Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The manifestations of endocrine derangements in the musculoskeletal system in infancy and childhood are disturbances in growth and maturation and in adulthood are disturbances in maintenance and metabolism. Hypercortisolism during skeletal immaturity suppresses growth. In the adult, hypercortisolism leads to osteoporosis, osteonecrosis, and muscle wasting. Deficiency of growth hormone during skeletal development results in short stature. An excess of growth hormone in a skeletally immature individual results in gigantism, an excess in a skeletally mature individual results in acromegaly. Patients with gigantism have extreme height with normal body proportions. Musculoskeletal manifestations of acromegaly include soft-tissue thickening, vertebral body enlargement, characteristic hand and foot changes, and enthesal bony proliferation. Hyperthyroidism causes catabolism of protein and loss of connective tissue, which manifest as muscle wasting. Deficient levels of thyroid hormone cause defects in growth and development. Severe growth retardation from congenital hypothyroidism is rare because neonatal screening recognizes the disorder and leads to early treatment. The skeletal manifestation of hypergonadism in children is precocious growth and early skeletal maturation. Although the initial precocious growth spurt results in a tall child, early closure of the growth plates results in a short adult. Hypogonadism in the prepubertal child results in delayed adolescence and delayed skeletal maturation. Diabetes mellitus in childhood results in decreased growth, a phenomenon presumed to be secondary to nutritional abnormalities. Generalized osteoporosis and short stature are common. In the adult, generalized osteoporosis may accompany insulin-dependent diabetes mellitus if obesity is absent. Calcification of interdigital arteries of the foot is common in diabetics and uncommon in other conditions. Additional skeletal manifestations relate to complications of diabetes such as peripheral neuropathy and diabetic foot disease.
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PMID:Radiologic manifestations in the musculoskeletal system of miscellaneous endocrine disorders. 198 24

Serum acetylcholinesterase (AChE) and pseudocholinesterase (ChE) activity in infantile and juvenile spinal muscular atrophy (SMA) was determined. The total AChE activity was either normal or decreased in the childhood SMA (Type 1), the other SMA groups and disease controls (ALS, X-linked SMA). In the majority of SMA Type 1 cases (6/7 tested) an absence of the asymmetric A12 form was found. This was accompanied by changes in the other asymmetric and globular forms. The latter was, however, not specific for SMA Type 1 cases. The ChE activity was increased in the majority of SMA cases as well as disease controls. The asymmetric A12 ChE form was increased in all SMA Type 3 cases, the values of this form in SMA Type 1 was variable. A change in the ChE globular forms in SMA Type 1 and SMA Type 2 was a frequent finding. It is suggested that the absence of the asymmetric A12 AChE form in SMA Type 1 arises because of muscle cell immaturity and undeveloped muscle-nerve interactions. The reason of ChE changes is obscure.
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PMID:Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy. 280 Oct 18

EEG curves were evaluated in 40 children with spinal muscular atrophy. The compared group comprised 81 boys with Duchenne's dystrophy in the same age group. In the children with muscular spinal atrophy the EEG was considered abnormal for age in 42% of cases. The type of EEG changes might suggest bioelectric immaturity. In Duchenne's dystrophy the proportion of children with abnormal EEG records was 70%, and the changes were mostly focal.
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PMID:[EEG in children with spinal muscular atrophy]. 356 69

Recently described techniques for separating myosin isoenzymes have been adapted for analysis of myosins from diseased and developing human skeletal muscle. The method is highly suitable for analysis of human myosins because only 2 - 3 mg of muscle are required for routine analyses. Human embryonic/foetal myosins are electrophoretically distinct from mature skeletal myosins, and are not normally detected beyond the first month of post-natal life, except in premature infants. They have a high alkaline calcium-activated ATPase activity. This would account for the histochemical classification of foetal fibres as "Type II", although physiological differences between adult fast-twitch muscle and foetal muscle are well recognized. Foetal myosins are also synthesized in human skeletal muscle under certain pathological circumstances. Their presence in Duchenne dystrophy probably reflects the associated marked muscle regeneration, with immaturity of some muscle cells. The large amounts of foetal myosin present in many cases of infantile spinal muscular atrophy is evidence that innervation is necessary for the normal cessation of foetal myosin synthesis.
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PMID:Embryonic and foetal myosins in human skeletal muscle. The presence of foetal myosins in duchenne muscular dystrophy and infantile spinal muscular atrophy. 731 Apr 40

Life-sustaining treatment is sometimes withdrawn or withheld from critically ill newborn infants with poor prognosis. Guidelines relating to such decisions place emphasis on the best interests of the infant. However, in practice, parental views and parental interests are often taken into consideration. In this paper I draw on the example of newborn infants with severe muscle weakness (for example spinal muscular atrophy). I provide two arguments that parental interests should be given some weight in decisions about treatment, and that they should be given somewhat more weight in decisions about newborns than for older children. Firstly, the interests of the infant and of parents intersect, and are hard to separate. Parents' views about treatment may be relevant to an assessment of the infant's interests, and they may also affect those interests. Secondly, the interests of the infant in her future are relatively reduced by her developmental immaturity. In some situations parents' welfare interests outweigh those of the infant. However, I argue that this would not justify treatment limitation except in the setting of severe impairment.
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PMID:How much weight should we give to parental interests in decisions about life support for newborn infants? 2203 20