20 results on '"Bozzola C"'
Search Results
2. Il peso della non-diagnosi: deficit di adenina fosforibosil transferasi diagnosticato in seguito a nefropatia da cristalli in ricevente di trapianto renale
- Author
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Airoldi, A., primary, Fogazzi, G.B., additional, Palmieri, D., additional, Lazzarich, E., additional, Micheli, V., additional, Bozzola, C., additional, Monga, G., additional, Bollée, G., additional, Daudon, M., additional, and Stratta, P., additional more...
- Published
- 2018
- Full Text
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Catalog
3. Non-invasive Tests to diagnose Helicobacter pylori Infection in very young Children
- Author
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Oderda, G., Rapa, A., Boldorini, R., Bozzola, C., Zavallone, A., Strigini, L., Shcherbakova, M.Y., and Shcherbakov, P.
- Subjects
Gastrointestinal diseases -- Research ,Health ,Research - Abstract
G. Oderda [1] A. Rapa [2] R. Boldorini [3] C. Bozzola [2] A. Zavallone [2] L. Strigini [2] M.Y. Shcherbakova [4] P. Shcherbakov [4] [14/01] [*] Non-invasive Tests to diagnose [...]
- Published
- 2001
4. Fatal Splenic Rupture in a Pregnant Woman With Hemoglobin C/β-Thalassemia and Myeloid Metaplasia
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Renzo Luciano BOLDORINI, Bozzola, C., Gallarotti, E., and Ribaldone, R.
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Adult ,Pregnancy Complications, Hematologic ,beta-Thalassemia ,Hemoglobin C ,Hemorrhage ,Splenic Rupture ,General Medicine ,Peritoneal Diseases ,Pathology and Forensic Medicine ,Medical Laboratory Technology ,Fatal Outcome ,Pregnancy ,Primary Myelofibrosis ,Pregnancy Trimester, Second ,Humans ,Female ,Fetal Death - Abstract
Splenic rupture with intraperitoneal hemorrhage is a fatal condition that is rarely encountered during the third trimester of pregnancy; its pathogenetic mechanisms and causes are largely unknown. We report a case of splenic rupture in a pregnant woman that caused the death of the mother and child. The patient was a carrier of double heterozygosis for hemoglobin C/β-thalassemia. Spleen and liver enlargement due to extramedullary hematopoiesis was found at autopsy. Our data suggest that rare and hidden hematologic disorders should be considered as possible causes of splenic enlargement and rupture during pregnancy. more...
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- 2006
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5. Heterozygous -globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C
- Author
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Sartori, M., primary, Andorno, S., additional, Pagliarulo, M., additional, Rigamonti, C., additional, Bozzola, C., additional, Pergolini, P., additional, Rolla, R., additional, Suno, A., additional, Boldorini, R., additional, Bellomo, G., additional, and Albano, E., additional more...
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- 2007
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6. Milder inflammation in childhood Helicobacter pylori gastritis (a morphometric and morphologic analysis).
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Bozzola, C., Boldorini, R., Guidali, P., Paracchini, R., Rapa, A., and Oderda, G.
- Subjects
- *
HELICOBACTER pylori , *GASTRITIS , *JUVENILE diseases - Abstract
Few data are available on childhood Helicobacter pylori gastritis and its relation to age. We investigated pathologic changes in gastric mucosa of children and adults of different age. Materials and Methods: Gastric mucosa specimens of 74 children (age range 1-18 years) were compared with those of 51 adults (age range, 2970). All had H. pylori gastritis without peptic ulcer. Morphologic analysis according to the Updated Sydney System and morphometric analysis to determine inflammatory cell the density (cell/mm2) were performed. Results: Pangastritis was less frequent in children (92% vs. 100% in adults, p = 0.03) and morphologic scores were significantly lower in children than in adults (4 vs. 6, p = 0.0002 in the antrum; 4 vs. 7, p = 0.000 in the corpus). Children had lower density of all cell types, and lower frequency of neutrophils' infiltration than adults in the corpus (54% vs. 78%, p < 0.009). In both groups a significant correlation was found between morphologic scores and neutrophils' density in the antrum (r = 0.608, p < 0.0001 in children; r = 0.881, p < 0.0001 in adults) and in the corpus (r = 0.780, p < 0.0001 in children; r = 0.908, p < 0.0001 in adults). Atrophic gastritis (4%) and intestinal metaplasia (1%) were exceptional in children and significantly more frequent in adults. Conclusions: Inflammation in childhood H. pylori gastritis is milder than in adults because of lower neutrophil prevalence and density in gastric mucosa. Pangastritis is less frequent in children but a constant finding in adults. Atrophy and intestinal metaplasia are rare in childhood gastritis. There is a good correlation between morphologic scores and morphometric evaluation of H. pylori gastritis both in children and adults. The Updated Sydney System seems suitable for evaluation of gastritis also in children. [ABSTRACT FROM AUTHOR] more...
- Published
- 2002
7. Comparison Between Tracheal Wash and Bronchoalveolar Lavage Cytology for the Assessment of Exercise-Induced Pulmonary Hemorrhage (EIPH) in Racehorses.
- Author
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Bozzola C, Sala G, Schinardi L, Stancari G, Stucchi L, Ferrucci F, and Zucca E
- Abstract
Exercise-Induced Pulmonary Hemorrhage (EIPH) is a common pulmonary disease among racehorses, diagnosed by the detection of blood in the trachea after strenuous exercise or the presence of hemosiderophages in the bronchoalveolar lavage fluid (BALF). Although the latter is considered the most sensitive method to diagnose EIPH, it is perceived as a less practical and more invasive procedure compared to tracheal wash (TW) collection among racehorse trainers. The present retrospective study aimed to verify the agreement between Tracheal wash and BALF cytology in assessing EIPH in racehorses. For this purpose, cytological data from 172 patients regarding hemosiderophage percentage, hemosiderin score, and percentage of recent, intermediate, and old EIPH were reviewed, and the simplified Total Hemosiderin Score (sTHS) was calculated. Non-parametric statistical tests were used to assess the difference and the correlation between TW and BALF. The two cytological methods strongly agreed in evaluating EIPH in racehorses for hemosiderophage percentage (ρ = 0.89, p < 0.001), hemosiderin score (k = 0.63, p < 0.001), sTHS (ρ = 0.87, p < 0.001), percentage of recent EIPH (ρ = 0.95, p < 0.001), intermediate EIPH (ρ = 0.92, p < 0.001), and old EIPH (ρ = 0.85, p < 0.001). In conclusion, TW showed to be a reliable method, which might substitute BALF in assessing EIPH in racehorses. more...
- Published
- 2024
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8. Evaluation of fitness parameters in relation to racing results in 245 Standardbred trotter horses submitted for poor performance examination: A retrospective study.
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Lo Feudo CM, Stucchi L, Stancari G, Conturba B, Bozzola C, Zucca E, and Ferrucci F
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- Horses, Animals, Retrospective Studies, Hematocrit, Exercise Test, Sports, Physical Conditioning, Animal physiology
- Abstract
In racehorses, the associations between physiological parameters obtained by exercise testing and racing results have been questioned. We hypothesized that fitness variables measured during a treadmill incremental test may be related with racing outcomes and lifetime career. Our study aimed to investigate the role of fitness parameters obtained during a treadmill test in performance evaluation and career prediction in poorly performing Standardbreds, through a retrospective review of the clinical records of 245 trotters that underwent an incremental treadmill test. Several fitness parameters were assessed, and their correlations with racing data (number of starts, wins and placings) in the 3 months before and 6 months after examination were evaluated; moreover their associations and predictive power for lifetime racing results and earnings were considered. The associations between fitness parameters and measures of racing performance as well as the associations between racing results over time were evaluated by Spearman's correlation in the whole population and in different age groups. Multivariate regression models predicting the total number of starts, wins and earnings based on fitness parameters were constructed, controlling for age, weight, and sex. Maximum speed and the speed at the aerobic threshold were the parameters correlated with the most racing results, in the three evaluation periods (3 months before, 6 months after, lifetime). Other parameters predictive of career outcomes were maximum blood lactate concentration and maximum hematocrit. Interestingly, in 2-year-old Standardbreds, the only parameters correlated with racing results were maximum hematocrit and minimum pH, suggesting they may reflect individual potential. Both the racing results obtained before and after examination were predictive of lifetime career, with those following hospitalization being more strongly correlated. In conclusion, parameters obtained during treadmill tests both reflect the racing outcomes and the career potential., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Lo Feudo et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.) more...
- Published
- 2023
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9. Associations between Medical Disorders and Racing Outcomes in Poorly Performing Standardbred Trotter Racehorses: A Retrospective Study.
- Author
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Lo Feudo CM, Stucchi L, Stancari G, Conturba B, Bozzola C, Zucca E, and Ferrucci F
- Abstract
Poor performance in racehorses is commonly associated with subclinical diseases. This study aims to evaluate the associations between medical disorders and racing results in Standardbred trotters. The clinical records of 248 poorly performing Standardbreds were retrospectively reviewed, and their racing results were extracted from an online database, concerning the periods 3 months before and 6 months after hospitalization and the entire lifetime. Generalized linear models were used to evaluate the effects of different disorders on racing outcomes. Airway neutrophilia was associated with limiting lifetime starts and wins pre- and post-hospitalization, while mastocytosis was associated with less wins in the post-hospitalization period. Therefore, lower airway inflammation showed both short- and long-term impacts on racing performance. Severe upper airway obstructions and gastric ulcers showed associations with less placings in the post-discharge period but no long-term influence on performance. The significance of exertional rhabdomyolysis was indeterminable, yet interference with the number of starts in the post-discharge period was reported and associated with lower total career earnings. Exercise-induced pulmonary hemorrhage and cardiac arrhythmias were not associated with worse racing outcomes: therefore, their role in poor performance remains unclear. more...
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- 2023
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10. Inducible T-Cell Costimulator Mediates Lymphocyte/Macrophage Interactions During Liver Repair.
- Author
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Ramavath NN, Gadipudi LL, Provera A, Gigliotti LC, Boggio E, Bozzola C, Albano E, Dianzani U, and Sutti S
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- Animals, CD8-Positive T-Lymphocytes metabolism, Carbon Tetrachloride administration & dosage, Carbon Tetrachloride toxicity, Cell Communication immunology, Disease Models, Animal, Humans, Inducible T-Cell Co-Stimulator Ligand metabolism, Inducible T-Cell Co-Stimulator Protein genetics, Liver cytology, Liver drug effects, Liver immunology, Liver pathology, Liver Failure, Acute chemically induced, Liver Failure, Acute pathology, Macrophages metabolism, Male, Mice, Mice, Knockout, Signal Transduction immunology, CD8-Positive T-Lymphocytes immunology, Inducible T-Cell Co-Stimulator Protein metabolism, Liver Failure, Acute immunology, Liver Regeneration immunology, Macrophages immunology
- Abstract
The liver capacity to recover from acute liver injury is a critical factor in the development of acute liver failure (ALF) caused by viral infections, ischemia/reperfusion or drug toxicity. Liver healing requires the switching of pro-inflammatory monocyte-derived macrophages(MoMFs) to a reparative phenotype. However, the mechanisms involved are still incompletely characterized. In this study we investigated the contribution of T-lymphocyte/macrophage interaction through the co-stimulatory molecule Inducible T-cell co-stimulator (ICOS; CD278) and its ligand (ICOSL; CD275) in modulating liver repair. The role of ICOS/ICOSL dyad was investigated during the recovery from acute liver damage induced by a single dose of carbon tetrachloride (CCl
4 ). Flow cytometry of non-parenchymal liver cells obtained from CCl4 -treated wild-type mice revealed that the recovery from acute liver injury associated with a specific up-regulation of ICOS in CD8+ T-lymphocytes and with an increase in ICOSL expression involving CD11bhigh /F4-80+ hepatic MoMFs. Although ICOS deficiency did not influence the severity of liver damage and the evolution of inflammation, CCl4 -treated ICOS knockout (ICOS-/- ) mice showed delayed clearance of liver necrosis and increased mortality. These animals were also characterized by a significant reduction of hepatic reparative MoMFs due to an increased rate of cell apoptosis. An impaired liver healing and loss of reparative MoMFs was similarly evident in ICOSL-deficient mice or following CD8+ T-cells ablation in wild-type mice. The loss of reparative MoMFs was prevented by supplementing CCl4 -treated ICOS-/- mice with recombinant ICOS (ICOS-Fc) which also stimulated full recovery from liver injury. These data demonstrated that CD8+ T-lymphocytes play a key role in supporting the survival of reparative MoMFs during liver healing trough ICOS/ICOSL-mediated signaling. These observations open the possibility of targeting ICOS/ICOSL dyad as a novel tool for promoting efficient healing following acute liver injury., Competing Interests: UD, EB, and LCG are listed as inventors on the patent PCT/IB2019/050154 “Novel anti-tumor therapeutic agents”. EB, UD, and LCG are founders of an University Spin-off (NOVAICOS). The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Ramavath, Gadipudi, Provera, Gigliotti, Boggio, Bozzola, Albano, Dianzani and Sutti.) more...- Published
- 2021
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11. Metastatic Mediastinal Germ-Cell Tumor and Concurrent COVID-19: When Chemotherapy Is Not Deferrable.
- Author
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Pedrazzoli P, Rondonotti D, Cattrini C, Secondino S, Ravanini P, Piralla A, Sainaghi PP, Brustia D, Bozzola C, Gariglio M, Cossandi C, Rosti G, and Gennari A
- Subjects
- Humans, Pandemics, SARS-CoV-2, COVID-19, Mediastinal Neoplasms complications, Mediastinal Neoplasms drug therapy, Neoplasms, Germ Cell and Embryonal complications, Neoplasms, Germ Cell and Embryonal drug therapy
- Published
- 2021
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12. Is there a role for adaptive immunity in nonalcoholic steatohepatitis?
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Sutti S, Jindal A, Bruzzì S, Locatelli I, Bozzola C, and Albano E
- Abstract
The growing diffusion of nonalcoholic fatty liver disease (NAFLD) is a consequence of the worldwide increase in the prevalence of obesity. Oxidative stress is widely recognized to play a pivotal role in NAFLD evolution to nonalcoholic steatohepatitis (NASH). Here we review recent evidence suggesting that oxidative stress-derived antigens originating within fatty livers stimulate both humoral and cellular adaptive immune responses and the possible mechanisms involved in sustaining hepatic inflammation in NASH. more...
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- 2015
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13. Pitfall in nephrology: contrast nephropathy has to be differentiated from renal damage due to atheroembolic disease.
- Author
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Stratta P, Bozzola C, and Quaglia M
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- Humans, Kidney Diseases classification, Kidney Diseases etiology, Kidney Diseases pathology, Predictive Value of Tests, Prognosis, Risk Assessment, Risk Factors, Terminology as Topic, Contrast Media adverse effects, Embolism, Cholesterol complications, Kidney pathology, Kidney Diseases diagnosis
- Abstract
Introduction: The topic of contrast-induced nephropathy (CIN) has been receiving an enormous amount of interest in recent times; however, this review is not a review of what CIN is, but what it is not., Methods: We will review the main topics demonstrating that the post hoc ergo propter hoc assumption that renal impairment occurring after contrast medium (CM) infusion is necessarily because of it, is wrong, as we are dealing with different diseases, depending on the way the CM is administered and on the type of patient., Results: After >1,000 often repetitive papers, we must deal with an unacceptably wide range of incidences of CIN, with completely different prognoses and astonishingly conflicting results regarding the efficacy of preventive measures with the exception of hydration. So what went wrong? How to separate tares from wheat? When years ago we challenged the diagnosis of CIN, the words cholesterol embolism had never appeared in this setting. Now, we can split the possible renal dysfunctions following CM administration into CM-related hemodynamic and/or tubular damage, cholesterol embolism, ischemia from acute blood loss or hypotension/hypoperfusion and nephrotoxicity from concomitant drugs., Conclusions: In a setting regarding millions of patients and millions of dollars/year, in order to clarify the true renal damage directly related to CM, we ask for prospective studies differentiating cohorts receiving intravenous and intra-arterial, transradial and transfemoral injections, and clinically relevant renal outcomes, thus avoiding the dangers that can come from the idolatry of a surrogate end point such an asymptomatic 25% transient increase of serum creatinine. To avoid that, patients may lose the possibility of a more useful radiological diagnosis, because of an exaggerated suspicion of risk. more...
- Published
- 2012
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14. Rheumatoid factor: the end of the term as we know it? Comment on the editorial by Liao et al.
- Author
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Stratta P, Bozzola C, and Quaglia M
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- Humans, Arthritis, Rheumatoid blood, Rheumatoid Factor blood
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- 2012
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15. Renal outcome and monoclonal immunoglobulin deposition disease in 289 old patients with blood cell dyscrasias: a single center experience.
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Stratta P, Gravellone L, Cena T, Rossi D, Gaidano G, Fenoglio R, Lazzarich E, Quaglia M, Airoldi A, Bozzola C, Monga G, Valente G, Canavese C, and Magnani C
- Subjects
- Aged, Humans, Kidney Diseases diagnosis, Multiple Myeloma complications, Multiple Myeloma diagnosis, Paraproteinemias diagnosis, Risk Factors, Treatment Outcome, Blood Cells pathology, Kidney Diseases complications, Paraproteinemias complications
- Abstract
Monoclonal components (MC) formed by chains/fragments of intact/truncated globulin components produced in different lymphoproliferative diseases are responsible for monoclonal immunoglobulin deposition disease (MIDD) and consequent tissue damage by organized (amyloid fibrils) or non-organized (amorphous) deposits. The kidneys are the most commonly affected organs in MIDD, and renal failure represents an important adverse factor for prognosis. The renal outcome and the role of renal pathology in diagnosing MIDD was evaluated in 289 elderly patients with multiple myeloma (MM, n=115) and monoclonal gammopathy (MGUS, n=174). Renal impairment was the only significant risk factor for patient death, while significant risk factors for renal impairment were diabetes (HR 3.65, 95% CI: 2.08-6.41), light chain (LC) proteinuria (HR 2.18; 95% CI: 1.10-4.32) and type of MC (p=0.0019). Renal pathology documented MIDD in 12/30 cases (40%): six cases of AL-amyloidosis, two of LC disease, one of heavy chain disease and three of cast nephropathy, as well as four cases of glomerulonephritis, eight of arteriolosclerosis and six of normal picture. Main conclusions are that diabetes, sharing common glomerular damage with LC disease, is the strongest risk factor for progression of renal disease, and glomerular proteinuria or heavy LC proteinuria should raise a strong suspicion index of MIDD and prompt pathology assessment to reach the correct diagnosis., (Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.) more...
- Published
- 2011
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16. The missing 'interstitial vasculitis'.
- Author
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Airoldi A, Bozzola C, Quaglia M, and Stratta P
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- Acute Disease, Humans, Nephritis, Interstitial complications, Vasculitis complications
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- 2011
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17. Phlebotomy improves histology in chronic hepatitis C males with mild iron overload.
- Author
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Sartori M, Andorno S, Rossini A, Boldorini R, Bozzola C, Carmagnola S, Del Piano M, and Albano E
- Subjects
- Adult, Aged, Female, Hepatitis C, Chronic physiopathology, Humans, Iron Overload physiopathology, Liver metabolism, Male, Middle Aged, ROC Curve, Regression Analysis, Retrospective Studies, Hepatitis C, Chronic pathology, Iron Overload pathology, Iron Overload therapy, Liver pathology, Phlebotomy
- Abstract
Aim: To investigate the usefulness of mild iron depletion and the factors predictive for histological improvement following phlebotomy in Caucasians with chronic hepatitis C (CHC)., Methods: We investigated 28 CHC Caucasians with persistently elevated serum aminotransferase levels and non responders to, or unsuitable for, antiviral therapy who underwent mild iron depletion (ferritin < or = 70 ng/mL) by long-term phlebotomy. Histological improvement, as defined by at least one point reduction in the staging score or, in case of unchanged stage, as at least two points reduction in the grading score (Knodell), was evaluated in two subsequent liver biopsies (before and at the end of phlebotomy, 48 +/- 16 mo apart)., Results: Phlebotomy showed an excellent safety profile. Histological improvement occurred in 12/28 phlebotomized patients. Only males responded to phlebotomy. At univariate logistic analysis alcohol intake (P = 0.034), high histological grading (P = 0.01) and high hepatic iron concentration (HIC) (P = 0.04) before treatment were associated with histological improvement. Multivariate logistic analysis showed that in males high HIC was the only predictor of histological improvement following phlebotomy (OR = 1.41, 95% CI: 1.03-1.94, P = 0.031). Accordingly, 12 out of 17 (70%) patients with HIC > or = 20 micromol/g showed histological improvements at the second biopsy., Conclusion: Male CHC Caucasian non-responders to antiviral therapy with low-grade iron overload can benefit from mild iron depletion by long-term phlebotomy. more...
- Published
- 2010
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18. Lymph node isolated tumor cells and micrometastases in pathological stage I non-small cell lung cancer: prognostic significance.
- Author
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Rena O, Carsana L, Cristina S, Papalia E, Massera F, Errico L, Bozzola C, and Casadio C
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- Adult, Aged, Carcinoma, Non-Small-Cell Lung pathology, Carcinoma, Non-Small-Cell Lung surgery, Female, Follow-Up Studies, Humans, Lung Neoplasms surgery, Lymph Node Excision, Lymphatic Metastasis, Male, Middle Aged, Neoplasm Invasiveness, Neoplasm Recurrence, Local, Neoplasm Staging, Prognosis, Survival Analysis, Carcinoma, Non-Small-Cell Lung secondary, Lung Neoplasms pathology
- Abstract
Objective: To determine the prevalence and prognostic significance of lymph node micrometastases and isolated tumor cells (ITC) in patients submitted for radical resection for pathological stage I non-small cell lung cancer (NSCLC)., Methods: From January 1998 through December 2005, 87 consecutive pT1-2, pN0 NSCLC patients were enrolled. Surgical specimens were submitted to pathological routine examinations to define histotype, grade, stage, vascular invasion, necrosis and tumor proliferative index. A total of 694 regional lymph nodes were examined by means of serial sections stained with hematoxylin and eosin and labelled by immunohistochemistry (antibody AE1/AE3, DAKO). Relationships between these parameters and patients' prognosis were investigated., Results: By histological examination, there were 36 squamous-cell carcinoma, 38 adenocarcinoma and 13 large-cell carcinoma. Micrometastases and ITC were detected in 19 lymph nodes (2.7%) of 14 patients (16%). Significant correlation was observed between micrometastases or ITC and adenocarcinoma (p=0.03) and the absence of necrosis (p=0.05). No relationship was demonstrated between micrometastases or ITC and T-status, vascular invasion or proliferative index (p>0.05). Median follow-up was 3.2 (range 0.25-8.6) years. Two- and 5-year disease-free survival was similar for patients with and without micrometastases or ITC (79% and 64% vs 81% and 64%, respectively). Recurrence occurred in three patients with (two local, 66%) and in 21 patients without micrometastases or ITC (three local, 14%) (p=0.186). By multivariate analysis only T-status was demonstrated to be a significant prognostic factor., Discussion: Micrometastases or ITC to regional lymph nodes are demonstrated to be not a rare aspect of pathological stage I resected lung cancer. In our series, the presence of lymph nodes micrometastases does not affect long-term disease-free survival. more...
- Published
- 2007
- Full Text
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19. Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.
- Author
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Sartori M, Andorno S, Pagliarulo M, Rigamonti C, Bozzola C, Pergolini P, Rolla R, Suno A, Boldorini R, Bellomo G, and Albano E
- Subjects
- Adult, Aged, DNA Mutational Analysis methods, Disease Progression, Female, Genetic Predisposition to Disease, Hemochromatosis complications, Hemochromatosis genetics, Hepatitis C, Chronic pathology, Heterozygote, Humans, Iron metabolism, Iron Overload pathology, Iron Overload virology, Liver metabolism, Liver Cirrhosis pathology, Liver Cirrhosis virology, Male, Middle Aged, Risk Factors, Globins genetics, Hepatitis C, Chronic complications, Iron Overload genetics, Liver Cirrhosis genetics, Mutation
- Abstract
Background: Iron accumulation is a well-known risk factor for the progression of chronic hepatitis C (CHC) to fibrosis. However, the profibrogenic role of the genes controlling iron homeostasis is still controversial., Aim: To evaluate the relative role of haemachromatosis (HFE), ferroportin and beta-globin gene mutations in promoting iron accumulation and fibrosis in patients with CHC., Methods: Genetic analysis was performed together with the assessment of hepatic iron content and histology in 100 consecutive HIV-antibody and hepatitis B surface antigen-negative patients with biopsy-proven CHC., Results: Among the patients investigated, 12 were heterozygous for various beta-globin gene mutations (39[C-->T], IVS1.1[G-->A], 22 7 bp deletion and IVS1.6[T-->C]) and 29 carried HFE (C282Y, H63D and S65C) gene mutations. One further patient was heterozygous for both HFE (H63D) and beta-globin (39[C-->T]) variants, whereas 58 had the wild-type alleles of both the genes. Hepatic iron concentration (HIC) and hepatic stainable iron were significantly higher (p<0.05) in patients with CHC carrying beta-globin mutations than in those with HFE mutations or the wild-type alleles. Multivariate analysis confirmed that the presence of beta-globin mutations was independently associated with both HIC (p = 0.008) and hepatic-stainable iron (odds ratio (OR) 6.11; 95% CI 1.56 to 23.92; p = 0.009). Moderate/severe fibrosis or cirrhosis (Ishak's score >2) was observed in 48 of 100 patients. Logistic regression demonstrated that age (OR 1.05; 95% CI 1.02 to 1.09; p<0.005) and beta-globin mutations (OR 4.99; 95% CI 1.22 to 20.3; p = 0.025) were independent predictors of the severity of fibrosis., Conclusions: Heterozygosis for beta-globin mutations is a novel risk factor for both hepatic iron accumulation and the progression to fibrosis in patients with CHC. more...
- Published
- 2007
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20. Fatal splenic rupture in a pregnant woman with hemoglobin C/beta-thalassemia and myeloid metaplasia.
- Author
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Boldorini R, Bozzola C, Gallarotti E, and Ribaldone R
- Subjects
- Adult, Fatal Outcome, Female, Hemorrhage etiology, Hemorrhage pathology, Humans, Peritoneal Diseases etiology, Peritoneal Diseases pathology, Pregnancy, Pregnancy Trimester, Second, Primary Myelofibrosis pathology, Splenic Rupture pathology, beta-Thalassemia genetics, beta-Thalassemia pathology, Fetal Death, Hemoglobin C analysis, Pregnancy Complications, Hematologic, Primary Myelofibrosis complications, Splenic Rupture etiology, beta-Thalassemia complications
- Abstract
Splenic rupture with intraperitoneal hemorrhage is a fatal condition that is rarely encountered during the third trimester of pregnancy; its pathogenetic mechanisms and causes are largely unknown. We report a case of splenic rupture in a pregnant woman that caused the death of the mother and child. The patient was a carrier of double heterozygosis for hemoglobin C/beta-thalassemia. Spleen and liver enlargement due to extramedullary hematopoiesis was found at autopsy. Our data suggest that rare and hidden hematologic disorders should be considered as possible causes of splenic enlargement and rupture during pregnancy. more...
- Published
- 2006
- Full Text
- View/download PDF
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