-cracking” with the average crack spacing dependent on the cooling treatment. This is consistent with finite element calculations and Raman spectroscopy measurements in which the sudden drop in coating surface temperature on initial cooling leads to a large biaxial tension at the surface. The key to proper interpretation of the Raman shifts is that the stress-free Raman peaks need to be corrected for shifts associated with the evolution of the metastable tetragonal phase with aging.
Epigenetics in the Extreme: Prions and the Inheritance of Environmentally Acquired Traits
Authors: Halfmann Randal , Lindquist Susan 
Published: October 2010

Prions are an unusual form of epigenetics: Their stable inheritance and complex phenotypes come about through protein folding rather than nucleic acid–associated changes. With intimate ties to protein homeostasis and a remarkable sensitivity to stress, prions are a robust mechanism that links environmental extremes with the acquisition and inheritance of new traits.
Field Application of the H9M2e Enzyme-Linked Immunosorbent Assay for Differentiation of H9N2 Avian Influenza Virus-Infected Chickens from Vaccinated Chickens
Authors: Kim Min-Chul , Choi Jun-Gu , Kwon Ji-Sun , Kang Hyun-Mi , Paek Mi-Ra , Jeong Ok-Mi , Kwon Jun-Hun , Lee Youn-Jeong 
Published: October 2010

ABSTRACT

Vaccination for control of H9N2 low-pathogenicity avian influenza (LPAI) in chickens began in 2007 in South Korea where the H9N2 virus is prevalent. Recently, an enzyme-linked immunosorbent assay (ELISA) using the extracellular domain of the M2 protein (M2e ELISA) was developed as another strategy to differentiate between vaccinated and infected chickens. Here, an ELISA using the extracellular domain of the M2 protein of H9N2 LPAI virus (H9M2e ELISA) was applied to differentiate infected from vaccinated chickens using the H9N2 LPAI virus M2 peptide. The specificity and sensitivity of the optimized H9M2e ELISA were 96.1% and 83.8% (the absorbance of the sample to the absorbance for the positive control [S/P ratio] ≥ 0.6), respectively, with the cutoff value (S/P ratio = 0.6), and the criterion of avian influenza (AI) infection in a chicken house was established as >20% reactivity of anti-M2e antibody per house with this cutoff value. After infection in naïve chickens and once-vaccinated chickens with a hemagglutination inhibition (HI) assay titer of 9.25 ± 0.75 log
2
units, the sera from infected chickens were confirmed as AI infected when the chickens were 1 week old in both groups, and AI infection lasted for 24 weeks and 9 weeks in naïve and once-vaccinated chickens, respectively, although in twice-vaccinated chickens with a higher HI titer of 11.17 ± 0.37 log
2
units, anti-M2e antibody in infected sera did not reach a level indicating AI infection. In field application, anti-M2e antibody produced in infected chickens after vaccination or in reinfected chickens could be identified as AI infection, although HI test could not distinguish infected from vaccinated sera. These results indicate the utility of H9M2e ELISA as a surveillance tool in control of H9N2 LPAI infections.
Evaluation ofRickettsia japonicaPathogenesis and Reservoir Potential in Dogs by Experimental Inoculation and Epidemiologic Survey
Authors: Inokuma Hisashi , Matsuda Hironori , Sakamoto Leo , Tagawa Michihito , Matsumoto Kotaro 
Published: October 2010

ABSTRACTRickettsia japonicapathogenesis and reservoir potential in dogs were evaluated by both experimental inoculation and epidemiologic survey. In the experimental inoculation study, dogs 1 and 2 were pretreated with an immunosuppressive dose of cyclosporine 14 days before inoculation and became ill after exposure toR. japonica.Dogs exhibited clinical signs, including fever, anorexia, depression, and decreased water consumption, between 36 and 96 h after inoculation, but these signs disappeared spontaneously by 5 days after inoculation. Dogs 3 and 4 were not pretreated with cyclosporine, and no clinical signs were detected in them throughout the 14-day observation period. The control dog was clinically normal and had a normal rectal temperature throughout the study period. We attempted to detect rickettsial DNA from peripheral blood and aspiration samples from kidney and spleen by nested PCR, but all samples examined were negative. The control dog lacked detectable titers toR. japonicaantigen on day 14, while positive antibodies toR. japonicawere detected in all four experimentally infected dogs, with titers of 1:160 to 1:80. In the epidemiologic survey, 24 (1.8%) of the 1,363 dogs examined throughout Japan had antibodies againstR. japonica, with titers of 1:40 or more. However, we observed neither clinical signs at the time of sample collection nor nested PCR results indicative of rickettsial infection in these dogs. In conclusion, dogs in Japan can be exposed toR. japonica, and infected dogs with immunosuppressive conditions can temporarily develop clinical symptoms, including fever, anorexia, depression, and decreased water consumption.
Simultaneous Analysis of Multiple Enzymes Increases Accuracy of Pulsed-Field Gel Electrophoresis in Assigning Genetic Relationships among Homogeneous
Salmonella
Strains
Authors: Zheng Jie , Keys Christine E. , Zhao Shaohua , Ahmed Rafiq , Meng Jianghong , Brown Eric W. 
Published: October 2010

ABSTRACT

Due to a highly homogeneous genetic composition, the subtyping of
Salmonella enterica
serovar Enteritidis strains to an epidemiologically relevant level remains intangible for pulsed-field gel electrophoresis (PFGE). We reported previously on a highly discriminatory PFGE-based subtyping scheme for
S. enterica
serovar Enteritidis that relies on a single combined cluster analysis of multiple restriction enzymes. However, the ability of a subtyping method to correctly infer genetic relatedness among outbreak strains is also essential for effective molecular epidemiological traceback. In this study, genetic and phylogenetic analyses were performed to assess whether concatenated enzyme methods can cluster closely related salmonellae into epidemiologically relevant hierarchies. PFGE profiles were generated by use of six restriction enzymes (XbaI, BlnI, SpeI, SfiI, PacI, and NotI) for 74 strains each of
S. enterica
serovar Enteritidis and
S. enterica
serovar Typhimurium. Correlation analysis of Dice similarity coefficients for all pairwise strain comparisons underscored the importance of combining multiple enzymes for the accurate assignment of genetic relatedness among
Salmonella
strains. The mean correlation increased from 81% and 41% for single-enzyme PFGE up to 99% and 96% for five-enzyme combined PFGE for
S. enterica
serovar Enteritidis and
S. enterica
serovar Typhimurium strains, respectively. Data regressions approached 100% correlation among Dice similarities for
S. enterica
serovar Enteritidis and
S. enterica
serovar Typhimurium strains when a minimum of six enzymes were concatenated. Phylogenetic congruence measures singled out XbaI, BlnI, SfiI, and PacI as most concordant for
S. enterica
serovar Enteritidis, while XbaI, BlnI, and SpeI were most concordant among
S. enterica
serovar Typhimurium strains. Together, these data indicate that PFGE coupled with sufficient enzyme numbers and combinations is capable of discerning accurate genetic relationships among
Salmonella
serovars comprising highly homogeneous strain complexes.
Antimicrobial Susceptibility Testing and Profiling of
Nocardia
Species and Other Aerobic Actinomycetes from South Africa: Comparative Evaluation of Broth Microdilution versus the Etest
Authors: Lowman Warren , Aithma Naseema 
Published: October 2010

ABSTRACT

Nocardiosis is an underrecognized clinical entity in South Africa, for which interspecies epidemiological and clinical differences are poorly understood. The taxonomical state of flux and the lack of a simple antimicrobial susceptibility testing method are partly responsible. Definitive identification is molecularly based, which further complicates the study of this ubiquitous organism, as this methodology is beyond the scope of most routine diagnostic laboratories. The Etest methodology has been proposed as an alternative to the reference broth microdilution method, although there have been a limited number of comparative studies. We profiled 51 clinical isolates of aerobic actinomycetes, including 39
Nocardia
species, using sequence-based (16S rRNA) identification. Broth microdilution and Etests were done concurrently on all isolates. The overall level of categorical and essential agreement for broth microdilution and Etest for the
Nocardia
isolates ranged from 67.5 to 100% and 46.2 to 81.6%, respectively. Very major errors were seen with amikacin, amoxicillin-clavulanate, ciprofloxacin, clarithromycin, and imipenem. For
Nocardia
species, uniform susceptibility to co-trimoxazole, amikacin, and linezolid was demonstrated, with a 48.8% susceptibility rate to imipenem.
Nocardia farcinica
(20.5%) and
Nocardia cyriacigeorgica
(15.4%) were the most commonly identified species among the 82% of isolates identified to species level using 16S rRNA sequences. Furthermore, drug susceptibility patterns demonstrated limited concordance with species identification. Our results suggest that, in a routine diagnostic setting, the Etest is not an acceptable alternative to the reference method of broth microdilution for antimicrobial susceptibility testing. Given the diversity and limited understanding of this group of organisms, further widespread evaluation of clinical isolates, from both clinical and diagnostic perspectives, is warranted.
Insertion Sequences as Highly Resolutive Genomic Markers for Sequence Type 1Legionella pneumophilaParis
Authors: Vergnes Mike , Ginevra Christophe , Kay Elisabeth , Normand Philippe , Thioulouse Jean , Jarraud Sophie , Maurin Max , Schneider Dominique 
Published: October 2010

ABSTRACTThe causative agent of legionellosis,Legionella pneumophila, colonizes all natural and human-made water networks, thus constituting the source of contaminated aerosols responsible for airborne human infections. Efficient control of infections, especially during epidemics, necessitates the fastest and most resolutive identification possible of the bacterial source for subsequent disinfection of reservoirs. We thus compared recognized typing approaches forLegionellawith a method based on characterization of insertion sequence (IS) content. A total of 86 clinical or environmental isolates ofL. pneumophila, including 84 Paris isolates, sampled from 25 clinical investigations in France between 2001 and 2007, were obtained from theLegionellaNational Reference Center. All strains were typed by monoclonal antibody subgrouping, sequence-based typing, pulsed-field gel electrophoresis, and restriction fragment length polymorphism based on the presence or absence of IS elements. We identified six different types of IS elements inL. pneumophilaParis and used them as genomic markers in hybridization experiments. One IS type, ISLpn11, revealed a high discriminatory power. Simpson's index of discrimination, calculated from the distribution of IS elements, was higher than that obtained with the other typing methods used forL. pneumophilaParis. Moreover, specific ISLpn11copies were found only in strains isolated from particular cities. In more than half of the cases, each clinical isolate had an ISLpn11profile that was recovered in at least one environmental isolate from the same geographical location, suggesting that our method could identify the infection source. Phylogenetic analysis suggests a clonal expansion for theL. pneumophilaParis strain.
Analyses of Pediatric Isolates of
Cryptococcus neoformans
from South Africa
Authors: Miglia Kathleen J. , Govender Nelesh P. , Rossouw Jenny , Meiring Susan , Mitchell Thomas G. 
Published: October 2010

ABSTRACT

Compared to the incidence in adults, cryptococcosis is inexplicably rare among children, even in sub-Saharan Africa, which has the highest prevalence of coinfection with HIV and
Cryptococcus neoformans
. To explore any mycological basis for this age-related difference in the incidence of cryptococcosis, we investigated isolates of
C. neoformans
recovered from pediatric and adult patients during a 2-year period in South Africa. From reports to the Group for Enteric, Respiratory, and Meningeal Disease Surveillance in South Africa (GERMS-SA), we reviewed all cases of cryptococcosis in 2005 and 2006. We analyzed one isolate of
C. neoformans
from each of 82 pediatric patients (<15 years of age) and determined the multilocus sequence type (ST), mating type, ploidy, and allelic profile. This sample included isolates of all three molecular types of serotype A or
C. neoformans
var.
grubii
(molecular types VNI, VNII, and VNB) and one AD hybrid. Seventy-seven (94%) of the strains possessed the
MAT
α mating type allele, and five were
MAT
a.
Seventy-five (91%) were haploid, and seven were diploid. A total of 24 different STs were identified. The ratios of each mating type and the proportion of haploids were comparable to those for the isolates that were obtained from 86 adult patients during the same period. Notably, the most prevalent pediatric ST was significantly associated with male patients. Overall, these pediatric isolates exhibited high genotypic diversity. They included a relatively large percentage of diploids and the rarely reported
MAT
a
mating type.
Comparative Evaluation of the Roche Cobas AmpliPrep/Cobas TaqMan HIV-1 Version 2 Test Using the TaqMan 48 Analyzer and the Abbott RealTi
m
e HIV-1 Assay
Authors: van Rensburg Estrelita Janse , Tait Karen , Watt Alistair , Schall Robert 
Published: October 2010

ABSTRACT

Acceptable precision was achieved in a comparison study of the Abbott RealTi
m
e (RT) and Roche CAP/CTM-48 V2 HIV-1 assays, but viral load quantification was under- and overestimated, respectively, compared to the 2nd HIV-1 WHO International Standard. The same quantification patterns were observed for patient cohorts from Africa and the United States.
Development of a Multilocus Sequence Tool for Typing
Cryptosporidium muris
and
Cryptosporidium andersoni
Authors: Feng Yaoyu , Yang Wenli , Ryan Una , Zhang Longxian , Kváč Martin , Koudela Břetislav , Modrý David , Li Na , Fayer Ronald , Xiao Lihua 
Published: October 2010

ABSTRACT

Although widely used for the characterization of the transmission of intestinal
Cryptosporidium
spp., genotyping tools are not available for
C. muris
and
C. andersoni
, two of the most common gastric
Cryptosporidium
spp. infecting mammals. In this study, we screened the
C. muris
whole-genome sequencing data for microsatellite and minisatellite sequences. Among the 13 potential loci (6 microsatellite and 7 minisatellite loci) evaluated by PCR and DNA sequencing, 4 were eventually chosen. DNA sequence analyses of 27
C. muris
and 17
C. andersoni
DNA preparations showed the presence of 5 to 10 subtypes of
C. muris
and 1 to 4 subtypes of
C. andersoni
at each locus. Altogether, 11
C. muris
and 7
C. andersoni
multilocus sequence typing (MLST) subtypes were detected among the 16
C. muris
and 12
C. andersoni
specimens successfully sequenced at all four loci. In all analyses, the
C. muris
isolate (TS03) that originated from an East African mole rat differed significantly from other
C. muris
isolates, approaching the extent of genetic differences between
C. muris
and
C. andersoni
. Thus, an MLST technique was developed for the high-resolution typing of
C. muris
and
C. andersoni
. It should be useful for the characterization of the population genetics and transmission of gastric
Cryptosporidium
spp.
Meningitis Due to
Providencia stuartii
Authors: Sipahi Oguz Resat , Bardak-Ozcem Selin , Ozgiray Erkin , Aydemir Sohret , Yurtseven Taskin , Yamazhan Tansu , Tasbakan Meltem , Ulusoy Sercan 
Published: October 2010

ABSTRACT

In this report, we present a case of postneurosurgical meningitis due to
Providencia stuartii
, which was treated successfully with meropenem therapy lasting 21 days.
Improved Selective and Differential Medium for Isolation of
Escherichia coli
O157:H7
Authors: Park Sang-Hyun , Ryu Sangryeol , Kang Dong-Hyun 
Published: October 2010

ABSTRACT

GMAC, a modified version of Sorbitol MacConkey medium (SMAC), was produced with a reduced quantity of selective agents and incorporated gentiobiose. GMAC supported a higher recovery rate of heat- or acid-injured
Escherichia coli
O157:H7 cells than SMAC with cefixime and tellurite (CT-SMAC), while differentiating
E. coli
O157:H7 from sorbitol-nonfermenting
Hafnia alvei
.
Mixed-Strain
Mycobacterium tuberculosis
Infections among Patients Dying in a Hospital in KwaZulu-Natal, South Africa
Authors: Cohen Ted , Wilson Douglas , Wallengren Kristina , Samuel Elizabeth Y. , Murray Megan 
Published: October 2010

ABSTRACT

We performed spoligotyping and 24-locus mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (MIRU-VNTR) typing on
M. tuberculosis
culture-positive biopsy specimens collected from adults dying in a hospital in KwaZulu-Natal. Of 56 culture-positive samples genotyped, we detected mixed strains in five (9%) and clonal heterogeneity in an additional four (7%).
Emergence of a Unique Penicillin-Resistant
Streptococcus pneumoniae
Serogroup 35 Strain
Authors: Stanek Ronald J. , Maher Mary B. , Norton Nancy B. , Mufson Maurice A. 
Published: October 2010

ABSTRACT

We analyzed seven
Streptococcus pneumoniae
serogroup 35 isolates by pulsed-field gel electrophoresis of the genome and
pbp2b
gene nucleotide sequences. Three penicillin-susceptible strains and one penicillin-intermediate-resistant strain exhibited 100% identity to prototype R6. Two resistant strains and one other intermediate strain differed from them and contained a unique sequence.
Toward Molecular Parasitologic Diagnosis: Enhanced Diagnostic Sensitivity for Filarial Infections in Mobile Populations
Authors: Fink Doran L. , Fahle Gary A. , Fischer Steven , Fedorko Daniel F. , Nutman Thomas B. 
Published: October 2010

ABSTRACT

The diagnosis of filarial infections among individuals residing in areas where the disease is not endemic requires both strong clinical suspicion and expert training in infrequently practiced parasitological methods. Recently developed filarial molecular diagnostic assays are highly sensitive and specific but have limited availability and have not been closely evaluated for clinical use outside populations residing in areas of endemicity. In this study, we assessed the performance of a panel of real-time PCR assays for the four most common human filarial pathogens among blood and tissue samples collected from a cohort of patients undergoing evaluation for suspected filarial infections. Compared to blood filtration, real-time PCR was equally sensitive for the detection of microfilaremia due to
Wuchereria
bancrofti
(2 of 46 samples positive by both blood filtration and PCR with no discordant results) and
L
oa
loa
(24 of 208 samples positive by both blood filtration and PCR, 4 samples positive by PCR only, and 3 samples positive by blood filtration only). Real-time PCR of skin snip samples was significantly more sensitive than microscopic examination for the detection of
Onchocerca
volvulus
microfiladermia (2 of 218 samples positive by both microscopy and PCR and 12 samples positive by PCR only). The molecular assays required smaller amounts of blood and tissue than conventional methods and could be performed by laboratory personnel without specialized parasitology training. Taken together, these data demonstrate the utility of the molecular diagnosis of filarial infections in mobile populations.
Comparison of Real-Time PCR Techniques to Cytotoxigenic Culture Methods for Diagnosing
Clostridium difficile
Infection
Authors: Knetsch C. W. , Bakker D. , de Boer R. F. , Sanders I. , Hofs S. , Kooistra-Smid A. M. D. , Corver J. , Eastwood K. , Wilcox M. H. , Kuijper E. J. 
Published: October 2010

ABSTRACT

In the past decade, the incidence of
Clostridium difficile
infections (CDI) with a more severe course has increased in Europe and North America. Assays that are capable of rapidly diagnosing CDI are essential. Two real-time PCRs (LUMC and LvI) targeting
C. difficile
toxin genes (
tcdB
, and
tcdA
and
tcdB
, respectively) were compared with the BD GeneOhm PCR (targeting the
tcdB
gene), using cytotoxigenic culture as a gold standard. In addition, a real-time PCR targeting the
tcdC
frameshift mutation at position 117 (Δ117 PCR) was evaluated for detecting toxigenic
C. difficile
and the presence of PCR ribotype 027 in stool samples. In total, 526 diarrheal samples were prospectively collected and included in the study. Compared with those for cytotoxigenic culture, sensitivity, specificity, positive predicted value (PPV), and negative predicted value (NPV) were for PCR LUMC 96.0%, 88.0%, 66.0%, and 98.9%, for PCR LvI 100.0%, 89.4%, 69.7%, and 100.0%, for PCR Δ117 98.0%, 90.7%, 71.9%, and 99.5%, and for PCR BD GeneOhm 88.3%, 96.9%, 86.5%, and 97.4%. Compared to those with feces samples cultured positive for
C. difficile
type 027, the sensitivity, specificity, PPV, and NPV of the Δ117 PCR were 95.2%, 96.2%, 87.0%, and 98.7%. We conclude that all real-time PCRs can be applied as a first screening test in an algorithm for diagnosing CDI. However, the low PPVs hinder the use of the assays as stand-alone tests. Furthermore, the Δ117 PCR may provide valuable information for minimizing the spread of the epidemic
C. difficile
PCR ribotype 027.