Ketogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation

Background: A female carrying the common MERRF mitochondrial DNA A8344G mutation had multiple symmetric lipomatosis (MSL) as the primary disease manifestation. Methods: Case report of a mitochondrial disease patient treating her severe lipomas by lifestyle modifications including a modified ketogenic diet. Results: The patient required lipoma reduction surgery after a rapid rate of lipoma progression. Following a difficult recovery, the patient independently researched an alternative therapy for her disease. The intervention was multi-faceted (dietary, physical activity, meditation) and progressive over two years. A carbohydrate reduced (5–10% of calories) modified ketogenic diet was a major part of the treatment owing to its incidental success in MSL management in her brother for management of glioblastoma multiforme. The outcome of her intervention was positive: weight loss, lipoma size reduction, improvement in physical activity/strength, laboratory markers of insulin resistance, and sense of well including a return to full time work. Conclusions: A potential non-surgical therapy for mitochondrial disease associated MSL appears feasible over the short term. The success of the lifestyle intervention in MSL therapy is unprecedented and, importantly, was fully patient initiated. This novel therapy provides potential insight into the mechanism of MSL exacerbation: suggesting insulin resistance or other lifestyle modifiable factors as mediators of disease progression.

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Experience of low-dose dexamethasone use in the respiratory management of ichthyosis prematurity syndrome

BMJ Case Reports ◽

10.1136/bcr-2021-243348 ◽

2021 ◽

Vol 14 (8) ◽

pp. e243348

Author(s):

Davina Henderson ◽

Claire A Murphy ◽

Mary O'Dea ◽

Michael A Boyle

Keyword(s):

Case Report ◽

Autosomal Recessive ◽

Low Dose ◽

Potential Role ◽

Autosomal Recessive Inheritance ◽

Recessive Inheritance ◽

Single Family ◽

Common Features ◽

Respiratory Management ◽

The Common

Ichthyosis prematurity syndrome (IPS) is a rare disorder of autosomal recessive inheritance. The cardinal features include prematurity, vernix like hyperkeratosis, eosinophilia and neonatal asphyxiation. This case report discusses the presentation and management of IPS. We aim to characterise the common features, the spectrum of disease within a single family and discuss a potential role for low-dose dexamethasone in the management of ventilator-dependent patients with IPS.

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Neuroinflammatory Nexus of Pediatric Epilepsy

Journal of Pediatric Epilepsy ◽

10.1055/s-0038-1668601 ◽

2018 ◽

Vol 07 (02) ◽

pp. 032-039

Author(s):

Shruti Bagla ◽

Alan Dombkowski

Keyword(s):

Inflammatory Mediators ◽

Molecular Mechanisms ◽

Potential Role ◽

Recent Literature ◽

Refractory Epilepsy ◽

Genetic Mutation ◽

Pediatric Epilepsy ◽

Therapeutic Approaches ◽

New Therapeutic Approaches

AbstractA rapidly growing body of evidence supports the premise that neuroinflammation plays an important role in initiating and sustaining seizures in a range of pediatric epilepsies. Clinical and experimental evidence indicates that neuroinflammation is both an outcome and a contributor to seizures. In this manner, seizures that arise from an initial insult (e.g., infection, trauma, and genetic mutation) contribute to an inflammatory response that subsequently promotes recurrent seizures. This cyclic relationship between seizures and neuroinflammation has been described as a “vicious cycle.” Studies of human tissue resected for surgical treatment of refractory epilepsy have reported activated inflammatory and immune signaling pathways, while animal models have been used to demonstrate that key inflammatory mediators lead to increased seizure susceptibility. Further characterization of the molecular mechanisms involved in this cycle may ultimately enable the development of new therapeutic approaches for the treatment of epilepsy. In this brief review, we focus on key inflammatory mediators that have become prominent in recent literature of epilepsy, including newly characterized microRNAs and their potential role in neuroinflammatory signaling.

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Ketogenic diet for treating alopecia in BCS1l‐related mitochondrial disease (Bjornstad syndrome)

JIMD Reports ◽

10.1002/jmd2.12109 ◽

2020 ◽

Vol 53 (1) ◽

pp. 10-11 ◽

Cited By ~ 1

Author(s):

Adela Della Marina ◽

Baerbel Leiendecker ◽

Sebastian Roesch ◽

Saskia B. Wortmann

Keyword(s):

Ketogenic Diet ◽

Mitochondrial Disease

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Fat-Free Mass Changes During Ketogenic Diets and the Potential Role of Resistance Training

International Journal of Sport Nutrition and Exercise Metabolism ◽

10.1123/ijsnem.2015-0070 ◽

2016 ◽

Vol 26 (1) ◽

pp. 78-92 ◽

Cited By ~ 10

Author(s):

Grant M. Tinsley ◽

Darryn S. Willoughby

Keyword(s):

Weight Loss ◽

Resistance Training ◽

Ketogenic Diet ◽

Potential Role ◽

Mass Measurement ◽

Fat Free Mass ◽

Exercise Interventions ◽

Ketogenic Diets ◽

Low Carbohydrate

Low-carbohydrate and very-low-carbohydrate diets are often used as weight-loss strategies by exercising individuals and athletes. Very-low-carbohydrate diets can lead to a state of ketosis, in which the concentration of blood ketones (acetoacetate, 3-β-hydroxybutyrate, and acetone) increases as a result of increased fatty acid breakdown and activity of ketogenic enzymes. A potential concern of these ketogenic diets, as with other weight-loss diets, is the potential loss of fat-free mass (e.g., skeletal muscle). On examination of the literature, the majority of studies report decreases in fat-free mass in individuals following a ketogenic diet. However, some confounding factors exist, such as the use of aggressive weight-loss diets and potential concerns with fat-free mass measurement. A limited number of studies have examined combining resistance training with ketogenic diets, and further research is needed to determine whether resistance training can effectively slow or stop the loss of fat-free mass typically seen in individuals following a ketogenic diet. Mechanisms underlying the effects of a ketogenic diet on fat-free mass and the results of implementing exercise interventions in combination with this diet should also be examined.

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A missing piece: the spiny mouse and the puzzle of menstruating species

Journal of Molecular Endocrinology ◽

10.1530/jme-17-0278 ◽

2018 ◽

Vol 61 (1) ◽

pp. R25-R41 ◽

Cited By ~ 11

Author(s):

Nadia Bellofiore ◽

Fiona Cousins ◽

Peter Temple-Smith ◽

Hayley Dickinson ◽

Jemma Evans

Keyword(s):

Potential Role ◽

Current Knowledge ◽

Reproductive Traits ◽

Fold Increase ◽

Spiny Mouse ◽

Biological Phenomenon ◽

Elephant Shrew ◽

Clinical Models ◽

The Common

We recently discovered the first known menstruating rodent. With the exception of four bats and the elephant shrew, the common spiny mouse (Acomys cahirinus) is the only species outside the primate order to exhibit menses. There are few widely accepted theories on why menstruation developed as the preferred reproductive strategy of these select mammals, all of which reference the evolution of spontaneous decidualisation prior to menstrual shedding. Though menstruating species share several reproductive traits, there has been no identifiable feature unique to menstruating species. Such a feature might suggest why spontaneous decidualisation, and thus menstruation, evolved in these species. We propose that a ≥3-fold increase in progesterone during the luteal phase of the reproductive cycle is a unique characteristic linking menstruating species. We discuss spontaneous decidualisation as a consequence of high progesterone, and the potential role of prolactin in screening for defective embryos in these species to aid in minimising implantation of abnormal embryos. We further explore the possible impact of nutrition in selecting species to undergo spontaneous decidualisation and subsequent menstruation. We summarise the current knowledge of menstruation, discuss current pre-clinical models of menstruation and how the spiny mouse may benefit advancing our understanding of this rare biological phenomenon.

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An Assessment of the Institutional Mechanisms for Water Negotiations in the Ganges-Brahmaputra-Meghna System

International Negotiation ◽

10.1163/15718060020848776 ◽

2000 ◽

Vol 5 (2) ◽

pp. 289-310 ◽

Cited By ~ 22

Author(s):

◽

Keyword(s):

Watershed Management ◽

Potential Role ◽

Lessons Learned ◽

Third Party ◽

The Common ◽

And Performance ◽

The Ganges ◽

Theoretical Issues ◽

Complete Account

AbstractThis article begins with the historical perspective of the Indo-Bangladesh negotiations over common water-related issues in the GBM system. It presents a complete account of the common waters-related issues that exist between India and Bangladesh. It critically examines the genesis and performance of the institutional mechanisms that have evolved over time, particularly the scope and limitations of the Joint Rivers Commission (JRC). The role of JRC is examined in the context of the treaties and MOUs signed between India and Bangladesh for sharing the Ganges at various times. Lessons learned from these and other international negotiations are compiled to make the JRC more effective and efficient. The potential role of third party mediation in the GBM system is discussed along with the role of multi-track diplomacy. Some pertinent theoretical issues are raised regarding the narrow and ambiguous definitions of ``benefit'' and ``equity'' as mentioned in the statues of the JRC. The difficulty of setting a baseline for water sharing is discussed. Finally, it is recommended that the JRC should be expanded into the JWC (Joint Waters Commission) to allow for incorporation of other water-related issues such as watershed management, water quality and coastal ecosystem management. It is emphasized that political willingness has been the single most important factor in determining the success of bilateral negotiations in the GBM system.

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Potential role for the common cystic fibrosis ΔF508 mutation in Crohnʼs disease

Inflammatory Bowel Diseases ◽

10.1002/ibd.20067 ◽

2007 ◽

Vol 13 (5) ◽

pp. 531-536 ◽

Cited By ~ 18

Author(s):

Francesca Bresso ◽

Johan Askling ◽

Marco Astegiano ◽

Brunello Demarchi ◽

Nicoletta Sapone ◽

...

Keyword(s):

Cystic Fibrosis ◽

Potential Role ◽

The Common

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Very Severe and Refractory Noninfectious Cystitis in Patients with Systemic Lupus Erythematosus: Potential Role of Rituximab Therapy

Case Reports in Rheumatology ◽

10.1155/2021/6610111 ◽

2021 ◽

Vol 2021 ◽

pp. 1-6

Author(s):

Vanessa Ocampo-Piraquive ◽

Inés Mondragón-Lenis ◽

Juan G. De los Rios ◽

Carlos A. Cañas

Keyword(s):

Systemic Lupus Erythematosus ◽

Interstitial Cystitis ◽

Lupus Erythematosus ◽

Potential Role ◽

Clinical Manifestations ◽

Severe Form ◽

Systemic Lupus ◽

The Common ◽

Inflammatory Autoimmune Disease

Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease with various clinical manifestations, including, rarely, a form of interstitial cystitis (lupus cystitis, LC). LC can be asymptomatic and usually has discrete symptoms that improve with conventional therapies available for SLE and/or typical interstitial cystitis. A very severe and refractory form is rarely described. In this study, we present four patients with SLE and a very severe form of noninfectious cystitis refractory to the different forms of treatment described. The clinical descriptions of the cases, demographic factors, manifestations associated with SLE, and clinical and paraclinical manifestations related to cystitis, treatments, and outcomes are provided. A proposal for the pathogenesis of this condition is based on the common findings of these patients, including the fact that three were in SLE remission and all four receiving rituximab as induction and/or maintenance therapy.

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