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Biomedical subjects

A Sadeghi-Nejad

Publications and source records attributed to A Sadeghi-Nejad.

11 recordsLinked to original sources
PubMed1992

Use of the polymerase chain reaction mismatch technique to identify the HLA-DQw8 allele in patients with insulin-dependent diabetes mellitus.

The allelic forms of the HLA-DQB gene have been recognized as susceptibility markers of type 1 diabetes mellitus. One of these alleles, the DQw3.2 (DQw8), accounts for the well-documented association of the DQw3 locus with the disease. This report describes a method using the polymerase chain reaction mismatch technique to amplify the three different DQw3 allele sequences in 26 insulin-dependent diabetic patients. Primers were designed that differed only at one base at the growing end of their sequences. Using a common oligonucleotide primer located downstream in the first domain of the DQB gene and three other primers located at the other end of the sequence being amplified, it was possible to identify and distinguish the DQw8 allele from the other two closely related alleles (DQw7, DQw9). This method, which could be useful in excluding HLA-related susceptibility to diabetes mellitus, is rapid and nonisotopic, and indeed could be adapted to investigate any DNA sequence polymorphism.

Alleles↗
PubMed1991

Gonadotropin-secreting pineal teratoma causing precocious puberty.

A case of precocious puberty in a 7-year-old boy with a tumor of the pineal region is reported. Human chorionic gonadotropin levels were elevated in the serum and cerebrospinal fluid. Endocrinological evaluation of the hypothalamic-pituitary axis demonstrated a normal prepubertal response. The tumor was resected and proved to be an immature teratoma. Human chorionic gonadotropin levels were markedly elevated in the tumor cyst fluid. Sexual precocity regressed and human chorionic gonadotropin levels in the serum and cerebrospinal fluid fell to normal after surgery, suggesting that the precocious puberty was secondary to ectopic human chorionic gonadotropin production by the pineal teratoma.

Brain Neoplasms↗
PubMed1990

Adrenomyeloneuropathy presenting as Addison's disease in childhood.

Adrenoleukodystrophy, a sex-linked peroxisomal disorder that results in the impaired oxidation of long-chain saturated fatty acids and causes neurologic impairment, is a rare cause of Addison's disease in children. Adrenomyeloneuropathy is the name given to a biochemically identical but milder and more slowly progressive variant of adrenoleukodystrophy that affects young adults, in whom adrenal insufficiency may long precede nervous system dysfunction. The transmission of adrenomyeloneuropathy, like that of most cases of adrenoleukodystrophy, is sex-linked. Because of a preponderance of male patients among a group of patients with the onset of adrenal failure in childhood, we questioned whether this condition might be the initial manifestation of adrenomyeloneuropathy. We therefore measured the plasma concentrations of very-long-chain saturated fatty acids in eight patients with adrenal insufficiency; of these, five had elevated plasma hexacosanoic acid concentrations (range, 2.42 to 6.43 mumol per liter; mean normal level [+/- SD], 0.83 +/- 0.45), confirming the presence of adrenomyeloneuropathy. Magnetic resonance imaging showed clear evidence of brain involvement in all five patients. Reexploration of the family histories revealed additional missed cases. We conclude that the possibility of adrenomyeloneuropathy should be considered in any boy with Addison's disease.

Addison Disease↗
PubMed1989

Hypoglycemia: a pathophysiologic approach.

An exploration of the factors that sustain glucose levels in the normal fasting subject reveals that the single major component is conservation of glucose rather than gluconeogenesis. Conservation is achieved by recycling of glucose carbon as lactate, pyruvate and alanine, and a profound decrease in the oxidation of glucose by the brain brought about by the provision and use of ketones. What glucose continues to be oxidized is for the most part formed from glycerol. Gluconeogenesis from protein plays little part in the process. Fasting hypoglycemia results from disorders affecting either one of the two critical sustaining factors--the recycling process or the availability and use of ketones. Individual hypoglycemic entities are examined against this background.

Blood Glucose↗
PubMed1987

Remission in children with hyperthyroidism treated with propylthiouracil. Long-term results.

We treated 69 hyperthyroid children with propylthiouracil, of whom 53 remained under surveillance. Of these children, 34 (64%) had an initial remission, but relapses were frequent (47%). At this writing, 24 patients (45%) were in remission, with a mean duration of remission of 55 months (range, ten to 132 months). We found that the triiodothyronine level took significantly longer than the thyroxine (T4) level to return to normal. Thus, based on the T4 level alone, treatment may have been stopped prematurely in some patients, causing the relapse rate to be falsely high. The response to therapy did not depend on the size of the goiter nor on the initial levels of T4 or triiodothyronine. Six patients had adverse reactions, which were serious in two patients.

Adolescent↗
PubMed1975

Studies in type I glycogenosis: the paradoxical effect of ethanol on lactate.

Paradoxically, ethanol, which raises lactate in normal individuals, lowers the elevated levels of lactate in patients with Type I glycogenosis. We found that, although lactate levels fell, pyruvate proportionately declined even more, resulting in an increased L/P ratio which indicates that, as in the normal, the oxidation of ethanol had generated NADH. In type I glycogenosis, the increased level of pyruvate-lactate derives from glycogenolysis. We found that, despite continued glycogenolysis, ethanol had caused less pyruvate-lactate to form. The effect of an increased NADH/NAD+ ratio on the flow of carbon through the Embden-Meyerhof pathway could account for the finding, presumably by its effect on the oxidation-reduction couples with diversion of carbon toward formation of triglyceride rather than pyruvate-lactate.

Adolescent↗