Search

The crested porcupine ( Hystrix cristata ) is present in central Italy with an estimated population of 1800 individuals. Despite the local abundance, little data are available on the diseases affecting free-ranging individuals. We describe a case of an epidermoid cyst (EC) in a male adult porcupine found in the municipality of Sovicille, province of Siena (Tuscany). At necropsy, a firm rounded nodule was noted on the left ventricle wall. Histological examination revealed a cystic formation lined by stratified squamous epithelium. The cyst was filled with lamellar keratin, while hair shafts were not present. The adjacent epicardium was infiltrated by lymphoplasmacytic cells in reaction to the rupture of the cyst with the spilling of keratinaceous debris. The lesion was diagnosed as a ruptured epicardial epidermoid cyst. EC are most commonly found in the skin, both in human and animal patients, though infrequently, they can occur in any internal organ. Cardiac EC has not been reported in domestic animals, and this is the first report of EC in a wild animal species. Clinical veterinarians should consider the possibility of similar cardiac lesions in captive subjects since the long lifespan of these rodents could allow the growth of the cyst with the compression of the adjacent tissues.

Laboratory experiments and animal evidences support the fact that thyroid function can be altered by a large number of chemicals routinely found in the environment and in samples of human and wildlife tissues. Although humans are commonly exposed to low pollutant doses, disrupting effects on endocrine function (e.g. thyroid) from such chemical exposures represent major health concerns. Thyroid is essential for mammalian brain development both before and after birth, and recent clinical evidences strongly suggest that brain development is much more sensitive to thyroid hormone excess or deficit than previously believed. Thyroid hormone deficit or excess during development can have permanent, pervasive and profound effects on the neurological function of the child. In addiction, maternal thyroid hormones play a role in fetal brain development before the onset of fetal thyroid function, and thyroid hormone deficit in pregnant women can produce irreversible neurological effects in their offspring. Considering that thyroid hormones are important in fetal brain development and child neurological outcome, environmental factors affecting maternal/fetal/infant thyroid function, or thyroid hormone action directly, may affect fetal brain development and child neurological outcome. The aim of this paper is to discuss how environmental chemicals can interfere with the normal production, metabolism, and excretion of thyroid hormones, and their known impact on the thyroid system during child development.

G(M1)-gangliosidosis is a lysosomal storage disorder caused by acid beta-galactosidase deficiency. Aside from the lysosomal beta-galactosidase enzyme, the beta-galactosidase gene also encodes the elastin-binding protein (EBP), deficiency in which impairs elastogenesis. Using expression studies and Western blots of COS-1 cells, we identified and characterized four new and two known beta-galactosidase gene mutations detected in G(M1)-gangliosidosis patients with infantile, juvenile, or adult forms of disease. We then focused on impaired elastogenesis detected in fibroblasts from patients with infantile and juvenile disease. The juvenile patient showed connective-tissue abnormalities, unusual urinary keratan sulfate excretion, and an EBP reduction, despite mutations affecting only beta-galactosidase. Because galactosugar-bearing moieties may alter EBP function and impair elastogenesis, we assessed infantile and juvenile patients for the source of altered elastogenesis. We confirmed that the infantile patient's impaired elastogenesis arose from a primary EBP defect, according to molecular analysis. We examined the juvenile's fibroblasts by immunohistochemistry, addition of keratanase, soluble/insoluble elastin assay, and radiolabeling of tropoelastin. These experiments revealed that the juvenile's impaired elastogenesis likely arose from secondary EBP deficiency caused by keratan sulfate accumulation. Thus, impaired elastogenesis in G(M1)-gangliosidosis can arise from primary or secondary EBP defects in fibroblasts from infantile and juvenile patients, respectively.

Objective: To examine the effect of long-term administration of GnRH agonists (GnRHa) on PRL secretion in children affected by central precocious puberty (CPP) and growth hormone deficiency (GHD)., Design: Prospective analysis of blood sampling before, during, and after GnRHa treatments., Setting: Pediatric endocrine center., Patient(s): One hundred nineteen and 93 children with a diagnosis of CPP and GHD, respectively., Intervention(s): Monthly depot injections of GnRHa drugs (leuprorelin acetate 3.75 mg [LA] and triptorelin 3.75 mg [TR]) administered to CPP and GHD patients for 40 and 24 months, respectively., Main Outcome Measure(s): Serum PRL levels at baseline and after 6, 12, 18, 24, 30, 36, and 40 months of treatment with GnRHa were compared between CPP and GHD groups. PRL levels at 6 and 12 months after GnRHa withdrawal were also examined., Result(s): Although serum PRL levels tended to be higher in TR- than in LA-treated patients, no significant difference in circulating PRL in basal condition and during GnRHa treatment was detected between the CPP and GHD groups. However, five children (3.8%) developed hyperprolactinemia during TR treatment., Conclusion(s): Although there are no general concerns about GnRHa treatment safety, careful PRL monitoring is required in GnRHa-treated children.

Objective: Using single photon emission computed tomography (SPECT) we evaluated the presence and evolution of changes in brain perfusion in juvenile systemic lupus erythematosus (JSLE)., Methods: SPECT was performed in 14 patients with active JSLE divided in 2 groups: the first included 7 patients without central nervous system (CNS) involvement and the second 7 patients with minor neuropsychiatric symptoms (headache, reactive depression, cognitive impairment, mood swing). SPECT findings were compared to seroimmunological and magnetic resonance imaging (MRI) data. After 6 month followup, a second SPECT scan was performed in 12 of 14 patients., Results: At baseline, SPECT showed perfusion defects in 2 patients without neuropsychiatric symptoms and in 5 patients with CNS involvement. In one of the 7 patients with altered SPECT, MRI showed focal hyperintensities. MRI alterations were observed in another patient who had a normal SPECT scan. Cortical atrophy was present in 5 of 14 patients. Correlation between neuropsychiatric manifestations and SPECT findings was not clearly evident because the major part of JSLE patients with CNS involvement and with SPECT alterations had multiple symptoms, but showed focal hypoperfusion on SPECT imaging. No significant association was found between seroimmunological data and SPECT findings. At followup, improvement of perfusion alterations was observed in 6 of 7 patients with altered SPECT and, in 3 of them, findings might be attributed to changes in steroid treatment., Conclusion: Perfusion abnormalities in SLE may represent reversible lesions or subclinical CNS involvement. Moreover, SPECT imaging appears to be useful in detecting and monitoring CNS involvement in SLE.

Twenty-two SLE patients were examined with Magnetic Resonance Imaging (MRI) and Single Photon Emission Computed Tomography (SPECT). Multifocal areas of cerebral blood flow (CBF) defects were found in 81.8% of the patients. These alterations were present in patients with severe neurological disorders, in those with neuropsychiatric symptoms only, and also in asymptomatic cases. Anticardiolipin antibodies (aCL) were detected in all patients, but no correlation was found between serum aCL positivity and neurological involvement. The high incidence of cerebral blood flow disorders found in asymptomatic patients, and their poor correlation with the MRI alterations suggest a primary defect of CBF in these patients.

Since interleukin 1 (IL-1) and erythropoietin (Epo) are believed to play a role in the pathogenesis of rheumatoid arthritis (RA) anaemia we measured IL-1 alpha and Epo concentrations in 10 RA patients with chronic disease anaemia (CDA) and in 14 RA patients without anaemia. Anaemic RA patients had significantly higher IL-1 alpha concentrations than patients without anaemia. IL-1 alpha correlated negatively with haemoglobin and correlated positively with ESR. The results of a multivariate analysis showed that the best predictors of the presence and absence of anaemia were IL-1 alpha and ESR. No clinical parameters permitted a distinction between these two groups of patients. Epo levels were not different in anaemic and non-anaemic RA patients. No correlation was found between Hb and Epo, indicating the presence of an impaired Epo response in RA patients with CDA. We completed our study with the determination of the mean red cell lifespan and with the quantification of IgG and IgM bound to the surfaces of red blood cells (RBC-IgG and RBC-IgM) using a sensitive ELISA method. We observed a modest reduction in red cell survival in anaemic RA patients compared to normal controls. We did not find any correlation between Hb and red cell lifespan and between Hb and RBC-IgG. RBC-IgG and RBC-IgM were not found to be more elevated in anaemic RA than in non-anaemic patients.

In 47 patients who had undergone splenectomy (31 post-trauma and 16 elective), the percentage levels of T and B lymphocytes, and the T lymphocyte subsets and circulating immune complexes were studied in peripheral blood and correlated with residual splenic function evaluated by means of the pitted red cell count. The T and B lymphocyte levels in splenectomized patients did not differ significantly from those in controls, while OKT8+ lymphocyte levels were significantly higher both after post-trauma and elective splenectomy; there was no significant difference between the two groups of splenectomized patients. Circulating immune complexes were significantly higher both after post-trauma and elective splenectomy only with the C1qBA and C1qSP methods, while there were no differences between splenectomized patients and controls with the KgBSP method. None of the three methods showed significant differences between post-trauma and electively splenectomized individuals. The pitted red cell levels were significantly lower in post-trauma splenectomized patients with respect to electively splenectomized individuals and 22% of post-trauma splenectomized patients had pitted red cell values within the range compatible with the presence of splenosis. The immunological alterations detected did not correlate with the pitted red cell levels, nor were they less evident after post-trauma splenectomy or in patients with pitted red cells compatible with splenosis: this suggests that the occurrence of splenosis is not sufficient to prevent these alterations. Finally, since in our study the average distance from the operation was 5 yr, it is likely that these alterations can be considered as being stable.

We recently described a solid phase immunoradiometric assay (IRMA) for anti-thyroglobulin and anti-thyroid microsomal antibodies. In the present study a similar IRMA for gastric parietal cell antibodies (PCA) has been developed. Samples to be tested are incubated within wells of polyvinyl microtitre plates coated with solubilized gastric microsomal antigen. After removal of unbound material, PCA is detected by adding purified 125I-anti-human IgG antibody. A good correlation was found with the results of PCA assays obtained by indirect immunofluorescence. In contrast, negative PCA by IRMA were consistently obtained in sera containing high titres of several other organ specific and non-organ specific autoantibodies. PCA determinations by IRMA were than carried out in a series of normal controls and patients with autoimmune or non-autoimmune thyroid disorders. Positive results were obtained in three of 70 (4.3%) apparently normal subjects, in 16 of 87 (18.4%) patients with Hashimoto's thyroiditis, in 10 of 48 (20.8%) with idiopathic myxoedema, in 25 of 95 (25.6%) with Graves' disease and in five of 64 (7.8%) with other non-autoimmune thyroid disorders. Preliminary results showed that quantitative measurements of PCA by IRMA could be performed using a serum containing high levels of PCA as standard reference. In conclusion, PCA may be easily and specifically detected using the same IRMA procedure previously developed for anti-thyroid antibodies. We therefore suggest that the present IRMA may be proposed as a general technique for the detection of different organ specific autoantibodies.

The relationship between leukopenia and the complement system during hemodialysis was re-examined by studying not only the in vivo effects of four different dialyzer membranes (cellulose hydrate, cuprophan, cellulose acetate, and polyacrilonitrile) on leukocyte counts and complement levels, but especially by investigating the effects of these membranes on complement function in vitro. Whereas from in vivo studies no definite conclusions could be drawn, in vitro investigations provided clear-cut information. When more sophisticated technical approaches were undertaken, it became evident that hemodialysis leukopenia has to be thought of in terms of chemotactic factor generation. In fact, a strict correlation was demonstrated between the degree of leukopenia induced by the dialyzers tested and the ability of the relative membrane to generate chemotactic activity in vitro. Moreover, the previously observed ability of polyacrilonitrile membrane to induce a decrement in complement function was due to the ability of polyacrilonitrile to adsorb complement activity and did not correspond to effective complement consumption. This finding explained why polyacrilonitrile dialysis is not accompanied by a decrease in circulating granulocytes. Taken together, our data strongly point to a pivotal role of complement system in the pathogenesis of hemodialysis leukopenia.

Sera obtained from 302 patients with acute viral hepatitis were studied for the presence of organ and non organ specific autoantibodies and of circulating immune complexes (CIC). Autoantibodies were determined by indirect immunofluorescence techniques and CICs were detected by 125 J - C1q assay (C1qBA according to Zubler et al., 1976). A high prevalence of anti smooth muscle autoantibodies (SMA) was found in the sera of the patients. In particular, SMA were found in the sera from 44/73 (60.2%), 92/182 (50.55%) and 10/47 (21.3%) of A, B and nonA nonB hepatitis, respectively. The highest prevalence of SMA was observed within 10 days after the clinical onset of the disease in hepatitis A patients and within 10-15 days in nonA nonB hepatitis. The prevalence of SMA in hepatitis B is persistently high during the first two weeks of illness, then decreases and, about the 3rd week, increases again. CIC were detected in 156 sera from 302 patients (51.65%) affected by acute viral hepatitis. The prevalence of CIC was significantly higher in hepatitis A (78.08%) than in B and nonA nonB hepatitis (45.6% and 34.03% respectively). CIC were demonstrated in almost all the sera of hepatitis A patients admitted between the 6th and the 15th day after the onset of the disease. A strict connection was observed between SMA and CIC and, although to a lesser extent, between CIC and markers of A and B viruses. No significant connection between CIC and serum aminotransferase or bilirubin levels was noted. CIC screening was performed weekly for 1 month after admission in 225 patients with acute viral hepatitis. According to our data, the clearance of immune complexes from serum seems to occur more quickly in B and nonA nonB hepatitis than in virus A hepatitis.

Autoantibodies reacting with nuclear antigen(s) on human cells (HNA) with weak or without reactivity on nuclei of other species have been found by the indirect immunofluorescence technique used in routine tests for the diagnosis of autoimmune diseases. Precipitin lines were obtained by counterimmunoelectrophoresis (CIE) only when human lymphocyte extracts were used and not with rabbit thymus acetone powder. By comparison with reference sera, the autoantibodies directed to HNA were found to be different from SSA/Ro antibodies and did not give the fluorescence pattern of anti nuclear mitotic apparatus (NuMA) antibodies on HEp-2 cells. The prevalence of sera with anti-HNA antibodies not associated with other antinuclear antibodies (ANA) is low (about 0.7% of ANA found in routine assay). In association with ANA of other specificities, the prevalence of anti-HNA antibodies, demonstrated after absorption of sera with rat liver acetone powder, was higher (about 1% of ANA positive sera). By treatment with physicochemical agents and enzymes, the HNA was found to be a DNA (glyco)-protein complex extractable with saline solution, resistant to 56 degrees C for 6 h and stable at pH values ranging from 3 to 10. Anti-HNA antibodies were found in patients with mild connective tissue diseases, but also in idiopathic interstitial pneumonia and in chronic hepatitis.

One patient affected by systemic lupus erythematosus with recurrent phlebothrombosis and peripheral neuropathy is described. False positive VDRL test, anticardiolipin antibodies, and high titres of antinuclear antibodies were present. Circulating immune complexes were not found. The effect of plasma exchange on clinical symptoms and on serological abnormalities was rapid and striking.

The sera of 401 patients admitted to the Department of Infectious Diseases [U.S.L. (Unità Sanitaria Locale) 10 D] in Florence in one year were screened for the presence of markers of hepatitis A and B viruses. On the basis of clinical and serological data, the diagnosis of viral hepatitis was confirmed for 302 patients. Among the se, 73 (24.18%) were affected by hepatitis A, 182 (60.26%) by hepatitis B and 47 (15.56%) by nonA nonB hepatitis. The prevalence of B nonA nonB hepatitis in 133 drug addicts was 69.37% and 25.51% respectively. A previous infection with hepatitis A virus, as demonstrated by the presence of anti A antibodies of the IgG idiotype in the sera, was demonstrated in 201 of 328 patients (62.03%) not affected by hepatitis A. Only 14% of them reported data related to a possible former acute hepatitis. Markers of B virus were found in 62 of 167 sera of patients (37.12%) not affected by acute B hepatitis or chronic HBsAg positive hepatitis. However the prevalence of virus B markers increases up to 50% in the sera of drug addicts. According to our data the spreading of virus hepatitis in the area of Florence is similar to that observed in other Regions of Central and Northern Italy with fairly good social and hygienic conditions. High prevalence of nonA nonB hepatitis and of HBsAg carriers among the drug addicts are noteworthy.