Vitiligo and autoimmune polyendocrine deficiencies with autoantibodies to melanin-producing cells.
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Biomedical subjects
Publications and source records attributed to C Betterle.
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We have studied the site of fibrinogen localization in normal platelets and in the platelets of a patient with congenital afibrinogenemia (CA). The methods employed were: direct immunofluorescence technique (DIT) and indirect immunofluorescence technique (IIT). By means of the DIT normal platelets were shown to have a clear peripheral staining. Such staining disappeared after treatment with proteolytic enzymes and after specific blocking experiments. Such peripheral staining of platelets was absent in congenital afibrinogenemia even after fibrinogen infusion. By means of the IIT platelets were shown to have a considerable amount of fibrinogen. Such protein was demonstrated to represent an important part of platelet surface, since intact platelets were able to absorb completely a specific antifibrinogen antiserum.
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Immunological and immunofluorescent studies carried out on plasma and platelets of three cases of congenital factor XIII deficiency are reported. Two of these patients were originally thought to have normal factor XIII subunit S and no subunit A. However, repeated assays carried out using different lots of antiserum showed that in reality the patients lacked both subunit S and subunit A. The false positive finding was due to the presence of a anti-factor VIII contaminant in the antiserum originally used. The third patient had a normal subunit S and no subunit A. No factor XIII antigen was found by the indirect immunofluorescent technique in normal, factor XIII deficiency and von Willebrand's disease platelets. On the contrary, by using the non-monospecific antiserum a fluorescent pattern similar to that observed by using an anti-factor VIII antiserum, had been noted. On the basis of the data presented in this paper a tentative classification of factor XIII deficiency in two groups is proposed: Type I is characterized by the lack of both factor XIII subunit S and A. Type II is characterized by a normal subunit S and no subunit A. The need for a re-evaluation of published case of factor XIII deficiency by means of monospecific antisera is indicated.
Rabbit raised anti-alpha-1-antitrypsin or anti alpha-2-macroglobulin antisera at dilution of less than 1:80 yielded non-specific staining on human platelets by indirect immunofluorescent technique. A similar pattern was in fact obtained by using normal rabbit sera at the same dilution and was due to the presence of smooth muscle autoantibodies. This indicates that human platelets do not contain significant quantities of these antigens. In agreement with the above, only microamounts of alpha-1-antitrypsin and alpha-2-macroglobulin were found to be present in human platelets by means of the electroimmunoassay.
Thirty-nine patients (14 non-diabetics, 8 chemical diabetics, and 17 overt diabetics) with circulating islet cell antibodies (ICA) were studied. Insulin and glucagon secretion after oral (100 g) and intravenous glucose loading (200 mg/kg bolus injection followed by an infusion of 20 mg/min over 60 min) and arginine infusion (25 g over 30 minutes) were evaluated in these patients and in non diabetic and diabetic ICA-negative controls. In the non-diabetic groups with or without ICA, insulin and glucagon responses to glucose were similar. Moreover, in ICA positive patients the response of these hormones to arginine infusion was reduced. Similar alterations in insulin and glucagon secretion were observed in the CIA positive and negative patients with chemical or overt diabetes. In particular, fasting hyperglucagonaemia and glucagon hyperresponse to arginine are associated with a lack of insulin secretion in the patients with overt diabetes. Hormonal differences between diabetics with and without ICA could not be detected.
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Factor I (fibrinogen) and factor VIII were shown, by an indirect immunofluorescence technique, to be present in human washed platelets. In the case of fibrinogen, the immunofluorescent pattern had a 'clod distribution' up to a 1:128 dilution of the antiserum. Factor VIII showed a 'speckled' pattern up to the 1:64 dilution. Cross-absorption studies confirmed the presence of such factors. Factor II, VII, IX, X and XIII, however, were not found in washed platelets. A diffuse fluorescence was noted using normal rabbit sera, but this was due to a cross-reaction, since it disappeared using a 1:32 diluted sera.
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27 normal rabbit sera were tested by indirect immunofluorescent technique. All sera stained smooth and skeletal muscle of human and mammalian tissues and human washed platelets. Two sera had ANA activity. These autoantibodies had low titres. Lysed but not intact platelets neutralized the rabbit SMA sera activity.
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Reticulin antibodies were detected by the indirect immunofluorescence technique in 1450 sera from miscellaneous patients. R1 pattern on human and rat tissues was found only in 2 cases with adult coeliac disease. Reticulin Rs staining, involving intrasinusoidal cells of rat liver as well as interstitial and endothelial structures of various rat tissues, was demonstrated in 3.7% of cases, without correlation with gastro-intestinal or skin disorders. Rs pattern, due to IgG antibodies, could be absorbed by rat erythrocytes. Only Rs positive sera showed high titres of anti-rat IgG-type hemoagglutinins. Rat RBC agglutinating activity was demonstrated by a modified indirect Coomb's test. Heterologous Rs antibodies appear unrelated to particular diseases and should not be mistaken for the R1 and R2 patterns, which may be useful for diagnostic procedures.
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We describe the case of a baby born to a mother with Addison's disease in the context of Autoimmune Polyendocrine Syndrome Type 2. Adrenal cortex autoantibodies and steroid 21-hydroxylase autoantibodies were detectable in the sera of both mother and baby, suggesting the transplacental passage of these autoantibodies. Adrenal autoantibodies were present in the baby's serum at delivery, at 3, 6 and till 34 months of age but no signs of clinical or subclinical adrenal insufficiency were found in the baby during the observation period. These data suggest that the presence of adrenal autoantibodies in serum alone is not a sufficient cause for the development of autoimmune adrenalitis.
We studied 25 patients with spermatic cord torsion occurring after puberty. The elapsed time between the onset of symptoms and observation varied from 6 months to 7 years. We evaluated the semen of these patients and found that the number of spermatozoa was lower in patients with an atrophic testis (13 patients) than in those with a normal testis or, in those with torsion treated by orchidectomy. Moreover, the number of spermatozoa was lower in patients who had torsion for more than 2 years before being checked (12 patients) than in patients who had a more recent torsion (13 patients). Agglutinating antibodies were present in 20% of the patients but, they are not correlated fertility or sterility. Immunofluorescent antibodies also were not correlated with the changes found by semen analysis. They are not present in patients with a normal testis at the time of observation. On the other hand, immobilizing antibodies were significantly correlated with sterility and, particularly with changes of motility. These data suggest that sterility after spermatic cord torsion is correlated with an autoimmune mechanism. It may occur particularly in those patients with atrophic testes and has a slow onset taking more than 2 years to evolve completely.
We determined the calcitonin (CT) levels in peripheral plasma and in seminal fluid of 15 normal human subjects: the concentration of the hormone in seminal fluid was about 30 times higher than the concentration found in peripheral plasma. We also studied the localization of calcitonin on human spermatozoa by means of an indirect immunofluorescent technique, using an anti-human CT rabbit serum and a fluorescein-isothiocyanate conjugated goat anti-rabbit immunoglobulins serum. A bright fluorescence was observed at the middle piece and neck, while the tail's principal piece was weakly stained. With an anti-human CT rabbit serum pre-absorbed with human CT no fluorescent staining was detectable. These findings demonstrate that calcitonin is localized onto spermatozoa and suggest a potential role for calcitonin in the calcium dependent-mechanisms of spermatozoa.