Skip header and navigation

Refine By

267 records – page 1 of 27.

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

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
Less detail

Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set.

https://arctichealth.org/en/permalink/ahliterature204108
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Publication Type
Article
Date
Nov-1998
Author
L L Field
B J Kaplan
Author Affiliation
Department of Medical Genetics, Faculty of Medicine, Alberta Children's Hospital, University of Calgary, Calgry, Alberta, Canada. field@ucalgary.ca
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Date
Nov-1998
Language
English
Publication Type
Article
Keywords
African Continental Ancestry Group - genetics
Alberta
Alleles
Auditory Perception
Child
Chromosome Mapping
Chromosomes, Human, Pair 6
Dyslexia - genetics - physiopathology
Europe - ethnology
European Continental Ancestry Group - genetics
Gene Frequency
Genetic Linkage
Genetic markers
Genotype
Humans
Lod Score
Nuclear Family
Abstract
Previous studies have suggested that a locus predisposing to specific reading disability (dyslexia) resides on chromosome 6p23-p21.3. We investigated 79 families having at least two siblings affected with phonological coding dyslexia, the most common form of reading disability (617 people genotyped, 294 affected), and we tested for linkage with the genetic markers reported to be linked to dyslexia in those studies. No evidence for linkage was found by LOD score analysis or affected-sib-pair methods. However, using the affected-pedigree-member (APM) method, we detected significant evidence for linkage and/or association with some markers when we used published allele frequencies with weighting of rarer alleles. APM results were not significant when we used marker allele frequencies estimated from parents. Furthermore, results were not significant with the more robust SIMIBD method using either published or parental marker frequencies. Finally, family-based association analysis using the AFBAC program showed no evidence for association with any marker. We conclude that the APM method should be used only with extreme caution, because it appears to have generated false-positive results. In summary, using a large data set with high power to detect linkage, we were unable to find evidence for linkage or association between phonological coding dyslexia and chromosome 6p markers.
Notes
Cites: Am J Hum Genet. 1997 Jan;60(1):27-398981944
Cites: Am J Hum Genet. 1996 Apr;58(4):892-58644756
Cites: Acta Psychiatr Neurol Suppl. 1950;65:1-28714846691
Cites: Dev Med Child Neurol. 1973 Apr;15(2):184-74697752
Cites: Ann Hum Genet. 1976 Jul;40(1):1-23962317
Cites: Behav Genet. 1980 Jan;10(1):9-307425998
Cites: Science. 1983 Mar 18;219(4590):1345-76828864
Cites: Am J Hum Genet. 1985 May;37(3):482-983859205
Cites: Clin Genet. 1987 Aug;32(2):118-93652490
Cites: Nature. 1987 Oct 8-14;329(6139):537-93657975
Cites: Am J Hum Genet. 1988 Feb;42(2):315-263422543
Cites: Nucleic Acids Res. 1988 Feb 11;16(3):12153344216
Cites: Am J Hum Genet. 1989 Mar;44(3):388-962916582
Cites: Am J Hum Genet. 1989 Apr;44(4):543-512929597
Cites: J Am Acad Child Adolesc Psychiatry. 1989 May;28(3):326-312661524
Cites: J Learn Disabil. 1989 Jun-Jul;22(6):339-482738467
Cites: J Am Acad Child Adolesc Psychiatry. 1990 Mar;29(2):204-131969860
Cites: Arch Neurol. 1990 Aug;47(8):919-262375699
Cites: Nucleic Acids Res. 1990 Jul 25;18(14):43012377495
Cites: Arch Neurol. 1991 Apr;48(4):410-62012516
Cites: Nucleic Acids Res. 1991 Feb 25;19(4):9682017389
Cites: J Immunol. 1991 Aug 1;147(3):1053-91861069
Cites: Nucleic Acids Res. 1991 Aug 11;19(15):43061870992
Cites: Neuropsychologia. 1992 Mar;30(3):209-271574158
Cites: Cortex. 1992 Sep;28(3):483-911395648
Cites: Arch Neurol. 1993 May;50(5):461-98489401
Cites: Am J Hum Genet. 1993 Jul;53(1):252-638317490
Cites: Diabetes. 1993 Aug;42(8):1215-88392011
Cites: Am J Hum Genet. 1993 Oct;53(4):908-158213819
Cites: Hum Hered. 1993 Nov-Dec;43(6):329-368288263
Cites: Genet Epidemiol. 1993;10(6):389-948314032
Cites: Genet Epidemiol. 1993;10(6):395-4008314033
Cites: Science. 1994 Oct 14;266(5183):276-97939663
Cites: Am J Hum Genet. 1995 Aug;57(2):487-987668275
Cites: Nature. 1996 Mar 14;380(6570):152-48600387
Cites: Genomics. 1996 Apr 1;33(1):1-88617492
Cites: Am J Hum Genet. 1996 Apr;58(4):867-808644751
Erratum In: Am J Hum Genet 1999 Jan;64(1):334
PubMed ID
9792873 View in PubMed
Less detail

Abusive relationships in families of women with borderline personality disorder, anorexia nervosa and a control group.

https://arctichealth.org/en/permalink/ahliterature193394
Source
J Nerv Ment Dis. 2001 Aug;189(8):522-31
Publication Type
Article
Date
Aug-2001
Author
L. Laporte
H. Guttman
Author Affiliation
Allan Memorial Institute, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
Source
J Nerv Ment Dis. 2001 Aug;189(8):522-31
Date
Aug-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Anorexia Nervosa - diagnosis - epidemiology - psychology
Borderline Personality Disorder - diagnosis - epidemiology - psychology
Canada - epidemiology
Child
Child Abuse - psychology - statistics & numerical data
Child Abuse, Sexual - psychology - statistics & numerical data
Domestic Violence - psychology - statistics & numerical data
Family Relations
Female
Humans
Incidence
Male
Nuclear Family - psychology
Psychiatric Status Rating Scales - statistics & numerical data
Risk factors
Severity of Illness Index
Sex Factors
Abstract
In a group of intact families, we examined the rates and parameters of verbal, physical, and sexual abuse in 35 women with borderline personality disorder (BPD), 34 women with anorexia nervosa (AN), and 33 women without a clinical history (NC); their experience of multiple abuse and its correlation with their SCL-90-R scores; and their reports of abuse of their siblings. Corroboration of abuse was obtained from some parents in each group. Women with BPD suffered more intrafamilial verbal and physical abuse. Whereas AN and NC women experienced relatively rare single events of extrafamilial sexual abuse at an older age, those with BPD suffered repeated intrafamilial sexual abuse at a younger age and also suffered more multiple abuse. All multiply abused women had more psychopathology. Siblings were reported abused in the same proportions as subjects; many parents of BPDs corroborated their daughters' reports of all three forms of abuse.
PubMed ID
11531204 View in PubMed
Less detail

Adaptation and resiliency in Swedish families.

https://arctichealth.org/en/permalink/ahliterature84584
Source
Scand J Caring Sci. 2007 Sep;21(3):329-37
Publication Type
Article
Date
Sep-2007
Author
Kiehl Ermalynn M
Carson David K
Dykes Anna-Karin
Author Affiliation
School of Nursing, University of Louisville, Louisville, KY 40202, USA. e.kiehl@louisville.edu
Source
Scand J Caring Sci. 2007 Sep;21(3):329-37
Date
Sep-2007
Language
English
Publication Type
Article
Keywords
Adaptation, Psychological
Adult
Family Health
Family Relations
Female
Follow-Up Studies
Health status
Humans
Middle Aged
Mothers - psychology
Nuclear Family - psychology
Personal Satisfaction
Social Support
Sweden
Abstract
A longitudinal research project began in 1993 of Norwegian, Swedish and American mothers' perception of her family's dynamics and adaptation during childbearing and childrearing. Results indicated that Swedish mothers adapted better than other mothers. In 2003, a mixed design study was conducted with original Swedish mothers that aimed to describe the experience of motherhood, the meaning mothers attached to events in their lives that made adaptation necessary, and ways in which they achieved adaptation. Fourteen mothers completed quantitative instruments and 13 of those mothers were interviewed. Audiotaped interviews were transcribed and analysed for themes using a protocol based on a model of family resiliency. Quantitative findings revealed statistically significant findings in areas of children, mother's work outside the home and families in which a major illness had occurred. Qualitative findings revealed that protective factors far outweighed vulnerability and risk factors. Mothers' satisfaction with life manifested itself in love of home, contentment with employment, fulfillment from an active and healthy life and support from a society that provides a wide range of social benefits for the family. Vulnerability occurred primarily when mothers were tired, lacked personal time or someone in the family was experiencing a serious illness. Results of this study enhance the scholarly scientific knowledge about the uniqueness of Swedish mothers, and increased understanding of family dynamics and adaptation. Many of the findings relate in some way to overall social benefits and supports available for families.
PubMed ID
17727545 View in PubMed
Less detail

Age of onset in siblings concordant for multiple sclerosis.

https://arctichealth.org/en/permalink/ahliterature226576
Source
Brain. 1991 Apr;114 ( Pt 2):937-50
Publication Type
Article
Date
Apr-1991
Author
D E Bulman
A D Sadovnick
G C Ebers
Author Affiliation
Multiple Sclerosis Clinic, University of Western Ontario, London, Canada.
Source
Brain. 1991 Apr;114 ( Pt 2):937-50
Date
Apr-1991
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
British Columbia
Diseases in Twins
Female
Humans
Male
Middle Aged
Multiple Sclerosis - genetics - physiopathology
Nuclear Family
Ontario
Regression Analysis
Time Factors
Twins, Monozygotic
Abstract
We have evaluated genetic and environmental influences in multiple sclerosis (MS) by comparing age of onset in 99 sibling pairs concordant for the disease. We used three methods of analysis: (1) comparison of mean differences in age of onset and year of onset, (2) linear regression of differences in age or year of onset vs difference in ages, and (3) intraclass correlation of age of onset which is also used for monozygotic twins concordant for MS. Comparison of the mean differences in age of onset or year of onset is found to be inappropriate and potentially misleading. No significant results were found in linear regression of the age of onset or year of onset vs differences in ages, although a trend towards onset at the same age is present. However, nontwin siblings show a significant intraclass correlation for age of onset (P less than 0.01) as is seen in genetic disorders. A stronger intraclass correlation in age of onset in concordant monozygotic twins vs concordant sibling pairs further suggests that age of onset is partly under genetic control, assuming common exposure to an environmental agent. The results give little support for common exposure to an environmental trigger in concordant MS sibling pairs. They are consistent with a mixture of random independent exposures and common exposures leading to the development of the disease, with the former predominating.
PubMed ID
2043958 View in PubMed
Less detail

Age, sex, race, initial fitness, and response to training: the HERITAGE Family Study.

https://arctichealth.org/en/permalink/ahliterature195060
Source
J Appl Physiol (1985). 2001 May;90(5):1770-6
Publication Type
Article
Date
May-2001
Author
J S Skinner
A. Jaskólski
A. Jaskólska
J. Krasnoff
J. Gagnon
A S Leon
D C Rao
J H Wilmore
C. Bouchard
Author Affiliation
Department of Kinesiology, Indiana University, Bloomington 46405, USA.
Source
J Appl Physiol (1985). 2001 May;90(5):1770-6
Date
May-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
African Continental Ancestry Group
Age Factors
Aged
Body Weight
Canada
European Continental Ancestry Group
Exercise - physiology
Female
Heart rate
Humans
Male
Middle Aged
Nuclear Family
Oxygen consumption
Physical Fitness
Sex Characteristics
United States
Abstract
Effects of age, sex, race, and initial fitness on training responses of maximal O(2) uptake (VO(2 max)) are unclear. Data were available on 435 whites and 198 blacks (287 men and 346 women), aged 17-65 yr, before and after standardized cycle ergometer training. Individual responses varied widely, but VO(2 max) increased significantly for all groups. Responses by men and women and by blacks and whites of all ages varied widely. There was no sex difference for change (Delta) in VO(2 max) (ml. kg(-1). min(-1)); women had lower initial values and greater relative (%) increases. Blacks began with lower values but had similar responses. Older subjects had a lower Delta but a similar percent change. Baseline VO(2 max) correlated nonsignificantly with DeltaVO(2 max) but significantly with percent change. There were high, medium, and low responders in all age groups, both sexes, both races, and all levels of initial fitness. Age, sex, race, and initial fitness have little influence on VO(2 max) response to standardized training in a large heterogeneous sample of sedentary black and white men and women.
PubMed ID
11299267 View in PubMed
Less detail

Age specific risks of familial prostate carcinoma: a basis for screening recommendations in high risk populations.

https://arctichealth.org/en/permalink/ahliterature20908
Source
Cancer. 1999 Aug 1;86(3):477-83
Publication Type
Article
Date
Aug-1-1999
Author
H. Grönberg
F. Wiklund
J E Damber
Author Affiliation
Department of Oncology, Umeå University, Sweden.
Source
Cancer. 1999 Aug 1;86(3):477-83
Date
Aug-1-1999
Language
English
Publication Type
Article
Keywords
Age Distribution
Aged
Cohort Studies
Family Health
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Nuclear Family
Prostatic Neoplasms - epidemiology - genetics
Registries - statistics & numerical data
Research Support, Non-U.S. Gov't
Sweden - epidemiology
Abstract
BACKGROUND: A positive family history is one of the strongest known risk factors for prostate carcinoma in addition to age and race. In this article, the authors present age specific risks for developing prostate carcinoma in families with an aggregation of prostate carcinoma. METHODS: Data from a population-based cohort study including 5706 sons of Swedish men who had been diagnosed with prostate carcinoma between 1959 and 1963 were used. The age specific incidence rates were calculated for different cohorts of prostate carcinoma families with respect to patient age at the time of prostate carcinoma diagnosis and the number of men affected. RESULTS: Both patient age at the time of prostate carcinoma diagnosis and the number of men affected in the families influenced the risk of developing prostate carcinoma significantly. Unaffected men in families with two or more cases of prostate carcinoma have a very high risk of developing prostate carcinoma at a young age. The cumulative risks in these families are 5%, 15%, and 30% by ages 60 years, 70 years, and 80 years, respectively, compared with only 0.45%, 3%, and 10%, respectively, at the same ages in the general population. CONCLUSIONS: The findings of the current study together with data from the literature support the case for the screening of high risk families. The authors also conclude that men with at least two close relatives with prostate carcinoma have a very high risk of developing prostate carcinoma before age 70 years. The authors recommend these men undergo testing for prostate specific antigen and a digital rectal examination annually between the ages 50 years 70 years, ages at which patients usually are offered curative treatment for localized tumors. Screening of individuals before age 50 years may be recommended in selected families with a history of prostate carcinoma of very early onset.
PubMed ID
10430256 View in PubMed
Less detail

Alcohol problems in Alaska Natives: lessons from the Inuit.

https://arctichealth.org/en/permalink/ahliterature83359
Source
Am Indian Alsk Native Ment Health Res. 2006;13(1):1-31
Publication Type
Article
Date
2006
me at all…I tried to run away, run to my grandparents’ house, and…one day they happened to see the bruises on my arms and they pulled up my shirt… She said, “Well, where did these come from?” Eff ects on nuclear families included separations, divorces, and loss of children who left home, were
  1 document  
Author
Seale J Paul
Shellenberger Sylvia
Spence John
Author Affiliation
Family Health Center, Macon, GA 31206, USA. seale.paul@mccg.org
Source
Am Indian Alsk Native Ment Health Res. 2006;13(1):1-31
Date
2006
Language
English
Publication Type
Article
File Size
378308
Keywords
Adult
Alaska - epidemiology
Alcoholism - ethnology - prevention & control - psychology - rehabilitation
Attitude to Health
Female
Focus Groups
Health Services, Indigenous
Humans
Interpersonal Relations
Inuits - psychology
Male
Motivation
Nuclear Family - psychology
Risk factors
Abstract
In this Alaska Native study, cultural "insiders" analyzed problems associated with increased alcohol availability, factors which have reduced alcohol-related problems, and ideas for improving treatment in an Inuit community. Participants described frequent binging, blackouts, family violence, suicide, loss of child custody, and feelings of intergenerational grief. Helpful existing treatment approaches include alcohol ordinances, inpatient treatment programs, twelve-step groups, and religious involvement. Participants urged the development of family treatment approaches which integrate Inuit customs and values.
PubMed ID
17602395 View in PubMed
Documents

131_Seale_Alcohol_Problems_1-31.pdf

Read PDF Online Download PDF
Less detail

Analysis of an interferon-gamma gene dinucleotide-repeat polymorphism in Nordic multiple sclerosis patients.

https://arctichealth.org/en/permalink/ahliterature71896
Source
Mult Scler. 2001 Jun;7(3):157-63
Publication Type
Article
Date
Jun-2001
Author
Y. Dai
T. Masterman
W X Huang
M. Sandberg-Wollheim
M. Laaksonen
H F Harbo
A. Oturai
L P Ryder
P. Soelberg-Sørensen
A. Svejgaard
J. Hillert
Author Affiliation
Division of Neurology, NEUROTEC, Karolinska Institutet at Huddinge University Hospital, Stockholm, Sweden.
Source
Mult Scler. 2001 Jun;7(3):157-63
Date
Jun-2001
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Cohort Studies
Dinucleotide Repeats
Disability Evaluation
Family Health
Female
Finland
Gene Expression - immunology
Genotype
Humans
Interferon Type II - genetics
Introns
Linkage (Genetics)
Male
Multiple Sclerosis - genetics
Nuclear Family
Polymorphism, Genetic
Prognosis
RNA, Messenger - analysis
Research Support, Non-U.S. Gov't
Scandinavia
Severity of Illness Index
Abstract
The proinflammatory cytokine interferon (IFN)-gamma has been shown to influence the course of multiple sclerosis (MS). The IFN-gamma (IFNG) contains a multiallelic dinucleotide repeat in intron 1. To investigate whether alleles at this locus influence susceptibility to MS, we performed linkage and familial association analyses on 100 sibling pairs from four Nordic countries, and case-control association analysis on 220 intermediately disabled sporadic MS patients and 266 controls. To determine the effect of the polymorphism on disease outcome, we compared genotype frequencies in the most and least disabled octiles of a total cohort of 913 cases. We also measured IFN-gamma mRNA levels in unstimulated peripheral blood mononuclear cells from 46 MS patients and 27 controls grouped according to IFNG intron 1 genotype. Both nonparametric linkage analysis and transmission disequilibrium testing of the 100 sibling pairs produced negative results. Genotype frequencies for intermediate-MS patients did not differ significantly from those for controls; nor did genotype frequencies in the benign-MS octile differ significantly from those in the severe-MS octle. Comparison of IFN-gamma mRNA levels in genotype-conditioned subgroups revealed no significant differences. Thus, alleles at the IFNG intron 1 dinucleotide repeat appear to affect neither MS susceptibility and severity nor IFN-gamma mRNA expression in vivo.
PubMed ID
11475438 View in PubMed
Less detail

267 records – page 1 of 27.