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Biomedical subjects

E F Gilbert

Publications and source records attributed to E F Gilbert.

At least 163 records · Page 9Linked to original sources
PubMed1975

Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural study.

Pathological, histochemical and ultrastructural studies on 3 siblings with GM1 gangliosidosis type II are reported. These studies support a biochemical defect with profound deficiency of beta-galactosidases which results in widespread accumulation of the GM1 ganglioside and its asialo derivative in brain and to a lesser extent in viscera, as well as in storage of a keratan sulphate-like mucopolysaccharide. Striking valvular changes in the heart without myocardial involvement were seen in all cases. The histochemical and ultrastructural changes are similar to those seen in GM1 gangliosidosis type I, though less severe. Autosomal recessive inheritance without apparent ethnic predilection seems likely.

Autopsy↗
PubMed1975

Prognostic features of thyroid cancer. A long-term followup of 68 cases.

Sixty-eight cases of thyroid cancer were followed for 10 to 38 years after diagnosis. A minimum followup period of 10 years was necessary because of the long natural history of low-grade thyroid carcinoma. The prognosis of the disease was evaluated with regard to several parameters: age, sex, histologic appearance of the tumor, extent of disease, and treatment. The best prognosis was found in women less than 40 years of age with papillary carcinoma in whom there was neither extrathyroid extension nor metastasis and who were treated by surgery alone. Extrathyroidal cancer in the neck treated by radical neck dissection had a 100% survival rate at 15 years postdiagnosis. The poorest prognosis was in male patients over 60 years of age with metastatic undifferentiated carcinoma.

Adenocarcinoma↗
PubMed1975

The role of beta-adrenergic activity in the production of cardiac and aortic arch anomalies in chick embryos.

The sympathomimetic amines isoproterenol, epinephrine, norepinephrine, and phenylephrine are structural derivatives of beta-phenylethylamine and have proportionately different effects on alpha- and beta-adrenergic receptors. Chick embryos in ovo were each administered a single dose of one of these compounds at concentrations ranging from 0.4 times 10(-9) to 20 times 10(-9) mol/5 mul saline during Hamburger and Hamilton stages 20-27. In other experiments embryos were pretreated with the beta-antagonist propranolol and subsequently administered isoproterenol. 743 cardiovascular anomalies were produced. The production of cardiovascular anomalies was proportional to the degree of beta-adrenergic activity of each drug. The frequency of anomalies was significantly reduced by pretreatment with propranolol. At all concentrations tested the anomaly rate was greater in chick embryos receiving an experimental compound than in controls. The general types of anomalies included aortic arch defects, ventricular septal defect, double outlet right ventricle, aortic hypoplasia, and truncus arteriosus. These results demonstrate that activation of the beta-adrenergic receptor mechanism is directly related to the cardiovascular anomalies produced in the chick embryos.

Abnormalities, Drug-Induced↗
PubMed1975

Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review.

This paper reports sporadic occurrence of the Pfeiffer syndrome with Kleeblattschädel (KS) in a male infant who died at 6 months of pneumonia with signs of increased intracranial pressure and who was found to have hydrocephalus, polymicrogyria, cerebellar herniation, bicuspid aortic valve, a common mesentery, absence of lesser omentum, hypoplasia of gallbladder, a single umbilical artery, and multiple eye defects. This case is presumed to represent a new mutation: in other families the Pfeiffer syndrome has been dominantly inherited. The Pfeiffer syndrome is a form of acrocephalosyndactyly and impresses clinically as a mild form of the Apert syndrome. The Kleeblattschädel is an etiologically non-specific developmental field defect (DFC); about two fifths of 51 known cases have apparent thanatophoric dwarfism and about one fifth are probable or possible examples of the Pfeiffer syndrome. The KS-DFC has also been seen in the syndromes of Carpenter, Apert and Crouzon.

Abnormalities, Multiple↗
PubMed1974

Arthrodentoosteodysplasia: a genetic "acroosteolysis" syndrome.

From one personal patient and 13 reported in the literature, arthrodentoosteodysplasia (ADOD) is defined as a heritable disorder of connective tissue with the main clinical manifestations of laxity of joints, early loss of teeth, and multiple osteolytic lesions, including acroosteolysis on roentgenographic examination. These lesions probably represent "pseudoosteolysis" with faulty primary bone formation rather than true osteolysis of previously normal bone. ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple wormian bones in unusual places. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD. In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. ADOD is presumed to be caused by an autosomal dominant gene, the sporadic cases representing new mutations.

Abnormalities, Multiple↗