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 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...

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.

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...

LETTER TO THE EDITOR: Autism is a wide spectrum disorder and a lot of factors play role in the etiology. Autism may accompany some genetic disorders such as fragile X, tuberosclerosis, neurofibromatosis and phenylketonuria [1]. However, the absence of sufficient evidence on the etiological roles of environmental, neuroanatomical and biochemical factors has shifted the direction of research to g...

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...