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10827 records – page 1 of 1083.

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
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5-HT2C receptor and MAO-A interaction analysis: no association with suicidal behaviour in bipolar patients.

https://arctichealth.org/en/permalink/ahliterature157011
Source
Eur Arch Psychiatry Clin Neurosci. 2008 Oct;258(7):428-33
Publication Type
Article
Date
Oct-2008
Author
Vincenzo De Luca
Subi Tharmaligam
John Strauss
James L Kennedy
Author Affiliation
Dept. of Psychiatry, University of Toronto, 250 College Street, R-30, Toronto (ON), Canada M5T 1R8. vincenzo_deluca@camh.net
Source
Eur Arch Psychiatry Clin Neurosci. 2008 Oct;258(7):428-33
Date
Oct-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Bipolar Disorder - genetics - psychology
Canada
Family Health
Female
Gene Frequency
Genes, X-Linked
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Male
Middle Aged
Monoamine Oxidase - genetics
Nuclear Family
Polymorphism, Single Nucleotide
Receptor, Serotonin, 5-HT2C - genetics
Suicide, Attempted - psychology
Young Adult
Abstract
The serotonin 2C (HTR2C) receptor has been implicated in suicide-related behaviours, however there are not many studies to date about HTR2C and suicidality. We studied HTR2C haplotypes in suicide attempters, where our sample composed of 306 families with at least one member affected by bipolar disorder. HTR2C (Cys23Ser and a common STR in the promoter) variants were analyzed with respect to attempter status and the severity of suicidal behaviour. The X-linked haplotype analysis in relation to suicide attempt did not reveal any significant association. Furthermore, we performed a particular gene-gene interaction for the X-linked serotonergic genes (HTR2C and MAOA), and found no association among this intergenic haplotype combination and suicidal behaviour in bipolar disorder.
PubMed ID
18504633 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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[10,850 general practice consultations with elderly patients. From diagnosis-prescription-examination in Møre and Romsdal]

https://arctichealth.org/en/permalink/ahliterature72639
Source
Tidsskr Nor Laegeforen. 1997 Nov 10;117(27):3980-4
Publication Type
Article
Date
Nov-10-1997
Author
J. Straand
H. Sandvik
K. Rokstad
Author Affiliation
Seksjon for allmennmedisin, Universitetet i Bergen.
Source
Tidsskr Nor Laegeforen. 1997 Nov 10;117(27):3980-4
Date
Nov-10-1997
Language
Norwegian
Publication Type
Article
Keywords
Aged
Cardiovascular Diseases - diagnosis - drug therapy - epidemiology
English Abstract
Family Practice - statistics & numerical data
Female
Health Services for the Aged - statistics & numerical data
Humans
Male
Mental Disorders - diagnosis - drug therapy - epidemiology
Musculoskeletal Diseases - diagnosis - drug therapy - epidemiology
Norway - epidemiology
Prescriptions, Drug - statistics & numerical data
Referral and Consultation - statistics & numerical data
Respiratory Tract Diseases - diagnosis - drug therapy - epidemiology
Abstract
Over a period of two months in 1988 and 1989 general practitioners in the Norwegian county of Møre and Romsdal recorded all contacts with their patients. Participation was close to 100%. We report data from 10,850 surgery consultations with elderly patients (65 years and older). 60% of the consultations involved female patients, and 58% of the patients were 65-74 years old. New diagnoses were made in one-third of the cases; two-thirds were follow-ups. The most common groups of diagnoses were cardiovascular (28%), musculoskeletal (13%), psychiatric (8%) and respiratory diseases (8%). Almost 10% of all consultations were for hypertension. Drugs were prescribed in 45% of all cases. 27% of all prescriptions were for cardiovascular drugs, and 25% were for drugs for the nervous system. The 20 most common diagnoses made up more than half of the total number of diagnoses. Almost 70% of all prescriptions were for the ten most common therapeutic groups.
PubMed ID
9441427 View in PubMed
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10-year outcome of childhood epilepsy in well-functioning children and adolescents.

https://arctichealth.org/en/permalink/ahliterature136518
Source
Eur J Paediatr Neurol. 2011 Jul;15(4):331-7
Publication Type
Article
Date
Jul-2011
Author
Pysse Jonsson
Orvar Eeg-Olofsson
Author Affiliation
Department of Women's and Children's Health/Neuropaediatrics, Uppsala University, Uppsala, Sweden.
Source
Eur J Paediatr Neurol. 2011 Jul;15(4):331-7
Date
Jul-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Cohort Studies
Epilepsy - classification - drug therapy - epidemiology
Family Health
Female
Humans
Infant
Longitudinal Studies
Male
Prevalence
Questionnaires
Sweden - epidemiology
Treatment Outcome
Young Adult
Abstract
A population based study of epilepsy in children from a Swedish county including all children aged 1 month to 16 years was reported in 2006.
To describe the medical outcome, seizure types, epilepsy syndromes, treatment, individual and family history in children from this study who were well-functioning in January 1997 and the outcome after 10 years.
Forty-five individuals, 11-21 years, 19 females, and their parents responded to a questionnaire and the hospital records were reviewed.
At the end of the 10-year period 75.6% of the patients were in remission. Focal seizures and focal seizures with secondary generalization were found in 57.8%. Rolandic epilepsy had been diagnosed in 33.3%, other idiopathic focal epilepsies in 11.0%, cryptogenic and symptomatic focal epilepsies in 22.2%, childhood absence epilepsy in 8.9%, juvenile absence epilepsy and Jeavons syndrome in each 2.2%, West syndrome in 4.4%, and other "generalized" epilepsies in 15.5%. The patients had a history of simple febrile seizures in 15.6% and of primary headache in 24.4%. Monotherapy with antiepileptic drugs was used by 64.4%, and valproate was the most common first drug of choice. A family history of epilepsy was found in 44.4%, febrile seizures in 17.7%, and primary headache in 57.8%. A coincidence of focal and generalized epilepsy phenotypes was found in some families.
Longitudinal studies are of importance in epilepsy epidemiology. Our results reflect the selection of only well-functioning individuals with epilepsy from the population based original study.
PubMed ID
21371918 View in PubMed
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[13-year period of application of the 13C-urease breath test for determining Helicobacter pylori in Russian clinical practice].

https://arctichealth.org/en/permalink/ahliterature262452
Source
Klin Med (Mosk). 2014;92(11):59-64
Publication Type
Article
Date
2014
Author
S I Rapoport
N A Shubina
Source
Klin Med (Mosk). 2014;92(11):59-64
Date
2014
Language
Russian
Publication Type
Article
Keywords
Adult
Breath Tests - instrumentation - methods
Carbon Isotopes - diagnostic use
Child
Comparative Effectiveness Research
Family Health
Female
Gastrointestinal Diseases - diagnosis - etiology - physiopathology - therapy
Helicobacter Infections - complications - diagnosis - microbiology
Helicobacter pylori - physiology
Humans
Male
Medication Therapy Management
Predictive value of tests
Russia
Spectrum Analysis - methods
Abstract
13C-urease breath tests have been extensively used in world-wide gastroenterological practice since the 1990s. We have been using them since 2000, but their clinical application in Russia is far from being universal. Moreover, their results are significantly different from those obtained by other methods for determining H. pylori. The authors report original data on the peculiarities of occurrence of this pathogen in its carriers.
PubMed ID
25796949 View in PubMed
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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
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10827 records – page 1 of 1083.