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Macrocytosis in Mitochondrial DNA Deletion Syndromes
Acta Haematol. 2023 Feb 10. doi: 10.1159/000529311. Online ahead of print.ABSTRACTLarge single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [1-2]. The common CPEO clinical manifestations are ptosis and ophthalmoplegia. More variable phenotypic manifestations of CPEO (CPEO plus) include involvement of the peripheral nervous system and myopathy. Here, we describe a 62-year-old ...
Source: Acta Haematologica - February 12, 2023 Category: Hematology Authors: Farida Almarzooqi Hilary Vallance Michelle M Mezei Anna Lehman Gabriella Horvath Bojana Rakic Leslie Zypchen Andre Mattman Source Type: research

From Rags to Riches: Power and progress in Abu Dhabi
The Ethiad TowersBy Jan LundiusSTOCKHOLM, Apr 20 2022 (IPS) I recently visited Abu Dhabi and my impressions became intermingled with worries about the war in Ukraine. I also happened to read Livy’s The Early History of Rome, written around the beginning of CE, coming across these lines: The study of history is the best medicine for a sick mind; for in history you have a record of the infinite variety of human experience plainly set out for all to see; and in that record you can find for yourself and your country both examples and warnings; fine things to take as models, base things, rotten through and through, to avoid....
Source: IPS Inter Press Service - Health - April 20, 2022 Category: International Medicine & Public Health Authors: Jan Lundius Tags: Armed Conflicts Crime & Justice Development & Aid Economy & Trade Education Energy Headlines Health Labour Middle East & North Africa TerraViva United Nations IPS UN Bureau Source Type: news

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology Source Type: research

Age Is a Greater Influence on Small Saccades Than Target Size in Normal Subjects on the Horizontal Video Head Impulse Test
Conclusion: While this study suggests that target size may have a statistically significant impact on the vHIT saccade profile of normal subjects, age has a greater influence on the incidence and size of small vHIT saccades. Introduction The video head impulse test (vHIT) is a quantitative adaptation of the clinical head impulse test (1), and enables functional assessment of the high-frequency angular vestibulo-ocular reflex (VOR) in all three planes of head rotation (2, 3). Lightweight goggles worn by the subject detect head movement using an accelerometer and gyroscope, and a high frame rate video camera tracks eye...
Source: Frontiers in Neurology - April 15, 2019 Category: Neurology Source Type: research