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At least 775 records · Page 43Linked to original sources
PubMed1998

Familial bipolar disorder: preliminary results from the Otago Familial Bipolar Genetic Study.

OBJECTIVE: This paper outlines the methodologies used, and preliminary descriptive data collected, on a cohort of familial bipolar disorder (BPD) probands and first-degree relatives taking part in a descriptive and genetic study into familial BPD in New Zealand. METHOD: Fifty-five bipolar probands and 67 first-degree relatives were interviewed using the modified Diagnostic Interview for Genetic Studies (DIGS) and Family Interview for Genetic Studies (FIGS). Data was also collated from other sources. Blood samples were taken for DNA genomic analysis. RESULTS: New Zealand families in which BPD segregates proved willing participants in this familial based genetic research. The methodologies used were acceptable. High rates of comorbidity were found in probands (27.3% met DSM-IV criteria for panic disorder/sub-threshold panic disorder; 12.7% for phobic disorder; 1.8% for obsessive-compulsive disorder; 9.1% for alcohol-related disorders and 7.3% for an eating disorder) and relatives (major depression 34.3%; panic disorder/sub-threshold panic disorder 12.0%; phobias 11.9% and alcohol-related disorders 11.9%). The polarity of index BPD illness was related to age of onset and frequency of comorbidity. Suicidal behaviour was common. CONCLUSIONS: Psychiatric genetic research in New Zealand families is highly feasible. Emerging trends in the familial transmission of BPD include high rates of comorbidity, illness patterns based on polarity of index episode and frequent suicidal behaviour. Such trends will be delineated further as numbers accrue, perhaps enabling identification of more homogenous phenotypic subgroups than currently produced by diagnostic schemes.

Adolescent↗
PubMed2001

Clinical characteristics of familial B-CLL in the National Cancer Institute Familial Registry.

In an ongoing study, families with two or more living cases of B-CLL in first-degree relatives have been recruited through physician and self-referral. Since 1967, 28 kindreds with 73 cases of B-CLL have been enrolled within the National Cancer Institute (NCI) Familial B-CLL Registry. Medical, clinical, and demographic information have been obtained from private physicians, patient interview, hospital records, and death certificates. We used SEER Registry data to compare characteristics of sporadic B-CLL to familial B-CLL. The mean age at diagnosis was approximately 10 years younger among familial cases (57.9 +/- 12.1) than that observed in sporadic cases (70.1 +/- 11.9). A higher percentage of second primary tumors among familial CLL cases compared to reports in sporadic was also observed (16% vs. 8.8%). However, the transformation rate to non-Hodgkin's lymphoma does not appear to be different from that reported for sporadic cases. In conclusion, we observed some differences between familial and sporadic cases; whether any of these characteristics affect survival time or severity of disease is unknown. The study of families with multiple B-CLL cases will aid in delineating the genes and environmental factors that may play a role in the development of both forms of B-CLL.

Age of Onset↗
PubMedDate not supplied

[Family models and mental anorexia. Part I. Patterns in patient's family origin].

The paper presents family models which associate the development of anorexia nervosa with the specific functioning of the patient's family of origin. The described conceptions are based on systems theory which assumes circular conception of family relations. This allows for avoiding one-sidedness of approach, i.e. perceiving a patient as a victim of the family system. In fact, these models emphasize the patient's part in the specific "game" taking place within the family. The conceptions indicate a number of characteristic patterns of relations between the patient's parents as a married couple as well as between the patient and her parents, which, in the period of adolescence become the source of a crisis that assumes the form of anorexia nervosa. The presented approach, focussed on an analysis of family relations, does not question the importance of other aetiological factors. It only points out that the dynamics of mutual relations within a family is an important mechanism influencing the development of the patient's identification and her psychosexual role as well as the course of the separation/individuation process. These aspects seem pivotal for understanding and treatment of anorexia nervosa.

Anorexia Nervosa↗
PubMedDate not supplied

Familial resemblance for coronary heart disease risk: the HERITAGE Family Study.

The objective of this study was to quantify familial resemblance for coronary heart disease risk in 260 Black and 427 White participants in the HERITAGE Family Study. Coronary heart disease risk was estimated using a coronary heart disease risk index (CHDRI) computed from the revised Framingham Heart Study algorithm, based on age, LDL-cholesterol, HDL-cholesterol, blood pressure, diabetes, and smoking status. Using a familial correlation model to test hypotheses regarding familial aggregation, significant familial resemblance was detected in both Blacks and Whites. There were significant sibling correlations in both Blacks and Whites, while spouse correlations were significant only in the White sample. The maximal heritabilities, which have to be interpreted cautiously in light of negligible parent-offspring correlations, were 34% and 53% in Whites and Blacks, respectively. Thus, the maximal heritability, which includes both genetic and non-genetic sources of variation, is higher in Blacks than Whites, and explains a significant proportion of the total phenotypic variance. The results indicate that risk of coronary heart disease runs along family lines, and common environmental effects are important in explaining the observed familial resemblance.

Adult↗
PubMed2000

[Linkage of familial combined hyperlipidemia to chromosome 1q21-23 in Chinese and German families].

OBJECTIVE: To examine familial combined hyperlipidemia (FCHL) families from nonisolated regions in China and Germany to see if we could corroborate support for a chromosome 1q FCHL locus in more general populations. METHODS: We recruited 24 German families with 133 members and 12 Chinese families with a total of 81 members in China. The markers ApoA2, D1S1677, D1S104, and D1S194 were examined by multipoint linkage analysis. RESULTS: Multipoint linkage analysis allowing for heterogeneity gave a maximum LOD score (HLOD) of 1.97 right over D1S194, estimating the proportion of linked families at 17%. This marker was adjacent to D1S104. The evidence for linkage was roughly the same both in the German (13%, HLOD(D1S194) = 1.08) and Chinese families (proportion of linked families 26%, HLOD(D1S194) = 0.97). CONCLUSION: In the light of the relatively small numbers and the heterogeneity our populations represent, we interpret our observations as encouraging support for the recent findings indicating the presence of linkage for FCHL on chromosome 1q21-23.

Apolipoprotein A-II↗
PubMed2004

[Preliminary linkage analysis of a Chinese family with benign familial infantile convulsion].

OBJECTIVE: Benign familial infantile convulsions (BFIC) is a recently recognized autosomal dominant inherited disorder. This epileptic syndrome typically begins between 3 and 12 months of age with clusters of partial seizures in most cases and carries a good prognosis. So far, three loci have been linked to chromosome 19q12.1-13.1, chromosome 2q24 and chromosome 16p12-q12. The authors performed linkage analysis on this pedigree. METHODS: A four-generation Chinese family was investigated. The total number of members was 32 in this family and two neurologists in Xiangya Hospital gave systemic physical examinations and interictal neurological examinations to nineteen members of this family. Venous blood samples were taken for genetic analysis. DNA was extracted from peripheral blood leukocytes using phenol-chloroform method. Seventeen microsatellite markers spanning the critical regions on chromosomes 19q12-13.1, 2q24, and 16p12-q12 were genotyped. These markers included D19S49, D19S250, D19S414, D19S416 and D19S245 for the 19q region, D2S2380, D2S399, D2S111, D2S2195, D2S2330 and D2S2345 for the 2q region, D16S401, D16S3131, D16S3093, D16S517, D16S3120 and D16S415 for the 16p-q region. The DNA from each sample was amplified for the 17 markers. After polymerase chain reactions (PCR), PCR products of chromosome 19 with markers D19S49, D19S250, D19S414, D19S416 and D19S245 were subjected to electrophoresis on 8% denatured polyacrylamide gel for at least 2 hours and 20 minutes. Then the length of the PCR products was judged in the Strategene Eagle Eye II automated gel image analyzer. For the markers from chromosome 2 and 16, PCR products were scanned at ABI 377 autosequencer. The data of PCR products were analyzed using the software Genescan v3.1, Genetyper v2.1 (Applied Biosystem, CA. USA) and GenoDB v1.0. After Mendelian checking, the eligible genotyping data were used for linkage analysis. LOD scores were calculated by using MLINK program of LINKAGE v5.1, under an assumption of autosomal dominant inheritance and the estimated penetrance was 0.9. The allele frequencies of each marker were assumed to be equal and the disease-allele frequencies were designated to be 1/10,000. The LOD scores were calculated at combination rate (theta) 0.0, 0.1, 0.2, 0.3, and 0.4. RESULTS: Among the 17 selected microsatellite markers, which cover the previously reported regions, seven markers' data (D16S3131, D16S517, D16S3120, D16S3093, D2S2380, D19S250 and D19S414) were omitted due to failed genotyping, low genetic heterogeneity, or failure to pass Mendelian checking. Omission of these markers was to ensure the reliability of our raw data. The two-point LOD scores were below zero for all the markers and the maximum LOD scores at theta = 0.0 were less than -2 for markers D19S49, D19S416, D19S245, D16S401, D16S415, D2S399, D2S111, D2S2195, D2S2330 and D2S2345. Thus, the linkage result showed no evidence that the disease locus is linked to any of these selected markers, which excludes the previously reported candidate regions found in other ethnic families. CONCLUSION: There is no evidence that this Chinese family was linked to one of the following loci: 19q12.1-13.1, 16p12-q12 and 2q24. The results indicated that BFIC showed genetic heterogeneity and the Chinese BFIC families might be mapped on another new locus.

China↗
PubMed1992

[Familial cavernous angioma of the central nervous system--report of a family and review of literature].

In this paper we reported a familially occurred cavernous angiomas (CA) of the central nervous system (CNS). Case 1 was a 14-year-old female with an initial symptom of transient motor and sensory disorders of the right upper extremity. On examination she had a cutaneous angioma and no neurological deficit. CT and MRI revealed two lesions in the brain. These lesions were removed surgically and were diagnosed histologically as CA. Case 2 was a 45-year-old female, the mother of case 1, with a long standing headache. She had a cutaneous angioma and no neurological deficit. CT and MRI revealed a CA in the brain and a one in the cervical cord. Case 3 was an 11-year-old female, the cousin of case 1, with an initial symptom of left hemiparesis. On examination, she had a cutaneous angioma and left hemiparesis. CT revealed two lesions in the brain. These lesions were removed surgically and were diagnosed histologically as CA. Familial CA of the CNS is relatively rare and the reported cases were 24 families consisted of 70 cases. We analyzed the reported cases to clarify the specificities of the familial cases. In the familial cases, CAs were apt to be multiple and were located more frequently in the posterior fossa than in the non-familial cases. In some familial cases, the vascular anomalies of the CNS other than CA or CA of the skin or retina were also revealed. Because of high incidence (89%) of the hemorrhage from the histologically verified CA, operation should be carried out even in the cases of CA with mild or no symptom, if the lesion is accessible surgically.

Adolescent↗
PubMed2005

Caregiver burden, family treatment approaches and service use in families of patients with schizophrenia.

Over the last several decades the construct of family burden has been used to capture family members' experience of caring for a mentally ill relative. The definitions and operationalization of this experience into subjective and objective components neglects the complexity and the multidimensional nature of the caregiving experience. In addition to problems operationalizing the caregiving experience, family interventions have also neglected to address the range of issues and concerns that impact those caring for mentally ill relatives. These two factors may be significant contributors to the under utilization of family-based services by relatives of individuals with schizophrenia. Two examples of treatment programs that target the multidimensional nature of the caregiving experience (NAMI's Family-to-Family and Journey of Hope), possible integration of these programs with family psychoeducation interventions and implications for service utilization are discussed.

Caregivers↗
PubMed2005

Biomonitoring for farm families in the farm family exposure study.

OBJECTIVES: The Farm Family Exposure Study was conducted to evaluate real-world pesticide exposure for farmers, spouses, and children. METHODS: Eligible farm families from Minnesota and South Carolina were randomly selected from a roster of licensed private pesticide applicators. Eligibility required that the family include a farmer, spouse, and at least one child between the ages of 4 and 17 years, that the family live on the farm, that the farmer planned to apply one of the target pesticides [glyphosate, chlorpyrifos, 2,4-dichlorophenoxy acetic acid (2,4-D)] to at least 10 acres (4.1 hectares) of land within 1 mile (1.6 kilometers) of the house. For each family member, geometric means were calculated for 24-hour composite urinary samples, with a 1 ppb (part per billion) limit of detection, the day before, the day of, and for 3 days after the application. RESULTS: For the farmers, the peak geometric mean concentrations were 3 ppb for glyphosate, 64 ppb for 2,4-D, and 19 ppb for the primary chlorpyrifos metabolite. For the spouses and children, the percentage with detectable values varied by chemical, although the average values for each chemical did not vary during the study period. The applicators had the highest urine pesticide concentrations, children had much lower values, and spouses had the lowest values. Exposure to family members was largely, though not exclusively, determined by the degree of direct contact with the application process. The exposure profile varied for the three chemicals for each family member. CONCLUSIONS: The data of this study indicate the importance of chemical-specific considerations when exposure assessments are planned in epidemiologic studies.

Environmental Exposure↗
PubMed2006

Research participation, protected time, and research output by family physicians in family medicine residencies.

BACKGROUND AND OBJECTIVES: The Future of Family Medicine project concluded that research must become a greater part of the culture of the specialty. We examined the participation of family physician residency faculty in research, their protected time, and their research output and how these varied by program type. METHODS: This was a cross-sectional survey of all family medicine residency programs in the United States. The response rate was 66% (298/453). RESULTS: The majority of programs reported at least one family physician who participates in research, though the medical school-based (MSB) programs reported a higher total number of faculty than the community-based, medical school affiliated (MSA) programs (9.53 versus 2.72) and percentage of faculty (56% versus 37%). Substantially more MSB programs reported that they had at least one family physician with significant protected time for research (48% versus 7% for > 25% protected time) or any protected time (69% for MSB versus 45% for MSA). MSB programs and MSA programs reported similar success at producing at least one poster or paper for national meetings within the last 3 years (63% versus 41%) but not for published papers (86% versus 43%). CONCLUSIONS: We found that only about half of the family medicine residencies produced any nationally recognized research over a 3-year period and that this represents only a small improvement over the last 10 years. Our findings suggest that more support is needed if research is to become an integral part of the culture of family medicine.

Cross-Sectional Studies↗
PubMedDate not supplied

Predicting self-care with patients and family members' affective states and family functioning.

People with cancer manage the side effects of treatment with the assistance of their family members. This study was designed to describe self-care behaviors (SCBs) initiated by patients and their family members and to determine the relationship between patients and family members' affective states and family functioning and SCBs. Using a longitudinal design, 42 patients and 40 family members were followed during 3 cycles of chemotherapy (12-16 weeks). The patients completed measures of affective state (POMS) each cycle; patients and family members completed a family functioning measure (F-COPES) at second cycle only; and the patients reported in an SCB log on an ongoing basis. The overall pattern of SCBs corroborated previous findings. The average number of SCBs initiated was 1.4 per side effect. Depression and vigor significantly predicted SCBs at Cycle 1 only. The severity of side effects consistently predicted SCB over the 3 cycles (r 2 = -0.39 to -0.46). Patients who experienced more severe side effects were at risk of diminished self-care.

Adaptation, Psychological↗
PubMed1990

Evaluations of family by youth: do they vary as a function of family structure, gender, and birth order?

In the present study, 334 youths evaluated their families by responding to the Personal Attribute Inventory for Children. An analysis of variance revealed no significant main effects due to respondents' birth order or gender, but did find a significant main effect due to family structure and a significant two-way interaction effect between respondents' family structure and gender. Specifically, males from divorced remarried families and females from divorced nonremarried families were found to evaluate their respective families significantly more negatively than did their counterparts from other familial configurations. Implications of these findings are discussed.

Adolescent↗
PubMed1989

VH gene family repertoire of resting B cells. Preferential use of D-proximal families early in development may be due to distinct B cell subsets.

The fetal VH gene repertoire was shown previously to be characterized by overrepresentation of D-proximal families, VH 7183 and VH Q52, compared with adult bone marrow B cells in which VH genes were expressed in a more stochastic fashion. To determine the underlying mechanisms of these findings, adult vs fetal progenitors were placed in the same supportive microenvironment and the resulting B lineage cells analyzed for VH gene family expression. The supportive microenvironment was provided by established adult bone marrow stromal cell layers. In this way the relative importance of environmental vs genetic influences could be determined. The fetal B cells and pre-B cells that developed on adult stromal cells maintained a fetal-like VH gene family repertoire with preference for D-proximal families VH 7183 and Q52. In contrast, adult cultured B cells maintained the adult-like repertoire with predominance of the largest family VH J558. Only after long-term incubation was there a change in the expression of particular VH gene families. These findings suggest that the D-proximal VH gene family preference observed early in ontogeny is associated more with the inherent genetic potential of B cell progenitors that predominate during fetal life and less with environmental influences.

Aging↗
PubMed1988

Taxonomy of family life styles: III. Replication with families with severely mentally retarded children.

The home environment and behavior of 97 families with severely mentally retarded children was examined in order to determine the presence of family types. Cluster analysis was performed on 16 measures of proximal home environment. Five unique family clusters were identified: cohesive, control-oriented, responsive-to-child, moral-religious-oriented, nonachievement-oriented, and achievement-oriented. Comparison among the clusters on other family and child characteristics and behaviors revealed significant differences. The family types identified in this study were similar to previously determined family types. These findings appear to support the establishment of a standard classification of families.

Adolescent↗
PubMed1988

Surgeon and family physician opinions of the general surgical needs of family practice residents: a pilot study.

There is a lack of data assessing needs and evaluating educational objectives in general surgery for family practice residents. Studies suggest that family practice residency graduates feel underprepared in some surgical areas. This study provides results of a survey of 28 surgeons, practicing family physicians and family practice residents in the Northeast regarding the importance of 166 surgical objectives. The groups are compared to each other to detect differences in perceptions about what family practice residents should be taught in general surgery. Surgeons attached significantly less importance to nine of 21 general categories of learning objectives (e.g. emergency skills) than did practicing family physicians or family practice residents. No differences in ratings of surgical objectives were observed for 12 of 21 general categories.

Clinical Competence↗
PubMed1987

Recurrent depression: an assessment of family burden and family attitudes.

Recognition that a psychiatrically ill family member has profound effects on family life and significant others has stimulated the need for more precise assessments of family members. The authors evaluated the burden experienced by those in the immediate environment of an individual with recurrent depressive illness as well as the beliefs they hold about the illness. This report presents a preliminary body of data on the level and types of distress shared by family members, especially family members living with the patient. Such information is valuable in designing educational interventions for family members in order to explore their attitudes and belief systems about depressive illness, to decrease the impact of family and other relationship stress on the patient, and to enhance the significant others' support of the patient.

Attitude to Health↗
PubMed1980

Family emotional health: a survey of family practice patients.

As a step toward defining psychosocial areas in which resident training in family medicine is needed, this study assessed the concerns patients had about the emotional health of their families. A questionnaire was developed to survey the patient concerns (ie, worries or perceived problems) for the developmental, psychological, and social functioning of their families. Patients in three family practice settings were administered the questionnaire while waiting for their appointments. Sixty-four percent of the patients perceived one or more areas of concern in their families. Close to half (48.9 percent) had concerns about themselves. Concerns about the emotional well-being of spouses were identified by 39.5 percent of those having spouses, and for children, 38.2 percent of those having children. Also, 39.7 percent expressed concern about their parents' emotional health. Further, while only 3.5 percent of the patients were given a psychiatric diagnosis, 26.5 percent of the charts contained notes revealing psychosocial problems at some patient visit. The results point to a major need for family physicians to develop skills in child, adult, and family evaluation of psychosocial functioning.

Adult↗
PubMed1994

Relationships between stress, coping resources, and satisfaction with family functioning in families of children with disabilities.

The purpose of the current descriptive correlational study was to examine relations between stress, coping resources, and satisfaction with family functioning in families caring for children with developmental disabilities at home. Fifty families who used the services of a respite care program were surveyed to examine relationships among child characteristics (behavioral problems and handicapping conditions); coping resources including mastery and health, esteem and communication, family hardiness, and social support; and the primary outcome variable of satisfaction with family functioning. Families of children with developmental disabilities experience significant stressors in terms of the severity of their child's handicapping conditions and behaviour problems. However, they reported satisfactory coping resources such as mastery and health, hardiness, and esteem and communication. Although they were lower than normative scores, social support scores for spouses and friends were related to satisfaction with family functioning. Implications for practitioners are discussed.

Adaptation, Psychological↗