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Sayre Syndrome (sayre + syndrome)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

Manometric study in Kearns,Sayre syndrome

DISEASES OF THE ESOPHAGUS, Issue 1 2001
K. H. Katsanos
Although swallowing difficulties have been described in patients with Kearns,Sayre syndrome (KSS), the spectrum of manometric characteristics of dysphagia is not yet well known. Moreover, it is conceivable that a combination of various degrees of swallowing difficulties with different patterns in manometric studies exist, each playing a major role in the prognosis, natural history, and quality of life of KSS patients. An 18-year-old girl diagnosed at the age of 5 years with KSS (muscle biopsy) was admitted to our department with an upper respiratory tract infection and dysphagia. Clinical examination revealed growth retardation, external ophthalmoplegia, pigmentary retinopathy, impaired hearing, and ataxia. An electrocardiogram revealed cardiac conduction defects (long Q-T), and brain magnetic resonance imaging showed abnormalities in the cerebellar hemispheres. A manometric and motility study for dysphagia was conducted and the pharynx and upper esophageal sphincter (UES) resting pressures were similar to control group values, but the swallowing peak contraction pressure of the pharynx and the closing pressure of the UES were very low and could not promote effective peristaltic waves. Relaxation and coordination of the UES were not affected although pharyngeal and upper esophagus peristaltic waves proved to be very low and, consequently, were practically ineffective. The patient was started on treatment comprising a diet rich in potassium, magnesium, and calcium, and oral administration of vitamin D and co-enzyme Q10 100 mg daily; she was discharged 6 days later with apparent clinical improvement. [source]

Mitochondrial function and endocrine diseases

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 4 2007
R. Stark
Abstract Mitochondria are fundamental for oxidative energy production and impairment of their functionality can lead to reduced ATP synthesis and contribute to initiation of apoptosis. Endocrine tissues critically rely on oxidative phosphorylation so that mitochondrial abnormalities may either be causes or consequences of diminished hormone production or action. Abnormalities typical for diseases caused by mitochondrial DNA mutations such as Kearns,Sayre syndrome or mitochondrial encephalomyopathy, lactic acidosis, and stroke,like episodes syndrome are also seen in certain endocrine diseases. Lack or excess of thyroid hormones, major ubiquitous regulators of mitochondrial content and activity, cause muscular abnormalities and multisystem disorders. Mitochondria are a further prerequisite for steroidogenesis as well as insulin secretion and action. Recent studies showed that reduced mitochondrial ATP synthesis in skeletal muscle is a feature of certain hereditary and acquired forms of insulin resistance and diabetes mellitus. Finally, ageing is not only accompanied by various degrees of hormonal deficiency and insulin resistance but is also associated with a progressive decline of mitochondrial number and function. Future research is needed to examine whether mitochondrial abnormalities are the cause or consequence of ageing and frequent metabolic diseases such as obesity and type 2 diabetes mellitus, and to address mitochondria as a target for novel therapeutic regimes. [source]

Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study

EUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2005
C. Kornblum
The purpose of our randomized, double-blind, placebo-controlled crossover study in 15 patients with chronic progressive external ophthalmoplegia (CPEO) or Kearns,Sayre syndrome (KSS) because of single large-scale mitochondrial (mt) DNA deletions was to determine whether oral creatine (Cr) monohydrate can improve skeletal muscle energy metabolism in vivo. Each treatment phase with Cr in a dosage of 150 mg/kg body weight/day or placebo lasted 6 weeks. The effect of Cr was estimated by phosphorus-31 magnetic resonance spectroscopy (31P-MRS), clinical and laboratory tests. 31P-MRS analysis prior to treatment showed clear evidence of severe mitochondrial dysfunction. However, there were no relevant changes in 31P-MRS parameters under Cr. In particular, phosphocreatine (PCr)/ATP at rest did not increase, and there was no facilitation of post-exercise PCr recovery. Clinical scores and laboratory tests did not alter significantly under Cr, which was tolerated without major side-effects in all patients. Cr supplementation did not improve skeletal muscle oxidative phosphorylation in our series of patients. However, one explanation for our negative findings may be the short study duration or the limited number of patients included. [source]