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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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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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Abstracts of the Inaugural Birt-Hogg-Dubé (BHD) Symposium. Roskilde, Denmark. September 3, 2008.

https://arctichealth.org/en/permalink/ahliterature92493
Source
Fam Cancer. 2008;7 Suppl 1:S3-11
Publication Type
Conference/Meeting Material
Article
Date
2008
Source
Fam Cancer. 2008;7 Suppl 1:S3-11
Date
2008
Language
English
Publication Type
Conference/Meeting Material
Article
Keywords
Animals
Family Health
Humans
Neoplasms - genetics
PubMed ID
18704757 View in PubMed
Less detail

Accidents in childhood: relation to psychosocial conditions and mental development.

https://arctichealth.org/en/permalink/ahliterature11270
Source
Acta Paediatr. 1996 Mar;85(3):285-91
Publication Type
Article
Date
Mar-1996
Author
J O Larsson
G. Aurelius
Author Affiliation
Karolinska Institutet, Department of Woman and Child Health, St Göran Children's Hospital, Stockholm, Sweden.
Source
Acta Paediatr. 1996 Mar;85(3):285-91
Date
Mar-1996
Language
English
Publication Type
Article
Keywords
Accidents - psychology - statistics & numerical data
Alcoholism
Child
Child Abuse
Child Behavior
Family Health
Female
Humans
Longitudinal Studies
Male
Prospective Studies
Research Support, Non-U.S. Gov't
Stress, Psychological
Sweden
Abstract
In a longitudinal cohort study we investigated if children experiencing psychosocial stress and exhibiting certain psychopathological symptoms run a higher risk of having accidents than other children. In 366 children the number of hospital-treated casualties during the first 10 years of their lives was related to the physical and mental characteristics of the children and to the social conditions in their families. Boys had a higher number of accidents when one or both of the parents were known to have alcohol problems. Girls exhibiting symptoms of depression, anxiety and problems in social relationships at 4-5 years of age had more accidents than girls without such symptoms. However, the differences in accident rates were small, perhaps due to the physical environment in the housing areas and the general attitude, both aiming towards reducing childhood accidents.
PubMed ID
8695982 View in PubMed
Less detail

Accuracy of family cancer history in breast cancer patients.

https://arctichealth.org/en/permalink/ahliterature217868
Source
Eur J Cancer Prev. 1994 Jul;3(4):321-7
Publication Type
Article
Date
Jul-1994
Author
B. Theis
N. Boyd
G. Lockwood
D. Tritchler
Author Affiliation
Division of Epidemiology and Biostatistics, Ontario Cancer Institute, Toronto, Canada.
Source
Eur J Cancer Prev. 1994 Jul;3(4):321-7
Date
Jul-1994
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aged
Breast Neoplasms - genetics
Canada
Colonic Neoplasms - genetics
Death Certificates
Family Health
Female
Humans
Interviews as Topic
Male
Medical History Taking
Medical Records
Middle Aged
Ovarian Neoplasms - genetics
Prostatic Neoplasms - genetics
Questionnaires
Rectal Neoplasms - genetics
Registries
Reproducibility of Results
Abstract
We assessed the validity of information reported by patients with breast cancer on cancer in first- and second-degree relatives. In Toronto, Canada, 165 patients completed mailed questionnaires about cancer in relatives and were then interviewed in person. Their reports were compared with relatives' hospital records, cancer registry or death records for presence of cancer, site and age at diagnosis. Questionnaire and interview reports agreed with records for 82-96% of reports on first-degree and 48-80% on second-degree relatives. Proband reports of cancer sites in first-degree relatives were generally accurate (breast 99%, ovary 100%, prostate 85%, colon 93%). Reports of cancer sites in second-degree relatives were accurate for prostate cancer but only for 85% of breast and 72% of colon cancers. Age at diagnosis of breast cancer was correct in 92% of cases in first-degree and 54% in second-degree relatives. The interview contributed additional information about the presence of cancer in second-degree relatives, and the site and age at diagnosis in first- and second-degree relatives. In a similar population the questionnaire alone should yield adequate data for identifying families that warrant further investigation.
PubMed ID
7950886 View in PubMed
Less detail

Achieving the daily step goal of 10,000 steps: the experience of a Canadian family attached to pedometers.

https://arctichealth.org/en/permalink/ahliterature161755
Source
Clin Invest Med. 2007;30(3):E108-13
Publication Type
Article
Date
2007
Author
Bernard C K Choi
Anita W P Pak
Jerome C L Choi
Elaine C L Choi
Author Affiliation
Department of Public Health Sciences, University of Toronto, Ontario, Canada. Bernard.Choi@utoronto.ca
Source
Clin Invest Med. 2007;30(3):E108-13
Date
2007
Language
English
Publication Type
Article
Keywords
Activities of Daily Living
Adolescent
Adult
Canada
Family Health
Feasibility Studies
Female
Health Behavior
Health Promotion - methods
Humans
Life Style
Male
Monitoring, Ambulatory - instrumentation - methods
Pilot Projects
Reproducibility of Results
Walking
Abstract
Health experts recommend daily step goals of 10,000 steps for adults and 12,000 steps for youths to achieve a healthy active living. This article reports the findings of a Canadian family project to investigate whether the recommended daily step goals are achievable in a real life setting, and suggests ways to increase the daily steps to meet the goal. The family project also provides an example to encourage more Canadians to conduct family projects on healthy living.
This is a pilot feasibility study. A Canadian family was recruited for the study, with 4 volunteers (father, mother, son and daughter). Each volunteer was asked to wear a pedometer and to record daily steps for three time periods of each day during a 2-month period. Both minimal routine steps, and additional steps from special non-routine activities, were recorded at work, school and home.
The mean number of daily steps from routine minimal daily activities for the family was 6685 steps in a day (16 hr, approx 400 steps/hr). There was thus a mean deficit of 4315 steps per day, or approximately 30,000 steps per week, from the goal (10,000 steps for adults; 12,000 steps for youths). Special activities that were found to effectively increase the steps above the routine level include: walking at brisk pace, grocery shopping, window shopping in a mall, going to an entertainment centre, and attending parties (such as to celebrate the holiday season and birthdays).
To increase our daily steps to meet the daily step goal, a new culture is recommended: "get off the chair". By definition, sitting on a chair precludes the opportunity to walk. We encourage people to get off the chair, to go shopping, and to go partying, as a practical and fun way to increase the daily steps. This paper is a call for increased physical activity to meet the daily step goal.
PubMed ID
17716548 View in PubMed
Less detail

1020 records – page 1 of 102.