hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report   how to cite this article: ashrafzadeh f, ghaemi n, akhondian j, beiraghi toosi m, elmi s. hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. iran j child neurol. 2013 autumn;7(4):53-57.     objective kearns-sayre syndrome is a mitochondrial myopathy, which was first descri...

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BACKGROUND Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal per...

A 25-year-old man with chronically progressive ptosis and bilateral ophthalmoplegia displayed fatigability and fluctuation of ptosis, an abnormal single-fiber electromyogram, and a markedly elevated acetylcholine receptor antibody level. Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. This case em...

BACKGROUND Individuals born with a low birth weight (LBW) have a higher risk of developing kidney dysfunction during their lifetime and sometimes exhibit focal segmental glomerulosclerosis (FSGS) lesions in their glomeruli. We herein try to obtain other pathological characteristics of LBW-related nephropathy. METHODS We retrospectively evaluated the renal pathology of four patients demonstrat...

Clinical and histopathological studies of two patients with distinctly different inherited juvenile retinal dystrophies indicate that the ocular defect in mitochondrial cytopathy involves the underlying pigment epithelium, whereas in the Laurence-Moon-Biedl syndrome the photoreceptor cells are primarily affected.

With the aid of an original semeiotics’ method we investigate the different stages of the process of Oncogenesis, according with ‘Quantum Biophysical Semeiotics’ priors, to reveal the presence of ‘Oncological Terrain’ and ‘Inherited Real Risk’ of cancer. Thos diagnosis allows a primary and pre-primary prevention with recursive effects able to reverse the genetic alteration of mit-DNA and the mi...

We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There was no consanguinity. None of the affected boys had an anatomical cardiac abnormality. In two affected brothers, histological evidence for endomyocardial fibroelastosis was documented, and in one of...