Neonatal detection of generalized resistance to thyroid hormone
Article Abstract:
Generalized resistance to thyroid hormone (GRTH) is an inherited condition in which body tissues do not respond normally to high concentrations of thyroid hormone, causing delayed bone age and short stature, retardation, and learning disabilities. Increased awareness of this syndrome has resulted in a threefold increase in reported cases in the past few years. Diagnosis and treatment of GRTH at birth may help some patients to avoid the consequences associated with the syndrome. The case of an affected infant daughter of a mother who had GRTH suggests that early treatment may be beneficial, but only long-term follow-up will show whether it averted the mental and physical effects of GRTH. At this time, neonatal testing for a variety of treatable diseases, including hypothyroidism, is routine. The effects of GRTH are similar to those of untreated hypothyroidism, but no reliable test exists, and the condition can be confused with other defects, leading to inappropriate treatment. Cautious administration of graded doses of thyroid hormone after measurement of peripheral tissue responses will establish the presence of thyroid hormone resistance. Liothyronine worked faster than levothyroxine, and shortened the time to diagnose the condition and determine the dosage required for treatment. At this time, the criteria for treatment of GRTH have not been established, and in infants with high thyrotropin levels, hypothyroidism may be more harmful than treatment with thyroid hormone. Long-term observation of other family members with GRTH who do not receive treatment will help to resolve this question. If treatment proves effective in averting the effects of GRTH, a pilot study of systematic neonatal testing would help to establish its prevalence, and this would help determine the cost-effectiveness of routine neonatal screening for this condition. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1990
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Which comes first in non-insulin-dependent diabetes mellitus: insulin resistance or beta-cell failure? Both come first
Article Abstract:
The debate over whether defective insulin secretion or insulin resistance comes first in the development of non-insulin-dependent diabetes mellitus (NIDDM) may not prove useful in determining the cause of the disease. A mix of environmental and genetic factors that are complicated to measure appear to be responsible. These variables differ depending on race and ethnicity. The absolute first cause can be found in the genetic code at birth. Future debates on the subject may focus on which genes can be linked to NIDDM. By studying a specific genetic profile, researchers eventually may be able to determine how environmental factors can contribute to development of NIDDM.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1995
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HIV Genotype and Phenotype--Arresting Resistance?
Article Abstract:
More research is needed to determine whether resistance testing improves the prognosis of HIV patients. Resistance testing is used to determine whether the patient is infected with a strain of HIV that has become resistant to one or more AIDS drugs. However, the tests are expensive and most insurance companies will not pay for the test. They take several weeks to complete and may not be entirely accurate. Also, they can only be used in patients whose viral levels are relatively high.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2000
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