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Biomedical subjects

R A Ulstrom

Publications and source records attributed to R A Ulstrom.

At least 19 recordsLinked to original sources
PubMed1988

Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe.

The HLA-B and steroid 21-hydroxylase loci are known to be closely linked. Restriction fragment length polymorphisms seen after digestion of genomic DNA with MspI and TaqI with the HLA-B locus-specific DNA-probe, pHLA-1.1, were examined in 7 nuclear families with classical steroid 21-hydroxylase deficiency. In each family 2 polymorphic hybridizing bands (corresponding to the 2 HLA-B genes) were seen. In all families, TaqI-generated polymorphisms allowed for identification of children previously shown on clinical and biochemical criteria to be affected by 21-hydroxylase deficiency from their unaffected sibs. The results were in complete agreement with the clinical diagnoses. Among the unaffected children, carriers could be distinguished from non-carriers in all cases by TaqI polymorphisms. MspI-generated polymorphisms allowed for full identification of genotypes in 5 families. In one family, MspI-generated polymorphisms could be used to identify affected from unaffected children, but could not distinguish between carriers and non-carriers. In another family, no identification of genotypes was possible by MspI-generated polymorphisms alone. The HLA-B locus-specific DNA-probe, pHLA-1.1, can be used for diagnosis and genotyping of individuals from families with 21-hydroxylase deficiency. This technique can be used as an alternative to HLA-serotyping, or in situations where HLA-serotyping is technically difficult, for example in chorionic villus samples.

Adrenal Hyperplasia, Congenital↗
PubMed1988

Hypoglycemia in pediatric renal allograft recipients.

Symptomatic hypoglycemia developed 5 to 45 months after transplantation in nine children who had renal transplants before 6 years of age. During hypoglycemia, serum glucose levels ranged from 14 to 39 mg/dl (0.8 to 2.1 mmol/L). Hypoglycemic episodes occurred between 1.7 and 7.5 years of age. Six patients had generalized seizures; the remaining three had diaphoresis with stupor or lethargy. None of the children had serious infections, diabetes, congenital defects of glucose metabolism, or a history of treatment with insulin or oral hypoglycemic agents. Six patients had hypoglycemic symptoms after a prolonged fast, and at least four had ketosis. Eight of the nine patients were receiving propranolol when hypoglycemia occurred. No differences in the daily prednisone dose, the number of transplant rejection episodes, or the frequency of treatment with medications other than propranolol were noted between hypoglycemic patients and 56 normoglycemic age-matched renal transplant recipients. All hypoglycemic patients were subsequently treated with frequent feedings and discontinuation of propranolol. No further hypoglycemic episodes have occurred in eight of nine patients. Symptomatic hypoglycemia should be recognized as a potentially devastating complication of pediatric renal transplantation.

Child↗
PubMed1986

Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency.

A 3-year-old child with glycogenosis due to hepatic phosphorylase kinase deficiency is described. His clinical presentation was unusually severe. Biochemical studies revealed a lack of hypoglycemia, the presence of marked ketosis and hyperlipidemia, and a normal glycemic response to glucagon and to loading with galactose, fructose, and alanine. The ketosis was reversed by glucagon administration. Changes in plasma concentrations of lactate, pyruvate, beta-OH butyrate, and alanine in response to glucagon, galactose, fructose, and alanine administration are reported. The child responded poorly to a high protein diet. His condition improved markedly with a high carbohydrate diet. The significance of the findings is discussed.

3-Hydroxybutyric Acid↗
PubMed1985

Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.

A liver transplant was performed on a 4-year-old female in liver failure caused by hereditary tyrosinaemia, with hepatocellular carcinoma following a negative evaluation for metastases. However, serum alpha-fetoprotein levels never returned to normal after the surgery. Urinary succinylacetone (SA) was detected in her urine prior to transplantation despite strict adherence to a low-tyrosine diet. Other patients with severe liver disease awaiting liver transplantation do not excrete SA in the urine. She continued to excrete SA during the postoperative period despite normal liver functions. Oral tyrosine loading resulted in significant elevation of SA excretion. Possible explanations for this observation and clinical and therapeutic relevance are discussed.

Carcinoma, Hepatocellular↗
PubMed1984

Effect of human growth hormone on adrenal androgens in children with growth hormone deficiency.

The effect of human growth hormone (hGH) on adrenal androgen secretion was assessed in 7 patients (5 males, 2 females) with GH deficiency but normal ACTH-cortisol function. Patients ranged in age from 9 5/12 to 14 8/12 years (median 12 years). Plasma concentrations of dehydroepiandrosterone-sulfate (DHEA-S) and urinary excretion of 17-ketosteroids (17-KS) and free cortisol were determined before, during short-term (2 U/day X 3) and after long-term (6 months) treatment with hGH. No significant change was noted in the plasma concentration or urinary excretion of steroids during the short-term administration of hGH. Despite a significant increase in growth velocity during 6 months of hGH therapy (8.2 vs. 4.5 cm/year, p less than 0.01), the plasma concentrations of DHEA-S and the urinary 17-KS and free cortisol levels were unchanged. These results fail to substantiate a role for hGH in the physiologic control of adrenal androgen secretion. Thus, the low plasma levels of adrenal androgens sometimes seen in GH-deficient patients are not due to the absence of GH per se.

17-Ketosteroids↗
PubMed1982

Resistance to thyroid hormones. A disorder frequently confused with Graves' disease.

Five patients from two unrelated families were found to have goiter and elevated serum concentrations of thyroxine (T4) and triiodothyronine (T3) without symptoms or signs of hyperthyroidism. All had measurable concentrations of thyroid stimulating hormone (TSH), and in four who were tested, there was an increase in TSH concentration following thyrotropin releasing hormone (TRH) administration. We believe these five patients have general resistance to the effects of thyroid hormones and need elevated concentrations of T4 and T3 to maintain a eumetabolic state. Study of nuclear T3 receptors from cultured fibroblasts of one patient disclosed a normal equilibrium association constant and a maximal binding capacity that was greater than normal control values. These findings suggest that thyroid hormone resistance in this patient is not due to a decrease in either the affinity or the number of specific nuclear T3 receptors. This disorder can easily be confused with Graves' disease and result in inappropriate treatment for hyperthyroidism, as was the case in three of our patients.

Adult↗
PubMed1980

Urine C-peptide, beta-cell function, and insulin requirement.

Urinary C-peptide excretion was investigated as a method for monitoring beta-cell function in diabetic patients and for studying the contribution of endogenous insulin production to diabetic control. Control subjects had variations in serum and urine C-peptide immunoreactivity that correlated with basal and meal-related insulin secretion. In a group of well-controlled juvenile diabetic patients, those receiving high doses of insulin had low or negligible C-peptide excretion, whereas most patients with low exogenous insulin requirements had near-normal urinary C-peptide excretion. Patients treated for diabetic ketoacidosis had recovery of beta-cell function as measured by C-peptide immunoreactivity in serial urine specimens. Thus, measurement of urinary C-peptide excretion is a simple technique that may be useful in assessing endogenous insulin production in juvenile diabetic patients.

Adolescent↗
PubMed1978

Surgical management of islet-cell adenoma in infancy.

Persistent neonatal hypoglycemia is a potentially serious condition which should be recognized promptly, investigated thoroughly, and treated expeditiously. Islet-cell adenoma causing hypoglycemia in infancy is very unusual. Only 23 cases have been reported in the literature. This report documents eight cases of our own and summarizes diagnostic methods, proper medical preparation, and fundamental surgical management. Prompt surgical intervention is emphasized, as this will relieve hypoglycemia and may be important in preventing irreversible central nervous system damage. We are of the opinion that any infant with unremitting hypoglycemia, a high corrected insulin/glucose ratio, and failure to respond to maximum diazoxide therapy will require partial pancreatectomy. Identification of the adenoma at the time of operation is unlikely, and blind pancreatectomy and/or reoperation is not unusual.

Adenoma↗
PubMed1977

Solitary maxillary central incisor and short stature.

Seven patients, three males and four females, each with a single (unpaired) deciduous and permanent maxillary central incisor, were studied. All the males and two the female children were growth hormone deficient. One adult woman and a female infant with a single maxillary central incisor were short in stature but had normal growth hormone responses. No other dental anomalies or pituitary-hypothalamic dysfunctions were found. The dental anomaly was not familial. No eye abnormalitis were present in the patients or their families.

Adult↗