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PubMed2005

HLA-DR genotypes in familial rheumatoid arthritis: increased frequency of protective and neutral alleles in a multicase family.

OBJECTIVE: We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. METHODS: HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. RESULTS: The most common alleles in the 6 persons with RA were HLA-DRB1*07 and DRB1*15, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. CONCLUSION: HLA-DRB1*07 and DRB1*15 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.

Adult↗
PubMed2006

[A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].

OBJECTIVE: Benign familial infantile convulsions (BFIC) is a form of idiopathic epileptic syndrome characterized by onset of afebrile seizures between 3 and 12 months of life, Spontaneous remission after several weeks or months, and autosomal dominant mode of inheritance. Previous linkage analysis in western countries defined three susceptible loci on chromosomes 19q12.0-13.1, 16p12-q12, and 2q23-31, but studies performed in several Chinese families with BFIC got negative results of these previously reported loci. The authors investigated the relation of voltage-gated potassium channel gene KCNQ2 to BFIC in a Chinese family and thus to understand the molecular pathogenesis of BFIC. METHODS: A four-generation Chinese BFIC family was investigated. All the affected 17 members had similar pattern of seizures starting from 2 to 6 months of age. In 15 of them, the seizures disappeared spontaneously within the first year of life. The phenotype extended beyond infancy only in two patients. Blood sample was collected from the 41 family members and 75 unassociated normal individuals. Polymerase chain reaction (PCR)-DNA direct sequencing was performed to screen all exons and their flanking introns of KCNQ2 gene for mutation analysis. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was used to ascertain the co-segregation of genotype and phenotype and to exclude polymorphism. RESULTS: PCR amplification and subsequent direct sequencing of KCNQ2 from the DNA of proband revealed a heterozygous guanine to thymine nucleotide exchange (G812T) in exon 5, leading to the substitution of glycine by valine at amino acid position 271 (G271V) of the predicted protein. The same mutation with a comparable localization has been previously described for KCNQ3 in benign familial neonatal convulsions (BFNC). The glycine at this position (G271) is located in pore region of KCNQ2 protein and is evolutionarily highly conserved. The same SSCP variant as that of the proband was shown in the rest of the affected members of this family but not in the unaffected members enrolled in the study of this family and all the 75 unrelated normal individuals. CONCLUSION: Previously reported mutations of KCNQ2 were mainly identified in BFNC family in which at least one individual had an onset of seizures during the first week of life, a hallmark of the BFNC disorder. The results of the present study suggest the possibility that KCNQ2 mutation exist in patients with BFIC diagnosis. G812T of KCNQ2 gene is a novel mutation found in BFIC and functional expression of KCNQ2 G812T is required for understanding the mechanism of BFIC and other idiopathic epilepsy.

Adult↗
PubMed1985

Amyloidotic polyneuropathy in a Jewish family. Evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies.

The first instance of familial amyloidotic polyneuropathy affecting a Jewish family is reported. Vitreous opacities were its presenting feature in the father at age 30 and the son at 25. Severe autonomic dysfunction and progressive peripheral neuropathy affecting initially the lower extremities soon followed. Death, suicidal in the son, occurred after seven and four years of illness. Their amyloid contained three proteins-an entire variant monomer of prealbumin, glycine replacing threonine as residue 49, and both products of its cleavage at the point of substitution. Lower limb familial amyloidotic polyneuropathy has been recorded in many families in Portugal, Sweden and Japan and occasionally in families of various ethnic stocks. This ethnic diversity prompts consideration of genetic heterogeneity. Differentiation on a genetic basis is forestalled since all pedigrees are compatible with autosomal dominant transmission and clinical data are marred by observer variance, even regarding vitreous opacities. Notwithstanding, an isolated British family is unique in the frequent occurrence of intractable peptic ulceration, cataracts, deafness and renal disease not attributable to amyloidosis and a striking predominance of males afflicted. Biochemically, monomeric prealbumin has been demonstrated by electrophoretic and immunologic techniques as the single protein constituent of amyloids isolated from Portuguese, Japanese and Swedish patients. The variant prealbumin of Japanese amyloid is characterised by methionine replacing valine as residue 30 and is identical to that found in plasma (but not as yet in amyloid) of affected Swedes. These limited data suggest that: (a) derivation of their amyloids from prealbumin is the biochemical common denominator of lower limb familial amyloidotic neuropathies regardless of the ethnic derivation of the afflicted; (b) to the extent that ethnic diversity reflects genetic heterogeneity, this will be demonstrable in the amyloid (and hopefully in the plasma) of the afflicted as entity-specific variant prealbumin monomers distinguished by different single amino acid substitutions; (c) on clinical and biochemical grounds, lower limb familial amyloidotic neuropathies include at least three genetic entities. In the upper limb and facial forms of familial amyloidotic polyneuropathy first recorded in Swiss and Finns respectively, the differences in their patterns of neurological disease and ocular lesions could be the result of their amyloids deriving from proteins other than prealbumin.

Adult↗
PubMed1996

Familial abdominal aortic aneurysms: screening of 71 families.

OBJECTIVE: To find out the local prevalence of familial abdominal aortic aneurysms. DESIGN: Retrospective open study. SETTING: University hospital, Finland. SUBJECTS: 71 families of patients operated on for abdominal aortic aneurysm. INTERVENTIONS: Ultrasound screening, personal interviews and study of population registers, death certificates and hospital records. MAIN OUTCOME MEASURES: The diagnosis of asymptomatic abdominal aortic aneurysms. RESULTS: 148 of the 291 patients operated on replied to our letter (51%). The ultrasound examination was carried out on 123 siblings and detected abdominal aortic aneurysm in one sister (1/78 about 1%) and four brothers (4/45 about 9%). By the other methods data were obtained on 77 siblings (54 men and 23 women) of whom two sisters and six brothers were found to have abdominal aortic aneurysms. When the figures for the 71 families were combined, 10% of the brothers (10/99) and 3% of the sisters (3/101) had abdominal aortic aneurysms. These siblings were from 11 different families and so the prevalence of families with at least two affected persons was 16% (11/71). The index patient in 65 families was male and the prevalence of risk families (with two or more cases of aneurysm) in this group was 15% (10/65). The index case was a woman in six families giving a prevalence of 33% (2/6) (p = 0.2 between the groups). CONCLUSION: The screening of families of patients with abdominal aortic aneurysms should be restricted to the brothers of these patients.

Adult↗
PubMed1997

Familial resemblance for body composition measures: the HERITAGE Family Study.

A sex-specific familial correlation model was used to assess the heritable contributions to several measures of body composition in 86 sedentary white families participating in the HERITAGE Family Study. For this study, sedentary families were recruited, tested for a battery of measures, endurance exercise trained for 20 weeks, and remeasured. This sample is unique in that activity level was controlled for in these families at baseline measurement. In this report, three body composition variables measured at baseline were analyzed, two indexing adiposity (total subcutaneous fat based on eight skinfold measurements [SF8] and percent body fat measured by underwater weighing techniques [%BF]) and one assessing fat free mass ([FFM] derived from underwater weighing). The maximal heritabilities for SF8 (34%) and %BF (62%) were consistent with those reported in previous studies. There were no sex nor generation differences in the familial correlations, and the spouse correlation was significant, consistent with the hypothesis that the familial aggregation reflects genetic and familial environmental factors. However, the results for FFM were very different. The most parsimonious pattern of familial resemblance was consistent with mitochondrial inheritance (i.e., mother-offspring and sibling correlations were equal and were larger than those for spouse and father-offspring pairs). Under the mitochondrial hypothesis, 39% of the variance was accounted for by familial/genetic effects. However, under a nonmitochondrial hypothesis, which could not be ruled out, 65% of the FFM phenotypic variance was accounted for by familial/genetic factors. This high heritability level, as compared with results from previous studies, is consistent with the hypothesis that activity may constitute an important environmental determinant of FFM. These alternative hypotheses for FFM warrant further investigation using complex multilocus-multitrait segregation models, which allow for major genetic, polygenic, and environmental sources of variance, as well as interactions among them.

Adipose Tissue↗
PubMed1998

[Familial multiple sclerosis: a study of six families].

INTRODUCTION: Multiple sclerosis (MS) is a demyelinating disorder of the CNS, of autoimmune pathology and unknown aetiology. Several theories regarding its aetiology have been suggested, although none seems to be completely convincing. Genetically predisposed persons are affected, therefore groups of MS are seen in certain families. OBJECTIVES: To describe the family links, type of illness and evolution of 12 patients from six families with two or more members diagnosed as having MS, and to evaluate any differences from the other cases recorded in our data base. PATIENTS AND METHODS: We studied 12 patients diagnosed on the criteria of Poser, and with at least one first or second degree relation with MS. We compared clinical data, form of presentation and course with 127 patients recorded in the data base. RESULTS: We describe six families: two homozygotic twins, two families in which transmission was from father to child and three families with first degree cousins affected. We found no clinical variation in the presentation, number of attacks or evolution, as compared with the other patients. Nor was there homogeneity between the familial forms of MS. CONCLUSIONS: Familial forms make up approximately 10% of the series. We do not have any data available for early diagnosis nor for prognostic significance of familial MS.

Adult↗
PubMed1982

The family meets the hospital. Clinical presentation of a laboratory-based family typology.

This report portrays the distinctive clinical features of four groups of families with psychiatrically hospitalized adolescents. The classification of families into the four groups was made by objective measures of their performance in a standard problem-solving task. Clinicians, blind to this classification, synthesized and described their clinical impressions of these families. There were clear differences among the four groups in family dynamics and in the adolescents' ward behavior. Furthermore, families who experienced themselves as an integrated group became more effectively engaged in a family-oriented inpatient treatment program. Families with noticeable alienation between members did not become effectively engaged in the family-oriented program and may be better candidates for other approaches to inpatient care.

Adolescent↗
PubMed1994

Family System Test (FAST): are parents' and children's family constructs either different or similar, or both?

Perceptions of family cohesion and hierarchy structures were assessed by the Family System Test (FAST), a clinically-derived figure placement technique. Parents (N = 140) and their preadolescent offspring (N = 70) completed typical and conflict representations in individual as well as group settings. Typical representations were characterized by balanced family structures (i.e. cohesive and moderately hierarchical) and those displaying conflict situations showed predominantly unbalanced patterns. FAST portrayals were related to respondent (mother vs. father vs. child). Fathers represented typical family relations as balanced more often than mothers. Regarding conflict representations, children were more likely than fathers to portray the family as unbalanced. However, analyses of representations of the same family (i.e. intra-family comparisons) indicated that all respondents differed in their perceptions and, that fathers' typical portrayals showed most often the same structure as those done by the family members as a group.

Adult↗
PubMed2006

Effects of family risk factors on dosage and efficacy of a family-centered preventive intervention for rural African Americans.

This study was designed to test hypotheses about family risk factors and their links to dosage and efficacy of a family-centered preventive intervention. Participants were 172 families with an 11 year-old child randomly assigned to the intervention condition in the Strong African American Families Program (SAAF). Two family risk factors, ratio of adults to children in the household and youth unconventionality, were negatively related to dosage, defined as number of intervention sessions attended. Dosage, in turn, was associated with changes in targeted parenting behavior across the 7 months between pretest and posttest. The effect of family risk factors on the link between program dosage and changes in parenting behavior was stronger for families experiencing more risks. The results highlight the need for engagement strategies for recruiting and retaining high-risk families in preventive interventions.

Adult↗
PubMed1983

Aspects of living conditions among groups of disabled children and their families in Norway: family situation, mothers' health, financial assistance.

A survey of 875 disabled children in Norway aged 0-19, representing ten different disabling conditions, was carried out between January 1976 and December 1978. Parents of the disabled children were interviewed, medical records studied and the children examined. Mother's age, level of education, presence of disabled siblings, spouse's education and profession as well as emergency situations related to the disabled child's condition appeared to be factors influencing the mother's health and therefore inevitably the family's ability to cope with the situation. Social insurance seemed to have been granted in a rather haphazard way; only families of children suffering from hemophilia, mental retardation, spina bifida and cerebral palsy seemed to have received fairly adequate social insurance benefits. Families of children suffering from juvenile rheumatoid arthritis, asthma, congenital heart disease and epilepsy had received less social insurance assistance than those in the other groups. One-parent families had received more social insurance than others. Families with children who were totally dependent on their parents, who had several diagnoses or had spent much time in hospital, had also been granted more social insurance. Welfare benefits distributed by local authorities had mainly been given to families who were also receiving social insurance benefits and to families of children with brain damage. Almost half of all families expressed needs for welfare benefits which had not been met. Thus, there seemed to be an underconsumption of both social insurance and welfare benefits, particularly among some diagnostic groups.

Adolescent↗
PubMed2004

What works for therapists conducting family meetings: treatment integrity in family-focused grief therapy during palliative care and bereavement.

The purpose of this study was to evaluate the treatment integrity of Family-Focused Grief Therapy (FFGT), a preventive intervention designed for families at high risk of poor functioning during palliative care and bereavement. From the 81 families participating in a randomized controlled trial (53 assigned to therapy), 28 were randomly selected for this study of treatment fidelity using the FFGT integrity measure. A total of 109 family sessions were appraised. This represented a review of 62% of treated families, 38% of total therapy sessions, and 87% of the 15 participating therapists. Weighted mean percentage occurrences of therapist behaviors permitted trends in therapy application to be observed. Inter-rater reliability using the FFGT integrity measure was satisfactory, with 88% overall agreement. Eighty-six percent of therapists adhered faithfully to core elements of the model. Therapist competence was evidenced by a strong therapeutic alliance (94%), affirmation of family strengths in over 90%, and focus on agreed themes in 76% of sessions. Therapists averaged 10 grief-related questions per session, 7 on communication-related issues during assessment, 7 on conflict late in therapy, and 4 on cohesiveness across the course of therapy. Consistent application of FFGT, with attention to its four key themes of family communication, cohesiveness, conflict resolution, and shared grief has been demonstrated. The model is generalizable when applied by family therapists.

Adult↗
PubMed2004

Observations of early triadic family interactions: boundary disturbances in the family predict symptoms of depression, anxiety, and attention-deficit/hyperactivity disorder in middle childhood.

This article argues for the importance of focusing explicitly on the construct of boundary disturbances in families to understand the development of depressive, anxious, and attention-deficit/hyperactivity disorder (ADHD) symptoms in middle childhood. Grounded in family systems theory, this study examined traditional parent-child antecedents of childhood depression and anxiety (hostile, controlling, and disengaged interactions) in the context of the entire family as well as enmeshed patterns, whereby one parent drew in the child by turning to the child for caregiving or intimacy and excluded the spouse, and balanced patterns, whereby all family members expressed vulnerabilities and asserted their needs or desires. Mostly White, middle-class mothers, fathers, and children were observed at home interacting on a series of everyday tasks when the children were 24 months old, and mothers and teachers rated children's symptoms of anxiety, depression, somatic problems, and ADHD at age 7. Regression analyses revealed that, after controlling for maternal depression and the effects of other family patterns, enmeshed family patterns forecast children's depressive symptoms; controlling and disengaged interactions predicted anxious and depressive symptoms; and hostility forecast ADHD and somatic complaints. Intriguing gender differences emerged. As predicted, whereas boys who experienced enmeshed family patterns more often developed symptoms of ADHD, girls who experienced enmeshed family interactions later showed symptoms of depression.

Adolescent↗
PubMedDate not supplied

[Family burden in schizophrenia: effects of socio-environmental and clinical variables and family intervention].

OBJECTIVE: Description of burden, attitudes and received professional support in a sample of relatives of patients with schizophrenia recruited in 8 Italian Mental Health Services (MHS), stratified by geographic areas and population density. DESIGN: Cross-sectional study on key-relatives of clinically stable patients with a DSM-IV diagnosis of schizophrenia. Evaluation of: a) relationships of family burden with patient's clinical characteristics, family's socio-demographic variables, relative's attitudes toward the patient, professional and social support received by the family; b) differences in the levels of burden, attitudes and support received by the family with respect to geographical area and population density. SETTING: 8 Italian MHS stratified by geographic areas (Northern, Central, Southern Italy) and population density (urban vs. rural areas). MAIN OUTCOME MEASURES: Patient's clinical status and social functioning: BPRS and ADC. Family burden, attitudes and support received by the family: FPQ. RESULTS: Data on 144 patients and their key-relatives were collected. Higher levels of burden were found among relatives referring to Southern MHS. The burden was found positively correlated with the levels of patients' BPRS positive and manic/hostility symptoms and disability, and with the number of daily hours spent by the relative in contact with the patient, and negatively correlated with the levels of professional support received by the family. CONCLUSIONS: The results of this study highlight the need to provide rehabilitative programmes for patients with schizophrenia as well as informative and psychoeducational interventions for their families.

Adolescent↗
PubMed1996

Family resemblance in energy and macronutrient intakes: the Stanislas Family Study.

BACKGROUND: There seems to be a consensus that family influences on dietary habits are important but few studies have addressed this issue directly. The purpose of this study was to determine if and how dietary intake aggregates within families. METHODS: We examined the family aggregation of energy intake and the proportion of protein, fat and carbohydrate in the diet, estimated by a 3-day food consumption diary in 387 middle-class French families. RESULTS: For energy and all macronutrients, spouse-spouse and child-child correlations were higher than parent-child correlations suggesting the minor contribution of genetics and the preponderant role of cultural and residual random environment. Variance component analysis confirmed the absence of genetic component for energy and all macronutrients and underlined the important role of a cohabitational effect for parents. Cultural inheritance represented 30-40% of dietary intake variance for children. Families who shared meals together more often had a lower residual random component. With the increasing number of meals eaten together (> 45/week versus < or = 45/week), between-generation components increased by about 10% for fat and carbohydrate, while for protein intake, the between-generation component for both parents (about 27%) and children (about 37%) remained unchanged. CONCLUSIONS: The general finding that dietary intake aggregates within families and that the individual behaviours are greatly influenced by characteristics within the family unit such as the number of meals eaten together provides additional justification for health promotion programmes that target the family as the unit for intervention.

Adolescent↗
PubMed1995

Family routines: a construct for considering family health.

Nursing has tended to focus on health needs of individuals rather than the life-style implications of health for families and the natural support systems they provide. Health care reform is demanding that new methods be formulated for ensuring health promotion, disease prevention, and health maintenance within our society in a cost-effective and cost-efficient way. The article considers family routines as a construct for entering into dialog with families about their health. Family routines are observable relationship patterns occurring among family members on a consistent basis that describe, explain, and predict the uniqueness of families as the members interact and respond to their environment. Family routines provide an authentic demonstration of identifiable family health practices that can serve as areas for developing, implementing, and evaluating health interventions.

Activities of Daily Living↗
PubMedDate not supplied

Family history-taking in community family practice: implications for genetic screening.

PURPOSE: To identify characteristics of physicians, patients, and visits associated with obtaining family history information in community family practice. METHODS: Research nurses directly observed 4,454 patient visits to 138 family physicians and reviewed office medical records. RESULTS: Family history was discussed during 51% of visits by new patients and 22% of visits by established patients. Physicians' rates of family history-taking varied from 0% to 81% of visits. Family history was more often discussed at well care rather than illness visits. The average duration of family history discussions was <2.5 minutes. CONCLUSIONS: These data can form the basis for realistic interventions to increase the use of family history in primary care.

Adolescent↗
PubMed1984

Family boundary ambiguity: a new variable in family stress theory.

The variable, degree of family boundary ambiguity, is increasingly being used in family research to describe and predict the effects of family membership loss and change over time. Boundary ambiguity is defined as the family not knowing who is in and who is out of the system. The family may perceive a physically absent member as psychologically present or a physically present member as psychologically absent. In either case, the family boundary is ambiguous. This review is presented to clarify the meaning of boundary ambiguity and to explore its scope and application as a variable. We focus here on (a) the process of theory development, inductive and deductive, by which the construct of boundary ambiguity was identified and validated as a continuous variable within family stress theory; (b) the historical antecedents of the construct; and (c) the interrelationships of the variable with other factors related to stressed families.

Family↗
PubMed1988

Scripts and legends in families and family therapy.

Protective family scripts prescribe interaction that the family believes is needed to avoid potentially dangerous scenarios. Certain family legends provide moral tales that illustrate these dangers and hence reinforce these scripts. Together they contribute to family mythology. In the absence of adequate research data about specific effects of particular interventions, the therapist has to rely on his or her own beliefs about what works to change unhelpful family beliefs and interaction patterns. This essay examines the interplay between the two belief systems by exploring one of the author's own family legends and then seeing how its injunctions have been played out in his family therapy practice, thereby illustrating how myths and protective practices may be set up within the field of family therapy and its training.

Anecdotes as Topic↗