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mitochondrial disease guidelines

Devashana Gupta, M Louise Hull, Ian Fraser, Laura Miller, Patrick M M Bossuyt, Neil Johnson, Vicki Nisenblat
BACKGROUND: About 10% of reproductive-aged women suffer from endometriosis, which is a costly, chronic disease that causes pelvic pain and subfertility. Laparoscopy is the gold standard diagnostic test for endometriosis, but it is expensive and carries surgical risks. Currently, there are no non-invasive tests available in clinical practice that accurately diagnose endometriosis. This is the first diagnostic test accuracy review of endometrial biomarkers for endometriosis that utilises Cochrane methodologies, providing an update on the rapidly expanding literature in this field...
2016: Cochrane Database of Systematic Reviews
G E Carpagnano, D Lacedonia, M Carone, P Soccio, G Cotugno, G A Palmiotti, G Scioscia, M P Foschino Barbaro
Mitochondrial DNA (MtDNA) has been studied as an expression of oxidative stress in asthma, COPD, lung cancer and obstructive sleep apnea, but it has been mainly investigated systemically, although the pathogenetic mechanisms begin in the airways and only later progress to systemic circulation. The aim of this study was to investigate the MtDNA alterations in the exhaled breath condensate (EBC) of patients with asthma, COPD and asthma-COPD overlap syndrome (ACOS). In order to analyze better what happens to mitochondria, both locally and systemically, we compared MtDNA/nDNA in blood and EBC of paired patients...
June 2016: Journal of Breath Research
G E Carpagnano, D Lacedonia, M Malerba, G A Palmiotti, G Cotugno, M Carone, M P Foschino-Barbaro
BACKGROUND: Mitochondria contain their own DNA (MtDNA) that is very sensitive to oxidative stress and as a consequence could be damaged in quantity. Oxidative stress is largely recognized to play a key role in the pathogenesis of asthma and COPD and might have a role in the new intermediate phenotype ACOS (asthma-COPD overlap syndrome). The aim of this study was to investigate MtDNA alterations, as an expression of mitochondrial dysfunction, in ACOS and to verify whether they might help in the identification of this new phenotype and in its differentiation from asthma and COPD...
2016: BMC Pulmonary Medicine
Yue Wu, Yu Zhu, Xiang-Yun Chen, Liang-Ming Liu, Tao Li
The current diagnosis and treatment guidelines for severe trauma and shock are all for healthy population. Few studies focused on the pathophysiological features and treatments in metabolic diseases after severe trauma and shock. Vascular reactivity is significantly decreased after severe trauma and shock. Improving the vascular reactivity with arginine vasopressin (AVP) and phorbol-12 myristate-13-acetate (PMA) is beneficial to trauma and shock. Whether the cardiovascular function and treatment responses have the own features in hypertensive, diabetic, and hyperlipidemic patients after traumatic hemorrhagic shock is not known...
February 2016: Shock
Ying-Han R Hsu, Haran Yogasundaram, Nirmal Parajuli, Lucas Valtuille, Consolato Sergi, Gavin Y Oudit
Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Cardiac dysfunction occurs in approximately a third of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, a stereotypical example of a mitochondrial disorder leading to a cardiomyopathy...
January 2016: Heart Failure Reviews
Diego García-Compeán, José A González-González, Fernando J Lavalle-González, Emmanuel I González-Moreno, Héctor J Maldonado-Garza, Jesús Zacarías Villarreal-Pérez
About 80% of patients with liver cirrhosis may have glucose metabolism disorders, 30% show overt diabetes mellitus (DM). Prospective studies have demonstrated that DM is associated with an increased risk of hepatic complications and death in patients with liver cirrhosis. DM might contribute to liver damage by promoting inflammation and fibrosis through an increase in mitochondrial oxidative stress mediated by adipokines. Based on the above mentioned the effective control of hyperglycemia may have a favorable impact on the evolution of these patients...
November 2015: Annals of Hepatology
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September 24, 2015: Nature
Gerald S Bloomfield, Fawaz Alenezi, Felix A Barasa, Rebecca Lumsden, Bongani M Mayosi, Eric J Velazquez
Successful combination therapy for human immunodeficiency virus (HIV) has transformed this disease from a short-lived infection with high mortality to a chronic disease associated with increasing life expectancy. This is true for high- as well as low- and middle-income countries. As a result of this increased life expectancy, people living with HIV are now at risk of developing other chronic diseases associated with aging. Heart failure has been common among people living with HIV in the eras of pre- and post- availability of antiretroviral therapy; however, our current understanding of the pathogenesis and approaches to management have not been systematically addressed...
August 2015: JACC. Heart Failure
Yi Shiau Ng, John P Grady, Nichola Z Lax, John P Bourke, Charlotte L Alston, Steven A Hardy, Gavin Falkous, Andrew G Schaefer, Aleksandar Radunovic, Saidi A Mohiddin, Matilda Ralph, Ali Alhakim, Robert W Taylor, Robert McFarland, Douglass M Turnbull, Gráinne S Gorman
AIMS: To provide insight into the mechanism of sudden adult death syndrome (SADS) and to give new clinical guidelines for the cardiac management of patients with the most common mitochondrial DNA mutation, m.3243A>G. These studies were initiated after two young, asymptomatic adults harbouring the m.3243A>G mutation died suddenly and unexpectedly. The m.3243A>G mutation is present in ∼1 in 400 of the population, although the recognized incidence of mitochondrial DNA (mtDNA) disease is ∼1 in 5000...
August 21, 2016: European Heart Journal
Tomohiro Nakamura, Stuart A Lipton
Reactive nitrogen species, such as nitric oxide (NO), exert their biological activity in large part through post-translational modification of cysteine residues, forming S-nitrosothiols. This chemical reaction proceeds via a process that we and our colleagues have termed protein S-nitrosylation. Under conditions of normal NO production, S-nitrosylation regulates the activity of many normal proteins. However, in degenerative conditions characterized by nitrosative stress, increased levels of NO lead to aberrant S-nitrosylation that contributes to the pathology of the disease...
March 2016: Neurochemical Research
Makoto Nakamura, Osamu Mimura, Masato Wakakura, Masaru Inatani, Toru Nakazawa, Fumio Shiraga
Designation criteria for Leber's hereditary optic neuropathy (LHON) have been established by a working group for retino-choroidal and optic atrophy funded by the Ministry of Health, Labor, and Welfare (MHLW) of Japan in collaboration with the Japanese Neuro-ophthalmology Society. The criteria are composed of three major symptoms and three ancillary test findings. According to the number and the combination of these symptoms and findings, subjects are classified into definite, probable, and possible LHON cases and asymptomatic carriers...
May 2015: Nippon Ganka Gakkai Zasshi
F Mochel
INTRODUCTION: Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology. In daily practice, it is important to recognize emergency situations as well as neurodegenerative diseases for which a metabolic disease is likely, especially when therapeutic interventions are available...
June 2015: Revue Neurologique
James D Weisfeld-Adams, Ilana B Katz Sand, Justin M Honce, Fred D Lublin
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families...
March 2015: Brain: a Journal of Neurology
Tomohiro Hori, Seiji Yamaguchi, Haruo Shinkaku, Reiko Horikawa, Yosuke Shigematsu, Masaki Takayanagi, Toshiyuki Fukao
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase or T2) deficiency are classified as autosomal recessive disorders of ketone body utilization characterized by intermittent ketoacidosis. Patients with mutations retaining no residual activity on analysis of expression of mutant cDNA are designated as severe genotype, and patients with at least one mutation retaining significant residual activity, as mild genotype. Permanent ketosis is a pathognomonic characteristic of SCOT-deficient patients with severe genotype...
2015: Pediatrics International: Official Journal of the Japan Pediatric Society
Nicholas A Burd, Nicolas Tardif, Olav Rooyackers, Luc J C van Loon
The measurement of mitochondrial protein synthesis after food ingestion, contractile activity, and/or disease is often used to provide insight into skeletal muscle adaptations that occur in the longer term. Studies have shown that protein ingestion stimulates mitochondrial protein synthesis in human skeletal muscle. Minor differences in the stimulation of mitochondrial protein synthesis occur after a single bout of resistance or endurance exercise. There appear to be no measurable differences in mitochondrial protein synthesis between critically ill patients and aged-matched controls...
January 2015: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
Paul A Lapchak, Rene Bombien, Padmesh S Rajput
J-147 is a broad spectrum neuroprotective phenyl hydrazide compound with significant neurotrophic properties related to the induction of brain-derived neurotrophic factor (BDNF). Because this molecule is pleiotropic, it may have substantial utility in the treatment of a wide range of neurodegenerative diseases including acute ischemic stroke (AIS), traumatic brain injury(TBI), and Alzheimer's disease(AD) where both neuroprotection and neurotrophism would be beneficial. Because of the pleiotropic actions of J-147, we sought to determine the safety profile of the drug using multiple assay analysis...
August 2013: Journal of Neurology & Neurophysiology
Calvin C Willhite, Nataliya A Karyakina, Robert A Yokel, Nagarajkumar Yenugadhati, Thomas M Wisniewski, Ian M F Arnold, Franco Momoli, Daniel Krewski
Abstract Aluminum (Al) is a ubiquitous substance encountered both naturally (as the third most abundant element) and intentionally (used in water, foods, pharmaceuticals, and vaccines); it is also present in ambient and occupational airborne particulates. Existing data underscore the importance of Al physical and chemical forms in relation to its uptake, accumulation, and systemic bioavailability. The present review represents a systematic examination of the peer-reviewed literature on the adverse health effects of Al materials published since a previous critical evaluation compiled by Krewski et al...
October 2014: Critical Reviews in Toxicology
Wojciech Kukwa, Piotr Korzeń, Piotr Wojtowicz, Grzegorz Sobczyk, Dorota Kiprian, Andrzej Kawecki, Andrzej Kukwa, Antoni Krzeski, Cezary Szczylik, Anna M Czarnecka
At present, only eight cases of tracheal adenoid cystic carcinomas (ACCs) mimicking thyroid tumors have been reported. Since there are no guidelines available regarding their diagnosis and treatment, they present a significant clinical challenge. In the present study, patient treatment was analyzed to deliver the first concise summary of treatment options in patients with ACC mimicking a thyroid tumor. In addition, all available data regarding molecular abnormalities of this disease have been discussed. The current study presents a case of a 17-year-old patient with a tracheal ACC mimicking a thyroid tumor...
September 2014: Oncology Letters
Mia Levite
Glutamate is the major excitatory neurotransmitter of the Central Nervous System (CNS), and it is crucially needed for numerous key neuronal functions. Yet, excess glutamate causes massive neuronal death and brain damage by excitotoxicity--detrimental over activation of glutamate receptors. Glutamate-mediated excitotoxicity is the main pathological process taking place in many types of acute and chronic CNS diseases and injuries. In recent years, it became clear that not only excess glutamate can cause massive brain damage, but that several types of anti-glutamate receptor antibodies, that are present in the serum and CSF of subpopulations of patients with a kaleidoscope of human neurological diseases, can undoubtedly do so too, by inducing several very potent pathological effects in the CNS...
August 2014: Journal of Neural Transmission
Kimberly J Dunham-Snary, Michael W Sandel, David G Westbrook, Scott W Ballinger
Obesity is a primary risk factor for numerous metabolic diseases including metabolic syndrome, type II diabetes (T2DM), cardiovascular disease and cancer. Although classically viewed as a storage organ, the field of white adipose tissue biology is expanding to include the consideration of the tissue as an endocrine organ and major contributor to overall metabolism. Given its role in energy production, the mitochondrion has long been a focus of study in metabolic dysfunction and a link between the organelle and white adipose tissue function is likely...
2014: Redox Biology
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