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PubMed1992

Diagnosis of familial hypercholesterolemia using DNA haplotype analysis in three large families with two hyperlipidemic parents.

Since the cloning of the human LDL receptor (LDLR) gene, familial hypercholesterolemia (FH) can be diagnosed by recombinant DNA technology either using restriction enzyme mapping to detect major rearrangements of the gene or using restriction fragment length polymorphisms (RFLPs) and linkage analysis in family studies. Genotypes and haplotypes of four RFLPs (StuI, ApaII 5', PvuII, NcoI) were used to study the inheritance of the detective LDLR gene in three families. Diagnosis of FH based on the lipid levels alone was not possible because in these kindreds both parents exhibit elevated lipid levels. However, in two families using haplotype analysis, elevated cholesterol levels in certain relatives could be attributed to the inheritance of a defective LDRL gene and thereby distinguished from hypercholesterolemia due to familial combined hyperlipidemia. In the third family where both hypercholesterolemic parents carried a defective LDLR gene, a case of homozygous FH could be excluded in a child by demonstrating the inheritance of a normal LDLR gene.

Adult↗

PubMed2000

Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. The NHLBI Family Heart Study.

Familial combined hyperlipidemia (FCHL), the most common familial dyslipidemia, is implicated in up to 20% of cases of premature coronary heart disease. Although underlying mutations for FCHL have yet to be identified, several candidate genes/regions have been identified. A positive linkage to chromosome 1q markers has been reported, with the highest lod score of 5.93 occurring at a location between D1S104 and D1S1677. Using the same diagnostic criteria, the Family Heart Study (FHS) has defined 71 FCHL families, comprising 170 cases, for a total of 137 possible affected sibling pairs. The FCHL criteria require elevation in serum low density lipoprotein cholesterol and triglyceride levels within the family, with at least 2 affected first-degree relatives. Markers D1S104 and D1S1677 were typed, and significant allele sharing was found in FCHL sibships (multipoint lod score with use of the model from the Finnish study was 2.52, and multipoint nonparametric score was 2.48; P=0.007), replicating linkage in this chromosome 1 region. In addition, previously reported linkage of FCHL to apolipoprotein A-I/C-III/A-IV has been investigated in FHS families. FHS results revealed positive but nonsignificant allele sharing among FCHL sibships with apolipoprotein A-I/C-III/A-IV by use of marker D11S4127 (nonparametric linkage score 1.11, P=0.13). Two-locus analyses of D1S104 and D11S4127 suggested possible heterogeneity rather than epistasis, with a maximum 2-locus lod score of 3.05. A nonparametric 2-locus analysis revealed significant improvement in the 2-locus versus single-locus scores. Finally, no linkage was found with markers near the lipoprotein lipase gene region.

Alleles↗

PubMed1982

The effects of age, body wight and family relationships on plasma lipoproteins and lipids in men, women and children of randomly selected families.

Two hundred thirty-three families were randomly selected from a designated population base. Data from 619 persons ages 6--65 years had distributions of lipid and anthropometric values typical for the U.S. population. The typical rise in plasma cholesterol and triglyceride with age was also demonstrated. The plasma cholesterol and low-density lipoprotein (LDL) correlated more strongly with age than body weight, whereas the plasma triglyceride was more related to body weight than to age. High-density lipoprotein (HDL) was inversely correlated with weight and plasma triglyceride. Family membership accounted for approximately 20% of the variability in cholesterol, LDL, HDL and weight. Related family members (father-child, mother-child and siblings) had strong correlations for plasma cholesterol, LDL and HDL. These measurements did not correlate in the spouse pairs. The plasma triglyceride did not correlate for the family as a whole nor for the individual family members. This study indicates the importance of both chronic environmental factors and genetic family relationships on plasma lipids and lipoproteins.

Adolescent↗

PubMed1997

Broader autism phenotype: evidence from a family history study of multiple-incidence autism families.

OBJECTIVE: Studies of families ascertained through a single autistic proband suggest that the genetic liability for autism may be expressed in nonautistic relatives in a phenotype that is milder but qualitatively similar to the defining features of autism. The objective of this study was to examine behaviors that may define this broader phenotype in relatives ascertained through two autistic siblings. METHOD: The authors used a semistructured family history interview to compare the rates of social and communication deficits and stereotyped behaviors in relatives ascertained through two autistic siblings (families with multiple-incidence autism; 25 families) with the rates in relatives of Down syndrome probands (30 families). RESULTS: Higher rates of social and communication deficits and stereotyped behaviors were found in the relatives in the families with multiple-incidence autism. CONCLUSIONS: These data suggest that further studies should be undertaken to delineate the boundaries of the broader autism phenotype and that this broader phenotype should be included in some future genetic analyses of this disorder.

Adolescent↗

PubMed2003

Association of rapid mood switching with panic disorder and familial panic risk in familial bipolar disorder.

OBJECTIVE: Comorbid bipolar and panic disorders aggregate in families. A phenotypic trait shared by both disorders is the sudden shift in affect observed in panic attacks and some rapid cycling states. The authors investigated whether comorbidity of bipolar disorder and panic disorder is associated with rapid mood switching in families with a high rate of bipolar disorder. METHOD: Six hundred six subjects with bipolar disorder from the NIMH Bipolar Disorder Genetics Initiative were included in the study. Logistic regression analysis was used to analyze rapid mood switching as a function of panic disorder diagnosis, sex, and familial risk for panic. RESULTS: Familial panic and the diagnosis of panic disorder in an individual subject increased the odds for rapid mood switching. The familial effect persisted when individuals with panic disorder were excluded from the analysis. CONCLUSIONS: Panic and rapid mood switching occurring together in familial bipolar disorder may define a useful subphenotype for future studies.

Adult↗

PubMed2001

Pilot study of the effectiveness of the family-to-family education program.

This study assessed the efficacy of the Family-to-Family Education Program, a structured 12-week program developed by the National Alliance for the Mentally Ill. A total of 37 family members who participated in the program were evaluated by an independent research team of trained family member assessors at baseline, after completing the program, and six months after program completion. After completing the program, the participants demonstrated significantly greater family, community, and service system empowerment and reduced displeasure and worry about the family member who had a mental illness. These benefits were sustained at six months.

Adult↗

PubMed2006

Patient functioning and family burden in a controlled, real-world trial of family psychoeducation for schizophrenia.

OBJECTIVE: This study explored the effectiveness of a psychoeducational family intervention for schizophrenia on patients' personal and social functioning as well as on relatives' burden and perceived support. METHODS: Thirty-four mental health professionals from 17 public mental health centers in Italy selected 71 families of consumers with schizophrenia. Forty-two families were randomly assigned to a group that received the intervention for six months, and 29 families were assigned to a waiting list for six months. At baseline and six months later, validated tools were used to assess patients' clinical status, personal and social functioning, and social network as well as relatives' burden, social resources, and perception of professional support. RESULTS: In the intervention group the number of patients with poor or very poor global personal and social functioning decreased significantly, from 17 (47 percent) at baseline to nine (25 percent) at follow-up. A significant improvement was found for the intervention group in patients' social relationships, interests in obtaining a job, maintenance of social interests, and management of social conflicts. Twenty-seven patients (74 percent) reported that their social relationships had improved during the six-month period. For both the intervention and control groups, family burden significantly improved. Relatives' social contacts and perception of professional support significantly increased only in the intervention group. CONCLUSIONS: The results suggest that a psychoeducational family intervention may have a significant impact on functional outcomes of schizophrenia when provided to patients and caregivers in real-world settings.

Adult↗

PubMed2000

An evaluation of neurobehavioural problems as perceived by family members and levels of family stress 1-3 years following traumatic brain injury in Japan.

OBJECTIVE: To ascertain the proportion of patients with traumatic brain injury (TBI) admitted to a Japanese district hospital and to evaluate the levels of stress and anxiety in fami ies living with those TBI patients. DESIGN: A retrospective study of patients admitted to hospital from April 1995 to March 1997 and a questionnaire study of family members of survivors. SETTING AND SUBJECTS: All patients referred or transferred to the Emergency Department at the Saga Medical School Hospital, Japan with a primary diagnosis of TBI were studied. Family members living with TBI patients were sent questionnaires. MAIN OUTCOME MEASURES: The Barthel Index, the Patient Competency Rating Scale, the modified Caregiver Strain Index and the Hospital Anxiety and Depression Scale. RESULTS: There were 34 patients who required hospitalization for care relating to TBI. Of these, nine family members took part in the questionnaire study. Three carers reported fairly high levels of stress and another three carers were considered to be at risk of anxiety and depression. There was a tendency for family members who reported that patients had difficulties in performing behavioural tasks to have higher levels of stress themselves. CONCLUSION: These preliminary results showed that family members experienced certain levels of stress and were also at risk of anxiety and depression. The impact of TBI on families as well as patients should receive more attention.

Adolescent↗

PubMed2006

Important needs of families in acute and palliative care settings assessed with the family inventory of needs.

Family support has been recognized in the development of palliative care in Iceland, yet studies focusing on family needs are lacking. The aims of this study were to evaluate the perceived care needs of family members of patients receiving palliative care, to what extent these needs were met, and whether needs differed based on background characteristics and site of care. Family members of 111 patients from acute and palliative care settings agreed to participate, and 67 (60%) completed the study. The Family Inventory of Needs was used to quantify family needs and to what extent they were met. All 20 needs measured were considered important. The number of needs did not differ by site of palliative care. Overall, health care professionals met 67% of needs. Needs were more likely to be met in specialized palliative care settings than on acute units and the needs of spouses were more likely to be met than others.

Acute Disease↗

PubMed1998

Initial and follow-up screening for aneurysms in families with familial subarachnoid hemorrhage.

BACKGROUND AND OBJECTIVE: In families with two or more relatives with subarachnoid hemorrhage (SAH), other first-degree relatives have an increased risk of SAH. We studied the presence of unruptured intracranial aneurysms in 125 members of 23 families with familial SAH, defined as two or more affected first-degree relatives, in a cross-sectional design. METHODS: MR angiography was performed in 116 relatives; CT angiography was performed in the remaining 9 relatives because they had been treated for intracranial aneurysms in the past. RESULTS: Overall, we found 16 aneurysms in 10 of 125 relatives (8%; 95% CI, 4 to 14%). Of the nine patients with previous surgery for ruptured or unruptured intracranial aneurysms, three had new aneurysms. Two factors were associated with a significantly higher risk of intracranial aneurysms: 1) a history of treatment for ruptured or unruptured intracranial aneurysms (relative risk 5.5; 95% CI, 1.7 to 17.8) and 2) having three or more affected relatives (relative risk 3.3; 95% CI, 1.0 to 10.6). Siblings tended to have a higher risk of intracranial aneurysms than did children of SAH patients, although the difference was not significant. CONCLUSIONS: Because the yield is high, screening is recommended in first-degree members of families with familial SAH. Repeated screening should be considered in relatives who have been treated for familial intracranial aneurysms.

Adolescent↗

PubMed2001

Ethical issues in family care of older persons with dementia: implications for family therapists.

Despite a considerable literature on family care of the elderly, comparatively little attention has been devoted to the ethical dimensions of caring for frail and dependent older family members. Nor is there an extensive literature available to guide family therapists or others in the helping professions who work with families experiencing ethical dilemmas and issues associated with caring for elderly loved ones. The purpose of this paper is to highlight some of the ethical dilemmas families face in caring for an elderly loved one, and to identify several ethical principles that can be used to address these dilemmas. There is an explicit focus on families caring for aged parents afflicted with a dementia such as Alzheimer's disease.

Aged↗

PubMedDate not supplied

[Different approaches to the family in the context of the family health program/strategy].

This study presents the scenario that favored the inclusion of the family as a care focus in public policies. The strategies to interrupt the impoverishment and vulnerability of families in the XXth century occur in a different form, according to different "welfare states" in capitalist societies. However, in view of the welfare state crisis and the increasing costs of public and private services and privates, at least a partial family solution is required in terms of reducing its dependency. The Family Health Program (PSF) put the family on the Brazilian social policy agenda in 1994, reflecting interests from the neoliberal model as well as from solidary social forces. This inclusion generated different approaches, such as: family/individual; family/home; family/individual/home; family/community; family/social risk; family/family. These approaches, due to the lack of a mutual dialogue, end up composing an insufficiently identified picture, thus turning care more difficult. The conditions indicated here should be examined as a way of giving a true chance to the family

Brazil↗

PubMed2006

Associations between family support, family intimacy, and neighborhood violence and physical activity in urban adolescent girls.

We examined the association between various dimensions of the family environment, including family intimacy and involvement in activities, family support for physical activity, and neighborhood violence (perceived and objective) and physical activity among urban, predominantly African American, ninth-grade girls in Baltimore, Md. Greater family intimacy (P = .05) and support (P = .01), but not neighborhood violence, was associated with physical activity. Family factors, including family intimacy and support, are potential targets in physical activity interventions for urban high-school girls.

Adolescent↗

PubMed1990

Violent tactics in family conflict relative to familial and economic factors.

A study was conducted to examine the social, economic, and family process factors which may be associated with families' use of violent tactics in conflict within an homogeneous population in the Appalachian region of southwestern Virginia. The primary hypothesis stated that economic conditions as set by the employment status of parents would be a significant factor in predicting use of violence in the resolution of family conflict. The study employed a questionnaire modeled after that used in a national study of family violence conducted by Straus, Gelles, and Steinmetz in 1980 with additional items developed to assess regional family processes and economic conditions. 114 boys and 161 girls ranging in age from 15 to 17 yr. participated. Statistical analysis confirmed the major hypothesis: in families where the father was unemployed, there was greater than expected frequency of reported violent interactions. Additional findings included associations between previous generation's abuse and use of violent interactions as well as sex of subject and use of violent interactions.

Adolescent↗

PubMed1995

The effects of family structure and family relations on adolescent marijuana use.

The role of family structure in adolescence has been linked to a host of problem behaviors, including marijuana use. This paper investigates the relationship between family structure and marijuana use, and elaborates previous research by 1) exploring several intervening mechanisms that affect the relationship, and 2) examining the effects of a variety of family forms. Analyses of data from the National Youth Survey (1977-79) indicate that 1) a parental divorce or living with a stepparent decreases family attachment among adolescents; 2) attenuated family attachment and involvement increase the likelihood of associating with drug-using peers; and 3) less family involvement and increased associations with drug-using peers increase the probability of initiating marijuana use and elevate frequency of use.

Adolescent↗

PubMed2000

The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2.

Breast cancers arising in carriers of mutations in the breast cancer susceptibility genes, BRCA1 and BRCA2, differ histologically from each other and from breast cancers unselected for a family history. However, a substantial proportion of families with multiple cases of breast cancer is not attributable to these two genes (non-BRCA1/2 families). We have now characterized the pathology of 82 breast cancers from non-BRCA1/2 families. Breast cancers in non-BRCA1/2 families were of lower grade (P = 0.0018), showed fewer mitoses (P < 0.0001), less nuclear pleomorphism (P = 0.0014), less lymphocytic infiltrate (P < 0.0001), a lesser extent of the tumor with a continuous pushing margin (P = 0.004), a lesser extent of the tumor composed of solid sheets of cells (P = 0.0047), less necrosis (P = 0.002), and wereparison with BRCA2 tumors, non-BRCA1/2 tumors were lower grade (P = 0.017) and exhibited less pleomorphism (P = 0.01) and more tubule formation (P = 0.05). In comparison with control breast cancers unselected for a family history of the disease, non-BRCA1/2 tumors were of significantly lower grade (P = 0.001), showed less pleomorphism (P = 0.0002), and had a lower mitotic count (P = 0.003). The results indicate that non-BRCA1/2 breast cancers differ histologically from both BRCA1 and BRCA2 breast cancers and are overall of lower grade. They also suggest that non-BRCA1/2 breast cancers differ from nonfamilial breast cancers, but these differences may be attributable to various types of bias.

BRCA2 Protein↗

PubMedDate not supplied

The HeartSmart Family Fun Pack: an evaluation of family-based intervention for cardiovascular risk reduction in children.

In 1998, the Heart and Stroke Foundation launched the HeartSmart Family Fun Pack, a "user-friendly" resource to support family-based lifestyle changes among children age 6-12 years. Of 1,387 parents who completed a pre-intervention questionnaire, 300 (21%) were surveyed three months later. Comparisons of the pre- and post-intervention surveys show that the Family Fun Pack was effective in supporting healthy lifestyle changes (38% and 28% of families reported improvement in their child's nutrition and level of physical activity, respectively; 12% reported reduced passive smoking). Effectiveness was greatest among those families who self-identified themselves as being in what corresponds to the contemplation, preparation and action stages of change. This evaluation suggests that a relatively low-cost intervention can be effective in supporting positive lifestyle changes if targeted to families at specific points in the stages of change.

Canada↗

PubMed1975

Toward clarification of objectives for family practice and family medicine.

This paper analyzes the social boundaries derived from an adequate definition of family practice and family medicine and explores the social dynamics between them and other social institutions and disciplines, More precise objectives for family practice and family medicine are delineated using a model which specifies social targets, methods, and purpose of intervention. Implication for further research in family medicine are discussed as well as their future effect on family practice.

Delivery of Health Care↗