Presentation
The deleted mtDNAs that are present in massive amounts in Kearns-Sayre and Pearson syndromes are also present in much smaller amounts in the normal elderly; such deletions increase exponentially in long-lived tissues, such as muscle and brain. [columbia.edu]
Pamela Weintraub’s powerful presentation at the IOM workshop last October made a notable impression on the IOM Committee. [loudounlyme.org]
It is now clear that mitochondrial DNA mutations underlie these conditions although there is not always a clear correlation between a particular mutation and clinical presentation. 4. [clinsci.org]
At the present accelerating pace of development of what may be called mitochondrial medicine, much more is likely to be achieved within the next few years. [pnas.org]
It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]
Entire Body System
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Heat Intolerance
Definition Edit the disease is characterized by hypermetabolism, profuse perspiration, heat intolerance, and resting tachycardia, the mitochondria respire wildly and excess energy is wasted as heat affects skeletal muscle tissue Symptoms Edit Symptoms [luft-disease.wikia.com]
A dictionary of medical eponyms Related people Lars Ernster Rolf Luft A syndrome characterised by severe hypermetabolism, heat intolerance, profuse perspiration, polyphagia, polydipsia without polyuria, muscular wasting and weakness, absent deep reflexes [whonamedit.com]
Thus this syndrome is characterized by · Severe hyper metabolism, · Heat intolerance, · Profuse perspiration, · Polyphaga, · Polydipsia without polyuria, · Muscular wasting and weakness, · Absent deep reflexes, and · Resting tachycardia. · At the cellular [namrata.co]
Click Here to download this mito profile (PDF) Links: NINDS OMIM, X-linked: OMIM, Adult-onset: OMIM Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and resting tachycardia. [umdf.org]
Click Here to download this mito profile (PDF) Links: NINDS OMIM, X-linked: OMIM, Adult-onset: OMIM Luft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and resting tachycardia [specialneedshomeschooling.com]
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Weight Loss
There is progressive weight loss despite increased food intake. Thyroid function is normal. Onset in childhood. Aetiology unknown. [whonamedit.com]
· There is progressive weight loss despite increased food intake. · Thyroid function is normal. · Onset is in childhood. · The rise in BMR is due to partial uncoupling of oxidative phosphorylation. [namrata.co]
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Hyperthermia
No longer are myotonia, periodic paralysis, and malignant hyperthermia untreatable medical curiosities. No longer are cases of steroid-un responsive myositis given up as hopeless. [books.google.com]
Cardiovascular
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Heart Failure
Heart failure and opportunistic infection are major causes of patient mortality, and there is currently no documented universal therapeutic strategy. [ncbi.nlm.nih.gov]
Psychiatrical
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Fear
I could be looking at chemotherapy (which she still has on the back burner just waiting for me, I fear!). I could be in renal failure looking for a transplant or facing dialysis. [terraluft.com]
Although many British physicians thought that smallpox, measles, and syphilis were contagious, opinions were more divided on cholera, typhus and typhoid -- the most feared epidemic diseases. [ph.ucla.edu]
Urogenital
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Polyuria
[…] resting tachycardia, the mitochondria respire wildly and excess energy is wasted as heat affects skeletal muscle tissue Symptoms Edit Symptoms of Mitochondrial Disease muscle weakness excessive perspiration hypermetabolism increased fluid intake without polyuria [luft-disease.wikia.com]
A dictionary of medical eponyms Related people Lars Ernster Rolf Luft A syndrome characterised by severe hypermetabolism, heat intolerance, profuse perspiration, polyphagia, polydipsia without polyuria, muscular wasting and weakness, absent deep reflexes [whonamedit.com]
Thus this syndrome is characterized by · Severe hyper metabolism, · Heat intolerance, · Profuse perspiration, · Polyphaga, · Polydipsia without polyuria, · Muscular wasting and weakness, · Absent deep reflexes, and · Resting tachycardia. · At the cellular [namrata.co]
Neurologic
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Forgetful
Most days, life is good and I almost forget that I have a chronic illness that will never be cured. But there is this one reminder that, by stark contrast, shows me daily how my fitness has suffered in light of these struggles. [terraluft.com]
Don’t forget children and pets. Use a tick repellent that contains 30 percent DEET to exposed skin. Pre-treat clothes with .5 percent permethrin, an insecticide that both kills and repels ticks. Investigate tick control methods for your pets. [loudounlyme.org]
I will never forget what happened next. We thought we had gotten his seizures under control. [neilsquest.org]
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Asthenia
Luft disease (looft) a hypermetabolic disorder of striated muscle caused by an abnormal quantity and type of mitochondria producing excessive cellular respiration; it is characterized by profuse perspiration, asthenia, progressive weakness, and an abnormally [encyclo.co.uk]
Workup
Biopsy
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Muscle Biopsy Abnormal
biopsies, abnormal biochemical production of ATP, and uncontrolled muscle metabolism some tests include basal metabolic rate and thyroid function even though the patient experiences hypermetabolism, no thyroid dysfunction occurs they focus on mitochondrial [luft-disease.wikia.com]
Luft's group based their diagnosis on morphologically abnormal mitochondria from the cells in muscle biopsies, abnormal biochemical energy production of adenosine triphosphate (ATP), and clinical uncontrolled muscle metabolism. [embryo.asu.edu]
Treatment
Edit there is no permanent cure for this disease the only type of treatment that can be given is symptomatic treatment the vitamin therapy given is in the form of Vitamins C, K, and E a high-caloric diet and protection from heat is recommended Diagnostic [luft-disease.wikia.com]
Treatment of the neuromuscular diseases has also un dergone dramatic change based on new discoveries in the fields of immunology and pharmacology. [books.google.com]
Treatment: Diet supplementation with L-Carnitine. [specialneedshomeschooling.com]
These results appear horrific to modern eyes, but the fact that people persevered with this treatment testifies to the dreadful prognosis of juvenile diabetes at that period. [diapedia.org]
[…] expression of mitochondrial proteins as a radical treatment for mtDNA mutation load. [en.wikipedia.org]
Prognosis
The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. [umdf.org]
The prognosis for MERRF varies widely depending on age of onset, type and severity of symptoms, organs involved, and other factors. Sources: Dr. Rolf Luft; The development of mitochondrial medicine. [specialneedshomeschooling.com]
These results appear horrific to modern eyes, but the fact that people persevered with this treatment testifies to the dreadful prognosis of juvenile diabetes at that period. [diapedia.org]
Etiology
Certain differences between the "coupling" data of Luft and ours and certain aspects of the "coupling" response to chloramphenicol remain unexplained, as does the ultimate etiology of the mitochondrial disease. FULL TEXT [annals.org]
Epidemiology
Choosing a future for epidemiology: I. Eras and paradigms. American J of Public Health, 86(5), 668-673, 1996 Tesh SN. Miasma and "social factors" in disease causality: lessons from the Nineteenth Century. [ph.ucla.edu]
Clin Dysmorphol. 2006 Jul;15(3):175-7 Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling Alonso J, Palacios I, Gámez A, Camino I, Frayle H, Menéndez I, Kontic M, García-Miguel P, Sastre A, Abelairas J, Sarret E, Sabado [segcd.org]
Clinical practice guide- lines for Clostridium difficile infection in adults: 2010 update by the Society for Healthcare Epidemiology of America (SHEA) and the Infectious Diseases Society of America (IDSA). [revistagastrocol.com]
Researchers considered mitochondrial disorders as rare, but epidemiological studies by several groups in the early twenty-first century such as Mar Tulin's group in Sweden, David Thorburn in Australia, and Douglas Turnbull and Patrick Chinnery in the [embryo.asu.edu]
PubMed CrossRef Google Scholar Chinnery PF, Johnson MA, Wardell TM, et al (2000a) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48 : 188–193. [link.springer.com]
Pathophysiology
Emphasis has been placed on the diagnosis and management of these disorders rather than on their pathophysiology. [books.google.com]
Abstract Over the last three decades there has been a growing interest in mitochondrial pathophysiology. [link.springer.com]
Altered GI motility in critically ill patients: current understanding of pathophysiology, clinical impact, and diagnostic approach. Nutrition in Clinical Practice 2010;25(1):16-25. Montejo JC. [revistagastrocol.com]
"Mitochondrial modulators for bipolar disorder: A pathophysiologically informed paradigm for new drug development". Australian & New Zealand Journal of Psychiatry. 47 (1): 26–42. doi : 10.1177/0004867412449303. PMID 22711881. [en.wikipedia.org]
Prevention
Prevention Federal 6794725 Closed Clinical Services for World Trade Center Responders 2015-07-01T00:00:00 2016-06-30T00:00:00 Centers for Disease Control and Prevention Federal 7665671 Closed Multi-Protein Recombinant Assay for the Diagnosis of Lyme Disease [stonybrook.edu]
In the fight against Lyme disease, treatment and prevention go hand in hand as scientists look for ways to stop the slow climb of cases and prevent long-term complications. [healthline.com]
By influencing these proteins, we can prevent the onset and progression of the disease. [familjenerlingperssonsstiftelse.se]
Luft says those active outdoors should heed advice about preventing ticks by using insect repellant with 20 percent DEET, covering up arms, legs and head, and doing full body checks for ticks after being in wooded or grassy areas. [aarp.org]
Mechanisms, prevention, and management of diarrhea in enteral nutrition. Current Opinion in Gastroenterology. 2011,27(2):152–159. Barraud D, Blard C, Hein F, et al. [revistagastrocol.com]