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PubMed1986

Performance of agoraphobic families vs. non-agoraphobic families on the Sixteen Personality Factor Questionnaire (16PF).

This study investigated whether the personality variables, as measured by the Sixteen Personality Factor Questionnaire (16PF), differed significantly between families with an agoraphobic parent and families with nonagoraphobic parents. Participants were 15 agoraphobic female parents and 5 male agoraphobic parents, their spouses, and children. Two matched control groups of subjects (comparable to the female agoraphobic and male agoraphobic families) were used. Significant differences in personality variables were found between the families with agoraphobic parents and their matched controls. Significant personality differences among family members in the agoraphobic family were evident, and they also differed according to whether the agoraphobic parent was female or male.

Adult↗
PubMed2004

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.

Germ-line mutations within BRCA1 are responsible for different proportions of inherited susceptibility to breast/ovarian cancer, and the spectrum of mutations within this gene is often unique to certain populations. At this time, there have been no reports regarding the role of BRCA1 in South African breast and/or ovarian cancer families. We therefore screened 90 South African breast/ovarian cancer families for BRCA1 mutations by means of PCR-based mutation detection assays. Eighteen families (20%) were identified with BRCA1 disease-causing mutations. Four Ashkenazi Jewish families were identified with the 185delAG mutation, whereas 2 Afrikaner and 1 Ashkenazi Jewish family were found to harbor the 5382insC mutation. Five of the families (5.56%), all of whom are Afrikaners, were found to carry the novel E881X mutation. Genotype analyses show that these patients share a common ancestor. Genealogic studies have identified 3 possible founding couples for this mutation, all of whom arrived in the Cape from France in the late 1600s. Of the remaining mutations detected, 3 have not been reported previously and include the S451X, 1493delC (detected twice) and 4957insC mutations.

Adult↗
PubMed1997

Food and general neophobia and their relationship with self-reported food choice: familial resemblance in Swedish families with children of ages 7-17 years.

The aims were to study food and general neophobia in Swedish families, age and gender differences and familial resemblance. Also, the relationships between the level of food neophobia of individual family members and earlier experience with and the likelihood of future tasting of specific foods were investigated. A group of randomly selected families (nation-wide, stratified, N=1593) with children age 7-17 years were invited and 722 participated. The results are based on the Food and General Neophobia Scales and an ad hoc Food Frequency Questionnaire. The overall levels of food and general neophobia were low. Fathers showed significantly higher total food neophobia scores than did the mothers, and children were significantly more neophobic than their parents. The younger children had higher food and general neophobia scores than the older children. Nine-year-old boys had higher food neophobia scores than 9-year-old girls. Some evidence was found for familial resemblance with respect to both food and general neophobia. Gatekeepers' (the person who takes the greatest responsibility for food purchase and preparation) self-reported serving of the foods and mothers', fathers' and children's self-reported consumption of foods were correlated with their respective levels of food neophobia. The strongly neophobic subjects in all groups of family members were less likely to have eaten the listed foods than were the less neophobic. Thus, food neophobia seems to be related to everyday food choice.

Adolescent↗
PubMed2001

Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse.

CD20, high-affinity IgE receptor beta chain (FcepsilonRIbeta), and HTm4 are structurally related cell-surface proteins expressed by hematopoietic cells. In the current study, 16 novel human and mouse genes that encode new members of this nascent protein family were identified. All family members had at least four potential membrane-spanning domains, with N- and C-terminal cytoplasmic domains. This family was therefore named the membrane-spanning 4A gene family, with at least 12 subgroups (MS4A1 through MS4A12) currently representing at least 21 distinct human and mouse proteins. Each family member had unique patterns of expression among hematopoietic cells and nonlymphoid tissues. Four of the 6 human MS4A genes identified in this study mapped to chromosome 11q12-q13.1 along with CD20, FcepsilonRIbeta, and HTm4. Thus, like CD20 and FcepsilonRIbeta, the other MS4A family members are likely to be components of oligomeric cell surface complexes that serve diverse signal transduction functions.

Amino Acid Sequence↗
PubMed2000

Evolutionary and molecular analyses of the Borrelia bdr super gene family: delineation of distinct sub-families and demonstration of the genus wide conservation of putative functional domains, structural properties and repeat motifs.

B. turicatae, a causative agent of relapsing fever, carries a polymorphic gene family that is homologous to the bdr gene family of the Lyme disease spirochetes (previously referred to as the rep+ or ORF-E gene family). Here we demonstrate that bdr related genes are widely distributed among pathogenic Borrelia species and exist as large, polymorphic, plasmid carried, gene families. Twenty distinct bdr alleles were identified in isolates of the relapsing fever spirochete, B. hermsii, and were localized to linear plasmids. Cloning and sequence analyses demonstrate that the putative Bdr functional domains (i.e. the phosphorylation motifs and the transmembrane C-terminal domain) are conserved across the genus while other regions of these proteins exhibit variability. An assessment of the evolutionary relationships among all known Bdr protein sequences obtained from five pathogenic Borrelia species revealed that there are distinct Bdr sub-families. The recognition of distinct phyletic clusters serves as the basis of a revised and simplified nomenclature for the bdr proteins that can be applied genus wide. At the biological level the delineation of multiple bdr sub-families within isogeneic populations raises the possibility that there may be functional partitioning among alleles. In summary, the distribution and conservation of the Bdr proteins suggests that they are important in the biology/pathogenesis of the Borrelia at the genus wide level.

Amino Acid Sequence↗
PubMed2000

Familial aggregation of serum total cholesterol: a population-based family study in eastern Finland.

BACKGROUND: The Finnish population has a high risk of coronary heart disease, which is associated to a high population level of serum total cholesterol (CHOL) already evident at early ages. The study investigated the familial aggregation of CHOL in a sample of families with young offspring from eastern Finland. METHODS: Fifteen-year-old offspring were examined during 1996-1997 and their biological parents were examined during 1993-1994. A total of 224 children were invited and 184 families participated, of which 123 were included in the analysis with complete data. The main outcome measure was the CHOL (millimoles per liter). RESULTS: Significant positive familial correlations of CHOL were found for the pairs of mother/offspring (r = 0.35, P < 0.001, n = 111), father/offspring (r = 0.29, P = 0.007, n = 82), mother/daughter (r = 0.46, P = 0.001, n = 49), mother/son (r = 0.27, P = 0.036, n = 62), and father/daughter (r = 0.35, P = 0.035, n = 36). The adjustments for the offspring's gender and body mass index (BMI) and the parent's age, BMI, education, and family history of acute myocardial infarction did not alter these results. There was a higher proportion of the offspring in the highest quartile of CHOL when the mother had CHOL > or =5 mmol/L (OR = 3.26, 95% CI = 1.2-8.9, n = 111). CONCLUSIONS: The study confirmed the familial aggregation of CHOL. The consistent CHOL association between the mother and the offspring may indicate the key role of the mother for the primary prevention of hypercholesterolemia.

Adolescent↗
PubMed1993

Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?

Familial Mediterranean fever (FMF) is an autosomal recessive disorder of unknown pathogenesis, characterized by recurrent, self-limited attacks of fever with synovitis, peritonitis, or pleurisy. Using DNAs from affected Israeli families, we have recently mapped the gene causing FMF (designated MEF) to the short arm of chromosome 16, with two-point lod scores in excess of 20. In this report we consider the possibility of a second FMF susceptibility locus. Before discovering linkage to markers on chromosome 16, we had found suggestive evidence for linkage to chromosome 17q, with the following maximal two-point lod scores: D17S74 (pCMM86), Z = 2.47, (theta = 0.20); D17S40 (pLEW101), Z = 2.15 (theta = 0.15); D17S35 (CRI-pP3-1), Z = 1.78 (theta = 0.15); D17S46 (pLEW108), Z = 1.69 (theta = 0.18), D17S254, Z = 2.30 (theta = 0.20). Moreover, multipoint linkage analysis using D17S74 and D17S40 as fixed loci gave Z = 3.27 approximately 10 centimorgans (cM) telomeric to D17S40. Data with the chromosome 17 markers alone in our families suggested locus heterogeneity. Nevertheless, our families were not separable into complementary subsets showing linkage either to chromosome 16 or to chromosome 17. We also examined the possibility that the positive lod scores for chromosome 17 might reflect a secondary, modifying locus. By several measures of disease severity, families with positive lod scores for chromosome 17 loci had no worse disease than those with negative lod scores for these loci. We conclude that chromosome 17 does not encode a major FMF susceptibility gene for some of the families, nor does it encode a disease-modifying gene. Rather, it would appear that linkage to chromosome 17 is a "false positive" (type I) error. These results reemphasize the fact that a lod score of 3.0 corresponds to a posterior probability of linkage of 95%, with an attendant 1 in 20 chance of observing a false positive.

Blotting, Southern↗
PubMed1995

Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue.

Familial Creutzfeldt-Jakob disease was first described in a family from northern Germany in the 1920s (Backer family). PCR amplification of DNA extracted from brain tissue embedded in celloidin 72 years ago shows a GAC to AAC substitution at codon 178 of the prion protein gene. This mutation is associated with fatal familial insomnia and familial Creutzfeldt-Jakob disease in a number of families of diverse ethnic background.

Aged↗
PubMed1989

Family functioning in families with older institutionalized retarded offspring.

Psychological distress, marital satisfaction, family adaptability, and cohesion are explored in 31 families with mentally retarded (MR) institutionalized offspring (late adolescence and young adulthood) and 38 comparison families. Multivariate analyses indicate no differences between the groups, although univariate analyses point to higher levels of cohesion in the families with MR offspring and the importance of the construct of adaptability in understanding family functioning. The results are discussed in terms of the adaptive coping mechanisms of the families with MR offspring and the implications of this for intervention, research, and policy.

Adaptation, Psychological↗
PubMed2006

The squash aspartic proteinase inhibitor SQAPI is widely present in the cucurbitales, comprises a small multigene family, and is a member of the phytocystatin family.

The squash (Cucurbita maxima) phloem exudate-expressed aspartic proteinase inhibitor (SQAPI) is a novel aspartic acid proteinase inhibitor, constituting a fifth family of aspartic proteinase inhibitors. However, a comparison of the SQAPI sequence to the phytocystatin (a cysteine proteinase inhibitor) family sequences showed approximately 30% identity. Modeling SQAPI onto the structure of oryzacystatin gave an excellent fit; regions identified as proteinase binding loops in cystatin coincided with regions of SQAPI identified as hypervariable, and tryptophan fluorescence changes were also consistent with a cystatin structure. We show that SQAPI exists as a small gene family. Characterization of mRNA and clone walking of genomic DNA (gDNA) produced 10 different but highly homologous SQAPI genes from Cucurbita maxima and the small family size was confirmed by Southern blotting, where evidence for at least five loci was obtained. Using primers designed from squash sequences, PCR of gDNA showed the presence of SQAPI genes in other members of the Cucurbitaceae and in representative members of Coriariaceae, Corynocarpaceae, and Begoniaceae. Thus, at least four of seven families of the order Cucurbitales possess member species with SQAPI genes, covering approximately 99% of the species in this order. A phylogenetic analysis of these Cucurbitales SQAPI genes indicated not only that SQAPI was present in the Cucurbitales ancestor but also that gene duplication has occurred during evolution of the order. Phytocystatins are widespread throughout the plant kingdom, suggesting that SQAPI has evolved recently from a phytocystatin ancestor. This appears to be the first instance of a cystatin being recruited as a proteinase inhibitor of another proteinase family.

Amino Acid Sequence↗
PubMed1993

Prospective associations among family form, family processes, and adolescents' alcohol and drug use.

The present study was designed to disentangle and define the unique contributions of family form and family processes to substance use and association with deviant peers among adolescents. Eighty adolescents and their mothers participated in the study; half were from divorced single-parent families and half were from families in which the parents were still married. Maternal assessments of interparental conflict and the quality of the mother-adolescent relationship were used to prospectively forecast adolescent reports of substance use and affiliation with deviant peers one year later. The results revealed that mother-adolescent conflict predicted adolescent alcohol use, and maternal acceptance-rejection predicted both drug use and affiliation with deviant peers. These findings support the hypothesis that family processes rather than family form forecast adolescents' substance use and deviant peer affiliation. Clinical implications of the findings are discussed.

Adolescent↗
PubMed1984

The family heart dietary intervention program: community response and characteristics of joining and nonjoining families.

A random sample of 501 eligible families was selected from a designated neighborhood in Portland, Oregon, and given the opportunity to join a 5-year intervention program promoting a low-fat and low-cholesterol eating pattern designed to reduce risk for coronary heart disease. Participation entailed three baseline assessments of clinical, dietary, and psychological indices, periodic follow-up measurements, and monthly small group meetings led by psychologists and nutritionists. A prior home health survey allowed comparisons of respondents from joining and nonjoining families in terms of reported health status, health beliefs, health locus of control, knowledge about health and nutrition, and demographic characteristics. Almost half (47%) of all invited families agreed to join this long-term nutrition intervention program and completed the necessary baseline assessments. Factors discriminating joiners and nonjoiners were not generally consistent with the health belief model of preventive health behavior. Joiners were similar to nonjoiners in terms of perceived susceptibility to disease, family health histories, and reports of elevated plasma cholesterol levels in the family. However, families with hypertensive members were less likely to join this heart disease prevention program. Positive predictors of participation included higher occupational status, greater knowledge about heart disease, a more internal health locus of control, and the belief that there are few barriers preventing the adoption of a healthier low-fat eating pattern. These findings indicate that there is widespread community interest in optimal nutrition, and they also provide suggestions as to what motivates the general public to take preventive health actions.

Adolescent↗
PubMed1996

Angiographically silent atherosclerosis detected by intravascular ultrasound in patients with familial hypercholesterolemia and familial combined hyperlipidemia: correlation with high density lipoproteins.

OBJECTIVES: This study sought to evaluate the extent of atherosclerosis in coronary and iliac arteries in patients with heterozygous familial hypercholesterolemia or familial combined hyperlipidemia, using intravascular ultrasound imaging. BACKGROUND: Intravascular ultrasound imaging provides cross-sectional tomographic views of the vessel wall and allows quantitative assessment of atherosclerosis. METHODS: Forty-eight nonsmoking, asymptomatic patients with heterozygous familial hypercholesterolemia or familial combined hyperlipidemia underwent intravascular ultrasound imaging of the left anterior descending coronary, left main coronary and common iliac arteries. Angiography showed only minimal or no narrowing in these vessels. Intravascular ultrasound images obtained during catheter pullback underwent morphometric analysis. Plaque burden was expressed as the mean and maximal intimal index (ratio of plaque area and area within the internal elastic lamina) and as the percent of vessel surface covered by plaque. RESULTS: Intravascular ultrasound detected plaque more frequently than angiography in the left anterior descending (80% vs. 29%, respectively), left main (44% vs. 16%) and iliac arteries (33% vs. 27%). Plaque burden was higher in the left anterior descending (mean intimal index [+/- SD] 0.25 +/- 0.16) than in the left main (0.11 +/- 0.16, p < 0.001) and iliac arteries (0.02 +/- 0.04, p < 0.001). Angiography detected lumen narrowing only in coronary arteries with a maximal intimal index > or = 0.42 (left anterior descending artery) and > or = 0.43 (left main artery). The area within the internal elastic lamina increased with plaque area in the left anterior descending (r = 0.82, p < 0.001) and left main arteries (r = 0.53, p < 0.001). By stepwise multiple regression analysis, the strongest predictor for plaque burden in the left anterior descending artery was the level of high density lipoprotein (HDL) cholesterol and total/HDL cholesterol ratio for the left main artery. CONCLUSIONS: In patients with heterozygous familial hypercholesterolemia and familial combined hyperlipidemia, extensive coronary plaque is present despite minimal or no angiographic changes. Compensatory vessel enlargement and diffuse involvement with eccentric plaque may account for the lack of angiographic changes. Levels of HDL cholesterol and total/HDL cholesterol ratio are far more powerful predictors of coronary plaque burden than are low density lipoprotein cholesterol levels in these patients with early, asymptomatic disease.

Adult↗
PubMed1996

The prepared family caregiver: a problem-solving approach to family caregiver education.

Early hospital discharges, greater reliance on outpatient care, and the growing prevalence of chronic diseases has increased the demands on family members who care for patients at home. Family caregivers need information and training to insure that patients' needs are met and that home care is coordinated with that of health professionals. We propose a prescriptive problem-solving model for how care should be managed at home and for the kinds of information and training family caregivers should receive. The Prepared Family Caregiver model, which is summarized in the acronym COPE (Creativity, Optimism, Planning, and Expert information), teaches family caregivers how to develop and carry out orderly plans which address both medical and psychosocial problems and are coordinated with care plans of health professionals. The model is based on extensive research on problem-solving training and therapy. It empowers family members and patients for coping with illness and can help to moderate caregiver stress.

Adaptation, Psychological↗
PubMed1989

Associations among family support, family stress, and personal functional health status.

The self-reported family support and stress of 249 ambulatory adult patients, aged 18-49 years, were studied relative to their self-reported functional health. Support from family members was found to be related positively with emotional function. Stress from family members was associated negatively with symptom status, physical function, and emotional function. Patients' severity of illness was related negatively to their symptom status, physical function, and social function, but not to their emotional function. During the study a new self-report instrument, the Duke Social Support and Stress Scale (DUSOCS), was developed to measure family and non-family support and stress. Also, a new chart audit methodology, the Duke Severity of Illness Scale (DUSOI), was designed to assess severity in the ambulatory setting. Reliability and validity of the DUSOCS and the DUSOI were supported. The importance of the patient's perception of health and its family determinants is emphasized.

Adolescent↗
PubMed2004

Gender differences in familial aggregation of obesity-related phenotypes and dietary intake patterns in Korean families.

PURPOSE: To investigate familial influences on obesity-related phenotypes and dietary intake patterns, and to examine gender differences in Korean families with adolescent children. METHODS: A cross-sectional observational study was conducted on 134 biologically related families composed of 260 parents and 231 adolescent children aged 11 to 19 years. Anthropometric measurements, including total fatness and fat distribution, were measured. Dietary intake was assessed by the semi-quantitative food frequency questionnaire (FFQ). RESULTS: The odds ratio and 95% confidence intervals for overweight were 6.6 (range, 1.5-29.7) in the sons and 13.7 (range, 2.5-76.4) in the daughters of overweight parents. Obesity and fat distribution in the adolescents were more significantly correlated with mothers than fathers. Daughters had more significant familial aggregations with their parents than did sons. The dietary intake patterns of both sons and daughters correlated more strongly with their mothers than their fathers. We observed significant correlations in anthropometric variables and dietary intake patterns between spouses and between siblings. CONCLUSIONS: In the contemporary Korean nuclear family, maternal anthropometry and dietary behavior have a greater impact on children than do paternal contributions, and daughters resemble their parents more than sons. Genetics and environmental factors within the family infrastructure may provide strategies for the prevention and treatment of adolescent obesity.

Adolescent↗
PubMed2006

Associations of apolipoprotein B with pulse pressure and glucose in Chinese families with familial combined hyperlipidemia.

Familial combined hyperlipidemia (FCHL), with a marked elevation of apolipoprotein B (apoB), is estimated to cause 10-20% of premature coronary artery disease. However, little data are available to demonstrate the associations of apoB with pulse pressure and glucose levels in FCHL families in China. This study was to investigate the potential influence factors for blood pressure and glucose phenotypes in FCHL families by multiple linear regression analysis. We recruited 147 FCHL relatives and 90 spouses, aged 30 to 60 years, from 42 Chinese families with FCHL. Our results showed that triglyceride and low density lipoprotein cholesterol were associated with fasting glucose levels (all P<0.05). Body mass index and glucose significantly correlated to systolic blood pressure, diastolic blood pressure, and mean arterial pressure, respectively (all P<0.05). Furthermore, apoB was significantly related to pulse pressure and glucose in FCHL families (all P<0.05). Thus, this study demonstrates that apoB is significantly associated with pulse pressure and glucose levels in FCHL families. Accordingly, our data suggest that apoB may be a candidate risk marker for pulse pressure and glucose in FCHL populations.

Adult↗
PubMed2005

Family-based and case-control association studies of glutamate receptor GRIK3 Ser310Ala polymorphism in Polish patients and families with alcohol dependence.

The aim of this study was to evaluate the role of the GRIK3 functional polymorphism (Ser310Ala) in the pathogenesis of alcoholism. This polymorphism was investigated in two types of studies: (1) the association study in a whole group of alcoholics (116 patients fulfilling ICD-10 alcohol dependence (AD) criteria and 255 controls, Polish descent) and homogenous overlapping subgroups of patients with: a history of delirium tremens and/or alcohol seizures, early age of onset of alcoholism (AOO<26 years), a co-occurrence of dissocial personality disorder, a history of familial alcoholism; (2) the family-based study (using Transmission Disequilibrium Test (TDT) in 100 Polish families with alcohol dependence). The history of alcoholism was obtained using SSAGA (Polish version). GRIK3 functional polymorphism was determined using PCR. TDT revealed an adequate transmission of both alleles to the affected offspring in the whole group of alcohol families (29 x Ser, 24 x Ala; chi2=0.472; d.f.=1; p=0.492) and in the homogenous subgroups of families. No significant associations between any of the above mentioned alcohol phenotypes and Ser310 allele were observed (the whole AD group: p=0.66 AD with delirium and/or seizures: p=0.521; early onset AD: p=0.868; AD with familial history of alcoholism: p=0.798 and AD with dissocial personality disorder: p=0.618). These findings do not seem to support the hypothesis of the role of this polymorphism in the pathogenesis of alcoholism.

Adult↗