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Biomedical subjects

C J Epstein

Publications and source records attributed to C J Epstein.

At least 253 records · Page 14Linked to original sources
PubMed1975

Pathogenesis of one variant of sea-blue histiocytosis.

Hematopoietic cells from three siblings of a family with sea-blue histiocytosis were studied using in vitro cell culture techniques, histochemistry, and electron microscopy. Sphingomyelinase activities in cultured fibroblasts derived from these patients averaged 18 per cent of control levels. Ultrastructural examination of the sea-blue histiocytes showed numerous acid phosphatase-containing inclusions with closely packed, concentrically arranged, membrane-like lamellae with a periodicity of approximately 45 A. The inclusions are thought to result from the spatial orientation of complex lipid molecules and water. These structures are consistent with secondary lysosomes and are similar to those seen in some cases of adult Niemann-Pick disease and other cases of sea-blue histiocytosis. Extraction of lipid did not alter the blue-staining characteristics of the histiocytes. Sea-blue histiocytes were seen in liquid bone marrow cultures but did not proliferate, suggesting that the mature sea-blue macrophage is a terminal cell. We propose that partial sphingomyelinase deficiency may be one cause of sea-blud histiocytosis.

Bone Marrow↗
PubMed1975

The center-satellite system for the wide-scale distribution of genetic counseling services.

A 6-year experience with a center-satellite system for the provision of comprehensive genetic counseling services to a large geographical area is described. A series of 12 satellite genetic clinics established throughout northern and central California have brought genetic counseling services to within a 2-hour drive for most patients. These satellite clinics are largely organized by local groups (such as National Foundation-March of Dimes chapters and county health departments) but are backed by the personnel and resources of the center at the University of California, San Francisco. Assistance is generally provided by county public health nurses who collect medical records from referring physicians and pedigrees from the family. Specimens for cytogenetic or special biochemical studies are brought back to the center, but, if possible, other laboratory determinations, radiological investigations, and specialty consultations are obtained locally. Follow-up counseling may be provided by the public health nurses, and a written summary is sent to each patient or family. The socioeconomic spectrum of the patients seen at the satellite clinics is much broader than at the central clinic, and the establishment of a satellite clinic results in a great increase in the number of cases seen from the area in which it is located. Physician time per patient and cost of services per patient are substantially the same in both central and satellite clinics. Based on population figures applicable to the state of California, it is estimated that approximately 60-70 comprehensive counseling centers, each with up to 15 satellites, could adequately provide for the foreseeable genetic counseling needs of the United States.

Ambulatory Care Facilities↗
PubMed1974

Human chromosome 21 dosage: effect on the expression of the interferon induced antiviral state.

Human primary skin fibroblasts trisomic for chromosome 13, 18, or 21 and diploid human skin fibroblasts were induced for an antiviral response with human interferon. The cells that were trisomnic for chromosome 21 were three to seven times more sensitive to protection by human interferon than the normal diploid or trisomic 18 or 13 fibroblasts. The differential response in trisomnic 21 cells is consistent with the known assignment of the human antiviral gene to chromosome 21.

Alleles↗