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2543 records – page 1 of 255.

A 2-year entomological study of potential malaria vectors in central Italy.

https://arctichealth.org/en/permalink/ahliterature150651
Source
Vector Borne Zoonotic Dis. 2009 Dec;9(6):703-11
Publication Type
Article
Date
Dec-2009
Author
Marco Di Luca
Daniela Boccolini
Francesco Severini
Luciano Toma
Francesca Mancini Barbieri
Antonio Massa
Roberto Romi
Author Affiliation
Vector Borne Diseases and International Health Section, Department of Infectious, Parasitic, and Immuno-Mediated Diseases, Istituto Superiore di Sanità, Rome, Italy. marco.diluca@iss.it
Source
Vector Borne Zoonotic Dis. 2009 Dec;9(6):703-11
Date
Dec-2009
Language
English
Publication Type
Article
Keywords
Animals
Anopheles - genetics - parasitology - physiology
Culicidae - growth & development
Databases, Nucleic Acid
Ecosystem
Entomology
Female
Geography
Humans
Insect Vectors - genetics - parasitology - physiology
Italy
Longitudinal Studies
Malaria - parasitology - transmission
Polymerase Chain Reaction - veterinary
Population Density
Abstract
Europe was officially declared free from malaria in 1975; nevertheless, this disease remains a potential problem related to the presence of former vectors, belonging to the Anopheles maculipennis complex. Autochthonous-introduced malaria cases, recently reported in European countries, together with the predicted climatic and environmental changes, have increased the concern of health authorities over the possible resurgence of this disease in the Mediterranean Basin. In Italy, to study the distribution and bionomics of indigenous anopheline populations and to assess environmental parameters that could influence their dynamics, an entomological study was carried out in 2005-2006 in an at-risk study area. This model area is represented by the geographical region named the Maremma, a Tyrrhenian costal plain in Central Italy, where malaria was hyperendemic up to the 1950s. Fortnightly, entomological surveys (April-October) were carried out in four selected sites with different ecological features. Morphological and molecular characterization, blood meal identification, and parity rate assessment of the anophelines were performed. In total, 8274 mosquitoes were collected, 7691 of which were anophelines. Six Anopheles species were recorded, the most abundant of which were Anopheles labranchiae and An. maculipennis s.s. An. labranchiae is predominant in the coastal plain, where it is present in scattered foci. However, this species exhibits a wider than expected range: in fact it has been recorded, for the first time, inland where An. maculipennis s.s. is the most abundant species. Both species fed on a wide range of animal hosts, also showing a marked aggressiveness on humans, when available. Our findings demonstrated the high receptivity of the Maremma area, where the former malaria vector, An. labranchiae, occurs at different densities related to the kind of environment, climatic parameters, and anthropic activities.
PubMed ID
19485768 View in PubMed
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5-alpha-reductase 2 polymorphisms as risk factors in prostate cancer.

https://arctichealth.org/en/permalink/ahliterature19112
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Publication Type
Article
Date
Jun-2002
Author
Söderström T
Wadelius M
Andersson S-O
Johansson J-E
Johansson S
Granath F
Rane A
Author Affiliation
Department of Medical Sciences, Clinical Pharmacology, University Hospital, S-751 85 Uppsala, Sweden. torbjorn.soderstrom@lmk.ck.lul.se
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Date
Jun-2002
Language
English
Publication Type
Article
Keywords
Age Factors
Aged
Alleles
Case-Control Studies
Cell Differentiation
DNA - blood - metabolism
DNA Primers - chemistry
European Continental Ancestry Group
Genotype
Heterozygote
Humans
Male
Middle Aged
Neoplasm Staging
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Genetic
Prostate-Specific Antigen - metabolism
Prostatic Neoplasms - enzymology - etiology - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Testosterone 5-alpha-Reductase - genetics
Abstract
Prostate cancer is a significant cause of death in Western countries and is under the strong influence of androgens. The steroid 5alpha-reductase 2 catalyzes the metabolism of testosterone into the more potent androgen dihydrotestosterone in the prostate gland. The enzyme is a target in pharmacological treatment of benign prostatic hyperplasia using specific inhibitors such as finasteride. Makridakis et al. have characterized the V89L and A49T polymorphisms in recombinant expression systems. The L allelic variant has a lower Vmax/Km ratio than the V variant. In the A49T polymorphism, the T variant has an increased Vmax/Km ratio. We performed a population-based case-control study of the impact of the SRD5A2 V89L and A49T polymorphisms on the risk of prostate cancer. We also studied the relation between the genotypes and age at diagnosis, tumor, node, metastasis stage, differentiation grade, prostate specific antigen and heredity. The study included 175 prostate cancer patients and 159 healthy controls that were matched for age. There was an association with SRD5A2 V89L LL genotype and metastases at the time of diagnosis, OR 5.67 (95% CI 1.44-22.30) when adjusted for age, differentiation grade, T-stage and prostate specific antigen. Heterozygous prostate cancer cases that carried the SRD5A2 A49T AT genotype were significantly younger than cases that carried the AA genotype, (mean age 66 years vs 71, P = 0.038). The SRD5A2 V89L and A49T polymorphisms were, however, not associated with altered prostate cancer risk. Further studies of the V89L polymorphism may lead to better understanding of the etiology of prostate cancer metastases.
PubMed ID
12042668 View in PubMed
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A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
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18S rDNA polymerase chain reaction and sequencing in onychomycosis diagnostics.

https://arctichealth.org/en/permalink/ahliterature82167
Source
Acta Derm Venereol. 2006;86(3):223-6
Publication Type
Article
Date
2006
Author
Walberg Mette
Mørk Cato
Sandven Per
Jorde Anne Tomine
Bjørås Magnar
Gaustad Peter
Author Affiliation
Institute of Medical Microbiology, Rikshospitalet University Hospital, NO0027 Oslo, Norway. mette.walberg@labmed.uio.no
Source
Acta Derm Venereol. 2006;86(3):223-6
Date
2006
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Case-Control Studies
Child
Child, Preschool
DNA, Fungal - analysis
DNA, Ribosomal - analysis
Female
Humans
Male
Middle Aged
Norway
Onychomycosis - diagnosis - microbiology
Polymerase Chain Reaction - methods
Predictive value of tests
Trichophyton - genetics - isolation & purification
Abstract
Diagnostic approaches to onychomycosis have traditionally been based on a combination of culture and microscopy. In the present study clinical specimens from 346 patients with suspected onychomycosis were analysed by 18S polymerase chain reaction (detection) followed by sequencing and subsequent database search (identification) in parallel with routine culture on agar (detection and identification). In 49 samples Trichophyton rubrum was identified by culture and sequencing. In 67 additional culture negative samples, a positive dermatophyte sequence was obtained (T. rubrum in 54, T. mentagrophytes in 5, and T. species in 8 samples). Fifteen samples cultured positive while no sequence was obtained. Two hundred and seven samples were negative by culture as well as by sequencing. Nails from 10 healthy controls were negative by culture and sequencing. In conclusion, the number of specimens that were positive by polymerase chain reaction was more than double the number that were positive by culture alone.
PubMed ID
16710579 View in PubMed
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The -629C>A polymorphism in the CETP gene does not explain the association of TaqIB polymorphism with risk and age of myocardial infarction in Icelandic men.

https://arctichealth.org/en/permalink/ahliterature53840
Source
Atherosclerosis. 2001 Nov;159(1):187-92
Publication Type
Article
Date
Nov-2001
Author
G. Eiriksdottir
M K Bolla
B. Thorsson
G. Sigurdsson
S E Humphries
V. Gudnason
Author Affiliation
Molecular Genetics Laboratory, Hjartavernd, Icelandic Heart Association, Lagmuli 9, 108, Reykjavik, Iceland. gudny@hjarta.is
Source
Atherosclerosis. 2001 Nov;159(1):187-92
Date
Nov-2001
Language
English
Publication Type
Article
Keywords
Aged
Carrier Proteins - genetics
Gene Frequency
Genotype
Glycoproteins
Homozygote
Humans
Iceland
Linkage Disequilibrium
Lipids - blood
Lipoproteins, HDL Cholesterol - blood
Male
Myocardial Infarction - blood - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Promoter Regions (Genetics) - genetics
Prospective Studies
Research Support, Non-U.S. Gov't
Risk factors
Abstract
The aim of this study was to examine whether the well-established effect of the common TaqIB polymorphism in intron 1 of the gene for cholesterol ester transfer protein (CETP) on high density lipoprotein cholesterol (HDL-C) concentration and increased risk of myocardial infarction (MI), could be explained by the recently identified -629C>A functional polymorphism in the promoter. Non-fatal MI cases (388 male) and a control group of 794 healthy men were recruited from the 30 year long prospective Reykjavik Study. In the healthy men the frequency of the TaqIB B2 allele was 0.47 (95% CI: 0.44-0.50) and there was a strong allelic association with the -629A allele (D=-0.21, P
PubMed ID
11689220 View in PubMed
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677 C-->T polymorphism of the methylenetetrahydrofolate reductase gene and preeclampsia.

https://arctichealth.org/en/permalink/ahliterature197794
Source
Obstet Gynecol. 2000 Aug;96(2):277-80
Publication Type
Article
Date
Aug-2000
Author
H. Laivuori
R. Kaaja
O. Ylikorkala
T. Hiltunen
K. Kontula
Author Affiliation
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland. hannele.laivuori@pp.fimnet.fi
Source
Obstet Gynecol. 2000 Aug;96(2):277-80
Date
Aug-2000
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Amino Acid Substitution
Case-Control Studies
DNA Primers
Female
Finland
Gene Expression Regulation, Enzymologic
Gene Frequency
Genotype
Heterozygote
Humans
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases Acting on CH-NH Group Donors - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Pre-Eclampsia - enzymology - genetics
Pregnancy
Abstract
To evaluate C to T substitution at nucleotide 677 of N(5), N(10)-methylenetetrahydrofolate reductase gene in women with prior preeclamptic or normotensive pregnancies.
Methylenetetrahydrofolate reductase genotypes were determined in 113 Finnish women with preeclamptic first pregnancies and 103 controls with one or more normotensive pregnancies, using polymerase chain reaction and restriction enzyme analysis. Preeclampsia was defined as severe in 100 women who fulfilled one or more of the subsequent criteria: systolic blood pressure (BP) at least 160 mmHg, diastolic BP at least 110 mmHg, or proteinuria at least 2 g per 24-hour urine collection.
There were no significant differences in prevalences of the methylenetetrahydrofolate reductase genotypes (CC, CT, and TT) between groups (57%, 40%, and 3% in the preeclamptic group and 54%, 39%, and 7%, respectively, in controls). The frequency of the T677 allele was 0.23 in the preeclamptic group and 0.26 in the control group (difference 0.03; 95% confidence interval -0.08, 0.14; P =.51). Our sample had 60% power to detect a difference of the allele frequencies similar to that (0.12) reported previously. The result was similar when analysis was restricted to patients with severe preeclampsia (T677 allele frequency 0.22).
A carrier status for the T677 allele of the methylenetetrahydrofolate reductase gene does not predispose to preeclampsia, at least in the Finnish population.
PubMed ID
10908777 View in PubMed
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The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.

https://arctichealth.org/en/permalink/ahliterature153810
Source
Fam Cancer. 2009;8(1):1-4
Publication Type
Article
Date
2009
Author
Silvija Ozolina
Olga Sinicka
Eriks Jankevics
Inna Inashkina
Jan Lubinski
Bohdan Gorski
Jacek Gronwald
Tatyana Nasedkina
Olga Fedorova
Ludmila Lyubchenko
Laima Tihomirova
Author Affiliation
Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
Source
Fam Cancer. 2009;8(1):1-4
Date
2009
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Founder Effect
Genes, BRCA1
Genetic Predisposition to Disease
Haplotypes
Humans
Latvia
Male
Microsatellite Repeats
Mutation
Pedigree
Poland
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Russia
Abstract
Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
PubMed ID
19067236 View in PubMed
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Aberrant expression of the human epidermal growth factor receptor 2 oncogene is not a common feature in osteosarcoma.

https://arctichealth.org/en/permalink/ahliterature101871
Source
Hum Pathol. 2011 Jun;42(6):859-66
Publication Type
Article
Date
Jun-2011
Author
Daniel Baumhoer
Jan Smida
Katja Specht
Karin Bink
Leticia Quintanilla-Martinez
Michael Rosemann
Heide Siggelkow
Walter B J Nathrath
Michael J Atkinson
Stefan Bielack
Gernot Jundt
Michaela Nathrath
Author Affiliation
Institute of Pathology, University Hospital Basel, 4031 Basel, Switzerland. dbaumhoer@mac.com
Source
Hum Pathol. 2011 Jun;42(6):859-66
Date
Jun-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Bone Neoplasms - genetics - metabolism - pathology
Child
Child, Preschool
DNA, Neoplasm - analysis
Female
Gene Expression Regulation, Neoplastic - physiology
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Male
Middle Aged
Oligonucleotide Array Sequence Analysis
Osteosarcoma - genetics - metabolism - pathology
Polymorphism, Single Nucleotide
Prognosis
RNA, Messenger - metabolism
Receptor, erbB-2 - genetics - metabolism
Reverse Transcriptase Polymerase Chain Reaction
Tumor Markers, Biological - genetics - metabolism
Young Adult
Abstract
Human epidermal growth factor receptor 2 expression in osteosarcoma and its relationship to prognosis have been the subject of several conflicting reports, most of them relying on immunohistochemical studies. Because the urgent need of prognostic markers and effective new treatment options for osteosarcoma patients, we evaluated the role of human epidermal growth factor receptor 2 in 2 well-characterized sets of pretherapeutic osteosarcoma samples (46 paraffin-embedded and 46 fresh-frozen biopsy samples) using immunohistochemistry with 2 different antibodies [DAKO A0485 (Glostrup, Denmark) and Novocastra CB11 (Newcastle, UK)] as well as fluorescence in situ hybridization, real-time polymerase chain reaction, and SNP array analyses and correlated our findings with clinicopathological parameters. However, our study failed to detect unequivocal evidence of human epidermal growth factor receptor 2 gene amplification or overexpression of human epidermal growth factor receptor 2 messenger RNA or protein in any of the investigated tumors. Only in a small subset of samples, a moderate increase in messenger RNA levels (13.6%) or focal membranous immunoreactivity (8.7%; A0485) was detected but did not correlate with survival or response to chemotherapy. Cytoplasmic staining was identified more frequently (63%; CB11) but again did not show any association with clinicopathological parameters. In conclusion, our study does not support a role for human epidermal growth factor receptor 2 as a prognostic marker in osteosarcoma.
PubMed ID
21292304 View in PubMed
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Abeta oligomer-mediated long-term potentiation impairment involves protein phosphatase 1-dependent mechanisms.

https://arctichealth.org/en/permalink/ahliterature162439
Source
J Neurosci. 2007 Jul 18;27(29):7648-53
Publication Type
Article
Date
Jul-18-2007
Author
Marlen Knobloch
Mélissa Farinelli
Uwe Konietzko
Roger M Nitsch
Isabelle M Mansuy
Author Affiliation
Division of Psychiatry Research, University of Zurich, 8008 Zurich, Switzerland.
Source
J Neurosci. 2007 Jul 18;27(29):7648-53
Date
Jul-18-2007
Language
English
Publication Type
Article
Keywords
Age Factors
Amyloid Precursor Protein Secretases - genetics
Amyloid beta-Peptides - chemistry - metabolism - ultrastructure
Analysis of Variance
Animals
Calcium-Calmodulin-Dependent Protein Kinase Type 2
Calcium-Calmodulin-Dependent Protein Kinases - genetics
Dose-Response Relationship, Radiation
Electric Stimulation - methods
Excitatory Postsynaptic Potentials - drug effects - physiology
Gene Expression Regulation - genetics
Hippocampus - cytology
Humans
Long-Term Potentiation - genetics - physiology - radiation effects
Mice
Mice, Transgenic
Microscopy, Electron, Transmission - methods
Neurons - drug effects - physiology
Patch-Clamp Techniques
Phosphoprotein Phosphatases - physiology
Presenilin-1 - genetics
Protein Phosphatase 1
Reverse Transcriptase Polymerase Chain Reaction - methods
Abstract
Amyloid beta (Abeta) oligomers are derived from proteolytic cleavage of amyloid precursor protein (APP) and can impair memory and hippocampal long-term potentiation (LTP) in vivo and in vitro. They are recognized as the primary neurotoxic agents in Alzheimer's disease. The mechanisms underlying such toxicity on synaptic functions are complex and not fully understood. Here, we provide the first evidence that these mechanisms involve protein phosphatase 1 (PP1). Using a novel transgenic mouse model expressing human APP with the Swedish and Arctic mutations that render Abeta more prone to form oligomers (arcAbeta mice), we show that the LTP impairment induced by Abeta oligomers can be fully reversed by PP1 inhibition in vitro. We further demonstrate that the genetic inhibition of endogenous PP1 in vivo confers resistance to Abeta oligomer-mediated toxicity and preserves LTP. Overall, these results reveal that PP1 is a key player in the mechanisms of AD pathology.
PubMed ID
17634359 View in PubMed
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Abscess disease, caseous lymphadenitis, and pulmonary adenomatosis in imported sheep.

https://arctichealth.org/en/permalink/ahliterature20491
Source
J Vet Med B Infect Dis Vet Public Health. 2000 Feb;47(1):55-62
Publication Type
Article
Date
Feb-2000
Author
K. Møller
J S Agerholm
P. Ahrens
N E Jensen
T K Nielsen
Author Affiliation
Department of Microbiology, Danish Veterinary Laboratory, Copenhagen, Denmark.
Source
J Vet Med B Infect Dis Vet Public Health. 2000 Feb;47(1):55-62
Date
Feb-2000
Language
English
Publication Type
Article
Keywords
Abscess - epidemiology - microbiology - pathology - veterinary
Adenomatosis, Pulmonary - epidemiology - microbiology - pathology - veterinary
Animals
DNA Primers - chemistry
DNA, Bacterial - chemistry - isolation & purification
DNA, Ribosomal - chemistry - isolation & purification
Denmark - epidemiology
Disease Outbreaks - veterinary
Lymph Nodes - microbiology - pathology
Lymphadenitis - epidemiology - microbiology - pathology - veterinary
Polymerase Chain Reaction - veterinary
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Sheep
Sheep Diseases - epidemiology - microbiology - pathology
Staphylococcal Infections - epidemiology - microbiology - pathology - veterinary
Staphylococcus aureus - genetics - isolation & purification
Abstract
The occurrence of abscess disease, caseous lymphadenitis, and pulmonary adenomatosis in sheep in Denmark is reported for the first time. Subcutaneous abscesses were observed in imported 4- to 5-month-old lambs of the Lacaune breed 10 days after arrival in Denmark. Abscesses were mostly located in the head, neck and shoulder regions close to the regional lymph nodes. Bacteriological examinations revealed growth of Staphylococcus aureus ssp. anaerobius in all animals with subcutaneously located abscesses containing a viscous white-yellow odourless mass. In addition, Corynebacterium pseudotuberculosis was isolated from abscesses in one animal and lesions consistent with pulmonary adenomatosis were found in four animals.
PubMed ID
10780173 View in PubMed
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2543 records – page 1 of 255.