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Biomedical subjects

M Savi

Publications and source records attributed to M Savi.

At least 37 records · Page 2Linked to original sources
PubMed1980

[Fabry's disease and familial lymphedema. Description of 2 cases].

Two cases of Fabry's disease (FD) with lymphedema of the lower limbs are reported. On the basis of lymphographic investigations showing lymphatic aplasia, the hypothesis of an inborn error in the development of the lymphatic system of the lower limbs--Familial Lymphedema--controlled by a gene associated with FD gene on the same chromosome, is suggested.

Adult↗
PubMed1980

[Frequency and gametic association of HLA antigens in a population living in Parma (author's transl)].

The HLA antigens are currently investigated in many diseases and are very useful in medico-legal tests for exclusion of paternity. However, because of the high polymorphism of the HLA system, for a correct interpretation of the results, it is essential to know the HLA antigens distribution in normal populations used as control. Up to now there are few studies about the HLA system in different regions of Italy and for this reason the Authors have studied the phenotypic, genic frequency and the gametic association of HLA A and B antigens in a population living in the province of Parma. The results confirm an HLA homogeneity of populations living it the western territories of the Emilia Region.

Genetics, Population↗
PubMed1979

Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.

The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.

Cerebroside-Sulfatase↗
PubMed1978

[Genetic markers in insulin-dependent juvenile diabetes].

A significant association has been established between insulin-dependent diabetes and HL-A. This was appraised in a selected series of 16 patients and 64 of their first-degree relatives by HL-A typing. The relatives also underwent a glucose tolerance test. The results showed a high incidence of B8 in the patients (31%, VS 15% in controls: p less than 0.01). A previously observed prevalence of Bw 15, however, was not noted. In addition, an increased incidence of Bw 35 was detected (38%, VS 23% in the controls: p less than 0.02). In the case of the relatives, no significant differences in HL-A frequency were apparent, nor could a relationship between HL-A phenotype and altered glucose tolerance be established. The true aetiopathogenetic significance of this association is discussed in the light of recent views concerning HL-A and diseases.

Chromosome Mapping↗
PubMed1978

[Familial Mediterranean fever. Evidence of its autoimmune pathogenesis].

Immunological disturbances in FMF have not been previously reported. In present case, positivity for RA and Waaler-Rose test as well as increase of plasma IgG and IgM immunoglobulins during an episode of acute peritonitis is described. These findings, in association with very high levels of urinary FDP, suggest an autoimmune pathogenesis of the disease.

Acute Kidney Injury↗
PubMed1978

Appearance and evolution of anti-Da (B cell-specific) antibodies after planned immunizations.

Appearance and evolution of anti-Da antibodies has been followed in eight volunteers immunized by whole blood transfusions or leukocyte intradermal injections form a single donor incompatible for HLA--A,--B,--C and--D specificities. Several unabsorbed bleedings from each recipient were studied against the specific immunizer with three different complement-dependent lymphocytotoxicity (CdL) techniques: (1) standard NIH CdL on total peripheral blood lymphocytes (PBL); (2) VII Workshop standard CdL technique on B cell-enriched suspensions; (3) beta2 microglobulin blanketing test ("bb" test) on B cells. Results obtained with the "bb" test were confirmed with platelet-absorbed sera. The "bb" and the absorbed sera allow discrimination between anti-Da and anti-HLA--A,--B,--C antibodies. Stage of appearance and evolution are rather similar for an anti-HLA--A,--B,--C and anti-Da. An early appearance of antibodies positive only against B cells is due to weak anti-HLA--A,--B antibodies which react better with B cells than with total PBL. Immunogenicity of Da antigens seems to be of the same order as HLA--A, and--B. In fact, Da reactivity was present in all eight recipients studied. These reactivities always segregated in familes with these HLA haplotypes. On a small panel of unrelated D-typed donors, three sera showed a significant positive association with D alleles.

Antibody Specificity↗
PubMed1978

Unusual immunologic findings in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an inherited disease of unknown etiology. We report a case in which, during an acute febrile attack, rheumatoid factor and immunoglobulin levels rose, and the levels of complement components fell. The level of urinary fibrinogen degradation products also increased, and all results of tests returned to normal at the end of the acute attack. This suggests that an immunologic phenomenon may play a substantial role in the etiology of FMF.

Adult↗
PubMed1977

Clinical, histopathological, and biochemical findings in Fabry's disease. A case report and family study.

An extensive enzymatic and morphological study was performed in a 38-year-old patient with Fabry's disease (FD). The quantitative evaluation of the enzyme alpha-galactosidase was shown to be important in identifying the genetic distribution of FD in the family tree of the patient under study. An enzymatic activity less than 0.5 nanomole/hr/10(6) cells and ranging from 2.2 to 1.1 nanomoles/hr/10(6) cells was found in the affected males and the heterozygous females, respectively. alpha-galactosidase activity in the patient's leukocytes correlates well with the histopathological findings of the kidney and skin biopsy specimens, thus demonstrating the need for both of these special examinations for a correct diagnosis of FD.

Adult↗
PubMed1977

HLA antigens and insulin dependent diabetes mellitus. A family study.

Sixteen insulin dependent diabetic patients (age at onset less than 35 years) and their families were tissue typed for HLA antigens. Glucose tolerance of relatives was also tested. Among diabetic patients two HLA antigens were found with increased frequency: B8 (31 percent, control 15 percent) and Bw35 (38 percent, control 23 percent). Among normal relatives B8 and Bw35 had the same frequency as the control group. Bw15 frequency was not increased in either group. In relatives, no correlation between HLA antigens (B8 or Bw35) and abnormal glucose tolerance, obesity and over-weight at birth was found. Present data confirm previous reports of high B8 frequency in early onset diabetic patients, but fail to demonstrate a raised frequency of abnormal glucose tolerance among relatives bearing B8 (or, in our cases, Bw35). B8 may be considered a genetic indicator for susceptibility to juvenile diabetes. On the basis of present results in families, however non genetic factors clearly also play a determinant role. Furthermore, that diabetogenesis arises from a link between Ir-genes and HLA-B8 antigen should only be considered a suggestive hypothesis.

Adult↗