Circulating anticoagulant in patients with Gaucher's disease?
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Biomedical subjects
Publications and source records attributed to H Joshua.
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Migration inhibition factor (MIF) activity, expressed as a migration index, was studied in the sera of 48 chronic lymphatic leukemia (CLL) patients and 48 healthy controls. MIF activity was detected in the sera of 50% of the CLL patients. The medical condition of patients in advanced clinical stages (III and IV) and with detectable MIF activity was more stable (after 18-mo follow-up) than was that of the patients in advanced stages but without detectable MIF activity. No relationship was found between the clinical stage of the disease, absolute lymphocyte count, and MIF activity.
In 1974 and 1976, two outbreaks of paralytic poliomyelitis occurred in a vaccine-protected infant population in the Gaza Strip. To test the possibility of an increased susceptibility to the disease, the frequency of HLA antigens was studied in 58 of the affected children and compared with 113 control subjects. HLA-AW19 and -B7 were found more frequently in the affected children. These differences were not statistically significant but are consistent with the possibility that patients with the paralytic disease may have an HLA genetic makeup different from that of the rest of the population.
The HLA antigen system was studied in the Arab population of the Gaza Strip. The lymphocytes of 113 individuals were typed for 13 and 16 antigens at loci A and B, respectively. The distribution of the HLA antigens was found to be similar to that of an average Caucasoid Middle Eastern population. This was more marked when the tested population was compared with Arab populations living in northern Israel or originating from Lebanon, suggesting that they probably all share a common gene pool. The only noteworthy variation in the Gaza population was the high frequency of BW21, previously found only in Eritreans and Turks.
Specimens of uninvolved skin of 20 patients with systemic lupus erythematosus (SLE) were studied using a direct immunofluorescent technique (IF) and the electron microscope (EM). EM examination revealed deposits of electron-dense material below the basal membrane, among collagen fibers in the dermis and in the walls of dermal blood vessels. The direct IF technique revealed granular "band" deposition of immunoglobulins and complement at the dermo-epidermal junction as well as granular deposition in the walls of blood vessels. There was close correlation between the IF and EM findings. It was concluded that the EM is of particular value in precisely delineating the location and ultrastructural pattern of skin deposits. The IF technique is not limited in relation to the size of area which can be studied and makes it possible to identify the specific immune fractions present. It is suggested that these two methods are mutually complementary in providing information concerning the deposition of immunoglobulins taking place in the uninvolved skin of SLE patients.
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A study was conducted to determine the pattern of cortisol metabolism by lymphocytes obtained from four groups of subjects: 27 male and female patients suffering from various types of malignancy other than malignancy of lymphatic tissues; and 26 healthy male and female controls. Known concentrations of cells were incubated with 1,2-3H-cortisol and the products were isolated by thin-layer and paper chromatography. Three metabolites were found to be produced by lymphocytes from both normal and cancer-bearing patients: 20alpha-hydroxycortisol, 20beta-hydroxycortisol, and tetrahydrocortisol. Cells from the female control group were found to be more active than those from the male controls, while cells from cancer-bearing patients were markedly more active than the normal cells, regardless of sex. It is suggested that this finding of increased metabolism of cortisol by lymphocytes from patients with different types of malignancy other than lymphoma may provide the basis for a new diagnostic aid.
Immunofluorescent antibodies against the intercellular material of the malpighian layer were detected in the sera of 22 of 24 patients suffering from pemphigus vulgaris. A clear-cut agreement between pretreatment antibody titers and the severity of the clinical manifestations was established only with the extreme values, i.e., patients without antibodies were among the mildest cases while the highest titers were found exclusively among the most severe cases. There was a considerable overlapping of all 3 states of the disease--mild, moderate and severe--in the range of the intermediate titers. On the individual level, 20 of the 24 patients showed a positive correlation between steroid-induced clinical improvement and a fall in the antibody titer. Conversely, in some cases, an exacerbation of the clinical state was associated with a rise in antibody titer. The results of this investigation indicate a positive correlation between the immunological findings and the clinical activity of the disease.
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The specific cell-mediated immunity of the lymphocytes of eight patients with choriodal malignant melanoma (MM) to four extracts of choroidal MM-associated antigens was tested with the aid of the MIF technique. Seven of the patients with choroidal MM responded to at least one of the four extracts used, whereas patients with choroidal nevus or carcinoma as well as healthy controls did not respond to any of the MM choroidal extracts. There was no response to iris extracts obtained from the enucleated eyes with MM in any of the subjects tested.
Benign familial leukopenia was found in 75 of 200 healthy Yemenite Jews examined. The leukopenia was not a constant finding and was not associated with a tendency toward infection. HLA typing showed no significant differences in the frequency of the various HLA antigens between the subjects with and without leukopenia. No similarity was found between the HLA of the Yemenite Jews with leukopenia and that reported in black Africans with benign familial leukopenia. The suggestion of a genetic contribution from African blacks to Yemenite Jews is not supported by these results. The question remains to be answered whether the familial leukopenia in Yemenite Jews and black Africans is the result of a mutation.
Specific cell mediated immunity to polio antigens was investigated in 22 children suffering from acute paralytic poliomyelitis by the macrophage migration inhibition (MIF) technique. A positive response was observed in 9 out of the 11 patients tested 1-14 days after the onset of the paralysis and in 6 out of the 8 patients tested between 15-90 days. In one case, the response was positive even before paralysis became evident. Out of the 8 patients tested 90-360 days after paralysis, only 3 gave positive results. No response whatsoever could, on the other hand, be observed in the great majority of children tested 1-3 months after having received oral polio vaccine or in healthy adults. These findings demonstrate that in poliomyelitis the specific C.M.I. response can be detected before the circulating antibodies and suggest that possibility of the use of this technique in the early diagnosis of poliomyelitis as well as in the differentiation between this disease and other neurological disorders.
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Renal biopsy specimens were obtained from nine patients with proteinuria and persistent macroscopic or microscopic hematuria. Histologic examination either disclosed no abnormality or showed moderate mesangial thickening and occasionally, evidence of focal segmental glomerulonephritis. Immunofluorescent studies revealed diffuse generalized mesangial deposits of IgA, IgG and betalc in all specimens. Fibrinogen deposits were present in the mesangial space in four specimens only, while IgM was uniformly absent. Serial sections of identical glomeruli allowed the localization of betalc within both IgA and IgG deposits. Ultrastructural studies of the renal biopsy specimens showed accumulation of electron-dense material in the subendothelial region of the capillary loops and the mesangium, with thickening of its matrix. Follow-up data indicated a generally good prognosis.
An unusual case of chronic myelogeous leukemia (CML) is reported which was characterized by leukocytosis without a shift to the left, elevated leukocyte alkaline phosphatase, positive indirect Coombs' test, anemia and thrombocytosis, as well as the absence of hepatosplenomegaly. The diagnosis of CML was ascertained by the presence of Philadelphia chromosome with translocation of its deleted arms on the short arms on the short arms of a chromosome No. 6. The possible relationship between the chromosomal aberration and the unusual hematological and clinical features of this case is discussed.