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Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G  >  A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer, Ritwik Ghosh Tags: CASE REPORT Source Type: research

What to Know if Your Doctor Put You on Statins to Lower Cholesterol
High cholesterol is a prime example of having too much of a good thing. Our bodies naturally make this substance in the liver and then transport it throughout the body for multiple functions, including hormone regulation, cell tissue regeneration, and vitamin absorption. When the system is working well, cholesterol can boost overall health. But when a certain type called low-density lipoprotein—LDL, sometimes dubbed the “bad” kind—is overproduced, not only does it block the “good” kind called high-density lipoprotein (HDL), but it can also begin to accumulate in the arteries and form thi...
Source: TIME: Health - January 25, 2023 Category: Consumer Health News Authors: Elizabeth Millard Tags: Uncategorized healthscienceclimate heart health Source Type: news

Searching for Atrial Fibrillation Poststroke: A White Paper of the AF-SCREEN International Collaboration.
H, Kirchhof P, Korompoki E, Krieger DW, Lip GYH, Løchen ML, Mairesse GH, Montaner J, Neubeck L, Ntaios G, Piccini JP, Potpara TS, Quinn TJ, Reiffel JA, Ribeiro ALP, Rienstra M, Rosenqvist M, Sakis T, Sinner MF, Svendsen JH, Van Gelder IC, Wachter R, Wijeratne T, Yan B Abstract Cardiac thromboembolism attributed to atrial fibrillation (AF) is responsible for up to one-third of ischemic strokes. Stroke may be the first manifestation of previously undetected AF. Given the efficacy of oral anticoagulants in preventing AF-related ischemic strokes, strategies of searching for AF after a stroke using ECG monitoring fol...
Source: Circulation - November 25, 2019 Category: Cardiology Authors: Schnabel RB, Haeusler KG, Healey JS, Freedman B, Boriani G, Brachmann J, Brandes A, Bustamante A, Casadei B, Crijns HJGM, Doehner W, Engström G, Fauchier L, Friberg L, Gladstone DJ, Glotzer TV, Goto S, Hankey GJ, Harbison JA, Hobbs FDR, Johnson LSB, Kame Tags: Circulation Source Type: research

A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome.
A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome. Indian J Med Res. 2019 Jan;149(1):47-50 Authors: Danda S, Thomas BM, Paramasivam G, Thomas R, Mathew J, Danda D Abstract Background & objectives: : Fibromyalgia syndrome (FMS) is one of the most common chronic pain conditions of unknown aetiology. Mitochondrial dysfunction has been reported in FMS with some studies reporting the presence of mitochondrial mutation namely A3243G, which also causes mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. This pilot study was condu...
Source: Indian J Med Res - December 31, 2018 Category: Research Authors: Danda S, Thomas BM, Paramasivam G, Thomas R, Mathew J, Danda D Tags: Indian J Med Res Source Type: research

Neurologic conditions and disorders of uremic syndrome of chronic kidney disease: Presentations, causes and treatment strategies.
Authors: Hamed SA Abstract INTRODUCTION: Uremic syndrome of chronic kidney disease (CKD) is a term used to describe clinical, metabolic and hormonal abnormalities associated with progressive kidney failure. It is a rapidly growing public health problem worldwide. Nervous system complications occur in every patient with uremic syndrome of CKD. Areas covered: This review summarized central and peripheral nervous system complications of uremic syndrome of CKD and their pathogenic mechanisms. They include cognitive deterioration, encephalopathy, seizures, asterixis, myoclonus, restless leg syndrome, central pontine mye...
Source: Expert Review of Clinical Pharmacology - December 7, 2018 Category: Drugs & Pharmacology Tags: Expert Rev Clin Pharmacol Source Type: research

The many faces of melas
We report the case of a 76-year-old man (the second oldest diagnosed case to the authors' knowledge) whose case exemplifies the complexity of diagnosing and managing these patients including the complications of the disease.
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 14, 2015 Category: Neurosurgery Authors: AlMasri, O., Massey, T., Mukhopadhyay, D., Walters, R. J. Tags: Genetics, Epilepsy and seizures, Headache (including migraine), Infection (neurology), Muscle disease, Neuromuscular disease, Musculoskeletal syndromes Thur 21, Parallel session 5: Therapeutics Source Type: research

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report
Conclusion Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10 Reference...
Source: Innovations in Clinical Neuroscience - October 9, 2015 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research

The Relationship Between Vitamin D Concentrations and Leg Strength in Persons with Parkinson's (P2.054)
CONCLUSION: Our data does not indicate that lower vitamin D levels are associated with reduced muscle strength; there were non-significant trends to suggest the opposite. These results may be spurious or there may be a different relationship in persons with PD. Mechanisms beyond strength such as central balance control, changes in gait patterns, and cognitive function are necessary to include in intervention studies of vitamin D and balance/falls.Study Supported by: Department of Veterans Affairs CDA2 Award, OCTRI - grant number UL1 RR024140; NeuroNext (5U10NS077350-02).Disclosure: Dr. Peterson has nothing to disclose. Dr....
Source: Neurology - April 9, 2014 Category: Neurology Authors: Peterson, A., Lobb, B., Murchison, C., Quinn, J. Tags: Movement Disorders: Co-morbidities and Novel Care Models Source Type: research

Saturated fat link with heart disease questioned
This article is one doctor's opinion based on his own knowledge, research and experience. However, it is fair to say there is an ongoing debate about how far cholesterol is a risk factor for heart disease, especially in people who are otherwise healthy. There is also a similar debate about the use of statins in people who have no evidence of cardiovascular disease. This is alongside ongoing research into the components of LDL and the different types of lipoproteins known to increase risk the most. None of this relevant new evidence is covered by the news reporting.   What should you eat? There is no need to change curren...
Source: NHS News Feed - October 23, 2013 Category: Consumer Health News Tags: Heart/lungs Food/diet QA articles Source Type: news