Mental Wellbeing of Family Members of Autistic Adults.

Science.gov (United States)

Herrema, Renske; Garland, Deborah; Osborne, Malcolm; Freeston, Mark; Honey, Emma; Rodgers, Jacqui

2017-11-01

Family members are often the primary caregiver for autistic adults and this responsibility may impact on the carer's wellbeing and quality of life. 109 family members of autistic adults completed an online survey assessing their wellbeing relating to their caring role for their autistic relative. Family members who were supporting an autistic relative with co-occurring mental health difficulties and who they reported as unprepared for the future, self-reported higher levels of worry, depression, anxiety and stress, and poorer quality of life. These findings emphasise the importance of support for family members of autistic adults, whether through external services to support their relative or individual mental health support for the carer.

Expanding access to naloxone for family members: The Massachusetts experience.

Science.gov (United States)

Bagley, Sarah M; Forman, Leah S; Ruiz, Sarah; Cranston, Kevin; Walley, Alexander Y

2018-05-01

The Massachusetts Department of Public Health Overdose Education and Naloxone Distribution Program provides overdose education and naloxone rescue kits to people at risk for overdose and bystanders, including family members. Using Massachusetts Department of Public Health data, the aims are to: (i) describe characteristics of family members who receive naloxone; (ii) identify where family members obtain naloxone; and (iii) describe characteristics of rescues by family members. We conducted a retrospective review using program enrollee information collected on a standardised form between 2008 and 2015. We calculated descriptive statistics, including demographics, current substance use, enrolment location, history of witnessed overdoses and rescue attempt characteristics. We conducted a stratified analysis comparing family members who used drugs with those who did not. Family members were 27% of total program enrollees (n = 10 883/40 801). Family members who reported substance use (n = 4679) were 35.6 years (mean), 50.6% female, 76.3% non-Hispanic white, 75.6% had witnessed an overdose, and they obtained naloxone most frequently at HIV prevention programs. Family members who did not report substance use (n = 6148) were 49.2 years (mean), 73.8% female, 87.9% non-Hispanic white, 35.3% had witnessed an overdose, and they obtained naloxone most frequently at community meetings. Family members were responsible for 20% (n = 860/4373) of the total rescue attempts. The Massachusetts experience demonstrates that family members can be active participants in responding to the overdose epidemic by rescuing family members and others. Targeted intervention strategies for families should be included in efforts to expand overdose education and naloxone in Massachusetts. © 2017 Australasian Professional Society on Alcohol and other Drugs.

Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families.

Science.gov (United States)

Arteaga-Vázquez, Jazmín; López-Hernández, María A; Svyryd, Yevgeniya; Mutchinick, Osvaldo M

2015-12-01

Androgenetic alopecia (AGA) or common baldness is the most prevalent form of hair loss in males. Familial predisposition has been recognized, and heritability estimated in monozygotic twins suggests an important genetic predisposition. Several studies indicate that the numbers of CAG/GGC repeats in exon 1 of the androgen receptor gene (AR) maybe associated with AGA susceptibility. To investigate a possible correlation between AR CAG/GGC haplotypes and the presence or not of alopecia in sibships with two or more brothers among them at least one of them has AGA. Thirty-two trios including an alopecic man, one brother alopecic or not, and their mother were enrolled. Sanger sequencing of the exon 1 of the AR gene was conducted to ascertain the number of CAG/GGC repeats in each individual. Heterozygous mother for the CAG/GGC haplotypes was an inclusion criterion to analyze the segregation haplotype patterns in the family. Concordance for the number of repeats and AGA among brothers was evaluated using kappa coefficient and the probability of association in the presence of genetic linkage between CAG and GGC repeats and AGA estimated by means of the family-based association test (FBAT). The median for the CAG and GGC repeats in the AR is similar to that reported in other populations. The CAG/GGC haplotypes were less polymorphic than that reported in other studies, especially due to the GGC number of repeats found. Kappa coefficient resulted in a concordance of 37.3% (IC 95%, 5.0-69.0%) for the AGA phenotype and identical CAG/GGC haplotypes. There was no evidence of linkage disequilibrium. Our results do not confirm a possible correlation or linkage disequilibrium between the CAG/GGC haplotypes of the AR gene and androgenetic alopecia in Mexican brothers. © 2015 Wiley Periodicals, Inc.

Unrecognized pediatric and adult family members of children with acute brucellosis.

Science.gov (United States)

Çiftdoğan, Dilek Yılmaz; Aslan, Selda

Brucellosis is an infectious, contagious and zoonotic disease that occurs worldwide. The family members of an index case of brucellosis may be especially susceptible, due to sharing the same source of infection and similar risk factors for brucellosis. In this study, we propose to screen pediatric and adult family members of brucellosis index cases for detecting additional unrecognized infected family members. 114 family members of 41 pediatric patients with brucellosis were evaluated. All family members completed a brief questionnaire and were tested by a standard tube agglutination test (STA). The majority of family members (n=96, 84.2%) were children. Among the 114 family members, 42 (36.8%) were seropositive, and 15 (35.7%) were symptomatic. The majority of the symptomatic seropositive family members (n=12, 80%) had STA titers (≥1:640) higher than asymptomatic seropositive family members (n=9, 33%; p=0.004). The routine screening of both pediatric and adult family members of index cases is a priority in endemic areas. Using this screening approach, unrecognized family members who are seropositive for brucellosis will be identified earlier and be able to receive prompt treatment. Copyright © 2017 Sociedade Brasileira de Infectologia. Published by Elsevier Editora Ltda. All rights reserved.

Understanding type 2 diabetes: including the family member's perspective.

LENUS (Irish Health Repository)

White, Patricia

2012-02-01

PURPOSE: The purpose of this study was to examine the relationship between psychological and social factors and diabetes outcomes in people with type 2 diabetes and their family members. METHODS: A total of 153 patients with type 2 diabetes were assessed at a diabetes outpatient clinic and postal questionnaires were sent to nominated family members. The measures examined were diabetes knowledge, social support, well-being, and illness perceptions. RESULTS: When compared with those with diabetes, family members reported lower positive well-being and lower levels of satisfaction with support. They also perceived diabetes as a more cyclical illness, which was controlled more by treatment than by the individual. Family members also reported that the person with diabetes was more emotionally distressed and knew more about diabetes than the patient had actually reported himself or herself. There were no differences between the family members of those in good or poor glycaemic control. CONCLUSIONS: This study reinforces the importance of understanding social context and illness beliefs in diabetes management. It also highlights the potential for including family members in discussions and education about diabetes management.

Family members' unique perspectives of the family: examining their scope, size, and relations to individual adjustment.

Science.gov (United States)

Jager, Justin; Bornstein, Marc H; Putnick, Diane L; Hendricks, Charlene

2012-06-01

Using the McMaster Family Assessment Device (Epstein, Baldwin, & Bishop, 1983) and incorporating the perspectives of adolescent, mother, and father, this study examined each family member's "unique perspective" or nonshared, idiosyncratic view of the family. We used a modified multitrait-multimethod confirmatory factor analysis that (a) isolated for each family member's 6 reports of family dysfunction the nonshared variance (a combination of variance idiosyncratic to the individual and measurement error) from variance shared by 1 or more family members and (b) extracted common variance across each family member's set of nonshared variances. The sample included 128 families from a U.S. East Coast metropolitan area. Each family member's unique perspective generalized across his or her different reports of family dysfunction and accounted for a sizable proportion of his or her own variance in reports of family dysfunction. In addition, after holding level of dysfunction constant across families and controlling for a family's shared variance (agreement regarding family dysfunction), each family member's unique perspective was associated with his or her own adjustment. Future applications and competing alternatives for what these "unique perspectives" reflect about the family are discussed. PsycINFO Database Record (c) 2012 APA, all rights reserved.

Family Members' Unique Perspectives of the Family: Examining their Scope, Size, and Relations to Individual Adjustment

Science.gov (United States)

Jager, Justin; Bornstein, Marc H.; Diane, L. Putnick; Hendricks, Charlene

2012-01-01

Using the Family Assessment Device (FAD; Epstein, Baldwin, & Bishop, 1983) and incorporating the perspectives of adolescent, mother, and father, this study examined each family member's “unique perspective” or non-shared, idiosyncratic view of the family. To do so we used a modified multitrait-multimethod confirmatory factor analysis that (1) isolated for each family member's six reports of family dysfunction the non-shared variance (a combination of variance idiosyncratic to the individual and measurement error) from variance shared by one or more family members and (2) extracted common variance across each family member's set of non-shared variances. The sample included 128 families from a U.S. East Coast metropolitan area. Each family member's unique perspective generalized across his or her different reports of family dysfunction and accounted for a sizable proportion of his or her own variance in reports of family dysfunction. Additionally, after holding level of dysfunction constant across families and controlling for a family's shared variance (agreement regarding family dysfunction), each family member's unique perspective was associated with his or her own adjustment. Future applications and competing alternatives for what these “unique perspectives” reflect about the family are discussed. PMID:22545933

Posttraumatic stress disorder in women with war missing family members.

Science.gov (United States)

Baraković, Devla; Avdibegović, Esmina; Sinanović, Osman

2014-12-01

Research in crisis areas indicate that survivors' responses to the forced disappearance of family members are similar to reactions to other traumatic events. The aim of this study was to determine the presence of symptoms of posttraumatic stress disorder (PTSD) in women with war missing family members in Bosnia and Herzegovina 18 years after the war in this region (1992-1995). The study included 160 women aged 47.1±14.0 from three regions of Bosnia and Herzegovina. It was carried out in the period from April 2010 to May 2011. Of the 160 participants, 120 women had a war missing family member and 40 women had no war missing family members. The Harvard Trauma Questionnaire (HTQ), the Beck Depression Inventory (BDI) and the Hamilton Anxiety Rating Scale (HAMA) were used for data collection. Basic socio-demographic data and data concerning the missing family members were also collected. Women with war missing family members experienced significantly more traumatic war experiences (18.43±5.27 vs 6.57±4.34, pfamily members. Women with war missing family members showed significantly more severe PTSD symptoms. Based on the results of this study, it was determined that the forced disappearance of a family member is an ambiguous situation that can be characterized as a traumatic experience.

Coping with stigma by association and family burden among family members of people with mental illness.

Science.gov (United States)

van der Sanden, Remko L M; Stutterheim, Sarah E; Pryor, John B; Kok, Gerjo; Bos, Arjan E R

2014-10-01

In this study, we explored stigma by association, family burden, and their impact on the family members of people with mental illness. We also studied the ways in which family members coped with these phenomena. We conducted semistructured interviews with 23 immediate family members of people with mental illness. Participants reported various experiences of stigma by association and family burden. Social exclusion, being blamed, not being taken seriously, time-consuming caregiving activities, and exhaustion appeared to be the predominant forms of stigma by association and family burden experienced by the participants. The participants used problem-focused and emotion-focused coping strategies, separately or simultaneously, to cope with the negative impact of stigma by association and family burden. The results suggest that family members should have access to services to address these problems. Social, instrumental, and emotional support should be given to family members by community members and mental health professionals.

Helping concerned family members of individuals with substance use and concurrent disorders: An evaluation of a family member-oriented treatment program.

Science.gov (United States)

Denomme, William James; Benhanoh, Orry

2017-08-01

There is a growing body of research demonstrating that families of individuals with substance use and concurrent disorders (SUCD) experience a wide range of biopsychosocial problems that significantly impedes their quality of life and health. However, there has been a relative lack of treatment programs primarily focused on improving the well-being and quality of life of these family members. The current study assessed the efficacy of such a program at reducing stress, increasing perceived social support from family and friends, and increasing general, dyadic, and self-rated family functioning within these concerned family members. A sample of 125 family members of individuals with SUCDs was recruited, of which 97 participated in the treatment program and 28 were used as the comparison group. Results indicated that the treatment program significantly reduced stress, increased perceived social support from family and friends, and increased general, dyadic and self-rated family functioning. A perceived personal benefits questionnaire demonstrated that participants had a better understanding of SUCDs, better coping capabilities in regard to emotional difficulties, adopted stronger coping methods, participated in more leisure activities, and improved their relationship with the individual with a SUCD. The results of the current study further demonstrate the need to implement more of these family-member oriented psycho-educational treatment programs. Copyright © 2017 Elsevier Inc. All rights reserved.

Mental health and family relations among people who inject drugs and their family members in Vietnam.

Science.gov (United States)

Li, Li; Tuan, Nguyen Anh; Liang, Li-Jung; Lin, Chunqing; Farmer, Shu C; Flore, Martin

2013-11-01

This article explores the association of people who inject drugs and their family members in terms of mental health and family relations. The objective was to understand the family context and its impact on people who inject drugs in a family-oriented culture in Vietnam. Cross-sectional assessment data were gathered from 83 people who inject drugs and 83 of their family members recruited from four communes in Phú Thọ province, Vietnam. Depressive symptoms and family relations were measured for both people who inject drugs and family members. Internalized shame and drug-using behavior were reported by people who inject drugs, and caregiver burden was reported by family members. We found that higher level of drug using behavior of people who inject drugs was significantly associated with higher depressive symptoms and lower family relations reported by themselves as well as their family members. Family relations reported by people who inject drugs and their family members were positively correlated. The findings highlight the need for interventions that address psychological distress and the related challenges faced by family members of people who inject drugs. The article has policy implication which concludes with an argument for developing strategies that enhance the role of families in supporting behavioral change among people who inject drugs. Copyright © 2013 Elsevier B.V. All rights reserved.

Technical nursing students interacting with family members of hospitalized children

Directory of Open Access Journals (Sweden)

Juliana Yukari Takahashi Onishi

Full Text Available ABSTRACT Objective: To understand technical nursing students' meaning of interacting with family members of hospitalized children. Method: Symbolic Interactionism was used as the theoretical framework and Qualitative Content Analysis was the methodological procedure. A total of eight graduates from an institution situated in the city of Osasco, Sao Paulo state, participated in this study. Data were collected through semi-structured interviews. Results: A total of five representative themes were revealed: Dealing with difficult situations with family members; Perceiving oneself to be unprepared to interact with family members; Family members being a helpful tool; Developing strategies to obtain a good interaction with family members; and Teachers being facilitators of the interaction with family members. Final considerations: To be acquainted with this experience has led to the understanding of the need to include the theme of family care in the curriculum of the Technical Nursing Course. Additionally, the present study contributed to reflections on the importance of such knowledge for this population and to the development of future studies, as this theme has been scarcely explored in the literature.

Technical nursing students interacting with family members of hospitalized children.

Science.gov (United States)

Onishi, Juliana Yukari Takahashi; Ribeiro, Circéa Amália; Silva, Maria Cristina Ferreira Carlos Rodrigues da; Borba, Regina Issuzu Hirooka de

2017-01-01

To understand technical nursing students' meaning of interacting with family members of hospitalized children. Symbolic Interactionism was used as the theoretical framework and Qualitative Content Analysis was the methodological procedure. A total of eight graduates from an institution situated in the city of Osasco, Sao Paulo state, participated in this study. Data were collected through semi-structured interviews. A total of five representative themes were revealed: Dealing with difficult situations with family members; Perceiving oneself to be unprepared to interact with family members; Family members being a helpful tool; Developing strategies to obtain a good interaction with family members; and Teachers being facilitators of the interaction with family members. To be acquainted with this experience has led to the understanding of the need to include the theme of family care in the curriculum of the Technical Nursing Course. Additionally, the present study contributed to reflections on the importance of such knowledge for this population and to the development of future studies, as this theme has been scarcely explored in the literature.

Family presence during resuscitation: A descriptive study with Iranian nurses and patients' family members.

Science.gov (United States)

Zali, Mahnaz; Hassankhani, Hadi; Powers, Kelly A; Dadashzadeh, Abbas; Rajaei Ghafouri, Rouzbeh

2017-09-01

Family presence during resuscitation (FPDR) has advantages for the patients' family member to be present at the bedside. However, FPDR is not regularly practiced by nurses, especially in low to middle income countries. The purpose of this study was to determine Iranian nurses' and family members' attitudes towards FPDR. In a descriptive study, data was collected from the random sample of 178 nurses and 136 family members in four hospitals located in Iran. A 27-item questionnaire was used to collect data on attitudes towards FPDR, and descriptive and correlational analyses were conducted. Of family members, particularly the women, 57.2% (n=78) felt it is their right to experience FPDR and that it has many advantages for the family; including the ability to see that everything was done and worry less. However, 62.5% (n=111) of the nurses disagreed with an adult implementation of FPDR. Nurses perceived FPDR to have many disadvantages. Family members becoming distressed and interfering with the patient which may prolong the resuscitation effort. Nurses with prior education on FPDR were more willing to implement it. FPDR was desired by the majority of family members. To meet their needs, it is important to improve Iranian nurses' views about the advantages of the implementation of FPDR. Education on FPDR is recommended to improve Iranian nurses' views about the advantages of the implementation of FPDR. Copyright © 2017 Elsevier Ltd. All rights reserved.

Patient and family members perspectives on radioactive iodine treatment

Energy Technology Data Exchange (ETDEWEB)

McGrath, P.; Fitch, M.I. [Toronto-Sunnybrook Regional Cancer Centre, Toronto, Ontario (Canada)

1999-08-01

This report documents the findings of a survey of patients who received radioactive iodine therapy and their family members. The main objective of the survey was to gain an understanding of the experience of receiving radioactive iodine from the patient and family's perspective. The data from this study helped to inform the ARCP and GMA as they developed AC-9 - Principles of the management of radionuclide therapies. A survey was distributed to 700 patients and family members through physicians at 8 sites across Canada. Locations included: Newfoundland, Nova Scotia, Ontario (2 sites), Quebec (2 sites), Manitoba and British Columbia. A total of 190 patients and 140 family members returned completed surveys. Data was analyzed separately for individuals treated as inpatients and those treated as outpatients. The results of the survey provided a perspective from patients and families about their experiences regarding radioactive iodine therapy. The data indicate variation in patients' and family members' perspectives about how precautions are to be implemented. Both patients and family members expressed the desire for more information regarding many aspects of the treatment experience. The results have implications for the development of patient information, continuing education (in particular in the areas of precaution), the provision of access to supportive and counselling services, and the importance of looking at the individual situations of patients and their families. (author)

Patient and family members perspectives on radioactive iodine treatment

International Nuclear Information System (INIS)

McGrath, P.; Fitch, M.I.

1999-08-01

This report documents the findings of a survey of patients who received radioactive iodine therapy and their family members. The main objective of the survey was to gain an understanding of the experience of receiving radioactive iodine from the patient and family's perspective. The data from this study helped to inform the ARCP and GMA as they developed AC-9 - Principles of the management of radionuclide therapies. A survey was distributed to 700 patients and family members through physicians at 8 sites across Canada. Locations included: Newfoundland, Nova Scotia, Ontario (2 sites), Quebec (2 sites), Manitoba and British Columbia. A total of 190 patients and 140 family members returned completed surveys. Data was analyzed separately for individuals treated as inpatients and those treated as outpatients. The results of the survey provided a perspective from patients and families about their experiences regarding radioactive iodine therapy. The data indicate variation in patients' and family members' perspectives about how precautions are to be implemented. Both patients and family members expressed the desire for more information regarding many aspects of the treatment experience. The results have implications for the development of patient information, continuing education (in particular in the areas of precaution), the provision of access to supportive and counselling services, and the importance of looking at the individual situations of patients and their families. (author)

Si dios quiere: Hispanic families' experiences of caring for a seriously mentally ill family member.

Science.gov (United States)

Guarnaccia, P J; Parra, P; Deschamps, A; Milstein, G; Argiles, N

1992-06-01

Among Hispanics, the family is viewed as the primary care giver for seriously mentally ill family members. This paper reports on a study of minority families' conceptions of serious mental illness, of their interaction with mental health resources, and on the burdens experienced by families in caring for a seriously mentally ill family member. The focus of this paper is on Hispanic families in New Jersey, with some comparative data from other ethnic group families. Families' conceptions of serious mental illness are explored and analyzed to demonstrate the importance of concepts of nervios and fallo mental in shaping families' responses to their ill family member. Social support systems for families are also explored with particular attention to the role of religious institutions and religious healing as a major source of solace.

Military Personnel: Medical, Family Support, and Educational Services Are Available for Exceptional Family Members

National Research Council Canada - National Science Library

Crosse, Marcia

2007-01-01

The Department of Defense's (DOD) Exceptional Family Member Program (EFMP) is a mandatory enrollment program for active duty servicemembers who have family members with special medical needs. The Ronald W...

Strengths of families to limit relapse in mentally ill family members

African Journals Online (AJOL)

Tlhalefi T. Tlhowe

The purpose of this research was to explore and describe the strengths of .... In this review family strengths refer to qualities of families with a mentally ill .... they thought that their mentally ill family members were just acting out when ..... techniques, creative communication and praise as strengths. .... International Journal of.

The high price of depression: Family members' health conditions and health care costs.

Science.gov (United States)

Ray, G Thomas; Weisner, Constance M; Taillac, Cosette J; Campbell, Cynthia I

2017-05-01

To compare the health conditions and health care costs of family members of patients diagnosed with a Major Depressive Disorder (MDD) to family members of patients without an MDD diagnosis. Using electronic health record data, we identified family members (n=201,914) of adult index patients (n=92,399) diagnosed with MDD between 2009 and 2014 and family members (n=187,011) of matched patients without MDD. Diagnoses, health care utilization and costs were extracted for each family member. Logistic regression and multivariate models were used to compare diagnosed health conditions, health services cost, and utilization of MDD and non-MDD family members. Analyses covered the 5years before and after the index patient's MDD diagnosis. MDD family members were more likely than non-MDD family members to be diagnosed with mood disorders, anxiety, substance use disorder, and numerous other conditions. MDD family members had higher health care costs than non-MDD family members in every period analyzed, with the highest difference being in the year before the index patient's MDD diagnosis. Family members of patients with MDD are more likely to have a number of health conditions compared to non-MDD family members, and to have higher health care cost and utilization. Copyright © 2017. Published by Elsevier Inc.

Patients in a persistent vegetative state attitudes and reactions of family members.

Science.gov (United States)

Tresch, D D; Sims, F H; Duthie, E H; Goldstein, M D

1991-01-01

Patients in a persistent vegetative state (PVS) constituted approximately 3% of the population in four Milwaukee nursing homes. In order to understand family members' attitudes and reactions toward such patients, 33 (92%) of 36 family members of patients in PVS contacted were studied. The age of the patients ranged from 19 to 95 with a mean age of 73.4 +/- 17.2 years, and family members' ages ranged from 41 to 89 with a mean age of 61.8 +/- 3.3 years. The etiology of the PVS varied from dementia to cerebral trauma. The mean duration of the PVS was 54 +/- 8.4 months (range 12 to 204). Family members reported that they visited patients 260 times during the first year following the onset of the PVS and were still visiting at a rate of 209 visits yearly at the time of the interview. There was no significant correlation between the frequency of the family members visits and the duration of the PVS, the patient's or family member's age, or the family member's relationship to the patient. Ninety percent of patients were considered by family members to have some awareness of pain, light or darkness, environment, taste, verbal conversation, or the family member's presence. Most family members thought they understood the patient's medical condition, and the majority did not expect the patient to improve. Nevertheless, the majority of family members wanted the patient to undergo therapeutic interventions, including transfer to the acute hospital and surgery.(ABSTRACT TRUNCATED AT 250 WORDS)

Strengths of families to limit relapse in mentally ill family members ...

African Journals Online (AJOL)

Background: Relapse prevention in mental health care is important. Utilising the strengths of families can be a valuable approach in relapse prevention. Studies on family strengths have been conducted but little has been done on the strengths of family members to help limit relapse in mental health care users. The purpose ...

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

Science.gov (United States)

McWilliams, S; Nelson, T; Sudo, R T; Zapata-Sudo, G; Batti, M; Sambuughin, N

2002-07-01

Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. Haplotype analysis of the RYR1 gene area at 19q13 in the family with multiple MH members is an important tool in identification of genetic cause underlying this disease.

Effective doses to family members of patients treated with radioiodine-131

International Nuclear Information System (INIS)

Kocovska, M Zdraveska; Vaskova, O; Majstorov, V; Kuzmanovska, S; Gjorceva, D Pop; Jokic, V Spasic

2011-01-01

The purpose of this study was to evaluate the effective dose to family members of thyroid cancer and hyperthyroid patients treated with radioiodine-131, and also to compare the results with dose constraints proposed by the International Commission of Radiological Protection (ICRP) and the Basic Safety Standards (BSS) of the International Atomic Energy Agency (IAEA). For the estimation of the effective doses, sixty family members of sixty patients, treated with radioiodine-131, and thermoluminiscent dosimeters (Model TLD 100) were used. Thyroid cancer patients were hospitalized for three days, while hyperthyroid patients were treated on out-patient basis. The family members wore TLD in front of the torso for seven days. The radiation doses to family members of thyroid cancer patients were well below the recommended dose constraint of 1 mSv. The mean value of effective dose was 0.21 mSv (min 0.02 - max 0.51 mSv). Effective doses, higher than 1 mSv, were detected for 11 family members of hyperthyroid patients. The mean value of effective dose of family members of hyperthyroid patients was 0.87 mSv (min 0.12 - max 6.79). The estimated effective doses to family members of hyperthyroid patients were higher than the effective doses to family members of thyroid carcinoma patients. These findings may be considered when establishing new national guidelines concerning radiation protection and release of patients after a treatment with radioiodine therapy.

Mental Health and Family Relations: Correlated Reports from People Who Inject Drugs and their Family Members in Vietnam

Science.gov (United States)

Li, Li; Tuan, Nguyen Anh; Liang, Li-Jung; Lin, Chunqing; Farmer, Shu C.; Flore, Martin

2013-01-01

Background This article explores the association of people who inject drugs and their family members in terms of mental health and family relations. The objective was to understand the family context and its impact on people who inject drugs in a family-oriented culture in Vietnam. Methods Cross-sectional assessment data were gathered from 83 people who inject drugs and 83 of their family members recruited from four communes in Phú Thọ province, Vietnam. Depressive symptoms and family relations were measured for both people who inject drugs and family members. Internalized shame and drug-using behavior were reported by people who inject drugs, and caregiver burden was reported by family members. Results We found that higher level of drug using behavior of people who inject drugs was significantly associated with higher depressive symptoms and lower family relations reported by themselves as well as their family members. Family relations reported by people who inject drugs and their family members were positively correlated. Conclusion The findings highlight the need for interventions that address psychological distress and the related challenges faced by family members of people who inject drugs. The article has policy implication which concludes with an argument for developing strategies that enhance the role of families in supporting behavioral change of people who inject drugs. PMID:23910167

[The genotype-based haplotype relative risk and transmission disequilibrium test analyses of familial febrile convulsions].

Science.gov (United States)

Qi, Y; Wu, X; Guo, Z; Zhang, J; Pan, H; Li, M; Bao, X; Peng, J; Zou, L; Lin, Q

1999-10-01

To confirm the linkage of familial febrile convulsions to the short arm of chromosome 6(6p) or the long arm of chromosome 8(8q). The authors finished genotyping of Pst I locus on the coding region of heat shock protein (HSP) 70, 5'untranslated region of HSP70-1, 3' untranslated region of HSP70-2, D8S84 and D8S85. The data were processed by the genotype-based haplotype relative risk(GHRR) and transmission disequilibrium test(TDT) methods in PPAP. Some signs of association and disequilibrium between D8S85 and FC were shown by GHRR and TDT. A suspect linkage of familial febrile convulsions to the long arm of chromosome 8 has been proposed.

Resilient family processes, personal reintegration, and subjective well-being outcomes for military personnel and their family members.

Science.gov (United States)

Clark, Malissa A; O'Neal, Catherine W; Conley, Kate M; Mancini, Jay A

2018-01-01

Deployment affects not just the service members, but also their family members back home. Accordingly, this study examined how resilient family processes during a deployment (i.e., frequency of communication and household management) were related to the personal reintegration of each family member (i.e., how well each family member begins to "feel like oneself again" after a deployment), as well as several indicators of subjective well-being. Drawing from the family attachment network model (Riggs & Riggs, 2011), the present study collected survey data from 273 service members, their partners, and their adolescent children. Resilient family processes during the deployment itself (i.e., frequency of communication, household management), postdeployment positive and negative personal reintegration, and several indicators of well-being were assessed. Frequency of communication was related to personal reintegration for service members, while household management was related to personal reintegration for nondeployed partners; both factors were related to personal reintegration for adolescents. Negative and positive personal reintegration related to a variety of subjective well-being outcomes for each individual family member. Interindividual (i.e., crossover) effects were also found, particularly between adolescents and nondeployed partners. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Support for Teens When a Family Member has Cancer

Science.gov (United States)

When a parent, brother, or sister has been diagnosed with cancer, family members need extra support. Information to help teens learn how to cope, talk with family members, manage stress, and get support from counselors when a loved one has been diagnosed with, or is being treated for, cancer.

Military service absences and family members' mental health: A timeline followback assessment.

Science.gov (United States)

Rodriguez, Aubrey J; Margolin, Gayla

2015-08-01

Although military service, and particularly absence due to deployment, has been linked to risk for depression and anxiety among some spouses and children of active duty service members, there is limited research to explain the heterogeneity in family members' reactions to military service stressors. The current investigation introduces the Timeline Followback Military Family Interview (TFMFI) as a clinically useful strategy to collect detailed time-linked information about the service member's absences. Two dimensions of parent absence--the extent to which absences coincide with important family events and cumulative time absent--were tested as potential risks to family members' mental health. Data from 70 mother-adolescent pairs revealed that the number of important family events missed by the service member was linked to elevated youth symptoms of depression, even when accounting for the number of deployments and cumulative duration of the service member's absence. However, youth who reported more frequent contact with the service member during absences were buffered from the effects of extensive absence. Mothers' symptoms were associated with the cumulative duration of the service members' time away, but not with family events missed by the service member. These results identify circumstances that increase the risk for mental health symptoms associated with military family life. The TFMFI provides an interview-based strategy for clinicians wishing to understand military family members' lived experience during periods of service-member absence. (c) 2015 APA, all rights reserved).

Family members' lived experience in the intensive care unit: a phemenological study.

LENUS (Irish Health Repository)

McKiernan, Margaret

2012-01-31

AIM: To describe the lived experience of family members of patients in the intensive care unit. BACKGROUND: Admission of a critically ill relative to an intensive care unit causes anxiety and stress to family members. Nursing care is initially focused on maintaining the physiological stability of the patient and less on the needs and concerns of family members. Understanding how families make sense of this experience may help nurses focus on the delivery of family centred care. METHODOLOGY: A phenomenological method was used to describe the lived experiences of family members of patients in an intensive care unit. In-depth interviews were conducted with six family members and analysed using qualitative thematic analysis. RESULTS: Four main themes emerged from the data: the need to know, making sense of it all, being there with them and caring and support. Family members needed honest information about the patient\\'s progress and outcome to make the situation more bearable for them. Making sense of the situation was a continuous process which involved tracking and evaluating care given. Being with their relative sustained their family bond and was a way to demonstrate love and support. Caring reassurance provided by the nurses enabled a sense of security. Support was needed by family members to assist them in coping. CONCLUSION: The research provided an insight into how family members viewed the impact of the admission and how they subsequently found ways of dealing with the situation. RELEVANCE TO CLINICAL PRACTICE: Using a holistic approach to nursing assessment and care delivery in intensive care necessitates that nurses interact with and care for family members of patients. Development of a philosophy of family centred care is necessary, with formal assessment of families to take place soon after admission and an appropriate plan of care drawn up at this time.

Registered Nurses working together with family members of older people.

Science.gov (United States)

Weman, Karin; Fagerberg, Ingegerd

2006-03-01

The aim of the study was to reach a more profound understanding, through looking at nurses' working situation, of those factors that influence how nurses are able to work together with family members of older people living in nursing homes or similar facilities. Working with the care of older people as a Registered Nurse provides a varied job with many challenges. Nurses have to co-operate with family members of those in community health care. Co-operation is important and necessary for all involved. Nurses working in elder care in a geographically defined area received a questionnaire with three open-ended questions, on the difficulties and/or problems involved with working together with family members, and the positive or negative aspects of this co-operation. Analysis was carried out using the latent content analysis method. Three themes, problems within the system, interaction with families and caring in nursing work, are presented with categories and their subcategories. The nurses wanted their superior to be a nurse so that their working situation would be better understood. Appreciation from their superior and family members was also a very important part of their work as nurses in community health care. The frequent changes and the lack of time in the work of elder care often put nurses under considerable psychological pressure. For the most part family members are a resource for the elder, but sometimes they will avoid contact, which will make co-operating difficult. Registered Nurses and family members are dependent on each other in their care of the elder. Relevance to clinical practice. More attention should be paid to the working situation of Registered Nurses in community health care, and their ability to work together with family members of older people.

Routine HIV Testing of Family Members of Hospitalized Patients in Nigeria

Directory of Open Access Journals (Sweden)

Olusegun Busari

2012-04-01

Full Text Available Background: HIV testing for family members of HIV-positive patients may enhance disclosure of status of spouses, encourage family social support and improve access to HIV services. Objective was to employ the approach of routine HIV testing to determine the prevalence of HIV among family members of both HIV positive and negative patients on admission in a federal HIV treatment designated hospital in Western Nigeria Methodology: This prospective study was conducted between January 2006 and June 2009. Ethical clearance was obtained from the Research and Ethics committee of the hospital prior to the study. Informed consent was obtained from each participant. HIV testing was offered to consenting family members of HIV positive and negative patients on admission. The family members included spouses, children of patients, parents of paediatric patients and other family members. Analysis was done in frequencies and percentages Results: 162 family members of 184 patients were tested. Spouses were, 81 (50.0%; fathers, 14 (8.6%; mothers, 20 (12.3%; children, 19 (11.7% and others family members, 28 (17.3%. 151 (93.2% of testers were first timers. Majority of those tested (82.1% had post-test counseling. The overall HIV prevalence was 12.3% (20/162. HIV prevalence within different family members was 14.8% (12/81, 20% (4/20, 7.1% (1/14, 10.5% (2/19 and 3.6% (1/28 for spouses, mothers, fathers, children and others respectively.In addition, the prevalence of HIV among family members of HIV positive and negative patients was 15.6% (14/90 and 8.3% (6/72 respectively. Of 12 spouses that were positive, 7 (13.5% were HIV-discordant; and in 71.4% (5/7 of discordant couples, the spouse was positive while the patient on admission was negative. Conclusion: The results indicate that routine HIV testing of family members of patients on admission is a strategy for identification of vast number of HIV infected persons. This method is not only innovative, but also a novel

REGISTRATION OF VEHICLES IN SWITZERLAND: MEMBERS OF THE FAMILY OF A MEMBER OF THE PERSONNEL

CERN Multimedia

Service des Relations avec les Pays Hôtes

1999-01-01

The Permanent Mission of Switzerland to the International Organisations in Geneva has informed CERN that members of the family of a member of the personnel who hold a carte delégitimation or a Ci permit may not register a vehicle in Switzerland. Only those members of the family who are of Swiss nationality or hold an ordinary permit (e.g. a 'B' or 'C' permit) may register vehicles in their own names.Relations with the Host States Servicehttp://www.cern.ch/relations/Tel. 72848

Perceived Family Resources Based on Number of Members with ADHD

Science.gov (United States)

Corwin, Melinda; Mulsow, Miriam; Feng, Du

2012-01-01

Objective: This study examines how the number of family members with ADHD affects other family members' perceived resources. Method: A total of 40 adolescents diagnosed with ADHD and their mothers, fathers, and adolescent siblings living in the household participated. Hierarchical linear modeling was used to analyze family-level data from a total…

Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.

Science.gov (United States)

Bampi, Giovana B; Bisso-Machado, Rafael; Hünemeier, Tábita; Gheno, Tailise C; Furtado, Gabriel V; Veliz-Otani, Diego; Cornejo-Olivas, Mario; Mazzeti, Pillar; Bortolini, Maria Cátira; Jardim, Laura B; Saraiva-Pereira, Maria Luiza

2017-12-01

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and epilepsy. The disease is caused by a pentanucleotide ATTCT expansion in intron 9 of the ATXN10 gene on chromosome 22q13.3. SCA10 has shown a geographical distribution throughout America with a likely degree of Amerindian ancestry from different countries so far. Currently available data suggest that SCA10 mutation might have spread out early during the peopling of the Americas. However, the ancestral origin of SCA10 mutation remains under speculation. Samples of SCA10 patients from two Latin American countries were analysed, being 16 families from Brazil (29 patients) and 21 families from Peru (27 patients) as well as 49 healthy individuals from Indigenous Quechua population and 51 healthy Brazilian individuals. Four polymorphic markers spanning a region of 5.2 cM harbouring the ATTCT expansion were used to define the haplotypes, which were genotyped by different approaches. Our data have shown that 19-CGGC-14 shared haplotype was found in 47% of Brazilian and in 63% of Peruvian families. Frequencies from both groups are not statistically different from Quechua controls (57%), but they are statistically different from Brazilian controls (12%) (p Quechuas, 19-15-CGGC-14-10, is found in 50% of Brazilian and in 65% of Peruvian patients with SCA10. These findings bring valuable evidence that ATTCT expansion may have arisen in a Native American chromosome.

The dying child and surviving family members.

Science.gov (United States)

Shrier, D K

1980-12-01

This overview of death and dying focuses on the dying child and surviving family members. Children's concepts of death at different developmental stages are reviewed. These range from an inability to distinguish death from other forms of separation prior to age 3, through partial concepts of death until, by age 10 to 15 years, children are able to conceptualize death as universal, inevitable and final. The importance of adults assisting in the child's growing comprehension of death is stressed. The stages of grief and mourning, as outlined by Kubler-Ross, are reviewed from the perspective of the child and family: denial, anger, bargaining, depression and acceptance. Recognition is given to the variations in coping styles among different family members. The special circumstances related to the death of an infant and the impact of the death of a child on the surviving siblings are discussed. Specific helpful interventions to assist families in coping with mourning are described. The death of a child remains one of the most painful and difficult events for a family and its physician to accept.

Ten Warning Signs Your Older Family Member May Need Help

Science.gov (United States)

... Warning Signs Your Older Family Member May Need Help Changes in physical and cognitive abilities that may ... and their family members, friends, and caregivers. To help in determining when an older adult may need ...

Approximation properties of haplotype tagging

Directory of Open Access Journals (Sweden)

Dreiseitl Stephan

2006-01-01

Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs are locations at which the genomic sequences of population members differ. Since these differences are known to follow patterns, disease association studies are facilitated by identifying SNPs that allow the unique identification of such patterns. This process, known as haplotype tagging, is formulated as a combinatorial optimization problem and analyzed in terms of complexity and approximation properties. Results It is shown that the tagging problem is NP-hard but approximable within 1 + ln((n2 - n/2 for n haplotypes but not approximable within (1 - ε ln(n/2 for any ε > 0 unless NP ⊂ DTIME(nlog log n. A simple, very easily implementable algorithm that exhibits the above upper bound on solution quality is presented. This algorithm has running time O((2m - p + 1 ≤ O(m(n2 - n/2 where p ≤ min(n, m for n haplotypes of size m. As we show that the approximation bound is asymptotically tight, the algorithm presented is optimal with respect to this asymptotic bound. Conclusion The haplotype tagging problem is hard, but approachable with a fast, practical, and surprisingly simple algorithm that cannot be significantly improved upon on a single processor machine. Hence, significant improvement in computatational efforts expended can only be expected if the computational effort is distributed and done in parallel.

Family Members' Reports of the Technology Use of Family Members with Intellectual and Developmental Disabilities

Science.gov (United States)

Palmer, S. B.; Wehmeyer, M. L.; Davies, D. K.; Stock, S. E.

2012-01-01

Background: A nationwide survey of family members of people with intellectual and developmental disabilities ranging in age from birth through adulthood was conducted to replicate a similar effort by Wehmeyer and update the knowledge base concerning technology use by people with intellectual and developmental disabilities. Method: Survey responses…

Stress-coping morbidity among family members of addiction patients in Singapore.

Science.gov (United States)

Lee, Kae Meng Thomas; Manning, Victoria; Teoh, Hui Chin; Winslow, Munidasa; Lee, Arthur; Subramaniam, Mythily; Guo, Song; Wong, Kim Eng

2011-07-01

INTRODUCTIONS AND AIMS: Research from western countries indicates that family members of addiction patients report heightened stress and psychological morbidity. This current study aimed to examine stress, coping behaviours, related morbidity and subsequent resource utilisation among family members of patients attending a national treatment program in Singapore. The study used a matched case-control design. One hundred family members of addiction patients attending treatment and 100 matched controls completed a semi-structured interview with a researcher. This included the Beck Depression Inventory-II, Short-Form Health Survey-36, General Health Questionnaire-28, Perceived Stress Scale, Family Member Impact Scale and Coping Questionnaire, and also assessed service utilisation. T-tests revealed significantly greater depression, stress and psychiatric morbidity and poorer overall well-being (Short-Form Health Survey-36) among family members compared with controls. Despite the apparent negative impact on mental health, their physical morbidity did not differ from controls and services utilisation was low. Tolerant-inactive coping was found to be most strongly correlated with psychological well-being. Multivariate analysis indicated that perceived stress was the strongest predictor of overall strain (General Health Questionnaire), but this was not moderated by coping style. Subjective appraisal of stress and coping responses are essential factors affecting the morbidity of family members. Family members demonstrated a need and willingness to engage in formal treatment/counselling for their own problems that were attributed to living with an addiction patient. This provides an opportunity for stress management and brief interventions to modify coping styles, thereby minimizing the potential negative mental health impact on family members. © 2011 Australasian Professional Society on Alcohol and other Drugs.

Strategies needed to involve men, other family members.

Science.gov (United States)

Barnett, B

1998-01-01

Women typically do not make decisions about contraceptive use and family planning on their own, and many women often have little, if any, decision-making power in the home. Strategies are therefore needed to empower women, educate family members, and involve men in reproductive health programs. Policymakers should expand the range of male services and encourage the greater use of male contraceptive methods. Furthermore, health programs should include counseling to help men and women improve their communications skills and conduct education campaigns to inform men about the roles they can play in family planning. Men should also learn about the side effects of both male and female methods, since concern over method side effects can frustrate their support of family planning. Appropriate strategies can be tailored to meet individual group needs. Programs in Madagascar, Bangladesh, Honduras, and Nepal are described as examples of how the support of family members can positively affect family planning use and reproductive health.

Cluster analysis of European Y-chromosomal STR haplotypes using the discrete Laplace method

DEFF Research Database (Denmark)

Andersen, Mikkel Meyer; Eriksen, Poul Svante; Morling, Niels

2014-01-01

The European Y-chromosomal short tandem repeat (STR) haplotype distribution has previously been analysed in various ways. Here, we introduce a new way of analysing population substructure using a new method based on clustering within the discrete Laplace exponential family that models the probabi......The European Y-chromosomal short tandem repeat (STR) haplotype distribution has previously been analysed in various ways. Here, we introduce a new way of analysing population substructure using a new method based on clustering within the discrete Laplace exponential family that models...... the probability distribution of the Y-STR haplotypes. Creating a consistent statistical model of the haplotypes enables us to perform a wide range of analyses. Previously, haplotype frequency estimation using the discrete Laplace method has been validated. In this paper we investigate how the discrete Laplace...... method can be used for cluster analysis to further validate the discrete Laplace method. A very important practical fact is that the calculations can be performed on a normal computer. We identified two sub-clusters of the Eastern and Western European Y-STR haplotypes similar to results of previous...

A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

Science.gov (United States)

Qin, Wei; Shu, Anli; Qian, Xueqing; Gao, Jianjun; Xing, Qinghe; Zhang, Juan; Zheng, Yonglan; Li, Xingwang; Li, Sheng; Feng, Guoyin; He, Lin

2006-08-28

The molecular characterization of 34 members of a Chinese family, with 22 members in four generations, affected with Waardenburg syndrome (WS1). A detailed family history and clinical data were collected. A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with haplotype analysis was performed. Mutation screening was carried out in the candidate gene by sequencing of amplified products. A maximum two-point lod score of 6.53 at theta = 0.00 was obtained with marker D2S2248. Haplotype analysis placed the WS1 locus to a 45.74 cM region between D2S117 and D2S206, in close proximity to the PAX3 gene on chromosome 2q35. Mutation screening in PAX3 identified a 701T > C mutation which converted a highly conserved Leu to Pro. This nucleotide alteration was neither seen in unaffected members of the family nor found in 50 unrelated control subjects. The present study identified a novel 701T > C mutation in PAX3. The mutation observed in this family highlights the phenotypic heterogeneity of the disorder.

Knowledge of Dementia: Do family members understand dementia as a terminal condition?

Science.gov (United States)

Andrews, Sharon; McInerney, Fran; Toye, Christine; Parkinson, Camillus-Anthony; Robinson, Andrew

2017-07-01

Current research identifies advanced dementia to be the terminal phase of this progressive and incurable condition. However, there has been relatively little investigation into how family members of people with advanced dementia understand their relative's condition. In this article, we report on semi-structured interviews with 10 family members of people with advanced dementia, in a residential aged care facility. Using a qualitative, descriptive design, we explored family members' understandings of dementia, whether they were aware that it was a terminal condition, and the ways they developed their understandings. Findings revealed that the majority of family members could not recognize the terminal nature of dementia. Relying on predominantly lay understandings, they had little access to formal information and most failed to conceptualize a connection between dementia and death. Moreover, family members engaged in limited dialogue with aged care staff about such issues, despite their relatives being in an advanced stage of the disease. Findings from our study suggest that how family members understand their relative's condition requires greater attention. The development of staff/family partnerships that promote shared communication about dementia and dying may enhance family members' understandings of the dementia trajectory and the types of decisions they may be faced with during the more advanced stages of the disease.

Resilience in families in which a member has been diagnosed with schizophrenia.

Science.gov (United States)

Bishop, M; Greeff, A P

2015-09-01

Due to the extensive focus of the literature on the burden placed on families in which a member has been diagnosed with a mental illness such as schizophrenia, there is a need to identify factors that may help these families to be resilient and adapt to their crisis. The aim of this study was to identify family resilience qualities in families in which a member has been diagnosed with schizophrenia. The study comprised 42 families, represented by 33 parents and 9 siblings of the diagnosed family member. Families were recruited from three support groups within the Cape Metropolitan area, Western Cape, South Africa. Qualitative data were obtained through an open-ended question and quantitative data were collected with seven self-report questionnaires. The following family resilience qualities were identified: family income; finding support in their community; family togetherness; family communication style during crises; affirming and supportive communication patterns; family hardiness; commitment to the family; reframing crises as a challenge; and an internal locus of control within the family. The findings may be used by professionals and support group facilitators to enhance the resilience and functioning of families living with a member with schizophrenia. With approximately 1% of the world's population diagnosed with schizophrenia, it is clear that many families are affected when a member has been diagnosed. There is a need to identify factors that may help these families to be resilient. The aim of this study was to identify family resilience qualities in families in which a member has been diagnosed with schizophrenia. The following family resilience qualities were identified as resources that helped them to adapt to the many challenges put to them: family income, finding support in their community, the availability of hospitals, churches and professionals, family togetherness, family communication, family hardiness, commitment to the family, reframing crises

Mapping Haplotype-haplotype Interactions with Adaptive LASSO

Directory of Open Access Journals (Sweden)

Li Ming

2010-08-01

Full Text Available Abstract Background The genetic etiology of complex diseases in human has been commonly viewed as a complex process involving both genetic and environmental factors functioning in a complicated manner. Quite often the interactions among genetic variants play major roles in determining the susceptibility of an individual to a particular disease. Statistical methods for modeling interactions underlying complex diseases between single genetic variants (e.g. single nucleotide polymorphisms or SNPs have been extensively studied. Recently, haplotype-based analysis has gained its popularity among genetic association studies. When multiple sequence or haplotype interactions are involved in determining an individual's susceptibility to a disease, it presents daunting challenges in statistical modeling and testing of the interaction effects, largely due to the complicated higher order epistatic complexity. Results In this article, we propose a new strategy in modeling haplotype-haplotype interactions under the penalized logistic regression framework with adaptive L1-penalty. We consider interactions of sequence variants between haplotype blocks. The adaptive L1-penalty allows simultaneous effect estimation and variable selection in a single model. We propose a new parameter estimation method which estimates and selects parameters by the modified Gauss-Seidel method nested within the EM algorithm. Simulation studies show that it has low false positive rate and reasonable power in detecting haplotype interactions. The method is applied to test haplotype interactions involved in mother and offspring genome in a small for gestational age (SGA neonates data set, and significant interactions between different genomes are detected. Conclusions As demonstrated by the simulation studies and real data analysis, the approach developed provides an efficient tool for the modeling and testing of haplotype interactions. The implementation of the method in R codes can be

Family Benefits In Member States Of The European Union: A Comparative Perspective

Directory of Open Access Journals (Sweden)

Stănescu Simona Maria

2015-06-01

Full Text Available The article intends to be a screening of family benefits in the 28 Member States of the European Union (EU and to contribute to the research of shared trends with respect to family approach in these countries. Four types of family benefits including eight distinctive categories are analysed: child-benefit, child care allowances, child-raising allowances, and other benefits (birth and adoption grants, allowance for single parents, special allowances for children with disabilities, advance payments for maintenance and other allowances. The paper is based on primary and secondary analysis of 28 sets of national data provided through the European Union's Mutual Information System on Social Protection (MISSOC. Three categories of member states are considered: founder member states of the EU, other “old” member states, and the new Central and Eastern ones. Chronological development of national regulations with impact on family benefits is analysed in connection with the moment of becoming a member state. Various forms of family benefits legislation and their main subjects of interest are further researched. The last part of the article looks at the coverage of family benefits. Seven member states operate in this respect based on regulations adopted before EU accession. Belgium, Finland, and Lithuania have the “most preserved” family regulations per category of member states. The first three topics of family regulations are: child, family, and allowance / benefit. The most frequently provided family benefits are: birth and adoption grants, and special allowance for children with disabilities. All eight family benefits are provided in France, Finland, Hungary, and Slovenia. Only two types of family benefits are available in Ireland, Spain, and Cyprus.

Female children with incarcerated adult family members at risk for lifelong neurological decline.

Science.gov (United States)

Brewer-Smyth, Kathleen; Pohlig, Ryan T; Bucurescu, Gabriel

2016-07-01

A secondary analysis of data from adult female prison inmates in the mid-Atlantic United States defined relationships between having incarcerated adult family members during childhood and neurological outcomes. Of 135 inmates, 99 (60%) had one or more incarcerated adult family members during childhood. Regression analyses revealed that having incarcerated adult family members was related to greater frequency and severity of childhood abuse and higher incidence of neurological deficits in adulthood, especially related to traumatic brain injuries, compared to those without incarcerated adult family members. Along with being role models, adult family members impact the neurological health of children throughout their life-span.

Association between SNP and haplotypes in PPARGCl and adiponectin genes and bone mineral density in Chinese nuclear families

Institute of Scientific and Technical Information of China (English)

Zhen-lin ZHANG; Jin-wei HE; Yue-juan QIN; Yun-qiu HU; Miao LI; Yu-juan LIU; Hao ZHANG; Wei-wei HU

2007-01-01

Aim: To assess the contribution of single nucleotide polymorphisms (SNP) and haplotypes in the peroxisome proliferator-activated receptor-γ co-activator-1(PPARGC1) and adiponectin genes to normal bone mineral density (BMD) variation in healthy Chinese women and men. Methods: We performed population-based (ANOVA) and family-based (quantitative trait locus transmission disequi-librium test) association studies of PPARGC1 and adiponectin genes. SNP in the 2 genes were genotyped. BMD was measured using dual-energy X-ray absorptiometry in the lumbar spine and hip in 401 nuclear families with a total of1260 subjects, including 458 premenopausal women, 20-40 years of age; 401 post-menopausal women (mothers), 43-74 years of age; and 401 men (fathers), 49-76years of age. Results: Significant within-family association was found between the Thr394Thr polymorphism in the PPGAGC1 gene and peak BMD in the femoral neck (P=0.026). Subsequent permutations were in agreement with this significant within-family association result (P=0.016), but Thr394Thr SNP only accounted for0.7% of the variation in femoral neck peak BMD. However, no significant within-family association was detected between each SNP in the adiponect in gene and peak BMD. Although no significant association was found between BMD and SNP in the PPARGC1 and adiponectin genes in both men and postmenopausal women, haplotype 2 (T-T) in the adiponect in gene was associated with lumbar spine BMD in postmenopausal women (P=0.019). Conclusion: Our findings sug-gest that Thr394Thr SNP in the PPARGC1 gene was associated with peak BMD in the femoral neck in Chinese women. Confirmation of our results is needed in other populations and with more functional markers within and flanking the PPARGC1 or adiponectin genes region.

Family Decision Making: Benefits to Persons with Developmental Disabilities and Their Family Members

Science.gov (United States)

Neely-Barnes, Susan; Graff, J. Carolyn; Marcenko, Maureen; Weber, Lisa

2008-01-01

Family involvement in planning and choosing services has become a key intervention concept in developmental disability services. This study (N = 547) modeled patterns of family decision making and assessed benefits to persons with developmental disabilities (DDs) and their family members. A latent profile analysis identified 4 classes that were…

Understanding of advance care planning by family members of persons undergoing hemodialysis.

Science.gov (United States)

Calvin, Amy O; Engebretson, Joan C; Sardual, S Alexander

2014-11-01

The purpose of this qualitative descriptive study was to explore hemodialysis patients' family members' understanding of end-of-life decision-making processes. The project aimed to address (a) family members' constructions of advance care planning (ACP), including their roles and responsibilities, and (b) family members' perceptions of health care providers' roles and responsibilities in ACP. Eighteen family members of persons undergoing hemodialysis were recruited primarily from outpatient dialysis facilities and interviewed individually. Confirmed transcript data were analyzed, coded, and compared, and categories were established. Interpretations were validated throughout the interviews and peer debriefing sessions were used at a later stage in the analysis. The overarching construct identified was one of Protection. Family members protect patients by (a) Sharing Burdens, (b) Normalizing Life, and (c) Personalizing Care. Recommendations for future research include the need to explore ACP of persons undergoing hemodialysis who do not have a family support system. © The Author(s) 2013.

Effective doses to family members of patients treated with radioiodine 131

International Nuclear Information System (INIS)

Kocovska, Marina Zdravevska; Ristevska, Svetlana Micevska; Nikolovski, Sasho; Jokic, Vesna Spasic

2010-01-01

The purpose of this study was to evaluate the effective dose to family members of thyroid cancer and hyperthyroid patients treated with radioiodine 131; also to compare the results with dose constraints proposed by International Commission of Radiological Protection (ICRP) and Basic Safety Standards (BSS) of the International Atomic Energy Agency (IAEA). Material and methods: for estimation of effective doses at sixty family members of thirty thyroid cancer and thirty hyperthyroid patients treated with radioiodine 131, the thermoluminescent dosimeters, Model TLD 100, were used. Thyroid cancer patients were hospitalized for three days, while hyperthyroid patients were treated on out-patient basis. The family members wore thermoluminescent dosimeter in front of the torso for seven days. Results: The radiation doses to family members of thyroid cancer patients were well below recommended dose constraint of 1 mSv. The mean value of effective dose was 0.21 mSv (min 0.02 - max 0.51 mSv). Effective doses, higher than 1 mSv, were detected at 11 family members of hyperthyroid patients.. The mean value of effective dose at family members of hyperthyroid patients was 0.87 mSv (min 0.12 - max 6.79) Conclusion: After three days of hospitalization and detailed given oral and written instruction, thyroid carcinoma patients maintain not to exceed the proposed dose limits. Hyperthyroid patients present a greater radiation hazard than thyroid carcinoma patients. The estimated effective doses were higher than the effective doses at family members of thyroid carcinoma patients. These findings may be considered when establishing new national guidelines concerning radiation protection and release of patients after a treatment with radioiodine therapy.(Author)

Beta-globin gene cluster haplotypes of Amerindian populations from the Brazilian Amazon region.

Science.gov (United States)

Guerreiro, J F; Figueiredo, M S; Zago, M A

1994-01-01

We have determined the beta-globin cluster haplotypes for 80 Indians from four Brazilian Amazon tribes: Kayapó, Wayampí, Wayana-Apalaí, and Arára. The results are analyzed together with 20 Yanomámi previously studied. From 2 to 4 different haplotypes were identified for each tribe, and 7 of the possible 32 haplotypes were found in a sample of 172 chromosomes for which the beta haplotypes were directly determined or derived from family studies. The haplotype distribution does not differ significantly among the five populations. The two most common haplotypes in all tribes were haplotypes 2 and 6, with average frequencies of 0.843 and 0.122, respectively. The genetic affinities between Brazilian Indians and other human populations were evaluated by estimates of genetic distance based on haplotype data. The lowest values were observed in relation to Asians, especially Chinese, Polynesians, and Micronesians.

Exploring the stigma related experiences of family members of ...

African Journals Online (AJOL)

Celenkosini Thembelenkosini Nxumalo

a cycle of disability on the part of the patient and family. Purpose: To explore the stigma .... prevention of stigmatisation of people with mental illness and their families in rural ... as a family member's accounts of stigma related feelings, situations or ..... ishment from the family as a reason for the bad behaviour. The participants ...

Sensory loss amongst old family members

DEFF Research Database (Denmark)

Rasmussen, Jon Dag; Winther, Ida Wentzel

2018-01-01

and their close family. Our tentative findings point towards a prominence of different insecurities and discomforts in social life that directly links to the decreased sensory abilities. Experiences of being ‘lost’, ‘set afloat’ and disconnected in everyday life interactions are broadly described by all...... on the old people suffering a decline in sensory abilities, but also on family members as individual loss becomes collective loss in the context of family and kinship. The paper presentation takes its point of departure in rough pieces of empirical material (e.g. film-clips, sound......-clips/montage and ethnographic description) and through exposition of tentative analysis and research findings we aim to initiate a discussion around central themes of the work....

The impact of leader-member exchange (LMX) on work-family interference and work-family facilitation

NARCIS (Netherlands)

L.G. Tummers (Lars); B.A.C. Bronkhorst (Babette)

2014-01-01

markdownabstract__Abstract__ Purpose – We analyze the effects of leadership on work-family spillovers. Specifically, we analyze the relationships between leadership (leader-member exchange, LMX) with one negative work-family spillover effect (work-family interference) and one positive work-family

"Living with dying": the evolution of family members' experience of mechanical ventilation.

Science.gov (United States)

Sinuff, Tasnim; Giacomini, Mita; Shaw, Rhona; Swinton, Marilyn; Cook, Deborah J

2009-01-01

Communication with families about mechanical ventilation may be more effective once we gain a better understanding of what families experience and understand about this life support technology when their loved ones are admitted to the intensive care unit (ICU). We conducted in-depth interviews with family members of 27 critically ill patients who required mechanical ventilation for > or = 7 days and had an estimated ICU mortality of > or = 50%. Team members reviewed transcripts independently and used grounded theory analysis. The central theme of family members' experience with mechanical ventilation was "living with dying." Initial reactions to the ventilator were of shock and surprise. Family members perceived no option except mechanical ventilation. Although the ventilator kept the patient alive, it also symbolized proximity to death. In time, families became accustomed to images of the ICU as ventilation became more familiar and routine. Their shock and horror were replaced by hope that the ventilator would allow the body to rest, heal, and recover. However, ongoing exposure to their loved one's critical illness and the new role as family spokesperson were traumatizing. Family members' experiences and their understanding of mechanical ventilation change over time, influenced by their habituation to the ICU environment and its routines. They face uncertainty about death, but maintain hope. Understanding these experiences may engender more respectful, meaningful communication about life support with families.

Genetic insights into family group co-occurrence in Cryptocercus punctulatus, a sub-social woodroach from the southern Appalachian Mountains

Directory of Open Access Journals (Sweden)

Ryan C. Garrick

2017-03-01

Full Text Available The wood-feeding cockroach Cryptocercus punctulatus Scudder (Blattodea: Cryptocercidae is an important member of the dead wood (saproxylic community in montane forests of the southeastern United States. However, its population biology remains poorly understood. Here, aspects of family group co-occurrence were characterized to provide basic information that can be extended by studies on the evolution and maintenance of sub-sociality. Broad sampling across the species’ range was coupled with molecular data (mitochondrial DNA (mtDNA sequences. The primary questions were: (1 what proportion of rotting logs contain two or more different mtDNA haplotypes and how often can this be attributed to multiple families inhabiting the same log, (2 are multi-family logs spatially clustered, and (3 what levels of genetic differentiation among haplotypes exist within a log, and how genetically similar are matrilines of co-occurring family groups? Multi-family logs were identified on the premise that three different mtDNA haplotypes, or two different haplotypes among adult females, is inconsistent with a single family group founded by one male–female pair. Results showed that of the 88 rotting logs from which multiple adult C. punctulatus were sampled, 41 logs (47% contained two or more mtDNA haplotypes, and at least 19 of these logs (22% overall were inferred to be inhabited by multiple families. There was no strong evidence for spatial clustering of the latter class of logs. The frequency distribution of nucleotide differences between co-occurring haplotypes was strongly right-skewed, such that most haplotypes were only one or two mutations apart, but more substantial divergences (up to 18 mutations, or 1.6% uncorrected sequence divergence do occasionally occur within logs. This work represents the first explicit investigation of family group co-occurrence in C. punctulatus, providing a valuable baseline for follow-up studies.

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

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Hilgert, N; Kahrizi, K; Dieltjens, N; Bazazzadegan, N; Najmabadi, H; Smith, R J H; Van Camp, G

2009-04-01

Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype. To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss. Mutation analysis of all 90 coding exons of GPR98. Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. We identified a new mutation in GPR98 segregating with USH2C in this family. The mutation is a large deletion g.371657_507673del of exons 84 and 85, presumably leading to a frameshift. A large GPR98 deletion of 136 017 bp segregates with USH2C in an Iranian family. To our knowledge, this is only the second report of a GPR98 mutation, and the first report on male subjects with USH2C and a GPR98 mutation.

Perceptions of Individual and Family Functioning Among Deployed Female National Guard Members.

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Kelly, Patricia J; Cheng, An-Lin; Berkel, LaVerne A; Nilsson, Johanna

2016-08-01

Females currently make up 15% of U.S. military service members. Minimal attention has been paid to families of female National Guard members who have been deployed and their subsequent reintegration challenges. This cross-sectional Internet-based survey of female members of four National Guard units compared those who were and were not deployed. Instruments, guided by the variables of the Family Resilience Model, measured individual, family, and deployment-related factors. Bivariate analysis and ordinal logistic regression were done to assess differences between the groups. Of the 239 National Guard members surveyed, deployed women (n = 164) had significantly higher levels of posttraumatic stress disorder (PTSD; p family functioning were higher among deployed when compared with never deployed women. Results indicate community interventions that focus on strengthening coping skills of female Guard members would be useful for this population. © The Author(s) 2016.

Family members' expectations regarding nurses' competence in care homes: a qualitative interview study.

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Kiljunen, Outi; Kankkunen, Päivi; Partanen, Pirjo; Välimäki, Tarja

2017-11-22

Structural and cultural changes in the care of older people have influenced nursing practice, creating a need to identify current competency requirements for nurses working in care homes. Family members have an important role in ensuring the well-being of older people living in care homes, and family members' can provide valuable information about competence requirements. To explore the expectations of the care home residents' family members regarding the competence of nurses in care homes for older people. A qualitative descriptive design was used. Semi-structured interviews were conducted with 18 care home residents' family members between March and September 2016. Participants were recruited with help from regional associations and member associations of The Central Association of Carers in Finland and from regional associations of The Alzheimer's Society of Finland. The snowball technique was also used. The data were analysed using inductive content analysis. Ethics committee approval was obtained from the university committee on research ethics, and written informed consent was obtained from participants. The care home residents' family members expected that nurses would be able to interact with and treat people respectfully. Reflective collaboration between the nurse and a family member was also emphasised. Family members expected nurses to provide high-quality basic care and nursing and support residents' well-being individually and holistically. Family members' expectations reflect the need for ethical and interactional competence in the care home. In addition, evidence-based practice competencies are required to provide high-quality care. Nurses' ability to provide person-centred, individual and holistic care is vital to ensure care home residents' well-being. © 2017 Nordic College of Caring Science.

Suicidal Ideation and Distress in Family Members Bereaved by Suicide in Portugal

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Santos, Sara; Campos, Rui; Tavares, Sofia

2015-01-01

The present study assessed the impact of suicide and distress on suicidal ideation in a sample of 93 Portuguese family members bereaved by suicide. A control community sample of 102 adults also participated. After controlling for educational level, those bereaved by the suicide of a family member were found to have higher levels of suicidal ideation. Forty-two percent of family members had Suicide Ideation Questionnaire scores at or above the cutoff point. General distress, dep...

Female children with incarcerated adult family members at risk for life-long neurological decline

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Brewer-Smyth, Kathleen; Pohlig, Ryan T.; Bucurescu, Gabriel

2016-01-01

A secondary analysis of data from adult female prison inmates in the mid-Atlantic United States defined relationships between having incarcerated adult family members during childhood and neurological outcomes. Of 135 inmates, 99(73%) had one or more incarcerated adult family members during childhood. Regression analyses revealed that having incarcerated adult family members was related to greater frequency and severity of childhood abuse and higher incidence of neurological deficits in adulthood, especially related to traumatic brain injuries, compared to those without incarcerated adult family members. Along with being role models, adult family members impact the neurological health of children throughout their lifespan. PMID:26788781

Acute Physiologic Stress and Subsequent Anxiety Among Family Members of ICU Patients.

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Beesley, Sarah J; Hopkins, Ramona O; Holt-Lunstad, Julianne; Wilson, Emily L; Butler, Jorie; Kuttler, Kathryn G; Orme, James; Brown, Samuel M; Hirshberg, Eliotte L

2018-02-01

The ICU is a complex and stressful environment and is associated with significant psychologic morbidity for patients and their families. We sought to determine whether salivary cortisol, a physiologic measure of acute stress, was associated with subsequent psychologic distress among family members of ICU patients. This is a prospective, observational study of family members of adult ICU patients. Adult medical and surgical ICU in a tertiary care center. Family members of ICU patients. Participants provided five salivary cortisol samples over 24 hours at the time of the patient ICU admission. The primary measure of cortisol was the area under the curve from ground; the secondary measure was the cortisol awakening response. Outcomes were obtained during a 3-month follow-up telephone call. The primary outcome was anxiety, measured by the Hospital Anxiety and Depression Scale-Anxiety. Secondary outcomes included depression and posttraumatic stress disorder. Among 100 participants, 92 completed follow-up. Twenty-nine participants (32%) reported symptoms of anxiety at 3 months, 15 participants (16%) reported depression symptoms, and 14 participants (15%) reported posttraumatic stress symptoms. In our primary analysis, cortisol level as measured by area under the curve from ground was not significantly associated with anxiety (odds ratio, 0.94; p = 0.70). In our secondary analysis, however, cortisol awakening response was significantly associated with anxiety (odds ratio, 1.08; p = 0.02). Roughly one third of family members experience anxiety after an ICU admission for their loved one, and many family members also experience depression and posttraumatic stress. Cortisol awakening response is associated with anxiety in family members of ICU patients 3 months following the ICU admission. Physiologic measurements of stress among ICU family members may help identify individuals at particular risk of adverse psychologic outcomes.

The impact of leader-member exchange (LMX) on work-family interference and work-family facilitation

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L.G. Tummers (Lars); B.A.C. Bronkhorst (Babette)

2014-01-01

markdownabstract__Abstract__ __Purpose__ – We analyze the effects of leadership on work-family spillovers. Specifically, we analyze the relationships between leadership (leader-member exchange, LMX) with one negative work-family spillover effect (work-family interference) and one positive

A haplotype of the norepinephrine transporter gene (SLC6A2) is associated with visual memory in attention-deficit/hyperactivity disorder.

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Shang, Chi-Yung; Chiang, Huey-Ling; Gau, Susan Shur-Fen

2015-04-03

Attention-deficit/hyperactivity disorder (ADHD) is a common heritable childhood-onset psychiatric disorder with impaired visual memory. Based on the evidence from treatment effect of atomoxetine, which interacts directly with the norepinephrine transporter, on visual memory in children with ADHD, this study examined the linkage disequilibrium structure of the norepinephrine transporter gene (SLC6A2) and the association between SLC6A2 and ADHD and visual memory, a promising endophenotype for ADHD. This family-based association sample consisted of 382 probands with DSM-IV ADHD and their family members (n=1298 in total) of Han Chinese in Taiwan. Visual memory was assessed by the Pattern Recognition Memory (PRM) and Spatial Recognition Memory (SRM) tasks of the Cambridge Neuropsychological Test Automated Battery (CANTAB). We screened 21 polymorphisms across SLC6A2 and used the Family-Based Association Test (FBAT) to test the associations of SLC6A2 polymorphisms with ADHD and the PRM and SRM measures. In haplotype analyses, a haplotype rs36011 (T)/rs1566652 (G) was significantly associated with ADHD (minimal p=0.045) after adjustment for multiple testing. In quantitative analyses, this TG haplotype also demonstrated significant associations with visual memory measures, including mean latency of correct responses in PRM (minimal p=0.019), total correct responses in PRM (minimal p=0.018), and total correct responses in SRM (minimal p=0.015). Our novel finding of the haplotype rs36011 (T)/rs1566652 (G) as a novel genetic marker involved in both ADHD disease susceptibility and visual memory suggests that allelic variations in SLC6A2 could provide insight into the pathways leading from genotype to phenotype of ADHD. Copyright © 2014 Elsevier Inc. All rights reserved.

The experiences of family members in the nursing home to hospital transfer decision

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Kathleen Abrahamson

2016-11-01

Full Text Available Abstract Background The objective of this study was to better understand the experiences of family members in the nursing home to hospital transfer decision making process. Semi-structured interviews were conducted with 20 family members who had recently been involved in a nursing home to hospital transfer decision. Results Family members perceived themselves to play an advocacy role in their resident’s care and interview themes clustered within three over-arching categories: Family perception of the nursing home’s capacity to provide medical care: Resident and family choices; and issues at ‘hand-off’ and the hospital. Multiple sub-themes were also identified. Conclusions Findings from this study contribute to knowledge surrounding the nursing home transfer decision by illuminating the experiences of family members in the transfer decision process.

Exploring the stigma related experiences of family members of ...

African Journals Online (AJOL)

The stigma of families is seen in the form of assignment of blame, social isolation and rejection. This stigma subsequently perpetuates a cycle of disability on the part of the patient and family. Purpose: To explore the stigma related experiences of family members of persons with mental illness in a selected community in the ...

Emotional disorders in pairs of patients and their family members during and after ICU stay.

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Renata Rego Lins Fumis

Full Text Available INTRODUCTION: Patients and family members undergo different experiences of suffering from emotional disorders during ICU stay and after ICU discharge. The purpose of this study was to compare the incidence of anxiety, depression and post-traumatic stress disorder (PTSD symptoms in pairs (patient and respective family member, during stay at an open visit ICU and at 30 and 90-days post-ICU discharge. We hypothesized that there was a positive correlation with the severity of symptoms among pairs and different patterns of suffering over time. METHODS: A prospective study was conducted in a 22-bed adult general ICU including patients with >48 hours stay. The Hospital Anxiety and Depression Scale (HADS was completed by the pairs (patients/respective family member. Interviews were made by phone at 30 and 90-days post-ICU discharge using the Impact of Event Scale (IES and the HADS. Multivariate models were constructed to predict IES score at 30 days for patients and family members. RESULTS: Four hundred and seventy one family members and 289 patients were interviewed in the ICU forming 184 pairs for analysis. Regarding HADS score, patients presented less symptoms than family members of patients who survived and who deceased at 30 and 90-days (p<0.001. However, family members of patients who deceased scored higher anxiety and depression symptoms (p = 0.048 at 90-days when compared with family members of patients who survived. Patients and family members at 30-days had a similar IES score, but it was higher in family members at 90-days (p = 0.019. For both family members and patients, age and symptoms of anxiety and depression during ICU were the major determinants for PTSD at 30-days. CONCLUSIONS: Anxiety, depression and PTSD symptoms were higher in family members than in the patients. Furthermore, these symptoms in family members persisted at 3 months, while they decreased in patients.

The impact of leader-member exchange (LMX) on work-family interference and work-family facilitation

OpenAIRE

Tummers, Lars; Bronkhorst, Babette

2014-01-01

markdownabstract__Abstract__ Purpose – We analyze the effects of leadership on work-family spillovers. Specifically, we analyze the relationships between leadership (leader-member exchange, LMX) with one negative work-family spillover effect (work-family interference) and one positive work-family spillover effect (work-family facilitation). We hypothesize that LMX influences work-family spillover via different mediators, rather than one all-encompassing mediator, such as empowerment. Design/m...

Congruence as a measurement of extended haplotype structure across the genome

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2012-01-01

Background Historically, extended haplotypes have been defined using only a few data points, such as alleles for several HLA genes in the MHC. High-density SNP data, and the increasing affordability of whole genome SNP typing, creates the opportunity to define higher resolution extended haplotypes. This drives the need for new tools that support quantification and visualization of extended haplotypes as defined by as many as 2000 SNPs. Confronted with high-density SNP data across the major histocompatibility complex (MHC) for 2,300 complete families, compiled by the Type 1 Diabetes Genetics Consortium (T1DGC), we developed software for studying extended haplotypes. Methods The software, called ExHap (Extended Haplotype), uses a similarity measurement we term congruence to identify and quantify long-range allele identity. Using ExHap, we analyzed congruence in both the T1DGC data and family-phased data from the International HapMap Project. Results Congruent chromosomes from the T1DGC data have between 96.5% and 99.9% allele identity over 1,818 SNPs spanning 2.64 megabases of the MHC (HLA-DRB1 to HLA-A). Thirty-three of 132 DQ-DR-B-A defined haplotype groups have > 50% congruent chromosomes in this region. For example, 92% of chromosomes within the DR3-B8-A1 haplotype are congruent from HLA-DRB1 to HLA-A (99.8% allele identity). We also applied ExHap to all 22 autosomes for both CEU and YRI cohorts from the International HapMap Project, identifying multiple candidate extended haplotypes. Conclusions Long-range congruence is not unique to the MHC region. Patterns of allele identity on phased chromosomes provide a simple, straightforward approach to visually and quantitatively inspect complex long-range structural patterns in the genome. Such patterns aid the biologist in appreciating genetic similarities and differences across cohorts, and can lead to hypothesis generation for subsequent studies. PMID:22369243

An audit of clinical service examining the uptake of genetic testing by at-risk family members.

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Forrest, Laura; Delatycki, Martin; Curnow, Lisette; Gen Couns, M; Skene, Loane; Aitken, Maryanne

2012-01-01

The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing.

Family Members as Third Parties in Dyadic Family Conflict: Strategies, Alliances, and Outcomes.

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Vuchinich, Samuel; And Others

1988-01-01

Analyzes conflicts of 52 families observed during dinner. Findings suggest that family members frequently joined dyadic conflicts, they were equally likely to attempt to end or continue conflicts, they formed alliances half of the time, and their intervention strategies were related to the patterning and outcome of the conflicts. (RJC)

Follow-Up Study to Family Members' Reactions to the Initial Special Education Meeting

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Ingalls, Lawrence; Hammond, Helen; Paez, Carlos; Rodriguez, Ivan

2016-01-01

Family involvement is a central component of Individuals with Disabilities Education Act (IDEA). Family members are to be integrated in all aspects of the special education process. At the onset, of family involvement, it is imperative for educators to be aware of possible reactions family members may experience in this initial stage. This…

NWHSS Implement Family Member Assessment Component in the Millennium Cohort Study

Science.gov (United States)

2012-10-01

Response and Referral Rates (McMaster) Panel 4 Impact of Cognitive Dissonance Improvement Strategies *Open Discussion* Family Improvement... Cognitive Dissonance (Via Effort Justification) Study  This pilot study utilized a random selection of married Panel 4 Millennium Cohort members taking...Spousal and family  functioning  Determine service member  factors that are associated  with spouse reports of  marital  satisfaction  and  family

The importance of older family members in providing social resources and promoting cancer screening in families with a hereditary cancer syndrome.

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Ashida, Sato; Hadley, Donald W; Goergen, Andrea F; Skapinsky, Kaley F; Devlin, Hillary C; Koehly, Laura M

2011-12-01

This study evaluates the role of older family members as providers of social resources within familial network systems affected by an inherited cancer susceptibility syndrome.  Respondents who previously participated in a study that involved genetic counseling and testing for Lynch syndrome and their family network members were invited to participate in a onetime telephone interview about family communication. A total of 206 respondents from 33 families identified 2,051 social relationships (dyads). Nineteen percent of the respondents and 25% of the network members were older (≥60 years). Younger respondents (≤59 years) were more likely to nominate older network members as providers of social resources than younger members: instrumental support (odds ratio [OR] = 1.68), emotional support (OR = 1.71), help in crisis situation (OR = 2.04), and dependability when needed (OR = 2.15). Compared with younger network members, older members were more likely to be listed as encouragers of colon cancer screening by both younger (OR = 3.40) and older respondents (OR = 1.90) independent of whether support exchange occurred in the relationship. Engaging older network members in health interventions to facilitate screening behaviors and emotional well-being of younger members within families affected by inherited conditions may be beneficial. Findings can be used to empower older individuals about their important social roles in enhancing the well-being of their family members and to inform younger individuals about their older relatives' resourcefulness to facilitate positive social interactions.

Witnesses to Transformation: Family Member Experiences Providing Individualized Music to Their Relatives with Dementia

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Johnston, Elizabeth; Rasmusson, Xeno; Foyil, Barbara; Shopland, Patricia

2017-01-01

Content analysis of 35 family members stories found that sharing individualized music enhanced memory, mood and provided interactive opportunities, where family members connected and communicated with relatives who had dementia. Technology supports a positive new role for family members, who often use MP3 players (e.g. iPods), headphones,…

Effects of cognitive-behavioral treatment for weight loss in family members.

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Rossini, Raffaella; Moscatiello, Simona; Tarrini, Giulietta; Di Domizio, Silvia; Soverini, Valentina; Romano, Andreina; Mazzotti, Arianna; Dalle Grave, Riccardo; Marchesini, Giulio

2011-11-01

The possibility that lifestyle changes may be shared by the family members of subjects with obesity attending cognitive-behavioral treatment (CBT) for weight loss has been scarcely evaluated. The purpose of this study was to measure the changes in body weight, lifestyle habits, and stage of change toward physical activity in the family members of 149 subjects with overweight/obesity enrolled into a weekly group CBT for weight management in the years 2007-2008. 230 adult (aged >18 years) family members (129 spouses, 72 children (43 female, 29 male), 29 with a different family relationship) completed a self-administered questionnaire at baseline and soon after the end of the completion of their relatives' program (approximately 6 months later). The questionnaire consisted of qualitative information regarding food choices, estimation of energy and food intake, self-report of height and weight, and motivation toward physical activity. At baseline, self-reported body mass index was normal in 115 cases, in the range 25 to 29.9 in 80 and ≥30 in 35. Following CBT of their relatives, the family members significantly reduced their average daily energy intake (-232 kcal/day; Pfood choices revealed a reduced average daily amount of energy from dressings (-40 kcal, Pbread (-58 kcal, P<0.001), breakfast biscuits (-23 kcal, P=0.005), chocolate (-7 kcal, P=0.024), and nonalcoholic beverages (fruit juices and carbonated drinks; -10 kcal; P=0.013), whereas fruit consumption was increased (+10 kcal; P=0.023). There was also a shift in the stage of change toward exercising. Body mass index changes of family members and CBT subjects were significantly correlated, mainly within spouses. In conclusion, CBT for weight loss positively influences the lifestyle habits of family members of participants, reducing energy intake and promoting a more favorable attitude toward physical activity. Copyright © 2011 American Dietetic Association. Published by Elsevier Inc. All rights reserved.

Members of FOX family could be drug targets of cancers.

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Wang, Jinhua; Li, Wan; Zhao, Ying; Kang, De; Fu, Weiqi; Zheng, Xiangjin; Pang, Xiaocong; Du, Guanhua

2018-01-01

FOX families play important roles in biological processes, including metabolism, development, differentiation, proliferation, apoptosis, migration, invasion and longevity. Here we are focusing on roles of FOX members in cancers, FOX members and drug resistance, FOX members and stem cells. Finally, FOX members as drug targets of cancer treatment were discussed. Future perspectives of FOXC1 research were described in the end. Copyright © 2017 Elsevier Inc. All rights reserved.

Quality of relationship between veterans with traumatic brain injury and their family members.

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Winter, Laraine; Moriarty, Helene J

2017-01-01

The quality of the relationship between patients with many illnesses and their family members has been shown to affect the well-being of both. Yet, relationship quality has not been studied in traumatic brain injury (TBI), and giving and receiving aspects have not been distinguished. The present study of veterans with TBI examined associations between relationship quality and caregiver burden, satisfaction with caregiving, and veterans' competence in interpersonal functioning, rated by veterans and family members. In this cross-sectional study, 83 veterans and their family members were interviewed at home. Measures of quality of relationship, veterans' interpersonal competence and sociodemographics were collected for both, caregiver burden and satisfaction for family members only. As predicted, veteran-rated Q rel /Giving was associated with family-rated Q rel /Receiving, and veteran-rated Q rel /Receiving with family-rated Q rel /Giving. Lower caregiver burden and higher caregiving satisfaction were associated with higher Q rel /Receiving scores but not with Q rel /Giving scores. Veterans' interpersonal competence was associated with total Q rel as rated by either veterans or family members. Relationship quality should be included in family research in TBI, and giving and receiving aspects should be differentiated. Findings suggest that lower caregiver burden and greater satisfaction should be more achievable by increasing caregivers' sense of benefits received from the relationship.

Positive family history of aortic dissection dramatically increases dissection risk in family members.

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Ma, Wei-Guo; Chou, Alan S; Mok, Salvior C M; Ziganshin, Bulat A; Charilaou, Paris; Zafar, Mohammad A; Sieller, Richard S; Tranquilli, Maryann; Rizzo, John A; Elefteriades, John A

2017-08-01

Although family members of patients with aortic dissection (AoD) are believed to be at higher risk of AoD, the prognostic value of family history (FH) of aortic dissection (FHAD) in family members of patients with AoD has not been studied rigorously. We seek examine how much a positive FHAD increases the risk of developing new aortic dissection (AoD) among first-degree relatives. Patients with AoD at our institution were analyzed for information of FHAD. Positive FHAD referred to that AoD occurred in index patient and one or more first-degree relatives. Negative FHAD was defined as the condition in which only one case of AoD (the index patient) occurred in the family. The age at AoD, exposure years in adulthood before AoD, and annual probability of AoD among first-degree relatives were compared between patients with negative and positive FHADs. FHAD was positive in 32 and negative in 68 among the 100 AoD patients with detailed family history information. Mean age at dissection was 59.9±14.7years. Compared to negative FHAD, patients with positive FHAD dissected at significantly younger age (54.7±16.8 vs 62.4±13.0years, p=0.013), had more AoD events in first-degree relatives (2.3±0.6 vs 1.0±0.0, pfamily members, with a higher annual probability of aortic dissection, a shorter duration of "exposure time" before dissection occurs and a lower mean age at time of dissection. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Impact of Family History Assessment on Communication with Family Members and Health Care Providers: A report from the Family Healthware™ Impact Trial (FHITr)

Science.gov (United States)

Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T.; O'Neill, Suzanne M.; Rubinstein, Wendy S.; Acheson, Louise S.

2015-01-01

Objective This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. Methods A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6 month follow-up, adjusting for age, site and practice clustering. Results A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (psfamily members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Conclusion Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. PMID:25901453

ICU versus Non-ICU Hospital Death: Family Member Complicated Grief, Posttraumatic Stress, and Depressive Symptoms.

Science.gov (United States)

Probst, Danielle R; Gustin, Jillian L; Goodman, Lauren F; Lorenz, Amanda; Wells-Di Gregorio, Sharla M

2016-04-01

Family members of patients who die in an ICU are at increased risk of psychological sequelae compared to those who experience a death in hospice. This study explored differences in rates and levels of complicated grief (CG), posttraumatic stress disorder (PTSD), and depression between family members of patients who died in an ICU versus a non-ICU hospital setting. Differences in family members' most distressing experiences at the patient's end of life were also explored. The study was an observational cohort. Subjects were next of kin of 121 patients who died at a large, Midwestern academic hospital; 77 died in the ICU. Family members completed measures of CG, PTSD, depression, and end-of-life experiences. Participants were primarily Caucasian (93%, N = 111), female (81%, N = 98), spouses (60%, N = 73) of the decedent, and were an average of nine months post-bereavement. Forty percent of family members met the Inventory of Complicated Grief CG cut-off, 31% met the Impact of Events Scale-Revised PTSD cut-off, and 51% met the Center for Epidemiologic Studies Depression Scale depression cut-off. There were no significant differences in rates or levels of CG, PTSD, or depressive symptoms reported by family members between hospital settings. Several distressing experiences were ranked highly by both groups, but each setting presented unique distressing experiences for family members. Psychological distress of family members did not differ by hospital setting, but the most distressing experiences encountered at end of life in each setting highlight potentially unique interventions to reduce distress post-bereavement for family members.

Grief elaboration in families with handicapped member.

Science.gov (United States)

Calandra, C; Finocchiaro, G; Raciti, L; Alberti, A

1992-01-01

Families with handicapped member seem to follow the same five stages (rejection and isolation, anger, dealing with the problem, depression, acceptance) of Kubler-Ross grief elaboration theory while dealing with the narcissistic wound of a handicapped child. Some of these families show a block in one of the stages. The effort of psychotherapy is to remove the block and let them reach the last stage. In this paper families under systemic psychotherapeutic treatment are analyzed, who had in common the birth of a child with low or modest invalidating signs and psychotic or autistic features. The families structure did not show the characteristics of a psychotic family. Nevertheless either one or both parents ignored the evidence of their child disease and they built a "disease-incongrous" wait around the child, trying to push away the painful reality. The authors explain the importance of this approach for the improvement of the autistic traits.

Perceptions of family members of palliative medicine and hospice patients who experienced music therapy.

Science.gov (United States)

Gallagher, Lisa M; Lagman, Ruth; Bates, Debbie; Edsall, Melissa; Eden, Patricia; Janaitis, Jessica; Rybicki, Lisa

2017-06-01

Evidence shows that music therapy aids in symptom management and improves quality of life for palliative medicine and hospice patients. The majority of previous studies have addressed patient needs, while only a few addressed the needs of family members. The primary purpose of this study was to understand family members' perceptions of music therapy experienced by a relative in palliative medicine or hospice. Patient self-reported scales and music therapist assessment of change were also investigated. Patients scored their symptoms (pain, anxiety, depression, shortness of breath, and mood) before and after music therapy sessions. One family member present during the session assessed perceived effect on the patient's pain, anxiety, depression, shortness of breath, stress level, restlessness, comfort level, mood, and quality of life. The effect on family member's stress level, quality of life, and mood and helpfulness of the music therapy session for the patient and self were studied. Recommendations about future patient participation in music therapy and qualitative comments were also solicited. Fifty family member/patient dyads participated in the study. Family member perceptions were positive, with 82% of responders indicating improvement for self and patient in stress, mood, and quality of life; 80% rating the session as extremely helpful; and 100% of 49 recommending further music therapy sessions for the patient. Patients reported statistically significant improvement in pain, depression, distress, and mood scores. Family members of patients in palliative medicine and hospice settings reported an immediate positive impact of music therapy on the patient and on themselves. More research needs to be conducted to better understand the benefits of music therapy for family members.

Effects of continued psychological care toward brain tumor patients and their family members' negative emotions.

Science.gov (United States)

Xiao, Ning; Zhu, Dan; Xiao, Shuiyuan

2018-01-01

Numerous studies have confirmed that brain tumor patients and their family members frequently exhibit negative emotional reactions, such as anxiety and depression, during diagnosis and treatment of the disease. Family members experience increasing pressure as the year of survival of patient progress. The aim of this study was to investigate the effects of the continued psychological care (CPC) toward the brain tumor patients and their family members' emotions. The asynchronous clinical control trial was performed, and 162 brain tumor patients and their family members were divided into the control group and the intervention group. The control group was only performed the telephone follow-up toward the patients. Beside this way, the intervention group was performed the CPC toward the patients and their family member. The self-rating anxiety scale (SAS) and the self-rating depression scale (SDS) were used to measure the negative emotions of the patients and their family members, and the patients' treatment compliance and the incidence of seizures were compared. The SAS and SDS scores of the intervention group on the 14 days, 28 days and 3 months of the CPC were significantly lower than the control group (P family members.

Death at the Worksite: Helping Grieving Family Members

Science.gov (United States)

... Grief at Work Working Through Grief About Us Death at the Worksite: Helping Grieving Family Members By ... fatal heart attacks occur in the workplace. Other deaths — from accidents, for example — can also happen during ...

Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.

Science.gov (United States)

Shamash, Jana; Rienstein, Shlomit; Wolf-Reznik, Haike; Pras, Elon; Dekel, Michal; Litmanovitch, Talia; Brengauz, Masha; Goldman, Boleslav; Yonath, Hagith; Dor, Jehoshua; Levron, Jacob; Aviram-Goldring, Ayala

2011-01-01

Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation. Polymorphic markers were used to identify and differentiate between the alleles that carry the translocation and those that are the normal homologous chromosomes. Embryos from two families of robertsonian translocation carriers were successfully analyzed using polymorphic markers haplotyping. Our preliminary results indicate that the PGH is capable of distinguishing between normal, balanced and unbalanced translocation carrier embryos. This method will improve PGD and will enable translocation carriers to avoid transmission of the translocation and the associated medical complications to offspring.

Insider Research with Family Members who have a Member Living with Rare Cancer

Directory of Open Access Journals (Sweden)

Jan Foster PhD

2009-12-01

Full Text Available In this article the author explores insider research in relation to family members facing a diagnosis of rare cancer, using her experiences as one such family member undertaking doctoral research into journeys similar to hers. The “insider” issue is explored through three realms: the ethical realm, including issues of “fitness” to undertake the research; the methodological realm, including how data are obtained and used; and the trustworthiness realm, including research rigor. The exploration of her insider experiences includes personal challenges in relation to facing familiar emotionally charged experiences, insights gained as a result of her insider status, and her ability to join with participants in ways that might not be possible for an outsider. In the paper the author challenges taken-for-granted assumptions that trustworthiness can be assured only from the position of “objective” researcher. Rather, this analysis places knowledge gained through the processes and products of research as constituted and contextualized.

Experiences of the families concerning organ donation of a family member with brain death.

Science.gov (United States)

Yousefi, Hojatollah; Roshani, Asieh; Nazari, Fatemeh

2014-05-01

In recent years, the lack of organ for transplantation has resulted in health planners and authorities in all countries, including Iran, paying serious attention to the issue. Despite the above-mentioned fact, families with a member affected by brain death are not interested in organ donation. This study is aimed at making an investigation into the decision-making process of organ donation in families with brain death. Also, the research is aimed at investigating how the deterrent and facilitating factors in the process of organ donation can be made. The current research is a qualitative study with descriptive exploratory approach. Data were collected through unstructured interviews with 10 family members who gave consent to organ donation of their family members in 2012. Purposeful sampling processes began in March 2012 and lasted up to June 2012. Simultaneously, thematic approach was used in analyzing the data. Data analysis led to finding 24 categories and 11 themes, which fell into two categories: facilitating and deterrent factors. The five main deterrent themes included the five themes of prohibiting factors that were shock, hope for recovery, unknown process, and conflict of opinions, and worrying association. The six main facilitating themes included humanistic desires, immortality, culture making, satisfaction of the deceased, assurance, and eternal honor. The findings indicated that there is ambiguity and different interpretations on brain death. The research also showed that using the experiences of donator families can provide practical and applied solutions to facilitate the process of organ donation and solve the problems faced by the health care system.

Being a close family member of a person with dementia living in a nursing home.

Science.gov (United States)

Seiger Cronfalk, Berit; Ternestedt, Britt-Marie; Norberg, Astrid

2017-11-01

To illuminate how family members of persons with dementia describe their own experiences, before and after placing their relative in a nursing home. In the Western world and with a growing population of older people, the number of persons with dementia increases. Family members often become carers in their own homes creating stressful and exhausting situation that eventually leads to relocating the person to a nursing home. This may lead to troubled conscience among family members. This is a qualitative study with descriptive design based on interviews with ten family members to residents with dementia at one small nursing home ward. Data were analysed using content analysis. Five categories were derived from data: relocating a person with dementia - a responsibility; visiting the resident - a relief or a burden; the participants taking part in and monitoring the residents' care needs; participants meeting their own needs; and thoughts about the future and resident's death. The result shows both positive and negative aspects of being a family member to persons with dementia. Family members described feeling relief as well as having a troubled conscience when placing a relative in a nursing home. They held themselves responsible for monitoring and evaluating the quality of the care. Family members expressed fearing a slow death for the person with dementia as well as for their own sake. Most felt well treated by the staff. Family members were responsible for relocating the residents to the nursing home. This in itself was found to cause feelings of moral concerns and generating troubled conscience. Staff at nursing homes needs to exercise family-centred care to benefit the persons with dementia, their family members and the staff themselves. © 2017 John Wiley & Sons Ltd.

The needs of patient family members in the intensive care unit in ...

African Journals Online (AJOL)

Background. The admission of a relative to an intensive care unit (ICU) is a stressful experience for family members. There has been limited research addressing this issue in Kigali, Rwanda. Objective. To explore the needs of patient family members admitted into an ICU in Kigali, Rwanda. Methods. This study used a ...

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ p.Thr124Met mutation shares the Belgian haplotype

Directory of Open Access Journals (Sweden)

Alejandro Leal

2014-12-01

Full Text Available The p.Thr124Met mutation in the myelin protein zero (MPZ causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch, the founder effect hypothesis for this allele migration is suggestive. Rev. Biol. Trop. 62 (4: 1285-1293. Epub 2014 December 01.

The needs of patient family members in the intensive care unit in Kigali Rwanda

Directory of Open Access Journals (Sweden)

Petra Brysiewicz

2014-07-01

Full Text Available Background. The admission of a relative to an intensive care unit (ICU is a stressful experience for family members. There has been limited research addressing this issue in Kigali, Rwanda.Objective. To explore the needs of patient family members admitted into an ICU in Kigali, Rwanda.Methods. This study used a quantitative exploratory design focused on exploring the needs of patient family members in ICU at one hospital in Kigali, Rwanda. Family members (N=40 were recruited using the convenience sampling strategy. The Critical Care Family Needs Inventory was used to collect relevant data.Results. The participants identified various needs to be met for the family during the patient’s admission in ICU. The most important was the need for assurance, followed by the need for comfort, information, proximity and lastly support. Three additional needs specific to this sample group were also identified, related to resource constraints present in the hospital where the study was carried out.Conclusion. These results offer insight for nurses and other healthcare professionals as to what the important needs are that must be considered for the patient family members in ICUs within a resource-constrained environment.

Family members' informal roles in end-of-life decision making in adult intensive care units.

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Quinn, Jill R; Schmitt, Madeline; Baggs, Judith Gedney; Norton, Sally A; Dombeck, Mary T; Sellers, Craig R

2012-01-01

To support the process of effective family decision making, it is important to recognize and understand informal roles that various family members may play in the end-of-life decision-making process. To describe some informal roles consistently enacted by family members involved in the process of end-of-life decision making in intensive care units. Ethnographic study. Data were collected via participant observation with field notes and semistructured interviews on 4 intensive care units in an academic health center in the mid-Atlantic United States from 2001 to 2004. The units studied were a medical, a surgical, a burn and trauma, and a cardiovascular intensive care unit. Health care clinicians, patients, and family members. Informal roles for family members consistently observed were primary caregiver, primary decision maker, family spokesperson, out-of-towner, patient's wishes expert, protector, vulnerable member, and health care expert. The identified informal roles were part of families' decision-making processes, and each role was part of a potentially complicated family dynamic for end-of-life decision making within the family system and between the family and health care domains. These informal roles reflect the diverse responses to demands for family decision making in what is usually a novel and stressful situation. Identification and description of these informal roles of family members can help clinicians recognize and understand the functions of these roles in families' decision making at the end of life and guide development of strategies to support and facilitate increased effectiveness of family discussions and decision-making processes.

29 CFR 825.124 - Needed to care for a family member or covered servicemember.

Science.gov (United States)

2010-07-01

..., DEPARTMENT OF LABOR OTHER LAWS THE FAMILY AND MEDICAL LEAVE ACT OF 1993 Coverage Under the Family and Medical Leave Act § 825.124 Needed to care for a family member or covered servicemember. (a) The medical... serious health condition, the family member is unable to care for his or her own basic medical, hygienic...

Female children with incarcerated adult family members at risk for life-long neurological decline

OpenAIRE

Brewer-Smyth, Kathleen; Pohlig, Ryan T.; Bucurescu, Gabriel

2016-01-01

A secondary analysis of data from adult female prison inmates in the mid-Atlantic United States defined relationships between having incarcerated adult family members during childhood and neurological outcomes. Of 135 inmates, 99(73%) had one or more incarcerated adult family members during childhood. Regression analyses revealed that having incarcerated adult family members was related to greater frequency and severity of childhood abuse and higher incidence of neurological deficits in adult...

A possibility for strengthening family life and health: Family members' lived experience when a sick child receives home care in Sweden.

Science.gov (United States)

Castor, Charlotte; Landgren, Kajsa; Hansson, Helena; Kristensson Hallström, Inger

2018-03-01

Families often prefer home care to hospital care, and home-care services for ill children are increasing worldwide with limited knowledge of families' needs during curative and palliative home care. The aim of this study was to elucidate family members' lived experience when a sick child received home care from county-based primary healthcare services. A descriptive qualitative design was chosen and 12 families including sick children receiving home care and their mothers, fathers and siblings in the south of Sweden were interviewed between December 2015 and January 2017. The transcribed interviews were analysed using a hermeneutic phenomenological approach. The family members' lived experience was described in three essential themes: "Strengthening family life" relates to how home care induced freedom and luxury in a strained period of life and supported the families' everyday life. Usual social activities and relations were maintained as time and energy was saved when receiving home care. "Promoting health" relates to how the family members' burden of illness decreased as the child's signs of illness alleviated and the well-being of the whole family increased when the child received care in the home. This provided a peaceful respite for family members' psychosocial recovery. The third theme, "Creating alliances," relates to the importance of creating trustful alliances for communicating participation in care. If trustful alliances were not created, parents felt an overwhelming responsibility and family members became anxious. The findings suggest that care in the family's home is a useful complement to hospital care. Home care should be given with close attention to family members' needs and conditions, as positive effects of home care might be jeopardised when expectations and possibilities are not successfully shared. © 2017 The Authors. Health and Social Care in the Community Published by John Wiley & Sons Ltd.

Resident and family member perceptions of cultural diversity in aged care homes.

Science.gov (United States)

Xiao, Lily Dongxia; Willis, Eileen; Harrington, Ann; Gillham, David; De Bellis, Anita; Morey, Wendy; Jeffers, Lesley

2017-03-01

Similar to many developed nations, older people living in residential aged care homes in Australia and the staff who care for them have become increasingly multicultural. This cultural diversity adds challenges for residents in adapting to the care home. This study explores: (i) residents' and family members' perceptions about staff and cultural diversity, and (ii) culturally and linguistically diverse residents' and family members' experiences. An interpretive study design employing a thematic analysis was applied. Twenty-three residents and seven family members participated in interviews. Four themes were identified from interpreting residents and family members' perceptions of the impact of cultural diversity on their adaptation to aged care homes: (i) perceiving diversity as an attraction; (ii) adapting to cross-cultural communication; (iii) adjusting to diet in the residential care home; and (iv) anticipating individualized psychosocial interactions. The findings have implications for identifying strategies to support staff from all cultural backgrounds in order to create a caring environment that facilitates positive relationships with residents and supports residents to adjust to the care home. © 2016 John Wiley & Sons Australia, Ltd.

Experience and needs of family members of patients treated with extracorporeal membrane oxygenation.

Science.gov (United States)

Tramm, Ralph; Ilic, Dragan; Murphy, Kerry; Sheldrake, Jayne; Pellegrino, Vincent; Hodgson, Carol

2017-06-01

To explore the experiences of family members of patients treated with extracorporeal membrane oxygenation. Sudden onset of an unexpected and severe illness is associated with an increased stress experience of family members. Only one study to date has explored the experience of family members of patients who are at high risk of dying and treated with extracorporeal membrane oxygenation. A qualitative descriptive research design was used. A total of 10 family members of patients treated with extracorporeal membrane oxygenation were recruited through a convenient sampling approach. Data were collected using open-ended semi-structured interviews. A six-step process was applied to analyse the data thematically. Four criteria were employed to evaluate methodological rigour. Family members of extracorporeal membrane oxygenation patients experienced psychological distress and strain during and after admission. Five main themes (Going Downhill, Intensive Care Unit Stress and Stressors, Carousel of Roles, Today and Advice) were identified. These themes were explored from the four roles of the Carousel of Roles theme (decision-maker, carer, manager and recorder) that participants experienced. Nurses and other staff involved in the care of extracorporeal membrane oxygenation patients must pay attention to individual needs of the family and activate all available support systems to help them cope with stress and strain. An information and recommendation guide for families and staff caring for extracorporeal membrane oxygenation patients was developed and needs to be applied cautiously to the individual clinical setting. © 2016 John Wiley & Sons Ltd.

Radiation dose to family members of hyperthyroidism and thyroid cancer patients treated with 131I

International Nuclear Information System (INIS)

Pant, G. S.; Sharma, S. K.; Bal, C. S.; Kumar, R.; Rath, G. K.

2006-01-01

The thermoluminescence dosemeter (TLD) was used for measuring radiation dose to family members of thyrotoxicosis and thyroid cancer patients treated with 131 I using CaSO 4 :Dy discs. There were 45 family members of thyrotoxicosis patients, who were divided into two groups with 22 in the first and 23 in the second group. Radiation safety instructions were the same for both the groups except in the second group where the patients were advised to use a separate bed at home for the first 3 d of dose administration. An activity ranging from 185 to 500 MBq was administered to these patients. The whole-body dose to family members ranged from 0.4 to 2.4 mSv (mean 1.1 mSv) in the first group and 0-1.9 mSv (mean 0.6 mSv) in the second group. A total of 297 family members of thyroid cancer patients were studied for whole-body dose estimation. An activity ranging from 0.925 to 7.4 GBq was administered to the thyroid cancer patients. The family members were divided into three groups depending upon the mode of transport and facilities available at home to avoid close proximity with the patient. Group A with 25 family members received a dose ranging from 0 to 0.9 mSv (mean 0.4 mSv), group B with 96 family members received a dose ranging from 0 to 8.5 mSv (mean 0.8 mSv) and group C with 176 family members received a dose ranging from 0 to 5.0 mSv (mean 0.8 mSv). The thyroid monitoring was also done in 103 family members who attended the patients in isolation wards for >2 d. Thyroid dose in them ranged from 0 to 2.5 mGy (mean 0.1 mGy). (authors)

Psychiatric worker and family members: pathways towards co-operation networks within psychiatric assistance services

Directory of Open Access Journals (Sweden)

Silvia Carbone

2014-03-01

Full Text Available The family’s role in patient care was greatly altered by Law 180. This law, introduced in Italy in 1978, led to a gradual phasing out of custodial treatment for psychiatric patients. This different mindset, which views the family as an alternative to institutionalization, leads to it being seen as an essential entity in the setting up of community service dynamics. We interviewed health professionals in order to understand obstacles of collaboration between family members and mental health care workers. The goal was to uncover actions that promote collaboration and help build alliances between families and psychiatric workers. Results showed that health professionals view the family as a therapeutic resource. Despite this view, family members were rarely included in patient treatment. The reasons is: the structures have a theoretical orientation of collaboration with the family but, for nurses not are organized a few meeting spaces with family members. Services should create moments, such as multi-family groups or groups of information, managed by nurses and not only by doctors. These occasions it might facilitate the knowledge between professionals and family members.

Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).

Science.gov (United States)

Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T; O'Neill, Suzanne M; Rubinstein, Wendy S; Acheson, Louise S

2015-08-01

This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p'scommunicating at baseline and those who were not. Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. Copyright © 2015 Elsevier Inc. All rights reserved.

Support needs and experiences of family members of wounded, injured or sick UK service personnel.

Science.gov (United States)

Verey, Anna; Keeling, M; Thandi, G; Stevelink, S; Fear, N

2017-12-01

When a service person has been wounded, injured or sick (WIS), family members may provide care during their recovery in an unpaid capacity. This may occur in diverse environments including hospitals, inpatient rehabilitation centres, in the community and at home. Thirty-seven family members of WIS personnel were interviewed regarding their support needs, family relationships and use of UK support services. Semistructured, in-depth telephone interviews were used, with data analysis undertaken using a thematic approach. 'Family member involvement' was the main theme under which four subthemes were situated: 'continuity of support', 'proactive signposting and initiating contact', 'psychoeducation and counselling' and 'higher risk groups'. Family members felt they might benefit from direct, consistent and continuous care regardless of the WIS person's injury or engagement type, and whether the WIS person was being treated in a hospital, rehabilitative centre or at home. The findings of this study suggest that family members of WIS personnel value proactive, direct and sustained communication from support service providers. We suggest that families of UK service personnel may benefit from family care coordinators, who could provide continuous and consistent care to family members of WIS personnel. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

Science.gov (United States)

Janin, N; Andrieu, N; Ossian, K; Laugé, A; Croquette, M-F; Griscelli, C; Debré, M; Bressac-de-Paillerets, B; Aurias, A; Stoppa-Lyonnet, D

1999-01-01

Epidemiological studies in ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially breast cancer (BC) in women. It has also been suggested that an increased sensibility of AT heterozygotes to the effect of ionizing radiation could be responsible for the increased BC risk. BC relative risk (RR) estimation in AT heterozygotes within families ascertained through AT children is presented here. Family data collected included demographic characteristics, occurrence of cancers, past radiation exposures and blood samples. DNA samples were studied using seven ATM linked microsatellites markers allowing AT haplotypes reconstitution. The relative risk of BC was assessed using French estimated incidence rates. A significant increase risk of BC is found among obligate ATM heterozygotes with a point estimate of 3.32 (P = 0.002). BC relative risk calculated according to age is significantly increased among the obligate ATM heterozygotes female relatives with an age ≤ 44 years (RR = 4.55, P = 0.005). The BC relative risk is statistically borderline among the obligate ATM heterozygote female relatives with an age ≥ 45 years (RR = 2.48, P = 0.08). The estimated BC relative risk among ATM heterozygotes is consistent with previously published data. However, the increased risk is only a little higher than classical reproductive risk factors and similar to the risk associated with a first-degree relative affected by BC. © 1999 Cancer Research Campaign PMID:10362113

Hope: A further dimension for engaging family members of people with ABI.

Science.gov (United States)

Kuipers, Pim; Doig, Emmah; Kendall, Melissa; Turner, Ben; Mitchell, Marion; Fleming, Jennifer

2014-01-01

Family member engagement is increasingly recognised as an influential factor in the rehabilitation continuum following Acquired Brain Injury, including the inpatient setting and longer-term community integration phases. To explore the experiences of patients and family members about their involvement in brain injury rehabilitation. This study comprised individual and group interviews with 14 ex-patients and family members. Interviews explored effects of inpatient rehabilitation on family relationships. Interview audio recordings were analysed using an interpretive approach by two independent researchers. Findings clearly confirmed the significance of engaging family members in inpatient rehabilitation, and specifically reinforced the importance of informational, emotional, practical and peer support. However, the key finding of the study was the importance of hope, and the need for rehabilitation professionals to foster hope. Despite not having included any questions on this topic, all interviewees noted the importance of hope, some saw it as fundamental to positive outcomes, and many were unconvinced of rehabilitation professionals' concern to avoid false hope. Various dimensions of hope are explored. The study notes that hope has been identified as highly important in many areas beyond brain injury rehabilitation. Based on this small preliminary study, the issue of hope is seen as a key focus for future research.

Targeted cardiopulmonary resuscitation training focused on the family members of high-risk patients at a regional medical center: A comparison between family members of high-risk and no-risk patients.

Science.gov (United States)

Han, Kap Su; Lee, Ji Sung; Kim, Su Jin; Lee, Sung Woo

2018-05-01

We developed a hospital-based cardiopulmonary resuscitation (CPR) training model focused on the target population (family members of patients with potential risks for cardiac arrest) and compared the outcome of CPR training between target and non-target populations for validity. Family members of patients in training were divided into three groups on the basis of patients' diseases, as follows: 1) the cardio-specific (CS) risk group, including family members of patients with cardiac disease at risk of cardiac arrest; 2) the cardiovascular (CV) risk group, including family members of patients with risk factors for cardiovascular disease; and 3) the no-risk group. Pre- and posttraining surveys and skill tests as well as a post-training 3-month telephone survey were conducted. Educational outcomes were analyzed. A total of 203 family members were enrolled into 21 CPR training classes. The CS group (n=88) included elderly persons and housewives with a lower level of education compared with the CV (n=79) and no-risk groups (n=36). The CS group was motivated by healthcare professionals and participated in the training course. The CS, CV, and no-risk groups showed improvements in knowledge, willingness to perform CPR, and skills. Despite the older age and lower level of education in the CS group, the effects of education were similar to those in the other groups. A high rate of response and secondary propagation of CPR training were observed in the CS group. Family members of patients with heart disease could be an appropriate target population for CPR training, particularly in terms of recruitment and secondary propagation. Targeted intervention may be an effective training strategy to improve bystander CPR rates.

Experiences of the families concerning organ donation of a family member with brain death

Science.gov (United States)

Yousefi, Hojatollah; Roshani, Asieh; Nazari, Fatemeh

2014-01-01

Background: In recent years, the lack of organ for transplantation has resulted in health planners and authorities in all countries, including Iran, paying serious attention to the issue. Despite the above-mentioned fact, families with a member affected by brain death are not interested in organ donation. Objective: This study is aimed at making an investigation into the decision-making process of organ donation in families with brain death. Also, the research is aimed at investigating how the deterrent and facilitating factors in the process of organ donation can be made. Materials and Methods: The current research is a qualitative study with descriptive exploratory approach. Data were collected through unstructured interviews with 10 family members who gave consent to organ donation of their family members in 2012. Purposeful sampling processes began in March 2012 and lasted up to June 2012. Simultaneously, thematic approach was used in analyzing the data. Results: Data analysis led to finding 24 categories and 11 themes, which fell into two categories: facilitating and deterrent factors. The five main deterrent themes included the five themes of prohibiting factors that were shock, hope for recovery, unknown process, and conflict of opinions, and worrying association. The six main facilitating themes included humanistic desires, immortality, culture making, satisfaction of the deceased, assurance, and eternal honor. Conclusion: The findings indicated that there is ambiguity and different interpretations on brain death. The research also showed that using the experiences of donator families can provide practical and applied solutions to facilitate the process of organ donation and solve the problems faced by the health care system. PMID:24949074

Caring for a family member with intellectual disability and epilepsy: practical, social and emotional perspectives.

Science.gov (United States)

Thompson, Rose; Kerr, Mike; Glynn, Mike; Linehan, Christine

2014-11-01

To examine the caregiving impact of those who support a family member with intellectual disability and epilepsy. An online, qualitative international survey was conducted via the auspices of the International Bureau of Epilepsy with various stakeholders who support individuals who have intellectual disability and epilepsy. Qualitative comments were analyzed from respondents who identified themselves as family members (n=48; 36%) who referred specifically to the impact of supporting a family member with these combined disabilities. Four main domains, which were comprised of ten themes, were derived from the qualitative data using Braun and Clarke's qualitative framework. These domains comprised (1) practical concerns, (2) disrupted family dynamics, (3) emotional burden and (4) positive experiences. In combination these themes illustrate the pervasive impact on family life for those supporting an individual with complex needs. Financial concerns, coordination and responsibility of care, diverted attention from other family members and social isolation all contributed a significant burden of care for family members. Positive aspects were, however, also cited including the closeness of the family unit and a fostering of altruistic behavior. The study provides an insight into an under-researched area. The burden of caring for a family member across the lifespan has a largely negative and pervasive impact. Targeted service provision could contribute to an amelioration of the challenges faced by these families. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Complex Determinants in Specific Members of the Mannose Receptor Family Govern Collagen Endocytosis

DEFF Research Database (Denmark)

Jürgensen, Henrik J; Johansson, Kristina; Madsen, Daniel H

2014-01-01

Members of the well-conserved mannose receptor (MR) protein family have been functionally implicated in diverse biological and pathological processes. Importantly, a proposed common function is the internalization of collagen for intracellular degradation occurring during bone development, cancer...... invasion, and fibrosis protection. This functional relationship is suggested by a common endocytic capability and a candidate collagen-binding domain. Here we conducted a comparative investigation of each member's ability to facilitate intracellular collagen degradation. As expected, the family members u......PARAP/Endo180 and MR bound collagens in a purified system and internalized collagens for degradation in cellular settings. In contrast, the remaining family members, PLA2R and DEC-205, showed no collagen binding activity and were unable to mediate collagen internalization. To pinpoint the structural elements...

A follow-up meeting post death is appreciated by family members of deceased patients.

Science.gov (United States)

Kock, M; Berntsson, C; Bengtsson, A

2014-08-01

A practice with a follow-up meeting post death (FUMPD) with physician and staff for family members of patients who died in the intensive care unit (ICU) was started as a quality project to improve the support of families in post-ICU bereavement. A quality improvement control was conducted after 4 years. The quality improvement control was made retrospectively as an anonymous non-coded questionnaire. Part A related to the FUMPD. Part B inquired if we could contact the family member again for a research project to evaluate family support post-ICU bereavement. The questionnaires were sent to 84 family members of 56 deceased patients. Part A: 46 out of 84 family members answered and had attended a FUMPD. Ninety-one percent of the family members thought that we should continue to offer FUMPD. Seventy-eight percent were satisfied with their meeting. Eighty percent felt that they understood the cause of death. The majority wanted the meeting to take place within 6 weeks of death. Ninety-one percent rated the physician as important to be present at the meeting. The social worker was rated more important to attend the meeting than the assistant nurse. Ninety-one percent wanted to discuss the cause of death.Part B: 54 out of 84 family members answered. Twenty out of 54 did not want us to contact them again. A routine with a Follow-Up Meeting Post Death with the ICU team for the families of the patients who die in the ICU is appreciated. The presence of the physician is important. © 2014 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

Population-specific haplotype association of the postsynaptic density gene DLG4 with schizophrenia, in family-based association studies.

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Shabeesh Balan

Full Text Available The post-synaptic density (PSD of glutamatergic synapses harbors a multitude of proteins critical for maintaining synaptic dynamics. Alteration of protein expression levels in this matrix is a marked phenomenon of neuropsychiatric disorders including schizophrenia, where cognitive functions are impaired. To investigate the genetic relationship of genes expressed in the PSD with schizophrenia, a family-based association analysis of genetic variants in PSD genes such as DLG4, DLG1, PICK1 and MDM2, was performed, using Japanese samples (124 pedigrees, n = 376 subjects. Results showed a significant association of the rs17203281 variant from the DLG4 gene, with preferential transmission of the C allele (p = 0.02, although significance disappeared after correction for multiple testing. Replication analysis of this variant, found no association in a Chinese schizophrenia cohort (293 pedigrees, n = 1163 subjects or in a Japanese case-control sample (n = 4182 subjects. The DLG4 expression levels between postmortem brain samples from schizophrenia patients showed no significant changes from controls. Interestingly, a five marker haplotype in DLG4, involving rs2242449, rs17203281, rs390200, rs222853 and rs222837, was enriched in a population specific manner, where the sequences A-C-C-C-A and G-C-C-C-A accumulated in Japanese (p = 0.0009 and Chinese (p = 0.0007 schizophrenia pedigree samples, respectively. However, this could not be replicated in case-control samples. None of the variants in other examined candidate genes showed any significant association in these samples. The current study highlights a putative role for DLG4 in schizophrenia pathogenesis, evidenced by haplotype association, and warrants further dense screening for variants within these haplotypes.

Stress and Depressive Symptoms in Cancer Survivors and Their Family Members: Korea Community Health Survey, 2012.

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Han, Mi Ah

2017-09-01

This study examined the prevalence of perceived stress and depressive symptoms in cancer survivors and their family members compared with subjects without cancer and without family members with cancer. The subjects of this cross-sectional study were adults ≥19 years old who participated in the 2012 Korea Community Health Survey. Stress and depressive symptoms in cancer survivors and their family members were assessed and compared to symptoms in control groups by chi-square tests and multiple logistic regression analyses. Of the 6783 cancer survivors, 26.9% and 8.7% reported having stress and depressive symptoms, respectively, and 27.7% and 5.9% of family members of cancer survivors reported having stress and depressive symptoms, respectively. Cancer survivors showed higher adjusted odds ratio (aOR) for stress (aOR = 1.26, 95% confidence interval (CI) = 1.16-1.37) and depressive symptoms (aOR = 1.82, 95% CI = 1.57-2.11) than subjects without cancer history. Family members of cancer survivors showed a higher OR for stress and depressive symptoms than subjects without a family member who survived cancer. Cancer survivors and family members of cancer survivors had more stress and depressive symptoms than controls. Careful management for cancer patients and their family members should include screening for stress and depression to improve mental health associated with cancer survivorship.

Family members' experience of the pre-diagnostic phase of dementia: a synthesis of qualitative evidence.

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Rogers, Kirrily; Coleman, Honor; Brodtmann, Amy; Darby, David; Anderson, Vicki

2017-09-01

Most research on family members' experience of dementia has focused on the time after diagnosis. Yet, once people reach clinical attention, families have already been living with the changes for some time. These pre-diagnosis experiences can influence later caregiving. We aimed to synthesize qualitative research exploring family members' experiences of the pre-diagnostic phase of dementia to inform clinical practice. We conducted a thematic synthesis of 11 studies that met our inclusion criteria following a comprehensive literature search. An overarching theme, sense-making, captured the primary process that family members engage in throughout the pre-diagnostic period. Within this, four major analytic themes were extracted as central concepts in understanding family members' experiences of the pre-diagnostic phase of dementia: the nature of change; appraisals of change; reactions to change; and the influence of others. Relevant features of the family experience of dementia onset can be characterized within several major themes. These findings highlight the complex process of recognizing early symptoms of dementia for people living with this condition and their families. Our findings also provide the foundation for developing theoretical frameworks that will ultimately assist with improving recognition of dementia onset, clinical communication with family members, and interventions to reduce family burden.

A survey of family members' satisfaction with the services provided by hospice palliative care volunteers.

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Claxton-Oldfield, Stephen; Gosselin, Natasha; Schmidt-Chamberlain, Kirsten; Claxton-Oldfield, Jane

2010-05-01

A total of 22 family members, whose deceased loved ones had used the services of a hospice palliative care volunteer, responded to a brief survey designed to assess the importance of the different kinds of support offered to them (family members) by the volunteer, their impressions of the volunteers' personal qualities/characteristics, their general experiences with the volunteer, and their overall satisfaction with the volunteer services. The kind of support that received the highest importance rating from family members was the opportunity to take a much-needed break from the demands of caring for their loved one, closely followed by emotional support, the volunteer spending time with them, and the volunteer providing them with information. Family members rated volunteers highly on a list of qualities/characteristics that exemplify individuals who are effective in this role. In all, 85% of the family members felt that their volunteer was well trained and 95% did not feel that their or their loved one's privacy had been invaded by having a volunteer. Overall, family members were very satisfied with the volunteer support they received. Some limitations of the study are discussed.

Perception of family emotional climate by family members of persons with schizophrenia.

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Gandhi, Sailaxmi; Pavalur, Rajitha; Thirthalli, Jagadisha; Phillip, Mariamma

2016-08-01

There is a dearth of instruments to assess schizophrenia persons' Family Emotional Climate (FEC). This study aims to explore the relation between family members' personality traits and FEC. We invited a convenience sample of 50 both gender family members who were accompanying the person with schizophrenia for out-patient department (OPD) consultation to provide data on a socio-demographic proforma and the researcher prepared 'Emotional climate assessment questionnaire - caregivers' version' (ECAQ-C) as well as the Eysenck personality questionnaire. Caregivers' extroversion traits (r = .427, p = .002) were positively correlated and neuroticism traits were negatively correlated (r = -.330, p = .019) with their positive perception of FEC. There was a higher perception of positive FEC (mean scores = 65.5 ± 10.5) while caregivers seemed to perceive less negative FEC (mean scores = 36.5 ± 10.2). Caregivers with education above 11th std perceived less (χ(2) = 8.6, p = .013) of negative FEC. The findings highlight that caregivers' personality traits seem to influence the FEC. While caregivers' perception of FEC is positive in this study, those in the higher education group seem to have a better perception of FEC indicating that education also may influence FEC. © The Author(s) 2016.

Patients' and family members' views on patient-centered communication during cancer care.

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Mazor, Kathleen M; Beard, Reneé L; Alexander, Gwen L; Arora, Neeraj K; Firneno, Cassandra; Gaglio, Bridget; Greene, Sarah M; Lemay, Celeste A; Robinson, Brandi E; Roblin, Douglas W; Walsh, Kathleen; Street, Richard L; Gallagher, Thomas H

2013-11-01

To explore patients' and family members' views on communication during cancer care and to identify those aspects of clinician-patient communication which were most important to patients and family members. We conducted a secondary data analysis of qualitative data from 137 patients with cancer and family members of patients with cancer. We used a modified version of the constant comparative method and coding paradigm of grounded theory. Patients want sensitive, caring clinicians who provide information that they need, when they need it, in a way that they can understand; who listen and respond to questions and concerns, and who attempt to understand the patient's experience. Effective information exchange and a positive interpersonal relationship with the clinician were of fundamental importance to patients and family members. These were interrelated; for instance, failure to provide information a patient needed could damage the relationship, whereas excellent listening could foster the relationship. Information exchange and relationship were also integral to decision-making, managing uncertainty, responding to emotions, and self-management. Clinicians who were responsive to patients' needs beyond the immediate medical encounter were valued. The complexity of cancer care today suggests that efforts to improve communication must be multilevel, acknowledging and addressing patient, clinician, organizational and policy barriers, and facilitators. Measurement tools are needed to assess cancer patients' and family members' experiences with communication over the course of cancer care to provide meaningful, actionable feedback to those seeking to optimize their effectiveness in communicating with patients with cancer. Copyright © 2013 John Wiley & Sons, Ltd.

Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR.

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Tyson, Jess; Armour, John A L

2012-12-11

Genotyping and massively-parallel sequencing projects result in a vast amount of diploid data that is only rarely resolved into its constituent haplotypes. It is nevertheless this phased information that is transmitted from one generation to the next and is most directly associated with biological function and the genetic causes of biological effects. Despite progress made in genome-wide sequencing and phasing algorithms and methods, problems assembling (and reconstructing linear haplotypes in) regions of repetitive DNA and structural variation remain. These dynamic and structurally complex regions are often poorly understood from a sequence point of view. Regions such as these that are highly similar in their sequence tend to be collapsed onto the genome assembly. This is turn means downstream determination of the true sequence haplotype in these regions poses a particular challenge. For structurally complex regions, a more focussed approach to assembling haplotypes may be required. In order to investigate reconstruction of spatial information at structurally complex regions, we have used an emulsion haplotype fusion PCR approach to reproducibly link sequences of up to 1kb in length to allow phasing of multiple variants from neighbouring loci, using allele-specific PCR and sequencing to detect the phase. By using emulsion systems linking flanking regions to amplicons within the CNV, this led to the reconstruction of a 59kb haplotype across the DEFA1A3 CNV in HapMap individuals. This study has demonstrated a novel use for emulsion haplotype fusion PCR in addressing the issue of reconstructing structural haplotypes at multiallelic copy variable regions, using the DEFA1A3 locus as an example.

Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR

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Tyson Jess

2012-12-01

Full Text Available Abstract Background Genotyping and massively-parallel sequencing projects result in a vast amount of diploid data that is only rarely resolved into its constituent haplotypes. It is nevertheless this phased information that is transmitted from one generation to the next and is most directly associated with biological function and the genetic causes of biological effects. Despite progress made in genome-wide sequencing and phasing algorithms and methods, problems assembling (and reconstructing linear haplotypes in regions of repetitive DNA and structural variation remain. These dynamic and structurally complex regions are often poorly understood from a sequence point of view. Regions such as these that are highly similar in their sequence tend to be collapsed onto the genome assembly. This is turn means downstream determination of the true sequence haplotype in these regions poses a particular challenge. For structurally complex regions, a more focussed approach to assembling haplotypes may be required. Results In order to investigate reconstruction of spatial information at structurally complex regions, we have used an emulsion haplotype fusion PCR approach to reproducibly link sequences of up to 1kb in length to allow phasing of multiple variants from neighbouring loci, using allele-specific PCR and sequencing to detect the phase. By using emulsion systems linking flanking regions to amplicons within the CNV, this led to the reconstruction of a 59kb haplotype across the DEFA1A3 CNV in HapMap individuals. Conclusion This study has demonstrated a novel use for emulsion haplotype fusion PCR in addressing the issue of reconstructing structural haplotypes at multiallelic copy variable regions, using the DEFA1A3 locus as an example.

Perspectives of family members on planning end-of-life care for terminally ill and frail older people.

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van Eechoud, Ineke J; Piers, Ruth D; Van Camp, Sigrid; Grypdonck, Mieke; Van Den Noortgate, Nele J; Deveugele, Myriam; Verbeke, Natacha C; Verhaeghe, Sofie

2014-05-01

Advance care planning (ACP) is the process by which patients, together with their physician and loved ones, establish preferences for future care. Because previous research has shown that relatives play a considerable role in end-of-life care decisions, it is important to understand how family members are involved in this process. To gain understanding of the involvement of family members in ACP for older people near the end of life by exploring their views and experiences concerning this process. This was a qualitative research study, done with semistructured interviews. Twenty-one family members were recruited from three geriatric settings in Flanders, Belgium. The data were analyzed using the constant comparative method as proposed by the grounded theory. Family members took different positions in the ACP process depending on how much responsibility the family member wanted to take and to what extent the family member felt the patient expected him/her to play a part. The position of family members on these two dimensions was influenced by several factors, namely acknowledgment of the imminent death, experiences with death and dying, opinion about the benefits of ACP, burden of initiating conversations about death and dying, and trust in health care providers. Furthermore, the role of family members in ACP was embedded in the existing relationship patterns. This study provides insight into the different positions of family members in the end-of-life care planning of older patients with a short life expectancy. It is important for health care providers to understand the position of a family member in the ACP of the patient, take into account that family members may experience an active role in ACP as burdensome, and consider existing relationship patterns. Copyright © 2014 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.

Stigma by association and family burden among family members of people with mental illness: the mediating role of coping.

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van der Sanden, Remko L M; Pryor, John B; Stutterheim, Sarah E; Kok, Gerjo; Bos, Arjan E R

2016-09-01

When someone has a mental illness, family members may share the experience of stigma. Past research has established that family members' experiences of stigma by association predict psychological distress and lower quality-of-life. The present study, conducted with 503 family members of people with mental illness examined the prevalence of 14 different coping strategies. Of greater importance, we examined the role of these coping strategies as mediators of the relationships between stigma by association and family burden, on the one hand, and outcomes, such as psychological distress and quality-of-life, on the other. The results showed that both perceived stigma by association and family burden are associated with greater psychological distress and lower quality-of-life, and that most coping strategies mediate these relationships. Adaptive coping strategies were related to reduced negative outcomes, while most maladaptive coping strategies were related to enhanced negative outcomes. Implications for intervention development are discussed.

A general approach for haplotype phasing across the full spectrum of relatedness.

Directory of Open Access Journals (Sweden)

Jared O'Connell

2014-04-01

Full Text Available Many existing cohorts contain a range of relatedness between genotyped individuals, either by design or by chance. Haplotype estimation in such cohorts is a central step in many downstream analyses. Using genotypes from six cohorts from isolated populations and two cohorts from non-isolated populations, we have investigated the performance of different phasing methods designed for nominally 'unrelated' individuals. We find that SHAPEIT2 produces much lower switch error rates in all cohorts compared to other methods, including those designed specifically for isolated populations. In particular, when large amounts of IBD sharing is present, SHAPEIT2 infers close to perfect haplotypes. Based on these results we have developed a general strategy for phasing cohorts with any level of implicit or explicit relatedness between individuals. First SHAPEIT2 is run ignoring all explicit family information. We then apply a novel HMM method (duoHMM to combine the SHAPEIT2 haplotypes with any family information to infer the inheritance pattern of each meiosis at all sites across each chromosome. This allows the correction of switch errors, detection of recombination events and genotyping errors. We show that the method detects numbers of recombination events that align very well with expectations based on genetic maps, and that it infers far fewer spurious recombination events than Merlin. The method can also detect genotyping errors and infer recombination events in otherwise uninformative families, such as trios and duos. The detected recombination events can be used in association scans for recombination phenotypes. The method provides a simple and unified approach to haplotype estimation, that will be of interest to researchers in the fields of human, animal and plant genetics.

Family members facilitating community re-integration and return to productivity following traumatic brain injury - motivations, roles and challenges.

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Gagnon, Alicia; Lin, Jenny; Stergiou-Kita, Mary

2016-01-01

This study explores the experiences of family members in supporting community re-integration and return to productive occupations of the traumatic brain injury (TBI) survivor in order to: (i) describe family members' supportive roles, (ii) determine challenges family members experience in supporting the TBI survivor; and (iii) identify supports that family members require to maintain and enhance their roles. This qualitative descriptive study involved 14 interviews with immediate family members of TBI survivors. Data was analyzed using thematic analysis. Family members expressed strong motivation and engaged in six key roles to support TBI survivors: researcher, case manager, advocate, coach, activities of daily living (ADL)/instrumental ADLs and emotional supporter. Personal and family stressors and challenges navigating the health care system were perceived as challenges in meeting demands of their supportive roles. Stigma also presented a barrier to successful community and vocational re-integration. Subsequently, family members desired more education related to the functional implications of TBI, to be connected to health care and community resources, and sought a greater family-centred care approach. Family members require on-going counseling and community supports to prevent burnout and allow for their continued engagement in their supportive roles. Further education on how to navigate the health care system, access community programs and rights to workplace accommodation is also warranted. Family members are strongly motivated to support survivors' return to productive occupation following a traumatic brain injury, but require counseling and community support to enable their on-going engagement and prevent burnout. Family members can be further empowered through the implementation of family-centred care. Family members requested further education on the long-term functional implications of TBI, how to navigate the health care system, how to access community

Nurses' views of forensic care in emergency departments and their attitudes, and involvement of family members.

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Linnarsson, Josefin Rahmqvist; Benzein, Eva; Årestedt, Kristofer

2015-01-01

To describe Nurses' views of forensic care provided for victims of violence and their families in EDs, to identify factors associated with Nurses' attitudes towards families in care and to investigate if these attitudes were associated with the involvement of patients' families in care. Interpersonal violence has serious health consequences for individuals and family members. Emergency departments provide care for victims of violence, and nurses play a key role in forensic care. However, there is limited knowledge of their views and their involvement of family members. A cross-sectional design was used with a sample of all registered nurses (n = 867) in 28 emergency departments in Sweden. A self-report questionnaire, including the instrument Families' Importance in Nursing Care - Nurses' Attitudes, was used to collect data. Descriptive statistics, multiple linear regression and ordinal regression were used to analyse data. Four hundred and fifty-seven nurses completed the questionnaire (53%). Most nurses provided forensic care, but few had specific education for this task. Policy documents and routines existed for specific patient groups. Most nurses involved family members in care although education and policy documents rarely included them. Being a woman, policy documents and own experience of a critically ill family member were associated with a positive attitude towards family. A positive attitude towards family members was associated with involving patients' families in care. Many emergency department nurses provided forensic care without having specific education, and policy documents only concerned women and children. Nurses' positive attitude to family members was not reflected in policies or education. These results can inspire clinical forensic care interventions in emergency departments. Educational efforts for nurses and policies for all groups of victims of violence are needed. Emergency departments may need to rethink how family members are included

Family Connections versus optimised treatment-as-usual for family members of individuals with borderline personality disorder: non-randomised controlled study.

LENUS (Irish Health Repository)

Flynn, Daniel

2017-01-01

Borderline personality disorder (BPD) is challenging for family members who are often required to fulfil multiple roles such as those of advocate, caregiver, coach and guardian. To date, two uncontrolled studies by the treatment developers suggest that Family Connections (FC) is an effective programme to support, educate and teach skills to family members of individuals with BPD. However, such studies have been limited by lack of comparison to other treatment approaches. This study aimed to compare the effectiveness of FC with an optimised treatment-as-usual (OTAU) programme for family members of individuals with BPD. A secondary aim was to introduce a long term follow-up to investigate if positive gains from the intervention would be maintained following programme completion.

Radiation exposure to family members of patients with thyrotoxicosis treated with iodine-131

International Nuclear Information System (INIS)

Cappelen, Tone; Amundsen, Anne Lise; Kravdal, Gunnhild; Unhjem, Jan Frede; Foelling, Ivar

2006-01-01

The purpose of this study was twofold: (1) to measure the radiation exposure to family members of out-patients with thyrotoxicosis treated with radioiodine, 131 I, using the recommendations from the European Commission (EC) guidance and age-specific periods for behaviour restrictions; (2) to use the results to identify necessary restrictions to ensure recommended dose constraints. The study population comprised 76 family members (46 adults and 30 children below the age of 18) of 42 patients. The patients were treated with an average activity of 417 MBq (range 260-600 MBq). They received oral and written EC recommendations about behaviour restrictions (translated into Norwegian). On the day of treatment we repeated the oral instructions to the patient and an adult family member. The time periods for restrictions were 14 days for children aged 0-10 years, 7 days for persons aged 11-59 years and 3 days for persons aged 60 years and older. Family members wore a thermoluminescent dosimeter (TLD) on each wrist day and night for 2 weeks. The doses received were adjusted to give an estimate of the expected values if the TLDs had been worn indefinitely. Radiation doses well below the recommended dose constraints were measured for all adult family members and children, except one 2-year-old child; in the latter case the mother probably did not comply with the instructions given. The radiation dose to family members of thyrotoxic patients treated with up to 600 MBq of radioiodine is well below recommended dose constraints if EC instructions are given and compliance is adequate. The duration of restrictions for various age groups used in this study may be considered when establishing guidelines in Norway. (orig.)

Assessing the place of neurobiological explanations in accounts of a family member's addiction.

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Meurk, Carla; Fraser, Doug; Weier, Megan; Lucke, Jayne; Carter, Adrian; Hall, Wayne

2016-07-01

The brain disease model of addiction posits that addiction is a persistent form of neural dysfunction produced by chronic drug use, which makes it difficult for addicted persons to become and remain abstinent. As part of an anticipatory policy analysis of addiction neuroscience, we engaged family members of addicted individuals to assess their views on the place and utility of brain-based accounts of addiction. Fifteen in-depth qualitative interviews were conducted and used to develop a quantitative online survey that was completed by 55 family members. This article reports responses on what addiction is and how it is caused and responses to explanations of the brain disease model of addiction. Participants gave multiple reasons for their family members developing an addiction and there was no single dominant belief about the best way to describe addiction. Participants emphasised the importance of both scientific and non-scientific perspectives on addiction by providing multifactorial explanations of their family members' addictions. Most family members acknowledged that repeated drug use can cause changes to the brain, but they varied in their reactions to labelling addiction a 'brain disease'. They believed that understanding addiction, and how it is caused, could help them support their addicted relative. Participants' beliefs about neurobiological information and the brain disease model of addiction appeared to be driven by empathetic, utilitarian considerations rather than rationalist ones. We discuss the importance of providing information about the nature and causes of addiction. [Meurk C, Fraser D, Weier M, Lucke J, Carter A, Hall W. Assessing the place of neurobiological explanations in accounts of a family member's addiction. Drug Alcohol Rev 2016;35:461-469]. © 2015 Australasian Professional Society on Alcohol and other Drugs.

Caregiving for Dementia in Family Members: Caregiving Burden and Prospects for Effective Intervention.

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Maiden, Robert J.; And Others

Caring for a family member with dementia is a major source of stress for the caregiver. To assess the impact of caring for an impaired family member and to evaluate the effectiveness of intervention programs, 34 caregivers of relatives with dementia completed an amended form of the Philadelphia Geriatric Center's Caregiver Survey and two…

Home support workers perceptions of family members of their older clients: a qualitative study.

Science.gov (United States)

Sims-Gould, Joanie; Byrne, Kerry; Tong, Catherine; Martin-Matthews, Anne

2015-12-12

Health care discourse is replete with references to building partnerships between formal and informal care systems of support, particularly in community and home based health care. Little work has been done to examine the relationship between home health care workers and family caregivers of older clients. The purpose of this study is to examine home support workers' (HSWs) perceptions of their interactions with their clients' family members. The goal of this research is to improve client care and better connect formal and informal care systems. A qualitative study, using in-depth interviews was conducted with 118 home support workers in British Columbia, Canada. Framework analysis was used and a number of strategies were employed to ensure rigor including: memo writing and analysis meetings. Interviews were transcribed verbatim and sent to a professional transcription agency. Nvivo 10 software was used to manage the data. Interactions between HSWs and family members are characterized in terms both of complementary labour (family members providing informational and instrumental support to HSWs), and disrupted labour (family members creating emotion work and additional instrumental work for HSWs). Two factors, the care plan and empathic awareness, further impact the relationship between HSWs and family caregivers. HSWs and family members work to support one another instrumentally and emotionally through interdependent interactions and empathic awareness. Organizational Care Plans that are too rigid or limited in their scope are key factors constraining interactions.

Determining the satisfaction levels of the family members of patients with advanced-stage cancer.

Science.gov (United States)

Ozcelik, Hanife; Cakmak, Deniz Ezgi; Fadiloglu, Cicek; Yildirim, Yasemin; Uslu, Ruchan

2015-06-01

The objective of our study was to determine the satisfaction levels of family members of patients with advanced-stage cancer. This descriptive study was conducted in the palliative care and medical oncology clinics of a university hospital in the province of Izmir between April of 2011 and January of 2012. The study sample consisted of a total of 145 family members, who were selected from among the family members of patients with advanced-stage cancer receiving palliative treatment. The study data were obtained using the Patient Description Form and Family Satisfaction Scale during face-to-face interviews with patients. Some 67% of patients were female and 33% male, 70% were married, 35% were high school graduates, and 34.5% were housewives. The average total family satisfaction score was 76.87 ± 1.14, and the average scores for the component variables were as follows: information giving 74.37 ± 1.28, availability of care 78.40 ± 1.17, physical care 78.99 ± 1.09, and psychosocial care 74.52 ± 1.30. We found a relationship between the level of satisfaction of family members and (1) gender, (2) occupation, (3) presence of someone supporting the care, and (4) possession of sufficient information about the patient (p Satisfaction levels of participants were determined to be high. We found that family member satisfaction levels were affected by gender and occupation, the existence of someone supporting the care, and possession of sufficient information about the patient.

Caregiver burden in Danish family members of patients with severe brain injury

DEFF Research Database (Denmark)

Doser, Karoline; Norup, Anne

2016-01-01

OBJECTIVE: To investigate caregiver burden and factors associated with caregiver burden among family members of patients with severe brain injury in the chronic phase. Additionally, the study aimed at investigating differences in burden between parents and spouses. METHODS: Forty-four Danish...... caregivers of patients with severe brain injury were contacted 3-6 years post-injury and asked to complete a measure of caregiver burden. RESULTS: Medium, high and low levels of burden were observed in 45%, 16% and 39% of family members, respectively. Higher burden was seen in caregivers of patients...... with more severe injuries, who spent more time on caregiving and reported more unmet needs. Overall, spouses spent significantly more time taking care of their family member than parents and reported higher levels of burden. CONCLUSIONS: The findings emphasized the continuing consequences of brain injury...

Interrelationships between Amerindian tribes of lower Amazonia as manifest by HLA haplotype disequilibria.

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Black, F L

1984-11-01

HLA B-C haplotypes exhibit common disequilibria in populations drawn from four continents, indicating that they are subject to broadly active selective forces. However, the A-B and A-C associations we have examined show no consistent disequilibrium pattern, leaving open the possibility that these disequilibria are due to descent from common progenitors. By examining HLA haplotype distributions, I have explored the implications that would follow from the hypothesis that biological selection played no role in determining A-C disequilibria in 10 diverse tribes of the lower Amazon Basin. Certain haplotypes are in strong positive disequilibria across a broad geographic area, suggesting that members of diverse tribes descend from common ancestors. On the basis of the extent of diffusion of the components of these haplotypes, one can estimate that the progenitors lived less than 6,000 years ago. One widely encountered lineage entered the area within the last 1,200 years. When haplotype frequencies are used in genetic distance measurements, they give a pattern of relationships very similar to that obtained by conventional chord measurements based on several genetic markers; but more than that, when individual haplotype disequilibria in the several tribes are compared, multiple origins of a single tribe are discernible and relationships are revealed that correlate more closely to geographic and linguistic patterns than do the genetic distance measurements.

Haplotype-Based Genotyping in Polyploids

Directory of Open Access Journals (Sweden)

Josh P. Clevenger

2018-04-01

Full Text Available Accurate identification of polymorphisms from sequence data is crucial to unlocking the potential of high throughput sequencing for genomics. Single nucleotide polymorphisms (SNPs are difficult to accurately identify in polyploid crops due to the duplicative nature of polyploid genomes leading to low confidence in the true alignment of short reads. Implementing a haplotype-based method in contrasting subgenome-specific sequences leads to higher accuracy of SNP identification in polyploids. To test this method, a large-scale 48K SNP array (Axiom Arachis2 was developed for Arachis hypogaea (peanut, an allotetraploid, in which 1,674 haplotype-based SNPs were included. Results of the array show that 74% of the haplotype-based SNP markers could be validated, which is considerably higher than previous methods used for peanut. The haplotype method has been implemented in a standalone program, HAPLOSWEEP, which takes as input bam files and a vcf file and identifies haplotype-based markers. Haplotype discovery can be made within single reads or span paired reads, and can leverage long read technology by targeting any length of haplotype. Haplotype-based genotyping is applicable in all allopolyploid genomes and provides confidence in marker identification and in silico-based genotyping for polyploid genomics.

Distribution of transglutaminase family members in mouse whole body sections.

Science.gov (United States)

Tatsukawa, Hideki; Abe, Natsumi; Ohashi, Shintaro; Hitomi, Kiyotaka

2015-11-27

Transglutaminases (TGs) comprise a protein family in which the members catalyze the formation of isopeptide bonds between glutamine and lysine residues in various proteins. Eight enzymes have been identified and designated as factor XIII (FXIII) and TG1-7. Expression studies of four major members, i.e., FXIII, TG1, TG2, and TG3, have been performed in a relatively large number of mammalian tissues in comparison with those on the other isozymes. The structural and biochemical characteristics of these individual isozymes and expression analyses of TG family in some tissue extracts have been reported, but there have been no simultaneous comparative analyses of both their mRNA and protein expression patterns in tissues distributions. Thus, we developed novel experimental systems for in situ hybridization using cryofilm attached to whole body sections of neonatal mice, thereby obtaining data regarding the tissue distributions of the major TG isozymes. In this study, we performed the first detailed comparative analysis of the mRNA and protein distribution studies of TG family members in a wide range of mouse tissues. These data will be helpful for elucidating the unknown physiological and pathological functions of TGs. Copyright © 2015 Elsevier Inc. All rights reserved.

A qualitative study on communication between nursing students and the family members of patients.

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Chan, Zenobia C Y

2017-12-01

When caring for a family as a unit, it is as crucial to communicate with the family members of a patient as it is with the patient. However, there is a lack of research on the views of nursing students on communicating with the family members of patients, and little has been mentioned in the nursing curriculum on this topic. The aim of this study was to explore nursing students' experiences of communicating with the family members of patients. A qualitative descriptive study. A total of 42 nursing students (21 undergraduate year-two students and 21 were master's year-one students) from one school of nursing in Hong Kong participated in in-depth individual interviews. Content analysis was adopted. The trustworthiness of this study was ensured by enhancing its credibility, confirmability, and dependability. Two main themes were discerned. The first, "inspirations gained from nursing student-family communication", included the following sub-themes: (a) responding to enquiries clearly, (b) avoiding sensitive topics, (c) listening to the patient's family, and (d) sharing one's own experiences. The second, "emotions aroused from nursing student-family communication", had the following sub-themes: (a) happiness, (b) anger, (c) sadness, and (d) anxiety. More studies on the perspectives of nursing students on communicating with family members should be conducted, to strengthen the contents and learning outcomes of nursing student-family communication in the existing nursing curriculum. Copyright © 2017 Elsevier Ltd. All rights reserved.

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

DEFF Research Database (Denmark)

Xu, Yan; Li, Xuchao; Ge, Hui-Juan

2015-01-01

Purpose:This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach.Methods:Eight families at risk for DMD were recruited for this study. Parental haplotypes were constructed using target-region sequencing data...

In our own voice-family companion: reducing self-stigma of family members of persons with serious mental illness.

Science.gov (United States)

Perlick, Deborah A; Nelson, Ann H; Mattias, Kate; Selzer, James; Kalvin, Carla; Wilber, Charles H; Huntington, Brittney; Holman, Caroline S; Corrigan, Patrick W

2011-12-01

This article reports preliminary findings from a novel, family peer-based intervention designed to reduce self-stigma among family members of people with serious mental illness. A total of 158 primary caregivers of patients with schizophrenia were recruited from a large urban mental health facility (93 caregivers) or from a family and consumer advocacy organization (65 caregivers). Caregivers (N=122) who reported they perceived at least a moderate level of mental illness-related stigma were evaluated on measures of self-stigma, withdrawal, secrecy, anxiety, and social comparison and randomly assigned to receive one of two, one-session group interventions: a peer-led intervention (In Our Own Voice-Family Companion [IOOV-FC]) designed to stimulate group discussion or a clinician-led family education session, which delivered information about mental illness in a structured, didactic format. IOOV-FC consisted of playing a videotape of family members who describe their experiences coping with stigma, which was followed by a discussion led by two family peers who modeled sharing their own experiences and facilitated group sharing. Of 24 family members and ten consumers, 96% rated the videotape above a predetermined acceptability threshold on a 19-item scale assessing cultural sensitivity, respect for different stakeholders, relevance of content, and technical quality (α=.92). Caregivers receiving IOOV-FC with low to moderate pretreatment anxiety reported a substantial reduction in self-stigma (effect size=.50) relative to those receiving clinician-led family education (p=.017) as well as significant reductions in secrecy (p=.031). Peer-led group interventions may be more effective in reducing family self-stigma than clinician-led education, at least for persons reporting experiencing low to moderate anxiety levels on a standard questionnaire

A Comparative Study on the Meaning in Life of Patients with Cancer and Their Family Members.

Science.gov (United States)

Hassankhani, Hadi; Soheili, Amin; Hosseinpour, Issa; Eivazi Ziaei, Jamal; Nahamin, Mina

2017-12-01

Introduction: The overwhelming effects of cancer could be catastrophic for the patients and their family members, putting them at risk of experiencing uncertainty, loss, and an interruption in life. Also, it can influence their sense of meaning, a fundamental need equated with the purpose in life. Accordingly, this study aimed to compare the meaning in life (MiL) of patients with cancer and their family members. Methods: This descriptive comparative study was conducted on 400 patients with cancer and their family members admitted to university hospitals in Tabriz and Ardebil provinces, Iran. The participants were sampled conveniently and the Life Evaluation Questionnaire (LEQ) were used for collecting data analyzed through descriptive and inferential statistics in SPSS ver. 13 Software. Results: The mean score for the MiL of the patients with cancer and their family members was 119 (16.92) and 146.2 (17.07), respectively. There was a significant difference between patients with cancer and their family members in terms of MiL. Conclusion: The MiL of patients with cancer is lower than that of their family members, which indicates the need for further attention to the psychological processes and their modification in Iranian healthcare systems.

Family members' needs and experiences of driving disruption over time following an acquired brain injury: an evolving issue.

Science.gov (United States)

Liang, Phyllis; Gustafsson, Louise; Liddle, Jacki; Fleming, Jennifer

2017-07-01

Family members often assume the role of driver for individuals who are not driving post-acquired brain injury (ABI). Given that return to driving can be unpredictable and uncertain, the impact of driving disruption on family members may vary at different stages post-injury. This study aims to understand the needs and experiences of family members over time during driving disruption following an ABI. A qualitative prospective longitudinal research design was used with semi-structured interviews at recruitment to study, 3 and 6 months later. Fourteen family members completed 41 interviews. The longitudinal data revealed four phases of driving disruption: (1) Wait and see, (2) Holding onto a quick fix, (3) No way out, and (4) Resolution and adjustment. The phases described a process of building tension and a need for support and resolution over time. Holding onto a quick fix is a pivotal phase whereby supports, such as engagement in realistic goal setting, are essential to facilitate family members' resolution of driving disruption issues. Family members who see no way out might not actively seek help and these points to a need for long-term and regular follow-ups. Future research can explore ways to support family members at these key times. Implications for rehabilitation Health professionals need to facilitate the process of fostering hope in family members to set realistic expectations of return to driving and the duration of driving disruption. It is necessary to follow-up with family members even years after ABI as the issue of driving disruption could escalate to be a crisis and family members might not actively seek help. Health professionals can consider both practical support for facilitating transport and emotional support when addressing the issue of driving disruption with family members.

Family members' involvement in psychiatric care: experiences of the healthcare professionals' approach and feeling of alienation.

Science.gov (United States)

Ewertzon, M; Lützén, K; Svensson, E; Andershed, B

2010-06-01

The involvement of family members in psychiatric care is important for the recovery of persons with psychotic disorders and subsequently reduces the burden on the family. Earlier qualitative studies suggest that the participation of family members can be limited by how they experience the professionals' approach, which suggests a connection to the concept of alienation. Thus, the aim of this study was in a national sample investigate family members' experiences of the psychiatric health care professionals' approach. Data were collected by the Family Involvement and Alienation Questionnaire. The median level and quartiles were used to describe the distributions and data were analysed with non-parametric statistical methods. Seventy family members of persons receiving psychiatric care participated in the study. The results indicate that a majority of the participants respond that they have experiencing a negative approach from the professionals, indicating lack of confirmation and cooperation. The results also indicate that a majority of the participants felt powerlessness and social isolation in the care being provided, indicating feelings of alienation. A significant but weak association was found between the family members' experiences of the professionals' approach and their feelings of alienation.

Impact of prior ICU experience on ICU patient family members' psychological distress: A descriptive study.

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Lewis, Chrystal L; Taylor, Jessica Z

2017-12-01

To determine if current levels of anxiety, depression and acute stress disorder symptoms differ significantly among family members of intensive-care-unit patients depending upon previous intensive-care experience. This study used a prospective, descriptive study design. Family members (N=127) from patients admitted within a 72-hour timeframe to the medical, surgical, cardiac and neurological intensive care units were recruited from waiting rooms at a medium-sized community hospital in the Southeastern United States. Participants completed the Hospital Anxiety and Depression Scale, the Impact of Events Scale-Revised, the Acute Stress Disorder Scale and a demographic questionnaire. A multivariate analysis revealed that family members of intensive-care-unit patients with a prior intensive-care experience within the past two years (n=56) were significantly more likely to report anxiety, depression and acute stress symptoms, Λ=0.92, F [4122]=2.70, p=0.034, partial η 2 =0.08, observed power=0.74. Results of this study show that family members' psychological distress is higher with previous familial or personal intensive-care experience. Nurses need to assess for psychological distress in ICU family members and identify those who could benefit from additional support services provided in collaboration with multidisciplinary support professionals. Copyright © 2017 Elsevier Ltd. All rights reserved.

In Asian americans, is having a family member diagnosed with cancer associated with fatalistic beliefs?

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Carolee Polek

2016-01-01

Full Text Available Objective: Cancer can evoke long-held cultural beliefs which either facilitate or impede efforts to expand the health literacy of families. Among these beliefs is fatalism which holds that controlling ones′ outcome is not possible, and that ones′ outcome is predestined. Some fatalistic beliefs are broadly held within the Asian American (AA community and may be challenged or reinforced by the experience of having a family member diagnosed with cancer. This study evaluated the relationship between having a family member diagnosed with cancer and selected demographics in AAs on fatalistic beliefs. Methods: Data from 519 AA subjects from the Centers for Disease Control and Prevention Health Information Trends Survey were used to complete a secondary analysis. Descriptive statistics characterize fatalistic beliefs. Four models using four questions assessed fatalistic beliefs as dependent variables and independent variables of having or not having a family member diagnosed with cancer, completing college or not, sex, and age were assessed using ordinal regression. Results: All of the fatalistic beliefs examined were endorsed by large portions of the subjects. When considering the role of being exposed to having a family member with cancer, it was associated with an increase in the likelihood in a belief that one is likely to get cancer, and everything can cause cancer. Being exposed to a family member diagnosed with cancer was not significantly associated with believing, there was little one could do to control their cancer risk. This belief was broadly rejected. While the belief that there are so many different recommendations about preventing cancer, it is hard to know what to do, was broadly endorsed and not associated with having a family member diagnosed with cancer. Conclusions: The major practice implications within oncology nursing suggest the importance in assessing cancer health literacy and providing corrective knowledge in families

COMBINING WORK WITH CARING FOR ELDERLY FAMILY MEMBER IN POLAND (CHOSEN ISSUES

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Lukasz Jurek

2016-07-01

Full Text Available The problem of combining work with caring for elderly family members is becoming an increasingly important matter due to demographic (population ageing and social (increasing economic activity of women changes that are currently in progress. The aim of the article is to present selected issues related to the professional situation of people taking care for their elderly family members. The primary focus of the study is reasons for not working of non-working caregivers, and professional problems of working caregivers

Stromal-dependent tumor promotion by MIF family members.

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Mitchell, Robert A; Yaddanapudi, Kavitha

2014-12-01

Solid tumors are composed of a heterogeneous population of cells that interact with each other and with soluble and insoluble factors that, when combined, strongly influence the relative proliferation, differentiation, motility, matrix remodeling, metabolism and microvessel density of malignant lesions. One family of soluble factors that is becoming increasingly associated with pro-tumoral phenotypes within tumor microenvironments is that of the migration inhibitory factor family which includes its namesake, MIF, and its only known family member, D-dopachrome tautomerase (D-DT). This review seeks to highlight our current understanding of the relative contributions of a variety of immune and non-immune tumor stromal cell populations and, within those contexts, will summarize the literature associated with MIF and/or D-DT. Copyright © 2014 Elsevier Inc. All rights reserved.

Osteochondritis Dissecans Lesions in Family Members: Does a Positive Family History Impact Phenotypic Potency?

Science.gov (United States)

Gornitzky, Alex L; Mistovich, R Justin; Atuahuene, Brittany; Storey, Eileen P; Ganley, Theodore J

2017-06-01

Although repetitive microtrauma and athletic overuse patterns are most commonly associated with osteochondritis dissecans (OCD), recent studies have identified a potential genetic predisposition for OCD. Several case series have documented family pedigrees that support autosomal-dominant inheritance, but the families in these studies were all selected as a result of unique histories that may not accurately represent OCD inheritance patterns at large. Because there has been little investigation beyond these case reports, we aimed to describe a broader, more representative pattern of OCD inheritance applicable to all affected patients. (1) What proportion of patients treated for OCD of the knee have one or more immediate and/or extended family members with a history of OCD lesions? (2) Do patients with more phenotypically potent lesions, which we defined as patients with bilateral OCD lesions or patients who have undergone multiple procedures for OCD, have a higher frequency of affected relatives than those with less potent lesions? This retrospective study queried patient databases, diagnosis codes (International Classification of Diseases, 9th Revision), and surgical logs at a regional, tertiary care children's hospital to identify all patients treated over a 10-year period (March 2004-March 2014) by the senior author for OCD of the knee. All patients aged 0-18 years at the time of diagnosis were included. At our institution, patients with intact lesions are treated with a trial of conservative therapy; conversely, patients with a break in the articular cartilage and/or loose fragments of bone/cartilage are treated surgically. There were no OCD-specific contraindications to surgery. This search identified 543 patients. After patient identification, a questionnaire was designed that asked for the number, age, and gender of all immediate family members and the history of OCD lesions in any family member (immediate or extended). For all positive family members

Understanding Response Rates to Surveys About Family Members' Psychological Symptoms After Patients' Critical Illness.

Science.gov (United States)

Long, Ann C; Downey, Lois; Engelberg, Ruth A; Nielsen, Elizabeth; Ciechanowski, Paul; Curtis, J Randall

2017-07-01

Achieving adequate response rates from family members of critically ill patients can be challenging, especially when assessing psychological symptoms. To identify factors associated with completion of surveys about psychological symptoms among family members of critically ill patients. Using data from a randomized trial of an intervention to improve communication between clinicians and families of critically ill patients, we examined patient-level and family-level predictors of the return of usable surveys at baseline, three months, and six months (n = 181, 171, and 155, respectively). Family-level predictors included baseline symptoms of psychological distress, decisional independence preference, and attachment style. We hypothesized that family with fewer symptoms of psychological distress, a preference for less decisional independence, and secure attachment style would be more likely to return questionnaires. We identified several predictors of the return of usable questionnaires. Better self-assessed family member health status was associated with a higher likelihood and stronger agreement with a support-seeking attachment style with a lower likelihood, of obtaining usable baseline surveys. At three months, family-level predictors of return of usable surveys included having usable baseline surveys, status as the patient's legal next of kin, and stronger agreement with a secure attachment style. The only predictor of receipt of surveys at six months was the presence of usable surveys at three months. We identified several predictors of the receipt of surveys assessing psychological symptoms in family of critically ill patients, including family member health status and attachment style. Using these characteristics to inform follow-up mailings and reminders may enhance response rates. Copyright © 2017 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.

[Construction of haplotype and haplotype block based on tag single nucleotide polymorphisms and their applications in association studies].

Science.gov (United States)

Gu, Ming-liang; Chu, Jia-you

2007-12-01

Human genome has structures of haplotype and haplotype block which provide valuable information on human evolutionary history and may lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to complex diseases. Haplotype block can be divided into discrete blocks of limited haplotype diversity. In each block, a small fraction of ptag SNPsq can be used to distinguish a large fraction of the haplotypes. These tag SNPs can be potentially useful for construction of haplotype and haplotype block, and association studies in complex diseases. There are two general classes of methods to construct haplotype and haplotype blocks based on genotypes on large pedigrees and statistical algorithms respectively. The author evaluate several construction methods to assess the power of different association tests with a variety of disease models and block-partitioning criteria. The advantages, limitations and applications of each method and the application in the association studies are discussed equitably. With the completion of the HapMap and development of statistical algorithms for addressing haplotype reconstruction, ideas of construction of haplotype based on combination of mathematics, physics, and computer science etc will have profound impacts on population genetics, location and cloning for susceptible genes in complex diseases, and related domain with life science etc.

Low-income families' perceptions on the use of drugs by one of their members.

Science.gov (United States)

Martins, Mayra; Santos, Manoel Antonio Dos; Pillon, Sandra Cristina

2008-01-01

Families who are socially excluded are vulnerable to problems related to the use of psychoactive substances. This study aimed to identify the perception regarding drugs use among families that lived in extreme poverty and participated in a social-educational group in the suburbs of a city in the interior of São Paulo State. A survey-like quantitative study was conducted involving 70 members of families who participated in the social-educational groups of the Program for Integral Assistance to the Family. Results indicated that 67 (95.7%) of the subjects were married, at an average age of 37, most of them had not completed grade school, and were unemployed. Fifty five (78.6%) had a family member who used alcohol, fifty two (74,3%) smoked, and twenty three (32.9%) used some kind of illicit drug. The results also showed that living with a relative who was a drug user was perceived as problem that elicited feelings resentment, but also conformism on the part of other family members.

Genomic sequence of 'Candidatus Liberibacter solanacearum' haplotype C and its comparison with haplotype A and B genomes.

Directory of Open Access Journals (Sweden)

Jinhui Wang

Full Text Available Haplotypes A and B of 'Candidatus Liberibacter solanacearum' (CLso are associated with diseases of solanaceous plants, especially Zebra chip disease of potato, and haplotypes C, D and E are associated with symptoms on apiaceous plants. To date, one complete genome of haplotype B and two high quality draft genomes of haplotype A have been obtained for these unculturable bacteria using metagenomics from the psyllid vector Bactericera cockerelli. Here, we present the first genomic sequences obtained for the carrot-associated CLso. These two genomic sequences of haplotype C, FIN114 (1.24 Mbp and FIN111 (1.20 Mbp, were obtained from carrot psyllids (Trioza apicalis harboring CLso. Genomic comparisons between the haplotypes A, B and C revealed that the genome organization differs between these haplotypes, due to large inversions and other recombinations. Comparison of protein-coding genes indicated that the core genome of CLso consists of 885 ortholog groups, with the pan-genome consisting of 1327 ortholog groups. Twenty-seven ortholog groups are unique to CLso haplotype C, whilst 11 ortholog groups shared by the haplotypes A and B, are not found in the haplotype C. Some of these ortholog groups that are not part of the core genome may encode functions related to interactions with the different host plant and psyllid species.

Payment or Reimbursement for Certain Medical Expenses for Camp Lejeune Family Members. Final rule.

Science.gov (United States)

2017-05-05

The Department of Veterans Affairs (VA) adopts as final an interim final rule addressing payment or reimbursement of certain medical expenses for family members of Camp Lejeune veterans. Under this rule, VA reimburses family members, or pays providers, for medical expenses incurred as a result of certain illnesses and conditions that may be associated with contaminants present in the base water supply at U.S. Marine Corps Base Camp Lejeune (Camp Lejeune), North Carolina, from August 1, 1953, to December 31, 1987. Payment or reimbursement is made within the limitations set forth in statute and Camp Lejeune family members receive hospital care and medical services that are consistent with the manner in which we provide hospital care and medical services to Camp Lejeune veterans. The statutory authority has since been amended to also include certain veterans' family members who resided at Camp Lejeune, North Carolina, for no less than 30 days (consecutive or nonconsecutive) between August 1, 1953, and December 31, 1987. This final rule will reflect that statutory change and will address public comments received in response to the interim final rule.

Guilt, censure, and concealment of active smoking status among cancer patients and family members after diagnosis: a nationwide study.

Science.gov (United States)

Shin, Dong Wook; Park, Jong Hyock; Kim, So Young; Park, Eal Whan; Yang, Hyung Kook; Ahn, Eunmi; Park, Seon Mee; Lee, Young Joon; Lim, Myong Cheol; Seo, Hong Gwan

2014-05-01

We aimed to identify the prevalence of feelings of guilt, censure, and concealment of smoking status among cancer patients and their family members who continued to smoke after the patient's diagnosis. Among 990 patient-family member dyads, 45 patients and 173 family members who continued to smoke for at least 1 month after the patients' diagnoses were administered questions examining feelings of guilt, censure, and smoking concealment. Most patients who continued to smoke reported experiencing feelings of guilt toward their families (75.6%) and censure from their family members (77.8%), and many concealed their smoking from their family members (44.4%) or healthcare professionals (46.7%). Family members who continued to smoke also reported feelings of guilt with respect to the patient (63.6%) and that the patient was critical of them (68.9%), and many concealed their smoking from the patient (28.5%) or healthcare professionals (9.3%). Patients' feeling of guilt was associated with concealment of smoking from family members (55.9% vs. 10.0%) or health care professionals (55.9% vs. 20.0%). Family members who reported feeling guilty (36.5% vs. 16.3%) or censured (34.5% vs. 16.7%) were more likely to conceal smoking from patients. Many patients and family members continue to smoke following cancer diagnosis, and the majority of them experience feelings of guilt and censure, which can lead to the concealment of smoking status from families or health care professionals. Feelings of guilt, censure, and concealment of smoking should be considered in the development and implementation of smoking cessation programs for cancer patients and family members. Copyright © 2013 John Wiley & Sons, Ltd.

CHIS - Information concerning the health insurance of frontalier workers who are family members of a CHIS main member

CERN Multimedia

2014-01-01

We recently informed you that the Organization was still in discussions with the Host State authorities to clarify the situation regarding the health insurance of frontalier workers who are family members (as defined in the Staff Rules and Regulations) of a CHIS main member, and that we were hoping to arrive at a solution soon.   After extensive exchanges, we finally obtained a response a few days ago from the Swiss authorities, with which we are fully satisfied and which we can summarise as follows: 1) Frontalier workers who are currently using the CHIS as their basic health insurance can continue to do so. 2) Family members who become frontalier workers, or those who have not yet exercised their “right to choose” (droit d’option) can opt to use the CHIS as their basic health insurance. To this end, they must complete the form regarding the health insurance of frontaliers, ticking the LAMal box and submitting their certificate of CHIS membership (available from U...

Experiences of Family Members of Dying Patients Receiving Palliative Sedation.

Science.gov (United States)

Tursunov, Olga; Cherny, Nathan I; Ganz, Freda DeKeyser

2016-11-01

To describe the experience of family members of patients receiving palliative sedation at the initiation of treatment and after the patient has died and to compare these experiences over time.
. Descriptive comparative study.
. Oncology ward at Shaare Zedek Medical Center in Jerusalem, Israel.
. A convenience sample of 34 family members of dying patients receiving palliative sedation. 
. A modified version of a questionnaire describing experiences of family members with palliative sedation was administered during palliative sedation and one to four months after the patient died. Descriptive statistics were used to describe the results of the questionnaire, and appropriate statistical analyses were conducted for comparisons over time.
. Experiences of family members and time.
. Most relatives were satisfied with the sedation and staff support. Palliative sedation was experienced as an ethical way to relieve suffering. However, one-third felt that it shortened the patient's life. An explanation of the treatment was given less than half of the time and was usually given on the same day treatment was started. This explanation was given by physicians and nurses. Many felt that they were not ready for changes in the patient's condition and wanted increased opportunities to discuss the treatment with oncology care providers. No statistically significant differences in experiences were found over time. 
. Relatives' experiences of palliative sedation were generally positive and stable over time. Important experiences included timing of the initiation of sedation, timing and quality of explanations, and communication.
. Nurses should attempt to initiate discussions of the possible role of sedation in the event of refractory symptoms and follow through with continued discussions. The management of refractory symptoms at the end of life, the role of sedation, and communication skills associated with decision making related to palliative sedation should be a

Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case–control study

International Nuclear Information System (INIS)

Tamimi, Rulla M; Hankinson, Susan E; Spiegelman, Donna; Kraft, Peter; Colditz, Graham A; Hunter, David J

2004-01-01

The ataxia telangiectasia mutated (ATM) gene is a tumor suppressor gene with functions in cell cycle arrest, apoptosis, and repair of DNA double-strand breaks. Based on family studies, women heterozygous for mutations in the ATM gene are reported to have a fourfold to fivefold increased risk of breast cancer compared with noncarriers of the mutations, although not all studies have confirmed this association. Haplotype analysis has been suggested as an efficient method for investigating the role of common variation in the ATM gene and breast cancer. Five biallelic haplotype tagging single nucleotide polymorphisms are estimated to capture 99% of the haplotype diversity in Caucasian populations. We conducted a nested case–control study of breast cancer within the Nurses' Health Study cohort to address the role of common ATM haplotypes and breast cancer. Cases and controls were genotyped for five haplotype tagging single nucleotide polymorphisms. Haplotypes were predicted for 1309 cases and 1761 controls for which genotype information was available. Six unique haplotypes were predicted in this study, five of which occur at a frequency of 5% or greater. The overall distribution of haplotypes was not significantly different between cases and controls (χ 2 = 3.43, five degrees of freedom, P = 0.63). There was no evidence that common haplotypes of ATM are associated with breast cancer risk. Extensive single nucleotide polymorphism detection using the entire genomic sequence of ATM will be necessary to rule out less common variation in ATM and sporadic breast cancer risk

Experiences of family members of patients with colostomies and expectations about professional intervention

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Augusto Ferreira-Umpiérrez

2014-04-01

Full Text Available OBJECTIVE: the objective was to understand the experience of a group of family members of patients with colostomies, revealing their expectations regarding the intervention of health professionals.METHOD: qualitative research, with the social phenomenological approach of Alfred Schütz, conducted in Montevideo in 2012; twelve family members of patients with colostomies participated, from an ostomy service of a health institution.RESULTS: the following categories were identified: family ties, trust in the health care team, the nurse as the articulator of the process, the desire to humanize care, and adaptation to new family life.CONCLUSIONS: knowing the experience and expectations of the families of colostomy patients was achieved, emphasizing the previous family relationships to build upon them, and the trust in the health team, emphasizing the nurse as articulator of the process. Expectations focused on the desire for humanized care, enhancing adaptation of the nuclear family to the new way of life, restoring and enhancing its strengths, and collaborating in overcoming its weaknesses.

Stress experiences of family members of registered sex offenders.

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Tewksbury, Richard; Levenson, Jill

2009-01-01

The collateral consequences of sex offender registration and notification (SORN) have been well established, although little evidence has supported the efficacy of SORN. Based on the belief that family members provide some of the most consistent, important, and intense forms of support for criminal offenders in general and registered sex offenders (RSOs) more specifically, the experiences of sanctions, losses, and stresses of these individuals is examined. Using survey responses from 584 individuals known to visit online support and advocacy groups for RSOs and their loved ones, this study identifies the stress levels and stressors experienced by this population. Findings show that family members of RSOs experience high levels of social isolation, fear, shame, property damage, and forced residential relocation. Perceived stress is significantly higher for those who are of lower economic means, feel isolated, have high levels of fear and shame/embarrassment, or were forced to move. (c) 2009 John Wiley & Sons, Ltd.

Striving to be prepared for the painful: Management strategies following a family member's diagnosis of advanced cancer

Directory of Open Access Journals (Sweden)

Hedberg Berith

2011-10-01

Full Text Available Abstract Background Cancer has consequences not only for the sick person but also for those who have a close relationship with that person. Greater knowledge about how family members manage the situation in the period immediately following the diagnosis means greater opportunity to provide the best possible support for the family. The purpose of this study was to explore management strategies that family members use when the patient is in the early stage of treatment for advanced cancer. Methods Twenty family members of cancer patients were included in the study shortly after the diagnosis. The patients had been diagnosed 8-14 weeks earlier with advanced lung cancer or gastrointestinal cancer. The data were collected in interviews with family members and subjected to qualitative latent content analysis. Through the identification of similarities and dissimilarities in the units of meaning, abstraction into codes and sub-themes became possible. The sub-themes were then brought together in one overarching theme. Results The overall function of management strategies is expressed in the theme Striving to be prepared for the painful. The family members prepare themselves mentally for the anticipated tragedy. Family relationships become increasingly important, and family members want to spend all their time together. They try to banish thoughts of the impending death and want to live as normal a life as possible. It becomes important to family members to live in the present and save their energy for the time when they will need it the most. How participants handle their worries, anxiety and sadness can be categorized into seven sub-themes or management strategies: Making things easier in everyday life, Banishing thoughts about the approaching loss, Living in the present, Adjusting to the sick person's situation, Distracting oneself by being with others, Shielding the family from grief, and Attempting to maintain hope. Conclusions The findings revealed

[Music in human terminality: the family members' conceptions].

Science.gov (United States)

Sales, Catarina Aparecida; da Silva, Vladimir Araujo; Pilger, Calíope; Marcon, Sonia Silva

2011-03-01

This qualitative study was performed using the multiple case study method and Heidegger's existential phenomenology for data analysis. The objective was to understand how family members perceive the influence of musical experiences on the physical and mental health of a relative living with a terminal illness. Participants were seven individuals belonging to two families. Data collection was performed through interviews and observation from May to June 2009. Results showed that using music while providing care to beings living with cancer can provide well-being to patients as well as their caregivers. Considering the deficit of leisure and the monotony of the home environment, using music contemplates the philosophical and humanitarian precepts of palliative care, thus being characterized as a complementary resource to nursing care, as besides being a communication resource, it improves the interpersonal relationship between patients and their families.

The incidence of tuberculosis transmission among family members and outside households.

Science.gov (United States)

Kozińska, Monika; Augustynowicz-Kopeć, Ewa

2016-01-01

The risk of Mycobacterium tuberculosis complex (MTBC) infection is correlated with the concentration of infectious particles and exposure time. In closed populations, healthy people staying in very frequent, close and prolonged contact with a smear-positive person, become infected and represent another link in the chain of transmission of the disease. Therefore, in the fight against tuberculosis, an important element is quick identification of the patient and potentially infected people from his environment. In epidemiological investigation of tuberculosis (TB), family members are brought under special control as they are particularly exposed to transmission of infectious diseases. The study included 150 patients with bacteriologically confirmed tuberculosis who were members of 59 families. In the years 2003-2013 this population represented all TB cases detected in Poland in a family environment.Three PCR-based genotyping methods: spoligotyping, IS6110-Mtb1-Mtb2 PCR and MIRU-VNTR typing were used. Of 150 patients, 138 could be assigned to intra-household transmission on the basis of identical DNA fingerprints upon a combined typing approach. For 12 patients in 6 households, the M. tuberculosis isolates were clearly distinct in individual analysis - IS6110-Mtb1-Mtb2 PCR, spoligotyping or MIRU-VNTR typing or in three genotyping methods, suggesting that these patients were infected by the sources in the community. The analysis confirmed the transmission of tuberculosis among members of 53 families. In the remaining 6 families the source of infection were people outside the households. In all families with young children, strains isolated from them have identical DNA patterns as strains obtained from their adult caregivers. To confirm the transmission of TB in the study population of patients, epidemiological analysis required the addition of a genotyping methods characterised by high discriminatory power.

Distribution and origins of members of the Family Portulacaceae ...

African Journals Online (AJOL)

The present day distribution of members of the family Portulacaceae shows that whilst some genera such as Portulaca L., and to some extent Montia L. and Talinum Adanson are cosmopolitan in distribution, others such as Ceraria Pearson and Stephens, Lyallia Hooker fil., Portulacaria Jacquin, Silvaea Philippi and ...

Resilience in family members of persons with autism spectrum disorder: a review of the literature.

Science.gov (United States)

Bekhet, Abir K; Johnson, Norah L; Zauszniewski, Jaclene A

2012-10-01

Worldwide, caregivers find caring for children with Autism Spectrum Disorder (ASD) challenging. Family members must manage many aspects of care giving, which is demanding, overwhelming, and can affect the family members' mental health. However learning how to be resilient may help family members overcome the stress and burden associated with caring for a person with ASD. A search was completed in Medline, PsycINFO, Proquest, Web of Science, and CINAHL using the key words "autism," "caregivers," "mothers," and "fathers," alone and in combination. Inclusion criteria were English language articles reporting studies with samples of children with ASD, as distinct from children with other intellectual or developmental disabilities. Fifty-eight articles that met these inclusion criteria were summarized and, from those, the authors selected 22 articles that included indicators of resilience. This integrative review highlights current research on resilience in adult family members of persons with ASD. Indicators of resilience, risk factors, protective factors, and outcomes of resilience were identified. The review indicates that parents of children with ASD who possess indicators of resilience are better able to manage the adversity associated with caring for children with ASD. Thus, enhancing resilience among family members of persons with autism may be beneficial to both the caregivers and care recipients.

Factors affecting frequency of communication about family health history with family members and doctors in a medically underserved population.

Science.gov (United States)

Kaphingst, Kimberly A; Goodman, Melody; Pandya, Chintan; Garg, Priyanka; Stafford, Jewel; Lachance, Christina

2012-08-01

Family history contributes to risk for many common chronic diseases. Little research has investigated patient factors affecting communication of this information. 1061 adult community health center patients were surveyed. We examined factors related to frequency of discussions about family health history (FHH) with family members and doctors. Patients who talked frequently with family members about FHH were more likely to report a family history of cancer (p =.012) and heart disease (p history of heart disease (p = .011), meet physical activity recommendations (p = .022), seek health information frequently in newspapers (p history of some diseases, those not meeting physical activity recommendations, and those who do not frequently seek health information may not have ongoing FHH discussions. Interventions are needed to encourage providers to update patients' family histories systematically and assist patients in initiating FHH conversations in order to use this information for disease prevention and control. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Are molecular haplotypes worth the time and expense? A cost-effective method for applying molecular haplotypes.

Directory of Open Access Journals (Sweden)

Mark A Levenstien

2006-08-01

Full Text Available Because current molecular haplotyping methods are expensive and not amenable to automation, many researchers rely on statistical methods to infer haplotype pairs from multilocus genotypes, and subsequently treat these inferred haplotype pairs as observations. These procedures are prone to haplotype misclassification. We examine the effect of these misclassification errors on the false-positive rate and power for two association tests. These tests include the standard likelihood ratio test (LRTstd and a likelihood ratio test that employs a double-sampling approach to allow for the misclassification inherent in the haplotype inference procedure (LRTae. We aim to determine the cost-benefit relationship of increasing the proportion of individuals with molecular haplotype measurements in addition to genotypes to raise the power gain of the LRTae over the LRTstd. This analysis should provide a guideline for determining the minimum number of molecular haplotypes required for desired power. Our simulations under the null hypothesis of equal haplotype frequencies in cases and controls indicate that (1 for each statistic, permutation methods maintain the correct type I error; (2 specific multilocus genotypes that are misclassified as the incorrect haplotype pair are consistently misclassified throughout each entire dataset; and (3 our simulations under the alternative hypothesis showed a significant power gain for the LRTae over the LRTstd for a subset of the parameter settings. Permutation methods should be used exclusively to determine significance for each statistic. For fixed cost, the power gain of the LRTae over the LRTstd varied depending on the relative costs of genotyping, molecular haplotyping, and phenotyping. The LRTae showed the greatest benefit over the LRTstd when the cost of phenotyping was very high relative to the cost of genotyping. This situation is likely to occur in a replication study as opposed to a whole-genome association study.

Identification of a novel IL-1 cytokine family member in teleost fish.

Science.gov (United States)

Wang, Tiehui; Bird, Steve; Koussounadis, Antonis; Holland, Jason W; Carrington, Allison; Zou, Jun; Secombes, Christopher J

2009-07-15

A novel IL-1 family member (nIL-1F) has been discovered in fish, adding a further member to this cytokine family. The unique gene organization of nIL-1F, together with its location in the genome and low homology to known family members, suggests that this molecule is not homologous to known IL-1F. Nevertheless, it contains a predicted C-terminal beta-trefoil structure, an IL-1F signature region within the final exon, a potential IL-1 converting enzyme cut site, and its expression level is clearly increased following infection, or stimulation of macrophages with LPS or IL-1beta. A thrombin cut site is also present and may have functional relevance. The C-terminal recombinant protein antagonized the effects of rainbow trout rIL-1beta on inflammatory gene expression in a trout macrophage cell line, suggesting it is an IL-1beta antagonist. Modeling studies confirmed that nIL-1F has the potential to bind to the trout IL-1RI receptor protein, and may be a novel IL-1 receptor antagonist.

E2F family members are differentially regulated by reversible acetylation

DEFF Research Database (Denmark)

Marzio, G; Wagener, C; Gutierrez, M I

2000-01-01

of the other E2F family members. Here we report that E2F-1, -2, and -3, but not E2F-4, -5, and -6, associate with and are acetylated by p300 and cAMP-response element-binding protein acetyltransferases. Acetylation occurs at three conserved lysine residues located at the N-terminal boundary of their DNA......The six members of the E2F family of transcription factors play a key role in the control of cell cycle progression by regulating the expression of genes involved in DNA replication and cell proliferation. E2F-1, -2, and -3 belong to a structural and functional subfamily distinct from those...

Protecting the privacy of family members in survey and pedigree research.

Science.gov (United States)

Botkin, J

2001-01-10

The recent controversy at Virginia Commonwealth University involving research ethics raises important and complex issues in survey and pedigree research. The primary questions are whether family members of survey respondents themselves become subjects of the project and if they are subjects whether informed consent must be obtained for investigators to retain private information on these individuals. This article provides an analysis of the ethical issues and regulatory standards involved in this debate for consideration by investigators and institutional review boards. The analysis suggests that strong protections for the rights and welfare of subjects and their family members can be incorporated into survey and pedigree research protocols without hindering projects with extensive consent requirements.

Adaptive coping strategies of affected family members of a relative with substance misuse: A qualitative study.

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McCann, Terence V; Lubman, Dan I

2018-01-01

To explore the coping strategies used by affected family members of a relative with substance misuse. Families play an important role in supporting a relative with substance misuse. However, the experience often has an adverse effect on their general well-being, the extent of which depends largely on their coping strategies. An interpretative phenomenological analysis study. Data were collected between January - December 2015. Semistructured, audio-recorded qualitative interviews were conducted with 31 affected family members. Three main themes and related subthemes were abstracted from the data illustrating how participants coped with their relative's substance misuse: (1) Seeking timely access to evidence-based information; (2) Enhancing personal coping strategies and (3) Accessing informal and formal support. Greater investment is needed in support services for affected family members, particularly in regional and rural areas. A wide range of accessible evidence-based information and informal and formal support, including telephone and online support, is needed to assist them to cope in this crucial support-giving role. Affected family members need to adopt a flexible set of coping strategies while supporting a relative with substance misuse. Family and friends, alcohol and other drug services, mental health nurses and other clinicians have a critical role providing emotional, instrumental and educational support to affected family members to enhance their adaptive coping strategies. © 2017 John Wiley & Sons Ltd.

Social worker involvement in identifying problems and needs of families with mentally ill members

Directory of Open Access Journals (Sweden)

Kovalčíková N.

2016-01-01

Full Text Available The aim of the current study was to explore the impact of schizophrenia on the life of the patient and his family, in particular, which problems people with schizophrenia and their families face. We applied a qualitative research strategy and method of semi-structured interview. Qualitative analysis of the data demonstrated barriers in the working and financial areas of life of people with schizophrenia. In addition, schizophrenia negatively affects social interactions of patients which lead to their social isolation which is also derived from barriers at work. Families with this kind of patient suffer mainly in the economic sphere of life with the necessity to leave the job and take care of an ill member. These families also suffer from isolation, restriction of social contacts, reduction of free-time activities, and many other problems included within the barriers in social interactions. Family members suffer psychological stress and they badly cope with the situation if the ill member is hospitalized. In addition, the family meets with the structural discrimination in the form of lack of information about the disease, lack of day care centres network and similar barriers in communication with physicians and the other professionals.

Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members

International Nuclear Information System (INIS)

Bitterman, P.B.; Rennard, S.I.; Keogh, B.A.; Wewers, M.D.; Adelberg, S.; Crystal, R.G.

1986-01-01

We evaluated 17 clinically unaffected members of three families with an autosomal dominant form of idiopathic pulmonary fibrosis for evidence of alveolar inflammation. Each person in the study was examined by gallium-67 scanning for a general estimate of pulmonary inflammation, and by bronchoalveolar lavage for characterization of the types of recovered cells and their state of activation. Eight of the 17 subjects had evidence of alveolar inflammation on the lavage studies. Supporting data included increased numbers of neutrophils and activated macrophages that released one or more neutrophil chemoattractants, and growth factors for lung fibroblasts--findings similar to those observed in patients with overt idiopathic pulmonary fibrosis. Four of these eight also had a positive gallium scan; in all the other clinically unaffected subjects the scan was normal. During a follow-up of two to four years in seven of the eight subjects who had evidence of inflammation, no clinical evidence of pulmonary fibrosis has appeared. These results indicate that alveolar inflammation occurs in approximately half the clinically unaffected family members at risk of inheriting autosomal dominant idiopathic pulmonary fibrosis. Whether these persons with evidence of pulmonary inflammation but no fibrosis will proceed to have clinically evident pulmonary fibrosis is not yet known

Torn between dual roles: the experiences of nurse-family members when a loved one is hospitalised in a critical condition.

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Giles, Tracey M; Williamson, Victoria

2015-11-01

To understand and interpret the experiences of nurse-family members when a family member or loved one is hospitalised in a critical condition. Having a family member hospitalised with a critical illness is a traumatic stressor, often with long-term sequelae. Providing holistic care for family members who are also nurses makes the provision of care more complex because of their professional expertise; yet few studies have explored this issue. In this descriptive study, qualitative data were collected using a questionnaire and analysed using van Manen's (Researching Lived Experience: Human Science for an Action Sensitive Pedagogy, 1990, State University of New York Press, London, ON) six-step approach. Twenty nurse-family members completed an online questionnaire in June 2013. Qualitative findings from 19 participants were included in the analysis. The phenomenological analysis approach described by van Manen (Researching Lived Experience: Human Science for an Action Sensitive Pedagogy, 1990, State University of New York Press, London, ON) was used to describe and interpret nurse-family member experiences. Nurse-family members experience significant dual role conflicts between their personal and professional personas due to their specialised knowledge, need for watchfulness and competing expectations. Our findings describe how dual role conflicts developed and were managed, and reveal the resultant emotional toll and psychological distress as nurse-family members struggled to resolve these conflicts. Nurse-family members require a different type of care than general public family members, yet their unique needs are often unmet, leading to increased anxiety and distress that could potentially be minimised. An increased awareness and emphasis on the nurse-family member experience can ensure health care professionals are better placed to provide appropriate and targeted care to minimise distressing dual role conflicts. There is a need for targeted and specialised

The effect of an anger management program for family members of patients with alcohol use disorders.

Science.gov (United States)

Son, Ju-Young; Choi, Yun-Jung

2010-02-01

This study was aimed to test the structured anger management nursing program for the family members of patients with alcohol use disorders (AUDs). Families with the AUDs suffer from the dysfunctional family dynamic caused by the patients' deteriorative disease processes of alcohol dependence. Family members of AUDs feel bitter and angry about the uncontrolled behaviors and relapses of the patients in spite of great effort for a long time. This chronic anger threatens the optimal function of the family as well as obstructs the family to help the patients who are suffering from AUDs. Sixty three subjects were participated who were referred from community mental health centers, alcohol consultation centers, and an alcohol hospital in Korea. Pre-post scores of the Korean Anger Expression Inventory were used to test the program. An anger management program was developed and implemented to promote anger expression and anger management for the family members of the patients with AUDs. The total anger expression score of the experimental group was significantly more reduced as compared with that of the control group. Subjects in the experimental group reported after the program that they felt more comfortable and their life was changed in a better way. The anger management program was effective to promote anger expression and anger management for family members of AUDs. Nurses need to include family members in their nursing process as well as to care of patients with AUDs to maximize nursing outcome and patient satisfaction. 2010 Elsevier Inc. All rights reserved.

Stress Reduction in Postcardiac Surgery Family Members: Implementation of a Postcardiac Surgery Tool Kit.

Science.gov (United States)

Breisinger, Lauren; Macci Bires, Angela; Cline, Thomas W

The intensive care unit (ICU) can be a place of stress, anxiety, and emotional instability for both patients and families. Medical and nursing care during this acute time is patient focused, and family members are often left in the dark. Unintentional exclusion from information results in high levels of stress, anxiety, and uncertainty for families. Due to the acuity of illness, family members of cardiac surgery patients experience the highest levels of stress. Spouses may experience intense psychosomatic symptoms such as depression, anxiety, and fear for several months after the surgery. The purpose of this study was aimed at decreasing those feelings of anxiety in family members with postcardiac surgery through the use of a cardiac surgery tool kit. The study was a quality improvement project utilizing a convenience sample of 83 participants 18 years and older. Participants were asked to use the State Trait Anxiety Inventory (STAI) Form Y-1 (state anxiety) to rate their anxiety level preintervention and then again postintervention. Data were collected over a 6-month period. Descriptive data including age, education level, ethnicity, relationship, experience in the ICU, and active diagnoses of mental disorders did not affect the changes in the pre- and posttest data. A paired t test was conducted on the sample to assess changes in state anxiety, using the STAI Form Y-1. The results were statistically significant (t = 11.97, df = 81, P family members of postcardiac surgery patients.

Perspectives of Family Members on Using Technology in Youth Mental Health Care: A Qualitative Study.

Science.gov (United States)

Lal, Shalini; Daniel, Winnie; Rivard, Lysanne

2017-06-23

Information and communication technologies (ICTs) are increasingly recognized as having an important role in the delivery of mental health services for youth. Recent studies have evaluated young people's access and use of technology, as well as their perspectives on using technology to receive mental health information, services, and support; however, limited attention has been given to the perspectives of family members in this regard. The aim of this study was to explore the perspectives of family members on the use of ICTs to deliver mental health services to youth within the context of specialized early intervention for a first-episode psychosis (FEP). Six focus groups were conducted with family members recruited from an early intervention program for psychosis. Twelve family members participated in the study (target sample was 12-18, and recruitment efforts took place over the duration of 1 year). A 12-item semistructured focus group guide was developed to explore past experiences of technology and recommendations for the use of technology in youth mental health service delivery. A qualitative thematic analysis guided the identification and organization of common themes and patterns identified across the dataset. Findings were organized by the following themes: access and use of technology, potential negative impacts of technology on youth in recovery, potential benefits of using technology to deliver mental health services to youth, and recommendations to use technology for (1) providing quality information in a manner that is accessible to individuals of diverse socioeconomic backgrounds, (2) facilitating communication with health care professionals and services, and (3) increasing access to peer support. To our knowledge, this is among the first (or the first) to explore the perspectives of family members of youth being treated for FEP on the use of technology for mental health care. Our results highlight the importance of considering diverse experiences

Cardiopulmonary resuscitation training of family members before hospital discharge using video self-instruction: a feasibility trial.

Science.gov (United States)

Blewer, Audrey L; Leary, Marion; Decker, Christopher S; Andersen, James C; Fredericks, Amanda C; Bobrow, Bentley J; Abella, Benjamin S

2011-09-01

Bystander cardiopulmonary resuscitation (CPR) is a crucial therapy for sudden cardiac arrest (SCA), yet rates of bystander CPR are low. This is especially the case for SCA occurring in the home setting, as family members of at-risk patients are often not CPR trained. To evaluate the feasibility of a novel hospital-based CPR education program targeted to family members of patients at increased risk for SCA. Prospective, multicenter, cohort study. Inpatient wards at 3 hospitals. Family members of inpatients admitted with cardiac-related diagnoses. Family members were offered CPR training via a proctored video-self instruction (VSI) program. After training, CPR skills and participant perspectives regarding their training experience were assessed. Surveys were conducted one month postdischarge to measure the rate of "secondary training" of other individuals by enrolled family members. At the 3 study sites, 756 subjects were offered CPR instruction; 280 agreed to training and 136 underwent instruction using the VSI program. Of these, 78 of 136 (57%) had no previous CPR training. After training, chest compression performance was generally adequate (mean compression rate 90 ± 26/minute, mean depth 37 ± 12 mm). At 1 month, 57 of 122 (47%) of subjects performed secondary training for friends or family members, with a calculated mean of 2.1 persons trained per kit distributed. The hospital setting offers a unique "point of capture" to provide CPR instruction to an important, undertrained population in contact with at-risk individuals. Copyright © 2010 Society of Hospital Medicine.

The Relationship Between the Perceived Risk of Harm by a Family Member with Mental Illness and the Family Experience.

Science.gov (United States)

Katz, Judith; Medoff, Deborah; Fang, Li Juan; Dixon, Lisa B

2015-10-01

Family members of people with serious mental illness (SMI) at times report that they act to stop their ill relative from self harm or harming others. This study examines the relationship between the perception of risk of harm and family distress, burden, empowerment, coping, physical and mental health, appraisal of the caregiving experience, family communication, and family functioning. The study is a secondary analysis of baseline data collected for a randomized study of the family-to-family peer driven education program (FTF). Four hundred thirty-four enrolled individuals who were seeking to participate in FTF completed survey items that asked if they had tried to stop or prevent their ill family member from harming themselves or others in the last 30 days. Participants who perceived a recent risk of harm by their ill relative reported more negative appraisals of caregiving, greater psychological distress, poorer mental health and greater objective burden compared with those who did not perceive a recent risk of harm. The results suggest that families of persons with SMI should be asked about perceived risk of harm to self and others, and the presence of perceived risk of harm should serve as a red flag indicating the need for further evaluation of the family experience and additional support for the family.

Size distributions of member asteroids in seven Hirayama families

International Nuclear Information System (INIS)

Mikami, Takao; Ishida, Keiichi.

1990-01-01

The size distributions of asteroids in the seven Hirayama families are studied for newly assigned member asteroids in the diameter range of about 10 to 100 km. The size distributions for the different families are expressed by the power-law functions with distinctly different power-law indices. The power-law indices for families with small mean orbital inclinations are about 2.5 to 3.0. On the other hand, the power-law indices for families with large mean orbital inclinations are significantly smaller than 2.5. This indicates that the smaller asteroids were removed preferentially from these families after their formation. It is thought that the smaller asteroids left behind the families were dispersed into the main belt. It is consistent with the fact that the power-law index for the size distribution of asteroids with diameters smaller than 25 km in the main belt is larger than the power-law indices for the size distributions of asteroids in the families. This segregation due to the asteroid size can be caused by a drag force caused by the ambient matter deposited on the invariable place of the solar system during the early evolutionary stage. (author)

"You Needed to Rehab...Families as Well": Family Members' Own Goals for Aphasia Rehabilitation

Science.gov (United States)

Howe, Tami; Davidson, Bronwyn; Worrall, Linda; Hersh, Deborah; Ferguson, Alison; Sherratt, Sue; Gilbert, Jocelyn

2012-01-01

Background: Aphasia affects family members in addition to the individuals with the communication disorder. In order to develop appropriate services for the relatives of people with aphasia post-stroke, their rehabilitation goals need to be identified. Aim: The aim of the current investigation was to identify the rehabilitation goals that family…

RFLP's for the human pepsinogen A haplotypes (PGA)

Energy Technology Data Exchange (ETDEWEB)

Taggart, R T; Boudi, F B; Bell, G I

1988-10-11

PGA 101 is a 1340 bp cDNA clone containing exons 1-9 of the predicted human pepsinogen A coding sequence. Two distinct polymorphisms are detected with EcoRI and Bg1 II. Analysis with these enzymes provides for discrimination of the PGA haplotypes A, B, and C containing three, two and one PGA genes respectively. The PGA complex is located at 11q13. Mendelian inheritance was demonstrated in 20 families.

Patients' experiences of care and support at home after a family member's participation in an intervention during palliative care.

Science.gov (United States)

Norinder, Maria; Goliath, Ida; Alvariza, Anette

2017-06-01

Patients who receive palliative home care are in need of support from family members, who take on great responsibility related to caregiving but who often feel unprepared for this task. Increasing numbers of interventions aimed at supporting family members in palliative care have been described and evaluated. It is not known whether and how these interventions actually affect the care or support provided to a patient, even though it has been suggested that family members would be likely to provide better care and support and thus allow for positive experiences for patients. However, this has not been studied from the perspective of the patients themselves. The objective of our study was to explore patients' experiences of care and support at home after family members' participation in a psychoeducational intervention during palliative care. Our study took a qualitative approach, and interviews were conducted with 11 patients whose family members had participated in a psychoeducational intervention during palliative home care. The interviews were analyzed employing interpretive description. Patients' experiences were represented by three themes: "safe at home," "facilitated and more honest communication," and "feeling like a unit of care." Patients felt that their needs were better met and that family members became more confident at home without risking their own health. Patients felt relieved when family members were given the opportunity to talk and reflect with others and hoped that the intervention would contribute to more honest communications between themselves and their family members. Further, it was of great importance to patients that family members receive attention from and be confirmed and supported by healthcare professionals. Our findings show how an intervention targeted at family members during palliative home care also benefits the patients.

Predictors of posttraumatic stress and quality of life in family members of chronically critically ill patients after intensive care.

Science.gov (United States)

Wintermann, Gloria-Beatrice; Weidner, Kerstin; Strauß, Bernhard; Rosendahl, Jenny; Petrowski, Katja

2016-12-01

Prolonged mechanical ventilation for acute medical conditions increases the risk of chronic critical illness (CCI). Close family members are confronted with the life-threatening condition of the CCI patients and are prone to develop posttraumatic stress disorder affecting their health-related quality of life (HRQL). Main aim of the present study was to investigate patient- and family-related risk factors for posttraumatic stress and decreased HRQL in family members of CCI patients. In a cross-sectional design nested within a prospective longitudinal cohort study, posttraumatic stress symptoms and quality of life were assessed in family members of CCI patients (n = 83, aged between 18 and 72 years) up to 6 months after transfer from ICU at acute care hospital to post-acute rehabilitation. Patients admitted a large rehabilitation hospital for ventilator weaning. The Posttraumatic Stress Scale-10 and the Euro-Quality of life-5D-3L were applied in both patients and their family members via telephone interview. A significant proportion of CCI patients and their family members (14.5 and 15.7 %, respectively) showed clinically relevant scores of posttraumatic stress. Both CCI patients and family members reported poorer HRQL than a normative sample. Factors independently associated with posttraumatic stress in family members were the time following ICU discharge (β = .256, 95 % confidence interval .053-.470) and the patients' diagnosis of PTSD (β = .264, 95 % confidence interval .045-.453). Perceived satisfaction with the relationship turned out to be a protective factor for posttraumatic stress in family members of CCI patients (β = -.231, 95 % confidence interval -.423 to -.015). Regarding HRQL in family members, patients' acute posttraumatic stress at ICU (β = -.290, 95 % confidence interval -.360 to -.088) and their own posttraumatic stress 3 to 6 months post-transfer (β = -.622, 95 % confidence interval -.640 to -.358) turned out to be

Use of augmentative and alternative communication strategies by family members in the intensive care unit.

Science.gov (United States)

Broyles, Lauren M; Tate, Judith A; Happ, Mary Beth

2012-03-01

Little is known about communication between patients and their family members during critical illness and mechanical ventilation in the intensive care unit, including use of augmentative and alternative communication tools and strategies. To identify (1) which augmentative and alternative communication tools families use with nonspeaking intensive care patients and how they are used, and (2) what families and nurses say about communication of family members with nonspeaking intensive care patients. A qualitative secondary analysis was conducted of existing data from a clinical trial testing interventions to improve communication between nurses and intensive care patients. Narrative study data (field notes, intervention logs, nurses' interviews) from 127 critically ill adults were reviewed for evidence of family involvement with augmentative and alternative communication tools. Qualitative content analysis was applied for thematic description of family members' and nurses' accounts of patient-family communication. Family involvement with augmentative and alternative communication tools was evident in 44% of the 93 patients who completed the parent study protocol. Spouses or significant others communicated with patients most often. Main themes describing patient-family communication included (1) families being unprepared and unaware, (2) families' perceptions of communication effectiveness, (3) nurses deferring to or guiding patient-family communication, (4) patients' communication characteristics, and (5) families' experience with and interest in augmentative and alternative communication tools. Assessment by skilled bedside clinicians can reveal patients' communication potential and facilitate useful augmentative and alternative communication tools and strategies for patients and their families.

Involvement of Family Members and Professionals in Older Women's Post-Fall Decision Making.

Science.gov (United States)

Bergeron, Caroline D; Hilfinger Messias, DeAnne K; Friedman, Daniela B; Spencer, S Melinda; Miller, Susan C

2018-03-01

This exploratory, descriptive study examined involvement of family members and professionals in older women's post-fall decision making. We conducted semistructured interviews with 17 older women who had recently fallen and 11 individuals these women identified as being engaged in their post-fall decision-making processes. Qualitative data analysis involved open and axial coding and development of themes. After experiencing a fall, these older women's openness to others' opinions and advice; their assessments of types and credibility of potential information sources; and the communication practices they established with these sources influenced how they accessed, accepted, or rejected information from family members and professionals. Increased awareness of the involvement of others in post-fall decision making could enhance communication with older women who fall. Developing and implementing practical strategies to help family members and professionals initiate and engage in conversations about falls and their consequences could lead to more open decision making and improved post-fall quality of life among older women.

The willingness and actual situation of Chinese cancer patients and their family members participating in medical decision-making.

Science.gov (United States)

Zhang, Jie; Yang, Dan; Deng, Yaotiao; Wang, Ying; Deng, Lei; Luo, Xinmei; Zhong, Wuning; Liu, Jie; Wang, Yuqing; Jiang, Yu

2015-12-01

In China, not only patients and physicians are involved in medical decision-making (MDM) but also the patients' family members. The objective is to investigate the willingness and actual situation of cancer patients and their family members participating in the MDM process. In this cross-sectional study, questionnaires were administered to 247 pairs of cancer inpatients and their relatives. Information regarding participants' willingness and actual experience during the decision-making process was documented. Eligible participants were cancer inpatients or their relatives, 18 years of age or older, and informed of the cancer diagnosis. All the patients should have received chemotherapy. The effective response rate was 72.9% (180/247). Over half of the patients (53.3%) and family members (57.8%) were willing to be part of the MDM process. In contrast, only 35.0% of patients and 46.1% of family members actually experienced this process (p = 0.001 and p = 0.011, respectively). Fewer family members (42.2%) than patients (53.3%) believed that patients should be involved in the MDM process (p family (odds ratio 2.577, 95% CI 1.198-5.556, p = 0.015) experienced more involvement in MDM. Although more than half of Chinese cancer patients and family members wanted to be part of MDM, the actual participation was below their expectation. Majority of family members do not want the patients to be involved in the process of MDM. Copyright © 2015 John Wiley & Sons, Ltd.

An Uncharacterized Member of the Ribokinase Family in Thermococcus kodakarensis Exhibits myo-Inositol Kinase Activity*

Science.gov (United States)

Sato, Takaaki; Fujihashi, Masahiro; Miyamoto, Yukika; Kuwata, Keiko; Kusaka, Eriko; Fujita, Haruo; Miki, Kunio; Atomi, Haruyuki

2013-01-01

Here we performed structural and biochemical analyses on the TK2285 gene product, an uncharacterized protein annotated as a member of the ribokinase family, from the hyperthermophilic archaeon Thermococcus kodakarensis. The three-dimensional structure of the TK2285 protein resembled those of previously characterized members of the ribokinase family including ribokinase, adenosine kinase, and phosphofructokinase. Conserved residues characteristic of this protein family were located in a cleft of the TK2285 protein as in other members whose structures have been determined. We thus examined the kinase activity of the TK2285 protein toward various sugars recognized by well characterized ribokinase family members. Although activity with sugar phosphates and nucleosides was not detected, kinase activity was observed toward d-allose, d-lyxose, d-tagatose, d-talose, d-xylose, and d-xylulose. Kinetic analyses with the six sugar substrates revealed high Km values, suggesting that they were not the true physiological substrates. By examining activity toward amino sugars, sugar alcohols, and disaccharides, we found that the TK2285 protein exhibited prominent kinase activity toward myo-inositol. Kinetic analyses with myo-inositol revealed a greater kcat and much lower Km value than those obtained with the monosaccharides, resulting in over a 2,000-fold increase in kcat/Km values. TK2285 homologs are distributed among members of Thermococcales, and in most species, the gene is positioned close to a myo-inositol monophosphate synthase gene. Our results suggest the presence of a novel subfamily of the ribokinase family whose members are present in Archaea and recognize myo-inositol as a substrate. PMID:23737529

The challenges of reintegration for service members and their families.

Science.gov (United States)

Danish, Steven J; Antonides, Bradley J

2013-10-01

The ongoing wars in Afghanistan and Iraq have posed a number of reintegration challenges to service members. Much of the research focuses on those service members experiencing psychological problems and being treated at the VA. In this article, we contend that much of the distress service members experience occurs following deployment and is a consequence of the difficulties encountered during their efforts to successfully reintegrate into their families and communities. We propose a new conceptual framework for intervening in this reintegration distress that is psycho-educational in nature as well as a new delivery model for providing such services. An example of this new intervention framework is presented. © 2013 American Orthopsychiatric Association.

[Family members' experiences of caring for persons with dementia and outreach counseling--an interpretative phenomenological study].

Science.gov (United States)

Vögeli, Samuel; Frei, Irena Anna; Spichiger, Elisabeth

2016-01-01

Almost two-thirds of the 110,000 people living with dementia in Switzerland receive home care from family members. Outreach counselling can reduce the burden for family caregivers and delay nursing home placement. However, little is known of how this works and how caregivers experience the counselling. The Canton of Aargau Alzheimer's Association has been conducting a pilot project to demonstrate the necessity, effectiveness and practicability of outreach counselling in (their canton). As a part of the evaluation of the project this study explored how family members experience the process of caring for a relative with dementia and outreach counselling. Interpretive phenomenology–a qualitative approach–was used to analyse data from interviews with twelve family caregivers. Most family members felt supported in caregiving by outreach counselling. Three aspects of the counselling were especially important to the participants: being understood and taken seriously by the counsellor; receiving answers to their most pressing questions concerning the illness and being supported when difficult decision had to be taken; regaining personal time and learning how to better interact with the person with dementia. Two participants would have wished for more help by the counsellor. To meet the needs of the family members, consultants should have sufficient experience in dementia patient care and should be strongly networked across the local health and welfare system. This study shows that family members can experience outreach counselling as a great support in their caregiving roles.

Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members.

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Deneka, Alexander; Korobeynikov, Vladislav; Golemis, Erica A

2015-10-01

The CAS (Crk-associated substrate) adaptor protein family consists of four members: CASS1/BCAR1/p130Cas, CASS2/NEDD9/HEF1/Cas-L, CASS3/EFS/Sin and CASS4/HEPL. While CAS proteins lack enzymatic activity, they contain specific recognition and binding sites for assembly of larger signaling complexes that are essential for cell proliferation, survival, migration, and other processes. All family members are intermediates in integrin-dependent signaling pathways mediated at focal adhesions, and associate with FAK and SRC family kinases to activate downstream effectors regulating the actin cytoskeleton. Most studies of CAS proteins to date have been focused on the first two members, BCAR1 and NEDD9, with altered expression of these proteins now appreciated as influencing disease development and prognosis for cancer and other serious pathological conditions. For these family members, additional mechanisms of action have been defined in receptor tyrosine kinase (RTK) signaling, estrogen receptor signaling or cell cycle progression, involving discrete partner proteins such as SHC, NSP proteins, or AURKA. By contrast, EFS and CASS4 have been less studied, although structure-function analyses indicate they conserve many elements with the better-known family members. Intriguingly, a number of recent studies have implicated these proteins in immune system function, and the pathogenesis of developmental disorders, autoimmune disorders including Crohn's disease, Alzheimer's disease, cancer and other diseases. In this review, we summarize the current understanding of EFS and CASS4 protein function in the context of the larger CAS family group. Copyright © 2015 Elsevier B.V. All rights reserved.

Perceived Intrafamilial Connectedness and Autonomy in Families with and without an Anxious Family Member: A Multiple Informant Approach

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de Albuquerque, Jiske E. G.; Schneider, Silvia

2012-01-01

Perceived intrafamilial "emotional connectedness" and "autonomy" were investigated within families with and without an anxious family member using a multiple informant approach. The sample consisted of 32 mothers with a current anxiety disorder and 56 controls, their partners, and their anxious and nonanxious teenage children. No differences were…

FGFR Family Members Protein Expression as Prognostic Markers in Oral Cavity and Oropharyngeal Squamous Cell Carcinoma

NARCIS (Netherlands)

Koole, Koos; Clausen, Martijn J. A. M.; van Es, Robert J. J.; van Kempen, Pauline M. W.; Melchers, Lieuwe J.; Koole, Ron; Langendijk, Johannes A.; van Diest, Paul J.; Roodenburg, Jan L. N.; Schuuring, Ed; Willems, Stefan M.

Introduction Fibroblast growth factor receptor family member proteins (FGFR1-4) have been identified as promising novel therapeutic targets and prognostic markers in a wide spectrum of solid tumors. The present study investigates the expression and prognostic value of four FGFR family member

Marriage & Family Therapy Faculty Memberâ s Balance of Work and Personal Life

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Matheson, Jennifer L.

2002-01-01

This mixed-method study examines the work and personal life balance of Marriage & Family Therapy faculty members across the U.S., 16 of whom were interviewed to gain a deeper understanding of their work and personal life balance issues. Of those, six felt they had good balance, six felt they had poor balance, and four were â middle of the road.â More men than women felt they had good balance. Faculty members indicated external and internal indicators such as family and workplace message...

Quotidian of accompanying family members in an environment of care: the emergence of hospital tribes

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Silvia da Silva Santos Passos

2016-06-01

Full Text Available ABSTRACT OBJECTIVE Understand the quotidian relationships of accompanying family members in an environment of care, which are close to the metaphor of a tribe in hospital environment. METHODQualitative study with data gathered from semi-structured interviews and observations with 16 family members accompanying hospitalized individuals with dependence on self-care. Data were submitted to thematic analysis, and analyzed through the metaphor of "tribe" proposed by comprehensive sociology. RESULTS Family members build up social clusters around caring, where we find traits typical of tribes: emotional ambience; solidarity based on links of sympathy and mutual assistance; an affectual nebula in the process of interaction; a logic of fusion in tactile relations; and communion/religiosity in the process of connecting in a collective identity. CONCLUSION In the presence of tragedy, families build social clusters similar to tribes having care as a totem.

The Importance of Situational Awareness: A Qualitative Study of Family Members' and Nurses' Perspectives on Teaching During Family-Centered Rounds.

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Beck, Jimmy; Meyer, Rebecca; Kind, Terry; Bhansali, Priti

2015-10-01

Family-centered rounds (FCR) has become a leading model for pediatric inpatient rounding. During FCR, faculty must balance trainees' educational needs with patient care priorities. Investigators have examined trainees' views on effective teaching during FCR, but none have evaluated what family members and nurses consider to be effective teaching behaviors of attending physicians. The authors sought to explore family members' and nurses' perspectives on effective teaching behaviors during FCR. The authors conducted (2012-2013) a qualitative study of families and nurses at an academic children's hospital where FCR is the standard model for inpatient rounds. Nurses and families familiar with FCR participated in separate focus groups. The authors reviewed focus group transcripts using techniques of qualitative content analysis; they generated codes and developed categories, supported by illustrative quotations. Fifteen nurses and 13 family members participated in the focus groups. The unifying theme was that situational awareness on behalf of the attending physician is essential for FCR to be educational for all participants. The authors identified four categories of awareness-(1) cognitive factors, (2) logistics and time management, (3) physical environment, (4) emotional state-and developed a set of effective teaching strategies based on participants' comments. The findings of this study support previous work identifying effective FCR teaching strategies, but this study is the first to include the perspectives of families and nurses. The inclusion of these participants provides a framework for faculty development and training to improve the educational value of FCR.

Influence of Posttraumatic Stress Disorder of the Fathers on other Family MembersInfluence of Posttraumatic Stress Disorder of the Fathers on other Family Members

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Amra Zalihić

2008-02-01

Full Text Available The purpose of this work is to analyze the frequency of depression and anxiety and children behaviour in families whose heads of the family (father suffer from post-traumatic stress disorder (PTSD. The study was conducted from September 2005 until July 2006, with patients living in Mostar. The frequency of depression and anxiety in family members older than 18 years, and changes of the behaviour in children younger than 18 years of age were measured. The data were collected from 60 men and their families who had been diagnosed with PTSD by their psychiatrist. The control group was formed using matching criteria (age of the head of the family, his education, religion, family income and number of children. In this study, three questionnaires were used: one specially designed for this study, covering general information about family members, and a personal opinion of each family member about the family situation and relations within the family; Hopkins symptoms checklist - 25 (HSCL-25 for evaluation of depression and anxiety for subjects older than 18; and General Health Questionnaire (GHQ for children 5 to 18 years of age, which was completed by their mothers.More wives from the PTSD families had depression than wives from the controlled group (χ2=21,099; df=1; P<0,050. There was no difference between groups in frequency of depression and anxiety (χ2=0,003; df=1; P=0,959 for children older than 18 years. No difference in answers between groups of children younger than 18 years were found in the General Health Questionnaire. However, we found significant differences in separate questions. Mothers, who filled the questionnaire form, reported that children from fathers who had PTSD experienced stomach pain more often (χ2=10,474;df=2; P=0,005, eating problems (χ2=14,204;df=2; P=0,001 and breathing problems (χ2=9,748;df=2; P=0,008, than children from fathers who did not have PTSD. Children from fathers with PTSD were more easily upset (χ2

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

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Kwok, Chau-To; Vogelaar, Ingrid P; van Zelst-Stams, Wendy A; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J; Rapkins, Robert W; Ward, Robyn L; Chun, Nicolette; Ford, James M; Ladabaum, Uri; McKinnon, Wendy C; Greenblatt, Marc S; Hitchins, Megan P

2014-05-01

Germline mutations of the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2, and deletions affecting the EPCAM gene adjacent to MSH2, underlie Lynch syndrome by predisposing to early-onset colorectal, endometrial and other cancers. An alternative but rare cause of Lynch syndrome is constitutional epimutation of MLH1, whereby promoter methylation and transcriptional silencing of one allele occurs throughout normal tissues. A dominantly transmitted constitutional MLH1 epimutation has been linked to an MLH1 haplotype bearing two single-nucleotide variants, NM_000249.2: c.-27C>A and c.85G>T, in a Caucasian family with Lynch syndrome from Western Australia. Subsequently, a second seemingly unrelated Caucasian Australian case with the same MLH1 haplotype and concomitant epimutation was reported. We now describe three additional, ostensibly unrelated, cancer-affected families of European heritage with this MLH1 haplotype in association with constitutional epimutation, bringing the number of index cases reported to five. Array-based genotyping in four of these families revealed shared haplotypes between individual families that extended across ≤2.6-≤6.4 megabase regions of chromosome 3p, indicating common ancestry. A minimal ≤2.6 megabase founder haplotype common to all four families was identified, which encompassed MLH1 and additional flanking genes and segregated with the MLH1 epimutation in each family. Our findings indicate that the MLH1 c.-27C>A and c.85G>T variants are borne on a European ancestral haplotype and provide conclusive evidence for its pathogenicity via a mechanism of epigenetic silencing of MLH1 within normal tissues. Additional descendants bearing this founder haplotype may exist who are also at high risk of developing Lynch syndrome-related cancers.

Decision-Making of Patients With Implantable Cardioverter-Defibrillators at End of Life: Family Members' Experiences.

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Lee, Mei Ching; Sulmasy, Daniel P; Gallo, Joseph; Kub, Joan; Hughes, Mark T; Russell, Stuart; Kellogg, Anela; Owens, Sharon G; Terry, Peter; Nolan, Marie T

2017-07-01

Many patients with advanced heart failure (HF) experience the life-extending benefits of implantable cardioverter-defibrillators (ICD), but at the end stage of HF, patients may experience shocks with increasing frequency and change the plan for end-of-life (EOL) care including the deactivation of the ICD. This report describes family members' experiences of patients with ICD making decisions at EOL. Understanding the decision-making of patients with ICD at EOL can promote informed decision-making and improve the quality of EOL care. This pilot study used a mixed methods approach to test the effects of a nurse-guided discussion in decision-making about ICD deactivation (turning off the defibrillation function) at the EOL. Interviews were conducted, audiotaped, and transcribed in 2012 to 2013 with 6 family members of patients with advanced HF and ICDs. Three researchers coded the data and identified themes in 2014. Three main themes described family members' experiences related to patients having HF with ICDs making health-care decision at EOL: decision-making preferences, patients' perception on ICD deactivation, and communication methods. Health-care providers need to have knowledge of patients' decision-making preferences. Preferences for decision-making include the allowing of appropriate people to involve and encourages direct conversation with family members even when advance directives is completed. Information of ICD function and the option of deactivation need to be clearly delivered to patients and family members. Education and guidelines will facilitate the communication of the preferences of EOL care.

Patient and family member perspectives on searching for cancer clinical trials: A qualitative interview study.

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Ridgeway, Jennifer L; Asiedu, Gladys B; Carroll, Katherine; Tenney, Meaghan; Jatoi, Aminah; Radecki Breitkopf, Carmen

2017-02-01

Clinical trials are vital in the context of ovarian cancer and may offer further treatment options during disease recurrence, yet enrollment remains low. Understanding patient and family member experiences with identifying trials can inform engagement and education efforts. Interviews were conducted with 33 patients who had experience with clinical trial conversations and 39 nominated family members. Thematic analysis examined experiences and generated findings for clinical practice. Trial conversations with providers at diagnosis were uncommon and often overwhelming. Most participants delayed engagement until later in the disease course. With hindsight, though, some wished they considered trials earlier. Difficulty identifying appropriate trials led some to defer searching to providers, but then they worried about missed opportunities. Most family members felt unqualified to search. Trial conversations during clinical encounters should start early and include specifying search responsibilities of providers, patients, and family. Patients and family members can be engaged in searches but need guidance. Trials should be discussed throughout the disease course, even if patients are not ready to participate or are not making a treatment decision. Education should focus on identifying trials that meet search criteria. Transparency regarding each individual's role in identifying trials is critical. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Family members' experiences with intensive care unit diaries when the patient does not survive.

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Johansson, Maria; Wåhlin, Ingrid; Magnusson, Lennart; Runeson, Ingrid; Hanson, Elizabeth

2018-03-01

The aim of the study was to explore how family members experienced the use of a diary when a relative does not survive the stay in the intensive care unit (ICU). A qualitative method with a hermeneutic approach was used. Nine participants who read/wrote eight diaries in total were interviewed. The collected data were analysed using a hermeneutic technique inspired by Geanellos. The analysis revealed an overall theme 'the diary was experienced as a bridge connecting the past with the future', which was a metaphor referring to the temporal aspect where there was the period with the diary up until the patient's death and then the postbereavement period. The diary contributed to both a rational and emotional understanding of the death of the patient and disclosed glimmers of light that still existed before the illness deteriorated. Further, the diary bridged the space between family members themselves and between family and nursing staff. It helped to maintain a feeling of togetherness and engagement in the care of the patient which family members found comforting. Family members of nonsurvivors had a need to have the ICU time explained and expressed. The diary might work as a form of 'survival kit' to gain coherence and understanding; to meet their needs during the hospital stay; and, finally, to act as a bereavement support by processing the death of the patient. © 2017 Nordic College of Caring Science.

Co-ordinate regulation of cytokinin gene family members during flag leaf and reproductive development in wheat.

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Song, Jiancheng; Jiang, Lijun; Jameson, Paula Elizabeth

2012-06-06

As the global population continues to expand, increasing yield in bread wheat is of critical importance as 20% of the world's food supply is sourced from this cereal. Several recent studies of the molecular basis of grain yield indicate that the cytokinins are a key factor in determining grain yield. In this study, cytokinin gene family members in bread wheat were isolated from four multigene families which regulate cytokinin synthesis and metabolism, the isopentenyl transferases (IPT), cytokinin oxidases (CKX), zeatin O-glucosyltransferases (ZOG), and β-glucosidases (GLU). As bread wheat is hexaploid, each gene family is also likely to be represented on the A, B and D genomes. By using a novel strategy of qRT-PCR with locus-specific primers shared among the three homoeologues of each family member, detailed expression profiles are provided of family members of these multigene families expressed during leaf, spike and seed development. The expression patterns of individual members of the IPT, CKX, ZOG, and GLU multigene families in wheat are shown to be tissue- and developmentally-specific. For instance, TaIPT2 and TaCKX1 were the most highly expressed family members during early seed development, with relative expression levels of up to 90- and 900-fold higher, respectively, than those in the lowest expressed samples. The expression of two cis-ZOG genes was sharply increased in older leaves, while an extremely high mRNA level of TaGLU1-1 was detected in young leaves. Key genes with tissue- and developmentally-specific expression have been identified which would be prime targets for genetic manipulation towards yield improvement in bread wheat breeding programmes, utilising TILLING and MAS strategies.

Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study

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Gonzalez, Suzanne; Xu, Chun; Ramirez, Mercedes; Zavala, Juan; Armas, Regina; Contreras, Salvador A; Contreras, Javier; Dassori, Albana; Leach, Robin J; Flores, Deborah; Jerez, Alvaro; Raventós, Henriette; Ontiveros, Alfonso; Nicolini, Humberto; Escamilla, Michael

2013-01-01

Objectives Through recent genome-wide association studies (GWAS), several groups have reported significant association between variants in the alpha 1C subunit of the L-type voltage-gated calcium channel (CACNA1C) and bipolar disorder (BP) in European and European-American cohorts. We performed a family-based association study to determine whether CACNA1C is associated with BP in the Latino population. Methods This study consisted of 913 individuals from 215 Latino pedigrees recruited from the United States, Mexico, Guatemala, and Costa Rica. The Illumina GoldenGate Genotyping Assay was used to genotype 58 single-nucleotide polymorphisms (SNPs) that spanned a 602.9 kb region encompassing the CACNA1C gene including two SNPs (rs7297582 and rs1006737) previously shown to associate with BP. Individual SNP and haplotype association analyses were performed using Family-Based Association Test (version 2.0.3) and Haploview (version 4.2) software. Results An eight-locus haplotype block that included these two markers showed significant association with BP (global marker permuted p = 0.0018) in the Latino population. For individual SNPs, this sample had insufficient power (10%) to detect associations with SNPs with minor effect (odds ratio = 1.15). Conclusions Although we were not able to replicate findings of association between individual CACNA1C SNPs rs7297582 and rs1006737 and BP, we were able to replicate the GWAS signal reported for CACNA1C through a haplotype analysis that encompassed these previously reported significant SNPs. These results provide additional evidence that CACNA1C is associated with BP and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population. PMID:23437964

Haplotype frequencies at the DRD2 locus in populations of the East European Plain

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Mikulich Alexey I

2009-09-01

Full Text Available Abstract Background It was demonstrated previously that the three-locus RFLP haplotype, TaqI B-TaqI D-TaqI A (B-D-A, at the DRD2 locus constitutes a powerful genetic marker and probably reflects the most ancient dispersal of anatomically modern humans. Results We investigated TaqI B, BclI, MboI, TaqI D, and TaqI A RFLPs in 17 contemporary populations of the East European Plain and Siberia. Most of these populations belong to the Indo-European or Uralic language families. We identified three common haplotypes, which occurred in more than 90% of chromosomes investigated. The frequencies of the haplotypes differed according to linguistic and geographical affiliation. Conclusion Populations in the northwestern (Byelorussians from Mjadel', northern (Russians from Mezen' and Oshevensk, and eastern (Russians from Puchezh parts of the East European Plain had relatively high frequencies of haplotype B2-D2-A2, which may reflect admixture with Uralic-speaking populations that inhabited all of these regions in the Early Middle Ages.

Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies.

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Yang, Wanling; Wang, Zhanyong; Wang, Lusheng; Sham, Pak-Chung; Huang, Peng; Lau, Yu Lung

2008-12-01

With genotyping of high-density single nucleotide polymorphisms (SNPs) replacing that of microsatellite markers in linkage studies, it becomes possible to accurately determine the genomic regions shared identity by descent (IBD) by family members. In addition to evaluating the likelihood of linkage for a region with the underlining disease (the LOD score approach), an appropriate question to ask is what would be the expected number and sizes of IBD regions among the affecteds, as there could be more than one region reaching the maximum achievable LOD score for a given family. Here, we introduce a computer program to allow the prediction of the total number of IBD regions among family members and their sizes. Reversely, it can be used to predict the portion of the genome that can be excluded from consideration according to the family size and user-defined inheritance mode and penetrance. Such information has implications on the feasibility of conducting linkage analysis on a given family of certain size and structure or on a few small families when interfamily homogeneity can be assumed. It can also help determine the most relevant members to be genotyped for such a study. Simulation results showed that the IBD regions containing true mutations are usually larger than regions IBD due to random chance. We have made use of this feature in our program to allow evaluation of the identified IBD regions based on Bayesian probability calculation and simulation results.

Psychological crisis intervention for the family members of patients in a vegetative state

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Ya-Hong Li

2012-01-01

Full Text Available OBJECTIVES: Family members of patients in a vegetative state have relatively high rates of anxiety and distress. It is important to recognize the problems faced by this population and apply psychological interventions to help them. This exploratory study describes the psychological stress experienced by family members of patients in a vegetative state. We discuss the effectiveness of a psychological crisis intervention directed at this population and offer suggestions for future clinical work. METHODS: A total of 107 family members of patients in a vegetative state were included in the study. The intervention included four steps: acquisition of facts about each family, sharing their first thoughts concerning the event, assessment of their emotional reactions and developing their coping abilities. The Symptom Check List-90 was used to evaluate the psychological distress of the participants at baseline and one month after the psychological intervention. Differences between the Symptom Check List-90 scores at the baseline and follow-up evaluations were analyzed. RESULTS: All participants in the study had significantly higher Symptom Check List-90 factor scores than the national norms at baseline. There were no significant differences between the intervention group and the control group at baseline. Most of the Symptom Check List-90 factor scores at the one-month follow-up evaluation were significantly lower than those at baseline for both groups; however, the intervention group improved significantly more than the control group on most subscales, including somatization, obsessive-compulsive behavior, depression, and anxiety. CONCLUSION: The results of this study indicate that the four-step intervention method effectively improves the mental health of the family members who received this treatment and lessens the psychological symptoms of somatization, obsessive-compulsive behavior, depression and anxiety.

The impact of disease on family members: a critical aspect of medical care.

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Golics, Catherine Jane; Basra, Mohammad Khurshid Azam; Finlay, Andrew Yule; Salek, Sam

2013-10-01

Most existing health-related quality of life research concerns the impact of disease on patients. However, in several medical specialties including dermatology, oncology, and physical and mental disability, studies have been carried out investigating the impact of disease on the lives of families of patients. The aim of this paper is to review the literature which relates to the impact of disease on family members of patients. The OVIDSP Medline was selected as the primary database, Searches were limited to sources published in English. 158 papers were identified for review. The definition of "family" varied across the literature, and a broad definition was accepted in this review. This review shows that a wide variety of aspects of family members' lives can be affected, including emotional, financial, family relationships, education and work, leisure time, and social activities. Many of these themes are linked to one another, with themes including financial impact and social impact being linked to emotional impact. Some positive aspects were also identified from the literature, including family relationships growing stronger. Several instruments exist to measure the impact of illness on the family, and most are disease or specialty- specific. The impact of disease on families of patients is often unrecognised and underestimated. Taking into account the quality of life of families as well as patients can offer the clinician a unique insight into issues such as family relationships and the effect of treatment decisions on the patient's close social group of partner and family.

The spiritual struggle of anger toward God: a study with family members of hospice patients.

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Exline, Julie J; Prince-Paul, Maryjo; Root, Briana L; Peereboom, Karen S

2013-04-01

Anger toward God is a common form of spiritual struggle, one that people often experience when they see God as responsible for severe harm or suffering. The aim of this study was to assess the prevalence, correlates, and preferred coping strategies associated with anger toward God among family members of hospice patients. Teams from a large hospice in the midwestern United States distributed surveys, one per household, to family members of home-care patients. The survey assessed feelings toward God (anger/disappointment and positive feelings), depressive symptoms, religiosity, and perceived meaning. Participants also rated their interest in various strategies for coping with conflicts with God. Surveys (n=134) indicated that 43% of participants reported anger/disappointment toward God, albeit usually at low levels of intensity. Anger toward God was associated with more depressive symptoms, lower religiosity, more difficulty finding meaning, and belief that the patient was experiencing greater pain. Prayer was the most highly endorsed strategy for managing conflicts with God. Other commonly endorsed strategies included reading sacred texts; handling the feelings on one's own; and conversations with friends, family, clergy, or hospice staff. Self-help resources and therapy were less popular options. Anger toward God is an important spiritual issue among family members of hospice patients, one that is commonly experienced and linked with depressive symptoms. It is valuable for hospice staff to be informed about the issue of anger toward God, especially because many family members reported interest in talking with hospice team members about such conflicts.

Relationship between the depression status of patients with resectable non-small cell lung cancer and their family members in China.

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Wu, Xian-Ning; Su, Dan; Li, Hui-Ping; Wang, Wei-Li; Wu, Wei-Qin; Yang, Ya-Juan; Yu, Feng-Lei; Zhang, Jing-Ping

2013-10-01

Less work on depression status has been done with family members of patients with non-small cell lung cancer (NSCLC). This study investigated depression status of patients and their family members; and the relationship of the depression status between these two groups. This cross-sectional study enrolled 194 patients diagnosed with non-small cell lung cancer as well as their family members. In this study, a self-administered General Information Questionnaire was used to collect general information and the Self-rating Depression Scale (SDS) to assess depression status. Linear correlation analysis was used to probe the relationship of the depression status between patients and their family members. Of the 194 patients, 148 (76.3%) showed symptoms of depression. 148 (76.3%) family members had depression symptoms. The severity of depression in patients was positively correlated with that of family members (r = 0.577, p family members suffered depression, and the two were correlated. A prospective study might prove helpful in determining the real relationship existing between the two groups' mental status and whether early detection and intervention might ameliorate this current situation. Copyright © 2013 Elsevier Ltd. All rights reserved.

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

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Toomes, Carmel; Downey, Louise M; Bottomley, Helen M; Scott, Sheila; Woodruff, Geoffrey; Trembath, Richard C; Inglehearn, Chris F

2004-01-15

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous inherited blinding disorder of the retinal vascular system. To date three loci have been mapped: EVR1 on chromosome 11q, EVR2 on chromosome Xp, and EVR3 on chromosome 11p. The gene underlying EVR3 remains unidentified whilst the EVR2 gene, which encodes the Norrie disease protein (NDP), was identified over a decade ago. More recently, FZD4, the gene that encodes the Wnt receptor Frizzled-4, was identified as the mutated gene at the EVR1 locus. The purpose of this study was to screen FZD4 in a large family previously proven to be linked to the EVR1 locus. PCR products were generated using genomic DNA from affected family members with primers designed to amplify the coding sequence of FZD4. The PCR products were screened for mutations by direct sequencing. Genotyping was performed in all available family members using fluorescently labeled microsatellite markers from chromosome 11q. Sequencing of the EVR1 gene, FZD4, in this family identified no mutation. To investigate this family further we performed high-resolution genotyping with markers spanning chromosome 11q. Haplotype analysis excluded FZD4 as the mutated gene in this family and identified a candidate region approximately 10 cM centromeric to EVR1. This new FEVR locus is flanked by markers D11S1368 (centromeric) and D11S937 (telomeric) and spans approximately 15 cM. High-resolution genotyping and haplotype analysis excluded FZD4 as the defective gene in a family previously linked to the EVR1 locus. The results indicate that the gene mutated in this family lies centromeric to the EVR1 gene, FZD4, and is also genetically distinct from the EVR3 locus. This new locus has been designated EVR4 and is the fourth FEVR locus to be described.

Difficult relationships--interactions between family members and staff in long-term care.

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Norris, S

2000-01-01

Staff of long-term care facilities and family members have a common responsibility to ensure the best course of treatment and everyday care for residents who often cannot speak for themselves. Understanding the difference between instrumental and preservative care, and who the proper agent is to provide care in each category will not only improve staff/family interactions, but residential care in general. The Resident Enrichment and Activity Program improves the family/staff relationship obliquely by involving family in social activities; the Family Involvement in Care program, and the Patterns in Caregiving program directly target the relationship and involve the facility's administration to effect policy change.

Post-Traumatic Stress Symptoms in Post-ICU Family Members: Review and Methodological Challenges.

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Petrinec, Amy B; Daly, Barbara J

2016-01-01

Family members of intensive care unit (ICU) patients are at risk for symptoms of post-traumatic stress disorder (PTSD) following ICU discharge. The aim of this systematic review is to examine the current literature regarding post-ICU family PTSD symptoms with an emphasis on methodological issues in conducting research on this challenging phenomenon. An extensive review of the literature was performed confining the search to English language studies reporting PTSD symptoms in adult family members of adult ICU patients. Ten studies were identified for review published from 2004 to 2012. Findings demonstrate a significant prevalence of family PTSD symptoms in the months following ICU hospitalization. However, there are several methodological challenges to the interpretation of existing studies and to the conduct of future research including differences in sampling, identification of risk factors and covariates of PTSD, and lack of consensus regarding the most appropriate PTSD symptom measurement tools and timing. © The Author(s) 2014.

Expression of activator protein-1 (AP-1) family members in breast cancer

International Nuclear Information System (INIS)

Kharman-Biz, Amirhossein; Gao, Hui; Ghiasvand, Reza; Zhao, Chunyan; Zendehdel, Kazem; Dahlman-Wright, Karin

2013-01-01

The activator protein-1 (AP-1) transcription factor is believed to be important in tumorigenesis and altered AP-1 activity was associated with cell transformation. We aimed to assess the potential role of AP-1 family members as novel biomarkers in breast cancer. We studied the expression of AP-1 members at the mRNA level in 72 primary breast tumors and 37 adjacent non-tumor tissues and evaluated its correlation with clinicopathological parameters including estrogen receptor (ER), progesterone receptor (PR) and HER2/neu status. Expression levels of Ubiquitin C (UBC) were used for normalization. Protein expression of AP-1 members was assessed using Western blot analysis in a subset of tumors. We used student’s t-test, one-way ANOVA, logistic regression and Pearson’s correlation coefficient for statistical analyses. We found significant differences in the expression of AP-1 family members between tumor and adjacent non-tumor tissues for all AP-1 family members except Fos B. Fra-1, Fra-2, Jun-B and Jun-D mRNA levels were significantly higher in tumors compared to adjacent non-tumor tissues (p < 0.001), whilst c-Fos and c-Jun mRNA levels were significantly lower in tumors compared with adjacent non-tumor tissues (p < 0.001). In addition, Jun-B overexpression had outstanding discrimination ability to differentiate tumor tissues from adjacent non-tumor tissues as determined by ROC curve analysis. Moreover, Fra-1 was significantly overexpressed in the tumors biochemically classified as ERα negative (p = 0.012) and PR negative (p = 0.037). Interestingly, Fra-1 expression was significantly higher in triple-negative tumors compared with luminal carcinomas (p = 0.01). Expression levels of Fra-1 and Jun-B might be possible biomarkers for prognosis of breast cancer

The needs of family members of intensive care unit patients: A ...

African Journals Online (AJOL)

ARTICLE. 44 SAJCC November 2016, Vol. 32, No. 2. The needs of family members of intensive care unit patients: A ... loved one will be survival, disability or death.[1] .... the participants of this study (the constructivist paradigm, which was.

Haplotype analysis and a novel allele-sharing method refines a chromosome 4p locus linked to bipolar affective disorder.

Science.gov (United States)

Le Hellard, Stephanie; Lee, Andrew J; Underwood, Sarah; Thomson, Pippa A; Morris, Stewart W; Torrance, Helen S; Anderson, Susan M; Adams, Richard R; Navarro, Pau; Christoforou, Andrea; Houlihan, Lorna M; Detera-Wadleigh, Sevilla; Owen, Michael J; Asherson, Philip; Muir, Walter J; Blackwood, Douglas H R; Wray, Naomi R; Porteous, David J; Evans, Kathryn L

2007-03-15

Bipolar affective disorder (BPAD) and schizophrenia (SCZ) are common conditions. Their causes are unknown, but they include a substantial genetic component. Previously, we described significant linkage of BPAD to a chromosome 4p locus within a large pedigree (F22). Others subsequently have found evidence for linkage of BPAD and SCZ to this region. We constructed high-resolution haplotypes for four linked families, calculated logarithm of the odds (LOD) scores, and developed a novel method to assess the extent of allele sharing within genes between the families. We describe an increase in the F22 LOD score for this region. Definition and comparison of the linked haplotypes allowed us to prioritize two subregions of 3.8 and 4.4 Mb. Analysis of the extent of allele sharing within these subregions identified 200 kb that shows increased allele sharing between families. Linkage of BPAD to chromosome 4p has been strengthened. Haplotype analysis in the additional linked families refined the 20-Mb linkage region. Development of a novel allele-sharing method allowed us to bridge the gap between conventional linkage and association studies. Description of a 200-kb region of increased allele sharing prioritizes this region, which contains two functional candidate genes for BPAD, SLC2A9, and WDR1, for subsequent studies.

The Importance of Older Family Members in Providing Social Resources and Promoting Cancer Screening in Families with a Hereditary Cancer Syndrome

Science.gov (United States)

Ashida, Sato; Hadley, Donald W.; Goergen, Andrea F.; Skapinsky, Kaley F.; Devlin, Hillary C.; Koehly, Laura M.

2011-01-01

Purpose: This study evaluates the role of older family members as providers of social resources within familial network systems affected by an inherited cancer susceptibility syndrome. Design and Methods: Respondents who previously participated in a study that involved genetic counseling and testing for Lynch syndrome and their family network…

Marriage and family therapy faculty members' balance of work and personal life.

Science.gov (United States)

Matheson, Jennifer L; Rosen, Karen H

2012-04-01

A sense of imbalance is common among both professors and therapists, though few studies have been published examining the work and personal life balance of those who work in both professions simultaneously. Using in-depth telephone interviews, this study examined the work and personal life balance of 16 marriage and family therapy (MFT) faculty members. Results showed that six were satisfied with their balance, six were dissatisfied, and four were "middle of the road." Men, older participants, and those who were in their career longer were more likely to report feeling satisfied with their balance. Internal indicators of their balance included family and workplace messages, health indicators, feelings of contentment, and congruence with personal values. Child and relationship status, tenure status, and gender issues also impacted their sense of balance. Specific balance enhancers and reducers were highlighted, and participants discussed coping strategies and recommendations for other MFT faculty members. Clinical, training, and career implications are discussed. © 2010 American Association for Marriage and Family Therapy.

Most important needs of family members of critical patients in light of the critical care family needs inventory.

Science.gov (United States)

Padilla Fortunatti, Cristóbal Felipe

2014-01-01

This work sought to identify the most important needs for family members of adult critical patients as described in the literature pursuant to the dimensions established in the "Critical Care Family Needs Inventory" (CCFNI) by Molter and Leske. A literature review was carried out by using the CCFNI instrument. The databases used were: Pubmed, CINAHL, Proquest Nursing & Allied Health Source, Proquest Psychology Journals, LILACS, Science Direct, Ovid SP, PsyicINFO, and SciELO. The following limitations for the search were identified: adult patients, articles in English and Spanish, with abstract and complete text available and which had been published from 2003 to June 2013; 15 articles were included. The family's hope on desired results and sincere communication with the healthcare staff turned out to be the most relevant needs, while the least important were related to comfort and having support structures or systems. Most of the studies were conducted in Asia and North America revealing differences in the order of importance assigned to each necessity. Certain sociodemographic and cultural characteristics impact upon how family members rank their needs; this also occurs with the nature of the most important needs for the family and the factors determining their prioritization. The articles included in this review mention the frequent interaction with the family and their holistic view of the person beyond the illness, determine that nurses are the most appropriate professionals to know and satisfy the family needs of critical patients.

Most Important Needs of Family Members of Critical Patients in Light of the Critical Care Family Needs Inventory

Directory of Open Access Journals (Sweden)

Cristóbal Felipe Padilla Fortunatti

2014-07-01

Full Text Available Objective. This work sought to identify the most important needs for family members of adult critical patients as described in the literature pursuant to the dimensions established in the "Critical Care Family Needs Inventory" (CCFNI by Molter and Leske. Methodology. A literature review was carried out by using the CCFNI instrument. The databases used were: Pubmed, CINAHL, Proquest Nursing & Allied Health Source, Proquest Psychology Journals, LILACS, Science Direct, Ovid SP, PsyicINFO, and SciELO. The following limitations for the search were identified: adult patients, articles in English and Spanish, with abstract and complete text available and which had been published from 2003 to June 2013; 15 articles were included. Results. The family's hope on desired results and sincere communication with the healthcare staff turned out to be the most relevant needs, while the least important were related to comfort and having support structures or systems. Most of the studies were conducted in Asia and North America revealing differences in the order of importance assigned to each necessity. Certain sociodemographic and cultural characteristics impact upon how family members rank their needs; this also occurs with the nature of the most important needs for the family and the factors determining their prioritization. Conclusion. The articles included in this review mention the frequent interaction with the family and their holistic view of the person beyond the illness, determine that nurses are the most appropriate professionals to know and satisfy the family needs of critical patients.

Using a genetic test result in the care of family members: how does the duty of confidentiality apply?

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Parker, Michael; Lucassen, Anneke

2018-04-27

The use of genetic and genomic testing is becoming more widespread in healthcare and more inherited explanations for family history of diseases or conditions are being uncovered. Currently, relevant genetic information is not always used in the care of family members who might benefit from it, because of health professionals' fears of inappropriately breaching another family member's confidence. Such examples are likely to increase as testing possibilities expand. Here we present the case for use of familial information in the care and treatment of family members. We argue that whilst a clinical diagnosis in person A is confidential, the discovery of a familial factor that led to this diagnosis should be available for use in depersonalised form by health professionals to inform the testing and clinical care of other family members. The possibility of such use should be made clear in clinical practice at the time of initial testing, but should not require consent from the person in whom the familial factor was first identified. We call for further debate on these questions in the wake of high profile non-disclosure of genetic information cases, and forthcoming Data Protection legislation changes.

A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members.

Science.gov (United States)

Bosma, A R; Rigter, T; Weinreich, S S; Cornel, M C; Henneman, L

2015-10-01

Genetic testing for maturity-onset diabetes of the young (MODY) facilitates a correct diagnosis, enabling treatment optimization and allowing monitoring of asymptomatic family members. To date, the majority of people with MODY remain undiagnosed. To identify patients' needs and areas for improving care, this study explores the experiences of patients and family members who have been genetically tested for MODY. Fourteen semi-structured interviews with patients and the parents of patients, and symptomatic and asymptomatic family members were conducted. Atlas.ti was used for thematic analysis. Most people with MODY were initially misdiagnosed with Type 1 or Type 2 diabetes; they had been seeking for the correct diagnosis for a long time. Reasons for having a genetic test included reassurance, removing the uncertainty of developing diabetes (in asymptomatic family members) and informing relatives. Reasons against testing were the fear of genetic discrimination and not having symptoms. Often a positive genetic test result did not come as a surprise. Both patients and family members were satisfied with the decision to get tested because it enabled them to adjust their lifestyle and treatment accordingly. All participants experienced a lack of knowledge of MODY among healthcare professionals, in their social environment and in patient organizations. Additionally, problems with the reimbursement of medical expenses were reported. Patients and family members are generally positive about genetic testing for MODY. More education of healthcare professionals and attention on the part of diabetes organizations is needed to increase awareness and optimize care and support for people with MODY. © 2015 The Authors. Diabetic Medicine © 2015 Diabetes UK.

Asking the Stakeholders: Perspectives of Individuals With Aphasia, Their Family Members, and Physicians Regarding Communication in Medical Interactions.

Science.gov (United States)

Burns, Michael; Baylor, Carolyn; Dudgeon, Brian J; Starks, Helene; Yorkston, Kathryn

2015-08-01

The purpose of this study was to explore the experiences of patients with aphasia, their family members, and physicians related to communication during medical interactions. Face-to-face, semistructured interviews were conducted with 18 participants—6 patients with aphasia, 6 family members involved in patient care, and 6 practicing physicians. A qualitative description approach was used to collect and summarize narratives from participants' perspectives and experiences. Participants were asked about experiences with communication during medical interactions in which the family member accompanied the patient. Interviews were audio- and/or video-recorded, transcribed, and then coded to identify main themes. Patients and family members generally described their communication experiences as positive, yet all participants discussed challenges and frustrations. Three themes emerged: (a) patients and family members work as a team, (b) patients and family members want physicians to "just try" to communicate with the patient, and (c) physicians want to interact with patients but may not know how. Participants discussed the need for successful accommodation, or changing how one communicates, to help facilitate the patients' increased understanding and ability to express themselves. Over- and underaccommodation with communication were commonly reported as problems. Speech-language pathologists have a role to play in helping to improve communication during medical interactions. Implications for current speech-language pathologist practice and future directions of research are discussed.

Family Members' Views on Seeking Placement in State-Supported Living Centers in Texas

Science.gov (United States)

Colvin, Alex D.; Larke, Patricia J.

2013-01-01

This study investigated the factors that influence family members' decisions to seek placement for relatives with intellectual and/or developmental disabilities (ID/DD) into state-supported living centers in Texas. The sample included 51 family caregivers between the ages of 26 and 95. Using descriptive statistics, correlation, and inferential…

Factor IX gene haplotypes in Amerindians.

Science.gov (United States)

Franco, R F; Araújo, A G; Zago, M A; Guerreiro, J F; Figueiredo, M S

1997-02-01

We have determined the haplotypes of the factor IX gene for 95 Indians from 5 Brazilian Amazon tribes: Wayampí, Wayana-Apalaí, Kayapó, Arára, and Yanomámi. Eight polymorphisms linked to the factor IX gene were investigated: MseI (at 5', nt -698), BamHI (at 5', nt -561), DdeI (intron 1), BamHI (intron 2), XmnI (intron 3), TaqI (intron 4), MspI (intron 4), and HhaI (at 3', approximately 8 kb). The results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. Only five haplotypes were identified within the entire Amerindian study population, and the haplotype distribution was significantly different among the five tribes, with one (Arára) to four (Wayampí) haplotypes being found per tribe. These findings indicate a significant heterogeneity among the Indian tribes and contrast with the homogeneous distribution of the beta-globin gene cluster haplotypes but agree with our recent findings on the distribution of alpha-globin gene cluster haplotypes and the allele frequencies for six VNTRs in the same Amerindian tribes. Our data represent the first study of factor IX-associated polymorphisms in Amerindian populations and emphasizes the applicability of these genetic markers for population and human evolution studies.

Interprofessional collaboration and family member involvement in intensive care units: emerging themes from a multi-sited ethnography.

Science.gov (United States)

Reeves, Scott; McMillan, Sarah E; Kachan, Natasha; Paradis, Elise; Leslie, Myles; Kitto, Simon

2015-05-01

This article presents emerging findings from the first year of a two-year study, which employed ethnographic methods to explore the culture of interprofessional collaboration (IPC) and family member involvement in eight North American intensive care units (ICUs). The study utilized a comparative ethnographic approach - gathering observation, interview and documentary data relating to the behaviors and attitudes of healthcare providers and family members across several sites. In total, 504 hours of ICU-based observational data were gathered over a 12-month period in four ICUs based in two US cities. In addition, 56 semi-structured interviews were undertaken with a range of ICU staff (e.g. nurses, doctors and pharmacists) and family members. Documentary data (e.g. clinical guidelines and unit policies) were also collected to help develop an insight into how the different sites engaged organizationally with IPC and family member involvement. Directed content analysis enabled the identification and categorization of major themes within the data. An interprofessional conceptual framework was utilized to help frame the coding for the analysis. The preliminary findings presented in this paper illuminate a number of issues related to the nature of IPC and family member involvement within an ICU context. These findings are discussed in relation to the wider interprofessional and health services literature.

Payment or reimbursement for certain medical expenses for Camp Lejeune family members. Interim final rule.

Science.gov (United States)

2014-09-24

The Department of Veterans Affairs (VA) is promulgating regulations to implement statutory authority to provide payment or reimbursement for hospital care and medical services provided to certain veterans' family members who resided at Camp Lejeune, North Carolina, for at least 30 days during the period beginning on January 1, 1957, and ending on December 31, 1987. Under this rule, VA will reimburse family members, or pay providers, for medical expenses incurred as a result of certain illnesses and conditions that may be attributed to exposure to contaminated drinking water at Camp Lejeune during this time period. Payment or reimbursement will be made within the limitations set forth in statute and Camp Lejeune family members will receive hospital care and medical services that are consistent with the manner in which we provide hospital care and medical services to Camp Lejeune veterans.

Care and caring in the intensive care unit: Family members' distress and perceptions about staff skills, communication, and emotional support.

Science.gov (United States)

Carlson, Eve B; Spain, David A; Muhtadie, Luma; McDade-Montez, Liz; Macia, Kathryn S

2015-06-01

Family members of intensive care unit (ICU) patients are sometimes highly distressed and report lower satisfaction with communication and emotional support from staff. Within a study of emotional responses to traumatic stress, associations between family distress and satisfaction with aspects of ICU care were investigated. In 29 family members of trauma patients who stayed in an ICU, we assessed symptoms of depression and posttraumatic stress disorder (PTSD) during ICU care. Later, family members rated staff communication, support, and skills and their overall satisfaction with ICU care. Ratings of staff competence and skills were significantly higher than ratings of frequency of communication, information needs being met, and support. Frequency of communication and information needs being met were strongly related to ratings of support (rs = .75-.77) and staff skills (rs = .77-.85), and aspects of satisfaction and communication showed negative relationships with symptoms of depression (rs = -.31 to -.55) and PTSD (rs = -.17 to -.43). Although satisfaction was fairly high, family member distress was negatively associated with several satisfaction variables. Increased understanding of the effects of traumatic stress on family members may help staff improve communication and increase satisfaction of highly distressed family members. Published by Elsevier Inc.

Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer

International Nuclear Information System (INIS)

Cox, David G; Kraft, Peter; Hankinson, Susan E; Hunter, David J

2005-01-01

Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women. We have described a haplotype in the BRCA1 gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear

The process of death imminence awareness by family members of patients in adult critical care.

Science.gov (United States)

Baumhover, Nancy C

2015-01-01

A focus on cost-effective quality end-of-life care remains a high priority in adult critical care given an aging population, high prevalence of death, and aggressive technologies used to extend or sustain life in this setting. A Glaserian grounded theory design was used to conduct this retrospective study to yield a substantive middle-range theory. The data source was semistructured interviews with 14 family members of decedents who died 6 to 60 months prior to the study. The purpose of this study was to generate a theory on how family members of patients in adult critical care come to realize that their loved one is dying. The Process of Death Imminence Awareness by Family Members of Patients in Adult Critical Care middle-range theory contained 6 phases: (1) patient's near-death awareness, (2) dying right in front of me, (3) turning points in the patient's condition, (4) no longer the person I once knew, (5) doing right by them, and (6) time to let go. Patient's near-death awareness preceded all other phases, if communicated by the decedent with their family. Then, family members iteratively moved through all the other key phases in the process until a time to let go became evident. This substantive middle-range theory will guide nursing education, practice, and research aimed at providing quality and cost-effective end-of-life care in adult critical care.

Defining the Medical Intensive Care Unit in the Words of Patients and Their Family Members: A Freelisting Analysis.

Science.gov (United States)

Auriemma, Catherine L; Lyon, Sarah M; Strelec, Lauren E; Kent, Saida; Barg, Frances K; Halpern, Scott D

2015-07-01

No validated conceptual framework exists for understanding the outcomes of patient- and family-centered care in critical care. To explore the meaning of intensive care unit among patients and their families by using freelisting. The phrase intensive care unit was used to prompt freelisting among intensive care unit patients and patients' family members. Freelisting is an anthropological technique in which individuals define a domain by listing all words that come to mind in response to a topic. Salience scores, derived from the frequency with which a word was mentioned, the order in which it was mentioned, and the length of each list, were calculated and analyzed. Among the 45 participants, many words were salient to both patients and patients' family members. Words salient solely for patients included consciousness, getting better, noisy, and personal care. Words salient solely for family members included sadness, busy, professional, and hope. The words suffering, busy, and team were salient solely for family members of patients who lived, whereas sadness, professionals, and hope were salient solely for family members of patients who died. The words caring and death were salient for both groups. Intensive care unit patients and their families define intensive care unit by using words to describe sickness, caring, medical staff, emotional states, and physical qualities of the unit. The results validate the importance of these topics among patients and their families in the intensive care unit and illustrate the usefulness of freelisting in critical care research. ©2015 American Association of Critical-Care Nurses.

Family members' caregiving situations in palliative home care when sitting service is received: The understanding of multiple realities.

Science.gov (United States)

Wallerstedt, Birgitta; Andershed, Birgitta; Benzein, Eva

2014-12-01

To deepen the understanding of the variation of complexity in family members' caregiving situations, when the private home is the place for care, dying, and sitting service. Seven relatives to a deceased family member from four different families were interviewed twice. Data were analyzed by direct interpretation and categorical aggregation. Various patterns of becoming a caregiver were showed, but family members' willingness to become family caregivers was strongly related to fulfilling the dying persons' wishes to be cared for in their own homes. Important factors for coping with the caregiving situation were their needs of support, the possibility to prepare for death related to a need of communication and planning, the length and predictability of the illness trajectory, and experiences of losses and grief. Sitting service was experienced as supportive for family caregivers when they had possibility to hand over care responsibilities, but as non-supportive when expected help not was received. Family members' experiences of caregiving and their degree of vulnerability must be different, depending on whether it is a self-selected position or an imposed task. In general, family members in this study were willing to participate in caregiving for end-of life care, but subject to their own conditions. One way to decrease vulnerability is to assess the resources and competence in relation to the responsibility the person is expected to assume. The support and other efforts to help family caregivers must be related to their specific needs and reality, not only to what the care organization can offer as a standard solution.

Qualitative systematic review: the unique experiences of the nurse-family member when a loved one is admitted with a critical illness.

Science.gov (United States)

Giles, Tracey M; Hall, Karen L

2014-07-01

To interpret and synthesize nurse-family member experiences when a critically ill loved one is admitted to hospital. Having a family member hospitalized in a critical condition is an important stressor. When the family member is also a nurse, the provision of care is more complex, yet little research exists on this issue. Systematic review using Thomas and Harden's approach to thematic synthesis of qualitative research. Primary studies were located by searching CINAHL, Proquest, Journals@Ovid, SCOPUS, Cochrane Library and Google Scholar. No date restrictions were applied due to a lack of relevant literature. All studies that met inclusion criteria were retrieved (n = 1717) and seven met the review aim. Following critical appraisal, seven studies from 1999-2011 describing the nurse-family member's experience were reviewed and synthesized. Six characteristics of the nurse-family member experience were identified: specialized knowledge; dual-role conflicts; competing expectations; building relationships; being 'let in'; and healthcare setting. Nurse-family members experience important stressors that can negatively affect their psychological health and experience as a healthcare consumer. Nurse-family members want a different type of care than other healthcare consumers. Acknowledging nurse-family members' specialized knowledge and dual role, keeping them fully informed and allowing them to be with the patient and feel in control can reduce their fear and anxiety. Further research is needed to develop a deeper understanding of the unique experiences, challenges and needs of nurse-family members to provide them with an enhanced level of care. © 2013 John Wiley & Sons Ltd.

Preferences of Current and Potential Patients and Family Members Regarding Implementation of Electronic Communication Portals in Intensive Care Units.

Science.gov (United States)

Brown, Samuel M; Bell, Sigall K; Roche, Stephanie D; Dente, Erica; Mueller, Ariel; Kim, Tae-Eun; O'Reilly, Kristin; Lee, Barbara Sarnoff; Sands, Ken; Talmor, Daniel

2016-03-01

The quality of communication with patients and family members in intensive care units (ICUs) is a focus of current interest for clinical care improvement. Electronic communication portals are commonly used in other healthcare settings to improve communication. We do not know whether patients and family members desire such portals in ICUs, and if so, what functionality they should provide. To define interest in and desired elements of an electronic communication portal among current and potential ICU patients and their family members. We surveyed, via an Internet panel, 1,050 English-speaking adults residing in the United States with a personal or family history of an ICU admission within 10 years (cohort A) and 1,050 individuals without a history of such admission (cohort B). We also administered a survey instrument in person to 105 family members of patients currently admitted to ICUs at an academic medical center in Boston (cohort C). Respondents, especially current ICU family members, supported an electronic communication portal, including access via an electronic tablet. They wanted at least daily updates, one-paragraph summaries of family meetings including a list of key decisions made, and knowledge of the role and experience of treating clinicians. Overall, they preferred detailed rather than "big picture" information. Respondents were generally comfortable sharing information with their family members. Preferences regarding a communication portal varied significantly by age, sex, ethnicity, and prior experience with ICU hospitalization. Electronic communication portals appear welcome in contemporary ICUs. Frequent updates, knowledge about the professional qualifications of clinicians, detailed medical information, and documentation of family meetings are particularly desired.

Insights into HLA-G genetics provided by worldwide haplotype diversity

Directory of Open Access Journals (Sweden)

Erick C Castelli

2014-10-01

Full Text Available Human Leucocyte Antigen G (HLA-G belongs to the family of nonclassical HLA class I genes, located within the major histocompatibility complex (MHC. HLA-G has been the target of most recent research regarding the function of class I nonclassical genes. The main features that distinguish HLA-G from classical class I genes are: a limited protein variability; b alternative splicing generating several membrane bound and soluble isoforms; c short cytoplasmic tail; d modulation of immune response (immune tolerance; e restricted expression to certain tissues. In the present work, we describe the HLA-G gene structure and address the HLA-G variability and haplotype diversity among several populations around the world, considering each of its major segments (promoter, coding and 3’untranslated regions. For this purpose, we developed a pipeline to reevaluate the 1000Genomes data and recover miscalled or missing genotypes and haplotypes. It became clear that the overall structure of the HLA-G molecule has been maintained during the evolutionary process and that most of the variation sites found in the HLA-G coding region are either coding synonymous or intronic mutations. In addition, only a few frequent and divergent extended haplotypes are found when the promoter, coding and 3’ untranslated regions are evaluated together. The divergence is particularly evident for the regulatory regions. The population comparisons confirmed that most of the HLA-G variability has originated before human dispersion from Africa and that the allele and haplotype frequencies have probably been shaped by strong selective pressures.

Chemotherapy treatment decision-making experiences of older adults with cancer, their family members, oncologists and family physicians: a mixed methods study.

Science.gov (United States)

Puts, Martine T E; Sattar, Schroder; McWatters, Kara; Lee, Katherine; Kulik, Michael; MacDonald, Mary-Ellen; Jang, Raymond; Amir, Eitan; Krzyzanowska, Monika K; Leighl, Natasha; Fitch, Margaret; Joshua, Anthony M; Warde, Padraig; Tourangeau, Ann E; Alibhai, Shabbir M H

2017-03-01

Although comorbidities, frailty, and functional impairment are common in older adults (OA) with cancer, little is known about how these factors are considered during the treatment decision-making process by OAs, their families, and health care providers. Our aim was to better understand the treatment decision process from all these perspectives. A mixed methods multi-perspective longitudinal study using semi-structured interviews and surveys with 29 OAs aged ≥70 years with advanced prostate, breast, colorectal, or lung cancer, 24 of their family members,13 oncologists, and 15 family physicians was conducted. The sample was stratified on age (70-79 and 80+). All interviews were analyzed using thematic analysis. There was no difference in the treatment decision-making experience based on age. Most OAs felt that they should have the final say in the treatment decision, but strongly valued their oncologists' opinion. "Trust in my oncologist" and "chemotherapy as the last resort to prolong life" were the most important reasons to accept treatment. Families indicated a need to improve communication between them, the patient and the specialist, particularly around goals of treatment. Comorbidity and potential side-effects did not play a major role in the treatment decision-making for patients, families, or oncologists. Family physicians reported no involvement in decisions but desired to be more involved. This first study using multiple perspectives showed neither frailty nor comorbidity played a role in the treatment decision-making process. Efforts to improve communication were identified as an opportunity that may enhance quality of care. In a mixed methods study multiple perspective study with older adults with cancer, their family members, their oncologist and their family physician we explored the treatment decision making process and found that most older adults were satisfied with their decision. Comorbidity, functional status and frailty did not impact the

Detecting structure of haplotypes and local ancestry

Science.gov (United States)

We present a two-layer hidden Markov model to detect the structure of haplotypes for unrelated individuals. This allows us to model two scales of linkage disequilibrium (one within a group of haplotypes and one between groups), thereby taking advantage of rich haplotype information to infer local an...

Study of American and Chinese family members' evaluations on institutionalized care for their older parents: potential development in the future.

Science.gov (United States)

Li, Yushi; Buechel, Annie

2007-01-01

The evaluations on institutionalized care facilities from family members, after their loved ones moved into such services, are very different from culture to culture, family to family and person to person. According to a recent survey in the United States and China, it is found that different cultures and the different health conditions of the residents strongly influence family member's viewpoints on institutionalized care services. It is also found that the availability of the institutionalized care facilities plays a significant role, which strongly affects family members' evaluations on nursing home services.

76 FR 67363 - Extending Religious and Family Member FICA and FUTA Exceptions to Disregarded Entities

Science.gov (United States)

2011-11-01

... unless the requisite family relationship exists between the employee and each of the partners comprising... the exceptions from employment that apply because of the existence of a family relationship between...(c). The inability of these entities to benefit from the exceptions for family employees and members...

Y-chromosome STR haplotypes in Somalis

DEFF Research Database (Denmark)

Hallenberg, Charlotte; Simonsen, Bo; Sanchez Sanchez, Juan Jose

2005-01-01

A total of 201 males from Somalia were typed for the Y-chromosome STRs DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 with the PowerPlex Y kit (Promega). A total of 96 different haplotypes were observed and the haplotype diversity was 0.9715. The ......A total of 201 males from Somalia were typed for the Y-chromosome STRs DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 with the PowerPlex Y kit (Promega). A total of 96 different haplotypes were observed and the haplotype diversity was 0...

Development and Examination of a Family Triadic Measure to Examine Quality of Life Family Congruence in Nursing Home Residents and Two Family Members.

Science.gov (United States)

Aalgaard Kelly, Gina

2015-01-01

Objective: The overall purpose of this study was to propose and test a conceptual model and apply family analyses methods to understand quality of life family congruence in the nursing home setting. Method: Secondary data for this study were from a larger study, titled Measurement, Indicators and Improvement of the Quality of Life (QOL) in Nursing Homes . Research literature, family systems theory and human ecological assumptions, fostered the conceptual model empirically testing quality of life family congruence. Results: The study results supported a model examining nursing home residents and two family members on quality of life family congruence. Specifically, family intergenerational dynamic factors, resident personal and social-psychological factors, and nursing home family input factors were examined to identify differences in quality of life family congruence among triad families. Discussion: Formal family involvement and resident cognitive functioning were found as the two most influential factors to quality of life family congruence (QOLFC).

The use of DNA markers in the pre-clinical diagnosis of familial ...

African Journals Online (AJOL)

informative or partially informative in all the families studied. Five haplotypes were found to segregate with the disease locus. The predominant association of two of these haplotypes with FAP in the South African families suggests that two mutations may cause the disease in about 70% of families in this population. Meiotic.

Experiences of adults with high-care needs and their family members with housing and support pathways in Australia.

Science.gov (United States)

McIntyre, Deborah; Fleming, Jennifer; Foster, Michele; Tweedy, Sean

2017-09-01

Many adults aged less than 65 years with high-care needs resulting from acquired disabilities are unable to access age-appropriate housing and support, and reside in residential aged care or live with family members who may struggle to navigate the disability support system. This qualitative study aimed to investigate the experiences of adults with high-care needs and their family members regarding pathways related to housing and support. Two in-depth semi-structured interviews were conducted six months apart with 21 people aged 18 to 65 with high-care needs of varying etiology and living in different housing settings. Nineteen family members involved in decision-making about housing and supports were also interviewed. Thematic data analysis yielded five themes: (1) Traveling in different directions; (2) "the fight, the battle and the war"; (3) willing but wanting; (4) uncertainty and vulnerability; and (5) redefining social roles and relationships. Current disability policy is not satisfying the housing and support requirements of adults with high-care needs and their families. The findings provide rigorous, empirical evidence which indicate the urgent need to improve access to affordable, individualized housing and support packages, including financial, practical and informational support for family members involved in caring roles. Implications for Rehabilitation Individual preferences are an important consideration in housing and support arrangements for younger people with high-care needs alongside needs-based solutions. Individualized funding approaches may provide flexibility of care and choice in housing and support for people with disability. Family members willingly provide substantial informal care, support and advocacy for younger people with high needs but perceive their role as a constant "battle". Payment of family members in recognition of caring work was perceived as a solution to relieve family hardship and ensure optimal care.

Perceived timeliness of referral to hospice palliative care among bereaved family members in Korea.

Science.gov (United States)

Jho, Hyun Jung; Chang, Yoon Jung; Song, Hye Young; Choi, Jin Young; Kim, Yeol; Park, Eun Jung; Paek, Soo Jin; Choi, Hee Jae

2015-09-01

We aimed to explore the perceived timeliness of referral to hospice palliative care unit (HPCU) among bereaved family members in Korea and factors associated therewith. Cross-sectional questionnaire survey was performed for bereaved family members of patients who utilized 40 designated HPCUs across Korea. The questionnaire assessed whether admission to the HPCU was "too late" or "appropriate" and the Good Death Inventory (GDI). A total of 383 questionnaires were analyzed. Of participants, 25.8 % replied that admission to HPCU was too late. Patients with hepatobiliary cancer, poor performance status, abnormal consciousness level, and unawareness of terminal status were significantly related with the too late perception. Family members with younger age and being a child of the patient were more frequently noted in the too late group. Ten out of 18 GDI scores were significantly lower in the too late group. Multiple logistic regression analysis revealed patients' unawareness of terminal status, shorter stay in the HPCU, younger age of bereaved family, and lower scores for two GDI items (staying in a favored place, living without concerning death or disease) were significantly associated with the too late group. To promote timely HPCU utilization and better quality of end of life care, patients need to be informed of the terminal status and their preference should be respected.

Haplotyping Problem, A Clustering Approach

International Nuclear Information System (INIS)

Eslahchi, Changiz; Sadeghi, Mehdi; Pezeshk, Hamid; Kargar, Mehdi; Poormohammadi, Hadi

2007-01-01

Construction of two haplotypes from a set of Single Nucleotide Polymorphism (SNP) fragments is called haplotype reconstruction problem. One of the most popular computational model for this problem is Minimum Error Correction (MEC). Since MEC is an NP-hard problem, here we propose a novel heuristic algorithm based on clustering analysis in data mining for haplotype reconstruction problem. Based on hamming distance and similarity between two fragments, our iterative algorithm produces two clusters of fragments; then, in each iteration, the algorithm assigns a fragment to one of the clusters. Our results suggest that the algorithm has less reconstruction error rate in comparison with other algorithms

Efficacy of a multilevel intervention on the mental health of people living with HIV and their family members in rural China.

Science.gov (United States)

Li, Li; Ji, Guoping; Liang, Li-Jung; Lin, Chunqing; Hsieh, Julie; Lan, Chiao-Wen; Xiao, Yongkang

2017-09-01

HIV has a profound impact on infected individuals and their families. This study evaluated the efficacy of an intervention aimed at improving the mental health of people living with HIV (PLH) and their family members. A randomized controlled trial of 475 PLH and 522 family members was conducted in Anhui, China. The intervention comprised activities at individual, family, and community levels. The study outcomes, which included depressive symptoms and coping with illness for the PLH and depressive symptoms and caregiver burden for the family members, were assessed at baseline and at 6-, 12-, 18-, and 24-month follow-up. We used a mixed-effects regression model with village- and participant-level random effects to assess the intervention effect on the improvement of outcome measures. Relative to the control condition, the PLH and family members of the intervention group reported a significant reduction in depressive symptoms. The largest difference in depressive symptoms was observed at 6 months for the PLH and at 12 months for family members. Decreases in perceived caregiver burden over time were observed for family members in both conditions; however, the group difference did not reach statistical significance. Significant intervention effect on the coping with illness was reported by the PLH. The study highlights the importance of empowering families affected by HIV to confront the challenges together rather than individually. It may be optimal for future programs to include both PLH and their family members to maximize intervention effects through strengthening interactions and support within a family. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Turnover of amyloid precursor protein family members determines their nuclear signaling capability.

Science.gov (United States)

Gersbacher, Manuel T; Goodger, Zoë V; Trutzel, Annette; Bundschuh, Diana; Nitsch, Roger M; Konietzko, Uwe

2013-01-01

The amyloid precursor protein (APP) as well as its homologues, APP-like protein 1 and 2 (APLP1 and APLP2), are cleaved by α-, β-, and γ-secretases, resulting in the release of their intracellular domains (ICDs). We have shown that the APP intracellular domain (AICD) is transported to the nucleus by Fe65 where they jointly bind the histone acetyltransferase Tip60 and localize to spherical nuclear complexes (AFT complexes), which are thought to be sites of transcription. We have now analyzed the subcellular localization and turnover of the APP family members. Similarly to AICD, the ICD of APLP2 localizes to spherical nuclear complexes together with Fe65 and Tip60. In contrast, the ICD of APLP1, despite binding to Fe65, does not translocate to the nucleus. In addition, APLP1 predominantly localizes to the plasma membrane, whereas APP and APLP2 are detected in vesicular structures. APLP1 also demonstrates a much slower turnover of the full-length protein compared to APP and APLP2. We further show that the ICDs of all APP family members are degraded by the proteasome and that the N-terminal amino acids of ICDs determine ICD degradation rate. Together, our results suggest that different nuclear signaling capabilities of APP family members are due to different rates of full-length protein processing and ICD proteasomal degradation. Our results provide evidence in support of a common nuclear signaling function for APP and APLP2 that is absent in APLP1, but suggest that APLP1 has a regulatory role in the nuclear translocation of APP family ICDs due to the sequestration of Fe65.

Estimating haplotype effects for survival data.

Science.gov (United States)

Scheike, Thomas H; Martinussen, Torben; Silver, Jeremy D

2010-09-01

Genetic association studies often investigate the effect of haplotypes on an outcome of interest. Haplotypes are not observed directly, and this complicates the inclusion of such effects in survival models. We describe a new estimating equations approach for Cox's regression model to assess haplotype effects for survival data. These estimating equations are simple to implement and avoid the use of the EM algorithm, which may be slow in the context of the semiparametric Cox model with incomplete covariate information. These estimating equations also lead to easily computable, direct estimators of standard errors, and thus overcome some of the difficulty in obtaining variance estimators based on the EM algorithm in this setting. We also develop an easily implemented goodness-of-fit procedure for Cox's regression model including haplotype effects. Finally, we apply the procedures presented in this article to investigate possible haplotype effects of the PAF-receptor on cardiovascular events in patients with coronary artery disease, and compare our results to those based on the EM algorithm. © 2009, The International Biometric Society.

The effect of genealogy-based haplotypes on genomic prediction

DEFF Research Database (Denmark)

Edriss, Vahid; Fernando, Rohan L.; Su, Guosheng

2013-01-01

on haplotypes instead of regression on individual markers. The aim of this study was to investigate the accuracy of genomic prediction using haplotypes based on local genealogy information. Methods A total of 4429 Danish Holstein bulls were genotyped with the 50K SNP chip. Haplotypes were constructed using...... local genealogical trees. Effects of haplotype covariates were estimated with two types of prediction models: (1) assuming that effects had the same distribution for all haplotype covariates, i.e. the GBLUP method and (2) assuming that a large proportion (pi) of the haplotype covariates had zero effect......, i.e. a Bayesian mixture method. Results About 7.5 times more covariate effects were estimated when fitting haplotypes based on local genealogical trees compared to fitting individuals markers. Genealogy-based haplotype clustering slightly increased the accuracy of genomic prediction and, in some...

"The stress will kill you": prisoner reentry as experienced by family members and the urgent need for support services.

Science.gov (United States)

Grieb, Suzanne M; Crawford, Amelia; Fields, Julie; Smith, Horace; Harris, Richard; Matson, Pamela

2014-08-01

The role of incarceration and community reentry after incarceration has been studied extensively for individual and community health; however, little attention has been given to the experiences of individuals who provide support to those in reentry. Through a community-academic partnership, seven focus groups were conducted with 39 individuals supporting a family member in reentry in the summer of 2012. The primary objectives of the focus groups were to explore community experiences and perspectives regarding providing support during a family member's reentry from a period of incarceration and any desired support for themselves during this time. Five themes emerged under a metatheme of stress, indicating that family members experience acute stress as a result of family reentry that adds to the chronic stress they already endure. Programs that acknowledge the difficult role of family members as supporters during an individual's reentry and provide support to them are desperately needed.

5 CFR 3201.106 - Employment of family members outside the Corporation.

Science.gov (United States)

2010-01-01

... Employment of family members outside the Corporation. (a) Disqualification of employees. An employee shall... relationships. A covered employee shall make a written report to an agency designee within 30 days of the... relationship; or (3) A firm or business which, to the employee's knowledge, is seeking a business or...

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

Science.gov (United States)

von Salomé, Jenny; Liu, Tao; Keihäs, Markku; Morak, Moni; Holinski-Feder, Elke; Berry, Ian R; Moilanen, Jukka S; Baert-Desurmont, Stéphanie; Lindblom, Annika; Lagerstedt-Robinson, Kristina

2017-12-29

Lynch syndrome (LS) predisposes to a spectrum of cancers and increases the lifetime risk of developing colorectal- or endometrial cancer to over 50%. Lynch syndrome is dominantly inherited and is caused by defects in DNA mismatch-repair genes MLH1, MSH2, MSH6 or PMS2, with the vast majority detected in MLH1 and MSH2. Recurrent LS-associated variants observed in apparently unrelated individuals, have either arisen de novo in different families due to mutation hotspots, or are inherited from a founder (a common ancestor) that lived several generations back. There are variants that recur in some populations while also acting as founders in other ethnic groups. Testing for founder mutations can facilitate molecular diagnosis of Lynch Syndrome more efficiently and more cost effective than screening for all possible mutations. Here we report a study of the missense mutation MLH1 c.2059C > T (p.Arg687Trp), a potential founder mutation identified in eight Swedish families and one Finnish family with Swedish ancestors. Haplotype analysis confirmed that the Finnish and Swedish families shared a haplotype of between 0.9 and 2.8 Mb. While MLH1 c.2059C > T exists worldwide, the Swedish haplotype was not found among mutation carriers from Germany or France, which indicates a common founder in the Swedish population. The geographic distribution of MLH1 c.2059C > T in Sweden suggests a single, ancient mutational event in the northern part of Sweden.

A randomized clinical trial of a postdeployment parenting intervention for service members and their families with very young children.

Science.gov (United States)

DeVoe, Ellen R; Paris, Ruth; Emmert-Aronson, Ben; Ross, Abigail; Acker, Michelle

2017-08-01

Parenting through the deployment cycle presents unique stressors for military families. To date, few evidence-based and military-specific parenting programs are available to support parenting through cycles of deployment separation and reintegration, especially for National Guard/Reserve members. The purpose of this research was to test the efficacy of a parenting program developed specifically to support military families during reintegration. Within 1 year of returning from deployment to Afghanistan or Iraq, 115 service members with very young children were randomly assigned to receive either the Strong Families Strong Forces Parenting Program at baseline or after a 12-week waiting period. Using a home-based modality, service members, at-home parents, and their young child were assessed at baseline, 3 months posttreatment/wait period, and 6 months from baseline. Service member parents in Strong Families evidenced greater reductions in parenting stress and mental health distress relative to those in the waitlist comparison group. Service members with more posttraumatic stress symptoms reported higher levels of perceived parental efficacy in the intervention group than service members in the comparison group. Intervention also resulted in enhanced parental reflective capacity, including increased curiosity and interest in the young child among those in the intervention group relative to comparison. Service member parents and their spouses demonstrated high interest in participating in a postdeployment parenting program targeting families with very young children. Findings point to the feasibility, appeal, and efficacy of Strong Families in this initial trial and suggest promise for implementation in broader military and community service systems. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Impact of a visual aid on discordance between physicians and family members about prognosis of critically ill patients.

Science.gov (United States)

Burelli, Gabrielle; Berthelier, Chloé; Vanacker, Hélène; Descaillot, Léonard; Philippon-Jouve, Bénédicte; Fabre, Xavier; Kaaki, Mahmoud; Chakarian, Jean-Charles; Domine, Alexandre; Beuret, Pascal

2018-06-01

This study aimed to evaluate the impact of a visual aid on the discordance about prognosis between physicians and family members. The study was performed in a general intensive care department with two 6-bed units. In the unit A, family members could consult a visual aid depicting day by day the evolution of global, hemodynamic, respiratory, renal and neurological conditions of the patient on a 10-point scale. In the unit B, they only received oral medical information. On day 7 of the ICU stay, the physician and family members estimated the prognosis of the patient among four proposals (life threatened; steady state but may worsen; steady state, should heal; will heal). Then we compared the rate of discordance about prognosis between physicians and family members in the two units. Seventy-nine consecutive patients admitted in the intensive care department and still present at day 7, their family members and physicians, were enrolled. Patients in the two units were comparable in age, sex ratio, reason for admission, SAPS II at admission and SOFA score at day 7. In the unit A, physician-family members discordance about prognosis occurred for 12 out of 39 patients (31%) vs. 22 out of 40 patients (55%) in the unit B (P=0.04). In our study, adding a visual aid depicting the evolution of the condition of critically ill patients day by day to classic oral information allowed the family to have an estimate of the prognosis less discordant with the estimate of the physician. Copyright © 2018 Société française d'anesthésie et de réanimation (Sfar). Published by Elsevier Masson SAS. All rights reserved.

Al-Anon family groups' newcomers and members: Concerns about the drinkers in their lives.

Science.gov (United States)

Timko, Christine; Cronkite, Ruth; Laudet, Alexandre; Kaskutas, Lee Ann; Roth, Jeffrey; Moos, Rudolf H

2014-01-01

Despite Al-Anon's widespread availability and use, knowledge is lacking about the drinkers in attendees' lives. We filled this gap by describing and comparing Al-Anon newcomers' and members' reports about their "main drinker" (main person prompting initial attendance). Al-Anon's World Service Office mailed a random sample of groups, yielding completed surveys from newcomers (N = 362) and stable members (N = 265). Newcomers' and members' drinkers generally were comparable. They had known their drinker for an average of 22 years and been concerned about his or her's drinking for 9 years; about 50% had daily contact with the drinker. Most reported negative relationship aspects (drinker gets on your nerves; you disagree about important things). Newcomers had more concern about the drinker's alcohol use than members did, and were more likely to report their drinkers' driving under the influence. Drinkers' most frequent problem due to drinking was family arguments, and most common source of help was 12-step groups, with lower rates among drinkers of newcomers. Concerns spurring initial Al-Anon attendance were the drinker's poor quality of life, relationships, and psychological status; goals for initial attendance reflected these concerns. The drinker's alcohol use was of less concern in prompting initial Al-Anon attendance, and, accordingly, the drinker's reduced drinking was a less frequently endorsed goal of attendance. Family treatments for substance use problems might expand interventions and outcome domains beyond abstinence and relationship satisfaction to include the drinker's quality of life and psychological symptoms and in turn relieve concerns of family members. © American Academy of Addiction Psychiatry.

Chipmunk parvovirus is distinct from members in the genus Erythrovirus of the family Parvoviridae.

Directory of Open Access Journals (Sweden)

Zhaojun Chen

2010-12-01

Full Text Available The transcription profile of chipmunk parvovirus (ChpPV, a tentative member of the genus Erythrovirus in the subfamily Parvovirinae of the family Parvoviridae, was characterized by transfecting a nearly full-length genome. We found that it is unique from the profiles of human parvovirus B19 and simian parvovirus, the members in the genus Erythrovirus so far characterized, in that the small RNA transcripts were not processed for encoding small non-structural proteins. However, like the large non-structural protein NS1 of the human parvovirus B19, the ChpPV NS1 is a potent inducer of apoptosis. Further phylogenetic analysis of ChpPV with other parvoviruses in the subfamily Parvovirinae indicates that ChpPV is distinct from the members in genus Erythrovirus. Thus, we conclude that ChpPV may represent a new genus in the family Parvoviridae.

Sleep, anxiety and fatigue in family members of patients admitted to the intensive care unit: a questionnaire study.

Science.gov (United States)

Day, Alex; Haj-Bakri, Samer; Lubchansky, Stephanie; Mehta, Sangeeta

2013-05-24

Family members of critically ill patients often experience increased incidence of physical and mental health issues. One of the first ways family members suffer is by losing sleep. The purpose of this study is to understand sleep quality, levels of fatigue and anxiety, and factors contributing to poor sleep in adult family members of critically ill patients. A questionnaire was designed to evaluate sleep, fatigue and anxiety during the intensive care unit (ICU) admission. We incorporated three validated instruments: General Sleep Disturbance Scale (GSDS), Beck Anxiety Index (BAI) and Lee Fatigue Scale (NRS-F). Adult family members of patients in ICU for more than 24 hours were approached for questionnaire completion. Patient demographics were recorded. The study population consisted of 94 respondents, (49.1 ± 12.9 years, 52.7% male); 43.6% were children and 21.3% were spouses of ICU patients. Sleep quality was rated as poor/very poor by 43.5% of respondents, and good/very good by 15.2%. The most common factors contributing to poor sleep were anxiety (43.6%), tension (28.7%) and fear (24.5%). Respondents' most common suggestions to improve sleep were more information regarding the patient's health (24.5%) and relaxation techniques (21.3%). Mean GSDS score was 38.2 ± 19.3, with 58.1% of respondents experiencing moderate to severe sleep disturbance. Mean BAI was 12.3 ± 10.2, with 20.7% of respondents experiencing moderate to severe anxiety. Mean NRS-F was 3.8 ± 2.5, with 57.6% of respondents experiencing moderate to high fatigue. Family members who spent one or more nights in the hospital had significantly higher GSDS, BAI and NRS-F scores. The patient's Acute Physiology and Chronic Health Evaluation (APACHE) II score at survey completion correlated significantly with family members' GSDS, BAI and NRS-F. The majority of family members of ICU patients experience moderate to severe sleep disturbance and fatigue, and mild anxiety.

The Family in the treatment of their members with depth- blind disability in Holguín

Directory of Open Access Journals (Sweden)

Iliana Pupo-Herrera

2016-12-01

Full Text Available The depth- blind. disabilities persons  are considered as a particular kind of family. In this study its valorated the treatment of the family to the members that present this disability in Holguin. It refers to the familiar group as a sociality context of personal superation, taken in count the educational rol and the influences of that, in negative or positives results   in their members behaviour in society.

Clinical procedure for colon carcinoma tissue sampling directly affects the cancer marker-capacity of VEGF family members

International Nuclear Information System (INIS)

Pringels, Sarah; Van Damme, Nancy; De Craene, Bram; Pattyn, Piet; Ceelen, Wim; Peeters, Marc; Grooten, Johan

2012-01-01

mRNA levels of members of the Vascular Endothelial Growth Factor family (VEGF-A, -B, -C, -D, Placental Growth Factor/PlGF) have been investigated as tissue-based markers of colon cancer. These studies, which used specimens obtained by surgical resection or colonoscopic biopsy, yielded contradictory results. We studied the effect of the sampling method on the marker accuracy of VEGF family members. Comparative RT-qPCR analysis was performed on healthy colon and colon carcinoma samples obtained by biopsy (n = 38) or resection (n = 39) to measure mRNA expression levels of individual VEGF family members. mRNA levels of genes encoding the eicosanoid enzymes cyclooxygenase 2 (COX2) and 5-lipoxygenase (5-LOX) and of genes encoding the hypoxia markers glucose transporter 1 (GLUT-1) and carbonic anhydrase IX (CAIX) were included as markers for cellular stress and hypoxia. Expression levels of COX2, 5-LOX, GLUT-1 and CAIX revealed the occurrence in healthy colon resection samples of hypoxic cellular stress and a concurrent increment of basal expression levels of VEGF family members. This increment abolished differential expression of VEGF-B and VEGF-C in matched carcinoma resection samples and created a surgery-induced underexpression of VEGF-D. VEGF-A and PlGF showed strong overexpression in carcinoma samples regardless of the sampling method. Sampling-induced hypoxia in resection samples but not in biopsy samples affects the marker-reliability of VEGF family members. Therefore, biopsy samples provide a more accurate report on VEGF family mRNA levels. Furthermore, this limited expression analysis proposes VEGF-A and PlGF as reliable, sampling procedure insensitive mRNA-markers for molecular diagnosis of colon cancer

Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

Science.gov (United States)

Park, Joonhong; Kim, Myungshin; Jang, Woori; Chae, Hyojin; Kim, Yonggoo; Chung, Nack-Gyun; Lee, Jae-Wook; Cho, Bin; Jeong, Dae-Chul; Park, In Yang; Park, Mi Sun

2015-05-01

A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG. Our aim in this study was to investigate the origin of these common mutations of FANCA and FANCG. We genotyped 13 FA patients consisting of five FA-A patients and eight FA-G patients from the Korean FA population. Microsatellite markers used for haplotype analysis included four CA repeat markers which are closely linked with FANCA and eight CA repeat markers which are contiguous with FANCG. As a result, Korean FA-A patients carrying c.2546delC or c.3720_3724delAAACA did not share the same haplotypes. However, three unique haplotypes carrying c.307+1G>C, c.1066C > T, or c.1589_1591delATA, that consisted of eight polymorphic loci covering a flanking region were strongly associated with Korean FA-G, consistent with founder haplotypes reported previously in the Japanese FA-G population. Our finding confirmed the common ancestral haplotypes on the origins of the East Asian FA-G patients, which will improve our understanding of the molecular population genetics of FA-G. To the best of our knowledge, this is the first report on the association between disease-linked mutations and common ancestral haplotypes in the Korean FA population. © 2015 John Wiley & Sons Ltd/University College London.

Global spread and genetic variants of the two CYP9M10 haplotype forms associated with insecticide resistance in Culex quinquefasciatus Say.

Science.gov (United States)

Itokawa, K; Komagata, O; Kasai, S; Kawada, H; Mwatele, C; Dida, G O; Njenga, S M; Mwandawiro, C; Tomita, T

2013-09-01

Insecticide resistance develops as a genetic factor (allele) conferring lower susceptibility to insecticides proliferates within a target insect population under strong positive selection. Intriguingly, a resistance allele pre-existing in a population often bears a series of further adaptive allelic variants through new mutations. This phenomenon occasionally results in replacement of the predominating resistance allele by fitter new derivatives, and consequently, development of greater resistance at the population level. The overexpression of the cytochrome P450 gene CYP9M10 is associated with pyrethroid resistance in the southern house mosquito Culex quinquefasciatus. Previously, we have found two genealogically related overexpressing CYP9M10 haplotypes, which differ in gene copy number (duplicated and non-duplicated). The duplicated haplotype was derived from the non-duplicated overproducer probably recently. In the present study, we investigated allelic series of CYP9M10 involved in three C. quinquefasciatus laboratory colonies recently collected from three different localities. Duplicated and non-duplicated overproducing haplotypes coexisted in African and Asian colonies indicating a global distribution of both haplotype lineages. The duplicated haplotypes both in the Asian and African colonies were associated with higher expression levels and stronger resistance than non-duplicated overproducing haplotypes. There were slight variation in expression level among the non-duplicated overproducing haplotypes. The nucleotide sequences in coding and upstream regions among members of this group also showed a little diversity. Non-duplicated overproducing haplotypes with relatively higher expression were genealogically closer to the duplicated haplotypes than the other non-duplicated overproducing haplotypes, suggesting multiple cis-acting mutations before duplication.

Few opportunities to influence decisions regarding the care and treatment of an older hospitalized family member: a qualitative study among family members.

Science.gov (United States)

Nyborg, Ingrid; Danbolt, Lars Johan; Kirkevold, Marit

2017-08-31

The drive towards patient involvement in health services has been increasingly promoted. The World Health Organisation emphasizes the family's perspective in comprehensive care. Internationally there is an increased emphasis on what patients and their family tell about the hospital experiences. However, current literature does not adequately address the question of participation experiences among relatives of older hospitalized family members. There is a paucity of research with a generational perspective on relatives' opportunities to exert influence. The aim of the study was to explore relatives' experiences of opportunities to participate in decisions about the care and treatment of older hospitalized family members and whether there are different experiences of influence to the relatives' age. This was an explorative study applying individual qualitative interviews. The interviews were analysed following hermeneutic methodological principles. Two Norwegian geriatric wards participated: one at a university hospital and one at a local hospital. Twelve participants, six women and six men, were purposively selected. The relatives were aged from 36 to 88 (mean age 62) and were spouses, children and/or children-in-law of patients. The relatives' experienced opportunities to exert influence were distributed along a continuum ranging from older relatives being reactive waiting for an initiative from health professionals, to younger adults being proactive securing influence. Older "invisible" carers appeared to go unnoticed by the health professionals, establishing few opportunities to influence decisions. The middle-aged relatives also experienced limited influence, but participated when the hospital needed it. However, limited participation seemed to have less impact on their lives than in the older relatives. Middle-aged relatives and younger adults identified strategies in which visibility was the key to increasing the odds of gaining participation. The exceptional

Shame and guilt/self-blame as predictors of expressed emotion in family members of patients with schizophrenia

Science.gov (United States)

Wasserman, Stephanie; Weisman de Mamani, Amy; Suro, Giulia

2012-01-01

Expressed emotion (EE) is a measure of the family environment reflecting the amount of criticism and emotional over-involvement expressed by a key relative towards a family member with a disorder or impairment. Patients from high EE homes have a poorer illness prognosis than do patients from low EE homes. Despite EE's well-established predictive validity, questions remain regarding why some family members express high levels of EE attitudes while others do not. Based on indirect evidence from previous research, the current study tested whether shame and guilt/self-blame about having a relative with schizophrenia serve as predictors of EE. A sample of 72 family members of patients with schizophrenia completed the Five Minute Speech Sample to measure EE, along with questionnaires assessing self-directed emotions. In line with the hypotheses, higher levels of both shame and guilt/self-blame about having a relative with schizophrenia predicted high EE. Results of the current study elucidate the EE construct and have implications for working with families of patients with schizophrenia. PMID:22357355

Women service members, veterans, and their families: What we know now.

Science.gov (United States)

Mankowski, Mariann; Everett, Joyce E

2016-12-01

The purpose of this paper is to highlight what we know now about female service members, veterans, and their families. The experiences of U.S. female service members and veterans are more complex than previous eras and significant demographic changes have taken place. U.S. female veterans are more likely to be younger, come from ethnic and racial minority groups, have children, and combat exposure. U.S. female service members report high rates of sexual violence and they are more vulnerable to homelessness and unemployment when compared to previous female military cohorts. U.S. female service members and veterans are also at higher risk for significant mental and health issues. Children and adolescents of women service members and veterans may also carry a heavy burden as a result of lengthy deployments. A majority of female service members and veterans will utilize community based healthcare and social services, therefore, it is essential that all healthcare providers understand the unique needs of this cohort of women. Practice implications at the micro, mezzo, and macro levels are discussed. Qualitative and quantitative studies that expand our understanding of women's experience in the military and as veterans are encouraged. Copyright © 2016 Elsevier Ltd. All rights reserved.

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

International Nuclear Information System (INIS)

Soria, L.F.; Ludwig, E.H.; Clarke, H.R.G.; McCarthy, B.J.; Vega, G.L.; Grundy, S.M.

1989-01-01

Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the apoB,E(LDL) receptor. The disorder appears to result from a mutation in the gene for apoB-100. Extensive sequence analysis of the two alleles of one subject heterozygous for the disorder has revealed a previously unreported mutation in the codon for amino acid 3500 that results in the substitution of glutamine for arginine. This same mutant allele occurs in six other, unrelated subjects and in eight affected relatives in two of these families. A partial haplotype of this mutant apoB-100 allele was constructed by sequence analysis and restriction enzyme digestion at positions where variations in the apoB-100 are known to occur. This haplotype is the same in three probands and four affected members of one family and lacks a polymorphic Xba I site whose presence has been correlated with high cholesterol levels. Thus, it appears that the mutation in the codon for amino acid 3500 (CGG → CAG), a CG mutational hot spot, defines a minor apoB-100 allele associated with defective low density lipoproteins and hypercholesterolemia

New chicken Rfp-Y haplotypes on the basis of MHC class II RFLP and MLC analyses

DEFF Research Database (Denmark)

Juul-Madsen, H R; Zoorob, R; Auffray, C

1997-01-01

New chicken Rfp-Y haplotypes were determined by the use of restriction fragment length polymorphism (RFLP) and mixed lymphocyte culture (MLC) in four different chicken haplotypes, B15, B19, B21, B201. The RFLP polymorphism was mapped to the Rfp-Y system by the use of a subclone (18.1) which maps...... near a polymorphic lectin gene located in the Rfp-Y system and DNA from families with known segregation of the implicated RFLP polymorphism. For the first time it is shown that major histocompatibility complex class II genes in the Rfp-Y system have functional implications. Sequence information...

Family matters : The experiences and opinions of family members of persons with (severe) or profound intellectual disabilities

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Luijkx, Jorien

2016-01-01

“I love my sister, but sometimes I don’t”. This is one of the statements made in the study focused on the experiences of family members of people with (profound) intellectual (and multiple) disabilities (both of individuals living in a residential facility as persons living at home). In recent

Karyopherin alpha7 (KPNA7), a divergent member of the importin alpha family of nuclear import receptors.

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Kelley, Joshua B; Talley, Ashley M; Spencer, Adam; Gioeli, Daniel; Paschal, Bryce M

2010-08-11

Classical nuclear localization signal (NLS) dependent nuclear import is carried out by a heterodimer of importin alpha and importin beta. NLS cargo is recognized by importin alpha, which is bound by importin beta. Importin beta mediates translocation of the complex through the central channel of the nuclear pore, and upon reaching the nucleus, RanGTP binding to importin beta triggers disassembly of the complex. To date, six importin alpha family members, encoded by separate genes, have been described in humans. We sequenced and characterized a seventh member of the importin alpha family of transport factors, karyopherin alpha 7 (KPNA7), which is most closely related to KPNA2. The domain of KPNA7 that binds Importin beta (IBB) is divergent, and shows stronger binding to importin beta than the IBB domains from of other importin alpha family members. With regard to NLS recognition, KPNA7 binds to the retinoblastoma (RB) NLS to a similar degree as KPNA2, but it fails to bind the SV40-NLS and the human nucleoplasmin (NPM) NLS. KPNA7 shows a predominantly nuclear distribution under steady state conditions, which contrasts with KPNA2 which is primarily cytoplasmic. KPNA7 is a novel importin alpha family member in humans that belongs to the importin alpha2 subfamily. KPNA7 shows different subcellular localization and NLS binding characteristics compared to other members of the importin alpha family. These properties suggest that KPNA7 could be specialized for interactions with select NLS-containing proteins, potentially impacting developmental regulation.

Family Members of Cancer Patients in Korea Are at an Increased Risk of Medically Diagnosed Depression

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Youngdae Cho

2018-03-01

Full Text Available Objectives Family members are often cancer patients’ primary source of social and emotional support and make a major contribution to how well patients manage their illness. We compared the prevalence of depression in the family members of cancer patients and the general population. Methods This study used the data from the fourth, fifth, and sixth rounds of the Korea National Health and Nutrition Examination Survey. The variable of interest was the presence of a cohabitating cancer patient in the family and the dependent variable was the presence of diagnosed depression. Results The odds of having medically diagnosed depression in those with a cohabitating cancer patient in the family were significantly higher than among those who did not have cancer patients in their families (odds ratio [OR], 1.56; 95% confidence interval [CI], 1.12 to 2.17; p=0.009. The OR for females was 1.59, and this increase was statistically significant (95% CI, 1.09 to 2.31; p=0.02. Conclusions We need to invest more effort into diagnosing and managing depression in the family members of cancer patients. This will have an impact both on their quality of life and on the well-being of patients, as supporters and caregivers play an instrumental role in helping patients manage their illness.

[Deep brain stimulation - expectations and doubts. A nationwide questionnaire study of patients with Parkinson's disease and their family members].

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Südmeyer, M; Volkmann, J; Wojtecki, L; Deuschl, G; Schnitzler, A; Möller, B

2012-04-01

The aim of this questionnaire-based study was to determine the decision-making motives from Parkinson's patients and their family members for deep brain stimulation (DBS), which are crucial for the attitude towards this therapy and which should be considered during the clinical interview. The questionnaire was sent out nationwide to members of the German Parkinson Association. Patient and family specific data as well as information sources, doubts and expectations with respect to DBS were assessed. A total of 582 patients and 476 family members answered the questionnaire, revealing that 96% of the patients and 91% of the family members already possessed information regarding DBS. While a large proportion of interviewees had specific expectations concerning DBS, more than two thirds expressed concerns regarding DBS; the most frequent with respect to intraoperative complications and stimulation-induced worsening of symptoms. The quantity of realistic patients and family expectations significantly correlated with a positive evaluation of DBS and doubts as well as unrealistic expectations of family members correlated with a negative attitude towards the operation. The findings suggest that patients and their relatives organized in support groups indeed possess detailed information regarding DBS. However, for the acceptance of the treatment a timely elucidation about DBS as well as responding to the individual concerns by the consulting physician is essential.

Estimating haplotype effects for survival data

DEFF Research Database (Denmark)

Scheike, Thomas; Martinussen, Torben; Silver, J

2010-01-01

Genetic association studies often investigate the effect of haplotypes on an outcome of interest. Haplotypes are not observed directly, and this complicates the inclusion of such effects in survival models. We describe a new estimating equations approach for Cox's regression model to assess haplo...

Parent Perspectives: Understanding Support Systems for Kindergarteners with Special Needs and Their Family Members

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Okraski, Ronni

2017-01-01

Having a child with special needs can be overwhelming, emotionally draining and extremely stressful for parents and their family members. Research identifies the support systems families need in order to have quality-of-life. The current study uses mixed methods to evaluate the degree to which parents and other primary caregivers in Arizona view…

Main information requests of family members of patients in Intensive Care Units.

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Velasco Bueno, J M; Alonso-Ovies, A; Heras La Calle, G; Zaforteza Lallemand, C

2017-11-03

To compile an inventory of information requests prioritized by the family members, to find out which professionals them consider able to respond these requests, and to explore the differences in perception between family members and professionals. Qualitative analysis of content validation and descriptive cross-sectional study. 41 Spanish ICU. Relatives, physicians and nurses of critical patients. From an initial list of questions extracted from literature review, physicians, nurses, and relatives of critical patients incorporated issues that they considered not included. After analyzing content validity, a new list was obtained, which was again submitted to the participants' assessment to evaluate the level of importance that they assigned to each question and which professional they considered appropriate to answer it. most important questions for the relatives: concern about the clinical situation, measures to be taken, prognosis and information. There was a coincidence between relatives and professionals in the priority issues for families. There were significant differences in the importance given to each question: between doctors and relatives (72/82 questions), and between nurses and relatives (66/82 questions) (P<.05). For the relatives, 63% of the questions could be answered by doctors or nurses, 27% preferably by doctors and 10% by nurses. The most relevant issues for families were prognosis and severity, but also the need for information. Healthcare professionals tend to underestimate the importance of many of the questions that concern families. Relatives feel that most of their concerns can be resolved either by doctors or nurses. Copyright © 2017 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

Still Searching: A Meta-Synthesis of a Good Death from the Bereaved Family Member Perspective

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Kelly E. Tenzek

2017-04-01

Full Text Available The concept of a good death continues to receive attention in end-of-life (EOL scholarship. We sought to continue this line of inquiry related to a good death by conducting a meta-synthesis of published qualitative research studies that examined a good death from the bereaved family member’s perspective. Results of the meta-synthesis included 14 articles with 368 participants. Based on analysis, we present a conceptual model called The Opportunity Model for Presence during the EOL Process. The model is framed in socio-cultural factors, and major themes include EOL process engagement with categories of healthcare participants, communication and practical issues. The second theme, (discontinuity of care, includes categories of place of care, knowledge of family member dying and moment of death. Both of these themes lead to perceptions of either a good or bad death, which influences the bereavement process. We argue the main contribution of the model is the ability to identify moments throughout the interaction where family members can be present to the EOL process. Recommendations for healthcare participants, including patients, family members and clinical care providers are offered to improve the quality of experience throughout the EOL process and limitations of the study are discussed.

[Need for the role of the patient's family members at the intensive care unit].

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Aliberch Raurell, A M; Miquel Aymar, I M

2015-01-01

To know the current status for the role of family members in the intensive care unit and its evolution, analyzing areas for improvement and learning about the nursing role. This work is a literature review. The selected articles included two of the key words in their title. Articles before year 2000 were excluded, except some work of great interest. Family members lose their role and suffer a crisis when one of them is at the intensive care unit. Their normal role into the family changes or disappears. Obtaining a participation role increases satisfaction and decreases anxiety in relatives. Nursing professionals are essential in addressing this need. Solving the need for this role decreases anxiety and stress on relatives and patients. Their implication on the patient process enhances and helps professionals to know the patient's background. Copyright © 2014 Elsevier España, S.L.U. y SEEIUC. All rights reserved.

A New Approach for Assessing the Needs of Service Members and Their Families

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2011-01-01

their families. Nothing that I do as the Secretary of the Army is more important than this [emphasis added] ( Harvey , 2009). According to the Army...to address the physical, material, mental and spiritual needs of each member of the Total Army Family [emphasis added] ( Harvey and Schoomaker, 2006...Laurie Weinstein and Christie C. White, eds., Wives and Warriors: Women and the Military in the United States and Canada, Westport, Conn.: Greenwood

Effect of unaffordable medical need on distress level of family member: analyses of 1997-2013 United States National Health Interview Surveys.

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Chih, Hui Jun; Liang, Wenbin

2017-09-02

Reduced funding to public health care systems during economic downturns is a common phenomenon around the world. The effect of health care cost on family members of the patients has not been established. This paper aims to explore the relationship between affordability of health care and vulnerability of family members to distress levels. Data of a total of 262,843 participants were obtained from 17 waves (1997-2013) of the United States National Health Interview Survey. Multinomial logistic regression was used to investigate psychological distress level as a result of having family members who experienced unmet medical needs due to cost. Among participants without family members who experienced unmet needs for medical care due to cost, risks of having 'moderate' (score of 5-12) or 'serious' (score of 13 or above) level of psychological distress were 1.0% and 11.5%, respectively. Risks of having 'moderate' or 'serious' level of psychological distress were 3.1% and 23.4%, respectively among participants with family members who experienced unmet needs. The adjusted relative risk ratio of 'moderate' and 'serious', as compared to 'normal' level of psychological distress, were 1.58 (95% confidence interval: 1.47-1.69) and 2.09 (95% confidence interval: 1.78-2.45) if one's family members experienced unmet medical needs. Unmet medical needs due to cost increases risk of distress levels experienced by family members. Careful planning and adequate funding to public health care system could be implemented to prevent any unnecessary detrimental effect on mental health among family members of the unwell and any further increment of the prevalence of mental illnesses. This recommendation aligns with the World Health Organization Mental Health Action Plan 2013-2020.

Expression of Hepatoma-derived growth factor family members in the adult central nervous system

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Abouzied Mekky M

2006-01-01

Full Text Available Abstract Background Hepatoma-derived growth factor (HDGF belongs to a polypeptide family containing five additional members called HDGF related proteins 1–4 (HRP-1 to -4 and Lens epithelial derived growth factor. Whereas some family members such as HDGF and HRP-2 are expressed in a wide range of tissues, the expression of others is very restricted. HRP-1 and -4 are only expressed in testis, HRP-3 only in the nervous system. Here we investigated the expression of HDGF, HRP-2 and HRP-3 in the central nervous system of adult mice on the cellular level by immunohistochemistry. In addition we performed Western blot analysis of various brain regions as well as neuronal and glial cell cultures. Results HDGF was rather evenly expressed throughout all brain regions tested with the lowest expression in the substantia nigra. HRP-2 was strongly expressed in the thalamus, prefrontal and parietal cortex, neurohypophysis, and the cerebellum, HRP-3 in the bulbus olfactorius, piriform cortex and amygdala complex. HDGF and HRP-2 were found to be expressed by neurons, astrocytes and oligodendrocytes. In contrast, strong expression of HRP-3 in the adult nervous system is restricted to neurons, except for very weak expression in oligodendrocytes in the brain stem. Although the majority of neurons are HRP-3 positive, some like cerebellar granule cells are negative. Conclusion The coexpression of HDGF and HRP-2 in glia and neurons as well as the coexpression of all three proteins in many neurons suggests different functions of members of the HDGF protein family in cells of the central nervous system that might include proliferation as well as cell survival. In addition the restricted expression of HRP-3 point to a special function of this family member for neuronal cells.

The Unforgettables: a chorus for people with dementia with their family members and friends.

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Mittelman, Mary Sherman; Papayannopoulou, Panayiota Maria

2018-01-29

Summary/Abstract Our experience evaluating a museum program for people with dementia together with their family members demonstrated benefits for all participants. We hypothesized that participation in a chorus would also have positive effects, giving them an opportunity to share a stimulating and social activity that could improve their quality of life. We inaugurated a chorus for people with dementia and their family caregivers in 2011, which rehearses and performs regularly. Each person with dementia must be accompanied by a friend or family member and must commit to attending all rehearsals and the concert that ensues. A pilot study included a structured assessment, take home questionnaires and focus groups. Analyses of pre-post scores were conducted; effect size was quantified using Cohen's d. Results showed that quality of life and communication with the other member of the dyad improved (Effect size: Cohen's d between 0.32 and 0.72) for people with dementia; quality of life, social support, communication and self-esteem improved (d between 0.29 and 0.68) for caregivers. Most participants stated that benefits included belonging to a group, having a normal activity together and learning new skills. Participants attended rehearsals in spite of harsh weather conditions. The chorus has been rehearsing and performing together for more than 6 years and contributing to its costs. Results of this pilot study suggest that people in the early to middle stage of dementia and their family members and friends can enjoy and learn from rehearsing and performing in concerts that also engage the wider community. It is essential to conduct additional larger studies of the benefits of participating in a chorus, which may include improved quality of life and social support for all, and reduced cognitive decline among people with dementia.

Importance of dimer formation of myocardin family members in the regulation of their nuclear export.

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Hayashi, Ken'ichiro; Morita, Tsuyoshi

2013-01-01

Myocardin (Mycd) family members function as a transcriptional cofactor for serum response factor (SRF). Dimer formation is necessary to exhibit their function, and the coiled-coil domain (CC) plays a critical role in their dimerization. We have recently revealed a detailed molecular mechanism for their Crm1 (exportin1)-mediated nuclear export. Here, we found other unique significances of the dimerization of Mycd family members. Introduction of mutations in the CC of myocardin-related transcription factor A (MRTF-A) and truncated Mycd resulted in significant decreases in their cytoplasmic localization and increases in their nuclear localization. In accordance with such subcellular localization changes, their binding to Crm1 were reduced. These results indicate that the dimerization of Mycd family members is necessary for their Crm1-mediated nuclear export. We have recently found that the N-terminal region of Mycd consisting of 128 amino acids (Mycd N128) self-associates to Mycd via the central basic domain (CB), resulting in masking the Crm1-binding site. Such self-association of MRTF-A would be unlikely. In this study, we also revealed that the dimerization of Mycd was also necessary for this self-association. Wild-type Mycd activated SRF-mediated transcription more potently than Mycd lacking the Mycd N128 (Mycd ΔN128) did. These results suggest two possible functions of the Mycd N128: 1) stabilization of Mycd dimer to enhance SRF-mediated transcription and 2) positive regulation of the transactivation ability of Mycd. These findings provide a new insight into the functional regulation of Mycd family members.

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland

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Tuominen Hannu

2008-12-01

Full Text Available Abstract Background Frontotemporal lobar degeneration (FTLD consists of a clinically and neuropathologically heterogeneous group of syndromes affecting the frontal and temporal lobes of the brain. Mutations in microtubule-associated protein tau (MAPT, progranulin (PGRN and charged multi-vesicular body protein 2B (CHMP2B are associated with familial forms of the disease. The prevalence of these mutations varies between populations. The H1 haplotype of MAPT has been found to be closely associated with tauopathies and with sporadic FTLD. Our aim was to investigate MAPT mutations and haplotype frequencies in a clinical series of patients with FTLD in Northern Finland. Methods MAPT exons 1, 2 and 9–13 were sequenced in 59 patients with FTLD, and MAPT haplotypes were analysed in these patients, 122 patients with early onset Alzheimer's disease (eoAD and 198 healthy controls. Results No pathogenic mutations were found. The H2 allele frequency was 11.0% (P = 0.028 in the FTLD patients, 9.8% (P = 0.029 in the eoAD patients and 5.3% in the controls. The H2 allele was especially clustered in patients with a positive family history (P = 0.011 but did not lower the age at onset of the disease. The ApoE4 allele frequency was significantly increased in the patients with eoAD and in those with FTLD. Conclusion We conclude that although pathogenic MAPT mutations are rare in Northern Finland, the MAPT H2 allele may be associated with increased risks of FTLD and eoAD in the Finnish population.

The effect of using genealogy-based haplotypes for genomic prediction.

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Edriss, Vahid; Fernando, Rohan L; Su, Guosheng; Lund, Mogens S; Guldbrandtsen, Bernt

2013-03-06

Genomic prediction uses two sources of information: linkage disequilibrium between markers and quantitative trait loci, and additive genetic relationships between individuals. One way to increase the accuracy of genomic prediction is to capture more linkage disequilibrium by regression on haplotypes instead of regression on individual markers. The aim of this study was to investigate the accuracy of genomic prediction using haplotypes based on local genealogy information. A total of 4429 Danish Holstein bulls were genotyped with the 50K SNP chip. Haplotypes were constructed using local genealogical trees. Effects of haplotype covariates were estimated with two types of prediction models: (1) assuming that effects had the same distribution for all haplotype covariates, i.e. the GBLUP method and (2) assuming that a large proportion (π) of the haplotype covariates had zero effect, i.e. a Bayesian mixture method. About 7.5 times more covariate effects were estimated when fitting haplotypes based on local genealogical trees compared to fitting individuals markers. Genealogy-based haplotype clustering slightly increased the accuracy of genomic prediction and, in some cases, decreased the bias of prediction. With the Bayesian method, accuracy of prediction was less sensitive to parameter π when fitting haplotypes compared to fitting markers. Use of haplotypes based on genealogy can slightly increase the accuracy of genomic prediction. Improved methods to cluster the haplotypes constructed from local genealogy could lead to additional gains in accuracy.

Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C.

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Chen, Hong; Sun, Min; Fan, Zhen; Tong, Maoqing; Chen, Guodong; Li, Danhui; Ye, Jihui; Yang, Yumin; Zhu, Yongding; Zhu, Jianhua

2017-12-04

Here, we reported a Han Chinese essential hypertensive pedigree based on clinical hereditary and molecular data. To know the molecular basis on this family, mitochondrial genome of one proband from the family was identified through direct sequencing analysis. The age of onset year and affected degree of patients are different in this family. And matrilineal family members carrying C4375T mutation and belong to Eastern Asian halopgroup C. Phylogenetic analysis shows 4375C is highly conservative in 17 species. It is suggested that these mutations might participate in the development of hypertension in this family. And halopgroup C might play a modifying role on the phenotype in this Chinese hypertensive family.

SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability.

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Dufay, J Noelia; Fernández-Murray, J Pedro; McMaster, Christopher R

2017-06-07

The SLC25 family member SLC25A38 (Hem25 in yeast) was recently identified as a mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis. Mutations in the human SLC25A38 gene cause congenital sideroblastic anemia. The full extent to which SLC25 family members coregulate heme synthesis with other mitochondrial functions is not clear. In this study, we surveyed 29 nonessential SLC25 family members in Saccharomyces cerevisiae for their ability to support growth in the presence and absence of HEM25 Six SLC25 family members were identified that were required for growth or for heme synthesis in cells lacking Hem25 function. Importantly, we determined that loss of function of the SLC25 family member Flx1, which imports FAD into mitochondria, together with loss of function of Hem25, resulted in inability to grow on media that required yeast cells to supply energy using mitochondrial respiration. We report that specific components of complexes of the electron transport chain are decreased in the absence of Flx1 and Hem25 function. In addition, we show that mitochondria from flx1 Δ hem25 Δ cells contain uncharacterized Cox2-containing high molecular weight aggregates. The functions of Flx1 and Hem25 provide a facile explanation for the decrease in heme level, and in specific electron transport chain complex components. Copyright © 2017 Dufay et al.

SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability

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J. Noelia Dufay

2017-06-01

Full Text Available The SLC25 family member SLC25A38 (Hem25 in yeast was recently identified as a mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis. Mutations in the human SLC25A38 gene cause congenital sideroblastic anemia. The full extent to which SLC25 family members coregulate heme synthesis with other mitochondrial functions is not clear. In this study, we surveyed 29 nonessential SLC25 family members in Saccharomyces cerevisiae for their ability to support growth in the presence and absence of HEM25. Six SLC25 family members were identified that were required for growth or for heme synthesis in cells lacking Hem25 function. Importantly, we determined that loss of function of the SLC25 family member Flx1, which imports FAD into mitochondria, together with loss of function of Hem25, resulted in inability to grow on media that required yeast cells to supply energy using mitochondrial respiration. We report that specific components of complexes of the electron transport chain are decreased in the absence of Flx1 and Hem25 function. In addition, we show that mitochondria from flx1Δ hem25Δ cells contain uncharacterized Cox2-containing high molecular weight aggregates. The functions of Flx1 and Hem25 provide a facile explanation for the decrease in heme level, and in specific electron transport chain complex components.

Paradoxical role of an Egr transcription factor family member, Egr2/Krox20, in learning and memory

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Roseline Poirier

2007-12-01

Full Text Available It is well established that Egr1/zif268, a member of the Egr family of transcription factors, is critical for the consolidation of several forms of memories. Recently, the Egr3 family member has also been implicated in learning and memory. Because Egr family members encode closely related zinc-finger transcription factors sharing a highly homologous DNA binding domain that recognises the same DNA sequence, they may have related functions in brain. Another Egr family member expressed in brain, Egr2/Krox20 is known to be crucial for normal hindbrain development and has been implicated in several inherited peripheral neuropathies; however, due to Egr2-null mice perinatal lethality, its potential role in cognitive functions in the adult has not been yet explored. Here, we generated Egr2 conditional mutant mice allowing postnatal, forebrain-specific Cre-mediated Egr2 excision and tested homozygous, heterozygous and control littermates on a battery of behavioural tasks to evaluate motor capacity, exploratory behaviour, emotional reactivity and learning and memory performance in spatial and non-spatial tasks. Egr2-deficient mice had no sign of locomotor, exploratory or anxiety disturbances. Surprisingly, they also had no impairment in spatial learning and memory, taste aversion memory or fear memory using a trace conditioning paradigm. On the contrary, Egr2-deficient mice had improved performance in motor learning on a rotarod, and in object recognition memory. These results clearly do not extend the phenotypic consequences resulting from either Egr1 or Egr3 loss-of-function to Egr2. In contrast, they indicate that Egr family members may have different, and in certain circumstances antagonistic functions in the adult brain.

Strategies for haplotype-based association mapping in complex pedigreed populations

DEFF Research Database (Denmark)

Boleckova, J; Christensen, Ole Fredslund; Sørensen, Peter

2012-01-01

In association mapping, haplotype-based methods are generally regarded to provide higher power and increased precision than methods based on single markers. For haplotype-based association mapping most studies use a fixed haplotype effect in the model. However, an increase in haplotype length inc...

Strategies for coping with family members of patients with mental disorders.

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Pompeo, Daniele Alcalá; Carvalho, Arélica de; Olive, Aline Morgado; Souza, Maria da Graça Girade; Galera, Sueli Aparecida Frari

2016-09-09

to identify the coping strategies of family members of patients with mental disorders and relate them to family member sociodemographic variables and to the patient's clinical variables. this was a descriptive study conducted at a psychiatric hospital in the interior of the state of São Paulo, with 40 family members of hospitalized patients over the age of 18, and who followed the patient before and during hospitalization. We used tools to characterize the subjects and the Folkman and Lazarus Inventory of Coping Strategies. the coping strategies most often used by family members were social support and problem solving. Mothers and fathers used more functional strategies (self-control p=0.037, positive reappraisal p=0.037, and social support p=0,021). We found no significant differences between the strategies and other variables examined. despite the suffering resulting from the illness of a dear one, family members make more use of functional strategies, allowing them to cope with adversities in a more well-adjusted way. identificar as estratégias de enfrentamento de familiares de pacientes com transtornos mentais e relacioná-las com as variáveis sociodemográficas do familiar e clínicas do paciente. estudo descritivo, desenvolvido em hospital psiquiátrico do interior do estado de São Paulo, com 40 familiares de pacientes internados, maiores de 18 anos e que acompanhavam o paciente antes e durante a internação. Foram utilizados instrumentos para caracterização dos sujeitos e o Inventário de Estratégias de Enfrentamento de Folkman e Lazarus. as estratégias de enfrentamento mais utilizadas pelos familiares foram suporte social e resolução de problemas. Pais e mães utilizaram mais estratégias funcionais (autocontrole p=0,037; reavaliação positiva p=0,037; suporte social p=0,021). Não foram evidenciadas diferenças significativas entre as estratégias e as demais variáveis estudadas. apesar do sofrimento causado pelo impacto do adoecimento do seu

[Meanings attributed by family members in pediatrics regarding their interactions with nursing professionals].

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Gomes, Giovana Calcagno; Xavier, Daiani Modernel; Pintanel, Aline Campelo; Farias, Dóris Helena Ribeiro; Lunardi, Valéria Lerch; Aquino, Deise Ribeiro

2015-12-01

Understanding the meanings attributed by family caregivers of children in hospital environments about their interactions with nursing professionals. This qualitative study used Symbolic Interactionism as a theoretical reference and Grounded Theory as the methodological framework. It was carried out in a Pediatrics Center in southern Brazil, in the first half of 2013. Participants were 15 family caregivers of hospitalized children. Data were collected through interviews and submitted to open and axial analysis. Interactions with the nursing team enable family to trust or distrust in the provided child care and to positively evaluate the care received. Interactions between family members and the nursing team contribute to the significance attributed by the family to the nursing care received by the child. Nurses should be aware of the attitudes of the nursing team regarding the child and their family, prioritizing humanized care.

Family members' involvement in elder care provision in nursing homes and their considerations about financial compensation: a qualitative study.

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Habjanič, Ana; Pajnkihar, Majda

2013-01-01

The aim of this study was to establish how family members are involved in elder care provision in nursing homes; this included research into their feelings about potentially extending their involvement to obtain financial benefits as compensation for high accommodation costs. Family members remain involved in the caring process after their relatives have been admitted to an institution. On average, accommodation costs in nursing homes in Slovenia have risen above the residents' retirement pension, and families must supplement the difference. Because of this, familial involvement should be linked to reduced accommodation costs. This research employed a non-experimental, descriptive study design through unstructured interviews. Participants included fifty family members (n=50) who visit their relatives in nursing homes. Data were collected in 2010 at five nursing homes in Slovenia and processed by means of conventional content analysis. The major themes that emerged from the content analysis, describing family involvement, were as follows: visiting and making oneself useful, delivery of items for personal use, hands-on care, physical therapy and organization of nursing home activities. Family members showed some interest in receiving financial compensation for their involvement. The proposed financial compensation may be a delicate and morally questionable matter but would involve fairness and transparency, while enabling easier organization of elder care provision. Eventually, nursing home residents' well-being could be improved. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Expression of most matrix metalloproteinase family members in breast cancer represents a tumor-induced host response.

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Heppner, K. J.; Matrisian, L. M.; Jensen, R. A.; Rodgers, W. H.

1996-01-01

Matrix metalloproteinase (MMP) family members have been associated with advanced-stage cancer and contribute to tumor progression, invasion, and metastasis as determined by inhibitor studies. In situ hybridization was performed to analyze the expression and localization of all known MMPs in a series of human breast cancer biopsy specimens. Most MMPs were localized to tumor stroma, and all MMPs had very distinct expression patterns. Matrilysin was expressed by morphologically normal epithelial ducts within tumors and in tissue from reduction mammoplasties, and by epithelial-derived tumor cells. Many family members, including stromelysin-3, gelatinase A, MT-MMP, interstitial collagenase, and stromelysin-1 were localized to fibroblasts of tumor stroma of invasive cancers but in quite distinct, and generally widespread, patterns. Gelatinase B, collagenase-3, and metalloelastase expression were more focal; gelatinase B was primarily localized to endothelial cells, collagenase-3 to isolated tumor cells, and metalloelastase to cytokeratin-negative, macrophage-like cells. The MMP inhibitor, TIMP-1, was expressed in both stromal and tumor components in most tumors, and neither stromelysin-2 nor neutrophil collagenase were detected in any of the tumors. These results indicate that there is very tight and complex regulation in the expression of MMP family members in breast cancer that generally represents a host response to the tumor and emphasize the need to further evaluate differential functions for MMP family members in breast tumor progression. Images Figure 1 Figure 2 Figure 3 PMID:8686751

The family’s experience of having a mentally ill family member

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Margaret Ngqoboka

1998-11-01

Full Text Available The purpose of this study was firstly to explore and describe the experience of families with a mentally ill family member and secondly to describe guidelines (based on the results obtained for the advanced psychiatric nurse practitioner to assist families in mobilising their resources to facilitate the promotion, maintenance and restoration of their mental health as an integral part of health. Opsomming Die doel van hierdie studie was eerstens om die belewenis van gesinne wat 'n geestesongestelde gesinslid het, te verken en beskryfen in die tweede piek om riglyne te beskryfvir die gevorderde psigiatriese verpleegpraktisyn om hierdie gesinne the help in die mobilise ring van hulpbronne om hul geestes gesondheid as integrate deel van gesondheid te bevorder, te handhaaf en te herstel. *Please note: This is a reduced version of the abstract. Please refer to PDF for full text.

The Effect of Providing Life Support on Nurses' Decision Making Regarding Life Support for Themselves and Family Members in Japan.

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Shaku, Fumio; Tsutsumi, Madoka

2016-12-01

Decision making in terminal illness has recently received increased attention. In Japan, patients and their families typically make decisions without understanding either the severity of illness or the efficacy of life-supporting treatments at the end of life. Japanese culture traditionally directs the family to make decisions for the patient. This descriptive study examined the influence of the experiences of 391 Japanese nurses caring for dying patients and family members and how that experience changed their decision making for themselves and their family members. The results were mixed but generally supported the idea that the more experience nurses have in caring for the dying, the less likely they would choose to institute lifesupport measures for themselves and family members. The results have implications for discussions on end-of-life care. © The Author(s) 2016.

The bereavement process of tissue donors' family members: responses of grief, posttraumatic stress, personal growth, and ongoing attachment.

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Hogan, Nancy; Schmidt, Lee; Coolican, Maggie

2014-09-01

Donated tissues can save lives of critically burned patients and those needing a heart valve replacement. Tissues enhance the lives of a million recipients annually through transplants of corneas, bones, tendons, and vein grafts. Unfortunately, the need for some tissues exceeds their availability. The goal of the quantitative component of this mixed methods study was to identify the grief, posttraumatic stress, personal growth, and ongoing attachment response of tissue donors' family members during a 2-year period. Simultaneous mixed methods design. The sample for this study consisted of 52 tissue donors' family members, mostly widows (83%). Data were collected for 2 years to test changes in grief, posttraumatic stress, panic behavior, personal growth, and ongoing attachment. The bereaved participants experienced significantly fewer grief reactions, less posttraumatic stress, and greater personal growth. There was no significant difference in the ongoing attachment to their deceased loved ones. The results of this study may reinforce the positive meaning that tissue donors' family members can find in tissue donation. Findings also demonstrate that the bereavement process corroborates contemporary bereavement and attachment theories. Health professionals are encouraged to seek donations with less worry that tissue donors' family members will experience adverse outcomes during bereavement.

How important is resilience among family members supporting relatives with traumatic brain injury or spinal cord injury?

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Simpson, Grahame; Jones, Kate

2013-04-01

To investigate the relationship between resilience and affective state, caregiver burden and caregiving strategies among family members of people with traumatic brain or spinal cord injury. An observational prospective cross-sectional study. Inpatient and community rehabilitation services. Convenience sample of 61 family respondents aged 18 years or older at the time of the study and supporting a relative with severe traumatic brain injury (n = 30) or spinal cord injury (n= 31). Resilience Scale, Positive And Negative Affect Schedule, Caregiver Burden Scale, Functional Independence Measure, Carer's Assessment of Managing Index. Correlational analyses found a significant positive association between family resilience scores and positive affect (r(s) = 0.67), and a significant negative association with negative affect (r(s) = -0.47) and caregiver burden scores (r(s) = -0.47). No association was found between family resilience scores and their relative's severity of functional impairment. Family members with high resilience scores rated four carer strategies as significantly more helpful than family members with low resilience scores. Between-groups analyses (families supporting relative with traumatic brain injury vs. spinal cord injury) found no significant differences in ratings of the perceived helpfulness of carer strategies once Bonferroni correction for multiple tests was applied. Self-rated resilience correlated positively with positive affect, and negatively with negative affect and caregiver burden. These results are consistent with resilience theories which propose that people with high resilience are more likely to display positive adaptation when faced by significant adversity.

Meanings attributed by family members in pediatrics regarding their interactions with nursing professionals

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Giovana Calcagno Gomes

2015-12-01

Full Text Available Abstract OBJECTIVE Understanding the meanings attributed by family caregivers of children in hospital environments about their interactions with nursing professionals. METHODS This qualitative study used Symbolic Interactionism as a theoretical reference and Grounded Theory as the methodological framework. It was carried out in a Pediatrics Center in southern Brazil, in the first half of 2013. Participants were 15 family caregivers of hospitalized children. Data were collected through interviews and submitted to open and axial analysis. RESULTS Interactions with the nursing team enable family to trust or distrust in the provided child care and to positively evaluate the care received. CONCLUSION Interactions between family members and the nursing team contribute to the significance attributed by the family to the nursing care received by the child. Nurses should be aware of the attitudes of the nursing team regarding the child and their family, prioritizing humanized care.

iHAP – integrated haplotype analysis pipeline for characterizing the haplotype structure of genes

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Lim Yun Ping

2006-12-01

Full Text Available Abstract Background The advent of genotype data from large-scale efforts that catalog the genetic variants of different populations have given rise to new avenues for multifactorial disease association studies. Recent work shows that genotype data from the International HapMap Project have a high degree of transferability to the wider population. This implies that the design of genotyping studies on local populations may be facilitated through inferences drawn from information contained in HapMap populations. Results To facilitate analysis of HapMap data for characterizing the haplotype structure of genes or any chromosomal regions, we have developed an integrated web-based resource, iHAP. In addition to incorporating genotype and haplotype data from the International HapMap Project and gene information from the UCSC Genome Browser Database, iHAP also provides capabilities for inferring haplotype blocks and selecting tag SNPs that are representative of haplotype patterns. These include block partitioning algorithms, block definitions, tag SNP definitions, as well as SNPs to be "force included" as tags. Based on the parameters defined at the input stage, iHAP performs on-the-fly analysis and displays the result graphically as a webpage. To facilitate analysis, intermediate and final result files can be downloaded. Conclusion The iHAP resource, available at http://ihap.bii.a-star.edu.sg, provides a convenient yet flexible approach for the user community to analyze HapMap data and identify candidate targets for genotyping studies.

Narratives of family members on the suicide of older adults in an Amazonian metropolis.

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Costa, André Luis Sales da; Souza, Maximiliano Loiola Ponte de

2017-12-11

To analyze the narratives of family members on the suicide of older adults in Manaus, State of Amazonas, Brazil. This is a qualitative study of the narratives of eight older adults, who committed suicide in the period of 2001-2012. In the analytic-interpretative process, we have tried to perform the hermeneutic double exercise: to interpret the interpretation of narrators. We have used as theoretical references authors who have investigated suicide from the perspective of gender and its correlations with the sociofamiliar context and with mental disorders. The family members would conceive the suicide of the older adults as related to losses, which would occur in a strained sociofamiliar scenario, leading to the appearance of psychopathological situations that, if not properly followed, would result in death. There would also be something inexorable in this sequence of events. The older adults, by the very time of their life, would tend to accumulate losses of different aspects in their trajectory. Their rigor and other relational limitations would simultaneously stress family relationships, favoring conflicts, and hinder adherence to treatment. This model of understanding, which has a wide support in the hegemonic medical-psychological discourse, in a sense minimizes possible self- or heteroaccusations directed at family members. Special attention should be given to identify the older adults who present losses, family conflicts, and signs of psychopathology and who do not follow-up psychosocial care services. Strategies to help older adults handle family conflicts and losses, empowering them, should be developed and made available by intersectoral actions. The adequate treatment of psychopathological conditions should be implanted in a context in which active search mechanisms also existed for older adults who abandoned follow-up. The implementation of these actions is a challenge to be faced in Manaus, State of Amazonas, Brazil, where there is a low availability

Narratives of family members on the suicide of older adults in an Amazonian metropolis

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André Luis Sales da Costa

2017-12-01

Full Text Available ABSTRACT OBJECTIVE To analyze the narratives of family members on the suicide of older adults in Manaus, State of Amazonas, Brazil. METHODS This is a qualitative study of the narratives of eight older adults, who committed suicide in the period of 2001-2012. In the analytic-interpretative process, we have tried to perform the hermeneutic double exercise: to interpret the interpretation of narrators. We have used as theoretical references authors who have investigated suicide from the perspective of gender and its correlations with the sociofamiliar context and with mental disorders. RESULTS The family members would conceive the suicide of the older adults as related to losses, which would occur in a strained sociofamiliar scenario, leading to the appearance of psychopathological situations that, if not properly followed, would result in death. There would also be something inexorable in this sequence of events. The older adults, by the very time of their life, would tend to accumulate losses of different aspects in their trajectory. Their rigor and other relational limitations would simultaneously stress family relationships, favoring conflicts, and hinder adherence to treatment. This model of understanding, which has a wide support in the hegemonic medical-psychological discourse, in a sense minimizes possible self- or heteroaccusations directed at family members. CONCLUSIONS Special attention should be given to identify the older adults who present losses, family conflicts, and signs of psychopathology and who do not follow-up psychosocial care services. Strategies to help older adults handle family conflicts and losses, empowering them, should be developed and made available by intersectoral actions. The adequate treatment of psychopathological conditions should be implanted in a context in which active search mechanisms also existed for older adults who abandoned follow-up. The implementation of these actions is a challenge to be faced in

Haplotype-based stratification of Huntington's disease.

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Chao, Michael J; Gillis, Tammy; Atwal, Ranjit S; Mysore, Jayalakshmi Srinidhi; Arjomand, Jamshid; Harold, Denise; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H; Kwak, Seung; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Lee, Jong-Min

2017-11-01

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplotype backbones, reflecting more than one ancestral origin of the same type of mutation. In view of the therapeutic potential of mutant allele-specific gene silencing, we have compared and integrated two major systems of HTT haplotype definition, combining data from 74 sequence variants to identify the most frequent disease-associated and control chromosome backbones and revealing that there is potential for additional resolution of HD haplotypes. We have used the large collection of 4078 heterozygous HD subjects analyzed in our recent genome-wide association study of HD age at onset to estimate the frequency of these haplotypes in European subjects, finding that common genetic variation at HTT can distinguish the normal and CAG-expanded chromosomes for more than 95% of European HD individuals. As a resource for the HD research community, we have also determined the haplotypes present in a series of publicly available HD subject-derived fibroblasts, induced pluripotent cells, and embryonic stem cells in order to facilitate efforts to develop inclusive methods of allele-specific HTT silencing applicable to most HD patients. Our data providing genetic guidance for therapeutic gene-based targeting will significantly contribute to the developments of rational treatments and implementation of precision medicine in HD.

Patients' and family members' views on how clinicians enact and how they should enact incident disclosure: the "100 patient stories" qualitative study.

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Iedema, Rick; Allen, Suellen; Britton, Kate; Piper, Donella; Baker, Andrew; Grbich, Carol; Allan, Alfred; Jones, Liz; Tuckett, Anthony; Williams, Allison; Manias, Elizabeth; Gallagher, Thomas H

2011-07-25

To investigate patients' and family members' perceptions and experiences of disclosure of healthcare incidents and to derive principles of effective disclosure. Retrospective qualitative study based on 100 semi-structured, in depth interviews with patients and family members. Nationwide multisite survey across Australia. 39 patients and 80 family members who were involved in high severity healthcare incidents (leading to death, permanent disability, or long term harm) and incident disclosure. Recruitment was via national newspapers (43%), health services where the incidents occurred (28%), two internet marketing companies (27%), and consumer organisations (2%). Participants' recurrent experiences and concerns expressed in interviews. Most patients and family members felt that the health service incident disclosure rarely met their needs and expectations. They expected better preparation for incident disclosure, more shared dialogue about what went wrong, more follow-up support, input into when the time was ripe for closure, and more information about subsequent improvement in process. This analysis provided the basis for the formulation of a set of principles of effective incident disclosure. Despite growing prominence of open disclosure, discussion about healthcare incidents still falls short of patient and family member expectations. Healthcare organisations and providers should strengthen their efforts to meet patients' (and family members') needs and expectations.

Association of serotonin receptor 2a haplotypes with obsessive-compulsive disorder and its treatment response in Iranian patients: a genetic and pharmacogenetic study.

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Sina, Marzie; Ahmadiani, Abolhassan; Asadi, Sareh; Shams, Jamal

2018-01-01

Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder causing intrusive thoughts or repetitive behaviors. Serotonin reuptake inhibitors are used for OCD treatment, but 40%-60% of patients do not respond to them adequately. In this study, the associations of serotonin receptor 2a polymorphisms rs6311 and rs6313 with OCD, its familial form and fluvoxamine treatment response in Iranian population were investigated. Association analyses were conducted in 293 OCD cases fulfilling the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR and 245 controls. Pharmacotherapy was defined as 12 weeks of treatment with fluvoxamine (150-300 mg). Treatment response was considered as >25% reduction in Yale-Brown Obsessive Compulsive Scale score. Genotyping was performed by means of PCR-RFLP. The results showed no association of rs6311 or rs6313 with OCD, but their haplotypes had different distribution patterns in cases and controls. Moreover, rs6313 was associated with the familial form of OCD in females significantly ( P =0.005) under the recessive genetic model. Moreover, rs6311-rs6313 haplotypes were associated with fluvoxamine treatment response in OCD patients with more AC and less AT in responders. HTR2A haplotypes are associated with OCD and its treatment response with a fluvoxamine in Iranian patients. Furthermore, the observed association of rs6313 with the familial form of OCD in females suggests different genetic background of OCD familial and non-familial forms, which needs further investigation.

MicroRNA-125 family members exert a similar role in the regulation of murine hematopoiesis.

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Wojtowicz, Edyta E; Walasek, Marta A; Broekhuis, Mathilde J C; Weersing, Ellen; Ritsema, Martha; Ausema, Albertina; Bystrykh, Leonid V; de Haan, Gerald

2014-10-01

MicroRNAs (miRNAs) are crucial for proper functioning of hematopoietic stem and progenitor cells (HSPCs). Members of the miRNA-125 family (consisting of miR-125a, miR-125b1, and miR-125b2) are known to confer a proliferative advantage on cells upon overexpression, to decrease the rate of apoptosis by targeting proapoptotic genes, and to promote differentiation toward the myeloid lineage in mice. However, many distinct biological effects of the three miR-125 species have been reported as well. In the current study, we set out to assess whether the three miRNA-125s that carry identical seed sequences could be functionally different. Our data show that overexpression of each of the three miR-125 family members preserves HSPCs in a primitive state in vitro, results in a competitive advantage upon serial transplantation, and promotes skewing toward the myeloid lineage. All miR-125 family members decreased the pool of phenotypically defined Lin(-)Sca(+)Kit(+)CD48(-)CD150(+) long-term hematopoietic stem cells, simultaneously increasing the self-renewal activity upon secondary transplantation. The downregulation of miR-125s in hematopoietic stem cells abolishes these effects and impairs long-term contribution to blood cell production. The introduction of a point mutation within the miRNA-125 seed sequence abolishes all abovementioned effects and leads to the restoration of normal hematopoiesis. Our results show that all miR-125 family members are similar in function, they likely operate in a seed-sequence-dependent manner, and they induce a highly comparable hematopoietic phenotype. Copyright © 2014 ISEH - International Society for Experimental Hematology. Published by Elsevier Inc. All rights reserved.

Bringing Value-Based Perspectives to Care: Including Patient and Family Members in Decision-Making Processes

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Graeme Kohler

2017-11-01

Full Text Available n a gap in consistent application of system-level strategies that can effectively translate organizational policies around patient and family engagement into practice. Methods The broad objective of this initiative was to develop a system-level implementation strategy to include patient and family advisors (PFAs at decision-making points in primary healthcare (PHC based on wellestablished evidence and literature. In this opportunity sponsored by the Canadian Foundation for Healthcare Improvement (CFHI a co-design methodology, also well-established was applied in identifying and developing a suitable implementation strategy to engage PFAs as members of quality teams in PHC. Diabetes management centres (DMCs was selected as the pilot site to develop the strategy. Key steps in the process included review of evidence, review of the current state in PHC through engagement of key stakeholders and a co-design approach. Results The project team included a diverse representation of members from the PHC system including patient advisors, DMC team members, system leads, providers, Public Engagement team members and CFHI improvement coaches. Key outcomes of this 18-month long initiative included development of a working definition of patient and family engagement, development of a Patient and Family Engagement Resource Guide and evaluation of the resource guide. Conclusion This novel initiative provided us an opportunity to develop a supportive system-wide implementation plan and a strategy to include PFAs in decision-making processes in PHC. The well-established co-design methodology further allowed us to include value-based (customer driven quality and experience of care perspectives of several important stakeholders including patient advisors. The next step will be to implement the strategy within DMCs, spread the strategy PHC, both locally and provincially with a focus on sustainability.

Arabidopsis thaliana BTB/ POZ-MATH proteins interact with members of the ERF/AP2 transcription factor family.

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Weber, Henriette; Hellmann, Hanjo

2009-11-01

In Arabidopsis thaliana, the BTB/POZ-MATH (BPM) proteins comprise a small family of six members. They have been described previously to use their broad complex, tram track, bric-a-brac/POX virus and zinc finger (BTB/POZ) domain to assemble with CUL3a and CUL3b and potentially to serve as substrate adaptors to cullin-based E3-ligases in plants. In this article, we show that BPMs can also assemble with members of the ethylene response factor/Apetala2 transcription factor family, and that this is mediated by their meprin and TRAF (tumor necrosis factor receptor-associated factor) homology (MATH) domain. In addition, we provide a detailed description of BPM gene expression patterns in different tissues and on abiotic stress treatments, as well as their subcellular localization. This work connects, for the first time, BPM proteins with ethylene response factor/Apetala2 family members, which is likely to represent a novel regulatory mechanism of transcriptional control.

Prion gene haplotypes of U.S. cattle

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Harhay Gregory P

2006-11-01

Full Text Available Abstract Background Bovine spongiform encephalopathy (BSE is a fatal neurological disorder characterized by abnormal deposits of a protease-resistant isoform of the prion protein. Characterizing linkage disequilibrium (LD and haplotype networks within the bovine prion gene (PRNP is important for 1 testing rare or common PRNP variation for an association with BSE and 2 interpreting any association of PRNP alleles with BSE susceptibility. The objective of this study was to identify polymorphisms and haplotypes within PRNP from the promoter region through the 3'UTR in a diverse sample of U.S. cattle genomes. Results A 25.2-kb genomic region containing PRNP was sequenced from 192 diverse U.S. beef and dairy cattle. Sequence analyses identified 388 total polymorphisms, of which 287 have not previously been reported. The polymorphism alleles define PRNP by regions of high and low LD. High LD is present between alleles in the promoter region through exon 2 (6.7 kb. PRNP alleles within the majority of intron 2, the entire coding sequence and the untranslated region of exon 3 are in low LD (18.0 kb. Two haplotype networks, one representing the region of high LD and the other the region of low LD yielded nineteen different combinations that represent haplotypes spanning PRNP. The haplotype combinations are tagged by 19 polymorphisms (htSNPS which characterize variation within and across PRNP. Conclusion The number of polymorphisms in the prion gene region of U.S. cattle is nearly four times greater than previously described. These polymorphisms define PRNP haplotypes that may influence BSE susceptibility in cattle.

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

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Kapoor, Saketh; Bindu, Parayil Sankaran; Taly, Arun B; Sinha, Sanjib; Gayathri, Narayanappa; Rani, S Vasantha; Chandak, Giriraj Ratan; Kumar, Arun

2012-01-01

Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentation defects of the eye, skin, and hair. It is caused by mutations in one of the following genes: PAX3 (paired box 3), MITF (microphthalmia-associated transcription factor), EDNRB (endothelin receptor type B), EDN3 (endothelin 3), SNAI2 (snail homolog 2, Drosophila) and SOX10 (SRY-box containing gene 10). Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene. The purpose of this study was to identify the genetic causes of WS and DMD in an Indian family with two patients: one affected with WS and DMD, and another one affected with only WS. Blood samples were collected from individuals for genomic DNA isolation. To determine the linkage of this family to the eight known WS loci, microsatellite markers were selected from the candidate regions and used to genotype the family. Exon-specific intronic primers for EDN3 were used to amplify and sequence DNA samples from affected individuals to detect mutations. A mutation in DMD was identified by multiplex PCR and multiplex ligation-dependent probe amplification method using exon-specific probes. Pedigree analysis suggested segregation of WS as an autosomal recessive trait in the family. Haplotype analysis suggested linkage of the family to the WS4B (EDN3) locus. DNA sequencing identified a novel missense mutation p.T98M in EDN3. A deletion mutation was identified in DMD. This study reports a novel missense mutation in EDN3 and a deletion mutation in DMD in the same Indian family. The present study will be helpful in genetic diagnosis of this family and increases the mutation spectrum of EDN3.

[Supply and demand in the meetings between mental health professionals and family members of people with mental disorders].

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Constantinidis, Teresinha Cid; de Andrade, Angela Nobre

2015-02-01

This paper is a development of a doctoral thesis presented at the Federal University of Espírito Santo. It seeks to analyze the elucidation of needs, development of supply and demand in the provision of care and the relationship between mental health professionals and family members of people with mental disorders. A qualitative research approach was used as the method of choice to achieve the proposed objectives. Semi-structured interviews were conducted with mental health professionals from two psychosocial care centers (CAPS) in the city of Vitória, Espírito Santo, and with family members of frequenters of these institutions. After thematic analysis of content, senses, meanings and values assigned to the needs, supplies and demands present in this relationship were revealed. It highlighted the disparity between supply and demand and the lack of awareness of the needs of family members and their demands related to the routines of mental institutions. Using ethics in the philosophy of Spinoza as a benchmark, the ramifications of this process are discussed in the meetings between mental health professionals and family members of people with mental disorders and the micropolitics of the provision of care in the context of these actors.

Caregiving to persons living with HIV/AIDS: experiences of Vietnamese family members.

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Lundberg, Pranee C; Doan, Thoa Thi Kim; Dinh, Thu Thi Xuan; Oach, Nhung Kim; Le, Phong Hoang

2016-03-01

To examine the experiences of caregiving among Vietnamese family members of persons living with HIV/AIDS. As the number of persons living with HIV/AIDS increases, the need of family caregivers who can take responsibility for the home care of these persons increases. Vietnam has one of the fastest growing HIV epidemics in Asia. A descriptive cross-sectional study with quantitative and qualitative methods was used. A purposive sample of 104 family caregivers, both male and female, participated voluntarily by answering a questionnaire of caregiver burden, and 20 of them participated in in-depth interview. Female caregivers were mainly mothers and wives while male caregivers were mainly husbands, fathers and siblings. The largest group of family caregivers reported moderate to severe burden. There was no difference between genders in total caregiver burden, but there were several differences between older and younger caregivers in some items of caregiver burden. Five categories of experiences emerged: Different types of caregiving to persons living with HIV/AIDS, cultural and religious issues associated with caregiving, keeping secret to avoid stigma and discrimination, lack of knowledge about disease and provision of care, and fear, anxiety and frustration. Stigma and discrimination should be decreased by providing knowledge to the general public about HIV/AIDS, in particular about ways of transmission and protection. Special knowledge should be given to family caregivers to enable them to give care to persons living with HIV/AIDS at home. This could be done through culturally appropriate training/intervention programmes in which coping methods should be included. Support group interventions should also be carried through. The results obtained can be used as baseline information. Health care providers should consider gender, age and culture of family members of persons living with HIV/AIDS. Knowledge about HIV/AIDS, provision of care at home and in hospital, and

MicroRNA-99 family members suppress Homeobox A1 expression in epithelial cells.

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Chen, Dan; Chen, Zujian; Jin, Yi; Dragas, Dragan; Zhang, Leitao; Adjei, Barima S; Wang, Anxun; Dai, Yang; Zhou, Xiaofeng

2013-01-01

The miR-99 family is one of the evolutionarily most ancient microRNA families, and it plays a critical role in developmental timing and the maintenance of tissue identity. Recent studies, including reports from our group, suggested that the miR-99 family regulates various physiological processes in adult tissues, such as dermal wound healing, and a number of disease processes, including cancer. By combining 5 independent genome-wide expression profiling experiments, we identified a panel of 266 unique transcripts that were down-regulated in epithelial cells transfected with miR-99 family members. A comprehensive bioinformatics analysis using 12 different sequence-based microRNA target prediction algorithms revealed that 81 out of these 266 down-regulated transcripts are potential direct targets for the miR-99 family. Confirmation experiments and functional analyses were performed to further assess 6 selected miR-99 target genes, including mammalian Target of rapamycin (mTOR), Homeobox A1 (HOXA1), CTD small phosphatase-like (CTDSPL), N-myristoyltransferase 1 (NMT1), Transmembrane protein 30A (TMEM30A), and SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (SMARCA5). HOXA1 is a known proto-oncogene, and it also plays an important role in embryonic development. The direct targeting of the miR-99 family to two candidate binding sequences located in the HOXA1 mRNA was confirmed using a luciferase reporter gene assay and a ribonucleoprotein-immunoprecipitation (RIP-IP) assay. Ectopic transfection of miR-99 family reduced the expression of HOXA1, which, in consequence, down-regulated the expression of its downstream gene (i.e., Bcl-2) and led to reduced proliferation and cell migration, as well as enhanced apoptosis. In summary, we identified a number of high-confidence miR-99 family target genes, including proto-oncogene HOXA1, which may play an important role in regulating epithelial cell proliferation and migration during

MicroRNA-99 family members suppress Homeobox A1 expression in epithelial cells.

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Dan Chen

Full Text Available The miR-99 family is one of the evolutionarily most ancient microRNA families, and it plays a critical role in developmental timing and the maintenance of tissue identity. Recent studies, including reports from our group, suggested that the miR-99 family regulates various physiological processes in adult tissues, such as dermal wound healing, and a number of disease processes, including cancer. By combining 5 independent genome-wide expression profiling experiments, we identified a panel of 266 unique transcripts that were down-regulated in epithelial cells transfected with miR-99 family members. A comprehensive bioinformatics analysis using 12 different sequence-based microRNA target prediction algorithms revealed that 81 out of these 266 down-regulated transcripts are potential direct targets for the miR-99 family. Confirmation experiments and functional analyses were performed to further assess 6 selected miR-99 target genes, including mammalian Target of rapamycin (mTOR, Homeobox A1 (HOXA1, CTD small phosphatase-like (CTDSPL, N-myristoyltransferase 1 (NMT1, Transmembrane protein 30A (TMEM30A, and SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (SMARCA5. HOXA1 is a known proto-oncogene, and it also plays an important role in embryonic development. The direct targeting of the miR-99 family to two candidate binding sequences located in the HOXA1 mRNA was confirmed using a luciferase reporter gene assay and a ribonucleoprotein-immunoprecipitation (RIP-IP assay. Ectopic transfection of miR-99 family reduced the expression of HOXA1, which, in consequence, down-regulated the expression of its downstream gene (i.e., Bcl-2 and led to reduced proliferation and cell migration, as well as enhanced apoptosis. In summary, we identified a number of high-confidence miR-99 family target genes, including proto-oncogene HOXA1, which may play an important role in regulating epithelial cell proliferation and

Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.

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Furgeri, Daniela Tenório; Marson, Fernando Augusto Lima; Correia, Cyntia Arivabeni Araújo; Ribeiro, José Dirceu; Bertuzzo, Carmen Sílvia

2018-01-30

Nearly 2000 mutations in the cystic fibrosis transmembrane regulator (CFTR) gene have been reported. The F508del mutation occurs in approximately 50-65% of patients with cystic fibrosis (CF). However, molecular diagnosis is not always possible. Therefore, silent polymorphisms can be used to label the mutant allele in households of patients with CF. To verify the haplotypes of four polymorphisms at the CFTR locus in households of patients with CF for pre-fertilization, pre-implantation, and prenatal indirect mutation diagnosis to provide better genetic counseling for families and patients with CF and to associate the genotypes/haplotypes with the F508del mutation screening. GATT polymorphism analysis was performed using direct polymerase chain reaction amplification, and the MP6-D9, TUB09 and TUB18 polymorphism analyses were performed using restriction fragment length polymorphism. Nine haplotypes were found in 37 CFTR alleles, and of those, 24 were linked with the F508del mutation and 13 with other CFTR mutations. The 6 (GATT), C (MP6-D9), G (TUB09), and C (TUB18) haplotypes showed the highest prevalence (48%) of the mutant CFTR allele and were linked to the F508del mutation (64%). In 43% of households analyzed, at least one informative polymorphism can be used for the indirect diagnostic test. CFTR polymorphisms are genetic markers that are useful for identifying the mutant CFTR alleles in households of patients with CF when it is not possible to establish the complete CFTR genotype. Moreover, the polymorphisms can be used for indirect CFTR mutation identification in cases of pre-fertilization, pre-implantation and prenatal analysis. Copyright © 2017 Elsevier B.V. All rights reserved.

ErpC, a member of the complement regulator-acquiring family of surface proteins from Borrelia burgdorferi, possesses an architecture previously unseen in this protein family

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Caesar, Joseph J. E.; Johnson, Steven; Kraiczy, Peter; Lea, Susan M.

2013-01-01

The structure of ErpC, a member of the complement regulator-acquiring surface protein family from B. burgdorferi, has been solved, providing insights into the strategies of complement evasion by this zoonotic bacterium and suggesting a common architecture for other members of this protein family. Borrelia burgdorferi is a spirochete responsible for Lyme disease, the most commonly occurring vector-borne disease in Europe and North America. The bacterium utilizes a set of proteins, termed complement regulator-acquiring surface proteins (CRASPs), to aid evasion of the human complement system by recruiting and presenting complement regulator factor H on its surface in a manner that mimics host cells. Presented here is the atomic resolution structure of a member of this protein family, ErpC. The structure provides new insights into the mechanism of recruitment of factor H and other factor H-related proteins by acting as a molecular mimic of host glycosaminoglycans. It also describes the architecture of other CRASP proteins belonging to the OspE/F-related paralogous protein family and suggests that they have evolved to bind specific complement proteins, aiding survival of the bacterium in different hosts

Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus.

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Chul-Woo Pyo

Full Text Available The fast evolving human KIR gene family encodes variable lymphocyte receptors specific for polymorphic HLA class I determinants. Nucleotide sequences for 24 representative human KIR haplotypes were determined. With three previously defined haplotypes, this gave a set of 12 group A and 15 group B haplotypes for assessment of KIR variation. The seven gene-content haplotypes are all combinations of four centromeric and two telomeric motifs. 2DL5, 2DS5 and 2DS3 can be present in centromeric and telomeric locations. With one exception, haplotypes having identical gene content differed in their combinations of KIR alleles. Sequence diversity varied between haplotype groups and between centromeric and telomeric halves of the KIR locus. The most variable A haplotype genes are in the telomeric half, whereas the most variable genes characterizing B haplotypes are in the centromeric half. Of the highly polymorphic genes, only the 3DL3 framework gene exhibits a similar diversity when carried by A and B haplotypes. Phylogenetic analysis and divergence time estimates, point to the centromeric gene-content motifs that distinguish A and B haplotypes having emerged ~6 million years ago, contemporaneously with the separation of human and chimpanzee ancestors. In contrast, the telomeric motifs that distinguish A and B haplotypes emerged more recently, ~1.7 million years ago, before the emergence of Homo sapiens. Thus the centromeric and telomeric motifs that typify A and B haplotypes have likely been present throughout human evolution. The results suggest the common ancestor of A and B haplotypes combined a B-like centromeric region with an A-like telomeric region.

Haplotype Analysis Discriminates Genetic Risk for DR3-Associated Endocrine Autoimmunity and Helps Define Extreme Risk for Addison’s Disease

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Baker, Peter R.; Baschal, Erin E.; Fain, Pam R.; Triolo, Taylor M.; Nanduri, Priyaanka; Siebert, Janet C.; Armstrong, Taylor K.; Babu, Sunanda R.; Rewers, Marian J.; Gottlieb, Peter A.; Barker, Jennifer M.; Eisenbarth, George S.

2010-01-01

Context: Multiple autoimmune disorders (e.g. Addison’s disease, type 1 diabetes, celiac disease) are associated with HLA-DR3, but it is likely that alleles of additional genes in linkage disequilibrium with HLA-DRB1 contribute to disease. Objective: The objective of the study was to characterize major histocompatability complex (MHC) haplotypes conferring extreme risk for autoimmune Addison’s disease (AD). Design, Setting, and Participants: Eighty-six 21-hydroxylase autoantibody-positive, nonautoimmune polyendocrine syndrome type 1, Caucasian individuals collected from 1992 to 2009 with clinical AD from 68 families (12 multiplex and 56 simplex) were genotyped for HLA-DRB1, HLA-DQB1, MICA, HLA-B, and HLA-A as well as high density MHC single-nucleotide polymorphism (SNP) analysis for 34. Main Outcome Measures: AD and genotype were measured. Result: Ninety-seven percent of the multiplex individuals had both HLA-DR3 and HLA-B8 vs. 60% of simplex AD patients (P = 9.72 × 10−4) and 13% of general population controls (P = 3.00 × 10−19). The genotype DR3/DR4 with B8 was present in 85% of AD multiplex patients, 24% of simplex patients, and 1.5% of control individuals (P = 4.92 × 10−191). The DR3-B8 haplotype of AD patients had HLA-A1 less often (47%) than controls (81%, P = 7.00 × 10−5) and type 1 diabetes patients (73%, P = 1.93 × 10−3). Analysis of 1228 SNPs across the MHC for individuals with AD revealed a shorter conserved haplotype (3.8) with the loss of the extended conserved 3.8.1 haplotype approximately halfway between HLA-B and HLA-A. Conclusion: Extreme risk for AD, especially in multiplex families, is associated with haplotypic DR3 variants, in particular a portion (3.8) but not all of the conserved 3.8.1 haplotype. PMID:20631027

In Vivo Characterization of Human APOA5 Haplotypes

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Ahituv, Nadav; Akiyama, Jennifer; Chapman-Helleboid, Audrey; Fruchart, Jamila; Pennacchio, Len A.

2006-10-01

Increased plasma triglycerides concentrations are an independent risk factor for cardiovascular disease. Numerous studies support a reproducible genetic association between two minor haplotypes in the human apolipoprotein A5 gene (APOA5) and increased plasma triglyceride concentrations. We thus sought to investigate the effect of these minor haplotypes (APOA5*2 and APOA5*3) on ApoAV plasma levels through the precise insertion of single-copy intact APOA5 haplotypes at a targeted location in the mouse genome. While we found no difference in the amount of human plasma ApoAV in mice containing the common APOA5*1 and minor APOA5*2 haplotype, the introduction of the single APOA5*3 defining allele (19W) resulted in 3-fold lower ApoAV plasma levels consistent with existing genetic association studies. These results indicate that S19W polymorphism is likely to be functional and explain the strong association of this variant with plasma triglycerides supporting the value of sensitive in vivo assays to define the functional nature of human haplotypes.

Longitudinal Trajectories of Health Related Quality of Life in Danish Family Members of Individuals with Severe Brain Injury

DEFF Research Database (Denmark)

Norup, Anne; Snipes, Daniel J.; Siert, Lars

2013-01-01

– Emotional scores were higher when patients had high Rancho Los Amigos Scale scores at admission to early intensive rehabilitation in hospital. These results suggest that the acute and sub-acute periods after brain injury are an extremely difficult time psychologically for many families, and family......Scant research has examined health-related quality of life (HRQoL) in family members of patients with severe brain injury, even less has been done in Scandinavian countries, and none has examined this construct longitudinally. The current study therefore used multilevel modelling to investigate...... the trajectories of HRQoL in 94 Danish family members of patients with severe brain injury at five time points, beginning at the patient's stay in a neuro intensive care unit through one year after injury. The family members’ HRQoL scores significantly and strongly increased over time, and Role Limitations...

Stress regulated members of the plant organic cation transporter family are localized to the vacuolar membrane

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Koch Wolfgang

2008-07-01

Full Text Available Abstract Background In Arabidopsis six genes group into the gene family of the organic cation transporters (OCTs. In animals the members of the OCT-family are mostly characterized as polyspecific transporters involved in the homeostasis of solutes, the transport of monoamine neurotransmitters and the transport of choline and carnitine. In plants little is known about function, localisation and regulation of this gene family. Only one protein has been characterized as a carnitine transporter at the plasma membrane so far. Findings We localized the five uncharacterized members of the Arabidopsis OCT family, designated OCT2-OCT6, via GFP fusions and protoplast transformation to the tonoplast. Expression analysis with RNA Gel Blots showed a distinct, organ-specific expression pattern of the individual genes. With reporter gene fusion of four members we analyzed the tissue specific distribution of OCT2, 3, 4, and 6. In experiments with salt, drought and cold stress, we could show that AtOCT4, 5 and 6 are up-regulated during drought stress, AtOCT3 and 5 during cold stress and AtOCT 5 and 6 during salt stress treatments. Conclusion Localisation of the proteins at the tonoplast and regulation of the gene expression under stress conditions suggests a specific role for the transporters in plant adaptation to environmental stress.

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

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Ullah, Inayat; Kabir, Firoz; Iqbal, Muhammad; Gottsch, Clare Brooks S.; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Khan, Shaheen N.; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J. Fielding

2016-01-01

Purpose To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. Methods Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon–intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect. Results The ophthalmic examinations of the affected individuals in these familial cases were suggestive of RP. Exclusion analyses confirmed linkage to chromosome 6p harboring TULP1 with positive two-point LOD scores. Subsequent Sanger sequencing identified the single base pair substitution in exon14, c.1466A>G (p.K489R), in four families. Additionally, we identified a two-base deletion in exon 4, c.286_287delGA (p.E96Gfs77*); a homozygous splice site variant in intron 14, c.1495+4A>C; and a novel missense variation in exon 15, c.1561C>T (p.P521S). All mutations segregated with the disease phenotype in the respective families and were absent in ethnically matched control chromosomes. Haplotype analysis suggested (p<10−6) that affected individuals inherited the causal mutation from a common ancestor. Conclusions Pathogenic mutations in TULP1 are responsible for the RP phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families. PMID:27440997

Patient accuracy of reporting on hereditary non-polyposis colorectal cancer-related malignancy in family members

DEFF Research Database (Denmark)

Katballe, Niels; Juul, Svend; Christensen, M.

2001-01-01

was rejected in three of 14 cases (false-positive rate 21 per cent). Furthermore, seven of 18 probands whose families met the Amsterdam criteria I or II after verification were identified by further exploration in families who, according to the probands, met weaker criteria (false-negative rate 39 per cent......). CONCLUSION: The present study suggests that family studies on HNPCC are not reliable unless the diagnoses of family members are verified from official sources. If endoscopic screening is offered entirely on the basis of unverified information from patients with colorectal cancer, there is a risk that a large...

The effectiveness of cognitive behavioral stress management training on mental health, social interaction and family function in adolescents of families with one Human Immunodeficiency Virus (HIV) positive member.

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Keypour, Maryam; Arman, Soroor; Maracy, Mohammad Reza

2011-06-01

This study evaluated stress management training to improve mental health, social interaction and family function among adolescents of families with one Human Immunodeficiency Virus (HIV) positive member. There were 34 adolescents (13-18 years old) with at least one family member living with HIV from whom finally 15 attended the study and participated in 8 weekly sessions of stress management training. The tests used in this study were: Strengths and Difficulties Questionnaire (self and parent report), General Health Questionnare-28 (GHQ-28) and Family Assessment Device (FAD), conducted before, after and three months after the intervention. The collected data were analyzed by repeated measure test using SPSS software (Version 18.0). Adolescents with one HIV positive family member showed high level of emotional problem (40%) and conduct problem (33.3%). There was a significant difference between before, after and 3months after intervention based on GHQ-28 mean scores and FAD mean sores (p social behavior based on SDQ (self report and parents report forms) in all three stages (before, after and three months after intervention). Stress management training is effective in improving mental health, family function and social interaction among adolescents living with parents infected with HIV/AIDS.

What are the physical and psychological health effects of suicide bereavement on family members? Protocol for an observational and interview mixed-methods study in Ireland.

LENUS (Irish Health Repository)

Spillane, Ailbhe

2017-03-30

Research indicates that experiencing the suicide of a relative can have a significant impact on family members\\' emotional health. However, research incorporating the impact of suicide bereavement on family members\\' physical health is sparse. This paper details the protocol for a mixed-methods study of suicide-bereaved family members. The study will primarily examine the physical and mental health needs of those bereaved by suicide. A secondary objective of the study is to describe the support service needs of family members bereaved by suicide.

Proposed regulations could limit access to affordable health coverage for workers' children and family members.

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Jacobs, Ken; Graham-Squire, Dave; Roby, Dylan H; Kominski, Gerald F; Kinane, Christina M; Needleman, Jack; Watson, Greg; Gans, Daphna

2011-12-01

Key Findings. The Patient Protection and Affordable Care Act (ACA) is designed to offer premium subsidies to help eligible individuals and their families purchase insurance coverage when affordable job-based coverage is not available. However, the law is unclear on how this affordability protection is applied in those instances where self-only coverage offered by an employer is affordable but family coverage is not. Regulations recently proposed by the Department of the Treasury would make family members ineligible for subsidized coverage in the exchange if an employee is offered affordable self-only coverage by an employer, even if family coverage is unaffordable. This could have significant financial consequences for low- and moderate-income families that fall in this gap. Using an alternative interpretation of the law could allow the entire family to enter the exchange when family coverage is unaffordable, which would broaden access to coverage. However, this option has been cited as cost prohibitive. In this brief we consider a middle ground alternative that would base eligibility for the individual worker on the cost of self-only coverage, but would use the additional cost to the employee for family coverage as the basis for determining affordability and eligibility for subsidies for the remaining family members. We find that: Under the middle ground alternative scenario an additional 144,000 Californians would qualify for and use premium subsidies in the California Health Benefit Exchange, half of whom are children. Less than 1 percent of those with employer-based coverage would move to subsidized coverage in the California Health Benefit Exchange as a result of having unaffordable coverage on the job.

Development and evaluation of brochures for fall prevention education created to empower nursing home residents and family members.

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Schoberer, Daniela; Eglseer, Doris; Halfens, Ruud J G; Lohrmann, Christa

2018-06-01

In this study, we describe the development of evidence- and theory-based fall prevention educational material and its evaluation from the users' perspectives. To reduce risk factors for falling in nursing homes, nursing staff must enact multifactorial fall prevention intervention programmes. A core component of these programmes is to educate residents and their family members, both verbally and in a written form. However, users can only benefit from educational material if it is based on current scientific evidence, easy to understand and process and customised. We followed a structured procedure during the development process, while considering various aspect of quality. To assess the understandability and usefulness of the resulting educational materials, we conducted a qualitative content analysis study. The educational materials development process incorporated several iterative steps including a systematic literature search and the application of frameworks for designing and writing the materials. To evaluate the material, we performed six focus group discussions separately with residents, family members and nursing staff from two nursing homes (total of 32 participants). Residents' brochures included clear information on avoiding external risks as well as coping strategies after a fall event. Family members' brochures were more comprehensive, including both concrete tips and outlining the advantages and disadvantages of interventions. Residents and family members had no difficulties understanding the material and tried to apply the content to their individual situations. Nursing staff commented on some ambiguities and incongruities relating to current nursing care practice. By involving users in the development of evidence-based educational materials, nursing staff can achieve a high acceptance rate for the materials and motivate users to address the topic. The involvement of users is essential for developing educational material that meets users' needs

Effects of the number of markers per haplotype and clustering of haplotypes on the accuracy of QTL mapping and prediction of genomic breeding values

NARCIS (Netherlands)

Calus, M.P.L.; Meuwissen, T.H.E.; Windig, J.J.; Knol, E.F.; Schrooten, C.; Vereijken, A.L.J.; Veerkamp, R.F.

2009-01-01

The aim of this paper was to compare the effect of haplotype definition on the precision of QTL-mapping and on the accuracy of predicted genomic breeding values. In a multiple QTL model using identity-by-descent (IBD) probabilities between haplotypes, various haplotype definitions were tested i.e.

The effect of family member migration on education and work among nonmigrant youth in Mexico.

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Halpern-Manners, Andrew

2011-02-01

While academic and policy circles have given much attention to the assimilatory experiences of Mexican immigrants in the United States, less is known about those who stay behind-an especially unfortunate oversight given the increasing number of Mexican youth with migrant family members. Of the studies on this topic, most have sought to identify the effect that migration has on youths' migratory and educational aspirations, often using qualitative methods in individual sending communities. The present article supplements this research in two ways: (1) in addition to assessing educational outcomes, the scope of the analysis is expanded to include nonmigrant' interaction with another homeland institution of upward mobility: the labor market; and (2) using a large demographic data set, statistical techniques are employed to adjust for unobserved selectivity into the migrant family-member population, thus accounting for a potentially serious source of bias. The results suggest that youth in migrant-sending families are less likely to complete the educational transitions leading up to postsecondary school and have a lower probability of participating in the local economy. The results also indicate that unobserved factors play a "nonignorable" role in sorting youth into migrant and nonmigrant families.

A practical guideline for the release of patients treated by I-131 based on Monte Carlo dose calculations for family members

International Nuclear Information System (INIS)

Han, Eun Young; Lee, Choonsik; Mcguire, Lynn; Bolch, Wesley E

2014-01-01

We recently published effective doses per time-integrated activity (mSv MBq −1  s −1 ) for paediatric and adult family members exposed to an adult patient released from hospital following I-131 therapy. In the present study, we intend to provide medical physicists with a methodology to estimate family member effective dose in daily clinical practice because the duration of post-radiation precautions for the patient–family member exposure scenario has not been explicitly delineated based on the effective dose. Four different exposure scenarios are considered in this study including (1) a patient and a family member standing face to face, (2) a patient and a family member lying side by side, (3) an adult female patient holding a newborn child to her chest and (4) a one-year-old child standing on the lap of an adult female patient following her I-131 therapy. The results of this study suggest that an adult female hyperthyroidism (HT) patient who was administered with 740 MBq should keep a distance of 100 cm from a 15-year-old child for six days and the same distance from other adults for seven days. The HT female patient should avoid holding a newborn against her chest for at least 16 days following hospital discharge, and a female patient treated with 5550 MBq for differentiated thyroid cancer should not hold her newborn child for at least 15 days following hospital discharge. This study also gives dose coefficients allowing one to predict age-specific effective doses to family members given the measured dose rate (mSv h −1 ) of the patient. In conclusion, effective dose-based patient release criteria with a modified NRC two-component model provide a site medical physicist with less restrictive and age-specific radiation precaution guidance as they fully consider a patient’s iodine biokinetics and photon attenuation within both the patient and the exposed family members. (note)

ATAR, a novel tumor necrosis factor receptor family member, signals through TRAF2 and TRAF5.

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Hsu, H; Solovyev, I; Colombero, A; Elliott, R; Kelley, M; Boyle, W J

1997-05-23

Members of tumor necrosis factor receptor (TNFR) family signal largely through interactions with death domain proteins and TRAF proteins. Here we report the identification of a novel TNFR family member ATAR. Human and mouse ATAR contain 283 and 276 amino acids, respectively, making them the shortest known members of the TNFR superfamily. The receptor is expressed mainly in spleen, thymus, bone marrow, lung, and small intestine. The intracellular domains of human and mouse ATAR share only 25% identity, yet both interact with TRAF5 and TRAF2. This TRAF interaction domain resides at the C-terminal 20 amino acids. Like most other TRAF-interacting receptors, overexpression of ATAR activates the transcription factor NF-kappaB. Co-expression of ATAR with TRAF5, but not TRAF2, results in synergistic activation of NF-kappaB, suggesting potentially different roles for TRAF2 and TRAF5 in post-receptor signaling.

Members of the Dof transcription factor family in Triticum aestivum are associated with light-mediated gene regulation.

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Shaw, Lindsay M; McIntyre, C Lynne; Gresshoff, Peter M; Xue, Gang-Ping

2009-11-01

DNA binding with One Finger (Dof) protein is a plant-specific transcription factor implicated in the regulation of many important plant-specific processes, including photosynthesis and carbohydrate metabolism. This study has identified 31 Dof genes (TaDof) in bread wheat through extensive analysis of current nucleotide databases. Phylogenetic analysis suggests that the TaDof family can be divided into four clades. Expression analysis of the TaDof family across all major organs using quantitative RT-PCR and searches of the wheat genome array database revealed that the majority of TaDof members were predominately expressed in vegetative organs. A large number of TaDof members were down-regulated by drought and/or were responsive to the light and dark cycle. Further expression analysis revealed that light up-regulated TaDof members were highly correlated in expression with a number of genes that are involved in photosynthesis or sucrose transport. These data suggest that the TaDof family may have an important role in light-mediated gene regulation, including involvement in the photosynthetic process.

Association of serotonin receptor 2a haplotypes with obsessive–compulsive disorder and its treatment response in Iranian patients: a genetic and pharmacogenetic study

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Sina, Marzie; Ahmadiani, Abolhassan; Asadi, Sareh; Shams, Jamal

2018-01-01

Introduction Obsessive–compulsive disorder (OCD) is a debilitating psychiatric disorder causing intrusive thoughts or repetitive behaviors. Serotonin reuptake inhibitors are used for OCD treatment, but 40%–60% of patients do not respond to them adequately. In this study, the associations of serotonin receptor 2a polymorphisms rs6311 and rs6313 with OCD, its familial form and fluvoxamine treatment response in Iranian population were investigated. Patients and methods Association analyses were conducted in 293 OCD cases fulfilling the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR and 245 controls. Pharmacotherapy was defined as 12 weeks of treatment with fluvoxamine (150–300 mg). Treatment response was considered as >25% reduction in Yale–Brown Obsessive Compulsive Scale score. Genotyping was performed by means of PCR-RFLP. Results The results showed no association of rs6311 or rs6313 with OCD, but their haplotypes had different distribution patterns in cases and controls. Moreover, rs6313 was associated with the familial form of OCD in females significantly (P=0.005) under the recessive genetic model. Moreover, rs6311–rs6313 haplotypes were associated with fluvoxamine treatment response in OCD patients with more AC and less AT in responders. Conclusion HTR2A haplotypes are associated with OCD and its treatment response with a fluvoxamine in Iranian patients. Furthermore, the observed association of rs6313 with the familial form of OCD in females suggests different genetic background of OCD familial and non-familial forms, which needs further investigation. PMID:29785111

Relationship between the number of family members and stress by gender: Cross-sectional analysis of the fifth Korea National Health and Nutrition Examination Survey.

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Noh, Jin-Won; Kim, Kyoung-Beom; Park, Jumin; Hong, Janghun; Kwon, Young Dae

2017-01-01

Due to gendered inequalities in the division of domestic work, women with paid employment and family caregiving responsibilities can feel extremely tired with general distress and depression. Therefore, the purpose of this study was to examine the association between the number of family members and stress level by gender among Korean adults using a nationally representative dataset. We used a sample of 6,293 subjects aged 19 or older (3,629 female and 2,264 male) from the fifth Korea National Health and Nutrition Examination Survey. A multivariable logistic regression analysis with sociodemographic and health-related characteristics was conducted. Because there were gender differences, a stratified analysis was performed for each gender. Age, number of family members, education level, occupational status, depression, self-rated health status, and chronic diseases were found to have a significant association with stress level in the study subjects (pstress increased among females from family with two members (OR 1.521), three family members (OR 1.893), or four or more family members without spouse (OR 2.035) compared to those who live alone. We found that unmarried women are more likely to be stressed as the number of family members increases. Gender expectations giving women the main responsibility for domestic and care work may become a source of stress. Reconciliation of family and work remains women's responsibility in Korea. As family problems are recently becoming a big issue, our study shows the importance of considering gender difference in studies on stress according to family roles and functions.

Patients' and their family members' experiences of participation in care following an acute exacerbation in chronic obstructive pulmonary disease

DEFF Research Database (Denmark)

Andersen, Ingrid Charlotte; Thomsen, Thora Grothe; Bruun, Poul

2017-01-01

, knowledge of the significance of patient and family participation for recovery and subsequent everyday life is still limited. DESIGN: This study adopted a longitudinal design informed by ethnographic fieldwork principles. METHODS: Participant observations and interviews with 15 patients and 12 family......AIM AND OBJECTIVES: To explore the experiences of patients with chronic obstructive pulmonary disease (COPD) and their family members relating to both participation in care during hospitalization for an acute exacerbation in COPD, and to the subsequent day-to-day care at home. BACKGROUND: When...... recovering from an exacerbation, the challenges associated with an unpredictable health condition dominate everyday life for patients and can involve their family members. Proper patient and family participation in care during discharge and follow-up can help patients to improve self-management. However...

ROLE OF ATP BINDING CASSETTE SUB-FAMILY MEMBER 2 (ABCG2) IN MOUSE EMBRYONIC STEM CELL DEVELOPMENT.

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ATP binding cassette sub-family member 2 (ABCG2), is a member of the ABC transporter superfamily and a principal xenobiotic transporter. ABCG2 is also highly expressed in certain stem cell populations where it is thought to be related to stem cell plasticity, although the role o...

Evaluation of the effect of various parameters on the amount of radiation dose received by family members after 131-I therapy

International Nuclear Information System (INIS)

Sarkar, S.; Dehghanpour, M.; Saghari, M.; Ghiasinezhad, M.

2001-01-01

The main concern with respect to discharge of patients from hospital after 131-I therapy is contamination of their surroundings and exposure of people who are in close contact with them. In this study, we evaluated absorbed dose received by home mates of these patients within one week of discharge from hospital. This study was based on 100 patients (23 patients with thyroid cancer together with 70 members of their families and 2 hyperthyroid patients plus 5 of their family members). Measurements were performed by TLD. Patients were discharged from hospital if the dose rate from a meter distance of their thyroid was below 20 μSv/hr (ICRP-60). The hospitalization period for those patients with thyroid cancer varied between 2-3 days (depending on the amount of radioactivity received). Hyperthyroid patients were treated as outpatients. Our data indicate that although hyperthyroid patients received much less activity in comparison to those with thyroid cancer, but due to the slow iodine discharge rate from their bodies, they radiated more to their surroundings. For patients with thyroid cancer, when the given activity increased from 100 mCi to 150 mCi, the average dose absorbed by their family members increased by a factor of 3. The duration of hospitalization as well as the amount of activity given to the patients have a significant effect on the amount of radiation dose received by the family members. In a group of patients who received 100 mCi of 131-I, the average radiation dose received by the family members of those patients who were hospitalized for 2 days were 1.5 times more than of those patients who were hospitalized for 3 days, whereas following therapy with 150 mCi of 131-Iodine, the average radiation dose received by the family members of those patients who were hospitalized for 2 days were about 6.5 times more than that of those who were hospitalized for 3 days. The size of the patient's house and the time that family spends with the patient at house are

Patients' and their family members' experiences of participation in care following an acute exacerbation in chronic obstructive pulmonary disease: A phenomenological-hermeneutic study.

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Andersen, Ingrid Charlotte; Thomsen, Thora Grothe; Bruun, Poul; Bødtger, Uffe; Hounsgaard, Lise

2017-12-01

To explore the experiences of patients with chronic obstructive pulmonary disease and their family members relating both to participation in care during hospitalisation for an acute exacerbation in chronic obstructive pulmonary disease, and to the subsequent day-to-day care at home. When recovering from an exacerbation, the challenges associated with an unpredictable health condition dominate everyday life for patients and can involve their family members. Proper patient and family participation in care during discharge and follow-up can help patients to improve self-management. However, knowledge of the significance of patient and family participation for recovery and subsequent everyday life is still limited. This study adopted a longitudinal design informed by ethnographic fieldwork principles. Participant observations and interviews with 15 patients and 12 family members were conducted on a Danish hospital ward and twice at the participants' homes. A phenomenological-hermeneutic approach inspired by Ricoeur's theory of interpretation guided the data analysis. Participation in care was perceived as valuable, but could be associated with tensions and increased uncertainty. While patients mostly demonstrated a reactive approach to care, family members strived to be more proactive. In hospital, preparing for discharge included an effort to find a balance between powerlessness and influence during interactions with healthcare professionals. At home, managing further recovery and self-management were characterised by navigating between mutual pressure and consideration within the family. Family members play an important role in ensuring that patients are seen, heard and understood, but want to be acknowledged more by healthcare professionals. Appropriate interactions with healthcare professionals are crucial in order to support discharge and daily self-management. Knowledge of the challenges that patients with chronic obstructive pulmonary disease and their family

The Prevalence of Pediculosis Capitis and Factors Related to The Treatment Success in Primary School Children and Their Family Members in Kocaeli

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Aysun Sikar Akturk

2012-04-01

Full Text Available Objective: The aim of the presented study was determine the prevalence of Pediculosis capitis and factors related to the treatment success in a public primary school situated in an area having a low socio-economic status in the city of Kocaeli. Materials and Methods: A total of 414 students attending at the first grade of a public primary school in Kocaeli and 267 family members of the students with head lice and/or nits were screened. Students and their family members were examined by visual inspection and dermoscopic examination whether they had head lice and/or nits. The data were collected about some socio demographic characteristics of children’ and those of their family members with active Pediculosis capitis and shampoos with 1% permethrin was used to get rid of Pediculosis capitis. After two weeks, people who had received treatment were re-examined and factors related to the successful treatment were evaluated. Results: The prevalence of pediculosis capitis was 14.3% in school children and 13% in their family members. The prevalence was statistically significant with education levels of the mothers and fathers, social security of family and by gender. The treatment was successful in 38 of school children (66%, and in 10 of their family members (29% with pediculosis capitis. The success of the treatment was no statistically significant in gender, education level of the mothers and fathers, having social security and income. It was noticed that successful treatment was correlated with proper use of the shampoo and proper mechanical cleaning. Conclusions: Head lice is a public health problem that concerns both the school children and their family members. School children who were infested with Pediculosis capitis and their families should be periodically screened and should be immediately and simultaneously treated to preventing reinfestation. [TAF Prev Med Bull 2012; 11(2.000: 181-190

Survival in common cancers defined by risk and survival of family members

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Jianguang Ji

2011-10-01