The alliteratively named Percival Pott [1] wrote his epochal paper on occupational cancer. He had drawn attention to the peculiar liability of chimney sweepers to death from cancer of scrotal origin. As he wrote, “It is a disease which always makes its first attack on, and its first appearance in the inferior part of the scrotum; where it produces a superficial, painful, ragged, ill-looking sor...

Abnormal magnetic resonance spectroscopic (MRS) signals in the basal ganglia may be one of the characteristics in mitochondrial disease. We report MRS study in a family with myoclonic epilepsy with ragged-red fibers (MERRF). Their MRS studies over the basal ganglia revealed decreased N-acetylaspartate/creatine ratio and increased choline/creatine ratio in the four symptomatic members, but norma...

Starch was used to mark the resection margins of breast tissue simply by rolling formalin fixed specimens in, for instance, glove powder. Starch adheres satisfactorily to the specimen and is obvious, microscopically, if crossed polarisers are used. There is little "carry-over" of starch across the rest of the tissue, and subsequent radiology of specimen or blocks is not prejudiced. It is conclu...

Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical fe...

Microstructural study of the C49-TiSi, to C54-TiSi, polymorphic transformation has been performed to elucidate microstructural evolution and possible mechanism of the phase transformation. It has been shown that the nucleation of the C54-TiSi, is heterogeneous, and preferentially takes place at triple grain junctions or grain boundaries. The interphase interfaces between C49 and C54 disilicides...

m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with ME...

Introduction Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus. Case Presentation A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by We...

A male with mitochondrial myopathy, encephalopathy, lactic acidemia, and strokelike episodes is reported. He had also recurrent episodes of ileus. Muscle biopsy revealed ragged-red fibres. The cytochemistry of cytochrome c oxidase (CCO) showed scattered nonstained fibres, while all muscle fibres were heavily stained by immunocytochemistry using CCO antibody. These findings suggest that partical...

A 65-year-old man with a history of bilateral trabeculectomy augmented with mitomycin C underwent surgery for a scleral rupture following trauma. The site of the rupture was a posterior extension of the scleral flap. Attempted closure of a ragged scleral wound was not possible without excessive distortion and induced astigmatism. Persistent hypotony due to over drainage was treated by patching ...