Painful neuropathy after diffuse herpes zoster.
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Biomedical subjects
Publications and source records attributed to C Romano.
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The association of large pituitary mass, lack of clinical syndromes of pituitary hypersecretion, hypopituitarism and visual field defects suggests the diagnosis of nonfunctioning pituitary adenoma, but the same characteristics can be present in patients affected by other tumorous lesions, cysts, inflammatory processes or vascular disease. The management of these patients depends on a correct diagnosis. A 53-year-old woman was admitted for nausea, vomiting and severe hypotension. For three months she had complained of weakness, sleepness, skin-dryness and loss of weight. Imaging and endocrine evaluations revealed an intra and extrasellar mass causing hypopituitarism without diabetes insipidus. Histological examination of the tissue obtained at transsphenoidal surgery showed a Rathke's cleft cyst, surrounded by areas of noncaseous granulomatous tissue with scattered multinucleated giant cells of foreign body type, similar to a sarcoid lesion. Other systemic sarcoidosis localizations were absent. After two years of full well-being, the patient reported a sudden visual impairment, due to sarcoidosis involvment of the prechiasmatic tract of the optic nerve, that promptly improved with corticosteroid treatment. This report emphasizes the overlap of signs and symptoms between non functioning tumors and nontumoral masses of hypothalamic-pituitary region and underlines the fact that a correct diagnosis is feasible only on histopathological basis. Although, occasionally, the coexistence of Rathke'cyst with pituitary adenoma has been reported, to the best of our knowledge, this is the first report of the association between Rathke's cleft cyst and noncaseating granuloma tissue. Finally, the remission of neurolgical symptoms following corticosteroid therapy confirms this treatment as a valid medical approach and suggests its use in a short therapeutic trial when the diagnosis is doubtful.
Cabergoline (Cab), a very potent and long-lasting dopaminergic compound, was administered to 26 women with pituitary microprolactinoma [mean serum PRL levels: 124.8 +/- 11.3 micrograms/l (+/- SE), range 62-300 micrograms/l] and 3 patients with GH-secreting pituitary adenoma (2 with associated PRL hypersecretion) for 12 and 24 months, respectively. In microprolactinomas, a stable normoprolactinemia was achieved in 96.1% of cases: in 13 women (50%) with the lowest dose of the drug (0.5 mg/week), and in other 12 patients (46.1%) with increasing doses up to 3 mg/week. All the oligomenorrheic/amenorrheic women, except one, restored regular and ovulatory menses. Two patients became pregnant. Pituitary abnormalities at high resolution-CT (HR-CT) scan disappeared in 13 of 19 patients (68.4%) after 12 months of therapy and this feature persisted in 8/13 cases (61.5%) 12 months after drug withdrawal. During Cab discontinuation (range: 3-60 months), mean serum PRL levels remained significantly lower than the basal ones. Six of 25 women are still without therapy. In 2 patients, normoprolactinemia persisted up to 38 and 60 months, respectively. Cab treatment was re-instituted in 13 patients because of the recurrence of hyperprolactinemia. Five patients were lost at follow up. In all the acromegalic patients, Cab (1-3 mg/week) normalized serum GH, IGF-I and PRL levels. A clear improvement in clinical symptoms was observed in all patients, but neuroradiological improvement in only one. Cab therapy was very well tolerated, as only seven patients complained of mild and transient side-effects and none had to stop treatment. In conclusion, Cab is an effective, safe, and well tolerated dopaminergic compound for the treatment of hyperprolactinemic disorders and the control of the clinical and hormonal features of dopamine-sensitive acromegalic patients.
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Two cases of cutaneous phaeohyphomycosis, one with a nodular appearance and the other with an erythematous infiltrating patch, are reported in immunocompromised patients. Diagnosis was based on histological examination, which revealed hyphae and round-shaped fungal cells in a granulomatous dermal infiltrate, and on identification of the moulds when biopsy fragments were cultured on Sabouraud-dextrose agar without cycloheximide. The pathogens were Alternaria tenuissima in the first case and A. alternata in the second. The fungi were examined by scanning electron microscopy. The patients were checked for bone and lung involvement and were then treated with surgical excision and itraconazole, and itraconazole only, respectively, with clinical and mycological resolution.
Earlier analysis of the Italian population showed patterns of genetic differentiation that were interpreted as being the result of population settlements going back to pre-Roman times. DNA disease mutations may be a powerful tool in further testing this hypothesis since the analysis of diseased individuals can detect variants too rare to be resolved in normal individuals. We present data on the relative frequencies of 60 cystic fibrosis (CF) mutations in Italy and the geographical distribution of the 12 most frequent CF mutations screened in 3492 CF chromosomes originating in 13 Italian regions. The 12 most frequent mutations characterize about 73% of the Italian CF chromosomes. The most common mutation, delta F508, has an average frequency of 51%, followed by N1303K and G542X, both with average frequencies around 5%. Multivariate analyses show that the relative frequencies of CF mutations are heterogeneous among Italian regions, and that this heterogeneity is weakly correlated with the geographical pattern of non-DNA 'classical' genetic markers. The northern regions are well differentiated from the central-southern regions and within the former group the western and eastern regions are remarkably distinct. Moreover, Sardinia shows the presence of mutation T338I, which seems absent in any other European CF chromosome. The north-western regions of Italy, characterized by the mutation 1717-1G-->A, were under Celtic influence, while the north-east regions, characterized by the mutations R1162X, 2183AA-->G and 711 + 5G-->A, were under the influence of the Venetic culture.
Metabotropic glutamate receptor (mGluR) agonists induce extensive phosphoinositide (PI) hydrolysis in astrocytes grown in a chemically defined medium with select growth factors. These astrocytes express mGluR5 transcripts, but none of the splice variants of mGluR1, thus permitting the characterization of mGluR5 in a native CNS cell without interference from mGluR1 activity. mGluR5 activation (1) was not associated with stimulation of cyclic AMP formation, (2) showed high sensitivity to the removal of extracellular versus intracellular Ca2+, (3) displayed high coupling efficiency relative to receptor density, and (4) induced PI hydrolysis that was suppressed by phorbol esters with low potency. The rank order of agonist potency was similar to that observed in mGluR1 and mGluR5 transfected cells. The phenylglycine antagonists tested were effective in blocking responses to 1-aminocyclopentane-1S,3R-dicarboxylic acid, but not to glutamate. Prolonged exposure to agonists induced a two-phase desensitization of mGluR5 function, an initial phase (completed by 1 h and plateaus for another 3 h) and a late phase (progressive decrease to approximately 30% of control levels by 24 h). Only the latter phase was associated with receptor down-regulation. Desensitization of mGluR5 function did not involve receptor internalization or phosphorylation mediated by protein kinase C or A; it was purely homologous, and reversible. Resensitization after short agonist treatment did not require prior receptor sequestration. Recovery after prolonged agonist exposure required new protein synthesis, but the restoration of function was more rapid than normalization of receptor protein levels, indicating that regulation also involves other components of the transduction system. The protracted desensitization of mGluR5 in astrocytes suggests that the functions mediated by this receptor are maintained under a variety of conditions ranging from repetitive stimulation to injury responses.
The authors describe a case of eosinophilia occurring in an atopic patient suffering from chronic active hepatitis C following a 2-week course with beta-interferon. Since the most common causes of eosinophilia were ruled out by laboratory and instrumental investigations, the authors suggest a possible role of beta-interferon in triggering eosinophilia, in light of current beliefs about the factors modulating eosinophil growth, differentiation and survival. In particular, it has been supposed that the inhibitory effect of beta-interferon on gamma-interferon production could have triggered a preferential expansion of Th2 type T-helper cells whose particular profile of cytokine secretion has been shown to play a crucial role in the development of eosinophilia. To the authors' knowledge, this is the first report of eosinophilia induced by beta-interferon therapy for chronic hepatitis C.
Most human cases of dermatophytosis diagnosed in Siena, Italy, in the last 5 years have been caused by two zoophilic species: Microsporum canis and Trichophyton mentagrophytes. Since many patients had a history of contact with apparently healthy stray cats, we examined the fur of 173 stray cats for dermatophytes. The cats were captured in different parts of Siena and none of them had mycotic lesions. Microsporum canis was isolated in 82 cats, Trichophyton mentagrophytes in three and Microsporum gypseum in one. Trichophyton terrestre was isolated in two cats. No significant differences were found in terms of sex and race, however, healthy carriers were significantly more frequent in the 1-year age group. The investigation showed that, in Siena, stray cats are a significant reservoir of Microsporum canis and source of infection for man.
Hypomelanosis of Ito can be defined as a syndrome providing a cutaneous epiphenomenon with a peculiar pattern of distribution, usually associated with disorders of the nervous system, skeleton and eyes. Four further patients are reported and the literature reviewed. The diagnostic criteria and the differences with other pigmentary diseases distributed along Blaschko's lines are highlighted. The main histopathological features are reported and the high frequency of the associated abnormalities are emphasized. The chromosomal findings and main genetic hypotheses are discussed. The suggested follow-up aims not only at the knowledge of the natural history of this condition, but also at its better delineation.
We report a newborn admitted to our service on the 2nd day of life because of hypotonia and metabolic acidosis. A progressive hepatocellular dysfunction dominated the clinical picture and the patient died at 13 months of age because of severe hepatic failure. Persistent lactic acidosis, high ketone bodies levels and high-normal lactate/pyruvate and 3-hydroxybutyrate/acetoacetate molar ratios in plasma were found. Investigation of a liver biopsy revealed low activities of all the mitochondrial respiratory chain enzymes but in particular a marked decrease of complex I (NADH cytochrome c reductase) activity. All respiratory chain enzyme activities were normal in cultured skin fibroblasts. Mitochondrial DNA analysis failed to detect any major rearrangements. Although only a few cases have been reported so far, it is becoming clear that liver should be considered as one of the organs involved in oxidative phosphorylation disorders. The finding of unexplained progressive liver failure with poor neurological conditions, lactic acidaemia and ketonuria strongly warrants investigation for a respiratory chain disorder. Moreover, the finding of normal respiratory enzyme activities in a tissue other than liver does not rule out the existence of an oxidative phosphorylation disorder in patients with hepatocellular disease of unexplained origin.
Tyrosinemia type III, caused by deficiency of 4-hydroxyphenylpyruvate dioxygenase, is a rare disorder of tyrosine catabolism. Primary 4-hydroxyphenylpyruvate dioxygenase deficiency has been described in only three patients. The biochemical phenotype shows hypertyrosinemia and elevated urinary excretion of 4-hydroxyphenyl derivatives. We report the clinical and biochemical findings and the results of long-term follow-up in a new patient with this disorder presenting with severe mental retardation and neurological abnormalities. The clinical phenotype is compared with those reported in the three previously described patients.
Follicular cell carcinoma (FCC) of the thyroid is rarely found during childhood. We report a 12 1/2-year-old girl with acute lymphoblastic leukemia, who developed rapidly growing FCC of the thyroid, 3 years after bone marrow transplantation. The role of chemotherapy in the induction of such secondary tumors after transplantation is discussed, and a proposal for the approach to these patients is suggested.
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In 1989 HCV was demonstrated to be the leading cause of non-A, non-B hepatitis. Not only HCV is able to determine chronic hepatitis in most patients, often leading to hepatocellular carcinoma, but it has also been shown to be strictly associated with a number of immunologically-mediated diseases. This review focuses on the reported associations between HCV and other diseases and the role that HCV might play in their pathogenesis.
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AIM: To assess whether serum levels of sICAM-1 can be correlated with clinical parameters associated with liver inflammation in chronic hepatitis C patients before and after IFN-alpha treatment and whether in patients who respond to this treatment sICAM-1 levels correlate with relapse or sustained response. METHODS: 34 patients diagnosed with chronic active hepatitis C were administered IFN-alpha at a dose of 9 mU per week for 12 months. In all patients sICAM-1 levels were measured by ELISA before treatment and after 6 and 12 months of therapy. In addition, sICAM-1 levels were measured in all patients who responded to IFN-alpha at 6-month intervals after stopping treatment, for a total 2-year follow-up. RESULTS: In all patients, a significant correlation between sICAM-1 levels and the degree of hepatic involvement at biopsy was observed before starting the treatment. sICAM-1 levels remained elevated throughout the study in all patients who did not respond to IFN-alpha therapy, whereas they showed a significant decrease in all patients exhibiting normal ALT levels following IFN-alpha administration. Moreover, a slow but steady decrease in sICAM-1 serum concentrations to values overlapping those of control subjects was observed in sustained responders after a 2-year follow-up; in contrast, all the patients who relapsed showed a further increase in sICAM-1 levels. CONCLUSIONS: These observations suggest that measurement of sICAM-1 serum levels in chronic hepatitis C patients may be useful for monitoring liver inflammation, especially considering that ALT values may only reflect hepatocellular necrosis while invasive procedures, such as follow-up-liver biopsies, are often not well accepted by patients. Further studies will be necessary to assess whether sICAM-1 levels may be used in helping decide the optimal dose and duration of IFN-alpha treatment.