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Pulmonary hemosiderosis may occur as a primary phenomenon, most commonly in children, or it may complicate another underlying illness such as cardiac disease or collagen vascular disease. The secondary form of pulmonary hemosiderosis is seen most frequently in the adult population. Patients with primary pulmonary hemosiderosis may be further classified into four groups: those with accompanying glomerulonephritis (Goodpasture’s syndrome); those with cow’s mild sensitivity; those with associated cardiac or pancreatic disease (myocarditis, pancreatic insufficiency); and those with idiopathic disease. Continue reading →

Cubitus is Latin for elbow. The cubital tunnel is an anatomic passageway between the bony prominence of the inside of the elbow (medial epicondyle) and the tip of the elbow (olecranon process). Through this passageway travels the ulnar nerve as it crosses behind the elbow. To keep the nerve from displacing with motion of the elbow, the tunnel is completed by a covering of tissue called fascia. There is an entrance to the tunnel formed by the medial intermuscular septum and another covering layer of fascia called the arcade of Struthers. The exit of the tunnel is created by the two muscle origins of the flexor carpi ulnaris. Continue reading →

Approximately 200 patients with defects involving the pyruvate dehydrogenase complex have been described. Most patients have a defect involving the E1-a subunit, and a male predominance is expected because the gene is located on the X chromosome. The neonatal presentation includes hypotonia, episodic apnea, convulsions, weak suck, dysmorphic features, lethargy, low birth weight, failure to thrive, and coma. Continue reading →

Fifty or more pathogenic mtDNA point mutations in tRNA genes have been reported to date. these mutations involve four distinctive clinical conditions that are maternally inherited. These conditions include MELAS, MERRF, a maternally-inherited myopathy and cardiomyopathy (MiMyCa), and a maternally inheritied syndrome of diabetes mellitus and deafness (DAD). Lactic acidosis and RRF commonly accompany these four syndromes.

Two mtDNA-associated clinical syndromes have been described that result from a primary molecular defect involving the nuclear genome. Both conditions are inherited as Mendelian autosomal traits. The first condition is the dominantly-inherited mitochondrial myopathy with multiple deletions of mtDNA. Continue reading →

Succinate dehyrodgenase is a critical step in the Krebs cycle and the first component of complex II in the respiratory chain. Several patients have been described with defects involving complex II presenting with a progressive encephalomyopathy. Continue reading →

Succinate Dehydrogenase

Fumarase Deficiency

Mitochondrial DNA Deletion

Mitochondrial DNA Point Mutation

Pyruvate Dehydrogenase

Mitochondrial defects involving the Krebs cycle (fumarase deficiency, succinate dehydrogenase deficiency) and abnormal coupling of adenosine dephosphate phosphorylation to oxygen uptake (Luft’s diseases) have been described, but the most common mitochondrial myopathies are associated with respiratory chain abnormalities. The clinical Continue reading →

Multiple acyl CoA dehydrogenase deficiency due to impairment of a riboflavin-dependent reaction common to straight and branched-chain acyl CoA molecules commonly is associated with carnitine depletion and a lipid myopathy in which skeletal muscle weakness and fatigability are prominent features. Continue reading →