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https://www.readbyqxmd.com/read/29581464/whole-exome-sequencing-helps-the-diagnosis-and-treatment-in-children-with-neurodevelopmental-delay-accompanied-unexplained-dyspnea
#1
Wenjia Tong, Yajian Wang, Yun Lu, Tongsheng Ye, Conglei Song, Yuanyuan Xu, Min Li, Jie Ding, Yuanyuan Duan, Le Zhang, Weiyue Gu, Xiaoling Zhao, Xiu-An Yang, Danqun Jin
Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Eight genes namely MMACHC, G6PC, G6PT, ETFDH, OTC, NDUFAF5, SLC22A5, and MAGEL2 were suspected to be responsible for the onset of the clinical symptoms and 6 variants were novel...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29497889/influence-of-exercise-on-oxidative-stress-in-patients-with-heart-failure
#2
REVIEW
Sabrina Weiss Sties, Leonardo Vidal Andreato, Tales de Carvalho, Ana Inês Gonzáles, Vitor Giatte Angarten, Anderson Zampier Ulbrich, Lourenço Sampaio de Mara, Almir Schmitt Netto, Edson Luiz da Silva, Alexandro Andrade
Reactive oxygen species play an important role in the pathophysiology of heart failure (HF). In contrast, regular physical exercise can promote adaptations to reactive oxygen species that are beneficial for patients with HF. We completed a systematic review of randomized controlled trials that evaluate the influence of exercise on oxidative stress in patients with HF. Articles were searched in the PubMed, Cochrane, SciELO, and LILACS databases. The search was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines...
March 1, 2018: Heart Failure Reviews
https://www.readbyqxmd.com/read/29431110/the-personal-genome-project-canada-findings-from-whole-genome-sequences-of-the-inaugural-56-participants
#3
Miriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Neal Sondheimer, Ryan K C Yuen, Brett Trost, Tara A Paton, Sergio L Pereira, Jo-Anne Herbrick, Richard F Wintle, Daniele Merico, Jennifer Howe, Jeffrey R MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W L Sung, Zhuozhi Wang, Rohan V Patel, Giovanna Pellecchia, John Wei, Lisa J Strug, Sherilyn Bell, Barbara Kellam, Melanie M Mahtani, Anne S Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D Cohn, Dimitri J Stavropoulos, Sarah Bowdin, Matthew R Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter Ray, M Stephen Meyn, Nasim Monfared, S Mohsen Hosseini, Ann M Joseph-George, Fred W Keeley, Ryan A Cook, Marc Fiume, Hin C Lee, Christian R Marshall, Jill Davies, Allison Hazell, Janet A Buchanan, Michael J Szego, Stephen W Scherer
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS: Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant...
February 5, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29356897/inter-individual-variation-in-adaptations-to-endurance-and-resistance-exercise-training-genetic-approaches-towards-understanding-a-complex-phenotype
#4
Heather L Vellers, Steven R Kleeberger, J Timothy Lightfoot
Exercise training which meets the recommendations set by the National Physical Activity Guidelines ensues a multitude of health benefits towards the prevention and treatment of various chronic diseases. However, not all individuals respond well to exercise training. That is, some individuals have no response, while others respond poorly. Genetic background is known to contribute to the inter-individual (human) and -strain (e.g., mice, rats) variation with acute exercise and exercise training, though to date, no specific genetic factors have been identified that explain the differential responses to exercise...
February 2018: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29325612/genetics-of-parkinson-disease
#5
Aloysius Domingo, Christine Klein
An understanding of the genetic etiology of Parkinson disease (PD) has become imperative for the modern-day neurologist. Although genetic forms cause only a minority of PD, the disease mechanisms they elucidate advance the understanding of idiopathic cases. Moreover, recently identified susceptibility variants contribute to complex-etiology PD and broaden the contribution of genetics beyond familial and early-onset cases. Dominantly inherited monogenic forms mimic idiopathic PD and are caused by mutations or copy number variations of SNCA, LRRK2, and VPS35...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29229998/guidelines-on-experimental-methods-to-assess-mitochondrial-dysfunction-in-cellular-models-of-neurodegenerative-diseases
#6
REVIEW
Niamh M C Connolly, Pierre Theurey, Vera Adam-Vizi, Nicolas G Bazan, Paolo Bernardi, Juan P Bolaños, Carsten Culmsee, Valina L Dawson, Mohanish Deshmukh, Michael R Duchen, Heiko Düssmann, Gary Fiskum, Maria F Galindo, Giles E Hardingham, J Marie Hardwick, Mika B Jekabsons, Elizabeth A Jonas, Joaquin Jordán, Stuart A Lipton, Giovanni Manfredi, Mark P Mattson, BethAnn McLaughlin, Axel Methner, Anne N Murphy, Michael P Murphy, David G Nicholls, Brian M Polster, Tullio Pozzan, Rosario Rizzuto, Jorgina Satrústegui, Ruth S Slack, Raymond A Swanson, Russell H Swerdlow, Yvonne Will, Zheng Ying, Alvin Joselin, Anna Gioran, Catarina Moreira Pinho, Orla Watters, Manuela Salvucci, Irene Llorente-Folch, David S Park, Daniele Bano, Maria Ankarcrona, Paola Pizzo, Jochen H M Prehn
Neurodegenerative diseases are a spectrum of chronic, debilitating disorders characterised by the progressive degeneration and death of neurons. Mitochondrial dysfunction has been implicated in most neurodegenerative diseases, but in many instances it is unclear whether such dysfunction is a cause or an effect of the underlying pathology, and whether it represents a viable therapeutic target. It is therefore imperative to utilise and optimise cellular models and experimental techniques appropriate to determine the contribution of mitochondrial dysfunction to neurodegenerative disease phenotypes...
March 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29217634/anthracycline-cardiotoxicity-an-update-on-mechanisms-monitoring-and-prevention
#7
REVIEW
Peter A Henriksen
Anthracycline chemotherapy causes dose-related cardiomyocyte injury and death leading to left ventricular dysfunction. Clinical heart failure may ensue in up to 5% of high-risk patients. Improved cancer survival together with better awareness of the late effects of cardiotoxicity has led to growing recognition of the need for surveillance of anthracycline-treated cancer survivors with early intervention to treat or prevent heart failure. The main mechanism of anthracycline cardiotoxicity is now thought to be through inhibition of topoisomerase 2β resulting in activation of cell death pathways and inhibition of mitochondrial biogenesis...
December 7, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29209747/an-adverse-outcome-pathway-for-parkinsonian-motor-deficits-associated-with-mitochondrial-complex-i-inhibition
#8
REVIEW
Andrea Terron, Anna Bal-Price, Alicia Paini, Florianne Monnet-Tschudi, Susanne Hougaard Bennekou, Marcel Leist, Stefan Schildknecht
Epidemiological studies have observed an association between pesticide exposure and the development of Parkinson's disease, but have not established causality. The concept of an adverse outcome pathway (AOP) has been developed as a framework for the organization of available information linking the modulation of a molecular target [molecular initiating event (MIE)], via a sequence of essential biological key events (KEs), with an adverse outcome (AO). Here, we present an AOP covering the toxicological pathways that link the binding of an inhibitor to mitochondrial complex I (i...
January 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/29067126/early-surgery-increases-mitochondrial-dna-release-and-lung-injury-in-a-model-of-elderly-hip-fracture-and-chronic-obstructive-pulmonary-disease
#9
Jianzheng Zhang, Juan Wang, Xiaowei Wang, Zhi Liu, Jixin Ren, Tiansheng Sun
Hip fractures are one of the most common injuries in elderly individuals and are associated with a high incidence of complications and mortality. Clinical guidelines recommend early reparative surgery within 24-48 h from hospital admission; however, it is currently unknown whether this principle of early surgery is applicable for patients with hip fracture and chronic obstructive pulmonary disease (COPD). To investigate the systemic inflammatory response and lung injury as a result early surgery in elderly patients with hip fracture and COPD, a COPD model was created, by daily exposure to cigarette smoke, and evaluated...
November 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28991104/international-consensus-statement-on-the-clinical-and-therapeutic-management-of-leber-hereditary-optic-neuropathy
#10
Valerio Carelli, Michele Carbonelli, Irenaeus F de Coo, Aki Kawasaki, Thomas Klopstock, Wolf A Lagrèze, Chiara La Morgia, Nancy J Newman, Christophe Orssaud, Jan Willem R Pott, Alfredo A Sadun, Judith van Everdingen, Catherine Vignal-Clermont, Marcela Votruba, Patrick Yu-Wai-Man, Piero Barboni
Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history is now fairly well understood. LHON also is the first mitochondrial disease for which a treatment has been approved (idebenone-Raxone, Santhera Pharmaceuticals) by the European Medicine Agency, under exceptional circumstances because of the rarity and severity of the disease. However, what remains unclear includes the optimal target population, timing, dose, and frequency of administration of idebenone in LHON due to lack of accepted definitions, criteria, and general guidelines for the clinical management of LHON...
December 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
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
#11
REVIEW
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
#12
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
#13
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
#14
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...
May 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28261061/molecular-mechanisms-of-bipolar-disorder-progress-made-and-future-challenges
#15
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
#16
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...
June 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28252608/-clinical-guidelines-for-the-use-of-dimethyl-fumarate-in-relapsing-remitting-multiple-sclerosis
#17
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
#18
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
#19
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
#20
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
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