Living Family Members Research Articles

‘Making vulnerability’ while negotiating family care practices: evidence from multigenerational living

ABSTRACT The article draws upon in-depth interviews conducted in Czech multigenerational living with representatives of three generations. The repeated interviews took place in 2018–2019 and then in spring 2020 during the Covid-19 pandemic. The analysis focused on caring practices and dynamics of care between three generations and how these had been impacted by pandemic in 2020. We were interested in how the pandemic affected the daily lives of multigenerationally living family members and how through their caring practices they redefine what family in the era of super-diversity is. In order to do so, we particularly focus on how vulnerability has been constructed through the caring practices as a response to Covid-19. We followed the scholarship on vulnerability which emphasises its social character and sees it as a social construct. We put forward this discussion and aim at developing the concept of ‘making vulnerability’ – processes through which people make themselves and others vulnerable through daily taken-for-granted routines and rituals – as an essential part of family care practices.

Hereditary chronic neutrophilic leukemia in a four-generation family without transformation to acute leukemia.

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) characterized by peripheral blood neutrophilia, marrow granulocyte hyperplasia, hepatosplenomegaly, and driver mutations in the colony-stimulating factor 3 receptor (CSF3R). Designation of activating CSF3R mutations as a defining genomic abnormality for CNL has led to increased recognition of the disease. However, the natural history of CNL remains poorly understood with most patients reported being of older age, lacking germline data, and having poor survival, in part due to transformation to acute leukemia. CSF3R driver mutations in most patients with CNL have been reported to be acquired, although rare cases of germline mutations have been described. Here, we report the largest pedigree to date with familial CNL, spanning four generations with affected family members ranging in age from 4 to 53 years, none of whom have transformed to acute leukemia. A heterozygous T618I CSF3R mutation was identified in peripheral blood and mesenchymal stromal cells from the proband and in all affected living family members, while the unaffected family members tested were homozygous wild type. We show that the T618I mutation also confers a survival advantage to neutrophils in an MCL1-dependent manner. Collectively, these data provide additional insights into the natural history of familial CNL arising from T618I CSF3R mutations and suggest that enhanced neutrophil survival also contributes to the high neutrophil count observed in patients with CNL.

Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.

Cholesterol ester storage disorder (CESD; OMIM: 278,000) was formerly assumed to be an autosomal recessive allelic genetic condition connected to diminished lysosomal acid lipase (LAL) activity due to LIPA gene abnormalities. CESD is characterized by abnormal liver function and lipid metabolism, and in severe cases, liver failure can occur leading to death. In this study, one Chinese nonclassical CESD pedigree with dominant inheritance was phenotyped and analyzed for the corresponding gene alterations. Seven males and eight females from nonclassical CESD pedigree were recruited. Clinical features and LAL activities were documented. Whole genome Next-generation sequencing(NGS) was used to screen candidate genes and mutations, Sanger sequencing confirmed predicted mutations, and qPCR detected LIPA mRNA expression. Eight individuals of the pedigree were speculatively thought to have CESD. LAL activity was discovered to be lowered in four living members of the pedigree, but undetectable in the other four deceased members who died of probable hepatic failure. Three of the four living relatives had abnormal lipid metabolism and all four had liver dysfunctions. By liver biopsy, the proband exhibited diffuse vesicular fatty changes in noticeably enlarged hepatocytes and Kupffer cell hyperplasia. Surprisingly, only a newly discovered heterozygous mutation, c.1133T>C (p. Ile378Thr) on LIPA, was found by gene sequencing in the proband. All living family members who carried the p.I378T variant displayed reduced LAL activity. Phenotypic analyses indicate that this may be an autosomal dominant nonclassical CESD pedigree with a LIPA gene mutation.

Reported Cases of Reincarnation and Social Construction – Understanding Past Life Claims through Socio Cultural Perspectives

This paper tried to look for factors responsible for repeated past life claims among children. This paper also tried to understand social function of the phenomena of reincarnation and its contribution towards a particular community. Interviews are conducted with six subjects and both their present family members and past life family members are also interviewed. Children started claiming previous life between three to five years of age. All of them showed dissociative tendencies which encouraged the parents look for past life of their child. Apart from that, it was found that child, parents, their families and community took an active role in this whole process. Religious and cultural belief also act as a catalyst in this process. It was also found that reincarnation is serving societal needs and acting as a therapeutic resource for those members who lost their near ones in tragic incident.

A highly penetrant ACTA2 mutation of thoracic aortic disease

BackgroundThe role of ACTA2 mutations in Familial Aortic Disease has been increasingly recognized. We describe a highly penetrant variant (R118Q) in a family with aortic disease.Case reportA patient presented to us for elective repair of an ascending aortic aneurysm with a family history of his mother expiring after aortic dissection. Genetic testing revealed he was a heterozygous carrier of the ACTA2 missense mutation R118Q. Subsequently, all living family members were tested for this variant and a full medical history was obtained to compile a family tree for the variant and penetrance of an aortic event (defined as lifetime occurrence of aortic surgery / dissection). In total 9 family members were identified and underwent genetic testing with 7/9 showing presence of the ACTA2 R118Q mutation or an aortic event. All patients over the age of 50 (n = 4) had an aortic event. Those events occurred at ages 54, 55, 60, and 62 (mean event at 57.8 ± 3.9 years). Three family members with the variant under the age of 40 have not had an aortic event and most are undergoing regular aortic surveillance via CT scan.ConclusionsExisting studies of known ACTA2 mutations describe a 76% aortic event rate by 85 years old. The R118Q missense mutation is a less common ACTA2 variant, estimated to be found in about 5% of patients with known mutations. Prior studies have predicted the R118Q mutation to have a slightly decreased risk of aortic events compared to other ACTA2 mutations. In this family, however, we demonstrate 100% penetrance of aortic disease above age 50. In today’s era of excellent outcomes in elective aortic surgery, our team aggressively offers elective repair. We advocate for strict aortic surveillance for patients with this variant and would consider elective aortic replacement at 4.5 cm, or at an even smaller diameter in patients with a strong family history of dissection who are identified with this mutation.

반려동물과의 상호작용이 반려인의 자아존중감과 주관적 행복감에 미치는 영향에 관한 연구

As a social phenomenon in modern society, companion animals are gradually recognized as life partners or family members due to single-person households, low birth rates, and aging.In particular, due to structural changes in the family, there are fewer opportunities for communication and more people feel isolated or alienated. Therefore, this study attempts to verify the relationship between the effect of interaction with companion animals on self-esteem and subjective happiness. To this end, research hypotheses and surveys were developed based on literature research, and a total of 200 copies of data were collected and statistically analyzed to verify the hypothesis. As a result of the study, first, it was found that there was a correlation between interaction, self-esteem, and subjective happiness. Second, interaction and self-esteem were found to have a positive effect. Third, it was found that interaction had a positive effect on subjective happiness Fourth, it was found that self-esteem had a positive effect on subjective happiness. Finally, interaction has a significant effect on subjective happiness by mediating self-esteem. Through this study, the significance of this study was that the direction for the friendliness of raising companion animals was suggested by confirming the importance of the effect of interaction with companion animals on their self-esteem and subjective happiness. This will provide basic data on the importance of companion animal interaction as well as the importance of companion role in the life of companion animals, and the raising of desirable companion animals can increase human overall development and subjective happiness.

Communications Through Contemporary Tools of Information and Communication Technology: Cross-sectional Study Evaluating Health Among Separated Family Members.

BackgroundThe number of single-living workers separated from their spouses and families has been increasing due to the need to create a balance between life and work. Workers are assigned everywhere in globalized workplaces while also caring for their family members in the context of Japan’s aging society. At the same time, the mental and health status of persons living separately from their families is a matter of concern. The development of interpersonal communication means using information and communications technology (ICT) tools and the internet is remarkable, enabling simultaneous 2-way communication across distances and national borders. The easy accessibility to simultaneous communication is expected to improve the psychosocial status of isolated family members.ObjectiveThis study aims to clarify the health benefits of ICT by using a psychosocial health assessment, the characteristics of ICT tools, and the frequency of communication among the workers and their families who live separately.MethodsThis was a cross-sectional study planned and conducted in Japan. Study participants, including adults who live separately from other family members or have separately living family members due to work, were recruited to answer a web response survey about ICT usage status, health status, and life and society evaluation. This study recruited 73 participants divided into 2 groups by their communication tools and frequencies, and their separated life, health, and psychosocial status were statistically compared.ResultsAmong the 73 study participants, 15 were categorized in the high communication–skilled (HCS) group that used both types of ICT tools to communicate frequently: “live,” such as video chat and voice call, and “nonlive,” such as SMS text message service and email. A simple comparison between the HCS and reference groups showed significant differences in the cohesion with the neighborhood (P=.03), perceived social position (P=.01), and happiness (P<.001); however, there were no significant differences in the health (psychological distress, P=.08; self-rated health, P=.07), lifestyle (drinking, P>.99; current smoking, P=.37), and dyadic trust in family members living separately (P=.80). Further, in a multivariate regression analysis adjusted for confounding factors, such as educational history, age, gender, and job status, poor subjective health showed a prevalence odds ratio of less than 1 (OR 0.17, 95% CI 0.03-1.02). The HCS group showed significant positive relationships in the cohesion score with the neighborhood (P=.01; β=2.40, 95% CI 0.56-4.24), perceived social position (P=.03; β=1.17, 95% CI 0.11-2.23), and happiness score (P=.002; β=1.46, 95% CI 0.58-2.34) in the same multivariate regression models.ConclusionsThis study suggested that people who frequently communicate with separated family members by taking advantage of various ICT tools can maintain a better mental state and better social relations among those who live alone and are separated from their families.

Cross-sectional clinical cancer genomics community of practice survey analysis of provider attitudes and beliefs regarding the use of deceased family member tissue to guide living family member genetic cancer risk assessment.

Next-generation tumor tissue sequencing techniques may result in the detection of putative germline pathogenic variants (PVs), raising the possibility that germline cancer predisposition could be identified from archival medical tissue samples of deceased relatives. The approach, termed traceback, is designed to inform risk management recommendations for living family members. Provider perspectives regarding traceback testing have not yet been explored, so we conducted a cross-sectional survey of Clinical Cancer Genomics Community of Practice providers regarding their attitudes and beliefs toward traceback testing. Self-reported demographics, provider characteristics, attitudes and perceived barriers were collected. We evaluated responses in the context of whether providers had previous experience with traceback testing. Data were analyzed using chi-square and Fisher's exact testing. Among 207 respondents (of 816 eligible), most were women (89.4%), white (85.5%), and not Hispanic or Latino (89.7%). US-based providers represented the majority of respondents (87.4%). Relatively, few providers 32 of 207 (15.5%) had previous experience with traceback. Among the individuals without experience in traceback, 84.0% thought there would be barriers to implementation; however, only 68.8% of individuals with previous traceback experience agreed (p=.04). Respondents in both groups thought that traceback would be valuable in their practice (82.6%, p=.22) and that they would feel comfortable discussing the concept (83.6%, p=.83), interpreting the results (72.2%, p=.24), and discussing the results with their patients (80.7%, p=.38). Patient interest and cost were seen as less of a barrier by those with experience with traceback testing. Recurrent themes obtained in open-ended responses are also presented. Overall, providers believe that traceback would be a valuable tool in their practice. Individuals with previous experience identified less barriers with implementation of this testing, highlighting an area for future research and education.

Screening extended families for identification of β-thalassemia carriers: an experience from north Maharashtra region

Background: Beta thalassemias are group of autosomal recessive disorders of hemoglobin synthesis affecting many people worldwide. The study was undertaken to identify carriers of β-thalassemia through extended family screening in communities with high preference of consanguineous marriage.Methods: Ninety families consisting of 130 index cases (β-thalassemia major) with 3466 living family members were approached for testing, of these 1702 were tested. All carriers and couple at risk received counseling and followed for three years.Results: A total of 629 carriers were identified out of 1702 tested members. Of these 310 were married couples and 319 were unmarried. Of the 310 married couples 116 couples were at high risk for producing affected child as both the partners were carriers. There have been four new marriages and seven engagements. Of these no any new married couples were at risk but one engaged couple was at risk as both being a known carrier.Conclusions: Following index cases is reliable and feasible way to study the inherited hemoglobin disorder in high-risk communities and in communities with high preference of consanguineous marriages. High numbers of carriers and couples at risk were identified by screening a very small number of populations.

Impacts of Interaction of Mental Condition and Quality of Life between Donors and Recipients at Decision-Making of Preemptive and Post-Dialysis Living-Donor Kidney Transplantation.

Pre-emptive kidney transplantation (PEKT) is considered one of the most effective types of kidney replacement therapies to improve the quality of life (QOL) and physical prognosis of patients with end-stage renal disease (ESRD). In Japan, living-donor kidney transplantation is a common therapeutic option for patients undergoing dialyses (PDKT). Moreover, during shared decision-making in kidney replacement therapy, the medical staff of the multidisciplinary kidney team often provide educational consultation programmes according to the QOL and sociopsychological status of the ESRD patient. In Japan, the majority of kidney donations are provided by living family members. However, neither the psychosocial status of donors associated with the decision-making of kidney donations nor the interactions of the psychosocial status between donors and recipients have been clarified in the literature. In response to this gap, the present study determined the QOL, mood and anxiety status of donors and recipients at kidney transplantation decision-making between PEKT and PDKT. Deterioration of the recipient’s QOL associated with “role physical” shifted the decision-making to PEKT, whereas deterioration of QOL associated with “role emotional” and “social functioning” of the recipients shifted the decision-making to PDKT. Furthermore, increased tension/anxiety and depressive mood contributed to choosing PDKT, but increased confusion was dominantly observed in PEKT recipients. These direct impact factors for decision-making were secondarily regulated by the trait anxiety of the recipients. Unlike the recipients, the donors’ QOL associated with vitality contributed to choosing PDKT, whereas the physical and mental health of the donors shifted the decision-making to PEKT. Interestingly, we also detected the typical features of PEKT donors, who showed higher tolerability against the trait anxiety of reactive tension/anxiety than PDKT donors. These results suggest that choosing between either PEKT or PDKT is likely achieved through the proactive support of family members as candidate donors, rather than the recipients. Furthermore, PDKT is possibly facilitated by an enrichment of the life–work–family balance of the donors. Therefore, multidisciplinary kidney teams should be aware of the familial psychodynamics between patients with ESRD and their family members during the shared decision-making process by continuing the educational consultation programmes for the kidney-replacement-therapy decision-making process.

Lessons From Whakapapa and Filial Piety: Can Social Work Capitalize on the Connection That Survives Death?

Ageing is part of life, and so is death. Although death will involve all of us over time, it is often regarded as a taboo topic, and bonds with the dead are seldom acknowledged in contemporary times. The paper presents selected insights on the connection that survives death, learned from a qualitative study on two indigenous knowledges—whakapapa (genealogical connections in Maori) and filial piety (respect/care for ancestors). Data were collected from interviews with 49 key informants (Maori=25; Korean=24) in 2018/19 in New Zealand and South Korea. The research findings indicate that the connectedness with ancestors or deceased loved ones is a significant part of the participants’ mental and social lives. Māori (the first nation people of New Zealand) have established the unwritten convention of whakapapa as the core value that places whānau (family) at the centre of social relationships. In Korean culture, its filial piety/ancestor veneration tradition has emphasised the connection between deceased and living family members. Criticism about the traditions of whakapapa and filial piety was also raised by a few participants. The significance of this study is situated in the innovative perspective that the post-mortem relationship can be embodied, not only by the living who practise memorial respect for the dead, but also by those older people who establish after-life legacy before death. To help capitalise on this whakapapa connection, the so-called concept of “memorial social work” is presented as a potential area of social work practice, which has critical implications in the ageing/end-of-life related fields.

The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block

Abstract Background Atrial fibrillation (AF) is a common cardiac arrhythmia and is a major cause of ischemic stroke. It is a heritable disease, which is occasionally transmitted with an autosomal dominant pattern of inheritance. Methods We recruited a three-generation Lebanese kindred with five living family members affected by early onset familial AF (in early 30 years of age) with and without heart block and cardiomyopathy. Affected and unaffected family members underwent whole exome sequencing (WES). Two additional members of the family with undefined arrhythmias, heart block and pacemaker implantation had died from non-ischemic cardiomyopathy (NICM). Results A pathogenic mutation in the DES gene resulting in a serine to phenylalanine substitution at codon 13 in the Desmin protein segregated with early-onset AF. Four of the five patients had heart block and only two developed NICM later in life. Desmin, an intermediate filament protein, plays a pivotal role in the electromechanical functioning of cardiomyocytes and mutations in the DES gene have been implicated in skeletal myopathies, dilated cardiomyopathies and cardiac conduction disease. These mutations exhibit often incomplete penetrance and pleiotropic effects, but modifier genes that explain this behavior have not been identified. Analysis of WES data identified twelve shared variants predicted as damaging by both PolyPhen2 or SIFT software segregated with both early onset AF and heart block among DES mutation carriers. After filtering for known disease genes and genes not expressed in the heart, a rare novel non-conservative mutation in phosphodiesterase 4 D interacting protein (PDE4DIP) gene was identified that perfectly segregated with both heart block and AF. The mutation results in a non-conservative substitution of alanine at codon 123 for threonine. In-silico analysis predicted creation of a putative MAPK phosphorylation site. Functional in vitro characterization of the PDE4DIP p.A123T substitution showed increased cAMP levels by FRET sensor imaging in response to isoproterenol stimulation compared to wildtype transfected cells. cAMP mediates the catecholaminergic control of cardiac conduction and contractility. The PDE4DIP protein anchors PDE4D to the Golgi/centrosomal area in the sarcomeres of the myocardium and skeletal muscle and plays a critical role in subcellular partitioning of the cAMP signal and its dependent pathways. Surprisingly, there was decreased beta-adrenergic receptor phosphorylation in the mutant cells, suggesting reduced membrane PKA activity, possibly due to mislocalization of PDE4D. Inactivation of PDE4D has been linked to cardiomyopathy and arrhythmias including AF. Interestingly, genome-wide association studies have linked both PDE4D and PDE4DIP to ischemic stroke. Conclusion Our findings establish early onset AF as a presenting phenotype for DES mutations and identifies PDE4DIP as a modifier gene for its role in the development of conduction disease. Funding Acknowledgement Type of funding source: Public Institution(s). Main funding source(s): National Institutes of Health, USA

Abscission of Familial Bonding in Khaled Hosseini’s And the Mountains Echoed

Adoption is a beautiful thing in the world when it comes to giving life to abandon children. But as said often, “The only guarantee if a child is adopted is trauma,” the same adoption is so brutal when the child has been separated from the living family members and given for adoption. There is no worse pain than the pain of the children being separated from their birth family. This research throws light on abscission from the familial cohesion because of the critical situations in the family. Here, in this study, a young child is abscissed from her own family by adoption. The permanent separation from her biological parents creates the feeling of separation and longingness in the novel, And the Mountains Echoed, written by Khaled Hosseini. Pari, is theadopted child, and the protagonist of the novel was in her immature age when she had been separated from her family. The importance of familial relationships is shown very deeply in this novel through the plight of the protagonist, Pari. After the years of separation, the same child who became a mature woman gets reunited with her brother. But the traumatic experience that she had undergone can never be undone.

P0051NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE

Abstract Background and Aims Autosomal dominant PKD determines formation of multiple cysts predominantly in the kidneys and usually becomes symptomatic during adulthood and can lead to renal failure. In contrast, in autosomal recessive PKD cysts occur in both the kidneys and the liver and usually presents an earlier onset. Obtaining genetic diagnosis is important to confirm clinical diagnosis and is required before treating with vasopressin 2 receptor blockers, which are the only drugs known to slow down the disease. Furthermore, in the case of kidney transplant from a living family member it is essential to exclude the presence of the mutation in the donor. We used clinical exome sequencing to provide genetic diagnosis to a cohort of patients with a clinical suspicion of PKD. Method 175 patients were referred to the Immunogenetics and Transplant Biology Service of the Turin University Hospital through a network of nephrology centers operating in the Piedmont region. Some patients were referred following genetic counseling. All patients signed an informed consent and the referring physicians provided relevant clinical data. DNA from eligible patients was extracted, checked for integrity, quantified and used for library preparation. A clinical exome sequencing (CES) kit by Illumina was used, allowing the analysis of 6,700 clinically relevant genes. Results Out of the 175 recruited patients eligible for CES, 38 (21.7%) had a clinical suspicion or diagnosis of PKD, with 50% of them presenting family history. The majority of the cohort was represented by male subjects (60.5%) and included both children (34.2%) and adults. The analytical approach was based on initial analysis of genes responsible for PKD (PKD1, PKD2 and PKHD1). If no mutation could be identified, analysis was then extended to a panel of 99 genes responsible for ciliopathies. This approach led to the identification of causative variants in 33/38 (86.8%) of the PKD cohort, while no variant could be identified in 5/38 patients. In 5/33 (15.2%) patients, mutations were inconclusive as found in heterozygosity in genes known to have an autosomal recessive mode of inheritance, while 27/33 (81.8%) were in line with the initial clinical suspicion/diagnosis. Of these, the majority was represented by missense mutations (12), followed by frameshift and nonsense mutations (6 each) and 3 splicing variants. As expected, the majority of mutations were found in PKD1 17/27 (63%), PKD2 3/27 (11.1%) and PKHD1 2/27 (7.4%). In these two latter patients, variants were found as compound heterozygosity. We also found mutations in other genes known to cause cysts, including TSC2 and CPT2. Of note, in 7 patients carrying PKD1 mutations, we found a second variant in PKD1 or PKHD1. Interestingly, when looking at patients characterized by kidney failure but lacking a clinical suspicion at recruitment or diagnosed with other phenotypes (66/175), we found variants in PKD1 and in PKD2 in 11 patients (9 and 2, respectively). Of all identified variants in PKD1, PKD2 and PKHD1 genes, 17.6% were annotated as pathogenic (C5), 41.2% were likely pathogenic (C4) and 41.2% were variants of unknown significance (C3). 19 variants in these genes were not previously reported. All the variants found in genes responsible for PKD were validated and confirmed by Sanger sequencing. Family segregation studies are ongoing. Finally, it is worth mentioning that in a portion of cases (5/38) with clinical and phenotypic features of PKD, supported also by a positive family history, we could not detect mutations in causative genes. These results may be explained by the presence of intronic variants, in line with data reported in literature. Conclusion These results demonstrate that CES may be applied to PKD patients to identify causative variants during their routine diagnostic flow. Furthermore, CES may be a useful tool to detect mutations in PKD-related genes in patients with undiagnosed diseases, considering its rapidly decreasing costs.

TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35

ObjectiveTo investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pathogenic mutations in the gene TGM6.MethodsNeurologic assessment and brain MRI were performed to provide detailed description of the phenotype. Whole-exome sequencing and dynamic mutation analysis were performed to identify the genotype.ResultsThe proband, presenting with myoclonic epilepsy, cognitive decline, and ataxia, harbored both the TGM6 p.L517W variant and expanded CAG repeats in gene ATN1. Further analysis of the other living family members in this pedigree revealed that the CAG repeat number was expanded in all the patients and within normal range in all the unaffected family members. However, the TGM6 p.L517W variant was absent in 2 affected family members, but present in 3 healthy individuals.ConclusionsThe nonsegregation of the TGM6 variant with phenotype does not support this variant as the disease-causing gene in this pedigree, questioning the pathogenicity of TGM6 in SCA35.

The Development and Psychometric Validation of a Comprehensive Measure Assessing Fear of Incompetence among Adults Who Have a Family Member with Dementia.

Because the interpersonal skills of individuals with dementia often decline, family members may question their own ability to interact meaningfully. These family members may experience fear of incompetence (i.e., fear of being unable to relate in a meaningful way or take care of a close family member with dementia). Thus, the goal of this research was to develop, refine, and psychometrically validate a scale (Fear of Incompetence—Dementia Scale; FOI-D) assessing fear of incompetence in the context of relationships with a close family member diagnosed with dementia. Three online studies were conducted to accomplish the primary objective. In Study One, the factor structure of the FOI-D was assessed by conducting an exploratory factor analysis using data from 710 adults who indicated having a close living family member who had been diagnosed with dementia. In Study Two, the factor structure was validated via a confirmatory factor analysis and the psychometric properties were established using data from 636 adults who had a family member with dementia. Finally, Study Three determined the temporal consistency of the scale by retesting 58 participants from Study Two. The results from Study One indicated that the FOI-D Scale accounted for 51.75% of the variance and was comprised of three subscales: the Interaction Concerns subscale, the Caregiving Concerns subscale, and the Knowledge Concerns subscale. In Study Two, the three-factor structure was supported, resulting in a 58-item scale. Investigation of the psychometric properties demonstrated the FOI-D to be reliable and valid. In Study Three, the FOI-D Scale demonstrated excellent temporal consistency. This research provides future investigators, educators, and practitioners with an adaptable comprehensive tool assessing fear of incompetence in a variety of settings.

Social Behavior of Women Migrant Workers from Taiwan and Hong Kong After Returning to Their Home Regions

At Present cannot be denied that at this time women who work outside the home have reached their peak with the discovery of promising employment fields from an economic perspective, namely as Women Migrant Workers Overseas. As happened in Wates sub-district, the reasons for women or wives choosing to work as women migrant workers abroad are from an economic background that is still not fulfilled, the high level of daily needs, education costs and children's health, while the income of their husbands which is still very low. Becoming Women Migrant Workers Overseas is considered as the answer to get a better economic status. The purpose of this study is to describe and analyze the social behavior and images exhibited by female migrant workers from Taiwan and Hong Kong after retiring and returning to their place of origin, and to describe and analyze internal and external factors that encourage social behavior exhibited by female migrant workers from Taiwan and Hong Kong after retiring and returning to their home regions. To uncover this reality, qualitative research methods are used where the data obtained is processed by organizing and sorting data into patterns or categories and describing basic units so that they are more readable and interpretable. Based on the facts and phenomena obtained in the field, the results of the study are as follows: First, Female Migrant Workers from Taiwan and Hong Kong after retirement and returning to their area of origin become more consumptive due to different expectations and realities after following lifestyle trends by no longer basing on the value of the goods they consume. Second, the Changing Behavior of Social Life of Migrant Workers Women from Taiwan and Hong Kong after retiring and returning to their hometown due to environmental factors, adaptation to the work environment, length of service and lack of communication. Third, the Community Perception of the Success of Women Migrant Workers from Taiwan and Hong Kong after retiring and returning to their hometowns is a hegemony that makes the Migrant Workers follow that perception. Internal and external factors that encourage social behavior exhibited by female migrant workers from Taiwan and Hong Kong after retiring and returning to their home areas internally include: motivation of women migrant workers working abroad to fulfill their needs, following in the footsteps of successful female migrant workers previously and the lack of employment opportunities in the country, and the perception of being a female migrant worker abroad brought changes in the economic upturn and appreciation from the community. External factors include, reference groups originating from female migrant worker friends tend to be influenced by technological advances and Western style, improving family life and encouraging other family members to become successful female migrant workers is the goal of women becoming female migrant workers abroad, working in Foreign Affairs is considered to be able to improve social class and dignity of self and their families better. From these findings, a Major Proposition for Changing Social Behavior of Former Women Workers can be drawn from a change in consumption behavior that tends not to base the value of the goods consumed and social life behavior caused by environmental factors, adaptation to the work environment, length of work and rarely communicate.

118.7: Pain management in living donor hepatectomy.

Introduction: Organ donation from living family members still composes the majority of organ source in our country. Living donor hepatectomy (LDH) is often associated with significant acute and chronic postoperative pain and postoperative outcomes are effected by pain perception. Our postoperative analgesia regimen includes a thoracic epidural (bupivacaine 0.125%, fentanyl 0.1 mg/mL; 4 mL/h, bolus 5 mL, lockout 30 min) or intravenous (morphine, bolus 0.1mg/kg, lockout 10 min,) patient-controlled infusion. Two anaesthesiologists are dedicated to the Acute Pain Service and have the postoperative patients visited 4 times a day. Pain intensity is evaluated daily with an 11-point-numeric-scale (0–10) and prospectively registered in an electronic database. In case of ineffective epidural analgesia despite an additional bolus of local anaesthetic, the technique is changed to intravenous patient-controlled morphine infusion. We aimed to investigate our clinics pain management protocols effectiveness in LDH patients. Methods: We retrospectively investigated our pain management records from 2014 to 2019. Mode of analgesia technique, pain intensity, complications and side effects are recorded. Results: A total of 20 patients were (women n:6, men n:14) analysed. The mean age was 27,5 years (IQR: 22,75-37). Patients were followed for 2-3 days postoperatively for acute pain management and values obtained for the first two days are evaluated (Figure 1). Dural puncture happened in two patients but headache did not develop in both. Patients with intravenous patient controlled analgesia (n:3) had severe nausea (n:1) and constipation (n:1). None of the patients had hypotension or bradycardia in the postoperative period. Pain scores were higher in IV-PCA group. Conclusions: The donors are healthy adults who must be taken care of intensely. As stated in ERAS (enhanced recovery after surgery) protocols high epidural catheter placement is an effective mode of acute postoperative analgesia technique in LDH.

Preferences for family involvement among veterans in treatment for schizophrenia.

Examine preferences for family involvement in psychiatric care in a large, representative sample of veterans in treatment for schizophrenia. Veterans with schizophrenia or schizoaffective disorder (N = 801) completed an assessment that included questions about demographic and clinical characteristics, status of family support, and preference for family involvement in their psychiatric care. Open-ended items were independently coded by two raters and categorized; Cohen's kappa was calculated for each category. Among the 801 participants, 496 (61.9%) indicated that they had a family member who provided them with regular support; 304 (37.9%) had no family member who provided support; and 1 did not respond. Among the 304 without support, 272 (89.4%) had a living family member. Of the 496 participants who had a supportive family member, 135 (27.2%) wanted their family member involved in their care. Of the 272 participants who did not have a supportive family member, but had living family, 57 (21.0%) wanted their family involved. Barriers to involvement included concerns about privacy and burden. Preferred method of involvement included contact with the patient's psychiatrist and education about the illness. Preferences indicated by this large representative sample of individuals in care for schizophrenia indicate that a majority have supportive family and a substantial minority want family involved in their psychiatric care. Clinicians can address concerns about privacy and burden and deliver preferred services by phone or mail, overcoming anticipated barriers. Desire for family support groups was limited but present. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family.

To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration. Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of FBN1 gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals. In the four-generation family, classic MFS phenotypes were observed in all 5 patients, 2 of them had peculiar phenotype of bilateral macular degeneration. Mutation screening in FBN1 identified a heterozygous missense mutation (c.3932A>G, p.Y1311C) with co-segregation. This mutation was found with the MFS phenotypes in all 5 patients but not in unaffected members or unrelated controls. A Chinese consanguineous MFS family with uncommon bilateral macular degeneration and an unreported c.3932A>G mutation in FBN1 was identified. Our finding expands the FBN1 mutation spectrum and its possible role in the pathogenesis of Marfan syndrome.