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Biomedical subjects

T F Roe

Publications and source records attributed to T F Roe.

At least 37 records · Page 2Linked to original sources
PubMed1988

Vertebral bone density in children: effect of puberty.

To determine changes in bone density during growth, trabecular vertebral density and an index of spinal cortical bone were measured with quantitative computed tomography in 101 children. The children were divided by age into three groups: prepubertal, indeterminate, and pubertal. Compared with prepubertal children, pubertal adolescents had significantly higher trabecular bone density and more compact bone in the spine (P less than .001). After controlling for puberty, vertebral bone density failed to correlate significantly with age, sex, weight, height, surface area, and body mass index. The results indicate that bone density increases markedly during puberty.

Adolescent↗
PubMed1988

Effect of sex steroids on peak bone density of growing rabbits.

To determine the effect of sex hormones on bone density (BD) during growth, longitudinal quantitative computed tomography (QCT) measurements were obtained in growing, castrated New Zealand White rabbits following administration of normal saline, testosterone, or estrogen from 6 wk of age until the time of skeletal maturity. Vertebral QCT densities increased during growth, were highest at the time of epiphyseal closure, and were significantly greater (P less than 0.001) in hormone-treated animals. In vivo QCT measurements in 12 vertebraes correlated strongly (r = 0.92) with percentage of calcium per weight assessed in vitro by neutron activation analysis.

Animals↗
PubMed1986

Gonadal function in patients with galactosaemia.

Gonadal function was followed in 26 females and 12 males with galactosaemia due to deficiency of the enzyme galactose-1-phosphate (Gal-1-P) uridyl transferase over a 4 year period. Gonadal function was normal in males, but all females except two had evidence of acquired ovarian failure. Twelve females with ovarian failure documented at the beginning of this study continued to have either primary or secondary amenorrhoea on follow-up. Five of six patients, who previously had normal gonadal function developed either hypergonadotrophic hypogonadism or an abnormal response to gonadotrophin-releasing hormone (LRH) indicative of acquired ovarian damage. Seven of eight female patients, 1-12 years of age, who were evaluated for the first time had an exaggerated release of gonadotrophins during LRH stimulation tests diagnostic of gonadal insufficiency. The pathogenesis of ovarian failure remains unknown, but it appears likely that galactose or Gal-1-P is toxic to the ovary. The source of galactose metabolites, which may begin to accumulate prenatally and continue to damage the gonad in the postnatal period, is likely to be derived from the diet and from the endogenous synthesis of Gal-1-P from glucose via a variety of metabolic pathways. The testis appears to be relatively resistant to the effects of abnormal galactose metabolism.

Adolescent↗
PubMed1986

Inflammatory bowel disease in glycogen storage disease type Ib.

We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with glycogen storage disease type Ib (GSD-Ib). A chance association of these diseases in two patients is unlikely. Studies of their neutrophils showed severe chronic neutropenia (mean absolute granulocyte counts of less than 500 cells/microliter) and markedly deficient chemotactic response (less than 5% of reference values) in the patients with GSD-Ib and normal neutrophil values in four patients with glycogen storage disease type Ia (GSD-Ia). Monocyte counts and responses to chemotactic stimulation were normal in both GSD-Ia and GSD-Ib. Chronic inflammatory bowel disease appears to be associated with GSD-Ib, and neutrophil abnormalities may be involved in the pathogenesis of the bowel inflammation.

Adolescent↗
PubMed1985

Pathologic studies of the osteoporosis of Von Gierke's disease (glycogenosis 1a).

Pathologic and point count-morphometric studies of ribs, vertebrae, and iliac crests of 7 patients with Von Gierke's glycogenesis type Ia aged 5 months to 30 years were performed. The bone lesion is a pure osteoporosis (reduction in mass of bone matrix) with no evidences of significant physeal cartilage abnormality or of osteitis fibrosa or osteomalacia (reduced mineralization of bone matrix). The osteoporosis was already marked in the youngest patient studied (5 months). The discrepancy between normal and glycogen storage disease (GSD) bones increased progressively with age for ribs and was less severe for vertebrae. Available biochemical data give no indication of primary disturbance of calcium or phosphate metabolism, of parathyroid activity, or of vitamin D metabolism. Clinical data suggest that the osteoporosis of Von Gierke's disease is due to hypoglycemia or a metabolic sequela thereof, such as insulinopenia, but pathologic study of patients treated by newer techniques of maintaining euglycemia in GSD is needed.

Adult↗
PubMed1984

Neonatal cholestasis and hypopituitarism.

The diagnosis of optic nerve hypoplasia and hypopituitarism must be entertained in infants who present for evaluation of cholestatic jaundice, particularly if there is associated hypoglycaemia and wandering nystagmus. Although the hepatic dysfunction seems to resolve, the long term prognosis of liver disease in optic nerve hypoplasia remains unknown.

Cholestasis↗
PubMed1982

Idiopathic leucine-sensitive hypoglycemia syndrome: insulin and glucagon responses and effects of diazoxide.

Four children, treated with diazoxide for idiopathic leucine-sensitive (ILS) hypoglycemia of infancy, had follow-up studies at 2 to 10 yr of age to assess: (1) persistence of leucine sensitivity in later childhood. (2) pancreatic glucagon responses, and (3) the hormonal and glycemic effects of diazoxide therapy. On the third day after diazoxide therapy was stopped, the mean +/- S.E. baseline plasma glucose level (65.3 +/- 3.4 mg/dl) was significantly (P less than 0.005) lower than that of the controls (80.1 +/- 3.1 mg/dl). Corresponding mean plasma immunoreactive insulin (IRI) and immunoreactive glucagon (IRG) values were higher than control values but the differences were not significant. After the oral administration of leucine (50 mg/kg) in the ILS children, the mean plasma IRI level rose from 15.2 +/- 4.1 to 59 +/- micro U/ml, the mean plasma glucose concentration fell to 36.0 +/- 3.3 mg/dl and the mean plasma IRG level rose from 196 +/- 16 to 261 +/- 41 pg/ml. These responses were significantly greater (P less than 0.05 to 0.005) than those of control children who received 150 mg/kg of leucine. Intravenous arginine administration caused similar changes in mean plasma glucose, IRI and IRG values in the ILS and control children. During diazoxide therapy in the ILS children, the baseline mean plasma glucose level (89.5 +/- 4.2 mg/dl) was significantly (P greater than 0.005) higher than without therapy. Corresponding mean plasma IRI and IRG values decreased with therapy but the differences were not significant. Diazoxide therapy blunted the changes induced by leucine administration in the ILS children but did not significantly change their response to arginine infusion. Our results indicate that marked sensitivity to leucine persists after infancy in the ILS children. Their IRG responses are appropriate to the stimuli, indicating that their pancreatic alpha cells do not share the abnormality of the beta cells. Diazoxide therapy increases baseline plasma glucose levels and inhibits IRI responses to leucine in ILS children, but it has little if any effect on IRG responses.

Arginine↗
PubMed1982

Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome.

Multiple endocrine neoplasia, type 2b (MEN 2b) is a disorder characterized by a distinct phenotype and a predisposition for medullary thyroid carcinoma (MTC) and pheochromocytoma. Two siblings aged 3 and 6 years with MEN 2b, who had elevated plasma calcitonin levels suggesting the presence of MTC are described. Microscopic foci of MTC were found in their thyroid glands and the glands were removed. In the younger child, a metastatic focus was present in a cervical lymph node. Of 12 previously reported children with MEN 2b and MTC who were less than 10 years of age at diagnosis, five had metastases. One of the present patients is the youngest described with this complication. The high frequency of metastases in very young patients with this syndrome has not been emphasized previously. These findings indicate the need for early diagnosis of MEN 2b and the importance of thyroidectomy at the earliest possible age when MTC is suspected by calcitonin screening tests.

Adult↗
PubMed1981

Hyperthyroidism in children. A reevaluation of treatment.

The results of medical and surgical therapy were determined in 107 hyperthyroid children. After surgery, 85% of patients were rendered free of hyperthyroidism; however, 62% became hypothyroid. After medical treatment, 30% of patients were euthyroid and 2% became hypothyroid. The relapse rate, however, was higher after medical (22%) than after surgical (9%) therapy. Serious drug-related complications (arthritis-, hepatitis-, and collagen disease-like syndromes) occurred in 14% of patients. Complications occurred in 9% of surgically treated patients, but recurrent laryngeal nerve injury or permanent hypoparathyroidism did not occur. In medically treated patients, both a goiter size less than three times normal prior to treatment and a reduction in goiter size to less than two times normal at the completion of therapy correlated with a successful outcome.

Adolescent↗
PubMed1981

Rhabdomyolysis in diabetic ketoacidosis.

A 2-year-old boy became ill with diabetic ketoacidosis complicated by severe rhabdomyolysis. He completely recovered from the rhabdomyolysis, but has persistent insulin-dependent diabetes mellitus (IDDM). Serological studies showed that the patient's serum contained high titers of coxsackievirus B4 antibody, suggesting that the development of rhabdomyolysis and IDDM may have been related to this infection. A review of the records of 133 patients admitted with onset of IDDM disclosed one additional patient with marked myoglobinuria, and 11 patients with orthotolidine-positive urine in the absence of hematuria. These findings suggest that myoglobinuria may not be uncommon at the onset of IDDM.

Child, Preschool↗
PubMed1980

Nesidioblastosis and other islet cell abnormalities in hyperinsulinemic hypoglycemia of childhood.

The histologic findings are described in 16 subtotal pancreatectomies performed in patients with hyperinsulinemic hypoglycemia over a 17 year period. All patients had nesidioblastosis, defined as the presence of small packets of two to 25 islet cells scattered throughout acinar tissue and separate from islets of Langerhans. The proliferating islet cells were a mixture of beta, alpha, and delta cells. Two histologic subgroups were apparent: Group I patients had diffuse hyperplasia of the islets of Langerhans as well as nesidioblastosis, and group II patients had more subtle nesidioblastosis alone. The patients in groups I and II were remarkably age segregated. All but one of the group I patients were eight months old or younger. Group II patients ranged in age from three to 15 years. The incidence of nesidioblastosis in the patients undergoing pancreatectomy was higher than the incidence in a group of age matched autopsy controls.

Adolescent↗
PubMed1979

Characterization of circulating insulin and proinsulin-binding antibodies in autoimmune hypoglycemia.

Five patients with fasting and(or) postprandial hypoglycemia were found to have insulin antibodies in the absence of previously documented immunization. Studies on the equilibrium-binding of insulin to the autoantibodies revealed two classes of binding sites with association constants and binding capacities analogous to those of insulin antibodies from insulin-treated diabetic patients. Similarly, no consistent differences in these parameters were found in both groups of patients with insulins of bovine, porcine, and human origin. Proinsulin (C-segment directed) antibodies capable of binding bovine or porcine proinsulin were present in 10 of 10 and 9 of 10 insulin-treated diabetics serving as controls, respectively, and, when present, provide incontrovertible evidence of exogenous insulin administration. No such antibodies could be detected in the hypoglycemic patients with autoimmune insulin antibodies. The kinetics of dissociation of the insulin-antibody complexes were consistent with the existence of two classes of antibody sites. The corresponding dissociation rate constants were large enough to predict that significant amounts of free hormone may be generated by this mechanism and provide a plausible pathogenesis for the hypoglycemia in these patients.

Adult↗
PubMed1978

Scintigraphic abnormalities in glycogen storage disease.

Fifteen patients with glycogen-storage disease type 1 (von Gierke's disease) were evaluated by serial scintigraphy, with a clearly recognizable pattern of an enlarged liver with diminished radionuclide accumulation, splenomegaly with considerably increased uptake and renomegaly. In seven of these patients with GSD-1 scintigraphy demonstrated focal defects of varying size. Small or stable defects suggest benign hepatic adenomata, whereas malignant change occurred in growing large lesions. The potential malignant end-point of hepatic-cell carcinoma in GSD-1 warrants careful serial liver scintigraphy with scintiangiography on a routine basis.

Adenoma↗
PubMed1977

The pathogenesis of hyperuricemia in glycogen storage disease, type I.

After the infusion of fructose, 0.25 g/kg body weight, blood uric acid levels were significantly increased above the mean basal value in five patients with glycogen storage disease (GSD), type I (P less than 0.02-P less than 0.05). The mean fasting blood inorganic phosphate (Pi) level in the patients was 3.9 +/- 0.3 mg/100 ml and was significantly lower than the mean Pi value of 4.8 +/- 0.3 mg/100 ml of the control subjects (P less than 0.05). Blood Pi levels were significantly lower in the patients than in the control subjects at varying times after the administration of fructose (P less than 0.005-P less than 0.05). Uric acid excretion did not increase significantly in the patients after fructose was given. In contrast to normal children, the mean peak blood uric level in the patients increased significantly after the administration of glucagon (P less than 0.001). In both patients (P less than 0.005) and control subjects (P less than 0.05), mean blood Pi concentrations decreased significantly after the administration of glucagon; however, the blood Pi concentrations in the patients were significantly lower than in the control subjects. Uric acid excretion increased after glucagon administration in both patients and control subjects, but the differences in uric acid excretion between the two groups were not significant. The data in our patients after fructose and glucagon administration suggest that hyperuricemia in GSD results from enhanced nucleotide catabolism. The concentrations of hepatic Pi and ATP may be low in patients with GSD; hepatic Pi and ATP content would therefore be further diminished by the administration of fructose and glucagon. By a mechanism similar to that of fructose-induced hyperuricemia, diminished hepatic Pi and ATP content might increase the breakdown of adenine nucleotides with resultant hyperuricemia.

Adolescent↗
PubMed1977

Ambiguous genitalia in XX male children: report of two infants.

Two infants with ambiguous genitalia were recognized to have the XX male syndrome. Although most XX males have normal penile development, a review of the reported cases showed that eight of the 14 affected children, diagnosed before age 15 years, had penile abnormalities, most commonly hypospadias and/or chordee. This syndrome should be considered in children with incomplete genital differentiation. The available indirect evidence suggests that deficient testosterone production by the fetal testes accounts for the genital ambiguity. Although no explanation has been established for the presence of testes in the apparent absence of the Y chromosome, studies of the X-linked Xg blood group in XX males demonstrate a high frequency of unusual inheritance patterns. This implies that the abnormality in the transmission of maleness in affected families may also be X-related rather than autosomal.

Disorders of Sex Development↗
PubMed1975

Drug interaction: diazoxide and diphenylhydantoin.

In two children treated for hypoglycemia and convulsions with diazoxide and diphenylhydantoin, therapeutic serum diphenylhydantoin levels were not achieved despite doses of diphenylhydantoin of 17 and 29 mg/kg/day, respectively. After diazoxide was discontinued, serum diphenylhydantoin levels were within the therapeutic range in each patient with doses of 6.6 and 10 mg/kg/day, respectively. Serum diphenylhydantoin fell to undetectable levels within four days after experimental reinitiation of diazoxide administration in one patient. Although the mechanism for the effect of diazoxide on serum concentrations of diphenylhydantoin is uncertain, an increased rate of metabolism of diphenylhydantoin is suggested by our findings. Decreased plasma protein binding of diphenylhydantoin, induced by diazoxide, was observed and may play a role.

Administration, Oral↗
PubMed1975

Fructose-induced hyperuricemia: observations in normal children and in patients with hereditary fructose intolerance and galactosemia.

After the infusion of fructose, 0.25 g/kg body wt, the mean peak plasma uric acid level was 5.4 +/- 0.7 (SEM) mg/100 ml in six normal children and was not significantly increased compared with that of the mean basal value of 4.1 +/- 0.5 mg/100 ml. The mean blood inorganic phosphate (Pi) levels were significantly less than the mean fasting value after fructose. Blood glucose, lactic acid, and fructose levels were significantly increased after fructose, but serum magnesium levels did not change. In two patients with hereditary fructose intolerance (HFI) the peak blood uric acid levels were 12.1 and 7.6 mg/100 ml, respectively, after fructose. In both patients the blood glucose concentrations decreased 69 and 26 mg/100 ml below the fasting levels after fructose. The serum Pi level decreased 2.3 and 1.2 mg/100 ml below fasting values, decrements greater than the mean decrement in serum Pi of 0.8 +/- 0.2 mg/100 ml which occurred in six normal children. The mean uric acid excretion, expressed as milligrams per mg urinary creatinine, was 0.6 +/- 0.1 (SEM) before fructose in the normal children and increased significantly to 1.0 +/- mg/mg creatinine after fructose. In two patients with HFI the uric acid excretion increased four- to fivefold after fructose administration; the increased uric acid excretion in HFI exceeded that of normal children. In three patients with galactosemia, increases in blood uric acid levels after galactose ingestion were similar to those in normal children after fructose, but less than those in patients with HFI after fructose. The serum Pi levels decreased less in galactosemic patients after galactose administration than in patients with HFI after fructose infusion. These studies support the hypothesis that fructose-induced hyperuricemia results from degradation of adenosine monophosphate. This effect appears to be specific for fructose. The lack of hyperruricemia in galactosemia patients after galactose ingestion may be explained by the observation that galactose is phosphorylated more slowly than fructose.

Adult↗