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Biomedical subjects

E F Gilbert

Publications and source records attributed to E F Gilbert.

At least 55 records · Page 3Linked to original sources
PubMed1986

Immunohistochemical studies of rhabdomyosarcoma.

We performed immunoperoxidase studies in 29 cases of rhabdomyosarcoma from the Intergroup Rhabdomyosarcoma Study I using antisera against actin, myosin, myoglobin, alpha-actinin, and tropomyosin. Although each of these antisera reacted with some of the tumors, none reacted with all of the tumors, and some tumors showed no reactivity. Antimyosin reacted with more tumors than any of the others, while antiactin and antimyoglobin were about equally sensitive. Antitropomyosin and anti-alpha-actinin reacted with few of the tumors. The better-differentiated tumors were more likely to react compared with the poorly differentiated tumors.

Actins↗
PubMed1985

Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac.

We present case material and a literature survey to document the association between ectopia cordis and band disruption anomalies. The occurrence of thoracic ectopia cordis with a cephalic-pointing cardiac apex suggests an arrest of cardiac descent at 3 weeks of development, consistent with our finding of ectopia cordis in a 28-day human embryo. Mechanical compression secondary to rupture of the chorion and/or yolk sac at 3 weeks of gestation would interfere with normal cardiac descent and compress the chest, yielding thoracic and pulmonary hypoplasia. Congenital heart defects associated with ectopia cordis may represent deformations secondary to mechanical distortion of the developing heart following early rupture of the chorion and/or yolk sac. As is illustrated by our clinical specimens, tethering of the heart to periumbilical structures by bands could yield thoracoabdominal ectopia cordis. The milder anomaly of cleft sternum, which is also associated with band disruptions, may occur later in development following rupture of the chorion, yolk sac, or amnion.

Abnormalities, Multiple↗
PubMed1985

Further comments on the lissencephaly syndromes.

Detailed clinical, pathological, and cytogenetic investigations of patients with lissencephaly over the past several years have demonstrated the existence of at least eight distinct conditions with variable genetic implications. In several of these disorders, especially chromosomally normal MDS, ILS, and CCL, too few patients have been reported to permit citation of accurate recurrence risk figures. Accordingly, we wish to begin a registry of patients with lissencephaly of all types for the purpose of developing such risk figures and request that any available information be sent to one of us (W.B.D. or J.M.O.).

Abnormalities, Multiple↗
PubMed1985

Autopsy findings in a stillborn female infant with the Osebold-Remondini syndrome.

The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies. This is an autosomal dominant condition. In the family described by Osebold et al [1985], a female infant with the Osebold-Remondini syndrome was still-born. Cause of fetal death could not be determined, and, at the moment, cannot be assumed to be a pleiotropic manifestation of this gene. The skeletal abnormalities in the infant are described and illustrated. Histologic structure of bone (proximal femur, vertebral bodies, iliac crest, and costal junctions) was studied by light and electronmicroscopy. Several histologic and ultrastructural abnormalities found suggest that the Osebold-Remondini syndrome may involve more generalized anomalies of bone development than the clinical picture might suggest.

Abnormalities, Multiple↗
PubMed1985

The effects of L- and D-carnitine administration on cardiovascular development of the chick embryo.

A single 1.0-ml volume of L- or D-carnitine solution, at several selected mmole concentrations, was applied to the extraembryonic membranes of 3- and 4-day chick embryos in ovo. Hamburger-Hamilton stages of chick development ranged from 17 to 23. During the 17-18th days of incubation, embryos were dissected, and both survival and intracardiac anomaly rates were determined. Only at extremely high doses, both stereoisomers of carnitine exhibited a statistically significant toxigenic effect (p less than 0.001) as measured by a sharp decrease in survival rate when compared to chick Ringer's saline controls. Furthermore, since the anomaly rates became significant only near the LD50's, this indicated that intracardiac anomalies were induced only at toxic doses. Therefore, it is suggested that cardiovascular teratogenicity may be the result of toxicity. Below the LD50, anomaly rates were not significantly different from those of control embryos. In comparison, L- and D-carnitine were significantly different from one another (p less than 0.001) both in survival rate and percent affected embryos at a dose of 0.5 mmole. In summary, exogenous carnitine administration to the chick embryo does not appear to be deleterious to the developing cardiovascular system.

Animals↗
PubMed1985

An aborted human fetus with truncus arteriosus communis--possible teratogenic effect of Tedral.

We recently performed a detailed anatomicopathologic examination on an aborted human embryo whose mother had taken four tablets of Tedral (one tablet of Tedral contains 130 mg theophylline, 25 mg ephedrine, 8 mg phenobarbital) for an upper respiratory tract infection when the embryo was at approximately 30 days of development. On the same day, the mother developed acute chest pain and a fast, irregular heart beat. The abortion occurred at approximately 80 days of gestation. The heart of the fetus showed truncus arteriosus (Van Praagh type A1). Although no direct cause and effect relationship was proven in this case, the possibility of a teratogenic effect of Tedral during early pregnancy is considered.

Abnormalities, Drug-Induced↗
PubMed1985

Narrow trachea in mucopolysaccharidoses.

Nine of 56 patients with mucopolysaccharidoses (MPS) showed small tracheal diameters on their frontal chest radiographs. Autopsy of an MPS I-H (Hurler disease) patient demonstrated that the small calibre was secondary to deposition of glycosaminoglycan (mucopolysaccharide). Autopsies of two patients with other storage diseases, one with geleophysic dysplasia and one with mucolipidosis II, also exhibited compromise of their airways because of storage material accumulation.

Adolescent↗
PubMed1985

Changes in carnitine levels in the embryonic chick heart during development.

Carnitine levels in the embryonic chick heart were measured. The amount of total carnitine, free plus short chain acyl carnitine (acid-soluble fraction), and long chain acyl carnitine (acid-insoluble fraction) were examined at days 7, 11, 17, and 21 of incubation. These concentrations were found to correspond favorably with data from previous investigators with regard to variations in palmitoylcarnitine transferase enzyme activity, mitochondrial chain elongation activity, and palmitic acid oxidation.

Animals↗
PubMed1985

Potentiating effects of caffeine on the cardiovascular teratogenicity of ephedrine in chick embryos.

Ephedrine was administered to 3-day chick embryos (Hamburger-Hamilton developmental stage 19) together with caffeine at doses where each agent alone caused minimal embryotoxicity. Embryos were examined for malformations on day 14 of incubation. The teratogenicity of ephedrine in the chick cardiovascular system was significantly potentiated by caffeine at a dose as low as 0.5 mumol (0.1 mg/egg; 2 mg/kg egg).

Animals↗
PubMed1985

A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.

A case of XY gonadal dysgenesis with renal failure is presented. Diagnosis was delayed four years post renal transplantation. A uterus, fallopian tubes, and vagina were present with a combined gonadoblastoma and dysgerminoma found in the right streak gonad. Six other similar cases have been reported, including concordance in a pair of monozygous twins. Because of the risk of gonadal malignancy, the serum FSH concentration should be determined in phenotypic females with primary amenorrhea and chronic renal disease. Due to a physiologic reduction in the serum FSH concentration in agonadal individuals between 5 and 11 years of age, a karyotype may be required to detect affected individuals during this interval. Gonadectomy should be performed in all cases of XY gonadal dysgenesis. A urinalysis and serum creatinine concentration should be obtained in girls presenting with XY gonadal dysgenesis. The serum FSH concentration and karyotype should be determined in females presenting with congenital nephrotic syndrome.

Adolescent↗
PubMed1985

Carnitine deficiency.

Carnitine is an essential cofactor in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Carnitine is metabolized from lysine, trimethyllysine and butyrobetaine. Butyrobetaine undergoes hydroxylation in the liver, brain and kidney to form carnitine which in turn is transported via the plasma to the heart and skeletal muscle where it is important for allowing beta oxidation of fatty acids. Three clinical forms of carnitine deficiency have been described: myopathic, systemic and mixed forms. Carnitine deficiency results in accumulation of neutral lipid within skeletal muscle, myocardium and liver. Ultrastructurally, myofibrils are disrupted and there is an accumulation of large aggregates of mitochondria and lipid deposits within the skeletal muscle and myocardium. Carnitine therapy has been effective in the treatment of the myopathic and some cases of systemic and mixed forms. Several syndromes of secondary carnitine deficiency have been described; these may be secondary to genetic defects of intermediary metabolism and to other conditions, particularly following hemodialysis.

Animals↗
PubMed1985

Angiosarcoma of the liver and spleen in an infant.

A 14-month-old white male was diagnosed as having angiosarcoma of both the liver and spleen. At 17 months he developed pulmonary metastases and died. There was no apparent environmental or hormonal exposure either prenatally or during infancy. The malignant tumor probably arose from its benign counterpart (hemangioendothelioma), which was found in the spleen. This is the fifth case reported of splenic angiosarcoma in the pediatric age group (18 years or younger).

Adolescent↗
PubMed1985

Familial hemophagocytic lymphohistiocytosis: report of four cases in two families and review of the literature.

Four cases of familial hemophagocytic lymphohistiocytosis (FHL) from two families with first cousins affected in family and siblings in another are presented. The pathological findings, including neuropathology, transmission (TEM), and scanning electron microscopy (SEM), are discussed. This is the first study of this condition to include TEM and SEM. One hundred and fifty-nine cases from the literature, including the author's four cases, are reviewed. The familial occurrence in 116 instances in sibships and consanguinity in 13 of the 73 families support autosomal-recessive inheritance. In five families there were affected first cousins--an observation not readily explained by autosomal-recessive transmission. We suggest that the genetic aspects of FHL be more fully explored and that in future cases parents and other relatives be included in the hematologic, immunologic, and genetic evaluation.

Blood Cells↗
PubMed1985

Reactive hemophagocytic syndrome.

Two cases of reactive hemophagocytic syndrome (RHS) are reported, and the clinical and pathological features are compared with other histiocytic proliferative disorders, including familial hemophagocytic lymphohistiocytosis (FHL) and malignant histiocytosis. RHS can be associated with a variety of infections, including viral, bacterial, fungal, and parasitic. RHS may also be familial as exemplified by our 2 cases in siblings. The isolation of an effective agent appears to be the only criterion by which a diagnosis of RHS can be made.

Acquired Immunodeficiency Syndrome↗
PubMed1985

Omenn disease: termination in lymphoma.

Two brothers with Omenn's disease were seen at the University of Wisconsin. The first died at 3 months. The second developed a chronic measles infection from vaccination with a live virus to which he did not produce an antibody. He received transfer factor and irradiated leukocyte infusions without benefit. After death a lymphoma was found in virtually all tissues. It is unclear whether the treatment predisposed the child to or caused the cancer. Omenn's disease is an autosomal-recessive disorder of the immune system that leads to early death. The pathogenesis remains unknown.

Histiocytosis, Langerhans-Cell↗
PubMed1985

Budd-Chiari syndrome presenting as sudden infant death.

Budd-Chiari syndrome rarely occurs in infants. We report a case of a 1-month-old female infant who presented as a sudden infant death and was found at autopsy to have thrombi occluding both hepatic veins. Microscopically the liver showed perivenular fibrosis extending into the lobule and central venous congestion consistent with Budd-Chiari syndrome.

Budd-Chiari Syndrome↗
PubMed1985

Cardiovascular teratogenicity of ephedrine in chick embryos.

The cardiovascular teratogenicity and embryotoxicity of ephedrine was studied in chick embryos treated after 2.5-6 days of incubation (Hamburger-Hamilton developmental stages 17-28). The embryos were examined on day 14. Cardiovascular malformations were observed in 29% (29/101) of treated embryos. Complicated anomalies, such as double-outlet right ventricle (DORV), truncus arteriosus communis (TAC) or overriding aorta with ventricular septal defect (VSD) were seen frequently in embryos exposed to the agent on day 3 of incubation. Malformations were induced by ephedrine at a dose as low as 1 mumol/egg.

Animals↗