Literature DB >> 23891656

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Sumit Parikh1, Amy Goldstein2, Mary Kay Koenig3, Fernando Scaglia4, Gregory M Enns5, Russell Saneto6, Irina Anselm, Abigail Collins, Bruce H Cohen, Suzanne D DeBrosse, David Dimmock, Marni J Falk, Jaya Ganesh, Carol Greene, Andrea L Gropman, Richard Haas, Stephen G Kahler, John Kamholz, Fran Kendall, Mark S Korson, Andre Mattman, Margherita Milone, Dmitriy Niyazov, Phillip L Pearl, Tyler Reimschisel, Ramona Salvarinova-Zivkovic, Katherine Sims, Mark Tarnopolsky, Chang-Yong Tsao, Johan van Hove, Laurence Walsh, Lynne A Wolfe.   

Abstract

Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an informal set of rules and paradigms for preventive care and management based in part on anecdotal experience. The Mitochondrial Medicine Society (MMS) assessed the current state of clinical practice from diagnosis, to preventive care and treatment, as provided by various mitochondrial disease specialists in North America. We hope that by obtaining this information we can begin moving towards formulating a set of consensus criteria and establishing standards of care.
© 2013.

Entities:  

Keywords:  Clinical guidelines; Mitochondrial disease; Mitochondrial medicine

Mesh：

Year:  2013        PMID： 23891656     DOI： 10.1016/j.mito.2013.07.116

Source DB:  PubMed          Journal:  Mitochondrion        ISSN： 1567-7249            Impact factor:   4.160


  15 in total

1.  Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.

Authors:  Brian Bennett; Daniel Helbling; Hui Meng; Jason Jarzembowski; Aron M Geurts; Marisa W Friederich; Johan L K Van Hove; Michael W Lawlor; David P Dimmock
Journal:  Free Radic Biol Med       Date:  2016-01-08       Impact factor: 7.376

Review 2.  Recent publications by ochsner authors.

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Journal:  Ochsner J       Date:  2014

Review 3.  Presentation and Diagnostic Evaluation of Mitochondrial Disease.

Authors:  David P Dimmock; Michael W Lawlor
Journal:  Pediatr Clin North Am       Date:  2017-02       Impact factor: 3.278

4.  Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.

Authors:  Shana McCormack; Erzsebet Polyak; Julian Ostrovsky; Stephen D Dingley; Meera Rao; Young Joon Kwon; Rui Xiao; Zhe Zhang; Eiko Nakamaru-Ogiso; Marni J Falk
Journal:  Mitochondrion       Date:  2015-03-03       Impact factor: 4.160

Review 5.  Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Authors:  Kathryn M Camp; Danuta Krotoski; Melissa A Parisi; Katrina A Gwinn; Bruce H Cohen; Christine S Cox; Gregory M Enns; Marni J Falk; Amy C Goldstein; Rashmi Gopal-Srivastava; Gráinne S Gorman; Stephen P Hersh; Michio Hirano; Freddie Ann Hoffman; Amel Karaa; Erin L MacLeod; Robert McFarland; Charles Mohan; Andrew E Mulberg; Joanne C Odenkirchen; Sumit Parikh; Patricia J Rutherford; Shawne K Suggs-Anderson; W H Wilson Tang; Jerry Vockley; Lynne A Wolfe; Steven Yannicelli; Philip E Yeske; Paul M Coates
Journal:  Mol Genet Metab       Date:  2016-09-20       Impact factor: 4.797

Review 6.  Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Authors:  Sumit Parikh; Amy Goldstein; Amel Karaa; Mary Kay Koenig; Irina Anselm; Catherine Brunel-Guitton; John Christodoulou; Bruce H Cohen; David Dimmock; Gregory M Enns; Marni J Falk; Annette Feigenbaum; Richard E Frye; Jaya Ganesh; David Griesemer; Richard Haas; Rita Horvath; Mark Korson; Michael C Kruer; Michelangelo Mancuso; Shana McCormack; Marie Josee Raboisson; Tyler Reimschisel; Ramona Salvarinova; Russell P Saneto; Fernando Scaglia; John Shoffner; Peter W Stacpoole; Carolyn M Sue; Mark Tarnopolsky; Clara Van Karnebeek; Lynne A Wolfe; Zarazuela Zolkipli Cunningham; Shamima Rahman; Patrick F Chinnery
Journal:  Genet Med       Date:  2017-07-27       Impact factor: 8.822

7.  Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities.

Authors:  Emily M Siebers; Melinda J Choi; Jennifer A Tinklenberg; Margaret J Beatka; Samuel Ayres; Hui Meng; Daniel C Helbling; Akiko Takizawa; Brian Bennett; Alexander M Garces; Luiz-Gabriel Dias Duarte Machado; David Dimmock; Melinda R Dwinell; Aron M Geurts; Michael W Lawlor
Journal:  J Neuropathol Exp Neurol       Date:  2018-08-01       Impact factor: 3.148

Review 8.  Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.

Authors:  Hui Yu; Victor Wei Zhang
Journal:  Biomed Res Int       Date:  2015-06-07       Impact factor: 3.411

Review 9.  The genetics of Leigh syndrome and its implications for clinical practice and risk management.

Authors:  Ilene S Ruhoy; Russell P Saneto
Journal:  Appl Clin Genet       Date:  2014-11-13

Review 10.  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Authors:  Sumit Parikh; Amy Goldstein; Mary Kay Koenig; Fernando Scaglia; Gregory M Enns; Russell Saneto; Irina Anselm; Bruce H Cohen; Marni J Falk; Carol Greene; Andrea L Gropman; Richard Haas; Michio Hirano; Phil Morgan; Katherine Sims; Mark Tarnopolsky; Johan L K Van Hove; Lynne Wolfe; Salvatore DiMauro
Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822
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