scholarly journals MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation

2014 ◽  
Vol 41 (2) ◽  
pp. 210-219 ◽  
Author(s):  
M. Prasad ◽  
B. Narayan ◽  
A.N. Prasad ◽  
C.A. Rupar ◽  
S. Levin ◽  
...  
Keyword(s):  
Maternal Inheritance ◽  
Extended Family ◽  
Family Members ◽  
Strong Support ◽  
Radiological Findings ◽  
Laboratory Findings ◽  
Clinical Presentations ◽  
The Family ◽  
Generation Family ◽  
Pathological Material

Background:the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized.Methods:retrospective and ongoing study of an extended family carrying the MTTL1 A3243G mutation with multiple symptomatic individuals. tissue heteroplasmy is reviewed based on the clinical presentations, imaging studies, laboratory findings in affected individuals and pathological material obtained at autopsy in two of the family members.Results:there were seven affected individuals out of thirteen members in this three generation family who each carried the MTTL1 A3243G mutation. the clinical presentations were varied with symptoms ranging from hearing loss, migraines, dementia, seizures, diabetes, visual manifestations, and stroke like episodes. three of the family members are deceased from MelaS or to complications related to MelaS.Conclusions:the results of the clinical, pathological and radiological findings in this family provide strong support to the current concepts of maternal inheritance, tissue heteroplasmy and molecular pathogenesis in MelaS. neurologists (both adult and paediatric) are the most likely to encounter patients with MelaS in their practice. genetic counselling is complex in view of maternal inheritance and heteroplasmy. newer therapeutic options such as arginine are being used for acute and preventative management of stroke like episodes.

This Seed Will Bear No Fruit

2019 ◽  
pp. 262-283
Author(s):  
Friday A. Eboiyehi
Keyword(s):  
Older People ◽  
Family System ◽  
Extended Family ◽  
Family Members ◽  
Developed Countries ◽  
Western World ◽  
Continuous Increase ◽  
The Family ◽  
The Developed Countries ◽  
Old People's Homes

The continuous increase in the number of older people and the gradual erosion of the extended family system which used to cater to them are alarming. While older people in much of the developed countries have embraced old people's homes as an alternative, the same cannot be said of older people in Nigeria who still believed that it is the duty of the family to accommodate them. The chapter examined the perception of older people about living in old people's home in some selected local government areas in Osun State, Nigeria. The study showed that their perception about living in old people's home was poor as many of them still held on to the belief that it was the responsibility of their family members to house them as it was done in the olden days. Although a few of the interviewees (particularly those who are exposed to what is obtained in the Western world and those with some level of education) had accepted the idea, many preferred to live with their family rather than being dumped in “an isolated environment,” where they would not have access to their family members. Pragmatic policy options aimed at addressing this emerging social problem were highlighted.

scholarly journals Senior Citizens and Their Roles in Family and Household

2020 ◽  
Vol 13 (2) ◽  
pp. 32
Author(s):  
S. M. Ayoob
Keyword(s):  
Living Arrangements ◽  
Extended Family ◽  
Senior Citizens ◽  
Family Members ◽  
Active Role ◽  
Social Recognition ◽  
Family Type ◽  
Role Taking ◽  
The Family ◽  
Family And Household

The family is considered as the most important and outstanding primary group in the society. The extended family type is diminishing in the modern era due to multiple and unavoidable reasons. However in some countries, people give their support to preserve extended family system at least keeping their senior citizens in the same household. Senior citizens also play active roles by supporting the family members in numerous ways. This study was conducted to identify the living arrangements, roles played by the senior citizens in family and household and the reasons behind the active role taking behavior among senior citizens. Out of 20 Divisional Secretariat Divisions in Ampara district, 08 Divisional Secretariat Divisions where Muslims predominantly live have been selected as the study area using simple random sampling method. The sample size is 392. The primary data was collected from key informant interviews, case studies and focus group discussions. The study highlighted that 95% of the senior citizens in the study area are living with their family members. Maintaining household activities, guiding the family members, providing counselling, providing security, socialization, mediating, providing monetary support and mobile role are the major roles played by senior citizens. The reasons for this active role taking behaviour are physical fitness and healthy lifestyle of senior citizens, disaster situation, economic condition, loneliness and isolation, lack of organizational structure and social recognition in study area. Beyond their old age, the contribution of senior citizens to the family is immeasurable.

scholarly journals Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family

Blood ◽  
2000 ◽  
Vol 96 (4) ◽  
pp. 1443-1448 ◽  
Author(s):  
Elisabetta Castoldi ◽  
Paolo Simioni ◽  
Michael Kalafatis ◽  
Barbara Lunghi ◽  
Daniela Tormene ◽  
...  
Keyword(s):  
Messenger Rna ◽  
Family Members ◽  
Causative Role ◽  
Laboratory Findings ◽  
Prothrombinase Complex ◽  
Apc Resistance ◽  
Genetic Components ◽  
The Family ◽  
Molecular Bases

Abstract The study of the molecular bases of thrombophilia in a large family with 4 symptomatic members is reported. Three thrombophilic genetic components (FV R506Q, FV H1299R, and PT 20210G/A), all affecting the activity of the prothrombinase complex, were detected alone and in combination in various family members. In addition, a newly identified missense mutation (factor V [FV] Y1702C), causing FV deficiency, was also present in the family and appeared to enhance activated protein C (APC) resistance in carriers of FV R506Q or FV H1299R by abolishing the expression of the counterpart FV allele. The relationships between complex genotypes, coagulation laboratory findings, and clinical phenotypes were analyzed in the family. All symptomatic family members were carriers of combined defects and showed APC resistance and elevated F1 + 2 values. Evidence for the causative role of the FV Y1702C mutation, which affects a residue absolutely conserved in all 3 A domains of FV, factor VIII, and ceruloplasmin, relies on (1) the absolute cosegregation between the mutation and FV deficiency, both in the family and in the general population; (2) FV antigen and immunoblot studies indicating the absence of Y1702C FV molecules in plasma of carriers of the mutation, despite normal levels of the FV Y1702C messenger RNA; and (3) molecular modeling data that support a crucial role of the mutated residue in the A domain structure. These findings help to interpret the variable penetrance of thrombosis in thrombophilic families and to define the molecular bases of FV deficiency.

Family, Loss, and Change

2018 ◽  
pp. 221-232
Author(s):  
Katherine R. Allen
Keyword(s):  
Nuclear Family ◽  
Extended Family ◽  
Family Members ◽  
Relationship Dissolution ◽  
Same Sex ◽  
The Family ◽  
Family Loss ◽  
Legal Marriage

Same-sex relationship dissolution has reverberations for individuals beyond the nuclear family. This chapter discusses a lesbian-parent family, consisting of two moms and two kids—when it broke up nearly two decades ago, many other family members, including the donor and his husband, were deeply affected. This chapter reflects on this experience from the author’s perspective of a family scholar and an activist for LGBTQ family rights. In the absence of legal marriage and thus legal divorce, family lives turned out in ways that even the most careful, deliberate efforts could not anticipate nor protect. The experiences described highlight many losses and regrets, despite the intentional love and concern for all of the parents, children, and extended family members involved. These reflections on this experience are intended to honor the family as it once was and the families they have become.

The Origins and Development of Socioemotional Wealth Within Next-Generation Family Members: An Interpretive Grounded Theory Study

2019 ◽  
Vol 32 (4) ◽  
pp. 396-424 ◽  
Author(s):  
Linda Murphy ◽  
Jolien Huybrechts ◽  
Frank Lambrechts
Keyword(s):  
Grounded Theory ◽  
Family Members ◽  
Theory Approach ◽  
Next Generation ◽  
Socioemotional Wealth ◽  
Life Paths ◽  
The Family ◽  
Generation Family ◽  
Key Events ◽  
Grounded Theory Approach

Adopting an interpretive grounded theory approach, we find that key events in the early lives of next-generation family members fuel a sense of belonging and identity, which lies at the heart of their socioemotional wealth. As next-generation family members interact more with the family business, they interpret nonfinancial aspects of the firm as an answer to a larger variety of affective needs, which broadens and strengthens their interactive socioemotional wealth frame of mind. In line with our life course theory lens, we observe how key events that build up socioemotional wealth greatly influence the life paths of next-generation family members.

The Comforter: Providing Personal Advice and Emotional Support to Generations in the Family

1987 ◽  
Vol 6 (3) ◽  
pp. 228-240 ◽  
Author(s):  
Carolyn J. Rosenthal
Keyword(s):  
Random Sample ◽  
Emotional Support ◽  
Extended Family ◽  
Family Members ◽  
Social Correlates ◽  
The Past ◽  
The Social ◽  
The Family ◽  
Personal Advice ◽  
Intergenerational Families

ABSTRACTThis paper presents a novel conceptualization of emotional support in intergenerational families. In a stratified random sample of 458 adults in Hamilton, Ontario, over half the respondents said that there was currently, or had been in the past, a person in their family to whom other family members turned for emotional support and personal advice. In the paper, this person is referred to as the “comforter.” Many people also identified the person who provided emotional support prior to the present comforter. On the basis of the data, a “position” of family comforter is inferred. The paper investigates the social correlates of the position, the type of activities associated with being the family comforter, and the pattern of succession as different generations in the family move in and out of the position. The paper demonstrates the family provision of emotional support at the level of the extended family. It is shown that occupancy, activities and succession of the comforter position are patterned by gender. Further, the data suggest that people seek emotional support from a generational peer.

Gypsies and Acute Medical Intervention

PEDIATRICS ◽  
1983 ◽  
Vol 72 (5) ◽  
pp. 731-735
Author(s):  
Randall C. Wetzel ◽  
J. Michael Dean ◽  
Mark C. Rogers
Keyword(s):  
Intensive Care Unit ◽  
Extended Family ◽  
Family Members ◽  
Terminally Ill ◽  
Pediatric Intensive Care ◽  
Hospital Staff ◽  
Medical Intervention ◽  
Family Unit ◽  
The Family ◽  
Acute Medical Care

Recently, a 7-month-old, terminally ill Gypsy infant was admitted to a pediatric intensive care unit. Treating this child and her extended family was a challenging experience during which numerous culture-related problems were encountered. The Gypsy approach to acute medical care consisted of the presence of a large extended family unit, the lack of decision making by the patient's parents, and several different Gypsy traditions. There were diverse, and often derogatory, reactions and prejudices from the hospital staff. After interviewing family members, this family's needs were easier to understand, and interaction with them in culturally relevant terms was possible. When dealing with Gypsy families, identification of the responsible elder male members of the family, establishment of firm lines of communication with essential family members and the parents, and education of the medical staff concerning Gypsies are recommended.

Penerapan Komunikasi Terapeutik terhadap Pelaksanaan Family Psychoeducation pada Extended Familydengan Hipertensi: Laporan Kasus

2019 ◽  
Vol 12 (2) ◽  
Author(s):  
Siti Hajar Salawali ◽  
Herni Susanti
Keyword(s):  
Case Report ◽  
Extended Family ◽  
Case Reports ◽  
Family Members ◽  
Active Listening ◽  
Family Psychoeducation ◽  
Therapeutic Communication ◽  
Extended Families ◽  
Communication Techniques ◽  
The Family

Abstrak Pelaksanaan terapi family psychoeducation pada extended familydengan hipertensitidak dapat dipandang sebelah mata. Keluarga yang merawat anggota keluarga dengan hipertensi memiliki resiko mengalami beban dan seluruh beban yang dirasakan oleh keluarga merupakan stresor yang harus dihadapioleh seluruh anggota keluarga bersama-sama. Perawat yang terlibat dalam upaya perawatan kepada klien juga harus memperhatikan masalah yang dihadapi oleh keluarga. Salah satu upaya yang dapat dilakukan untuk mengatasi beban dengan pemberian terapi family psychoeducation.Metode yang digunakan adalah laporan kasus. Laporan kasus ini menjadi yang pertama kalinya bagaimana penerapan komunikasi terapeutik terhadap family psychoeducation pada extended family dengan hipertensi dilakukan serta disajikan dalam bentuk laporan kasus. Penulis melakukan terapi sebanyak 6 sesi dengan menggabungkan menggunakan tekhnik komunikasi terapeutik. Hasil studi ini didapatkan bahwa terapifamily psychoeducation dan penggunaan komunikasi terapeutik dapat digunakan sebagai cara untuk menyelesaiakan masalah dalam keluarga yang merawat anggota keluarga dengan penyakit fisik (seperti hipertensi) pada kondisi dengan extended family, dimana dalam melaksanaan family psychoeducation, perawat lebih menggunakan tekhnik komunikasi terapeutik terutama pada sesi 3 yaitu manajemen stres dan sesi 4 yaitu manajemen beban keluarga. Tekhnik komunikasi terapeutik yang lebih sering digunakan penulis dalam pemberian family psychoeducation pada keluarga dengan kondisi extended familyyaitu mendengarkan aktif dan mengulang, klarifikasi dan fokus, refleksi dengan menunjukkan rasa empati dan rasa hormat, menggunakan humor, dan diam serta sesekali memberikan sentuhan yang terapeutik.Kata Kunci: Komunikasi Terapeutik, Psikoedukasi Keluarga, Keluarga Besar, Hipertensi Application of Therapeutic Communication to the Implementation of Family Psychoeducation at Extended Family with Hypertension: Case Report AbstractThe implementation of family psychoeducation therapy in extended families with hypertension cannot be underestimated. Families who care for family members with hypertension have a risk of experiencing the burden and all the burden felt by the family is a stressor that must be faced by all family members together. Nurses who are involved in care efforts to clients must also pay attention to problems faced by the family. One of the efforts that can be done to overcome the burden of therapy is family psychoeducation. The method used is a case report. This case report is the first time how the application of therapeutic communication to family psychoeducation in the extended family with hypertension is carried out and presented in the form of case reports. The author did therapy for 6 sessions by combining using therapeutic communication techniques. The results of this study found that family psychoeducation therapy and the use of therapeutic communication can be used as a way to solve family problems that treat family members with physical illness (such as hypertension) in conditions with extended families, where in implementing family psychoeducation, nurses use therapeutic communication techniques. especially in session 3, stress management and session 4, namely family burden management. Therapeutic communication techniques that are more often used by writers in giving family psychoeducation to families with extended family conditions, namely active listening and repetition, clarification and focus, reflection by showing empathy and respect, using humor, and being quiet and occasionally giving a therapeutic touch.Keywords: Comunication Therapeutic, Family Psychoeducation, Extended Family, Hipertention

Support

2019 ◽  
pp. 123-140 ◽  
Author(s):  
Susan Kay-Flowers
Keyword(s):  
Extended Family ◽  
Family Members ◽  
Late Childhood ◽  
Parental Separation ◽  
Wide Range ◽  
The Family ◽  
Sources Of Support

This chapter outlines the support available to children at the time of their parents’ separation and post separation changes. It explains how some children had access to support from their parent(s) and other members of their family, particularly grandmothers. In some cases children were supported by a wide range of extended family members including aunts, uncles and cousins. In contrast some children identified no one who supported them at this time. Children’s access to support within the family is examined in relation to its impact on their accommodation of parental separation. Their opportunity to talk to someone about their parents’ separation is also examined. Respondents identified fewer people they were able to talk to than sources of support but many were able to talk to parent(s) particularly their resident parent. Siblings were often identified as someone children could talk to rather than sources of support. Friends were particularly important to those in late childhood and teenage years. Some children spoke to professionals about their parents’ separation, the level of accommodation they showed varied according to who they spoke to and the opportunity to exercise agency in these discussion appeared to be a significant factor.

scholarly journals The determinants of the readiness to let go among senior generation owner-managers of small and medium-sized family businesses

2010 ◽  
Vol 13 (3) ◽  
pp. 293-315 ◽  
Author(s):  
Stephan P Van der Merwe
Keyword(s):  
Small Businesses ◽  
Family Members ◽  
Family Businesses ◽  
Oblique Rotation ◽  
Five Factors ◽  
The Family ◽  
Generation Family ◽  
Eigen Values ◽  
Younger Generation ◽  
And Control

The objective of this study was to assess the determinants of the readiness of the senior generation owner-managers to finally transfer the management and control of the family business to the younger generation. Data from 504 questionnaires linked to 81 family businesses were collected and analysed. An Oblimin oblique rotation was carried out on the principal components of the exploratory factor analysis. Five factors with eigen-values greater than one, explaining 62.64 per cent of the variance, were extracted. These five factors describing the theoretical dimensions of the dependent variable were: the senior generation owner-manager’s readiness to let go, and the independent variables of retirement planning, perceived suitability of the successor, estate planning, and the perceived liquidity of the business after the transfer. No significant practical differences relating to these five factors could be found between the perceptions of male and female respondents, the senior and younger generation family members or family members involved in medium-sized or small businesses. Practical recommendations are suggested to ensure a smooth final transfer of the management and control of the business to the younger generation family members.

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