Skip header and navigation

Refine By

1167 records – page 1 of 117.

The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

https://arctichealth.org/en/permalink/ahliterature206213
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Publication Type
Article
Date
Mar-1998
Author
P. Scott
D. Ouimet
Y. Proulx
M L Trouvé
G. Guay
B. Gagnon
L. Valiquette
A. Bonnardeaux
Author Affiliation
Service de Néphrologie, Hôpital Maisonneuve-Rosemont, Montreal, Quebec, Canada.
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Date
Mar-1998
Language
English
Publication Type
Article
Keywords
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics - metabolism
Adult
Calcium - urine
Canada
European Continental Ancestry Group - genetics
Family Health
Female
France - ethnology
Genetic Linkage
Genetic Markers - genetics
Humans
Kidney Calculi - enzymology - genetics
Male
Middle Aged
Nuclear Family
Pedigree
Phenotype
Vitamin D - blood
Abstract
Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.
PubMed ID
9513904 View in PubMed
Less detail

(3)H activity comparison between FTMC, VNIIM and LNE-LNHB.

https://arctichealth.org/en/permalink/ahliterature278451
Source
Appl Radiat Isot. 2016 Mar;109:41-3
Publication Type
Article
Date
Mar-2016
Author
Philippe Cassette
Paulius Butkus
Arunas Gudelis
Tatiana Shilnikova
Source
Appl Radiat Isot. 2016 Mar;109:41-3
Date
Mar-2016
Language
English
Publication Type
Article
Keywords
France
Internationality
Laboratories - standards
Lithuania
Nuclear Medicine - standards
Radiation Dosage
Radiometry - standards
Reference Values
Reproducibility of Results
Russia
Scintillation Counting
Sensitivity and specificity
Tritium - analysis - standards
Abstract
An activity comparison of tritiated water was organized in 2013 between 3 laboratories: FTMC (Lithuania), LNE-LNHB (France) and VNIIM (Russia). The solution was prepared by LNHB and ampoules were sent to the others laboratories. This solution was standardized in terms of activity per unit mass by participant laboratories using the Triple to Double Coincidence Ratio (TDCR) method in liquid scintillation counting (LSC). The tritiated water solution is traceable to the solution prepared by LNHB for the CCRI(II)-K2.H-3 2009 (3)H international comparison.
PubMed ID
26651170 View in PubMed
Less detail

The 14q restless legs syndrome locus in the French Canadian population.

https://arctichealth.org/en/permalink/ahliterature179886
Source
Ann Neurol. 2004 Jun;55(6):887-91
Publication Type
Article
Date
Jun-2004
Author
Anastasia Levchenko
Jacques-Yves Montplaisir
Marie-Pierre Dubé
Jean-Baptiste Riviere
Judith St-Onge
Gustavo Turecki
Lan Xiong
Pascale Thibodeau
Alex Desautels
Dominique J Verlaan
Guy A Rouleau
Author Affiliation
Centre for Research in Neuroscience, McGill University Health Centre Research Institute, Montreal General Hospital, Quebec, Canada.
Source
Ann Neurol. 2004 Jun;55(6):887-91
Date
Jun-2004
Language
English
Publication Type
Article
Keywords
Canada
Chromosome Mapping
Chromosomes, Human, Pair 14 - genetics
Family Health
Female
France - ethnology
Genes, Dominant
Genes, Recessive
Genetic Linkage
Genetic Predisposition to Disease
Genotype
Humans
Lod Score
Male
Pedigree
Restless Legs Syndrome - genetics
Abstract
A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin. Our study aimed to replicate this finding and determine the importance of this locus in the French Canadian population. Markers spanning the region were genotyped in 14 large families and linkage assessed using two-point and multipoint logarithm of odds scores. Possible linkage to this locus was found in one of our kindreds providing support for the existence of this locus and indicating that this locus may be responsible for a small fraction of French Canadian restless legs syndrome.
PubMed ID
15174026 View in PubMed
Less detail

129I in the oceans: origins and applications.

https://arctichealth.org/en/permalink/ahliterature6779
Source
Sci Total Environ. 1999 Sep 30;237-238:31-41
Publication Type
Article
Date
Sep-30-1999
Author
G M Raisbeck
F. Yiou
Author Affiliation
Centre de Spectrométrie Nucléaire et de Spectrométrie de Masse, IN2P3-CNRS, Orsay, France. raisbeck@csnsm.in2p3.fr
Source
Sci Total Environ. 1999 Sep 30;237-238:31-41
Date
Sep-30-1999
Language
English
Publication Type
Article
Keywords
Environmental Monitoring - methods
France
Great Britain
Iodine - analysis
Iodine Radioisotopes - analysis
Oceans and Seas
Radioactive Tracers
Radioactive Waste - statistics & numerical data
Research Support, Non-U.S. Gov't
Technetium - analysis
Water Pollutants, Radioactive - analysis
Water Pollution, Radioactive - statistics & numerical data
Abstract
The quantity of the long lived (half-life 15.7 million years) radioactive isotope 129I in the pre-nuclear age ocean was approximately 100 kg. Various nuclear related activities, including weapons testing, nuclear fuel reprocessing, Chernobyl and other authorized or non-authorized dumping of radioactive waste have increased the ocean inventory of 129I by more than one order of magnitude. The most important of these sources are the direct marine discharges from the commercial reprocessing facilities at La Hague (France) and Sellafield (UK) which have discharged approximately 1640 kg in the English Channel, and approximately 720 kg in the Irish Sea, respectively. We discuss how this 129I can be used as both a 'pathway' and 'transit time' tracer in the North Atlantic and Arctic oceans, as well as a parameter for distinguishing between reprocessed and non-reprocessed nuclear waste in the ocean, and as a proxy for the transport and dilution of other soluble pollutants input to the North Sea.
PubMed ID
10568263 View in PubMed
Less detail

Abnormal regulation of the LDL-R and HMG CoA reductase genes in subjects with familial hypercholesterolemia with the "French Canadian mutation".

https://arctichealth.org/en/permalink/ahliterature211598
Source
Atherosclerosis. 1996 Jul;124(1):103-17
Publication Type
Article
Date
Jul-1996
Author
L. Yu
S. Qiu
J. Genest
Author Affiliation
Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Québec Canada.
Source
Atherosclerosis. 1996 Jul;124(1):103-17
Date
Jul-1996
Language
English
Publication Type
Article
Keywords
Anticholesteremic Agents - pharmacology - therapeutic use
Canada - epidemiology
Cells, Cultured
Enzyme Induction
Enzyme Inhibitors - pharmacology - therapeutic use
Ethnic Groups - genetics
Female
Fibroblasts - metabolism
France - ethnology
Gene Expression Regulation - drug effects
Haploidy
Humans
Hydroxymethylglutaryl CoA Reductases - genetics
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Hyperlipoproteinemia Type II - drug therapy - ethnology - genetics
Lipoproteins, LDL - metabolism
Lovastatin - pharmacology - therapeutic use
Male
Prevalence
RNA, Messenger - biosynthesis - genetics
Receptors, LDL - genetics - metabolism
Sequence Deletion
Transcription, Genetic
Treatment Failure
Abstract
Familial hypercholesterolemia (FH) is seen with high frequency in the province of Québec, Canada. A large deletion (> 10 kb) of the 5'-end of the low density lipoprotein receptor (LDL-R) gene is the major mutation of the LDL-R in FH subjects in Québec (approximately 60% of FH subjects). No mRNA is produced from the allele bearing the mutation, and cellular cholesterol obtained by receptor-mediated endocytosis is under the control of the non-deletion allele. We have previously reported that some patients with the 10-kb deletion (approximately 9%) fail to respond to the hydroxymethylglutaryl coenzyme A reductase (HMG CoA reductase) inhibitor class of medications. We studied mRNA levels of the LDL-R and HMG CoA reductase genes in response to the HMG CoA reductase inhibitor lovastatin in a time- and dose-dependent fashion in cultured human skin fibroblasts and we devised an in vitro model to study the response to drug therapy in subjects with FH. We determined mRNA levels by RNase protection assay in skin fibroblasts obtained from controls (n = 3) and FH subjects with the > 10-kb deletion (responders, n = 3; non responders, n = 3; to drug therapy). We measured 125I-LDL binding on skin fibroblasts grown in the presence of lipoprotein-deficient serum with or without 1 microM lovastatin, using 10 micrograms/mL of 125I-LDL protein. Control subjects exhibited coordinate regulation of the LDL-R and HMG CoA reductase genes in response to lovastatin, 0.1-25 microM, for 0-24 h. Correlation coefficients between mRNA levels of both genes were > 0.9 in controls and FH subjects. However, by linear regression analysis, the corresponding slopes for the correlation between both genes were 0.98 (controls), 3.36 and 3.63 (FH responders and non-responders), indicating a pattern of dissociated but still coordinate regulation in FH subjects. The magnitude of increase of mRNA levels of the LDL-R gene was approximately five-fold over LPDS in controls, two-fold in FH responders and two-fold in non-responders. Binding studies using 125I-LDL reveal that a control subject and all responders had a 2-2.5-fold increase in binding to cell surface receptors but two out of three FH non-responders showed no increase in binding in response to 1 microM lovastatin. The LDL-R and HMG CoA reductase genes are expressed in coordinate regulation in fibroblasts from subjects with FH due to the > 10-kb deletion, but with a proportionately greater up-regulation of the HMG CoA reductase gene. Some subjects, with FH caused by the > 10-kb deletion of the LDL-R gene, who fail to respond to HMG CoA reductase inhibitors have abnormal LDL receptor binding activity at the cell surface in response to lovastatin in vitro.
PubMed ID
8800498 View in PubMed
Less detail

Abortion, 1973: some recent world events in relation to pregnancy termination.

https://arctichealth.org/en/permalink/ahliterature66364
Source
Trans Aust Med Congr. 1974 Jun 1;1(5):27-30
Publication Type
Article
Date
Jun-1-1974
Source
Trans Aust Med Congr. 1974 Jun 1;1(5):27-30
Date
Jun-1-1974
Language
English
Publication Type
Article
Keywords
Abortion, Induced
Americas
Developed Countries
Europe
Europe, Eastern
Family Planning Services
France
Germany, East
Germany, West
Great Britain
Italy
Netherlands
North America
Norway
Scandinavia
Sweden
United States
Abstract
This selective report notes recent events relating to pregnancy termination in the U.S., France, England, Italy, East and West Germany, Norway, Sweden, and the Netherlands. Due to the Supreme Court decision in January 1973, abortion is now legal in the U.S. Although abortions is illegal in France, an estimated 400,000-1,000,000 clandestine abortions occur each year. Although abortions are legal in Britain, the ease with which they can be obtained varies regionally. As of March 1973, contraceptives are part of Britain's National Health Service. In Italy, a bill to legalize abortion has been introduced in Parliament, though there is little likelihood of its passing. In East Germany, abortion can be granted for medical or social reasons, while in West Germany, the governmental policies are more conservative, resulting in an abundance of illegal abortions performed by physicians. There is a trend toward easier abortion laws in Norway and Sweden. Little is happening in the Netherlands as far as liberalizing the abortion laws. Rather liberal grounds for pregnancy termination exist in China (though emphasis is on contraception), India, Russia, and Eastern Europe (with the exception of Romania). Abortion is frowned upon in Africa, Latin America, and the Middle East resulting in a large number of illegal abortions. It is concluded that there is liberalized abortion in communist bloc countries, there is trend toward liberalizing abortion in a large group of western countries, and tradition and religion are responsible for conservative abortion laws in a third group of countries.
PubMed ID
12333737 View in PubMed
Less detail

1167 records – page 1 of 117.