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Familial aggregation of blood pressure and weight in adoptive families. I. Comparisons of blood pressure and weight statistics among families with adopted, natural, or both natural and adopted children.

Tests of homogeneity of means, variances and correlations for systolic blood pressure (BP), diastolic BP and weight among subdivisions of a smple of adoptive families are presented. The means and variances of either type of BP, but not weight, were not significantly heterogeneous among families grouped according to the number of parents and children, natural and/or adopted, in the family unit. Estimates of correlation between family members wree not heterogeneous among subdivisions for each of the three variables. Our results indicate that these data are suitable for a genetic analysis of familial aggregation. Pooled correlations suggest that the degree of resemblance of BP and of weight between family members varies within and across generations. Correlations involving the adoptees were significantly different from zero only for diastolic BP.

Adolescent

Familial aspects of mixed connective tissue disease (MCTD). I. Occurrence of systemic lupus erythematosus in another member in two families and aggregation of MCTD in another family.

Three families are reported in which one member had MCTD and another member had either MCTD or systemic lupus erythematosus (SLE). In one family both mother and daughter probably had MCTD. The daughter, however, had prominent SLE features and kidney involvement. In another family, the mother had MCTD and the daughter had SLE; while in a third family one sister had MCTD and the other had SLE with prominent arthritis but negative anti-ribonucleoprotein (RNP) antibodies.

Adult

Familial aggregation of blood pressure and weight in adoptive families. II. Estimation of the relative contributions of genetic and common environmental factors to blood pressure correlations between family members.

An analysis of the familial aggregation of blood pressure (BP) was conducted to provide estimates of the role of genes and household environment in determining the phenotypic resemblance between biologically related family members. The biological model used for this analysis parameterizes the correlations between family members into the contributions of genetic and environmental variability shared within and across generations. Hypothesis testing about different parameters in the model suggests that shared environment explains larger fractions of the parent-natural child and the full sib correlations for diastolic BP than for systolic BP. For diastolic BP, children in a household share the effects of common environment in addition to the effects which they share with their parents. Dependence of the degree of resemblance between household members on the effects of environmental factors shared within and a-ross generations is not explained by the variability of length of cohabitation among individuals.

Adolescent

Family care in a family practice group.

A fundamental claim of family medicine is that the family physician treats the "whole" family--an ideological principle that guides undergraduate and residency education. Using archival data obtained from a random sample of 500 patients in one group of family physicians, this study analyzed the extent to which this principle is carried out in practice. Physicians trained in family practice residency programs were compared with their colleagues. Family types and marital stability were also examined. Results indicate that in only 28 percent of families (excluding single person households) were all family members seen by the same family physician. This occurred despite the high preponderance and stability of traditional nuclear families in the practice. There was no significant difference in this rate between graduates and nongraduates of approved family practice residency programs.

Adolescent

Circumplex model of marital and family systems: III. Empirical evaluation with families.

This study was designed to test the circumplex model of family systems that hypothesizes moderate family cohesion and moderate adaptability to be more functional than either extreme. Thirty-one Catholic family triads with daughters ranging in age from 14 to 17 years participated in a structured family interaction game (SIMFAM) and filled out questionnaires that measured the variables of cohesion and adaptability and the facilitative variables of support and creativity. All families were considered normal but were subdivided into those that had more and less difficulty with this adolescent. Analysis of the data yielded considerable support for the circumplex model. High family functioning was associated with moderate family cohesion and adaptability, and low family functioning had extreme scores on these dimensions. As predicted, high family support and creativity were also related to high family functioning. Implications of these findings for family therapy are discussed.

Adaptation, Psychological

[Familial myeloproliferative syndromes. Study of 6 families and review of literature].

Ten clinical observations concerning six families with familial myeloproliferative disorders are reported. Family no. 1 : two brothers, RES with myelosclerosis and ROS with chronic myeloid leukemia. Family no. 2 : PG atypical myeloproliferative syndrome and his brother polycythemia vera. Family no. 3 : DF myelosclerosis and her son (DR) polycythemia vera. Family no. 4 : DM, polycythemia vera, the mother and a sister with splenomegaly. The brother died with myelofibrosis. Family no. 5 : GA and ML, cousins with polycythemia vera. Family no. 6 : MB and ZG, a brother and sister with polycythemia vera. No consanguinity and no toxic, infections or malignant etiology were found in these families. The literature reviewed emphasises the rarity of the familial incidence of myeloproliferative disorders.

Adult

Guidelines for family interviewing and brief therapy by the family physician.

Psychosomatic and behavioral problems are commonly seen in the practice of family medicine. If these problems are viewed as difficulties with family interaction, rather than as difficulties of an individual family member, intervention may be more successful. Treatment of families with problems involves interviewing the family unit, identifying and altering dysfunctional behavioral patterns within the family which serve to maintain the problem, and making selected referrals to experienced family therapists.

Behavior

Familial immunopathies: report of nine families and survey of literature.

Nineteen individuals are reported who represent nine familial instances of various immunopathies. Multiple myeloma was diagnosed in 10 members of five families, lanthanic (idiopathic) paraproteinemia in five members of two families and either myeloma or lanthanic paraproteinemia in four members of the remaining two families. The parent-child relationship occurred in three instances, siblings were affected in three, and first cousins in three families. Immunochemical studies revealed IgG paraprotein in nine cases; IgA in three; IgMl type in three subjects belonging to the same family; Bence-Jones protein in one case and biclonal paraproteinemia, IgGk plus IgAl in one. Three individual cases of lanthanic paraproteinemia, discovered in a prospective study of 76 relatives of subjects with immunopathies, suggest that there may be a higher frequency of immunopathies among family members than observed in the general population of comparable age. The published reports on familial paraproteinemias are reviewed..

Adult

Family awareness for nonclinicians: participation in a simulated family as a teaching technique.

This paper describes a course in family theory geared to "well" family members that combines didactic and experiential teaching techniques. A key feature of the course is that students participate in a simulated family for twelve weeks. Family therapists are skilled at using techniques that powerfully dramatize family process; they can provide a needed and useful service to the community by teaching the dynamics of families functioning to people who have a personal or professional interest in learning more about families.

Awareness

Familial cutaneous collagenoma: genetic studies on a family.

Familial cutaneous collagenoma is an inherited condition characterized by the presence of multiple dermal nodules symmetrically distributed on the trunk and upper arms. In this study, six patients, the proband, his four siblings and a niece, representing a kindred of fifty-two subjects, were examined for aymptomatic cutaneous nodules mainly on the back and chest. The individual lesions varying from a few millimetres to several centimetres in size, were indurated, and showed minimal epidermal changes. Histologically, the nodules were characterized by an excessive accumulation of dense, coarse collagen fibres in the dermis. The elastic fibres appeared diminished in number, and in some areas they were abnormally thin and fragmented. The lesions, therefore, were connective tissue naevi of the collagen type. On the basis of the family history and histological observations the patients were diagnosed as having familial cutaneous collagenoma. Examination of the family pedigree indicated that the dermal nodules in familial cutaneous collagenoma were inherited in an autosomal dominant pattern. It was also observed that the lesions had an onset at the age of 15 to 19 years, and their number increased significantly during pregnancy. It is conceivable that familial cutaneous collagenoma is an inherited condition whose expression may be under a hormonal control.

Adolescent

The excretion patterns of urinary glucosaminoglycans in a family with progressive familial myoclonus epilepsy.

The urinary excretion of uronic acid and the electrophoretic composition of urinary glucosaminoglycans were studied in 10 members of a family, of which 3 had progressive familial myoclonus epilepsy. This seems to be the first detailed investigation of the excretion of urinary glucosaminoglycans in patients suffering from this neurologic disease. The uronic acid excretion was found to be increased in the affected family members exclusively, whereas the excretion of the unaffected members were found within the normal limits characterized in this investigation. The urinary glucosaminoglycans could be separated into 5 fractions by electrophoresis. One or two of these fractions were increased in the urines of the three affected family members, the clinically most affected member showing the most abnormal electrophoretic results. An abnormal electrophoretic distribution of fractions was also found in the urines of 5 other members, clinically not affected. Only the maternal part of the family (mother and maternal grandmother) was shown to have a normal electrophoretic distribution of urinary glucosaminoglycans. The implication of these electrophoretic differences in the paternal and maternal family on the conditions for the development of the disease is discussed. The two fractions in question (designated fraction-0.65 and fraction-0.71) have until now been regarded as glycoproteins, but the present results show that they are true glucosaminoglycans (acid mucopolysaccharides), probably of low sulphate content.

Adolescent

Circumplex model of marital and family system: I. Cohesion and adaptability dimensions, family types, and clinical applications.

The conceptual clustering of numerous concepts from family therapy and other social science fields reveals two significant dimensions of family behavior, cohesion and adaptability. These two dimensions are placed into a circumplex model that is used to identify 16 types of marital and family systems. The model proposes that a balanced level of both cohesion and adaptability is the most functional to marital and family development. It postulates the need for a balance on the cohesion dimension between too much closeness (which leads to enmeshed systems) and too little closeness (which leads to disengaged systems). There also needs to be a balance on the adaptability dimension between too much change (which leads to chaotic systems) and too little change (which leads to rigid systems). The model was developed as a tool for clinical diagnosis and for specifying treatment goals with couples and families.

Adaptation, Psychological

Family interaction and communication deviance in disturbed and normal families: a review of research.

Recent family interaction studies are reviewed with an emphasis on looking for dimensions along which disturbed and normal families differ. Several areas of consistency in the literature were found, including: family coalition patterns, patterns of conflict, flexibility versus rigidity, family effectiveness and efficiency, and deviant styles of communication. It was concluded that several measures reliably discriminate disturbed from normal families and that one type of measure in particular is a reliable predictor of thought disorder in offspring. Implications for clinical practice and future research are discussed.

Affective Symptoms

Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family.

Fatal familial insomnia (FFI) is a rare, autosomal dominant prion disease caused by a mutation in the PRNP gene, leading to the misfolding of the cellular prion protein (PrPC) into its pathogenic form (PrPSc). This results in neurodegeneration, particularly in the thalamus, a key region regulating sleep-wake cycles, which underlies the hallmark symptoms of FFI, including insomnia, autonomic dysfunctions, motor disturbances and cognitive decline. This study focuses on a Portuguese family with FFI, providing a detailed pedigree analysis spanning five generations and comprising 134 individuals, to elucidate inheritance patterns, disease onset, and clinical progression. The findings confirm the autosomal-dominant inheritance pattern and a strong familial clustering of the disease with age of onset in the late 50s (mean 57 years). Although 67% of affected individuals succumbing to the disease within months to 1.5 years, a notably 33% exhibited prolonged survival beyond the typical disease duration, exceeding proportions reported in the literature. Family members retrospectively reported prodromal symptoms, including generalized pain, headaches, tinnitus, pruritus, and behavioral changes, occurring up to five years before diagnosis. In several cases, reportedly, disease onset was associated with major phycological stressors (e.g., emotional stress or mourning). While the significance of these observations remains uncertain, they may provide insights into potential early features in this kindred. Further research integrating genomic sequencing, biomarkers, and longitudinal clinical assessments are needed to better understand the mechanisms underlying the heterogeneity of FFI and to explore potential therapeutic interventions.

Humans

Hairy cell leukemia-associated familial lymphoproliferative disorder: immunologic abnormalities in unaffected family members.

Three generations of a family were affected by hematologic malignancies: the proband had hairy cell leukemia, his brother chronic lymphocytic leukemia, his nephew cutaneous and central nervous system lymphoma, and his father chronic granulocytic leukemia. There was no clinical evidence for immune deficiency in 17 unaffected family members. Most family members had normal serum immunoglobulins and peripheral B-cells, but some had decreased T cells. Lymphocyte responses to phytohemagglutinin and concanavalin A were markedly reduced, while pokeweed mitogen responses were essentially normal. Delayed hypersensitivity responses determined by response to a 23-antigen skin test panel were markedly diminished, as were viral antibody titers. The decreased immune function in these family members suggests a role for the immune system in the emergence of hairy cell leukemia and other lymphoid malignancies, though further follow-up will be needed to see if other family members develop malignancies.

Adolescent

Foster-family care for the elderly: surrogate family or mini-institution?

The rationale behind adult foster care (AFC) has been that "participation in the life of the family" is superior to institutionalization. The extent to which AFC is familial has been widely debated, ranging from claims that this environment provides a surrogate family, to claims that it is no more than a mini-institution. This paper discusses the extent to which elderly clients are integrated into the family and the method by which such integration was measured in a sample of one hundred adult foster homes in New York State. The four dimensions used to measure familism were Affection, Social Interaction, the performance of Ritual, and the minimization of Social Distance.

Affect