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3048 records – page 1 of 305.

2,8-dihydroxyadeninuria: are there no cases in Scandinavia?

https://arctichealth.org/en/permalink/ahliterature175743
Source
Scand J Urol Nephrol. 2005;39(1):82-6
Publication Type
Article
Date
2005
Author
Margret Arnadottir
Thröstur Laxdal
Bergljot Halldorsdottir
Author Affiliation
Department of Internal Medicine, Landspitali University Hospital Hringbraut, Reykjavik, Iceland. margarn@landspitali.is
Source
Scand J Urol Nephrol. 2005;39(1):82-6
Date
2005
Language
English
Publication Type
Article
Keywords
Adenine - analogs & derivatives - metabolism - urine
Adenine Phosphoribosyltransferase - deficiency - genetics
Heterozygote
Homozygote
Humans
Mutation
Renal Insufficiency - etiology
Scandinavia - epidemiology
Urinary Calculi - etiology - urine
Abstract
Homozygosity or mixed heterozygosity for mutations in the adenine phosphoribosyltransferase gene cause enzyme deficiency directing adenine through an alternative metabolic pathway. This results in the production of 2,8-dihydroxyadenine, which is actively secreted into the urine. 2,8-dihydroxyadenine is insoluble at physiological urinary pH but as marked supersaturation is possible the manifestations differ: there may be minimal consequences, there may be infiltration of the tubulointerstitial tissue with acute or chronic damage or there may be stone formation in the urinary tract. Effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis. Treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. Urinary 2,8-dihydroxyadenine crystals are easily recognized under a microscope. The diagnosis of 2,8-dihydroxyadeninuria can be confirmed by estimation of adenine phosphoribosyltransferase activity in erythrocyte lysates. More than 300 cases of 2,8-dihydroxyadeninuria have been diagnosed worldwide, most of them in Japan, France and Iceland. One case has been reported in Finland but there have been no reports from the Scandinavian peninsula or from Denmark. The relevant mutations may be very rare in these countries but underdiagnosis is also possible.
PubMed ID
15764278 View in PubMed
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2B or not to be--the 45-year saga of the Montreal Platelet Syndrome.

https://arctichealth.org/en/permalink/ahliterature140851
Source
Thromb Haemost. 2010 Nov;104(5):903-10
Publication Type
Article
Date
Nov-2010
Author
Man-Chiu Poon
Margaret L Rand
Shannon C Jackson
Author Affiliation
Division of Hematology and Hematologic Malignancies, Department of Medicine, University of Calgary, Calgary, Alberta, Canada. mcpoon@ucalgary.ca
Source
Thromb Haemost. 2010 Nov;104(5):903-10
Date
Nov-2010
Language
English
Publication Type
Article
Keywords
Blood Coagulation - genetics
Blood Coagulation Tests - history
Blood Platelet Disorders - blood - genetics - history
Blood Platelets - metabolism - pathology
Canada
Genetic Predisposition to Disease
History, 20th Century
Humans
Mutation
Pedigree
Phenotype
Platelet Function Tests - history
Syndrome
von Willebrand Disease, Type 2 - blood - genetics - history
von Willebrand Factor - genetics - history
Abstract
Over 45 years ago, Montreal Platelet Syndrome was first described as a rare inherited platelet disorder characterised by macrothrombocytopenia with spontaneous platelet clumping, abnormal platelet shape change upon stimulation and a defect in platelet calpain. This syndrome has now been reclassified as type 2B von Willebrand disease with the V1316M VWF mutation in the only kindred ever reported. We herein revisit the historical platelet characteristics originally described in Montreal Platelet Syndrome in light of the new diagnosis. This paper will review the 45-year saga of Montreal Platelet Syndrome, a story that highlights the value of revisiting a rare diagnosis to look for a more common explanation.
PubMed ID
20838735 View in PubMed
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A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA.

https://arctichealth.org/en/permalink/ahliterature82145
Source
Neurology. 2006 May 23;66(10):1470-5
Publication Type
Article
Date
May-23-2006
Author
Majamaa-Voltti K A M
Winqvist S.
Remes A M
Tolonen U.
Pyhtinen J.
Uimonen S.
Kärppä M.
Sorri M.
Peuhkurinen K.
Majamaa K.
Author Affiliation
Department of Internal Medicine, University of Oulu, Oulu, Finland. kirsi.majamaa-voltti@oulu.fi
Source
Neurology. 2006 May 23;66(10):1470-5
Date
May-23-2006
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Blood Glucose - analysis
Cognition Disorders - genetics
DNA, Mitochondrial - genetics
Diabetes Mellitus - blood - genetics
Disease Progression
Electrocardiography, Ambulatory
Electroencephalography
Female
Finland - epidemiology
Follow-Up Studies
Hearing Loss, Sensorineural - genetics
Humans
Hypertrophy, Left Ventricular - genetics - ultrasonography
Lactates - blood
MELAS Syndrome - genetics - mortality
Male
Middle Aged
Mitochondria, Muscle - metabolism
Mosaicism
Neuropsychological Tests
Point Mutation
Pyruvates - blood
Abstract
OBJECTIVE: To follow the clinical course of patients with the mitochondrial DNA mutation 3243A>G for 3 years. METHODS: Thirty-three adult patients with the 3243A>G mutation entered a 3-year follow-up study. They were clinically evaluated annually, audiometry was performed, and samples were drawn for the analysis of blood chemistry and mutation heteroplasmy in leukocytes. Holter recording was performed three times during the follow-up and echocardiography, neuropsychological assessment, and quantitative EEG and brain imaging conducted at entry and after 3 years. RESULTS: The incidence of new neurologic events was low during the 3-year follow-up. Sensorineural hearing impairment (SNHI) progressed, left ventricular wall thickness increased, mean alpha frequency in the occipital and parietal regions decreased, and the severity of disease index (modified Rankin score) progressed significantly. The rate of SNHI progression correlated with mutation heteroplasmy in muscle. The increase in left ventricular wall thickness was seen almost exclusively in diabetic patients. Seven patients died during the follow-up, and they were generally more severely affected than those who survived. CONCLUSIONS: Significant changes in the severity of disease, sensorineural hearing impairment, left ventricular hypertrophy, and quantitative EEG were seen in adult patients with 3243A>G during the 3-year follow-up.
Notes
Comment In: Neurology. 2007 Jan 9;68(2):163-417210904
PubMed ID
16717204 View in PubMed
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The 5alpha-reductase type II A49T and V89L high-activity allelic variants are more common in men with prostate cancer compared with the general population.

https://arctichealth.org/en/permalink/ahliterature173682
Source
Eur Urol. 2005 Oct;48(4):679-85
Publication Type
Article
Date
Oct-2005
Author
Yvonne L Giwercman
Per-Anders Abrahamsson
Aleksander Giwercman
Virgil Gadaleanu
Göran Ahlgren
Author Affiliation
Department of Urology, Malmö University Hospital, Lund University, Wallenberg Laboratory, entrance 46, SE - 205 02 Malmö, Sweden. yvonne.giwercman@kir.mas.lu.se
Source
Eur Urol. 2005 Oct;48(4):679-85
Date
Oct-2005
Language
English
Publication Type
Article
Keywords
3-Oxo-5-alpha-Steroid 4-Dehydrogenase - blood - genetics
Aged
Alanine
Alleles
Arginine
Case-Control Studies
Dihydrotestosterone - blood
Disease Progression
Follow-Up Studies
Genetic Predisposition to Disease
Genotype
Glutamine
Humans
Leucine
Luteinizing Hormone - blood
Male
Middle Aged
Point Mutation
Polymorphism, Genetic
Prostatic Hyperplasia - blood - epidemiology - genetics
Prostatic Neoplasms - blood - epidemiology - genetics
Receptors, Androgen - blood - genetics
Risk factors
Sex Hormone-Binding Globulin - metabolism
Sweden - epidemiology
Terminal Repeat Sequences
Testosterone - blood
Threonine
Tumor Markers, Biological - blood
Valine
Abstract
To compare men with prostate disease with those from the general population regarding polymorphisms in the androgen receptor gene and in the 5alpha-reductase II (SRD5A2) gene.
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients compared to general population, p=0.026 and p=0.05, respectively. CaP progression was, however, independent of SRD5A2 variants. In contrary, men with GGN
PubMed ID
16039774 View in PubMed
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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature156293
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Publication Type
Article
Date
Aug-2008
Author
Wendy J Broom
Matthew Greenway
Ghazaleh Sadri-Vakili
Carsten Russ
Kristen E Auwarter
Kelly E Glajch
Nicolas Dupre
Robert J Swingler
Shaun Purcell
Caroline Hayward
Peter C Sapp
Diane McKenna-Yasek
Paul N Valdmanis
Jean-Pierre Bouchard
Vincent Meininger
Betsy A Hosler
Jonathan D Glass
Meraida Polack
Guy A Rouleau
Jang-Ho J Cha
Orla Hardiman
Robert H Brown
Author Affiliation
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. wendy.broom@gmail.com
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Age of Onset
Amyotrophic Lateral Sclerosis - enzymology - epidemiology - genetics
Base Sequence
DNA Mutational Analysis
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Homozygote
Humans
Ireland - epidemiology
Male
Middle Aged
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic
Quebec - epidemiology
Risk factors
Scotland - epidemiology
Sequence Deletion
Sp1 Transcription Factor - metabolism
Superoxide Dismutase - genetics - metabolism
United States - epidemiology
Abstract
The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200 SALS cases from Ireland, Scotland, Quebec and the USA was genotyped for the 50bp SOD1 promoter deletion. Reporter gene expression analysis, electrophoretic mobility shift assays and chromatin immunoprecipitation studies were utilized to examine the functional effects of the deletion. The genetic association for homozygosity for the promoter deletion with an increased age of symptom onset was confirmed overall in this further study (p=0.032), although it was only statistically significant in the Irish subset, and remained highly significant in the combined set of all cohorts (p=0.001). Functional studies demonstrated that this polymorphism reduces the activity of the SOD1 promoter by approximately 50%. In addition we revealed that the transcription factor SP1 binds within the 50bp deletion region in vitro and in vivo. Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations.
PubMed ID
18608091 View in PubMed
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657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.

https://arctichealth.org/en/permalink/ahliterature184730
Source
Am J Med Genet A. 2003 Jul 15;120A(2):174-9
Publication Type
Article
Date
Jul-15-2003
Author
Igor B Resnick
Irina Kondratenko
Eugeni Pashanov
Alexey A Maschan
Alexander Karachunsky
Oleg Togoev
Andrey Timakov
Alexander Polyakov
Svetlana Tverskaya
Oleg Evgrafov
Alexander G Roumiantsev
Author Affiliation
Department of Immunology, Research Institute for Paediatric Hematology, Moscow, Russia. gashka@hadassah.org.il
Source
Am J Med Genet A. 2003 Jul 15;120A(2):174-9
Date
Jul-15-2003
Language
English
Publication Type
Article
Keywords
Base Sequence
Child
Child, Preschool
Chromosome Breakage - genetics
Chromosomes, Human, Pair 8
Cohort Studies
Genetic Predisposition to Disease
Genetic Testing
Heterozygote
Humans
Loss of Heterozygosity
Lymphoma, Non-Hodgkin - genetics - pathology
Lymphoproliferative Disorders - genetics - pathology
Male
Mutation
Pedigree
Pilot Projects
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics - pathology
Russia
Sequence Deletion
Syndrome
Abstract
Nijmegen breakage syndrome (NBS, OMIM 251260) is a rare hereditary disease, characterized by immune deficiency, microcephaly, and an extremely high incidence of lymphoid tissue malignancies. The gene mutated in NBS, NBS1, was recently cloned from its location on chromosome 8q21. The encoded protein, nibrin (p95), together with hMre11 and hRad50, is involved in the double-strand DNA break repair system. We screened two Russian cohorts for the 657del5 NBS1 mutation and found no carriers in 548 controls and two carriers in 68 patients with lymphoid malignancies: one with acute lymphoblastic leukemia (ALL) and one with non-Hodgkin lymphoma (NHL). Several relatives of the second patient, who were carriers of the same mutation, had cancer (ALL, breast cancer, GI cancers). These preliminary data suggest that NBS1 mutation carriers can be predisposed to malignant disorders.
PubMed ID
12833396 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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The 20210 A allele of the prothrombin gene is not a risk factor for juvenile stroke in the Danish population.

https://arctichealth.org/en/permalink/ahliterature33554
Source
Blood Coagul Fibrinolysis. 1998 Oct;9(7):663-4
Publication Type
Article
Date
Oct-1998
Author
M. Gaustadnes
N. Rüdiger
J. Ingerslev
Source
Blood Coagul Fibrinolysis. 1998 Oct;9(7):663-4
Date
Oct-1998
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
Cerebrovascular Disorders - genetics
Child
Child, Preschool
Denmark
Humans
Infant
Middle Aged
Mutation
Prothrombin - genetics
Risk factors
Notes
Comment On: Blood Coagul Fibrinolysis. 1998 Mar;9(2):209-109622222
PubMed ID
9863718 View in PubMed
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The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.

https://arctichealth.org/en/permalink/ahliterature31346
Source
Clin Genet. 2002 Oct;62(4):303-5
Publication Type
Article
Date
Oct-2002
Author
E. ØStergaard
B. Montserrat-Sentis
K. Grønskov
K. Brøndum-Nielsen
Author Affiliation
Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark. els@kennedy.dk
Source
Clin Genet. 2002 Oct;62(4):303-5
Date
Oct-2002
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Child
Child, Preschool
DNA, Mitochondrial - genetics
Denmark - epidemiology
Female
Genetic Predisposition to Disease - epidemiology
Genetic Screening
Hearing Loss, Sensorineural - epidemiology - genetics
Humans
Male
Point Mutation
Abstract
The A1555G mutation of the mtDNA is associated with both aminoglycoside-induced and non-syndromic hearing loss. The A1555G is relatively frequent in the Spanish and some Asian populations, but has only been reported rarely in other populations, possibly because of ascertainment bias. We studied 85 Danish patients with varying degrees of hearing impairment and found two patients with the A1555G mutation (2.4%). Neither had received aminoglycosides. Our study indicates that the mutation might not be uncommon in Danish patients with hearing impairment.
PubMed ID
12372057 View in PubMed
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3048 records – page 1 of 305.