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Histopathology of familial ovarian tumors in women from families with and without germline BRCA1 mutations.

Breast cancers from patients with germline BRCA1 mutations show characteristic histopathologic features. However, similar studies of BRCA1-associated ovarian cancers have reported inconsistent findings. Interobserver differences in histopathologic classification are a significant source of variation, and most studies have obtained histopathologic information from pathology reports rather than from review of histopathology slides. We therefore reviewed the histopathology slides and pathology reports to determine histologic type, grade, and stage for cancers of the ovary or peritoneum in 217 women from 126 families enrolled in the Gilda Radner Familial Ovarian Cancer Registry. Peripheral blood DNA from at least 1 affected member of each family was analyzed for BRCA1 mutations, and tumors from BRCA1 mutation-positive families were compared with those from BRCA1-negative families. Of 66 patients from 36 BRCA1-positive families, 64 had ovarian carcinoma, 1 had an ovarian carcinoma in situ, and 1 had a dysgerminoma. Of 151 patients from 90 BRCA1-negative families, 135 had ovarian carcinoma, 10 had ovarian borderline tumors, 3 had ovarian sex cord/stromal tumors, and 3 had primary peritoneal carcinoma. There were fewer grade 1 (P <.001) and stage I (P =.10) cancers in patients from BRCA1-positive families than in patients from BRCA1-negative families. Neither mucinous nor borderline tumors were found in the BRCA1-positive families. Ovarian cancers arising in women from BRCA1-positive families are more likely to be high grade and nonmucinous than cancers arising in women from BRCA1-negative families. The absence of borderline tumors in patients from BRCA1-positive families adds to accumulating evidence that BRCA1 mutations do not play a role in the development of these tumors. HUM PATHOL 31:1420-1424.

Breast Neoplasms↗

Family physicians' involvement with dying patients and their families. Attitudes, difficulties, and strategies.

OBJECTIVE: To determine family physicians' perceptions of the difficulty in caring for dying patients and how prepared they are to provide such care relative to strategies used with difficulties encountered, personal need for support and development, and cooperation with other caregivers. DESIGN: Exploratory. SETTING: Physicians' offices. SUBJECTS: Thirty-five randomly selected family physicians (doctors of medicine and doctors of osteopathy) representative of family physicians practicing in Franklin County, Ohio. INTERVENTIONS: None. MAJOR OUTCOME MEASURES: A semistructured interview guide corresponding to a three-dimensional theoretical model developed prior to the study was used to determine family physicians' perceptions regarding care of dying patients and their families. The three dimensions include family physicians' involvement with dying patients and their families, their personal needs and development, and their cooperation with other caregivers. RESULTS: Participants agreed that the care of dying patients and their families is an important and special component of practicing family medicine. Generally seeing themselves as adequately prepared, they still found such care difficult and desired more education and training to increase comfort of their patients and of themselves. Their perceptions regarding the care of dying patients and their families could be categorized in terms of communication as part of the care process, family issues, legal and ethical issues, coordination of care, physicians' feelings, and physicians' influence and support. CONCLUSIONS: Family physicians require formal training in death issues and need to find a way to maximize learning through personal experiences. Discussion of cases in a support group may be beneficial.

Attitude to Death↗

Family issues in child anxiety: attachment, family functioning, parental rearing and beliefs.

Family studies have found a large overlap between anxiety disorders in family members. In addition to genetic heritability, a range of family factors may also be involved in the intergenerational transmission of anxiety. Evidence for a relationship between family factors and childhood as well as parental anxiety is reviewed. Four groups of family variables are considered: (I) attachment; (II), aspects of family functioning, such as marital conflict, co-parenting, functioning of the family as a whole, and sibling relationships; (III) parental rearing strategies; and (IV) beliefs that parents hold about their child. The reviewed literature provides evidence for an association between each of these family factors and child anxiety. However, there is little evidence as yet that identified family factors are specific to child anxiety, rather than to child psychopathology in general. Moreover, evidence for a relationship between child anxiety and family factors is predominantly cross-sectional. Therefore, whether the identified family factors cause childhood anxiety still needs to be investigated. Further research that investigates mechanisms mediating the relationship between family factors and child anxiety is also called for. Finally, parental beliefs are identified as important predictors of parental behaviour that have largely not been investigated in relation to child anxiety disorders.

Adolescent↗

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Mutations causing familial hypertrophic cardiomyopathy (HCM) have been described in at least 11 genes encoding cardiac sarcomeric proteins. In this study, three previously unknown deletions have been identified in the human cardiac genes coding for beta-myosin heavy chain (MYH7 on chromosome 14) and myosin-binding protein-C (MYBPC3 on chromosome 11). In family MM, a 3-bp deletion in MYH7 was detected to be associated with loss of glutamic acid in position 927 (DeltaE927) of the myosin rod. In two other families (HH and NP, related by a common founder) a 2-bp loss in codon 453 (exon 16) of MYBPC3 was identified as the presumable cause of a translation reading frame shift. Taken together 15 living mutation carriers were investigated. Six deceased family members (with five cases of premature sudden cardiac death (SCD) in families MM and NP) were either obligate or suspected mutation carriers. In addition to these mutations a 25-bp deletion in intron 32 of MYBPC3 was identified in family MM (five carriers) and in a fourth family (MiR, one HCM patient, three deletion carriers). In agreement with the loss of the regular splicing branch point in the altered intron 32, a splicing deficiency was observed in an exon trapping experiment using MYBPC3 exon 33 as a test substrate. Varying disease profiles assessed using standard clinical, ECG and echocardiographic procedures in conjunction with mutation analysis led to the following conclusions: (1) In family MM the DeltaE927 deletion in MYH7 was assumed to be associated with complete penetrance. Two cases of reported SCD might have been related to this mutation. (2) The two families, HH and NP, distantly related by a common founder, and both suffering from a 2-bp deletion in exon 16 of MYBPC3 differed in their average phenotypes. In family NP, four cases of cardiac death were documented, whereas no cardiac-related death was reported from family HH. These results support the notion that mutations in HCM genes may directly determine disease penetrance and severity; however, a contribution of additional, unidentified factors (genes) to the HCM phenotype can-at least in some cases-not be excluded. (3) The deletion in intron 32 of MYBPC3 was seen in two families, but in both its relation to disease was not unequivocal. In addition, this deletion was observed in 16 of 229 unrelated healthy individuals of the population of the South Indian states of Kerala and Tamil Nadu. It was not seen in 270 Caucasians from Russia and western Europe. Hence, it is considered to represent a regional genetic polymorphism restricted to southern India. The association of the deletion with altered splicing in transfected cells suggests that this deletion may create a "modifying gene", which is per se not or only rarely causing HCM, but which may enhance the phenotype of a mutation responsible for disease.

Adolescent↗

Hospitalized elders and family caregivers: a typology of family worry.

OBJECTIVE: This qualitative study explored the kinds of worry that family caregivers experience when their older relatives are hospitalized. BACKGROUND: Little is known about what kinds of worries family caregivers may have in association with the hospitalizations of older relatives. An understanding of the different patterns of family worry may help health care teams intervene more effectively to meet family caregiver's needs by reducing their anxiety. DESIGN: A qualitative descriptive design with Loftland and Loftland (1984) approach for the study of a phenomenon occurring in a social setting was used. METHOD: A purposeful sample of 10 participants was obtained that included six family caregivers and four nurses. Participants were recruited from two hospitals in the northwest US. Intensive interviews and participant observations were used for data collection, and Loftland and Loftland's (1984) qualitative approach was used for data analysis. RESULTS: Family worry was defined as family caregivers' felt difficulty in fulfilling their roles because of worry. Four categories of family worry were identified as a result of this study: (i) worry about the patient's condition; (ii) worry about the patient's care received from the health care team; (iii) worry about future care for the patient provided by the family caregiver; and (iv) worry about finances. CONCLUSIONS: The findings of this pilot study provide nurses with the initial knowledge of the typology of family worry associated with elderly relatives' hospitalizations. RELEVANCE TO CLINICAL PRACTICE: The findings of this study may sensitize the nurses to more precisely evaluate family caregivers' worry about their hospitalized elders and provide more effective nursing interventions to improve outcomes of both patients and their family caregivers.

Adaptation, Psychological↗

The family's conception of accountability and competence: a new approach to the conceptualization and assessment of family stress.

Clinicians and researchers have a strong interest in understanding how families respond to stress. Often, they begin their analyses by attempts to estimate the seriousness or magnitude of the stressful events impinging on the families they observe. Until now, they have relied on two strategies. First, they attempt to develop objective or external indicators of the magnitude of the stress of the events. The problem here is that the family's own perceptions and experiences are not properly weighted. The second strategy depends heavily or exclusively on the family's perceptions of the events. However, these perceptions are often a product of the family's efforts to cope with the stress since the organization and perception of meaning in events is a fundamental part of family coping. Thus, this approach cannot disentangle the stress inherent in the events from the family's efforts to cope with it. This article explores a third alternative. The social community in which the family lives often provides a coherent frame of meanings for most events. It not only defines the magnitude of the event but it also defines how accountable the family is for producing the event in the first place. A method for assessing these community frameworks is presented. Initial results suggest that there is not only a coherent community framework attributing magnitude and family accountability to a large number of stressful events impinging the family but, also, that these community attributions are embedded in a community concept of family development.

Attitude to Health↗

Family Management Style Framework: a new tool with potential to assess families who have children with brain tumors.

Qualitative studies of families with children who have cancer or other serious illnesses have found that families often come to view their child and their lives as normal. They manage illness-related demands using family management styles that sustain usual patterns of family and child functioning. Few studies have addressed the family management styles of families who express less satisfaction with family and child functioning or who are identified by health care professionals as having difficulty with family functioning. Such families are likely to be overrepresented among those whose children are being treated for brain tumors that entail extremely burdensome treatments as well as a range of unfavorable prognoses and long-term sequelae. In fact, little is known about how these families manage on a day-to-day basis and how the interdisciplinary team can best provide supportive care to optimize their functioning. The purpose of this article is to present the Family Management Styles Framework as a tool that is useful in both clinical practice and research for assessing families who have children with cancer, including those with brain tumors.

Adaptation, Psychological↗

Out of the picture: a study of family drawings by children from step-, single-parent, and non-step families.

Investigated the family drawings of 180 children ages 5 to 7 years in various family settings, including stepfather, single-parent, complex stepfamilies, and 2-parent control families. The relations of family type and biological relatedness to omission of family members and grouping of parents were examined. Children from step- and single-parent families were more likely to exclude family members than children from "control" non-step families, and exclusion was predicted from biological relatedness. Children who were biologically related to both resident parents were also more likely to group their parents together. Omission of family members was found to be associated with children's adjustment (specifically more externalizing and internalizing behavior) as reported by teachers and parents. The results indicate that biological relatedness is a salient aspect of very young children's representations of their families. The association between adjustment and exclusion of family members and grouping of parents indicates that family drawings may be useful research and clinical tools, when used in combination with other methods of assessment.

Affective Symptoms↗

The effect of multiple family therapy on addict family functioning: a pilot study.

Family therapy may help addicts remain drug abstinent by improving family functioning. In a outpatient pilot study eight addict families were evaluated before and after 16 weeks of multiple family therapy (MFT), while the addict was maintained on naltrexone, an opiate antagonist. The Beavers Timberlawn Family Assessment was used to rate videotapes on problem solving, family structure, individual autonomy, and affect. The 8 families showed significant improvement in global functioning, problem solving, structure, and autonomy, but not in affect. One addict relapsed during the 10 month follow up, and his was the only family that functioned worse at follow up. We concluded that MFT can help addict families progress from chaotic interactions to more stable family structures and from rigid to more flexible family functioning. This improvement in family functioning may be associated with ex-addicts remaining abstinent.

Adult↗

Correlates of family competence in families with paternal alcohol abuse.

The present study explored factors correlated with family competence in families with paternal alcohol abuse (N = 20). Family competence is measured by the Family Competence Scale in the Beavers Systems Model of Family Functioning. Based on a review of the literature, socioeconomic status, parents' psychological symptoms, and drinking behaviour were selected as possible correlates of family competence. The findings indicated that family competence was correlated with both parents' reports of psychological symptoms as measured by SCL-90. The strongest correlate of family competence was, however, the socioeconomic status of the family. The only aspect of drinking behaviour significantly correlated with family competence was severity of the fathers' alcohol abuse. These results indicate the importance of including individual factors, family factors, and socioeconomic measures in the assessment of families with paternal alcohol abuse.

Adult↗

Family health in everyday life: a qualitative study on well-being in families with children.

This article describes the subjective health views of young Finnish families with children. The data were collected in unstructured focused interviews with 19 families, most of whom were interviewed twice. Set within a phenomenological-hermeneutic framework, the study applies a qualitative method in order to uncover the meanings attached by the families to different facets of their everyday life. Health is an integral part of the everyday life of families with children, comprising various dimensions of experienced well-being and unwell-being, security and different life-habits. Social networks are crucial to family health: they can either strengthen or undermine experienced health. Professionals working with families in the health care system need to have at least a basic knowledge of the different dimensions of family health: this helps to identify and understand the individual ways in which families work to promote their health and well-being. This knowledge of family health is also important for research purposes. Health care professionals also need to know more about how families cope with their everyday problems and about how client families can be supported. More research is needed on the concepts of family health and on how those concepts are applied to practice in different health care sectors and in education.

Adaptation, Psychological↗

The child's predicament in families with a mood disorder. Research findings and family interventions.

A family psychiatry approach to mood disorders brings together genetic and family history studies with epidemiologic patterns of individuals at risk to understand the child's predicament. Strands from different areas of research are woven together to argue for the powerful impact of family environment on the developing child. In response to an acute mood episode, family functioning is globally disturbed but may resolve. Family therapy is helpful during the mood episode for both crisis resolution and prevention. Unresolved problems may induce relapse. Dysfunctional family interaction patterns include rigidity, polarizations, and using the child as a go-between. The child's predicament is a cascade of risk factors including exposure to the ill parent, consequences of the illness on family relationships, and the impact on the child's coping capacities. Two common child response patterns are the child who acts as regulator of the family system and the child who opts out of the family. Clinical interventions, adapted to working with mood-disordered families, are illustrated through case vignettes. The need for a broad-based approach is stressed, in which family therapy is part of a package that includes hospitalization, psychopharmacology, and family education.

Adult↗

Child in hospital: family experiences and expectations of how nurses can promote family health.

AIMS AND OBJECTIVES: This study set out to explore, from the family's point of view, ways in which nursing staff can promote family health during the child's hospital stay. BACKGROUND: Having a child in hospital is a major source of stress and anxiety for the whole family. Earlier studies have described parental coping strategies, ways to strengthen those strategies and to support parental participation in child care, but no one has studied the promotion of family health during the child's hospitalization from the family's point of view. DESIGN: Interviews were conducted in 2002 with 29 families who had a child with a chronic illness which were receiving or had received treatment on the paediatric wards of two Finnish hospitals. METHODS: Data analysis was based on the grounded theory method, proceeding to the stage of axial coding. Data collection and analysis phases proceeded simultaneously. RESULTS: Five domains were distinguished in the promotion of family health: (1) reinforcing parenthood, (2) looking after the child's welfare, (3) sharing the emotional burden, (4) supporting everyday coping and (5) creating a confidential care relationship. CONCLUSIONS: The results strengthen the knowledge base of family nursing by showing how nursing staff can promote family health during the child's hospital stay. RELEVANCE TO CLINICAL PRACTICE: The results have a number of practical applications for nursing, both for clinical practice and research. The results can be used in paediatric hospital wards caring for chronically ill children and their families. The five domains of family health promotion described here should be tested in other paediatric wards and in other geographical locations.

Adaptation, Psychological↗