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BACKGROUND: The pattern of body fat distribution in women has been correlated with the risk of developing breast and endometrial cancer. The authors determined whether body fat distribution varied between first-degree relatives of patients with breast cancer and in cancer-free families by comparing the body fat distribution of first-degree relatives of patients with breast cancer with age and Quetelet Index-matched controls. METHODS: Fifty-six first-degree relatives of newly diagnosed patients with breast cancer were compared with 56 controls (non-cancer family members) matched for age and Quetelet Index and were studied for variation in body fat distribution. Anthropometric measurements were taken for the abdomen, thigh, suprailiac, subscapular, biceps, and triceps skinfold thickness; waist and hip circumference; weight; and height. The distribution of body measurements and derived ratios in both case and control family members were compared using the Student t test. RESULTS: A significant variation in body fat distribution occurred among first-degree relatives in breast cancer and control families. In families with a history of breast cancer, first-degree family members were found to have significantly greater waist:hip ratio (P < 0.001) compared with controls without family history matched for age and Quetelet Index. Other variables indicating upper body fat localization, such as abdomen and suprailiac skinfold were significantly greater in family members of patients with breast cancer compared with controls. CONCLUSIONS: A marked variation occurred in body fat localization among first-degree relatives of patients with breast cancer and in cancer-free families. This finding implies a variation in breast cancer risk in these families. Identifying family members with upper body fat distribution in breast cancer families would allow targeting of these individuals for energetic screening and risk factor reduction interventions.
The evidence for common familial factors underlying total fat mass (estimated from underwater weighing) and abdominal visceral fat (assessed from CT scan) was examined in families participating in phase 2 of the Québec Family Study (QFS) using a bivariate familial correlation model. Previous QFS investigations suggest that both genetic (major and polygenic) and familial environmental factors influence each phenotype, accounting for between 55% to 71% of the phenotypic variance in fat mass, and between 55% to 72% for abdominal visceral fat. The current study suggests that the bivariate familial effect ranges from 29% to 50%. This pattern suggests that there may be common familial determinants for abdominal visceral fat and total fat mass, as well as additional familial factors which are specific to each. The relatively high spouse cross-trait correlations usually suggest that a large percent of the bivariate familial effect may be environmental in origin. However, if mating is not random, then the spouse resemblance may reflect either genetic or environmental causes, depending on the source [i.e., through similar genes or cohabitation (environmental) effects]. Finally, there are significant sex differences in the magnitude of the familial cross-trait correlations involving parents, but not offspring, suggesting complex generation (i.e., age) and sex effects. For example, genes may turn on or off as a function of age and sex, and/or there may be an accumulation over time of effects due to the environment which may vary by sex. Whether the common familial factors are genetic (major and/or polygenic), environmental, or some combination of both, and whether the familial expression depends on sex and/or age warrants further investigation using more complex models.
Family planning was once a sensitive issue in Indonesia, but today it is considered essential. This paper reports on a study in 1997-98 of the role of village family planning volunteers and the cadres who worked under them in West Java, Central Java and DI Yogyakarta, in implementing the national family planning programme in Indonesia. A total of 108 village family planning volunteers, 108 family planning cadres, 108 local leaders and 324 couples eligible for family planning from 36 villages in the three provinces were interviewed. The volunteers and cadres have made a significant contribution to the implementation of the family planning programme. They promote family planning, organise meetings, provide information, organise income-generation activities, give savings and credit assistance, collect and report data and deliver other family welfare services. Teachers, wives of government officials and others recognised by the community as better off in terms of education and living conditions were most often identified to become family planning volunteers. Because they are women and because they are the most distant arm of the programme, their work is taken for granted. As their activities are directed towards women, especially in women's traditional roles, the programme tends to entrench the existing gender gap in responsibility for family planning and family welfare.
BACKGROUND: Parkinson's disease (PD) patients frequently report a family history of PD and this may provide etiological clues to PD. It has also been suggested that a report of a negative family history is reliable. We studied the prevalence of PD in relatives of PD patients to assess the reliability of family history and to evaluate possible explanations of "familial PD" (fPD). METHODS: 81 of 650 (12.5%) PD probands (all PD patients seen at clinic in 4 years) reported a positive family history of PD. Each fPD proband was matched with non-familial PD (nfPD) proband by gender and year of birth. Screening and follow-up questionnaires were mailed to relatives to obtain information concerning pedigree and presence of neurodegenerative disease. Available family members (regardless of disease status) were examined. RESULTS: On examination, 8 persons, said to be "normal" by probands, relatives and themselves, had definite or possible PD (5 fPD, 3 nfPD). The prevalence rate of PD among first and second degree living relatives of probands varied significantly between fPD and nfPD groups (6269/100,000 versus 1190/100,000; p < 0.001). The weighted prevalence (taking into account the proportions of fPD and nfPD within the clinic) was 1822/100,000, a value more than 5 times higher than reported prevalence rates of PD in the general population (p < 0.001). The prevalence rate was greater in first degree relatives than second degree. CONCLUSIONS: "Familial parkinsonism" cannot be explained merely by size of or advanced age within families. Significant numbers of previously unrecognized PD patients may be identified despite a "negative" family history. That is, the patient's report of an absence of familial parkinsonism is frequently inaccurate. The prevalence rate in relatives of PD patients appears to be higher than the general population-regardless of the family history reported by a PD patient. We believe our study suggests that genetic influences or early life environmental exposures are likely to be of etiological importance in PD.
Since 1993 we have studied 5 Spanish families with familial nephropathy associated with hyperuricemia (FJHN). Among these families, 24 patients have been identified. All patients had some combination of hyperuricemia, gout, renal insufficiency, arterial hypertension, and reduced kidney size. The clinical presentation in the different families and in the members of the same family was heterogeneous. Allopurinol treatment did not appear to influence renal disease. From a clinical perspective, this syndrome is a distinctive interstitial nephropathy, inherited as an autosomal dominant trait, that progresses to renal failure and is not halted nor prevented by allopurinol therapy. In 2003, genetic linkage analysis in 3 of the 5 families showed linkage of FJHN to 16p 11.2. One family was not analyzed and one family did not show linkage to this region confirming the genetic heterogeneity of this syndrome. A mutation in UMOD gene was found in these 3 families as the cause of the FJHN. The mutations cluster in exon 4 and exon 5 and were point mutation that results in an amino acid change in the uromodulin or Tamm Horsfall protein. This fact allowed in 2004, the presymptomatic genetic diagnosis of an 8-years-old boy belonging to one of these 3 Spanish families. We conclude that in families with a history of renal failure and/or gout in which FJHN is suspected, UMOD mutation screening may enable a definite diagnosis. When a mutation is found, family members can be tested for a UMOD mutation and pre-symptomatic diagnosis may allow counseling to prevent or halt the progression to renal insufficiency.
PURPOSE: The purpose of the study was to evaluate the role of family functioning in the stress process in a sample of caregivers of dementia patients by using a structural family framework. The stress-process model of caregiver distress included family functioning as an intervening variable in the relationship between objective burden and distress. We theorized family functioning to partially mediate the relationship between objective burden and distress and to significantly account for the prediction of distress beyond well-recognized predictors. DESIGN AND METHODS: One hundred eighty-one family caregivers from the Miami site of the Resources for Enhancing Alzheimer's Caregiver Health project participated in this study. We assessed sociodemographics, burden, depression, anxiety, and perceived health for each caregiver. We measured family functioning by using a multidimensional and observational instrument. We used structural equation modeling to assess the fit of the model for the overall sample and for different caregiver subgroups and to examine whether demographic variables affected the relationships in the model. RESULTS: The results of the study indicated that family functioning significantly contributed to distress in the overall sample and partially mediated the relationship between objective burden and distress. We also found that the stress-process model was adequately fit by the hypothesized relationships between objective burden, family functioning, and distress for the overall sample and all of the subsamples, except for wives. IMPLICATIONS: This study provides support for the structural family approach as an explanatory model for the influence of family functioning on dementia caregivers. Family structural functioning is one contributor to the caregiver stress process. This suggests that interventions targeting structural family problems may reduce caregiver distress.
OBJECTIVES: To study the familial aggregation of rheumatoid arthritis (RA) in The Netherlands and to analyse the effect of proband characteristics on the concordance rates for RA. Secondary aims were to compare the characteristics of patients in an early RA inception cohort with those of regular patients and to select Dutch families for the genome-wide scan carried out by the European Consortium on RA families (ECRAF). METHODS: A cross-sectional, hospital-based survey aimed to identify affected sibpair (ASP) families among our whole RA population. Familial RA, or an ASP family, was defined by the presence of at least two siblings fulfilling the 1987 ACR criteria for RA. RESULTS: The estimated prevalence for familial RA was 9.8% and similar to that found in previous hospital series. The true-positive reporting rate for RA in sibs was 60%. Sibship size in ASP families (mean +/- S.D. = 7.8+/-3.3) was significantly larger than in the Dutch population. Probands with familial RA were more often rheumatoid factor positive and had a longer follow-up. Male gender and history of joint replacements were associated with higher concordance rates for RA. However, regression analysis showed that, correcting for sibship size, the concordance rate for RA was largely not explained by proband characteristics. Compared to regular RA patients, our inception cohort encompassed more male and/or rheumatoid factor-negative patients, but had similar performance in the study and rate of familial aggregation. CONCLUSIONS: The familial aggregation of RA in The Netherlands is not increased and occurs preferentially in large sibships. Among proband characteristics, sibship size is most clearly related to the recurrence of RA in particular families. Patients' recognition of RA manifestations in relatives is not optimal.
In this study relationships between demographic variables and family dynamics of childbearing families in Finland were studied. The sample was 160 urban families expecting their first or second child in the third trimester of pregnancy. One-hundred and eighteen families participated in the study. The Family Dynamics Questionnaire (FDQ) and the Family Dynamics Measure (FDM) were used in this study. Most expectant parents reported their family was well-functioning. Mothers of higher socioeconomic status found more flexibility in their families than mothers of lower socioeconomic status. Fathers in families expecting their first baby reported more mutuality, role reciprocity and more stability than second-time fathers. The findings contribute cues for public health nurses and midwives regarding parity, socioeconomic status and family dynamics to provide more specific family guidance during the transition to parenthood. Realistic information on the changes in family dynamics after childbirth should be given to pregnant parents.
The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the subjects' general and domain-specific well-being were examined. The sample (n = 202) consisted of Finnish employees, aged 42, who had a spouse/partner. Confirmatory factor analyses indicated that a four-factor model, including negative work-to-family spillover, negative family-to-work spillover, positive work-to-family spillover, and positive family-to-work spillover, was superior compared to the other factor models examined. Path analysis showed, as hypothesized, that the negative work-to-family spillover was most strongly related to low well-being at work (job exhaustion) and next strongly to low general well-being (psychological distress), whereas the negative family-to-work spillover was associated with low well-being in the domain of family (marital dissatisfaction). Positive work-to-family spillover was positively related both to well-being at work and general well-being. Inconsistent with our expectations, positive family-to-work spillover was not directly related to any of the well-being indicators examined.
PURPOSE: We studied a large Dutch-Canadian family, in which two very rare hereditary paroxysmal neurologic disorders, familial hemiplegic migraine (FHM) and a "benign familial infantile epileptic syndrome" concur and partially cosegregate. FHM is a dominantly inherited subtype of migraine with attacks of hemiparesis, linked to chromosome 19p13 in 50% of the families tested. Recently mutations in a brain-specific P/Q-type Ca2+ channel alpha1 subunit gene (CACNL1A4) were identified in families with chromosome 19-linked FHM. The infantile epileptic syndrome resembles to two other dominantly inherited benign epilepsies occurring in the first year of life, benign familial neonatal convulsions (BFNC), assigned to chromosomes 20q13.2 and 8q, and benign infantile familial convulsions (BIFC), as yet unlinked. METHODS: Linkage analysis was performed for the known locations of FHM and BFNC. The question whether the two conditions in this family can be caused by a single gene defect was addressed by additional linkage analysis. RESULTS: We excluded linkage of the infantile convulsions to markers on chromosome 20q13.2, 8q, or 19p13. This indicates the existence of a third locus for benign familial convulsions in the first year of life. Linkage of FHM to these markers was not formally excluded but seems very unlikely. Statistical analysis of whether, in this family, both conditions are caused by a single gene defect was inconclusive. CONCLUSIONS: We describe a "benign familial infantile epileptic syndrome" with attacks of FHM at a later age. Further genetic studies in this family may help to unravel the genetic basis of epilepsy or migraine or both.
This article explores the relationship between family Problem Solving and the Health of adults in a community-based sample of 225 families. Family Problem Solving refers to the ways in which the family conducts itself to resolve a shared problem. Sixteen observer ratings of family Problem-Solving behavior during a 30-minute task were developed, based on the Simulated Family Activity Measure (SIM-FAM), and good interrater agreement was achieved. Principal Components Analysis (PCA) yielded a set of three well-constructed, interpretable dimensions: Problem-Solving Effectiveness, Problem-Solving Style, and Sociomotor Activity. Multidimensional scaling analyses (MDS) suggested that family problem-solving behavior involved an organized, means-end sequence of family behaviors in which aspects of style served problem-solving effectiveness. All 16 Problem-Solving variables were analyzed with a set of 14 health variables, for husbands and wives separately, using canonical correlation. No subset of Problem-Solving variables was significantly associated with a subset of Health variables for either husbands or wives, although there was a significant association between the two sets of variables when taken as a whole. Given previous research on family Problem Solving, we conclude that the absence of significant associations between particular aspects of family Problem Solving and Health may be due to our use of a community-based rather than a stressed or clinical sample. Associations between Family Problem Solving and Health might best be viewed in the context of other family variables.
BACKGROUND AND PURPOSE: We sought to test the linkage of familial intracranial aneurysms (FIAs) to the ELN (elastin) locus in chromosome 7q11 reported previously. METHODS: Intracranial aneurysm (IA) probands were searched from patient records or neurosurgeons' recalls in collaborating hospitals. Members of the participating probands' families who had unknown affection status were screened by MR angiography and diagnosed by digital subtraction angiography. Inclusion criteria of families for genetic analyses were as follows: at least 3 alive affected members or 2 alive affected members with at least 1 unaffected member (>or=60 years). Linkage to the ELN locus was tested with the use of GENEHUNTER by parametric and nonparametric methods. To exclude false-negatives in the linkage analysis, the lowest 5% limits of logarithms of the odds (LOD) and nonparametric LOD (NPL) scores for individual families and for the total set of families were simulated on assumption that the ELN locus is linked to FIAs. RESULTS: Questionnaires were sent to 885 patients, and 563 responded. Seventy-nine probands were positive for family history. One hundred thirty-four family members of unknown affection status were screened. A total of 14 families with 64 members met the criteria. Linkage to the ELN locus was discarded in 11 families and was inconclusive for 3 families. The total LOD and total NPL scores for 14 families were -8.04 and -0.643, respectively. Our conclusion did not change even when the values of penetrance were changed or only affected members were analyzed. CONCLUSIONS: The majority of aggregated IA Japanese families may not have a genetic linkage to chromosome 7q11.