127 research outputs found
What are the effects of acquired hearing loss in older people?
Background: Acquired hearing loss (AHL) is defined as a hearing loss which is acquired after birth or at any other time in one’s life. In Ireland, one in every twelve adults has a permanent hearing loss as a result of aging or exposure to noise. Aim: The experiences of the older Irish population has not yet been researched, therefore this study aimed to investigate the experiences of members of the Cork Deaf Association (CDA) who have an acquired hearing loss (AHL). Methods: This study was a pilot study in collaboration with CARL and the Cork Deaf Association which used a qualitative research design. Data was gathered using an open ended questionnaire which was distributed by the CDA to 30 potential participants. Data was analysed using a latent thematic approach. Results:12 members of the CDA responded to the questionnaires. From these responses four themes were identified. They included emotional well-being, management strategies and habilitation, alienation and promoting awareness. This study supported the hypothesis that AHL can have a negative effect on older people Conclusion: Further research is needed in this area in order to get a deeper insight into the effects AHL has on the older Irish population as a whole. Promoting awareness within communities may help older people with AHL to re-integrate into society and help eliminate the feeling of isolation and alienation
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Background:
As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings.
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Methods:
We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant classes for 65 ClinGen-curated ICC gene-disease pairs. We present this information for the first time in a structured dataset, CardiacG2P, and assess application in genomic variant filtering.
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Results:
For 36/65 gene-disease pairs, loss of function is not an established disease mechanism, and protein truncating variants are not known to be pathogenic. Using the CardiacG2P dataset as an initial variant filter allows for efficient variant prioritisation whilst maintaining a high sensitivity for retaining pathogenic variants compared with two other variant filtering approaches.
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Conclusions:
Access to evidence-based structured data representing disease mechanism and allelic requirement aids variant filtering and analysis and is a pre-requisite for scalable genomic testing
The genetic landscape of immune-competent and HIV lymphoma
This journal supplement is Proceedings of the 13th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies (ICMAOI)Open Access JournalBurkitt lymphoma (BL) and diffuse large B cell lymphoma (DLBCL) are aggressive forms of lymphoma in adults and demonstrate overlapping morphology, immunophenotype and clinical behavior. The risk of developing these tumors increases ten to hundred-fold in the setting of HIV infection. The genetic causes and the role of specific mutations, especially in the setting of HIV, are largely unknown.
The decoding of the human genome and the advent of high-throughput sequencing have provided rich opportunities for the comprehensive identification of the genetic causes of cancer. In order to comprehensively identify genes that are recurrently mutated in immune-competent DLBCL and BL, we obtained a total of 92 cases of DLBCLs and 40 cases of BL. These cases were compared to a set of 5 DLBCLs and BL tumors derived from patients with HIV. The DLBCL cases were divided into a discovery set (N=34) and …link_to_OA_fulltextThe 13th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies (ICAMAOI), Bethesda, MD., 7-8 November 2011. In Infectious Agents and Cancer, 2011, v. 7 suppl. 1, article no. O
The Marshall Grazing Incidence X-Ray Spectrometer (MaGIXS)
No abstract availabl
Myeloid neoplasm with histiocytosis and spleen tyrosine kinase fusion responds to fostamatinib
Not available
Genetic heterogeneity of diffuse large B-cell lymphoma
Diffuse large B-cell lymphoma (DLBCL) is the most common form
of lymphoma in adults. The disease exhibits a striking heterogeneity
in gene expression profiles and clinical outcomes, but its
genetic causes remain to be fully defined. Through whole genome
and exome sequencing, we characterized the genetic diversity of
DLBCL. In all, we sequenced 73 DLBCL primary tumors (34 with
matched normal DNA). Separately, we sequenced the exomes of
21 DLBCL cell lines. We identified 322 DLBCL cancer genes that
were recurrently mutated in primary DLBCLs. We identified recurrent
mutations implicating a number of known and not previously
identified genes and pathways in DLBCL including those related to
chromatin modification (ARID1A and MEF2B), NF-κB (CARD11 and
TNFAIP3), PI3 kinase (PIK3CD, PIK3R1, and MTOR), B-cell lineage
(IRF8, POU2F2, and GNA13), and WNT signaling (WIF1). We also
experimentally validated a mutation in PIK3CD, a gene not previously
implicated in lymphomas. The patterns of mutation demonstrated
a classic long tail distribution with substantial variation
of mutated genes from patient to patient and also between published
studies. Thus, our study reveals the tremendous genetic
heterogeneity that underlies lymphomas and highlights the need
for personalized medicine approaches to treating these patients
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation–arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
BACKGROUND: As availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including as secondary findings. METHODS: We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant classes for 65 ClinGen-curated ICC gene-disease pairs. We present this information for the first time in a structured dataset, CardiacG2P, and assess application in genomic variant filtering. RESULTS: For 36/65 gene-disease pairs, loss-of-function is not an established disease mechanism, and protein truncating variants are not known to be pathogenic. Using CardiacG2P as an initial variant filter allows for efficient variant prioritisation whilst maintaining a high sensitivity for retaining pathogenic variants compared with two other variant filtering approaches. CONCLUSIONS: Access to evidence-based structured data representing disease mechanism and allelic requirement aids variant filtering and analysis and is pre-requisite for scalable genomic testing
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
BACKGROUND: As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings. METHODS: We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant classes for 65 ClinGen-curated ICC gene-disease pairs. We present this information for the first time in a structured dataset, CardiacG2P, and assess application in genomic variant filtering. RESULTS: For 36/65 gene-disease pairs, loss of function is not an established disease mechanism, and protein truncating variants are not known to be pathogenic. Using the CardiacG2P dataset as an initial variant filter allows for efficient variant prioritisation whilst maintaining a high sensitivity for retaining pathogenic variants compared with two other variant filtering approaches. CONCLUSIONS: Access to evidence-based structured data representing disease mechanism and allelic requirement aids variant filtering and analysis and is a pre-requisite for scalable genomic testing
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