[Diffuse intestinal lipomatosis associated with pancreatic and adrenal lipomas. Diagnosis with computerized tomography: the first case?].
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Biomedical subjects
Publications and source records attributed to G Rossi.
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BACKGROUND: In this article, the interrelations between biological and emotional factors in learning disabilities in Turner's syndrome are studied. METHODS: This is a transversal study with a 18 months neuropsychiatric follow-up. Five girls with the syndrome, aged between 12 and 22 years have been studied using Wechsler scales (WISC-R and WAIS), individual interviews and psychodiagnostic tests, to describe both their cognitive profile and psychological traits. RESULTS: The intelligence tests show selective impairments in visuo-spatial area, with lower score on performance IQ, especially in the sub-tests "Block Design" and "Object Assembly"; individual interviews and psychodiagnostic tests show signs of psychological disease, often consequences of this syndrome, and only in one girl with an associated diagnosis of psychosis. CONCLUSIONS: Psychological and environmental factors, as well as the genetics, may play an important role in the impairment of cognitive abilities, and the neuropsychological aspects may not be related only with the organic substrate.
OBJECTIVE: To evaluate prolactin (PRL) serum levels in prepubertal girls affected with 2 different subtypes of pauciarticular onset juvenile chronic arthritis (JCA) and with previous acute postinfectious arthritis in remission (AA), and to correlate the relationship of PRL versus interleukin 6 (IL-6) serum levels. METHODS: Eleven girls with antinuclear antibody (ANA) positive early onset pauciarticular JCA, 8 with ANA negative late onset pauciarticular JCA of various forms (considered to have spondyloarthropathy, SpA), and 7 who had had AA were evaluated for serum concentrations of PRL, IL-6, and thyroid hormones and presence of uveitis. All were prepubertal and without clinical or biological signs of disease activity. RESULTS: Mean serum concentrations of PRL were significantly increased in ANA positive (8.9 +/- 4.0 ng/ml) patients and in patients with SpA (7.8 +/- 2.4 ng/ml) compared to those of AA patients (4.4 +/- 0.3 ng/ml) (p = 0.01 and p = 0.025, respectively) and to controls. Both ANA positive and SpA patients showed increased mean serum concentrations of IL-6 in comparison with AA patients and controls. Significant correlation between PRL and IL-6 concentrations (r = 0.604, p = 0.002) was observed from the whole series. CONCLUSION: We found a direct correlation between serum levels of PRL and IL-6 in both ANA positive JCA patients and in ANA negative SpA patients; thus, hyperprolactinemia correlates better with the chronic course of the disease than with ANA positivity.
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The authors examine cases of attempted suicide admitted to Hospital of Foggia from 1 January 1990 to 31 December 1996. They describe characteristics of repeaters. A total of 611 episodes of attempted suicide regarding 552 different subjects were observed during the study period. Women attempted suicide more than men. No significant difference was observed for age and repeaters between men and women; while women outnumbered men in cases of single episode. Attempted suicide showed a circadian rhythm for both in first-event cases and repeaters; against, circaseptan and circannual periodicity were not present in both groups. Women had a greatest risk of an other repetition after a free period from events, in fact the time between the first and the latest episode was greater for women than for men. Commonly, the repeaters attempted at suicide again making use of the same method used for the first episode.
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BACKGROUND AND OBJECTIVE: The use of hematopoietic growth factors in association with chemotherapy in human immunodeficiency virus (HIV)-related non-Hodgkin's lymphoma (NHL) has been recommended, but few studies have evaluated its cost-effectiveness. DESIGN AND METHODS: The effects of recombinant granulocyte colony-stimulating factor (G-CSF) were analyzed in 33 consecutive patients with HIV-related NHL treated at a single institution with the same chemotherapy program, ProMACE-CytaBOM, with G-CSF, in 21 cases diagnosed after December 31, 1991, or without G-CSF, in 12 cases diagnosed earlier. Pearson's chi-square analysis and the two-sided Student's t-test were used for statistical comparisons. The method of Kaplan-Meyer and the log-rank-test were used for survival analyses. RESULTS: G-CSF support significantly reduced the frequency of day-1 drug dose reductions (p < 0.001) and of chemotherapy delays (p < 0.001), and improved the actual delivered doses of adriamycin, cyclophosphamide and etoposide (p < 0.02). In patients with a CD4+ count < 0.01 x 10(9)/L, chemotherapy could be given at full doses in 90% of cycles with G-CSF compared to only 20% without it. G-CSF affected neither the frequency and duration of fever and hospitalization nor the complete remission and survival rates after stratification according to the CD4+ count. INTERPRETATION AND CONCLUSIONS: G-CSF support significantly improved dose-intensity in patients with HIV-related NHL treated with aggressive chemotherapy, particularly in the subgroup with a CD4+ count < 0.1 x 10(9)/L, but it did not improve their clinical outcome.
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Antibodies to the prion protein (PrP) have been critical to the neuropathological and biochemical characterization of PrP-related degenerative diseases in humans and animals. Although PrP is highly conserved evolutionarily, there is some sequence divergence among species; as a consequence, anti-PrP antibodies have a wide spectrum of reactivity (from strong immunopositivity to lack of reactivity) when challenged with PrP from diverse species. We have produced an antibody (anti-PrP95-108) raised against a synthetic peptide corresponding to residues 95 to 108 of human PrP and have characterized it by epitope mapping, Western immunoblot analysis, and immunohistochemistry. The antibody recognizes not only human PrP isoforms but also pathological PrP from all species tested (ie, cattle, sheep, hamsters, and mice). This is probably due to the fact that the epitope recognized by this antibody includes residues 100 to 108 of human PrP, a sequence that is also present in PrP of several other species. Thus, this reagent is valuable not only for the study of human prion diseases but also for analysis of the possible relationship between human and animal disorders.
INTRODUCTION: Gallstone ileus is a mechanical obstruction of the gastrointestinal tract caused by the impaction of one or more gallstones within the bowel lumen. The insidious clinical presentation and the lack of specific signs of biliary disease are responsible for the delayed preoperative diagnosis which leads to an overall mortality rate of 15%. MATERIAL AND METHODS: A series of 9 consecutive patients (7 women and 2 men, age ranging from 17 to 83 years), with surgically proved gallstone ileus, was retrospectively reviewed: the authors report the radiologic procedures performed preoperatively and the diagnostic findings. Plain abdominal radiographs were performed in 4 of 9 patients, abdominal US in 4 and CT in 7 patients. All radiologic examinations were retrospectively reviewed by all authors independently, to recognize the different signs of gallstone ileus. RESULTS: The signs of Rigler's triad (small bowel obstruction, ectopic gallstones and air in the biliary tree) were observed on plain abdominal films in two cases, and ectopic gallstones and pneumobilia in two cases. The ectopic gallstones and the small bowel obstruction were demonstrated on abdominal US images in three cases. Rigler's triad was identified on abdominal CT images in 4 cases, while two findings (small bowel obstruction and ectopic gallstones) were observed in three cases. CONCLUSIONS: When the bowel is obstructed by a radiopaque calcified stone, plain radiographs and US of the abdomen are usually enough to diagnose gallstone ileus and no further studies are required.
PURPOSE: To report our personal experience with the locoregional treatment of breast cancer. MATERIAL AND METHODS: Eighteen patients aged 33-67 years (mean: 54 years) were treated with 31 sessions of intra-arterial antiblastic infusion, 5 of them for neoadjuvant purposes (Group 1), 5 for palliation in unresectable tumors (Group 2) and 8 for cutaneous recurrences after mastectomy (Group 3). RESULTS: 2/5 CR and 3/5 PR were obtained in Group 1; 2/5 lesions were made resectable and 3/5 RP obtained in stage III or unresectable lesions (Group 2). Finally, 3/8 CR, 3/8 PR, 1/8 SD and 1/8 PD were observed in Group 3. An objective response according to WHO criteria was demonstrated in 15/18 cases (88%). We had no post-treatment hematologic complications, but one patient presented focal subcutaneous sclerosis and one cutaneous necrosis. CONCLUSIONS: The morphological efficacy of intraarterial antiblastic infusion in our series was similar to that of other series. No definitive conclusions can be drawn yet about clinical results and long-term survival. This poorly invasive and low risk procedure, which should be combined with other treatments, permits to reduce the extent of surgery and to treat skin recurrences.
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INTRODUCTION: We retrospectively reviewed the CT findings of the acute abdomen patients examined in the last two years to investigate the frequency of a new CT sign of intestinal infarction, the pneumoretroperitoneum, and its association with other CT findings highly suggestive of this condition. MATERIAL AND METHODS: The CT findings of 60 patients with diagnostic confirmation of intestinal infarction were retrospectively reviewed. CT was performed without (no. = 55) and with (no. = 5) oral administration of contrast material and without (no. = 3) and with (no. = 57) the i.v. injection of nonionic contrast agents in repeated 50 mL boluses. To assess the specificity of this sign, we selected a control group of 400 patients submitted to CT for acute abdomen, but not blunt trauma; 19 of these patients had pneumoretroperitoneum. RESULTS: Pneumoperitoneum was found in five patients with intestinal infarction; it was an isolated sign in two cases and it was associated with few small perihepatic air bubbles in one case. Finally, it was associated with highly suggestive findings of late intestinal infarction in the other two cases. All cases of pneumoretroperitoneum in the control group had been correctly referred to other diseases by previous plain film and/or CT findings and surgery and/or endoscopy confirmed this diagnosis. DISCUSSION AND CONCLUSIONS: Pneumoretroperitoneum has been described as a complication of different benign or severe disorders; prompt recognition of its origin is essential since surgical and/or septic conditions may be involved. However, if the patient's history is negative for abdominal trauma, gastroduodenal ulcer or sepsis, pneumoretroperitoneum is generally cured with conservative treatment. Intestinal infarction or severe ischemia, a usually surgical conditions, should be considered among the different causes of pneumoretroperitoneum alone or associated with pneumoperitoneum or with highly suggestive late findings of infarction such as portal venous gas or pneumatosis intestinalis. This sign had a non-negligible incidence in intestinal infarction in our review (8.5%), but it should be known of and sought with specific window setting to enhance gas depiction on CT images to avoid false negatives.
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A morphometric investigation disclosed most thalamic nuclei severely degenerated in two patients with fatal familial insomnia. Associative and motor nuclei lost 90% neurons, and limbic-paralimbic, intralaminar and reticular nuclei lost 60%. These findings point to the disorganization of most thalamic circuits as a condition necessary for the sleep-wake rhythm being affected.
The influence of immunodeficiency on the course of hepatitis C virus (HCV) infection is still debated, although a worsening effect has been suggested. We compared the characteristics of hepatitis C in two groups of hematologic patients with different levels of immunocompetence who acquired the same virus strain after treatment with contaminated intravenous immunoglobulins (IVIG). Indications for IVIG therapy were idiopathic thrombocytopenic purpura (ITP) in six patients and hypogammaglobulinemia in 7 patients with various hematologic disorders, who were defined immunodeficient (ID). Infection rate was 100%. Five ID patients never developed HCV antibodies despite serum HCV-RNA positivity. The same HCV genotype was shown in 10 patients tested. Moreover, E1-E2 gene partial nucleotide sequencing, performed in four patients, showed identical or closely related amino acid sequences, thus strongly supporting the hypothesis of a common source of infection. Clinical acute infection did not differ significantly between the two groups, but subsequent liver failure developed in five of the seven ID patients and in none of the ITP patients (P = .04). Liver biopsy, performed in three cases, documented HCV as the only cause of liver damage. Six ID patients died, with liver disease being the primary cause of death in four cases and a contributory cause in two cases. Their median survival after IVIG was 12 months, significantly worse than that of ITP patients (P = .0028). We conclude that immunodeficiency markedly worsens the course of IVIG-acquired HCV infection in hematologic patients.
SNARE proteins represent a family of related proteins that are thought to have a central role in vesicle targeting and fusion in all eukaryotic cells. The binding properties of the neuronal proteins synaptobrevin 1 (VAMP1), syntaxin 1, SNAP-25, and soluble N-ethylmaleimide-sensitive factor attachment protein (alpha-SNAP), have been extensively studied. We report here the first biochemical characterization of a nonneuronal SNARE complex using recombinant forms of the yeast exocytic SNARE proteins Snc1, Sso1, and Sec9 and the yeast alpha-SNAP homolog, Sec17. Despite the low level of sequence identity, the association properties of the yeast and neuronal complexes are remarkably similar. The most striking difference we have found between the yeast and neuronal proteins is that individually neither of the target membrane SNAREs (t-SNAREs), Sso1 nor Sec9, show any detectable binding to the synaptobrevin homolog, Snc1. However, as a hetero-oligomeric complex, Sec9 and Sso1 show strong binding to Snc1. The clear dependence on the Sso1-Sec9 complex for t-SNARE function suggests that regulating the formation of this complex may be a key step in determining the site of vesicle fusion. In addition, we have used this in vitro assay to examine the biochemical effects of several mutations in Sec9 that result in pronounced growth defects in vivo. As expected, a temperature-sensitive mutation in the region most highly conserved between Sec9 and SNAP-25 is severely diminished in its ability to bind Sso1 and Snc1 in vitro. In contrast, a temperature-sensitive mutation near the C terminus of Sec9 shows no defect in SNARE binding in vitro. Similarly, a deletion of the C-terminal 17 residues, which is lethal in vivo, also binds Sso1 and Snc1 normally in vitro. Interestingly, we find that these same two C-terminal mutants, but not mutants that show SNARE assembly defects in vitro, act as potent dominant negative alleles when expressed behind a strong regulated promoter. Taken together these results suggest that the C-terminal domain of Sec9 is specifically required for a novel interaction that is required at a step following SNARE assembly.