Interdisciplinary Telemedicine Services for Huntington's Disease: A 20-Year Experience

Telemedicine and e-Health, Ahead of Print.
Source: Telemedicine and e-Health - Category: Information Technology Authors: Source Type: research

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The development of Huntington's disease (HD) is associated with muscle pathology, manifesting in wasting and atrophy, and accompanied by defects in energy metabolism. However, the precise mitochondrial respiratory chain alterations have not been yet defined for different stages of HD development in patients. Muscle samples were acquired by a fine-needle biopsy method from the middle part of the m. rectus femoris of 8 HD pre-symptomatic patients (age, mean ±SD, 27±3.25 years), 8 symptomatic patients (43.1±5.59 years) and 15 age and sex-matched controls (28.5±3.21 years, matched to pre-symptomatic...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by progressive chorea, dystonia, and cognitive and psychiatric decline. It is caused by the expansion of CAG trinucleotide repeats in exon 1 of huntingtin (HTT) [1], with 36 –39 repeats associated with reduced penetrance and ≥40 with full penetrance.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
This article also discusses recent developments of cell and mouse models, cellular changes, mitochondrial abnormalities , DNA damage, bioenergetics, oxidative stress, mitophagy, and therapeutics strategies in HD.
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Eur J Pharmacol. 2021 Sep 10:174492. doi: 10.1016/j.ejphar.2021.174492. Online ahead of print.ABSTRACTNeurodegenerative disorders pose a significant health burden and imprint a debilitative impact on the quality of life. Importantly, aging is intricately intertwined with the progression of these disorders, and their prevalence increases with a rise in the aging population worldwide. In recent times, fisetin emerged as one of the potential miracle molecules to address neurobehavioral and cognitive abnormalities. These effects were attributed to its actions on several macromolecules and multiple molecular mechanisms. Fisetin...
Source: European Journal of Pharmacology - Category: Drugs & Pharmacology Authors: Source Type: research
Curr Protein Pept Sci. 2021 Sep 9. doi: 10.2174/1389203722666210910110126. Online ahead of print.ABSTRACTThe approval of istradefylline, an adenosine 2A receptor (A2AR) antagonist, as an add-on treatment in adult patients with Parkinson's disease by the Food and Drug Administration (FDA) and European Medicines Agency (EMA), is the latest proof of the importance of the adenosinergic system in the nervous system. Adenosine is an endogenous purine nucleoside with a role as a modulator of both neurotransmission and the inflammatory response. As such, the expression pattern of the 4 adenosine receptors (A1R, A2AR, A2BR and A3R)...
Source: Current Protein and Peptide Science - Category: Biochemistry Authors: Source Type: research
Biomark Med. 2021 Sep 13. doi: 10.2217/bmm-2021-0092. Online ahead of print.ABSTRACTAim: The aim of our work is to aggregate data from publications of cerebrospinal fluid extracellular miRNA to identify candidate diagnostic biomarkers, and those warranting further study. Materials &methods: Data were pooled from nine studies, encompassing 864 patients across 16 diseases. Unsupervised clustering grouped patients by a broad category of diseases. Results &conclusion: Compared with healthy controls, in patients with Alzheimer's disease, hsa-miR-767-5p was overexpressed (p
Source: Future Medicine: Biomarkers in Medicine - Category: Internal Medicine Authors: Source Type: research
Curr Protein Pept Sci. 2021 Sep 9. doi: 10.2174/1389203722666210910110126. Online ahead of print.ABSTRACTThe approval of istradefylline, an adenosine 2A receptor (A2AR) antagonist, as an add-on treatment in adult patients with Parkinson's disease by the Food and Drug Administration (FDA) and European Medicines Agency (EMA), is the latest proof of the importance of the adenosinergic system in the nervous system. Adenosine is an endogenous purine nucleoside with a role as a modulator of both neurotransmission and the inflammatory response. As such, the expression pattern of the 4 adenosine receptors (A1R, A2AR, A2BR and A3R)...
Source: Current Protein and Peptide Science - Category: Biochemistry Authors: Source Type: research
This study found a significant correlation between age and average FDG uptake (avg-SUV) of the GI tract (P=.0003) with the esophagus showing the highest significance. Correlations were found between avg-SUV of the sigmoid segment and the group average (P
Source: Molecular Medicine - Category: Molecular Biology Authors: Source Type: research
Biomark Med. 2021 Sep 13. doi: 10.2217/bmm-2021-0092. Online ahead of print.ABSTRACTAim: The aim of our work is to aggregate data from publications of cerebrospinal fluid extracellular miRNA to identify candidate diagnostic biomarkers, and those warranting further study. Materials &methods: Data were pooled from nine studies, encompassing 864 patients across 16 diseases. Unsupervised clustering grouped patients by a broad category of diseases. Results &conclusion: Compared with healthy controls, in patients with Alzheimer's disease, hsa-miR-767-5p was overexpressed (p
Source: Future Medicine: Biomarkers in Medicine - Category: Internal Medicine Authors: Source Type: research
Eur J Pharmacol. 2021 Sep 10:174492. doi: 10.1016/j.ejphar.2021.174492. Online ahead of print.ABSTRACTNeurodegenerative disorders pose a significant health burden and imprint a debilitative impact on the quality of life. Importantly, aging is intricately intertwined with the progression of these disorders, and their prevalence increases with a rise in the aging population worldwide. In recent times, fisetin emerged as one of the potential miracle molecules to address neurobehavioral and cognitive abnormalities. These effects were attributed to its actions on several macromolecules and multiple molecular mechanisms. Fisetin...
Source: European Journal of Pharmacology - Category: Drugs & Pharmacology Authors: Source Type: research
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