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Biomedical subjects

E F Gilbert

Publications and source records attributed to E F Gilbert.

At least 109 records · Page 6Linked to original sources
PubMed1981

Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs.

We report four patients with idiopathic hydrops fetalis (IHF), two being affected sibs; the latter represent the first reported familial occurrence. A review identified 45 additional cases that seem to represent 1/3 to 2/3 of all cases of hydrops fetalis of nonimmunologic origin (NIHF). Our patients and the other adequately documented cases permit delineation of "idiopathic" fetal hydrops; ie, that form of the condition which is not associated with any detectable fetal or maternal disorders. These fetuses are usually premature, often the product of a gestation complicated by pre-eclampsia, occasional maternal anemia, and most often polyhydramnios. The fetuses have striking edema of most tissues with effusions into serous cavities, but no other specific anatomic abnormalities. They are often hypoproteinemic, but not anemic and do not manifest signs of accelerated hematopoiesis. Results of fetal and maternal immunohematological examination are normal. Fetal mortality rates approach 100% but recent data suggest that salvage rates can be significantly improved with early diagnosis. This requires accurate diagnosis and all factors and conditions known to be associated with other types of NIHF should be excluded. A relationship between fetal hypoalbuminemia and IHF may exist and needs further investigation, IHF is sporadic in most instances; however, recessive inheritance may be indicated by occurrence in two sibs. IHF represents a distinct, frequently unrecognized and relatively common entity in need of further study and increased recognition.

Diagnosis, Differential↗
PubMed1981

The dup(3q) syndrome: report of eight cases and review of the literature.

Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, highly arched or cleft plate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizable entity.

Abnormalities, Multiple↗
PubMed1981

Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies.

Two sisters with Niemann-Pick Disease Type C suffered from a progressive CNS degenerative disease which ended with death at 8 and 7 years. Light microscopic and histochemical studies revealed storage of lipid (principally sphingomyelin) in the viscera and in the central nervous system (predominantly ganglioside). Complex lipid cytosomes containing stacked membranes, concentric laminated bodies with central dense cores and pleomorphic profiles were seen. Biochemical analysis showed an elevation of sphingomyelin in liver and spleen with normal total sphingomyelinase levels. However, by isoelectric focusing, there was a marked reduction of sphingomyelinase activity in the range of pI 4.6--5.2, whereas normal amounts of more acidic components were found. These data are compatible with autosomal recessive inheritance of a sphingomyelin lipidosis associated with deficiency of isoelectric forms of sphingomyelinase.

Central Nervous System↗
PubMed1981

Granulomatous appendicitis.

Granulomatous appendicitis as an isolated pathologic entity unassociated with systemic disease is extremely rare. Many such cases in the past have been called "primary tuberculous appendicitis." Others have been called "chronic appendicitis" or "Crohn's disease." Recent information indicates that Yersinia pseudotuberculous bacillus could also cause granulomas in the appendix. Within the past ten years the authors have come across three cases of granulomatous appendicitis. A review of the literature and retrospective study of the authors' cases suggest that the causative agent in many of these could be Yersinia. However, the authors believe that as long as there is no positive proof of the cause, such lesions should be considered granulomatous appendicitis.

Adult↗
PubMed1981

Islet cell adenomatosis: a report of two cases and review of the literature.

Two cases of nesidioblastosis in infants with severe neonatal hypoglycemia were studied by immunocytochemical staining and electron microscopic examination of the resected pancreata. There was a diffuse proliferation of insulin-, glucagon-, and somatostatin-producing cells in both cases. A 0.6-cm adenoma present in one cases consisted of insulin-, glucagon-, and somatostatin-producing cells in close proximity to ductal cells. Pancreatic polypeptides-producing cells were also identified by electron microscopy. These findings indicate that some adenomas consist of mixed islet cell types, although severe hypoglycemia is usually the major initial symptom.

Adenoma, Islet Cell↗
PubMed1981

Culture of human glomeruli from patients with metabolic or genetic diseases.

Glomeruli from two patients with metabolic disease were cultured and examined ultrastructurally. One patient with neuronal ceroid lipofuscinosis showed intracellular membrane alterations that we have never seen in normal glomerular cells. In contrast, ultrastructural features of glomerular cells from a patient with nonketotic hyperglycinemia did not differ significantly from normal. These initial findings led us to successfully culture glomeruli from a patient with Alport's syndrome (hereditary nephritis). The results of our studies suggest that several metabolic or genetic diseases that affect the kidney could be studied through culture of tissue.

Adult↗
PubMed1981

The cerebro-hepato-renal syndrome of Zellweger: similarity to and differentiation from the DiGeorge syndrome.

A child with the cerebro-hepato-renal syndrome of Zellweger, who was originally diagnosed as having the DiGeorge syndrome, was studied and transplanted unsuccessfully with cultured thymus. The pertinent literature is reviewed and the importance of distinguishing the two disorders emphasized. Autopsy studies reveal that transplanted cultured thymic fragments can attract lymphoid aggregates as early as 2 wk after transplantation.

Abnormalities, Multiple↗
PubMed1980

Malignant schwannoma: a light microscopic and ultrastructural study.

The light microscopic and ultrastructural features of 3 cases of malignant schwannoma were studied and compared with those of other types of soft-tissue sarcoma. The tumor in 1 of these cases originated in an intercostal nerve and was composed of compactly arranged spindle-shaped tumor cells. The other 2 cases showed osteogenic areas in addition to exhibiting prominent nuclear palisading, focal myxoid changes, and a rosette-like arrangement of tumor cells. The tumor in 1 of these latter cases occurred at the site of a preexisting neurofibroma. The Schwann cell origin of these tumors is strongly supported by the ultrastructural findings of basement membranes and conspicuous intercellular junctions in all 3 cases and dense-core granules in 1.

Basement Membrane↗
PubMed1980

The G syndrome--additional observations.

We are reporting the second lethal case of G syndrome occurring in a female. The developmental defects in this patient included posteriorly angulated auricles, bifid tip of tongue with a long frenulum, hypoplasia of the epiglottis and larynx, rocker bottom feet, and hypertrophied labia majora and clitoris. Additional anomalies not previously reported in the G syndrome were circumvallate placenta, and incompletely perforated hymen.

Abnormalities, Multiple↗
PubMed1980

Virilism as a late manifestation in the Bardet-Biedl syndrome.

The second case of virilism as a late manifestation of Bardet-Biedl syndrome (BBS) is described, with endocrine and histological evaluation. Both cases manifested ovulatory cycles and developed virilism in adulthood. Elevated plasma testosterone and 17-OH-progesterone were not suppressed by dexamethasone but were suppressed by medroxyprogesterone acetate. Peripheral and ovarian venous blood obtained at the time of surgery demonstrated a marked gradient for testosterone in both ovaries and for progesterone in the ovary bearing the corpus luteum. Histological evaluation of the ovaries demonstrated bilateral ovarian stromal hyperplasia with focal hyperthecosis. Bilateral ovariectomy resulted in complete correction of the endocrine abnormality, although the established hirsutism remains a mark of previous androgen excess.

Adult↗
PubMed1980

A fetus with upper limb amelia, "caudal regression" and Dandy-Walker defect with an insulin-dependent diabetic mother.

We describe the fetus delivered to an insulin-dependent diabetic woman who had had a previous large, stillborn, non-malformed male infant and a normal female infant. The present fetus had a most unusual combination of malformations which to date had not been described in diabetic embryopathy. The anomalies include: upper limb amelia, "caudal regression" with bilateral absence of the fibulae, unilateral absence of a femur and ipsilateral oligodactyly; undescended testes; atrial septal defect; multiple vertebral and rib anomalies with cervical scoliosis and right webbed neck; left cleft lip and cleft palate; severe micrognathia; left microtia with atresia of the ear canal; and central nervous system defects including hydrocephalus with the Dandy-Walker malformation, asymmetry of the lateral ventricles, abnormal frontal gyral formation, and ependymal and ganglion cell heterotopias of the spinal cord. The pathogenesis of diabetic embryopathy is discussed.

Arm↗