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At least 127 records · Page 7Linked to original sources
PubMed1999

Non-O157:H7 pathogenic Shiga toxin-producing Escherichia coli: phenotypic and genetic profiling of virulence traits and evidence for clonality.

The virulence profiles of most non-O157 Shiga toxin (Stx)-producing Escherichia coli (STEC) are unknown. STEC belonging to serogroups O26, O103, and O111 were characterized to determine clonality and to profile virulence traits. Isolates within STEC serogroups O26, O111, and O103 were >80% identical in their randomly amplified polymorphic DNA pattern, suggesting clonality in these serogroups. The serogroups were distantly related to each other and to E. coli O157:H7. stx restriction fragment length polymorphism differentiated some STEC with the same randomly amplified polymorphic DNA pattern. The hemolytic phenotype of STEC O103:H2 isolates resembled that of alpha- and not enterohemorrhagic E. coli hemolysin. Virulence gene (eae, E-hly, espP, etp, katP, stx) probing demonstrated serogroup-specific profiles. Pathogenic STEC O26, O103, and O111 belong to their own lineages and have unique profiles of virulence traits that are different from the virulence profile of E. coli O157:H7.

Bacterial Toxins↗
PubMed2005

Genetic profiling reveals global changes in multiple biological pathways in the hearts of Na, K-ATPase alpha 1 isoform haploinsufficient mice.

The Na,K-ATPase transports three sodium ions out of the cell and two potassium ions into the cell using ATP hydrolysis for energy. The ion gradient formed by the Na,K-ATPase contributes to the resting membrane potential, maintains cellular excitability and is important for glucose and amino acid uptake in the cell. The alpha1 catalytic isoform is expressed in virtually all cell types. We have previously examined cardiac physiology of mice lacking one copy of the alpha1 isoform gene of the Na,K-ATPase. The observation of reduced cardiac contractility in the alpha1 heterozygous mice was unexpected since mice heterozygous for the alpha2 isoform displayed enhanced cardiac contractility similar to what would be observed with cardiac glycoside treatment. We further examined hearts from alpha1 heterozygous mice to identify genomic responses to reduced Na,K-ATPase capacity. Using microarray analyses, we identified groups of genes whose expressions were perturbed in the alpha1 heterozygous hearts compared to wild-type. Known functional relationships of these genes suggest that multiple biological pathways are altered by alpha1 hemizygosity including activation of the renin-angiotensin system, changes in genes of energy metabolism and transport and elevated brain natriuretic peptide. This suggests that Na,K-ATPase alpha1 isoform activity may be required in numerous cellular processes.

Aldosterone↗
PubMed2005

The Kintamani dog: genetic profile of an emerging breed from Bali, Indonesia.

The Kintamani dog is an evolving breed indigenous to the Kintamani region of Bali. Kintamani dogs cohabitate with feral Bali street dogs, although folklore has the breed originating 600 years ago from a Chinese Chow Chow. The physical and personality characteristics of the Kintamani dog make it a popular pet for the Balinese, and efforts are currently under way to have the dog accepted by the Federation Cynologique Internationale as a recognized breed. To study the genetic background of the Kintamani dog, 31 highly polymorphic short tandem repeat markers were analyzed in Kintamani dogs, Bali street dogs, Australian dingoes, and nine American Kennel Club (AKC) recognized breeds of Asian or European origin. The Kintamani dog was identical to the Bali street dog at all but three loci. The Bali street dog and Kintamani dog were most closely aligned with the Australian dingo and distantly related to AKC recognized breeds of Asian but not European origin. Therefore, the Kintamani dog has evolved from Balinese feral dogs with little loss of genetic diversity.

Alleles↗
PubMedDate not supplied

[Clinical and genetic profile of patients with medullary thyroid cancer treated in the Cancer Centre--Institute of Oncology in Warsaw].

INTRODUCTION: The aim of this study was to analyse the distribution and frequency of mutations and their correlations with clinical phenotypes of patients with MTC, to reveal the differences between sporadic and familial type of MTC, and to describe the phenotypes of patients. MATERIALS AND METHODS: 212 patients with medullary thyroid cancer (MTC) were treated in Cancer Centre in Warsaw between 1997 and 2005. In most patients, DNA isolated from peripheral blood leukocytes was tested for RET gene mutations by sequencing and accordingly MTC form was assessed. Genetic testing was performed in the relatives of patients with familial MTC in order to distinguish asymptomatic mutation carriers from noncarriers. RESULTS: RET gene mutations were identified in 46 patients (22%). The others were found noncarriers and sporadic MTC was diagnosed. MEN 2A/FMTC syndrome (multiple endocrine neoplasia type 2A/ familial type of MTC) was diagnosed in 44 patients, MEN 2B syndrome (multiple endocrine neoplasia type 2B) in 2 patients. In patients with sporadic and familial MTC, age at diagnosis and multifocal occurrence was analysed, and the results were found to be in accordance with those of other research centres. However, the distribution and frequency of mutations, as well as some clinical data, such as the frequency of pheochromocytoma occurrence as the first manifestation of MEN syndrome, differed from the published data, and further studies are necessary to reveal the reasons of these differences. CONCLUSIONS: DNA testing for RET gene mutations is reliable as a diagnostic tool and therefore it should be performed for screening of all patients with MTC or other diseases of MEN syndrome.

Adolescent↗
PubMed1997

Genetic profiles of newly inbred Dahl/Iwai salt-sensitive and salt-resistant rats.

Dahl-Iwai salt-sensitive (S) and salt-resistant (R) rat strains were established as inbred strains at Brookhaven National Laboratory, NY, and were introduced into Eisai Co., Ltd., Japan, and designated DIS/Eis and DIR/Eis. To examine whether there are different allele distributions among the substrains of inbred Dahl S and R rats, we determined biochemical and immunological alleles of DIS/Eis and DIR/Eis, and SS/Sea and SR/Sea, which were derived from SS/Jr and SR/Jr, which were developed by Rapp and Dene. Several differences of allele distribution were observed, indicating that the substrains have different genetic backgrounds. The phenotypic differences between the substrains, such as the severity of the hypertension induced, could be ascribed to the different genetic backgrounds.

Alleles↗
PubMed2006

Genetic profiling of epithelial cells expressing E-cadherin repressors reveals a distinct role for Snail, Slug, and E47 factors in epithelial-mesenchymal transition.

The transcription factors Snail, Slug, and bHLH E47 have been recently described as direct repressors of E-cadherin and inducers of epithelial-mesenchymal transition (EMT) and invasion when overexpressed in epithelial cells. Although a role of those factors in tumor progression and invasion has been proposed, whether the different repressors play distinct or redundant roles in the tumorigenic process has not been established. To further investigate this important issue, we have analyzed the gene expression profiling of Madin-Darby canine kidney (MDCK) epithelial cells expressing the different repressors (MDCK-Snail, MDCK-Slug, and MDCK-E47 cells) versus control MDCK cells by cDNA microarrays. A total of 243 clones (228 genes and 15 expressed sequence tags) were found to be differentially expressed between either of the three MDCK-derived cell lines and control MDCK cells. Twenty two of the candidate genes were validated by Northern blot, Western blot, immunofluorescence, and promoter analyses in cell lines and by immunohistochemistry in xenografted tumors. Gene clustering analysis indicated that about a third of the 243 candidate genes were common to MDCK cells expressing Snail, Slug, or E47 factors, whereas the rest of the genes were regulated in only one or two cell types. Differentially regulated genes include those related to EMT (45 genes), transcriptional regulation (18 genes), cell proliferation and signaling (54 genes), apoptosis (12 genes), and angiogenesis (9 genes). These results indicate that Snail, Slug, and E47 transcription factors induce common and specific genetic programs, supporting a differential role of the factors in tumor progression and invasion.

Animals↗
PubMed2005

Genetic profile of total body energy content of Holstein cows in the first three lactations.

Weekly total body energy content (TBEC) was calculated for 444 Holstein cows in their first 3 lactations. These calculations were based on body lipid and protein changes predicted from weekly changes in body condition score and live weight of each cow. In first lactation, cows lost TBEC during the initial 8 wk, regained it by wk 22, and continued to build up their reserves until wk 37. Cows started lactations 2 and 3 with considerable reserves from the dry period that they used during the first 13 wk of lactation. Variance components for TBEC were estimated using random regression analysis allowing for heterogeneous residual variance. The genetic variance increased within each lactation, suggesting that the genetic component becomes more important as lactation progresses. The genetic correlations between very early (wk 1 to 4) and later stages of first lactation were near zero but they increased considerably between later lactation stages. Genetic correlations between TBEC on wk 5 of first lactation and the remainder of this lactation ranged from 0.64 for the more distant weeks to 0.99 for the immediately subsequent weeks. Genetic correlations with TBEC in second lactation were moderately high (0.68 to 0.70) for the early weeks (1 to 8) and decreased gradually to 0.56 for weeks at the end of lactation. For third lactation, these estimates ranged from 0.53 to 0.63. Genetic correlation estimates of TBEC in wk 12 of first lactation with subsequent first-lactation weeks varied from 0.79 to 0.99, whereas they ranged from 0.65 to 0.77 and from 0.57 to 0.68 in second and third lactations, respectively. The genetic correlation between TBEC in later weeks of first lactation and the rest of productive life increased as first lactation progressed, but the improvement diminished. Weekly genetic evaluations for first-lactation TBEC were used to predict second- and third-lactation energy content. The accuracy of these predictions increased with progressing weeks in first lactation, but about three-fourths of the improvement occurred by wk 5. Our results suggest that TBEC calculated after a month from the first calving may give useful information about the future energy content of a cow.

Animals↗
PubMed2002

Genetic profile of a multi-ethnic population from Guiné-Bissau (west African coast) using the new PowerPlex 16 System kit.

Allele and haplotype frequencies of 15 chromosome STR loci included in the kit PowerPlex16 System from Promega, were determined in a sample of unrelated males from Guiné-Bissau, a country from the west African coast. All individuals were subjected to an interview in order to make sure that their ancestors belonged to the same ethnic group. This way we intended to look for possible inter-ethnic differences. PowerPlex 16 includes STRs not studied before in any multi-ethnic population. The kit includes two new allele markers (Penta D and Penta E), which are very useful either in forensics or population genetic studies. The Guinean population presents significant differences when compared with other African populations.

Africa, Western↗
PubMed2006

Genetic profiling as a marker for risk of sudden cardiac death.

PURPOSE OF REVIEW: Clinical trials provide evidence that an empirical approach of implantable cardioverter-defibrillator implantation in all heart failure patients (ejection fraction </= 35%) with mild to moderate symptoms effectively reduces mortality rate as compared to the best available medical therapy. At least 50% of patients, however, will succumb to a non-arrhythmic demise and over half of all patients will not require device therapy over long-term follow-up. Thus, the approach of empiric implantable cardioverter-defibrillator implantation is costly in light of the considerable expense of device cost, implantation, and patient follow-up. This review discusses the prospect of genomic medicine as an approach to assess genetic susceptibility to sudden arrhythmic death in at-risk populations. RECENT FINDINGS: Through the past 10 years of primary prevention implantable cardioverter-defibrillator trials, the number of patients needed to treat to prevent a sudden death has risen from one in four patients to one in 14. Although numerous clinical tests exist for stratification, they are of low positive predictive value in assessing arrhythmic risk, and have not been prospectively validated as effective strategies in identifying arrhythmia-prone patients. Recent data from genetic studies identifying genes responsible for sudden cardiac death have compiled a list of relatively common genetic variations (polymorphisms). These polymorphisms, encoding for proteins known to be involved in cardiac electrophysiology, may contribute to arrhythmic risk in the milieu of heart failure. SUMMARY: Current clinical indications for implantable cardioverter-defibrillator implantation in primary prophylaxis of sudden cardiac death necessarily include a significant number of patients who may not benefit. The identification of common genetic variations causing an increased risk of vulnerability to ventricular arrhythmia in heart failure patients may optimize the use of medical resources through rapid identification of sub-populations at highest risk.

Arrhythmias, Cardiac↗
PubMed2000

[Mucopolysaccharidosis type I in Morocco: clinical features and genetic profile].

BACKGROUND: Mucopolysaccharidoses (MPS) are inherited metabolic disorders due to lysosomal enzyme deficiencies, leading to glycosaminoglycan accumulation in lysosomes of different tissues. The aim of this study was to characterize MPS types, particularly MPS I, which are difficult to differentiate by clinical features. PATIENTS AND METHODS: Over a period of three years (June 1996-May 1999), 16 Moroccan patients (3-20 years old) with MPS were investigated. Twelve of them came from the Souss region. In subjects with suspected clinical MPS I or II, the diagnosis was confirmed by biochemical investigations, which included the quantification of total glycosaminoglycans (GAGs) released in urine, their identification, and the assay of alpha-L-iduronidase activity in leucocytes. A molecular analysis was performed in parallel, to provide the genetic proof of the diagnosis. RESULTS: These 16 patients belonged to 12 families, nine of which were consanguineous (75%). Twelve patients had Hurler syndrome and three had Hurler/Scheie's syndrome; no case of Scheie's syndrome was observed. Short stature, coarse face, organomegaly, hernia, cardiac disease, mental delay and dysostosis were observed in variable degrees. We report three cases without corneal clouding. Increased total urinary GAGs, identified as dermatan sulfate and heparan sulfate by thin-layer chromatography and total deficiency of alpha-L-iduronidase activity, were noted in studied subjects. At the molecular level the P533R mutation was detected in 24 among 26 alleles studied. CONCLUSION: It is now possible to perform the screening of MPS I and II in Morocco by analysis of clinical, radiologic observations and biological investigation. The predominance of P533R mutation could permit the screening of healthy heterozygotes and genetic counselling for families of Moroccan descent.

Adolescent↗
PubMed2005

Genetic profiling of Campylobacter jejuni strains from humans infected in Sweden or in Thailand, and from healthy Swedish chickens, studied by pulsed-field gel electrophoresis (PFGE).

The major objective of the study was to explore the genomic diversity between Campylobacter jejuni (C.jejuni) from different sources as a tool for epidemiological considerations. Subtyping was performed using pulsed-field gel electrophoresis (PFGE) and the enzyme used for cleavage was SmaI. Isolates originated from humans infected in Sweden (n=49) and Thailand (n=32) and from healthy Swedish chickens (n=51). Eight PFGE groups were formed in a dendrogram and 48% of the isolates belonged to 1 of these groups. In 2 PFGE groups, strains from humans infected in both Sweden and Thailand were represented. Four of the PFGE groups comprised high frequencies of strains from domestic human infection, as well as from healthy chickens. The PFGE pattern was also compared with the antibiotic resistance pattern in all the above-mentioned isolates. In conclusion, C.jejuni was a diverse group based on PFGE genotyping; about 24% of the clones from Swedish patients and healthy Swedish chickens were similar; and there was no correlation between the antibiotic resistance pattern and the PFGE profiling among the studied strains. Our findings are also in accordance with our hypothesis that there may be similarities between Swedish and Thai strains, which might support a theory of globally occurring C.jejuni.

Animals↗
PubMedDate not supplied

Genetic profiling versus drug rotation in the optimisation of antihypertensive treatment.

There is a greater choice of drug classes for hypertension than most other diseases, increasing paradoxically the difficulty of finding the right drug for individual patients. Systematic drug rotation studies have shown that the rank order of response to different drugs varies substantially among patients. However, two broad patterns of response emerge, named after the initials of the major drug classes. The AB pattern is seen in Type 1 (high-renin) hypertensives. These are younger Caucasians who respond best to angiotensin-converting enzyme (ACE) inhibitors, angiotensin blockers and beta-blockers. The CD pattern is seen in Type 2 (low-renin) patients. These are Afro-Caribbeans and older Caucasians, who respond best to calcium blockers and diuretics. This relative homogeneity of phenotype at each age group contrasts with a large heterogeneity of genotype on recent genome-wide scans, and suggests that most hypertension is due to interaction among multiple minor genetic variants. Genotype is unlikely therefore to be useful in selecting treatment for most patients. The exception is patients who have the atypical phenotype for their age, illustrated by the rare Na+ dependent monogenic syndromes of the young.

Diuretics↗
PubMed1988

Genetic profile of the transcriptional signals from the adenovirus major late promoter.

Identical functional profiles were obtained for in vivo and in vitro transcription assays of more than 30 site-directed point mutants within the adenovirus major late promoter. The functional limits of the functional regions encompassing upstream promoter element are defined (-51 to -61), as well as a region around the transcription start site (-1 to +1), flanked by regions insensitive to sequence alterations.

Adenoviridae↗
PubMed1993

Genetic profiles of morphine-induced EEG, EEG power spectra, and behavior in two inbred rat strains.

The purpose of the present study was to examine and compare the effects of morphine at doses of 3, 10, and 30 mg/kg, IV, on EEG, EEG power spectra, and behavior in two inbred rat strains, Lewis and Fischer 344. Duration of morphine-induced EEG slow-wave bursts and associated behavioral stupor was greater in Lewis rats. Latency to slow-wave sleep increased in a dose-related manner for both strains; differences were not significant between the two groups. The analog EEG signal was transformed by fast Fourier analysis; six power spectral quantities were examined: peak frequency, complexity, mobility, mean frequency, edge frequency, and total power. With the exception of peak frequency and edge frequency, all differed as a function of inbred rat strain. Regarding morphine dose, all spectral parameters differed except peak frequency. Factor analysis on morphine-induced EEG revealed a unique factor for each strain that was bipolar in nature and may be associated with the burst and interburst periods that occur in EEG after opiate administration. Genetic variability appears to play a role in the behavioral, EEG, and derived power spectral responses of both LEW and F344 inbred rat strains following acute morphine administration. These results may reflect differences in neurosensitivity and/or opioid receptor populations between Lewis and Fischer 344 inbred rat strains.

Animals↗
PubMed2005

Antimicrobial susceptibility, biochemical and genetic profiles of Staphylococcus haemolyticus strains isolated from the bloodstream of patients hospitalized in critical care units.

Staphylococcus haemolyticus strains (n=20), responsible of blood stream infections, were consecutively isolated from patients hospitalized in two different wards at high risk of infection. Strains displayed high rate of resistance to oxacillin (90%). All strains but two with decreased susceptibility (MIC = 4 microg/mL), were sensitive to vancomycin. Ten strains were resistant to teicoplanin. Among the strains susceptible to glycopeptides, three displayed heteroresistance to vancomycin and seven to teicoplanin, when tested by Etest technique with 2 x McFarland inoculum. Biochemical reactions allowed to assign strains to eight biotypes, with 11 strains clustering under two main biotype A and biotype B. Pulsed-field-gel-electrophoresis (PFGE) identified 11 different PFGE-types. Seven strains grouping under the major PFGE-type 1 and three strains clustering in PFGE-type 2, closely correlated to biotype A and biotype B respectively. Seven teicoplanin-resistant isolates clustered in the PFGE-type 1, two in the PFGE-type 2 and one in PFGE-type 5. Therefore, teicoplanin-resistant strains were biochemically and genetically related and clonally distributed, despite different clones of S. haemolyticus circulated in the units during the study period.

Adult↗
PubMed2006

Clinical, serologic, and genetic profiles of patients with associated Sjögren's syndrome and systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) can coexist in patients. The aim of this study was to investigate the clinical, laboratory, and serologic features of the association of the two diseases. Data from 56 patients having both SS and SLE were analyzed, with special emphasis on their clinical, laboratory, and serologic features. Data from 50 patients with SLE and 50 patients with SS served as control subjects. The mean age in SS-SLE group was lower than in patients with SS but higher than patients with SLE. When SLE and SS were associated, presence of rheumatoid factor was less frequent, whereas anti-Ro/SS-A, anti-La/SS-B, antinuclear, anti-DNA, and antiphospholipid autoantibodies appeared more often. Antiphospholipid syndrome, anemia, leucopenia, and lymphopenia were more frequent in the associated disease than in patients with SS alone. In SS-SLE patients, pulmonary, renal, skin, central nervous system involvement, and serositis occurred more often than in patients with SS alone. Thyroiditis, autoantibodies to Ro/SS-A, La/SS-B and ds-DNA was more frequent in the SS-SLE group than in patients with SLE. Genetic background of the patients did not differ significantly. In conclusion, characteristic clinical, laboratory and serologic features distinguish between the association of SS and SLE and the primary forms of these two diseases.

Adult↗
PubMed2003

Genetic profiling of a central Venezuelan population using 15 STR markers that may be of forensic importance.

The AmpFlSTR Identifiler kit has recently been accepted for use in DNA databasing of forensic samples in the FBI's National DNA Index System. In the present study, we used this kit to analyze the allele distribution of 15 short tandem repeat markers (STR) in individuals living in Caracas city, Venezuela. The allele frequencies of two of these STR, D2S1338 and D19S433, have not previously been reported for this or any other Latin American population. The results indicate that for the population here studied, the 15 STR tested are useful markers for paternity testing and forensic casework.

Alleles↗