Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?

Conclusion and Recommendations In this review we attempt to summarize current knowledge about the HD mutation and how information about CAG repeats in the HTT gene can be used to provide sound genetic counseling, which can possibly extend to other neurodegenerative diseases (44). By involving families in observational (i.e., ENROLL-HD platform) and interventional trials, clinicians have an opportunity to include adult patients and their relatives (e.g., partners, symptomatic minors, premanifest adults) in research-based networks that provide current knowledge about developments in genetic testing and novel therapies in HD (45). With advances in research and improved understanding of mechanisms of dysfunction, degeneration and abnormal development of brain in HD, innovative experimental therapies, such as antisense oligonucleotide (ASO), gene editing by CRSPR/CAS, or suppression of gene modifiers of age at onset may, hopefully, be transferred from basic research into clinics in a not so far future (14, 46, 47). Theoretically, such strategies will consequently require new competencies in the pre- and post-test counseling as well as in pre- and post-conceptional approaches. Moreover, we need to remind that we still need to fully understand how HD develops and why there is such a wide spectrum of heterogeneous clinical manifestations among patients. Accordingly, new potential challenges in genetic diagnosis will require further and constant updates of guidelines and the psychol...
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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This study used Oswestry Disability Index (ODI)-self-comparison and showed that acupuncture treatments for lumber disc herniation and sciatica demonstrated significant improvement in long term clinical outcomes. A total of 112 lumbar disc herniation and sciatica cases were treated with electric acupuncture for pain relief and function improvement from July 1998 to December 2006.ResultsAll the 112 cases filled out the ODI forms prior to receiving treatment. Among the 112 patients, 23 of them did not finish the 6-week treatments. 89 cases were evaluated with ODI after 6-week acupuncture treatments. Of those 89 cases, 67 case...
Source: World Journal of Acupuncture Moxibustion - Category: Complementary Medicine Source Type: research
Publication date: Available online 17 July 2019Source: The Journal of Allergy and Clinical Immunology: In PracticeAuthor(s): Philip H. Li, Timothy J. Watts, Ho-Yin Chung, Chak-Sing Lau
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
Publication date: Available online 18 July 2019Source: The Journal of Allergy and Clinical Immunology: In PracticeAuthor(s): Di Sun, Peter Capucilli, Soma Jyonouchi
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
One fifth of nonsmoking workers reported recent secondhand smoke exposure, CDC researchers found; the number of exposed workers was highest among those in the construction industry.Medscape Medical News
Source: Medscape Allergy Headlines - Category: Allergy & Immunology Tags: Family Medicine/Primary Care News Source Type: news
Publication date: October 2019Source: Accident Analysis &Prevention, Volume 131Author(s): Gary A. DavisAbstractAlthough the Highway Safety Manual (HSM) now provides empirical tools for predicting the safety consequences of highway engineering decisions, these tools represent the driver and vehicle conditions prevailing in the United States during the last few decades. As automated vehicles improve in capability and increase in market share these conditions will change, possibly reducing the accuracy of HSM predictions. Assessing the transferability of a crash modification factor to new situations almost certainly requi...
Source: Accident Analysis and Prevention - Category: Accident Prevention Source Type: research
Publication date: Available online 17 July 2019Source: AlterAuthor(s): Fanny Jaffrès
Source: ALTER - European Journal of Disability Research - Category: Disability Source Type: research
The objective of this review was to examine the most recent evidence on the association between nutrition, from dietary patterns to specific nutrients, and frailty, before the onset of disability, among elderly individuals.Recent findingsBased on available epidemiological studies, three meta-analyses published in 2018 have outlined a protective effect of greater adherence to a Mediterranean-type diet (MeDi) on the risk for frailty, with up to a 60% reduction in risk. Several studies focusing on particular food groups, macronutrients and micronutrients have also been published and have highlighted that a protein intake of 1...
Source: Progress in Neuro Psychopharmacology and Biological Psychiatry - Category: Psychiatry Source Type: research
ConclusionsProechimys represents a promising animal model for studying the mechanisms underlying the susceptibility of dopaminergic neurons to degeneration induced by 6-OHDA.
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Publication date: Available online 17 July 2019Source: Neuroscience LettersAuthor(s): Rehana Khatoon, Md. Zeeshan Rasheed, Mahika Rawat, Mohd. Mumtaz Alam, Heena Tabassum, Suhel ParvezAbstractAlzheimers’s disease is one of the alarming neurodegenerative disease and it is of global concern.The hallmarks of the disease are the amyloid beta (Aβ) aggregation and presence of neurofibrillary tangles (NFTs). The interaction of Aβ with macromolecular targets affects the normal cellular functions. The amyloid peptide interaction with cellular surfaces may trigger the intracellular cascades of signalling. Interaction...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
In this study, we conducted a meta-analysis to evaluate the possible association between the two polymorphisms and PD. Literature searches were conducted on PubMed, Web of Science, EMBASE, CNKI and the Wanfang database on studies published until March 2019. Authentic data were calculated utilizing STATA 12.0 statistics software on the data provided in each study. The genetic association between SNCA polymorphisms and the risk of PD was evaluated using the pooled odds ratios (OR) and 95% confidence interval (CI). The results indicate that there is a significant association between rs356219 polymorphism and PD susceptibility...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
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