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mitochondrial disease guidelines

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https://www.readbyqxmd.com/read/28599323/a-guideline-for-the-diagnosis-of-pediatric-mitochondrial-disease-the-value-of-muscle-and-skin-biopsies-in-the-genetics-era
#1
Saskia B Wortmann, Johannes A Mayr, Jean Marc Nuoffer, Holger Prokisch, Wolfgang Sperl
No abstract text is available yet for this article.
August 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28500967/a-systematic-review-on-potential-mechanisms-of-minocycline-in-kidney-diseases
#2
REVIEW
Hamed Haghi-Aminjan, Mohammad Hossein Asghari, Mohammad Hadi Goharbari, Mohammad Abdollahi
Kidney diseases need specialized health care and still are a reason of death. There is a large body of evidence that indicates minocycline possesses some cytoprotective effects beside of antibacterial properties. In this review, we aimed to explain cytoprotective mechanisms and kidney protection of minocycline. In order to find the effects of minocycline on kidney diseases a systematic literature search was performed, according to the guidelines proposed at the PRISMA statement in the electronic databases, including: PubMed, Scopus, and Web of Science up to August 2016, using the term 'minocycline' combined either by 'kidney' or 'renal' and published in English language...
February 8, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/28417080/applying-a-systems-approach-to-thyroid-physiology-looking-at-the-whole-with-a-mitochondrial-perspective-instead-of-judging-single-tsh-values-or-why-we-should-know-more-about-mitochondria-to-understand-metabolism
#3
REVIEW
Roy Moncayo, Helga Moncayo
Classical thinking in endocrine physiology squeezes our diagnostic handling into a simple negative feedback mechanism with a controller and a controlled variable. In the case of the thyroid this is reduced to TSH and fT3 and fT4, respectively. The setting of this tight notion has no free space for any additions. In this paper we want to challenge this model of limited application by proposing a construct based on a systems approach departing from two basic considerations. In first place since the majority of cases of thyroid disease develop and appear during life it has to be considered as an acquired condition...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28303425/common-data-elements-for-clinical-research-in-mitochondrial-disease-a-national-institute-for-neurological-disorders-and-stroke-project
#4
Amel Karaa, Shamima Rahman, Anne Lombès, Patrick Yu-Wai-Man, Muniza K Sheikh, Sherita Alai-Hansen, Bruce H Cohen, David Dimmock, Lisa Emrick, Marni J Falk, Shana McCormack, David Mirsky, Tony Moore, Sumit Parikh, John Shoffner, Tanja Taivassalo, Mark Tarnopolsky, Ingrid Tein, Joanne C Odenkirchen, Amy Goldstein
OBJECTIVES: The common data elements (CDE) project was developed by the National Institute of Neurological Disorders and Stroke (NINDS) to provide clinical researchers with tools to improve data quality and allow for harmonization of data collected in different research studies. CDEs have been created for several neurological diseases; the aim of this project was to develop CDEs specifically curated for mitochondrial disease (Mito) to enhance clinical research. METHODS: Nine working groups (WGs), composed of international mitochondrial disease experts, provided recommendations for Mito clinical research...
March 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28261061/molecular-mechanisms-of-bipolar-disorder-progress-made-and-future-challenges
#5
REVIEW
Yeni Kim, Renata Santos, Fred H Gage, Maria C Marchetto
Bipolar disorder (BD) is a chronic and progressive psychiatric illness characterized by mood oscillations, with episodes of mania and depression. The impact of BD on patients can be devastating, with up to 15% of patients committing suicide. This disorder is associated with psychiatric and medical comorbidities and patients with a high risk of drug abuse, metabolic and endocrine disorders and vascular disease. Current knowledge of the pathophysiology and molecular mechanisms causing BD is still modest. With no clear biological markers available, early diagnosis is a great challenge to clinicians without previous knowledge of the longitudinal progress of illness...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28256436/parkinsonian-pyramidal-syndromes-a-systematic-review
#6
REVIEW
Christine Tranchant, Meriam Koob, Mathieu Anheim
INTRODUCTION: Parkinsonian-Pyramidal syndrome (PPS), defined as the combination of both pyramidal and parkinsonian signs is a concept that recently emerged. PPS may manifest itself in numerous neurodegenerative diseases, many of these being inherited. Their diagnosis is a major challenge for the clinical management, for the prognosis, for genetic counselling and, in a few cases, which should not be neglected, for specific treatment. OBJECTIVE: Our objective is to provide a review of PPS and an algorithm in order to guide their diagnosis in clinical practice...
February 22, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28252608/-clinical-guidelines-for-the-use-of-dimethyl-fumarate-in-relapsing-remitting-multiple-sclerosis
#7
V M Alifirova, A N Boiko, Ya V Vlasov, M V Davydovskaya, M N Zakharova, N A Malkova, E V Popova, S A Sivertseva, N N Spirin, N V Khachanova, Т Е Shmidt
Multiple sclerosis is a chronic demyelinating and neurodegenerative disease of the central nervous system, in which autoimmune inflammation and oxidative stress play essential pathogenetic roles. Activation and infiltration of immune cells in brain tissues, lipid peroxidation products, mitochondrial dysfunction, defective antioxidant protection, and many other pathological factors result in demyelination, axonal injury and death, and apoptosis of oligodendrocytes and neurons, all of which causes constant progression of the disease...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27896927/a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiency
#8
Claire Allen, Russell Perkins, Bernd Schwahn
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency is the most common genetically determined disorder of mitochondrial fatty acid oxidation. Decompensation can result in hypoglycemia, seizures, coma, and death but may be prevented by ensuring glycogen stores do not become depleted. Perioperative care is of interest as surgery, fasting, and infection may all trigger decompensation and the safety of anesthetic agents has been questioned. Current guidelines from the British Inherited Metabolic Disease Group advise on administering fluid containing 10% glucose during the perioperative period...
January 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27880996/oxidative-stress-induced-damage-to-paternal-genome-and-impact-of-meditation-and-yoga-can-it-reduce-incidence-of-childhood-cancer
#9
Dada Rima, Basant Kumar Shiv, Chawla Bhavna, Bisht Shilpa, Khan Saima
Background: Sperm DNA damage is underlying aetiology of poor implantation and pregnancy rates but also affects health of offspring and may also result in denovo mutations in germ line and post fertilization. This may result in complex diseases, polygenic disorders and childhood cancers. Childhood cancer like retinoblastoma (RB) is more prevalent in developing countries and the incidence of RB has increased more than three fold in India in the last decade. Recent studies have documented increased incidence of cancers in children born to fathers who consume alcohol in excess and tobacco or who were conceived by assisted conception...
January 9, 2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27864563/a-replication-study-and-meta-analysis-of-mitochondrial-dna-variants-in-the-radiographic-progression-of-knee-osteoarthritis
#10
Mercedes Fernández-Moreno, Angel Soto-Hermida, María E Vázquez-Mosquera, Estefanía Cortés-Pereira, Sonia Pértega, Sara Relaño, Natividad Oreiro-Villar, Carlos Fernández-López, Francisco J Blanco, Ignacio Rego-Pérez
OBJECTIVE: To conduct a replication study and meta-analysis involving the study of mtDNA variants in the radiographic progression of OA in different cohorts worldwide, including Cohort Hip and Cohort Knee (CHECK), the OA Initiative and a cohort from Spain. METHODS: The influence of the haplogroups in the rate of radiographic progression at 96 months in 431 subjects from CHECK was assessed in terms of Kellgren and Lawrence (KL) grade. Progression was defined as a change from KL ⩾ 1 at baseline to any higher grade during the follow-up...
February 2017: Rheumatology
https://www.readbyqxmd.com/read/27775730/mitochondrial-diseases
#11
REVIEW
Gráinne S Gorman, Patrick F Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R Thorburn, Massimo Zeviani, Douglass M Turnbull
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function. Mitochondrial diseases are the most common group of inherited metabolic disorders and are among the most common forms of inherited neurological disorders. One of the challenges of mitochondrial diseases is the marked clinical variation seen in patients, which can delay diagnosis...
October 20, 2016: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/27094925/endometrial-biomarkers-for-the-non-invasive-diagnosis-of-endometriosis
#12
REVIEW
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...
April 20, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27063576/study-of-mitochondrial-dna-alteration-in-the-exhaled-breath-condensate-of-patients-affected-by-obstructive-lung-diseases
#13
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...
April 11, 2016: Journal of Breath Research
https://www.readbyqxmd.com/read/26867569/analysis-of-mitochondrial-dna-alteration-in-new-phenotype-acos
#14
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...
February 12, 2016: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/26717108/diversity-of-vascular-reactivity-and-the-treatment-response-in-diabetic-hypertensive-hyperlipidemic-and-healthy-rats-subjected-to-hemorrhagic-shock
#15
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
https://www.readbyqxmd.com/read/26712328/melas-syndrome-and-cardiomyopathy-linking-mitochondrial-function-to-heart-failure-pathogenesis
#16
REVIEW
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
https://www.readbyqxmd.com/read/26436350/the-treatment-of-diabetes-mellitus-of-patients-with-chronic-liver-disease
#17
REVIEW
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
https://www.readbyqxmd.com/read/26399789/power-play
#18
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
September 24, 2015: Nature
https://www.readbyqxmd.com/read/26251085/human-immunodeficiency-virus-and-heart-failure-in-low-and-middle-income-countries
#19
REVIEW
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
https://www.readbyqxmd.com/read/26188002/sudden-adult-death-syndrome-in-m-3243a-g-related-mitochondrial-disease-an-unrecognized-clinical-entity-in-young-asymptomatic-adults
#20
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
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