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Cheers, Brian, Margaret Binell, Heather Coleman, Ian Gentle, Grace Miller, Judy Taylor i Colin Weetra. "Family violence". International Social Work 49, nr 1 (styczeń 2006): 51–63. http://dx.doi.org/10.1177/0020872806059401.
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English A study in an Australian Aboriginal community identified a new way of knowing family violence, locating it in the historical context of colonization, oppression, dispossession, disempowerment, dislocation and poverty. A community development approach to addressing family violence was developed based on this understanding and the strengths of the community. French Cette étude menée au sein d'une communautéaborigè ne d'Australie détermine une nouvelle fac¸ on d'appréhender la violence familiale en situant le problè me dans le contexte historique de la colonisation, de l'oppression, de la dépossession, de la déresponsabilisation, de la dislocation et de la pauvreté. Cette compréhension du phénomè ne a permis d'élaborer une approche de développement communautaire pour contrer la violence familiale, qui fait aussi appel aux forces de la communauté. Spanish Un estudio en una comunidad australiana aborigen identificó una nueva manera de entender la violencia doméstica, localizá ndola en el contexto histó rico de colonizació n, opresió n, desposesió n, falta de poder, desplazamiento y pobreza. Se desarrolló una metodología de desarrollo comunitario basado en este nuevo entendimiento y en las cualidades positivas de la comunidad.
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William Victora. "La orientación en familias de niños con autismo: Un abordaje necesario". GACETA DE PEDAGOGÍA, nr 44 (30.11.2022): 90–102. http://dx.doi.org/10.56219/rgp.vi44.1248.
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El presente artículo tuvo como finalidad plantear aproximaciones teóricas sobre el impacto del autismo en la familia y su abordaje desde la orientación. Es por ello, que se tomaron algunos referentes teóricos de la orientación familiar; se presenta una definición del autismo, sus características y cómo afecta en la familia, particularmente en los padres. La metodología empleada se basó en un diseño documental y como técnica se aplicó el análisis de contenidos. Como resultado se obtuvo que el autismo es un trastorno complejo que impacta en el ámbito familiar, desde lo emocional al surgir sentimientos de ansiedad, depresión, confusión o estrés; además los padres deben reorganizarse y hacer modificaciones al espacio físico del hogar. Se concluyó que desde la orientación familiar como proceso de ayuda se pueden destinar acciones para mejorar la dinámica funcional de las familias.
ABSTRAC
The purpose of this article was to propose theoretical approaches about the impact of autism in the family and its approach from the orientation. It is for this reason that some theoretical references of family orientation were taken; A definition of autism, its characteristics and how it affects the family, particularly the parents, is presented. The methodology used was based on a documentary design and content analysis was applied as a technique. As a result, it was obtained that autism is a complex disorder that impacts the family environment, from the emotional point of view, when feelings of anxiety, depression, confusion or stress arise; In addition, parents must reorganize and make modifications to the physical space of the home. It was concluded that from the family orientation as a help process, actions can be assigned to improve the functional dynamics of families.
Key words: Orientation, Autism, Family
RESUMÉ
Le but de cet article est de proposer des approches théoriques sur l'impact de l'autisme dans la famille et son approche à partir de l'orientation. C'est pour cette raison que quelques références théoriques de l'orientation familiale ont été prises ; Une définition de l'autisme, de ses caractéristiques et de ses effets sur la famille, notamment les parents, est présentée. La méthodologie utilisée était basée sur une conception documentaire et l'analyse de contenu a été appliquée en tant que technique. En conséquence, il a été obtenu que l'autisme est un trouble complexe qui affecte l'environnement familial, du point de vue émotionnel, lorsque surviennent des sentiments d'anxiété, de dépression, de confusion ou de stress ; De plus, les parents doivent réorganiser et apporter des modifications à l'espace physique de la maison. Il a été conclu qu'à partir de l'orientation familiale en tant que processus d'aide, des actions peuvent être assignées pour améliorer la dynamique fonctionnelle des familles.
Mots clés: Orientation, Familial, Autisme
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Bolaji, A. I., T. O. Ojebode, O. S. Adekanye i A. O. Bolaji. "Influence of Family Structure and Functionality on Immunization Status of Infants Attending GOPC of BMC Saki". Research Journal of Health Sciences 8, nr 3 (9.10.2020): 163–74. http://dx.doi.org/10.4314/rejhs.v8i3.2.
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Introduction: Vaccine-preventable diseases are endemic in Nigeria, and contribute greatly to childhood morbidities and mortalities. Good family structure has been reported to improve children's wellbeing, health and eating habit, but the contribution of family structure together with family functionality on immunization status has not been documented. Overall, the goal of the research was to determine the level of immunization status in the study population, assess their knowledge of immunization and determine what influence family structure and functionality have on children's immunization status.Methods: A cross-sectional descriptive study was conducted in 2016 in the General outpatient clinic (GOPC) of Baptist Medical Centre (BMC), Saki, Oyo State. Family APGAR Scale and self-design questionnaire were used to collect data from 299 respondents using systematic sampling technique. A SPSS (version 21) was used for the analysis.Results: Our results showed that 82.9% of the respondents were fully immunized and 98% had knowledge about Immunization. Majority of the respondents came from functional families, accounting for 85.6% of cases. The following factors were found to be statistically significantly associated with immunization status: family functionality (X2 = 101.694, P = 0.000), family type (p value =0.000), family size (p value = 0.000), ethnic group (p value = 0.000) and number of children (P value = 0.000)Conclusion: Our findings showed that there is an adequate knowledge of immunization in the study population, and that a child's immunization status is significantly influenced by the family structure and functionality. However, given the fact that this is a single, hospital-based study, several multi-center studies would have to be employed not just to validate this conclusion but also to inform policy making.
Keywords: Immunization status, family structure, family functionality, vaccine, health facility, Nigeria
French Title: Influence de la structure familiale et de la fonctionnalité sur le statut de vaccination des nourrissons assistant au GOPC de BMC, Saki
Les morts évitables par la vaccination restent endémiques et contribuent de manière significative à la morbidité infantile au Nigéria et il a été reconnu qu'une bonne structure familiale améliore le bien-être, la santé et les habitudes alimentaires des enfants, mais la contribution de la structure et de la fonctionnalité de la famille au statut vaccinal n'est pas encore établie. Le but de cette étude est de déterminer le niveau d'immunisation des répondants, d'évaluer leurs connaissances en matière d'immunisation et de déterminer l'influence de la structure et de la fonctionnalité de la famille sur l'état de vaccination.
Méthode de l'étude: Une étude descriptive transversale a été menée en 2016 dans la clinique externe générale (GOPC) du Baptist Medical Center (BMC), Saki, dans l'état d'Oyo. L'échelle familiale APGAR et le questionnaire d'auto-conception ont été employés pour recueillir des données auprès de 299 répondants à l'aide d'une technique d'échantillonnage systématique. Un SPSS (version 21) a été utilisé pour l'analyse.
Résultats de l'étude: Les résultats ont révélé que la majorité (82,9%) des répondants était entièrement immunisée et que 98% avaient des connaissances sur la vaccination. La majorité des répondants (85,6%) étaient issus de familles fonctionnelles. La fonctionnalité de la famille était statistiquement significative sur le statut vaccinal (X2 = 101,694, P = 0,000) ainsi que sur certaines composantes de la structure familiale: type de famille (P = 0,000), taille de la famille (P = 0,000), groupe ethnique (P = 0,000), et nombre d'enfants (P = 0,000)Conclusion: Les répondants avaient une connaissance adéquate de la vaccination. De plus, la fonctionnalité familiale et la structure familiale influencent le statut vaccinal des nourrissons. Par conséquent, d'autres études devraient être menées sur l'influence de la fonctionnalité et de la structure de la famille sur le statut vaccinal en utilisant une approche multicentrique.
Mots-clés: Immunisation, fonctionnalité familiale, structure familiale, vaccine
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Barroso Martínez, Ascensión, Ramón Sanguino Galván i Tomas M. Bañegil Palacios. "El enfoque basado en el conocimiento en las empresas familiares." Investigación Administrativa 41-1 (1.01.2012): 1–8. http://dx.doi.org/10.35426/iav41n109.05.
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Aunque algunas investigaciones sobre gestión del conocimiento se han centrado en las pequeñas y medianas empresas, existen escasos trabajos centrados en las empresas familiares. Las prácticas de gestión del conocimiento son una fuente importante de ventaja competitiva, que permiten a una organización ser innovadora. Estudios anteriores muestran que una de las causas del fracaso de las empresas familiares es la falta de voluntad de los miembros de la familia para crear y transferir conocimientos entre generaciones. Por ello, este trabajo se centra en el estudio de la estrategia basada en conocimiento (EBC) en las empresas familiares. Como conclusión, la gestión del conocimiento es considerado un activo estratégico clave que puede estar positivamente asociado con mayores niveles de rendimiento.
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Olopade, Olufunmilayo. "A family-based approach to primary prevention of breast cancer". Journal of Clinical Oncology 27, nr 15_suppl (20.05.2009): s2. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.s2.
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s2 We are currently focusing on the interplay of genes and environment in the development of estrogen receptor (ER)-negative breast cancer, which is aggressive, less responsive to treatment, and more likely to strike young women and those of African ancestry. Unfortunately, there are no strategies to prevent ER-negative breast cancer and research is urgently needed. Nevertheless, we have made progress in understanding genetic risk factors for some familial forms of breast cancer, which is reason enough to adopt family-based interventions for breast cancer prevention, especially among families with identifiable highly penetrant mutations in breast cancer susceptibility genes. In 1997, I chaired the ASCO Task Force on Cancer Genetics Education, charged to educate oncologists about the importance of genetics in clinical oncology practice. Since then, a growing body of evidence documents the benefits of preventive measures with minimal risk to women with identifiable highly penetrant mutations in BRCA1 and BRCA2 genes. Whereas other genes, such as TP53 in Li-Fraumeni Syndrome and PTEN in Cowden syndrome, contribute to a small fraction of hereditary breast cancer, mutations in these genes are rare. Germ-line mutations in BRCA1 or BRCA2 are strong predictors of breast and/or ovarian cancer development, and the contribution of these mutations to breast cancer risk within any specific population is a function of both their prevalence and penetrance. Mutation prevalence varies among ethnic groups and may be influenced by founder mutations as observed in Ashkenazi Jews and Icelanders. Although estimates of mutation prevalence and penetrance rates are inconsistent and occasionally controversial, understanding them is critical for providing individualized risk assessment. Although the contribution of other genes to early onset and familial breast cancer needs clarification, genetic testing for BRCA1 and BRCA2 has become standard of care and an important component of personalized breast cancer risk assessment and prevention.
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Hoeeg, Didde, Dan Grabowski i Ulla Christensen. "Intra-familial stigmatization". Health Education 118, nr 3 (3.04.2018): 227–38. http://dx.doi.org/10.1108/he-10-2017-0056.
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Purpose To treat childhood obesity, health education interventions are often aimed at the whole family. However, such interventions seem to have a relatively limited effect on weight loss. The purpose of this paper is to examine how families enrolled in a family-based health education intervention manage the intervention in their daily lives and to understand how and why intra-familial conflicts may occur. Design/methodology/approach Data consist of 10 in-depth semi-structured family interviews with 25 family members (10 children, 15 parents), who were enrolled in a family-based health education intervention for families with an obese child. Findings Actively involving all family members in the intervention proved difficult in many families. Often, the children experienced inconsistent family support, which led to intra-familial conflicts. When parents were unsuccessful in changing unhealthy habits, the responsibility for healthy living was often passed on to the obese child. Thus, several families managed the intervention by making specific rules that only the obese child was required to adhere to. This resulted in several children feeling stigmatized in their own family. Practical implications Professionals working with family-based health education interventions should understand that, in order to minimize the risk of intra-familial conflicts and stigmatization of the obese child, all family members must be equally committed to the lifestyle intervention. Originality/value The study contributes to the existing literature by adding specific knowledge about how and why conflicts occur in these families and what the consequences of these conflicts are.
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BUCIUCEANU-VRABIE, Mariana, Nina MEŠL, Nevenka ZEGARAC i Tadeja KODELE. "Skills in family support: content analysis of International Organizations’ Websites". Revista Calitatea Vieții 34, nr 1 (2023): 15–32. http://dx.doi.org/10.46841/rcv.2023.01.02.
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The study is part of a comprehensive research project launched within the framework of COST Action “The pan-European Family Support Network: A bottom-up, evidence-based and multidisciplinary approach” (EurofamNet, code CA18123). In this project, an exercise of mapping international organizations on skills qualification in family support has been developed. The aim of this study was to examine the profile of organizations and analyze their web-provided content to identify, describe and catalogue available data on basic professional skills, promoted, developed, and applied in family support work. The final sample includes 88 international and European organizations working with families with children and youth in various fields (psychology, social work, health, law, etc.) identified by the snowball technique. Using the method of web-content analysis three interconnected maps of bodies in the field were developed, highlighting a general profile of the organizations, and a wide range of important professional skills of family support workforce were specified and ranked. Frequency analyses and contingency tables were carried out. The results show that most of the organizations in the field do not present a plain definition of skills framework listed generally or in a separate document; multidisciplinary approaches to family support skills are not yet common practice; and evaluations of skills or references to a standard framework are limited. Keywords: family support; skills; family support workforce; standards; content analysis. Studiul face parte dintr-un proiect de cercetare de anvergură, lansat în cadrul acțiunii COST – „Rețeaua pan-Europeană de suport pentru familie„ (EurofamNet, cod 18123). În cadrul acestui proiect a fost dezvoltat un exercițiu de cartografiere a organizațiilor internaționale privind calificarea competențelor celor care activează în domeniul suportului familial. Scopul acestui studiu a fost de a examina profilul organizațiilor și de a analiza conținutul paginilor lor de web, pentru a identifica, descrie și cataloga datele disponibile despre competențele (skill[1]urile) profesionale de bază, promovate, dezvoltate și aplicate în cadrul muncii de suport pentru familie. Eșantionul final cuprinde 88 de organizații internaționale și europene ce lucrează cu familiile cu copii și tineri din diverse domenii (psihologie, asistență socială, sănătate, drept etc.), identificate prin tehnica bulgărelui de zăpadă. Folosind metoda analizei de conținut a paginilor de web au fost elaborate trei hărți interconectate a organizațiilor din domeniu, punând în evidență profilul lor general, precum și o gamă largă de skill-uri profesionale importante ale forței de muncă de suport familial a fost specificată și ierarhizată. Rezultatele arată că majoritatea organizațiilor din domeniu nu prezintă o definiție clară a unui cadru de competențe nici la modul general nici separat; abordarea multidisciplinară a competențelor profesionale (skill-uri) de suport familial nu sunt încă o practică comună; evaluările skill-urilor sau referința la un cadru standard sunt limitate. Cuvinte-cheie: suport pentru familie; competențe (skill-uri); forța de muncă pentru suportul familiei; standarde; analiza de conținut.
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Wilcken, D. E. L., B. L. Blades i N. P. B. Dudman. "A neonatal screening approach to the detection of familial hypercholesterolaemia and family-based coronary prevention". Journal of Inherited Metabolic Disease 11, S1 (marzec 1988): 87–90. http://dx.doi.org/10.1007/bf01800573.
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Lynch, Patrick M. "Current Approaches in Familial Colorectal Cancer: A Clinical Perspective". Journal of the National Comprehensive Cancer Network 4, nr 4 (kwiecień 2006): 421–30. http://dx.doi.org/10.6004/jnccn.2006.0034.
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Individuals with a family history of colorectal cancer or colorectal adenomas have an increased risk for colorectal cancer. When no hereditary syndrome is evident, screening is based on empiric risk estimates. The risk is greatest for individuals with specific inherited cancer-predisposing disorders. When conditions such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer are diagnosed, specific neoplasm risk estimates can usually be performed based on advances in molecular genetics. These estimates lead to more straightforward and cost-effective approaches to surveillance and management. The National Comprehensive Cancer Center Network (NCCN) and other groups have provided detailed guidelines for evaluating patients based on recognition of clinical syndrome characteristics, followed by appropriate genetic counseling, genetic testing, and optimal surveillance. The NCCN guidelines are used as a frame of reference for this discussion of selected recent advances in human cancer genetics as they apply to clinical practice.
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Jermias, Emanuel Omedetho, Mauliadi Ramli i Abdul Rahman. "Familisme dalam Manajemen Rumah Makan Sederhana di Kota Makassar". Ideas: Jurnal Pendidikan, Sosial, dan Budaya 9, nr 1 (14.02.2023): 79. http://dx.doi.org/10.32884/ideas.v9i1.1151.
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The Micro, Small and Medium Enterprises sector, including simple restaurant business activities in Makassar City, contributes to the economy. This study aims to reveal the management of family-based restaurants and their implications for creating wealth, especially within the family environment. The method used in answering the research objectives, then carried out observations, interviews, and document studies. The results of the study show that restaurant owners prefer to recruit employees from family and relatives based on the moral economy approach. The selection of employees with a moral economy approach for restaurant owners is intended so that these employees can obtain a more prosperous level of economic life and a more proper education.
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Cabrera-Suárez, M. Katiuska, M. Cruz Déniz-Déniz i Josefa D. Martín-Santana. "Family Social Capital, Trust within the TMT, and the Establishment of Corporate Goals Related to Nonfamily Stakeholders". Family Business Review 28, nr 2 (20.03.2014): 145–62. http://dx.doi.org/10.1177/0894486514526754.
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Based on a social capital approach, we analyze how structural and cognitive family social capital (FSC) influences the establishment of corporate goals related to nonfamily stakeholders (EGNFS) in family firms. Data were obtained from 374 family and nonfamily members of top management teams (TMTs) in 173 Spanish family firms. Results show that structural FSC directly influences the establishment of corporate goals related to nonfamily stakeholders. Also there is an indirect influence through the effect FSC has on the relational social capital (trust) in the TMT. When data are split based on familial and nonfamilial TMTs (depending on the percentage of family members), results show important differences between the two groups.
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Kim, Minki, Daehan Kim, Changha Hwang, Seongje Cho, Sangchul Han i Minkyu Park. "Machine-Learning-Based Android Malware Family Classification Using Built-In and Custom Permissions". Applied Sciences 11, nr 21 (1.11.2021): 10244. http://dx.doi.org/10.3390/app112110244.
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Malware family classification is grouping malware samples that have the same or similar characteristics into the same family. It plays a crucial role in understanding notable malicious patterns and recovering from malware infections. Although many machine learning approaches have been devised for this problem, there are still several open questions including, “Which features, classifiers, and evaluation metrics are better for malware familial classification”? In this paper, we propose a machine learning approach to Android malware family classification using built-in and custom permissions. Each Android app must declare proper permissions to access restricted resources or to perform restricted actions. Permission declaration is an efficient and obfuscation-resilient feature for malware analysis. We developed a malware family classification technique using permissions and conducted extensive experiments with several classifiers on a well-known dataset, DREBIN. We then evaluated the classifiers in terms of four metrics: macrolevel F1-score, accuracy, balanced accuracy (BAC), and the Matthews correlation coefficient (MCC). BAC and the MCC are known to be appropriate for evaluating imbalanced data classification. Our experimental results showed that: (i) custom permissions had a positive impact on classification performance; (ii) even when the same classifier and the same feature information were used, there was a difference up to 3.67% between accuracy and BAC; (iii) LightGBM and AdaBoost performed better than other classifiers we considered.
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Lynch, Henry T., Patrice Watson, Stefano Tarantolo, Peter H. Wiernik, Brigid Quinn-Laquer, Karin Isgur Bergsagel, Laetitia Huiart i in. "Phenotypic Heterogeneity in Multiple Myeloma Families". Journal of Clinical Oncology 23, nr 4 (1.02.2005): 685–93. http://dx.doi.org/10.1200/jco.2005.10.126.
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Purpose To describe a series of families with familial multiple myeloma (MM). Observations were used to generate hypotheses about the role of genetic factors, the mode of inheritance of these factors, and the association of other cancers with familial MM. Patients and Methods This observational study consisted of 39 families with multiple cases of MM or related disorders from four collaborating research centers. Each center followed its usual family study method. Probands were interviewed, and, when possible, cancers were verified by medical records and pathology review. A working pedigree was compiled on each family. Results Seventeen families had affected members in two or more generations, and eight families had two or more affected members in a single generation. Four families had two or more members with plasma cell dyscrasias, with or without a single case of MM. In the remaining 10 families, a single MM case occurred with a family history of other cancers. Other cancers observed in family members included hematologic malignancies and solid tumors. In families with MM in multiple generations, there was a decrease in the age at MM diagnosis in successive generations. Conclusion The study of familial MM may provide insights into the pathogenesis and, ultimately, the control and prevention of MM and related disorders. Population-based epidemiologic studies are crucial, but because of the rarity of familial MM, a concerted case-finding approach may also be fruitful. Therefore, we propose an international consortium to study familial MM, and we invite all interested colleagues to participate.
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Vrecar, Irena, Ales Maver, Zvezdan Pirtosek, Dejan Georgiev, Zalika Klemenc-Ketis i Borut Peterlin. "Family history based approach in risk prediction for Parkinson's disease: Additional contribution of familial associated disorders". Genetika 47, nr 1 (2015): 303–10. http://dx.doi.org/10.2298/gensr1501303v.
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The aim of our study was to examine the contribution of family history of Parkinson's disease and its associated disorders in the assessment of predictive capacity of risk models for Parkinson?s disease. In a population of 192 patients with Parkinson?s disease and 1659 healthy individuals we investigated the impact of environmental factors and the effects of family history on Parkinson's disease risk. Pesticides exposure, positive family history of Parkinson?s disease and a positive family history of dementia and melanoma were associated to an increased risk for Parkinson?s disease, with results regarding family history of depression near to statistical significance. Smoking and caffeine intake were associated to a decreased risk for Parkinson?s disease. Three risk prediction models were assessed using the area under the curve approach: first model was based on known environmental risk factors, in the second model we added family history of Parkinson?s disease and in the third model we additionally included family history of dementia, melanoma and depression. We showed that inclusion of data on family history of associated disorders (AUC 0.76) improves predictive capacity of risk model for Parkinson?s disease in comparison with the first (AUC 0.62) and the second model (AUC 0.71). We concluded that family history of associated disorders: dementia, depression and melanoma improves predictive capacity of risk models for Parkinson?s disease.
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Maliachova, Olga, i Stella Stabouli. "Familial Hypercholesterolemia in Children and Adolescents: Diagnosis and Treatment". Current Pharmaceutical Design 24, nr 31 (2.01.2019): 3672–77. http://dx.doi.org/10.2174/1381612824666181010145807.
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Familial hypercholesterolemia is a hereditary genetic disorder predisposing in premature atherosclerosis and cardiovascular complications. Early diagnosis as well as effective treatment strategies in affected children are challenges among experts. Universal screening and cascade screening among families with familial hypercholesterolemia are being controversially discussed. Diagnosis of familial hypercholesterolemia in children and adolescents is usually based on clinical phenotype upon LDL-C levels and family history of premature cardiovascular and/or elevated LDL-C. Treatment approaches for familial hypercholesterolemia in the pediatric population are multidisciplinary and aim to reduce total cardiovascular risk. The most widely recommended and effective pharmacotherapy in the pediatric age group is currently statins. Ezetimibe and bile acid sequestrants are usually used as second-line agents. New therapeutic approaches, such as mipomersen and PCSK9 inhibitors seem promising. The main gap of evidence remains the lack of longitudinal follow up studies investigating cardiovascular outcomes, side effects, and effectiveness of treatment starting from childhood. Evidence would be expected in the near future by cohort and registry studies.
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Moldovan, Valeriu, Claudia Bănescu i Minodora Dobreanu. "Genetic Diagnostic Approaches in Familial Hypercholesterolemia Evaluation". Revista Romana de Medicina de Laborator 29, nr 3 (1.07.2021): 319–25. http://dx.doi.org/10.2478/rrlm-2021-0025.
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Abstract Familial hypercholesterolemia (FH) manifested as atherosclerosis is a major cause of coronary heart disease. Different scoring systems based on clinical and paraclinical data are currently used, but the FH diagnosis should be made only in the presence of the causative genetic defect. In the present study, 12 symptomatic (previously diagnosed with atherosclerosis) and asymptomatic family members were investigated. Serum lipids were measured using commercial reagents. A genetic investigation was performed by Sanger sequencing using commercial reagents and custom primers, while copy number variations and a selected set of 40 point mutations were evaluated using in vitro diagnostic medical devices. For the investigated patients, serum lipids were within the reference range, due to the fact that the subjects were following lipid-lowering therapy, and smoking was the only identifiable additional risk factor. Four benign exon variants and three intron variants situated within the low-density lipoprotein cholesterol receptor gene were identified by Sanger sequencing. No copy number variations and none of the 40 investigated point mutations were determined. Although independently considered benign, the combined effect of the identified genetic conditions could be pathogenic under the influence of additional risk factors. Even in the presence of a diagnosis made using clinical scores, the molecular diagnosis is often challenging, attesting to the complexity of FH genetic etiology.
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Ray, Alisa. "Art therapy postcards:". South African Journal of Arts Therapies 1, nr 1 (13.07.2023): 111–33. http://dx.doi.org/10.36615/sajat.v1i1.2494.
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This research article draws on a master’s thesis. Inherited perpetrator trauma may result from a family legacy of past familial collaboration with the South African apartheid regime. This historical narrative emerges from a familial relationship with the artist Irmin Henkel, the author’s step-grandfather. Henkel was known as the official portrait painter of the 1960s apartheid regime Cabinet. A heuristic self-study and arts-based approach were used to create a five-step protocol that art therapists can use to treat inherited perpetrator trauma. The approach used postcards as an art therapy tool. I repurposed family photographs into postcards to engage with the past. I also wrote reflective narratives. Inherited perpetrator trauma theories were used. A dialectical thinking approach was used that considers more than one perspective. Three main themes emerged: guilt, denial, and toxic shame. The creation of postcards from historical family narratives successfully uncovered the themes. The protocol has not been tested beyond the self-study. However, the use of museum spaces and the theory of object relations is considered in this article. Making toxic shame conscious and confronting and transforming this trauma can prevent a repeat of past historical transgressions and encourage healthier relationships to self, family, community and a broader South African society.
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Rotter, Jerome I. "Immunogenetic Susceptibilities in Inflammatory Bowel Disease". Canadian Journal of Gastroenterology 4, nr 7 (1990): 261–66. http://dx.doi.org/10.1155/1990/380204.
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It is now clear that the major identified risk factor for the inflammatory bowel diseases (IBDs) is a positive family history. Furthermore, the available data in spouses and twins indicate that the genetic susceptibility is due in large measure to shared familial predisposition. This emphasizes the importance of identifying the actual familial susceptibilities. Given the data for immunopathogenetic etiologies in the genesis of IBD, the logical candidate genes are those that involve the immune system. Data for several of these gene marker systems have been considered confusing or inconclusive. When approached with the concept that IBD is a genetically heterogeneous group of disorders, patterns are beginning to emerge for the human lymphocyte antigen class II region genes on chromosome 6, and the complement C3 gene on chromosome 19. Available data do not yet implicate the immunoglobulin or T cell receptor genes, but further studies are needed, especially for the latter. Firm identification of genetic susceptibilities will require the study of an adequate number of families, which is being facilitated by the establishment of an IBD family-based cell line bank. Identification of the genes that predispose to IBD will allow the study of natural history from susceptibility to clinical disease and, when understood, will provide new approaches to disease therapy and even prevention.
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Cledjo, Edgard Odjo, i Fanès Azalou Tingbe. "Gouvernance De La Planification Familiale Et Realite Sociale Au Benin". European Scientific Journal, ESJ 14, nr 23 (31.08.2018): 138. http://dx.doi.org/10.19044/esj.2018.v14n23p138.
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This research aims to analyze the role and practices of actors in the field of Family Planning in Benin. It is based on a methodological approach that takes into account the collection of data from 209 people (civil society actors, adopters, state actors, etc.), selected by reasoned choice. The data collected were analyzed and the results were analyzed according to the actors' games in a comprehensive perspective and a more holistic approach than methodological individualism. The results show that technical and financial partners are the "dominant actor" in FP in Benin, their decisions and projects are crucial for the evolution of contraceptive prevalence in Benin. The state, NGOs, adopters of FP methods and the general population constitute "relay actors". Traditional chiefdoms, religious denominations, populations, and to some extent development associations are in a position quite far from the goals of FP. On the other hand, NGOs, adopters of planning methods and technical and financial partners are at the center of the fray, and therefore at the heart of a network of several objectives. With the difficulties mentioned by the actors and the disadvantages mentioned by the adopters, family planning, in order to be accepted and become effective, must not go against the socio-cultural and economic norms that govern the conditions of reproduction.
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Harty, Lea C., Albert Y. Lin, Alisa M. Goldstein, Elaine S. Jaffe, Mary Carrington, Margaret A. Tucker i William S. Modi. "HLA-DR, HLA-DQ, and TAP genes in familial Hodgkin disease". Blood 99, nr 2 (15.01.2002): 690–93. http://dx.doi.org/10.1182/blood.v99.2.690.
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Abstract The HLA region has long been implicated in sporadic and familial Hodgkin disease (HD), with recent case-control studies suggesting that HLA class II loci predispose to sporadic nodular sclerosis HD (NSHD). To determine whether this predisposition extends to familial HD, HLA class II loci (DRB1, DQA1, DQB1, DRB3, DRB4, and DRB5) and transporter associated with antigen processing (TAP) loci (TAP1, TAP2) were investigated in 100 members of 16 families with at least 2 confirmed cases of HD. With the use of the transmission disequilibrium test, evidence for linkage disequilibrium with familial HD and, in particular, familial NSHD was obtained for the DRB1*1501-DQA1*0102-DQB1*0602 haplotype, the TAP1 allele encoding Ile at residue 333, and the DRB5-0101 allele. These 3 markers were in linkage disequilibrium and may not represent independent susceptibility regions. Use of a family-based approach excludes population stratification as an explanation for these findings.
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Cruceanu, Cristiana, Amirthagowri Ambalavanan, Dan Spiegelman, Julie Gauthier, Ronald G. Lafrenière, Patrick A. Dion, Martin Alda, Gustavo Turecki i Guy A. Rouleau. "Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder". Genome 56, nr 10 (październik 2013): 634–40. http://dx.doi.org/10.1139/gen-2013-0081.
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Bipolar disorder (BD) is a psychiatric condition characterized by the occurrence of at least two episodes of clinically disturbed mood including mania and depression. A vast literature describing BD studies suggests that a strong genetic contribution likely underlies this condition; heritability is estimated to be as high as 80%. Many studies have identified BD susceptibility loci, but because of the genetic and phenotypic heterogeneity observed across individuals, very few loci were subsequently replicated. Research in BD genetics to date has consisted of classical linkage or genome-wide association studies, which have identified candidate genes hypothesized to present common susceptibility variants. Although the observation of such common variants is informative, they can only explain a small fraction of the predicted BD heritability, suggesting a considerable contribution would come from rare and highly penetrant variants. We are seeking to identify such rare variants, and to increase the likelihood of being successful, we aimed to reduce the phenotypic heterogeneity factor by focusing on a well-defined subphenotype of BD: excellent response to lithium monotherapy. Our group has previously shown positive response to lithium therapy clusters in families and has a consistent clinical presentation with minimal comorbidity. To identify such rare variants, we are using a targeted exome capture and high-throughput DNA sequencing approach, and analyzing the entire coding sequences of BD affected individuals from multigenerational families. We are prioritizing rare variants with a frequency of less than 1% in the population that segregate with affected status within each family, as well as being potentially highly penetrant (e.g., protein truncating, missense, or frameshift) or functionally relevant (e.g., 3′UTR, 5′UTR, or splicing). By focusing on rare variants in a familial cohort, we hope to explain a significant portion of the missing heritability in BD, as well as to narrow our current insight on the key biochemical pathways implicated in this complex disorder.
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Harold, Gordon T., Leslie D. Leve, Hyoun K. Kim, Liam Mahedy, Darya Gaysina, Anita Thapar i Stephan Collishaw. "Maternal caregiving and girls' depressive symptom and antisocial behavior trajectories: An examination among high-risk youth". Development and Psychopathology 26, nr 4pt2 (listopad 2014): 1461–75. http://dx.doi.org/10.1017/s095457941400114x.
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AbstractPast research has identified maternal depression and family of origin maltreatment as precursors to adolescent depression and antisocial behavior. Caregiving experiences have been identified as a factor that may ameliorate or accentuate adolescent psychopathology trajectories. Using a multilevel approach that pools the unique attributes of two geographically diverse, yet complementary, longitudinal research designs, the present study examined the role of maternal caregiver involvement as a factor that promotes resilience-based trajectories related to depressive symptoms and antisocial behaviors among adolescent girls. The first sample comprises a group of US-based adolescent girls in foster care (n = 100; mean age = 11.50 years), each of whom had a history of childhood maltreatment and removal from their biological parent(s). The second sample comprises a group of UK-based adolescent girls at high familial risk for depression (n = 145; mean age = 11.70 years), with all girls having biological mothers who experienced recurrent depression. Analyses examined the role of maternal caregiving on girls' trajectories of depression and antisocial behavior, while controlling for levels of co-occurring psychopathology at each time point. Results suggest increasing levels of depressive symptoms for girls at familial risk for depression but decreasing levels of depression for girls in foster care. Foster girls' antisocial behavior also decreased over time. Maternal caregiver involvement was differentially related to intercept and slope parameters in both samples. Results are discussed with respect to the benefits of applying multilevel (multisample, multiple outcome) approaches to identifying family-level factors that can reduce negative developmental outcomes in high-risk youth.
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Sim, Shin Wei, Tze Ling Gwendoline Beatrice Soh i Lalit Kumar Radha Krishna. "Multi-dimensional approach to end-of-life care: The Welfare Model". Nursing Ethics 26, nr 7-8 (14.10.2018): 1955–67. http://dx.doi.org/10.1177/0969733018806705.
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Appropriate and balanced decision-making is sentinel to goal setting and the provision of appropriate clinical care that are attuned to preserving the best interests of the patient. Current family-led decision-making in family-centric societies such as those in Singapore and other countries in East Asia are believed to compromise these objectives in favor of protecting familial interests. Redressing these skewed clinical practices employing autonomy-based patient-centric approaches however have been found wanting in their failure to contend with wider sociocultural considerations that impact care determinations. Evaluation of a number of alternative decision-making frameworks set out to address the shortcomings of prevailing atomistic and family-centric decision-making models within the confines of end-of-life care prove these alternative frameworks to be little better at protecting the best interests of vulnerable patients. As a result, we propose the Welfare Model that we believe is attentive to the relevant socio-culturally significant considerations of a particular case and better meets the needs of end-of-life care goals of preserving the welfare of patients. Employing a multi-professional team evaluation guided by regnant psychosocial, legal, and clinical standards and the prevailing practical and clinical realities of the particular patient’s setting the Welfare Model provides a clinically relevant, culturally sensitive, transparent, and evidence-based approach to care determinations.
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Kane, Laura Wildemann. "WHAT IS A FAMILY? CONSIDERATIONS ON PURPOSE, BIOLOGY, AND SOCIALITY". Public Affairs Quarterly 33, nr 1 (1.01.2019): 65–88. http://dx.doi.org/10.2307/26910010.
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Abstract In this article, I examine and analyze paradigmatic conceptions of the family that are based upon a number of assumed primary purposes that the family serves for its members. In doing so, I argue that existing paradigmatic conceptions of the family do not capture the unique primary purpose of the family. I then suggest that a reconceptualization of the family is necessary to move away from inadequate paradigmatic conceptions and toward a more robust conception of the family. The approach taken in this article requires an examination into the way(s) the family has been defined descriptively—specifically, how families have been defined historically—as a means to determine what a normative theory of the family might look like. The goal of this inquiry is to define the family in normative terms, which consequently moves the definition of the family to a new conceptual landscape. Last, I present my own account of familial relations that aims to capture a normative understanding of the unique primary purpose of the family.
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Ding, Xinghuan, Sen Zhao, Qianqian Zhang, Zihui Yan, Yang Wang, Yong Wu, Xiaoxin Li i in. "Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family". Journal of NeuroInterventional Surgery 12, nr 2 (10.08.2019): 221–26. http://dx.doi.org/10.1136/neurintsurg-2019-014900.
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BackgroundGenetic risk factors play an important role in the pathogenesis of familial intracranial aneurysms (FIAs); however, the molecular mechanisms remain largely unknown.ObjectiveTo investigate potential FIA-causing genetic variants by rare variant interrogation and a family-based genomics approach in a large family with an extensive multigenerational pedigree with FIAs.MethodExome sequencing (ES) was performed in a dominant likely family with intracranial aneurysms (IAs). Variants were analyzed by an in-house developed pipeline and prioritized using various filtering strategies, including population frequency, variant type, and predicted variant pathogenicity. Sanger sequencing was also performed to evaluate the segregation of the variants with the phenotype.ResultsBased on the ES data obtained from five individuals from a family with 7/21 living members affected with IAs, a total of 14 variants were prioritized as candidate variants. Familial segregation analysis revealed that NFX1 c.2519T>C (p.Leu840Pro) segregated in accordance with Mendelian expectations with the phenotype within the family—that is, present in all IA-affected cases and absent from all unaffected members of the second generation. This missense variant is absent from public databases (1000genome, ExAC, gnomAD, ESP5400), and has damaging predictions by bioinformatics tools (Gerp ++ score = 5.88, CADD score = 16.43, MutationTaster score = 1, LRT score = 0). In addition, 840Leu in NFX1 is robustly conserved in mammals and maps in a region before the RING-type zinc finger domain.ConclusionNFX1 c.2519T>C (p.Leu840Pro) may contribute to the pathogenetics of a subset of FIAs.
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Discua Cruz, Allan. "There is no need to shout to be heard! The paradoxical nature of corporate social responsibility (CSR) reporting in a Latin American family small and medium-sized enterprise (SME)". International Small Business Journal: Researching Entrepreneurship 38, nr 3 (maj 2020): 243–67. http://dx.doi.org/10.1177/0266242619884852.
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Drawing on the paradox and reciprocal stewardship theory, this study focuses on tensions in corporate social responsibility (CSR) reporting experienced by a family small and medium-sized enterprise (SME) in a developing Latin American country. Prior literature has suggested a prescriptive, tension-free process, led by family members and driven by an interest to protect and enhance the reputation of both the family and the firm. Relying on an in-depth qualitative approach, this study unveils that CSR reporting is not immune to contradictions between familial and external expectations. The findings reveal that religious beliefs can emerge as a strong source of tensions. A reciprocal stewardship perspective allows an understanding of how and why family and non-family members work together and handle paradoxes. A conceptual model is proposed which is based on multiple sources of emergence (family-related, business-related and external sources) and management/avoidance of tensions in CSR reporting, mediated by the types of relationships among family members and between family and non-family members. Implications and opportunities for further research are subsequently presented.
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Holmes, Douglas R., i Jean H. Quataert. "An Approach to Modern Labor: Worker Peasantries in Historic Saxony and the Friuli Region over Three Centuries". Comparative Studies in Society and History 28, nr 2 (kwiecień 1986): 191–216. http://dx.doi.org/10.1017/s0010417500013827.
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The spread of manufacture in the European countryside initiated the formation of vital and complex rural laboring groups that defy neat classification. The nature of livelihood in these rural settings furthered an integration of diverse productive involvements rather than the creation of narrow occupational niches. In the course of their labor careers, men and women moved between agrarian and industrial pursuits—weaving linen cloth, spinning silk, raising livestock, digging potatoes, tending vineyards, making bricks, mining coal, casting iron, and forging steel. In this context, livelihood was not merely an individual concern; rather, it was part of a broader household strategy, rooted in a family-based agrarian holding. The maintenance of bonds to peasant agriculture fostered familial solidarity over working-class identity. These laborers saw their destinies in the immediacy of flesh-and-blood relationships among family and kin and not in more abstract social and political identifications.
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LeBouef, Samantha, i Jodi Dworkin. "First-Generation College Students and Family Support: A Critical Review of Empirical Research Literature". Education Sciences 11, nr 6 (15.06.2021): 294. http://dx.doi.org/10.3390/educsci11060294.
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The majority of empirical literature on first generation college students (FGCSs) in the U.S. asserts that because their parents did not attend college, FGCSs are lacking important resources to be successful in college. However, this results in a deficit-based approach to the study of FGCSs that tends to highlight the differences between first-generation and continuing-education students. However, FGCSs possess a wealth of resources from parents and families that make them successful, and that are often ignored in research. Asset-based approaches to the study of FGCSs are becoming more frequent in the form of books, book chapters, and white papers; however, published empirical research has yet to adopt this approach. As a result, a deeper understanding of FGCSs’ experiences is essential to advancing diversity and equity in higher education. To begin to address this gap, a systematic literature review of empirical studies following the PRISMA framework was conducted on first generation college students and family support; the literature was critically reviewed and future directions for the field were identified. Applying a critical, cultural, and familial lens to the study of first-generation college students will contribute to reframing the research narrative towards an asset-based narrative.
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Bureau, Alexandre, Jordie Croteau, Arafat Tayeb, Chantal Mérette i Aurélie Labbe. "Latent class model with familial dependence to address heterogeneity in complex diseases: adapting the approach to family-based association studies". Genetic Epidemiology 35, nr 3 (9.02.2011): 182–89. http://dx.doi.org/10.1002/gepi.20566.
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Cameron, Claire, Margaret O'Brien, Lydia Whitaker, Katie Hollingworth i Hanan Hauari. "Income, ethnic diversity and family life in East London during the first wave of the pandemic: An assets approach". Journal of Family Research 34, nr 1 (1.04.2022): 221–48. http://dx.doi.org/10.20377/jfr-725.
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Objective: This paper reports first results from a survey of 992 parents and parents to be living in an ethnically diverse and socio-economically unequal borough of East London during the coronavirus pandemic that reduced mobility, closed services and threatened public health.
Background: Little is known about the place based impacts of the pandemic on families with young children. We describe the living circumstances of families with children under five or expecting a baby living in Tower Hamlets during the Coronavirus pandemic in 2020, and then examine the relative importance of household characteristics such as ethnicity and household income for adverse impacts on survey respondents, as seen in mental health outcomes.
Method: a community survey sample recruited with support from the local council comprised 75% mothers/pregnant women, 25% fathers/partners of pregnant women. Reflecting the borough population, 35 percent were White British or Irish and 36 percent were Bangladeshi, and the remainder were from a wide range of ethnic backgrounds. Adopting an assets based approach, we describe material, familial and community assets using three household income bands and seven ethnic groups. We then use regressions to identify which assets were most important in mitigating adversity.
Results: We find that material assets (income, employment, food insecurity, housing quality) were often insecure and in decline but familial assets (home caring practices, couple relationships) were largely sustained. Community assets (informal support, service provision) were less available or means of access had changed. Our analyses find that while descriptively ethnicity structured adverse impacts of the pandemic related changes to family life, income and couple relationships were the most important assets for mitigating adversity as seen in mental health status.
Conclusion: Supporting family assets will require close attention to generating local and decent work as well as enhancing access to community assets.
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Kropski, Jonathan A., Timothy S. Blackwell i James E. Loyd. "The genetic basis of idiopathic pulmonary fibrosis". European Respiratory Journal 45, nr 6 (2.04.2015): 1717–27. http://dx.doi.org/10.1183/09031936.00163814.
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Throughout the past decade, there have been substantial advances in understanding the pathogenesis of idiopathic pulmonary fibrosis (IPF). Recently, several large genome-wide association and linkage studies have identified common genetic variants in more than a dozen loci that appear to contribute to IPF risk. In addition, family-based studies have led to the identification of rare genetic variants in genes related to surfactant function and telomere biology, and mechanistic studies suggest pathophysiological derangements associated with these rare genetic variants are also found in sporadic cases of IPF. Current evidence suggests that rather than existing as distinct syndromes, sporadic and familial cases of IPF (familial interstitial pneumonia) probably reflect a continuum of genetic risk. Rapidly evolving bioinformatic and molecular biology techniques, combined with next-generation sequencing technologies, hold great promise for developing a comprehensive, integrated approach to defining the fundamental molecular mechanisms that underlie IPF pathogenesis.
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Kirichek, A. A., L. N. Lyubchenko i V. B. Matveev. "Risk-adapted approach to prostate cancer screening". Cancer Urology 14, nr 2 (7.07.2018): 109–21. http://dx.doi.org/10.17650/1726-9776-2018-14-2-109-121.
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Mass prostatic specific antigen (PSA) testing (population-based PSA screening) has remained controversial, nevertheless there are men cohorts likely to benefit from PSA screening. Heritable factors contribute to 60 % risk for developing familial prostate cancer. Despite the fact that its clinical application is challenging due to polygenic inheritance, advances in new generation sequencing technologies permit identifying highly penetrant germline mutations in genes BRCA1, BRCA2, CHEK2, HOXB13 and MMR associated with tremendous increase in risk of developing the prostate cancer. Several germline mutations are associated with clinically aggressiveness of disease and shortened survival. Targeted screening that is based on family history and genomic aberrations should be the next step towards the precision medicine. Men at elevated risk should been performed for early detection are those with familiar history of prostate cancer, or BRCA1, BRCA2, CHEK2, HOXB13 and MMR pathogenic germline mutation carriers, or first line relatives diagnosed with certain types of cancer. Systematic PSA testing in 1–2 years among germline mutation carriers men beginning at age 45 years would contribute to increase in early detection of localized prostate cancer resulting in more chance of curative treatment and improve survival rates
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Rodríguez Triana, Zulema Elisa, i Jazmín Lorena Suárez Ortiz. "Escuelas familiares. Una experiencia favorecedora para el desarrollo humano". Revista Electrónica Interuniversitaria de Formación del Profesorado 22, nr 3 (11.09.2019): 127–38. http://dx.doi.org/10.6018/reifop.390161.
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La familia y la escuela son contextos de desarrollo para niños y niñas y, aunque comparten intencionalidades de formación, parecen caminar por senderos diferentes. Las escuelas familiares orientadas desde un enfoque de las capacidades y la corresponsabilidad sobre la base de los niños y niñas como titulares de derechos y actuadas mediante alternativas de formación y del fortalecimiento de la participación de la familia en la escuela son, desde la experiencia que deriva esta reflexión, una estrategia socioeducativa que favorece el desarrollo humano de los actores. Se asume una práctica investigativa construida a partir de la Investigación Acción Participante (IAP) en Manizales, Colombia con el acompañamiento de la Universidad de Caldas. Family and school are developmental contexts for boys and girls and, although they share training intentions, they seem to walk different paths. Family schools oriented from a capacities and co-responsibility approach based on children as holders of rights and acted on through training alternatives and strengthening family participation in school are, from the experience that derived this reflection, a socio-educational strategy that favors the human development of the actors. A research practice built from Participatory Action Research (PAR) is held in Manizales, Colombia with the support of the University of Caldas.
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Kılıçarslan, Suat, i Meral Atıcı. "An Analysis of Adolescent and Parental Views on the Psychoeducation Program for Coping with Aggressive Behaviors". Journal of Education and Training Studies 5, nr 6 (3.05.2017): 73. http://dx.doi.org/10.11114/jets.v5i6.2307.
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The aim of this study is to investigate the views of parents and adolescents who participated in psychoeducation programs for coping with adolescent aggressive behaviors. Parents who participated in the study were provided with a program known as the “Non-Violent Resistance Parent Program,” and adolescents participated in the “Coping with Violence and Aggression Psychoeducation Program.” Both programs were designed based on systemic family therapy theories. The views of participating parents and adolescents were obtained through a semi-structured interview form developed by the researchers. The interviews were subsequently analyzed using content analysis methods.After the programs’ culmination, participants stated that the programs reduced aggressive behaviors seen in adolescents, improved parents' parenting skills and family relationships, and significantly decreased parental inefficacy and stress levels. Results of the analysis of qualitative data obtained from interviews indicated that adolescents and parents generally benefitted from the programs, experienced positive emotions in the process, and gained significant awareness about their interaction styles and those of other family members. It was stated that conducting the two programs simultaneously was very helpful, for the participants reportedly experienced closer familial relationships as well as changes in their approach to problems. On the other hand, the participants noted that the program had some weaknesses: they sometimes had difficulty in expressing themselves and restoring family relationships in the process; fathers’ absence in the program was challenging for them; and the process did not have much contribution to spousal relationships. Based on these results, it is recommended that these programs should be conducted with parental cooperation in all institutions providing service to adolescents, particularly in schools. Both the improvement of parenting skills and the establishment of constructive and warm familial ties have the potential for reducing violent and aggressive behaviors in adolescents.
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Bouayed Abdelmoula, N., B. Abdelmoula, S. Kammoun, F. Abid i S. Aloulou. "Psychological benefits of pre-conceptional and pre-marital genetic diagnosis in conservative societies". European Psychiatry 65, S1 (czerwiec 2022): S595—S596. http://dx.doi.org/10.1192/j.eurpsy.2022.1525.
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Introduction Preconceptional genetic diagnosis help couples of genetic disorders carrier risk making an informed reproductive decision. The risk is considerably higher for consanguineous couples. Premarital screening can also offers a crucial health assessment of soon-to-be married couples with genetic risk factors based on specific family history. However, such approach is not usually easy to manage in conservative societies, particularly when the affected family refuse to deliver the necessary information about the genetic condition considered as a taboo. Objectives Here, we addressed the psychological benefits of preconceptional and premarital genetic diagnosis through a retrospective study about the preconceptional diagnosis inquiries in our genetic counselling. Methods In order to assess requests for autosomal recessive disorders during ten years of our genetic counselling activity at the medical university of Sfax, we reviewed 2500 medical files. Results Three couples were recorded for genetic preconceptional diagnosis. Another couple was documented for seeking a premarital screening for an unknown neuropathy before wedding engagement decision. This single case was referred to us because of a familial history of a severe neuropathy that was noted in the offspring of a shared cousin. The couple was unable to bring us more information about the genetic condition because of the familial repugnance. Conclusions Although our study is limited at the genetic level, it could be socially interesting because it showed the negative attitudes of the general population towards the genetic conditions and the familial responsiveness, as well as the reticence of physicians towards genetic preconceptional and premarital carrier diagnosis. Disclosure No significant relationships.
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Fiorati, Regina Celia, i Valeria Meirelles Carril Elui. "Social determinants of health, inequality and social inclusion among people with disabilities". Revista Latino-Americana de Enfermagem 23, nr 2 (kwiecień 2015): 329–36. http://dx.doi.org/10.1590/0104-1169.0187.2559.
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OBJECTIVE: to analyze the socio-familial and community inclusion and social participation of people with disabilities, as well as their inclusion in occupations in daily life. METHOD: qualitative study with data collected through open interviews concerning the participants' life histories and systematic observation. The sample was composed of ten individuals with acquired or congenital disabilities living in the region covered by a Family Health Center. The social conception of disability was the theoretical framework used. Data were analyzed according to an interpretative reconstructive approach based on Habermas' Theory of Communicative Action. RESULTS: the results show that the socio-familial and community inclusion of the study participants is conditioned to the social determinants of health and present high levels of social inequality expressed by difficult access to PHC and rehabilitation services, work and income, education, culture, transportation and social participation. CONCLUSION: there is a need to develop community-centered care programs in cooperation with PHC services aiming to cope with poverty and improve social inclusion.
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Marin-Sanabria, Elio Arnaldo, Tatsuya Nagashima, Kazuki Yamamoto, Yoshie Nakamura, Hideo Aihara i Eiji Kohmura. "Presacral Meningocele Associated with Hereditary Sacral Agenesis and Treated Surgically: Evaluation in Three Members of the Same Family". Neurosurgery 57, nr 3 (1.09.2005): E597. http://dx.doi.org/10.1227/01.neu.0000171836.67266.75.
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ABSTRACT OBJECTIVE AND IMPORTANCE: Presacral meningocele in hereditary sacral agenesis is a complex and unusual spinal dysgenetic syndrome. Recognition of the syndromic triad, its natural history, and familial presentation has important practical applications for the management of this disease as well as its complications. CLINICAL PRESENTATION: This report concerns three patients in one family with Currarino syndrome. We detail its clinical presentation, operative management, and outcome and suggest management procedures based on reports in the literature and the results of our surgical techniques, which focus on cases with an “incomplete” triad. INTERVENTION: Three members of the same family, one adult and two children, underwent surgery through the posterior sacral approach tying off the communication between dural sac and anterior meningocele. The adult underwent a second surgical procedure in which a custom-designed surgical technique was used to resolve postoperative cerebrospinal fluid leakage. One of the children underwent an additional posterior sagittal anorectoplasty to remove a presacral teratoma. CONCLUSION: We report a rare occurrence of three familial cases of sacral agenesis accompanied by a presacral mass with various degrees of phenotypic expression and with male dominant transmission. Because of its rarity, the best surgical technique and timing remain an open question especially in cases with incomplete triad syndrome.
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Gohar, Madiha, i Ayesha Abrar. "An Exploration of Women Owned Home-based Business Through Institutional Theory Lens: A Case of Peshawar, Pakistan". Journal of Applied Economics and Business Studies 6, nr 2 (30.06.2022): 33–54. http://dx.doi.org/10.34260/jaebs.623.
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This paper aims to explore the dynamics of women owned home-based businesses in the normative context of Peshawar. It helps to add to our understanding of how women create and manage their ventures and get legitimacy in a context where they live like second-class citizen with no rights. The study also highlights the impact of these ventures on their lives and household. A qualitative approach was used to explore the creation and management of women owned home-based businesses in the context of Peshawar. 20 women entrepreneurs were selected through purposive sampling technique. In-depth interviews were conducted to understand the lived experiences. Data was analyzed using thematic analysis. We have built on institutional theory to understand the creation and management of women owned home-based enterprises, which brought about unique insights into this ever-prevailing phenomenon. The findings of this study reveal that given the distinctive context of Peshawar, the role responsibilities of women are shaped through multiple socio-cultural and religious interpretations. Compliance to which, defines the grounds of negotiation for adopting an entrepreneurial career. This makes the venture creation a bounded phenomenon and highly dependent on the familial approval for which norms and values within normative context are negotiated. With familial approval, a home based women entrepreneur (HBWE) ensures her belongingness to the family mores. A legitimacy of HBWE is contingent upon the trust of the family members as an entrepreneur and home maker. At this level, she represents as role model by sharing control which enhances the cultural acceptability of home-based businesses (HBBs). This study has portrayed transition of HBWE through compliance, negotiating, belongingness, legitimacy, emancipation and empowerment.
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Hoeiberg, Christina, Stine Anne Jensen i Dan Grabowski. "Processes of Identification in Families Enrolled in a Childhood Obesity Intervention: A Qualitative Study of Identities and Roles". Obesities 2, nr 4 (30.09.2022): 326–41. http://dx.doi.org/10.3390/obesities2040027.
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Family involvement is important in interventions targeting childhood obesity. However, family-based interventions have limited impact. Being labeled obese or overweight and/or perceiving oneself as overweight is associated with weight gain over time. The links between weight perception, labelling, as well as individual and familial identities need to be studied more closely. This paper examines how dynamics of identity and identification within the family impact how the intervention is implemented into daily practices. The dataset consists of 15 semi-structured family interviews with a total of 15 children and 21 parents. The study showed an intense focus on the children’s weight and weight loss. Identification as overweight or obese determined how the members of the enrolled families approached the intervention. Children and other family members who identified themselves as being overweight or obese took more responsibility for their own health behavior, but not necessarily in a positive manner. This often resulted in conflicts within the families. Healthcare professionals working with childhood obesity interventions need to consider how to deal with family identity dynamics to secure support as different identities within the family predicts whether the family members find the intervention relevant and whether the intervention was implemented positively into daily life.
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Andersson, Matthew A. "A Discordance Weighting Approach Estimating Occupational and Income Returns to Education". Twin Research and Human Genetics 21, nr 3 (23.04.2018): 191–202. http://dx.doi.org/10.1017/thg.2018.20.
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Schooling differences between identical twins are often utilized as a natural experiment to estimate returns to education. Despite longstanding doubts about the truly random nature of within-twin-pair schooling discordance, such discordance has not yet been understood comprehensively, in terms of diverse between- and within-family peer, academic, familial, social, and health exposures. Here, a predictive analysis using national U.S. midlife twin data shows that within-pair schooling differences are endogenous to a variety of childhood exposures. Using discordance propensities, returns to education under a true natural experiment are simulated. Results for midlife occupation and income reveal differences in estimated returns to education that are statistically insignificant, suggesting that twin-based estimates of causal effects are robust. Moreover, identical and fraternal twins show similar levels of discordance endogeneity and similar responses to propensity weighting, suggesting that the identical twins may not provide demonstrably better leverage in the causal identification of educational returns.
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Cvrček, Jan, i Petr Velemínský. "Contribution to the study of frontal sinus familial similarity based on genealogically documented individuals (Bohemia, 19th to 20th centuries)". Journal of the National Museum (Prague), Natural History Series 189, nr 1 (2020): 21–30. http://dx.doi.org/10.37520/jnmpnhs.2020.004.
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The issue of the influence of biological relatedness on frontal sinus patterns is still the subject of discussion. Research possibilities worldwide are however limited by the lack of genealogically documented skeletal remains. This study presents the results of analyses of seven identified 19th-20th century skulls from two families, discovered in the collections of the Hrdlička Museum of Man. Anteroposterior X-rays were created and the morphology of the frontal sinuses was evaluated using two approaches: A) a simple visual assessment indicating shared or similar features; and B) calculation of the degree of similarity based on a scoring system. With both approaches, the results of family relationship assessments were best reflected in the first family, between individuals with the smallest degree of biological distance. In the second family, which had more distant relationships compared to the first, the positive relationship between biological distance and degree of similarity was not clearly apparent. Although this is a small sample with a small number of generations, our findings support the conclusions of previous studies, i.e. that the degree of similarity between individuals decreases with their increasing biological distance.
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Churpek, Jane E. "Inherited Predisposition to Myelodysplastic Syndrome and Acute Leukemia". Blood 124, nr 21 (6.12.2014): SCI—31—SCI—31. http://dx.doi.org/10.1182/blood.v124.21.sci-31.sci-31.
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Although generally thought of as pediatric conditions, inherited forms of myelodysplastic syndrome (MDS) and acute leukemia (AL) are increasingly recognized among adult patients. At present, at least nine genes, including ANKRD26, CEBPA, GATA2, PAX5, RUNX1, SRP72, TERC, TERT, and TP53, are known to cause familial MDS and/or AL syndromes. Several other promising candidate genes are emerging from ongoing research on the many pedigrees identified without a mutation in one of these already recognized genes. Clinical recognition of individuals with these syndromes is essential for optimal care of the patient and his/her at-risk family members and requires familiarity with the subtle clinical features of each syndrome and a high index of suspicion by the treating physician. Once recognized, genetic testing should be performed to identify the specific syndrome present as each can have unique aspects to their clinical care. For example, individuals with familial MDS/AL due to TERT or TERC abnormalities require monitoring of lung function and screening for head and neck and anogenital cancers, whereas individuals with platelet dysfunction due to familial platelet disorder/RUNX1 or ANKRD26 mutations require careful planning prior to surgical procedures to prevent bleeding complications. Due to significant overlap in the clinical presentation, often a multigene-based approach to genetic testing is necessary. Unique aspects of genetic testing in this population include: 1) tissue type selection as many of the genes that cause the familial MDS/AL syndromes are also somatically mutated in hematologic malignancies so results from DNA derived from peripheral blood or bone marrow in an individual with MDS or AL are difficult to interpret; and 2) urgency as allogeneic hematopoietic stem cell transplantation may be pursued quickly and requires knowledge of the specific mutation in the family to identify the optimal stem cell donor. The management of affected individuals who have not yet developed hematologic malignancies can be challenging as many may show morphologic signs of dysplasia in the bone marrow that may not truly represent overt malignancy. The decision of when to pursue allogeneic hematopoietic stem cell transplantation with curative intent is especially difficult. Ongoing research to define the specific events that trigger malignant transformation and how to optimally detect these events is underway. Practical algorithms for the clinical recognition, genetic testing, and management of individuals with these syndromes based on currently available knowledge as well as research seeking to improve the clinical care of these patients will be explored. A summary of the yield of next generation sequencing-based genetic testing strategies for familial presentations of MDS/AL will also be provided. Disclosures No relevant conflicts of interest to declare.
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Ndiaye, Amadou, i Yacouba Sangaré. "Exploitations Familiales de Production Agricole des Cercles de Niono et de Banamba (Mali): Caractérisation et Stratégies de Prise en Charge des Besoins en Rapport Avec L’intervention Pour le Développement Agricole et Rural". European Scientific Journal, ESJ 13, nr 13 (31.05.2017): 193. http://dx.doi.org/10.19044/esj.2017.v13n13p193.
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The development of family farming is an important strategic option to support the food needs of the rural and urban populations. This is the reason it has been the subject of several studies which is based on characterization and typology to better orientate agricultural and rural development interventions. This study was conducted to characterize family farm in Mali and to determine the strategies to satisfy the country’s needs in rapport with the implementation of rural development. In doing this, field data were first collected in the family farms at Niono County (Niger River valley) and the Banamba County. After data collection, it was then analyzed in a systemic way. This analysis helps to characterize the family farm of Mali as a “Traditional peasant farm”. In Niono County, ‘peasant family farm’ which ensures its food self-sufficiency is centered on the production unit with an option of diversification. In Banamba County, “peasant family farm’ centered on unity of consumption develops food security strategy through pluri-activity. Thus, despite the intensity of government intervention, particularly in the area of Niger River Valley, malian “peasant family farmg” did not turn into “Modern family farm business”. In doing this, intervention for agricultural and rural development should move based on its strategies and practices from a sectorial approach to a systemic approach. This passage from the deterministic and holistic paradigm to the systemic and interactionist paradigm, should better redefine agricultural education and agricultural subsidy in relation with the structure of production.
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Landolt, M. A., E. Ystrom, K. Stene-Larsen, H. Holmstrøm i M. E. Vollrath. "Exploring causal pathways of child behavior and maternal mental health in families with a child with congenital heart disease: a longitudinal study". Psychological Medicine 44, nr 16 (29.11.2013): 3421–33. http://dx.doi.org/10.1017/s0033291713002894.
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Background.A congenital heart defect (CHD) can increase the risk of mental health problems in affected children and their parents. The extent to which risk factors for these problems are shared in families or are specific to the individual family member is unclear.Method.Prospective data from the Norwegian Mother and Child Cohort Study (MoBa; n = 93 009) were linked with a nationwide CHD registry, and 408 children with CHD were identified. Mothers' reports on child internalizing problems and their own distress were assessed by questionnaires at child ages 6, 18 and 36 months. A structural model was applied to distinguish between familial (shared) factors and individual-specific factors for mental health problems.Results.CHD was a substantial risk factor for problems in children and their mothers at all time points. CHD contributed on average 31% and 39% to the variance in children's and mothers' problems respectively. Both shared familial and individual-specific factors unique to CHD families contributed to risk for mental health problems. Whereas individual-specific risk factors contributed to the stability of problems in mothers, the effect of these factors lasted only a short time in children. Mutual influences over time were found between the mother's and the child's mental health at 18 and 36 months.Conclusions.The burden of CHD in a child is shared between family members but is also specific to the individual. This study points to a need for both an individual and a family-based approach to provide psychological support to children with CHD and their parents.
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Bjelakovic, Bojko, Claudia Stefanutti, Željko Reiner, Gerald F. Watts, Patrick Moriarty, David Marais, Kurt Widhalm, Hofit Cohen, Mariko Harada-Shiba i Maciej Banach. "Risk Assessment and Clinical Management of Children and Adolescents with Heterozygous Familial Hypercholesterolaemia. A Position Paper of the Associations of Preventive Pediatrics of Serbia, Mighty Medic and International Lipid Expert Panel". Journal of Clinical Medicine 10, nr 21 (25.10.2021): 4930. http://dx.doi.org/10.3390/jcm10214930.
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Heterozygous familial hypercholesterolaemia (FH) is among the most common genetic metabolic lipid disorders characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth and a significantly higher risk of developing premature atherosclerotic cardiovascular disease. The majority of the current pediatric guidelines for clinical management of children and adolescents with FH does not consider the impact of genetic variations as well as characteristics of vascular phenotype as assessed by recently developed non-invasive imaging techniques. We propose a combined integrated approach of cardiovascular (CV) risk assessment and clinical management of children with FH incorporating current risk assessment profile (LDL-C levels, traditional CV risk factors and familial history) with genetic and non-invasive vascular phenotyping. Based on the existing data on vascular phenotype status, this panel recommends that all children with FH and cIMT ≥0.5 mm should receive lipid lowering therapy irrespective of the presence of CV risk factors, family history and/or LDL-C levels Those children with FH and cIMT ≥0.4 mm should be carefully monitored to initiate lipid lowering management in the most suitable time. Likewise, all genetically confirmed children with FH and LDL-C levels ≥4.1 mmol/L (160 mg/dL), should be treated with lifestyle changes and LLT irrespective of the cIMT, presence of additional RF or family history of CHD.
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Wan Chik, Wan Mohd Yusuf, Abdul Wahab Ali, Engku Ahmad Zaki Engku Alwi, Abdullah Alqari Mohd Zabudin i Lateefah Kasamasu. "[Sa'id Hawwa's Writing Method on Islamic Family Through His Work Qawanin Al-Bayt Al-Muslim] Metod Penulisan Sa‘Id Hawwa Berhubung Kekeluargaan Islam Menerusi Karyanya Qawanin Al-Bayt Al-Muslim". Jurnal Islam dan Masyarakat Kontemporari 17, nr 1 (31.05.2018): 61–70. http://dx.doi.org/10.37231/jimk.2018.17.1.263.
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Islam is a religion that put family well-being as one of its priorities. The discourse regarding attitudes and laws in family has long been explained in great length in Islamic familial literatures. However, the focus of the discourse usually inclines towards juridical aspect and general values. It is quite uncommon to find a writing that is authored in policy form which can be utilised as a guideline by the family. Sa‘id Hawwa is a prominent Muslim preachers who was famous for his methodological approach in writing about familial matters. This study aims to run a content analysis on Sa‘id Hawwa’s methodological writing in his Qawanin al-Bayt al-Muslim. This qualitative study utilises inductive, deductive and comparative method. This study finds that Sa‘id Hawwa’s approach very relevant to be applied in other writings on family. This is beacause he uses relax writing style, simple phrasings, avoiding denominational issues and moderate stand when discussing Sufism and denominational indifferences. Said Hawwa also explains using examples and he offers solutions besides using a narrative approach of storytelling based on his own experience. Not only is this approach proper with the need of the today’s society, it should be considered as a guideline for modern preachers in addressing the people they call.
Keywords: Methods of writing, Islamic Family, Sa‘id Hawwa, Qawanin al-Bayt al-Muslim
Islam adalah sebuah agama yang sangat mementingkan kesejahteraan keluarga. Perbahasan berhubung tatatertib dan undang-undang dalam sebuah keluarga telah dibahaskan dengan panjang lebar dalam kitab-kitab kekeluargaan Islam. Tumpuan perbahasan biasanya menjurus kepada aspek hukum dan nilai-nilai umum. Jarang sekali ia disusun dalam bentuk perlembagaan ataupun polisi yang boleh dijadikan satu garis panduan sesebuah keluarga. Antara tokoh pendakwah Islam yang terkenal dengan keberkesanan metod dalam penulisan berhubung kekeluargaan ialah Said Hawwa. Justeru kajian ini akan membuat analisis kandungan terhadap metode penulisan beliau menerusi bukunya Qawanin al-Bayt al-Muslim. Kajian bersifat kualitatif ini menggunakan metode induktif, deduktif serta komparatif. Hasilnya, kajian mendapati metode yang digunakan Saad Hawwa ini sangat relevan untuk diaplikasikan dalam penulisan kekeluargaan yang lain. Penulisan beliau yang mudah, ringkas serta padat bukan sahaja dilihat menepati kehendak masyarakat sekarang bahkan ia boleh dijadikan panduan kepada para pendakwah moden dalam berhadapan dengan mad’u mereka.
Kata kunci: Metode Penulisan, Kekeluargaan Islam, Sa‘id Hawwa, Qawanin al-Bayt al-Muslim.
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Ding, Song-Ze, Yi-Qi Du, Hong Lu, Wei-Hong Wang, Hong Cheng, Shi-Yao Chen, Min-Hu Chen i in. "Chinese Consensus Report on Family-BasedHelicobacter pyloriInfection Control and Management (2021 Edition)". Gut 71, nr 2 (26.11.2021): 238–53. http://dx.doi.org/10.1136/gutjnl-2021-325630.
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Objective Helicobacter pyloriinfection is mostly a family-based infectious disease. To facilitate its prevention and management, a national consensus meeting was held to review current evidence and propose strategies for population-wide and family-basedH. pyloriinfection control and management to reduce the related disease burden. Methods Fifty-seven experts from 41 major universities and institutions in 20 provinces/regions of mainland China were invited to review evidence and modify statements using Delphi process and grading of recommendations assessment, development and evaluation system. The consensus level was defined as ≥80% for agreement on the proposed statements. Results Experts discussed and modified the original 23 statements on family-basedH. pyloriinfection transmission, control and management, and reached consensus on 16 statements. The final report consists of three parts: (1)H. pyloriinfection and transmission among family members, (2) prevention and management ofH. pyloriinfection in children and elderly people within households, and (3) strategies for prevention and management ofH. pyloriinfection for family members. In addition to the ‘test-and-treat’ and ‘screen-and-treat’ strategies, this consensus also introduced a novel third ‘family-basedH. pyloriinfection control and management’ strategy to prevent its intrafamilial transmission and development of related diseases. Conclusion H. pyloriis transmissible from person to person, and among family members. A family-basedH. pyloriprevention and eradication strategy would be a suitable approach to prevent its intra-familial transmission and related diseases. The notion and practice would be beneficial not only for Chinese residents but also valuable as a reference for other highly infected areas.
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Krishna, Lalit RK. "Best interests determination within the Singapore context". Nursing Ethics 19, nr 6 (30.04.2012): 787–99. http://dx.doi.org/10.1177/0969733011433316.
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Familialism is a significant mindset within Singaporean culture. Its effects through the practice of familial determination and filial piety, which calls for a family centric approach to care determination over and above individual autonomy, affect many elements of local care provision. However, given the complex psychosocial, political and cultural elements involved, the applicability and viability of this model as well as that of a physician-led practice is increasingly open to conjecture. This article will investigate some of these concerns before proffering a decision-making process based upon a multidisciplinary team approach. It will be shown that such a multidimensional and multiprofessional approach is more in keeping with the inclusive and patient-centred ethos of palliative care than prevailing practices. It will be shown that such an approach will also be better placed to deliver holistic, coherent and sensitive end-of-life care that palliative care espouses.
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Marett, Emily, Laura Marler i Kent Marett. "Socioemotional wealth importance within family firm internal communication". Journal of Family Business Management 8, nr 1 (9.04.2018): 22–37. http://dx.doi.org/10.1108/jfbm-08-2017-0022.
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Purpose One of the key characteristics that distinguishes the family business from other firms is the importance of accruing and maintaining socioemotional wealth (SEW). Using an experimental design, this exploratory study investigates the communication practices of family business leaders responding to employees responsible for a business disruption. The purpose of this paper is to determine whether managers take action to protect SEW while responding to a crisis. Design/methodology/approach Three employees of a family firm participated in the experiment. A family member employee and a non-family employee were instructed to write a message informing a family member leader of a business disruption they created (infecting a computer with malware). The family member leader then received these messages and wrote a response to each employee. These responses were then content analyzed to determine whether messages expressed SEW importance and to see if SEW content differed based on the recipient’s familial status. Findings Content analysis of messages intended for family members and non-family employees indicated that messages intended for family members contain significantly different content associated with dimensions of Socioemotional Wealth Importance scale, particularly in terms of reinforcing family dominance, sustaining family continuity, and maintaining family enrichment. Originality/value This study is the first to examine crisis communication within the family firm and whether SEW endowment occurs via internal communication within the family firm. By utilizing an experiment, this study extends the SEW literature further by adding to the diversity of techniques utilized to study this topic.
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Basu, Saurav, i Suneela Garg. "The barriers and challenges toward addressing the social and cultural factors influencing diabetes self-management in Indian populations". Journal of Social Health and Diabetes 05, nr 02 (grudzień 2017): 071–76. http://dx.doi.org/10.1055/s-0038-1676245.
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AbstractPatient adherence to recommended diabetes self-care practices reduces the risk of diabetic complications. However, most clinic-based approaches have proved inadequate in maintaining optimal diabetic self-management and the prevention of undesirable health outcomes at the population level among disadvantaged populations. Several sociocultural factors influence patient adherence to diabetic self-care practices which should be recognized and addressed by the health-care provider, especially in lower socioeconomic status and women patients. The lack of physician empathy and tendency to assign blame upon diabetic patients for the failure of adherence without recognizing the complex sociocultural factors influencing patient behavior can undermine the possibilities for better management. The enlistment of familial support when available is valuable for improving medical adherence and health outcomes in vulnerable diabetic patients with low health literacy. Young unmarried women with diabetes are particularly at risk of diabetes stigma eroding familial support and marital prospects require need effective health communication along with their family. Moreover, women with diabetes have a greater likelihood of compromising their dietary needs for the sake of their familial dietary preferences. The inability of patients to comply with recommended exercise regimen may be derived from environmental factors; primarily unsafe neighborhoods, lack of availability of nearby recreational facilities such as public parks, and cultural resistance in patriarchal social environments. Policy approaches for improving diabetes management in disadvantaged diabetic populations should consider mandatory registration, assured diabetic medication, and follow-up in case of missed appointments. Community mobilization for overcoming societal stigma against women with diabetes also persists as a formidable challenge.