Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0231807 (exertional dyspnea)
 3,402 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old female complained of exertional dyspnea and sleep disturbance. Her face was elongated longitudinally and the hard palate was narrow and high-arched. She has slender musculature and kyphoscoliosis. She was dysphonic and could not walk on her heels. Muscles in the face, upper arm, pelvic girdle and thigh were atrophic. Muscle weakness was detected in the neck, tibialis anterior, ilipsoas and other hip muscles, and ranged between 3- and 4 by the manual muscle testing. Electromyography showed definite myogenic abnormalities in all the muscle examined. No abnormality was found on the routine examination of blood, as was the motor and sensory nerve conduction velocity. Her vital capacity was 0.91 L, i.e., 35% of the expected value, suggesting a severe restrictive respiration. The arterial blood gas analysis revealed hypoxia, hypercapnia and desaturation. The blood gas data worsened when she was asleep, because of increased hypoventilation. Muscle biopsy of the biceps brachii showed a marked variation in the muscle fiber size. The type 1 muscle fiber was predominant. Many fibers contained nemaline rods and/or core-like structures. Some fibers contained both nemaline and core-like structures. This core-like structures were not stained with NADH-TR and ATPase reactions, and about 40-100 microns in the longitudinal extension. In this context, typical central cores have not been observed in the present case. No association of nemaline rods and core-like structures in the same muscle fiber has been reported, although a close relationship of the two structures has been suggested.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[An adult case of congenital myopathy--coexistence of nemaline rods and core-like structures]. 815 9

Among nutrients, the role of water-soluble vitamins as genetic expression modulators has not been exhaustively stu-died. Relevant information is shown herein on the present state of the art in this field. For example, vitamin C deficiency leads to a decrease in mRNA levels of apolipoprotein A1 (Apo A1) in liver. Biotin participates in the regulation, both at mRNA and protein level, of the enzymes that participate in its own metabolic cycle and of enzymes that contribute to glucose metabolism. Thiamine regulates the expression of some genes that code for enzymes using thiamine diphosphate as cofactor. Thiamine deficiency diminishes the mRNA levels of transketolase and pyruvate dehydrogenase. It has been shown in riboflavin-deficient rats that FAD regulates some acetyl CoA dehydrogenases, producing a marked increase in mRNA levels. Nicotinamide positively regulates glyceraldehyde-3-phosphate dehydrogenase when NADH is added. Vitamin B6 modulates the expression of a variety of genes that respond to hormones. Vitamin B12 increases concentrations of the enzymatic protein methionine synthetase and doe not affect mRNA levels, which implies that this protein is regulated by its cofactor post-transcriptionally. Most mechanisms involved in these regulation examples are not known, which opens new research areas for the future.
 ...
PMID:[Importance of water-soluble vitamins as regulatory factors of genetic expression]. 1199 11