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Biomedical subjects

E F Gilbert

Publications and source records attributed to E F Gilbert.

At least 91 records · Page 5Linked to original sources
PubMed1983

Leukemia presenting as central nervous disease without bone marrow involvement.

A case of a nine-year-old boy who presented with central nervous system leukemia is described. This case was unusual because he presented without initial bone marrow involvement. Bone marrow involvement was documented 15 months after central nervous disease was diagnosed. Immunologic marker studies revealed that the spinal fluid blasts lacked definable B-cell, pre-B cell, T-cell, and pre-T cell surface markers. The marker studies helped to define the nature of the disease process.

Bone Marrow↗
PubMed1983

Cardiovascular malformations associated with administration of prenalterol to young chick embryos.

Prenalterol (levo-1-[4-hydroxyphenoxy]-3-isopropyl-amino-2-propanol), a new stimulant of cardiac beta-adrenergic receptors in man, induces cardiovascular malformations when topically administered to 2 1/2- through 5 1/2-day chick embryos (Hamburger-Hamilton stages 17-27). Ventricular septal defects (VSD) located in the middle portion of the conal septum and classified as the simple, punched-out type VSD without septal malalignment were the predominant malformations observed throughout the developmental period tested. Arch malformations of the aortic circulation were also observed throughout the test interval, while anomalies of the pulmonary system were observed only at Hamburger-Hamilton stages 17 and 26-27. At stage 25 prenalterol demonstrated an acute toxicity significantly less than (1/50-1/20) epinephrine (P = .035 at concentrations of 8-10 mM) but was relatively equipotent with epinephrine in producing cardiovascular malformations. The effective median concentrations of the two agents were comparable (0.5-1.0 mM). The spectra of malformations induced by prenalterol and epinephrine were qualitatively similar. Malformations included absence of the right and/or left third aortic arch (innominate arteries), persistent remnant of the left fourth aortic arch, and VSD. These results support a previously proposed theory by these investigators that hyperstimulation of cardiac beta-adrenergic receptors in the chick embryo produces cardiovascular malformations.

Abnormalities, Drug-Induced↗
PubMed1983

External malformations in chick embryos following concomitant administration of methylxanthines and beta-adrenomimetic agents: 1. Gross pathologic features.

The objectives of this report are to document external malformations observed in chick embryos following concomitant administration of methylxanthines (caffeine, theophylline) and beta-adrenomimetic agents (isoproterenol, epinephrine) and to suggest reasonable explanations for the anomalies. Administration of caffeine or theophylline alone (2.5-5.0 mg/egg) retarded growth in a dose-dependent fashion. Doses of 5.0 mg caffeine and theophylline produced beak malformations in 4.9% and 57.1% of embryos, respectively. Limb malformations, seen in low frequency (3.6% in 56 embryos) after administration of 1 microgram isoproterenol, were not seen in 224 methylxanthine-treated embryos. Structural defects following coadministration of methylxanthines and beta-adrenomimetics were frequently observed in limbs (primarily lower limbs with predilection for left-sided oligodactyly) and beak. Other findings included limb hematomas, hygromas in the nuchal region, and prominent generalized edema. The most dramatic effects observed in this study were those induced by concomitant administration of 2.5 mg caffeine and 1 microgram isoproterenol. This combination produced at least one of the embryopathies listed above in 87.9% of treated embryos and frequently induced beak (24.2%) and lower limb defects (75.8%) in addition to nuchal hygromas (9.1%). Similar severe malformations were observed following administration of 3.8 mg theophylline with 1 microgram epinephrine. Embryos that died within 12-48 hours following drug insult demonstrated marked cardiac dilation, apparently due to congestive heart failure. The results of this study suggest that methylxanthines and beta-adrenomimetic agents are synergistic in their action in the developing chick. Doses of alpha-adrenomimetic agents that were used in this study were not synergistic with methylxanthines. Increased intracellular cyclic adenosine monophosphate (AMP) is offered as an explanation for digital anomalies due to inhibition of proximodistal development of limbs. Increased intracellular cyclic AMP may also explain limb hypoplasia and loss of intermediate limb structures as a result of inhibited mitosis and/or necrosis of embryonic tissue.

Abnormalities, Drug-Induced↗
PubMed1983

Hunter' syndrome. Ultrastructural features in young children.

Ultrastructural abnormalities in two stepbrothers with Hunter's syndrome, ages 1 and 4 years, were found in cortical neurons, neurons of the myenteric plexus, and skin. Inclusions containing little or no electron-dense material were noted in most tissues, and lamellar figures were restricted to cortical neurons and neurons of the myenteric plexus. These changes correlate with those described in tissues obtained at post mortem.

Cerebral Cortex↗
PubMed1983

Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency.

Infants with subacute necrotizing encephalopathy or Leigh's encephalopathy usually are first examined before the age of 2 years with degenerative neurologic disease with variable clinical appearance. Necrotizing lesions of the CNS occur with special predilection of the gray matter. Biochemical defects of thiamine triphosphate associated with an inhibitor of the enzyme thiamine pyrophosphate-adenosine triphosphate phosphoryltransferase and deficiency of the enzyme pyruvate carboxylase have been found. Progressive neurologic deterioration and death occurred in an infant with pyruvate carboxylase deficiency. Pathologic studies showed extensive necrotizing areas of the gray matter, mamillary bodies, and midbrain and basal ganglia. Biochemical studies on the liver confirmed a deficiency of pyruvate carboxylase.

Brain↗
PubMed1983

Light- and electron-microscopic observations of theophylline-induced aortic aneurysms in embryonic chicks.

These investigators have previously developed a model for inducing aortic aneurysms by administering theophylline or caffeine to embryonic chicks. This report describes light-microscopic and ultrastructural changes in aortic walls of theophylline-treated embryos relative to saline-treated controls. Light-microscopic examination of areas of permanent aortic dilatation revealed thinning of the medial layer due to a marked decrease in the number of medial cells. Electron-microscopic observation of aortic walls with aneurysms revealed widely scattered medial cells with scanty cytoplasm containing poorly developed microorganelles, a markedly widened intercellular space with dispersed elastic and collagen fibers in the tunica media, and a disruption of endothelial cells. It is suggested that the induction of aortic aneurysms by theophylline in chick embryos may be attributed to two factors: 1) atrophy and subsequent hypoplasia of the aortic media possibly resulting from an elevated intracellular cyclic adenosine 3',5'-monophosphate, which inhibits mitosis in medial cells, and 2) altered hemodynamics due to the action of theophylline on the embryonic heart.

Animals↗
PubMed1983

Menkes' syndrome with vascular and adrenergic nerve abnormalities.

Using the formaldehyde-induced fluorescence method, we found a peculiar rosary-type swelling of the adrenergic axons in the peripheral nerves, deficiency of the perivascular adrenergic plexuses in the visceral and cerebral arteries, and reduction of noradrenergic fluorescence in the tegmental and hypothalamic regions of a 3-year-old boy who had typical Menkes' syndrome (kinky hair syndrome). The nigrostriated neurons retained moderate intensity of fluorescence compared with those in postmortem (control) brains. Histologically, marked dilatation of the visceral, meningeal and cerebral arteries were noted. Copper deficiency, the cause of this disease, induces failure of central and peripheral noradrenergic neurons and leads to abnormal vasodilatation.

Axons↗
PubMed1982

Cyanotic congenital heart disease with malignant paraganglioma.

A malignant paraganglioma of the subclavian (supra-aortic) area and organ of Zuckerkandl with metastases to the liver and pancreas was discovered at autopsy in a 22-year-old man with known transposition of the great arteries. Light microscopy showed the typical "Zellballen" pattern and Grimelius stain showed intracytoplasmic argyrophilic granules, which appeared ultrastructurally as electron dense granules. Review of the literature disclosed 59 previously reported cases of hypoxia associated with endocrine tumors. The case presented is believed to be the first example of a subclavian paraganglioma associated with hypoxemia. One previous case of a paraganglioma arising in the organ of Zuckerkandl that occurred in a hypoxic state has been reported. The possibility of cyanotic congenital heart disease with chronic long-standing hypoxia, predisposing to the development of paraganglioma with malignant transformation is presented.

Adult↗
PubMed1982

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.

The brain findings at autopsy of an 18-year-old male with FG syndrome were megalencephaly, midline fusion of mammillary bodies, heterotopia of neuroglial tissue in the 7th and 8th nerves, and ependymal cell replacement by neuroglial tissue as well as a diffuse defect of neuronal cell migration evidenced from pachygyria of many gyri, dysgenesis of cerebral cortex, and heterotopia of neurons in the white matter of the centrum ovale. A cousin, studied at 20 weeks' gestational age, had gross turridolichocephaly with enlarged cranium and also multiple minor external and internal anomalies. An affected brother of this fetus died at 17 months of complications of a congenital heart defect and CNS dysfunction. X-linked inheritance of the FG syndrome is confirmed.

Abnormalities, Multiple↗
PubMed1982

Hodgkin's disease and non-Hodgkin's lymphoma in children and young adults: a clinicopathologic study of 127 cases.

One hundred twenty-seven cases of non-Hodgkin's lymphoma and Hodgkin's disease in children and young adults at the University of Wisconsin Hospital between 1969 and 1980 have been reviewed. Nodular sclerosing was the most frequent histologic type in patients with Hodgkin's disease. Malignant lymphoblastic lymphoma (MLLB) was the most common type of non-Hodgkin's lymphoma. The relationship of the histological pattern to age and sex as well as clinical behavior and survival are discussed.

Adolescent↗
PubMed1982

Congenital generalized fibromatosis. Case report and literature review.

A typical case of congenital generalized fibromatosis (CGF) is presented and the literature on this entity is reviewed. CGF is a rare condition which is probably heritable. It is manifested in infancy. Because of the unusual biological behavior of the fibromata, two clinical courses occur--death, if vital viscera are involved, or regression of the lesions and survival without significant disability. Including the present example, 63 cases have been reported.

Bone Neoplasms↗