scholarly journals Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early‐onset dementia

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Izadora Fonseca Zaiden Soares ◽  
Denise Maria Christofolini ◽  
Lis Gomes Silva ◽  
David Feder ◽  
Alzira Alves Siqueira Carvalho
Keyword(s):  
Early Onset ◽  
Xeroderma Pigmentosum ◽  
Complex Phenotype ◽  
Early Onset Dementia ◽  
Variant Type ◽  
Novel Variants

scholarly journals Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Muhammad Usman Rashid ◽  
Noor Muhammad ◽  
Faiz Ali Khan ◽  
Umara Shehzad ◽  
Humaira Naeemi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Familial Breast Cancer ◽  
High Performance ◽  
Breast Cancer Patients ◽  
Germline Variants ◽  
Variants Of Unknown Significance ◽  
Breast Cancer Predisposition ◽  
Novel Variants

Abstract Background The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls. Conclusions Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.

A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement

2020 ◽  
Vol 86 ◽  
pp. 201.e1-201.e7 ◽  
Author(s):  
Xiantao Li ◽  
Yimin Sun ◽  
Lingyun Gong ◽  
Li Zheng ◽  
Keliang Chen ◽  
...  
Keyword(s):  
Early Onset ◽  
Bone Involvement ◽  
Homozygous Mutation ◽  
Early Onset Dementia

Interdisciplinary Clinic for Adults with Early Onset Dementia in a Mental Health NHS Trust

2006 ◽  
Vol 29 (4) ◽  
pp. 99-104
Author(s):  
S. B. N. Thompson ◽  
T. D. Coates ◽  
F. Chaâbane ◽  
P. Cherry ◽  
L. Collins ◽  
...  
Keyword(s):  
Mental Health ◽  
Early Onset ◽  
Early Onset Dementia

scholarly journals Unmet support needs of early-onset dementia family caregivers: a mixed-design study

BMC Nursing ◽  
2014 ◽  
Vol 13 (1) ◽  
Author(s):  
Francine Ducharme ◽  
Marie-Jeanne Kergoat ◽  
Renée Coulombe ◽  
Louise Lévesque ◽  
Pascal Antoine ◽  
...  
Keyword(s):  
Family Caregivers ◽  
Early Onset ◽  
Support Needs ◽  
Mixed Design ◽  
Design Study ◽  
Early Onset Dementia

Caregivers' perspectives on the pre-diagnostic period in early onset dementia: a long and winding road

2011 ◽  
Vol 23 (9) ◽  
pp. 1393-1404 ◽  
Author(s):  
Deliane van Vliet ◽  
Marjolein E. de Vugt ◽  
Christian Bakker ◽  
Raymond T. C. M. Koopmans ◽  
Yolande A. L. Pijnenburg ◽  
...  
Keyword(s):  
Social Context ◽  
Health Care Professionals ◽  
Early Onset ◽  
Late Onset ◽  
Structured Interviews ◽  
Early Onset Dementia ◽  
The Social ◽  
The Family ◽  
Constant Comparative Analysis ◽  
Financial Issues

ABSTRACTBackground: Recognizing and diagnosing early onset dementia (EOD) can be complex and often takes longer than for late onset dementia. The objectives of this study are to investigate the barriers to diagnosis and to develop a typology of the diagnosis pathway for EOD caregivers.Methods: Semi-structured interviews with 92 EOD caregivers were analyzed using constant comparative analysis and grounded theory. A conceptual model was formed based on 21 interviews and tested in 29 additional transcripts. The identified categories were quantified in the whole sample.Results: Seven themes emerged: (1) changes in the family member, (2) disrupted family life, (3) misattribution, (4) denial and refusal to seek advice, (5) lack of confirmation from social context, (6) non-responsiveness of a general practitioner (GP), and (7) misdiagnosis. Cognitive and behavioral changes in the person with EOD were common and difficult to understand for caregivers. Marital difficulties, problems with children and work/financial issues were important topics. Confirmation of family members and being aware of problems at work were important for caregivers to notice deficits and/or seek help. Other main issues were a patient's refusal to seek help resulting from denial and inadequate help resulting from misdiagnosis.Conclusion: EOD caregivers experience a long and difficult period before diagnosis. We hypothesize that denial, refusal to seek help, misattribution of symptoms, lack of confirmation from the social context, professionals’ inadequate help and faulty diagnoses prolong the time before diagnosis. These findings underline the need for faster and more adequate help from health-care professionals and provide issues to focus on when supporting caregivers of people with EOD.

TAU CYTOPATHOLOGY IN A PATIENT WITH FAMILIAL EARLY ONSET DEMENTIA

1998 ◽  
Vol 57 (5) ◽  
pp. 509
Author(s):  
M. Gearing ◽  
A. I. Levey ◽  
R. Jones ◽  
W. Walton ◽  
J. M. Shoffner ◽  
...  
Keyword(s):  
Early Onset ◽  
Early Onset Dementia

scholarly journals Experiences of influencing one's own life when living with working-age dementia

2021 ◽  
pp. 1-20
Author(s):  
Mervi Issakainen ◽  
Anna Mäki-Petäjä-Leinonen ◽  
Sirkkaliisa Heimonen ◽  
Ann-Charlotte Nedlund ◽  
Arlene Astell ◽  
...  
Keyword(s):  
Focus Group ◽  
Everyday Life ◽  
Early Onset ◽  
Relational Autonomy ◽  
Focus Group Discussions ◽  
Group Discussions ◽  
Workplace Education ◽  
Early Onset Dementia ◽  
Working Age

Abstract Having opportunities to make decisions and choices regarding one's life is crucial when living with dementia. This inter-disciplinary study draws on the concept of relational autonomy to explore how working-age people living dementia seek to influence their lives, and what makes it easier or more difficult for them in their everyday life. The data consist of three focus group discussions conducted with 12 retired adults who developed dementia while still employed. The results illuminate various resources that enable a person to (a) handle their difficulties at work and related consequences with dignity, (b) manage everyday tasks and live a fulfilling life, and (c) fight the stigma associated with (working-age) dementia. Challenges related to these aspects reported by the participants reveal gaps and obstacles that impede the full realisation of the rights of people living with early onset dementia. This research highlights the need for workplace education for different stakeholders, equal and ongoing access to guidance and counselling for younger people who live with dementia, and an effort by society as a whole to eradicate stigma.

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