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Biomedical subjects

E F Gilbert

Publications and source records attributed to E F Gilbert.

At least 127 records · Page 7Linked to original sources
PubMed1980

Myxoid variant of epithelioid smooth muscle tumor.

The light-microscopic and ultrastructural features of a paravaginal epithelioid smooth muscle tumor that contained prominent myxoid stroma are reported. Because of its prominent myxoid component and the soft tissue location, this tumor was difficult to classify by histologic features alone. The ultrastructural studies demonstrated a constellation of features that have been accepted to be indicative of smooth muscle origin. The histogenesis and differential diagnosis are discussed. The elucidation of the biologic behavior of this peculiar variant of smooth muscle tumor awaits accumulation of further cases.

Adult↗
PubMed1980

Epidermotropism in melanoma.

Multiple malignant melanocytic lesions developed in a 54-year-old man 4 years after a primary malignant melanoma (Clark level IV) had been excised and 2 months after taking L-Dopa for Parkinsonism. Several of the recurrent lesions that showed junctional melanocytic components were considered primary melanomas and it was suggested that L-Dopa was responsible for malignant transformation of nevi and for rapid progression of the disease. The case was re-examined and on recent evidence it is likely that these lesions were epidermotropic metastases and that L-Dopa played no part in the progress of this unusual tumor.

Epidermis↗
PubMed1980

Acquired double-barrel oesophagus in epidermolysis bullosa dystrophica.

An unusual case of epidermolysis bullosa dystrophica with extensive stenosis, high perforation, and dissection of the oesophagus forming a "double-barrel" structure is described. Gastric epithelium found in the upper oesophagus is thought to be of metaplastic origin and caused by repeated minor trauma with repair.

Adult↗
PubMed1980

Mycoplasma infection in the immunosuppressed leukemic patient.

A case of severe Mycoplasma sp pneumonia possibly potentiated by methotrexate occurred in a 7-year-old child with leukemia in remission. The case typifies the diagnostic dilemma that frequently occurs in the immunosuppressed host, namely an extensive bilateral pulmonary opacification that can have many causes.

Child↗
PubMed1980

The MIller-Dieker syndrome.

Four unrelated children with the Miller-Dieker syndrome, previously referred to as the lissencephaly syndrome, have been evaluated, bringing to ten the number of patients reported with that disorder. We wish to emphasize that lissencephaly is etiologically non-specific and represents only one feature in this malformation syndrome. Other features, such as the craniofacial, neurologic, and growth abnormalities, are more helpful in diagnosing this autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1979

Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome.

A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect. The parachute mitral valve was funnel-shaped with a moderately-thick cone of fibrous tissue around the annulus and an eccentric orifice. Many forms of congenital cardiac defects have been described in the 18 trisomy syndrome. However, parachute mitral valve has not, to our knowledge, been part of the spectrum of cardiac defects in trisomy 18. Other anomalies were absent radii, omphalocele, and cleft palate and cleft lip; these have been observed previously in the 18 trisomy syndrome.

Abnormalities, Multiple↗
PubMed1979

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease.

We describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver-leaden colored hair, abnormal melanosomes and melanocytes, and abnormal inclusion bodies in fibroblasts, bone marrow histiocytes and lymphocytes which appear to represent abnormal lysosomal bodies. Because of the biochemical relationships between melanin-melanosomes and neuromelanin, we think that all the manifestations of the condition are related to and represent pleiotropic effects of a newly identified gene in man in its homozygous state. Biochemical reactions of the cells of these patients indicate presence of tyrosinase in the melanosomes.and show that the substance accumulated in cultured fibroblasts and in the bone marrow histiocytes is a PAS and Oil-red-O positive material but is Oil-red-O negative after extraction; it has the typical reactions of melanin withe the Masson and Fontana stain, but cannot be considered typical melanin, since without stain it is colorless. The ultrastructural studies showed round granules with variable matrix, similar in fibroblast and bone marrow, and with variable intensity of reaction to osmium. This mutation principally affects the neuroectoderm, but also the mesoderm.

Child, Preschool↗
PubMed1979

The Johanson-Blizzard syndrome: case report and autopsy findings.

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.

Abnormalities, Multiple↗
PubMed1979

Teratomas in children and young adults.

A review of all teratomas seen at the University of Wisconsin Hospital between 1965 and 1977 revealed that sacrococcygeal and presacral teratomas were most common. In these cases survival was best in infants less than one year old, with the exception of two cases of malignant medulloepithelioma. Testicular teratomas were predominant in the young adult male, and survival was poor. Pathology and treatment of teratomas are discussed, with an accompanying discussion of congenital anomalies associated with teratomas.

Adolescent↗
PubMed1979

Malignant transformation of polyostotic fibrous dysplasia.

We have described an unusual case of polyostotic fibrous dysplasia in a 25-year-old white woman who had malignant transformation into a mesenchymal tumor with widespread metastases and features of rhabdomyosarcoma. Masculinization also occurred with high plasma testosterone levels. A mechanism for the development of masculinizing features is discussed.

Adult↗
PubMed1979

Angiosarcoma complicating generalized lymphangiectasia.

Multifocal angiosarcoma of the lower extremities developed in a 23-year-old patient with generalized lymphangiectasia. Eighteen cases of angiosarcoma complicating congenital or idiopathic lymphedema have previously been reported. The ages of the patients ranged from 13 to 65 years, with an average age of 40 years. There was an equal sex ratio. The extremities were the principal sites of involvement. No conclusion can be made regarding blood vessel or lymphatic origin of these tumors.

Adult↗
PubMed1979

Angiosarcoma of the spleen: a report of two cases and review of the literature.

Results of the ultrastructural study of one of two cases of splenic angiosarcoma established the blood vessel origin of this tumor. Fifty-three previously reported cases were reviewed. None of the 55 patients had a history of exposure to thorium dioxide, vinyl chloride, or arsenic, which are known to be associated with hepatic angiosarcoma and other tumors. A comparison of the splenic and hepatic angiosarcomas showed that tumors not associated with exogenous material frequently involve the spleen and liver simultaneously, and that tumors associated with thorium dioxide, vinyl chloride, or arsenic commonly involve the liver with sparing of the spleen.

Adult↗
PubMed1978

Myocardial infarct in a child with systemic lupus erythematosus.

An unusual case of systemic lupus erythematosus (SLE) in a young child is reported with sudden death from myocardial infarction. The diagnosis of lupus erythematosus in this patient was made by renal biopsy at the age of 3 years. Atherosclerosis of the coronary arteries and aorta was found at autopsy with occlusion of the anterior descending branch of the left coronary artery. It is suggested that the vascular changes in this case were related to hypertriglyceridemia and prolonged prednisone therapy superimposed on a hypersensitivity vasculitis related to SLE.

Child, Preschool↗
PubMed1978

An unusual dysplasia-malformation-cancer syndrome in two patients.

We report two patients with a similar syndrome of gross malformation of a lower limb and contiguous structures due to involvement with dysplastic, teratomatous tissue. This dysplasia seems to have arisen in a paramedian position in the embryonic hindquarter at the time of lower limb-bud differentiation. Malignant degeneration at 5--7 months led to metastases and death in both cases around 1 year of age. The behavior of the dysplastic/oncoplastic tissue suggests a 2-"mutational" causal model. This is an apparently previously undescribed formal genesis syndrome.

Female↗
PubMed1978

Aortic aneurysm associated with cardiac defects in theophyline stimulated chick embryos.

Theophylline(1 ml 0.02 M in 0.15 M saline) was administered to embryonic chicks (Hamburger-Hamilton developmental stages 24.27). The drug was topically applied to the surface of the chorioallantoic membrane in the vicinity of the embryonic heart. At necropsy, 63% (44/70) of the theophylline-exposed embryos demonstrated an aneurysm in the ascending aorta. Among the cases exhibiting aortic aneurysm, 48% (21/44) of the embryos demonstrated ventricular septal defects. Four cases of truncus arteriosus were also observed. The morphogenesis and mechanism of theophylline-induced cardiac defects with accompanying aortic aneurysm may be related to the development of the conotruncal region of the heart.

Animals↗
PubMed1978

Clinical and extraneural histologic diagnosis of neuronal ceroidlipofuscinosis.

Neuronal ceroid-lipofuscinosis is manifested by visual and intellectual deterioration and seizures. Autofluorescent lipopigments are found in neural and many nonneural tissues, with characteristic staining and ultrastructural properties. Presumptive diagnosis can usually be made on the basis of history, physical examination, and electrodiagnostic tests, but in the absence of a specific biochemical defect, histologic confirmation is essential. A 6-year-old boy with the clinical appearance of the juvenile form of the disease had sea-blue histiocytes in the bone marrow, and curvilinear profiles in ultrastructural inclusions in skin biopsy tissue, cultured skin fibroblasts, and bone marrow cells.

Ceroid↗