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Biomedical subjects

F Puglisi

Publications and source records attributed to F Puglisi.

At least 37 records · Page 2Linked to original sources

[Papillary lesions of the breast: diagnostic imaging and contribution of percutaneous needle biopsy with 14G needle].

PURPOSE: To evaluate the presence of suggestive mammographic, US, color-Doppler, RM findings of 33 PLB and to show the accuracy of the large-core biopsy in evaluating these lesions. MATERIAL AND METHODS: A retrospective review of imaging-guided large-core biopsy of 860 consecutive lesions revealed that PLB were diagnosed in 31/33 cases and 3 were suspicious papillary lesions. Surgical correlation was available for all these lesions. Mammography and US were performed in all patients, Color-Doppler in 13/33 and MR in 10/33. RESULTS: Histological findings by percutaneous biopsy demonstrated 26 (79%) benign, 3 (9%) atypical, and 4 (12%) malignant lesions. Histological findings after surgery confirmed the diagnosis for benign and malignant lesions, while of the 3 atypical lesions, 1 was benign and 2 were malignant. One encysted papillary carcinoma in situ at core-biopsy was classified as invasive papillary carcinoma after surgery. PLB were usually found (52%) in subareolar location and the mean size was 17 mm (range 5-60 mm). The most frequent mammographic appearance of benign PLB was of a well-defined (71%), oval (53%) mass. The microcalcifications had variable features; they were isolated in 3/27 (15%) cases and associated with masses in 4/27 (20%). The mammographic finding of papillary carcinoma was of a well-defined (50%) or ill-defined, oval (50%) or lobulated (50%) mass, but never of a spiculated mass. US finding of the benign PLB most commonly showed a well-defined (84%), oval (84%), complex solid/cystic (52%) mass with frequently (60%) posterior enhancement. US finding of papillary carcinoma was of a well-defined (50%) or ill-defined (50%), oval (50%) or lobulated (50%) mass, most commonly solid-inhomogenous-hypoechoic. Color-Doppler showed high blood flow in 8/10 benign PLB and in 2/3 malignant PLB. Contrast-enhanced MR imaging demonstrated usually well-circumscribed, round masses (71%). The intensity/time curve showed marked focal enhancement (peak signal intensity over 70% at the first minute) in both benign and malignant lesions. DISCUSSION: Often the patients with PBL were symptomatic (for presence of nipple discharge or palpable mass). 31/33 papillary lesions identified at the subsequent imaging-guided large-core biopsy and in the 3/33 remaining lesions percutaneous core-biopsy required a subsequent surgical biopsy for the atypical papillary lesions. US proved to have the highest sensitivity, showing the suggestive feature of a frond-like mass within a dilated duct, and color-Doppler demonstrated high blood flow (which should be considered in differential diagnosis of galactocele). Mammographic finding of papillary lesions was often consistent with benign lesions (fibroadenoma, cyst). MR confirmed the high vascularization of these lesions, showing marked enhancement of the solid component. CONCLUSIONS: US, with Color-Doppler, proved to be the most useful examination for the identification and demonstration of the solid component of these lesions, which, observed further diagnostic investigation. As no definite mammographic, sonographic or RM pattern could be identified to differentiate between benign and malignant PLB, core-biopsy was required. Percutaneous biopsy has shown to be reliable in the diagnosis of benign and malignant PLB (without any false negative): infact, any atypical lesions require surgical examination. The framing of benign and malignant PLB with imaging and core-biopsy was useful because the frequent association of benign PLB with concurrent or subsequent breast carcinoma suggests surgical excision and radiological follow-up.

Adult↗

TSH controls Ref-1 nuclear translocation in thyroid cells.

Ref-1 (called also APE) is a bifunctional protein playing a role in a large variety of cell functions. It is a major member of the DNA base excision repair system. Moreover, through reduction of cysteine residues, Ref-1 controls the activity of several transcription factors. It has been previously demonstrated that TSH up-regulates Ref-1 gene expression in thyroid cells. By using the rat FRTL-5 cell line, we demonstrate that TSH controls Ref-1 intracellular localization. Western blot experiments indicate that addition of TSH to the culture medium increases the Ref-1 cytoplasm-to-nucleus translocation. This phenomenon occurs at early times of TSH stimulation and is not dependent on protein neosynthesis. The Ref-1 cellular compartmentalization was also investigated in human thyroid tumors. A Ref-1 nuclear/cytoplasmic ratio difference between normal and cancerous thyroid tissues was observed. These results suggest that Ref-1 localization may have a critical role in the control of thyroid cell functions.

Animals↗

Factor V leiden increases plasma F1+2 levels both in normal and deep venous thrombosis subjects.

BACKGROUND AND OBJECTIVE: A simple approach to understanding molecular mechanisms leading to thrombosis is the definition of how genetic factors influence biochemical parameters of coagulation. Conflicting data have been reported regarding the role that the genotype of factor V plays in the control of plasma F1+2 levels. The aim of this study was to test whether the factor V Leiden mutation affects F1+2 levels. DESIGN AND METHODS: We studied the effect of factor V Leiden mutation (detected by the polymerase chain reaction technique) on plasma F1+2 levels in 418 normal subjects and 39 subjects affected by deep venous thrombosis. RESULTS: In both normal subjects and those with venous thrombosis, heterozygotes for the Leiden mutation showed significantly higher plasma levels of F1+2 (p<0.0001 and p<0.005, respectively). Subjects with venous thrombosis had a higher allelic frequency of the Leiden mutation than normal subjects (11.5% and 3.1%, respectively). INTERPRETATION AND CONCLUSIONS: The results indicate that the genotype of factor V is a determinant of plasma F1+2 concentration. The allelic frequency of Leiden mutation in our normal subjects is higher than that found in other Italian populations but similar to that reported for populations of north- and middle-Europe. This finding is consistent with the peculiar ancestry and history of Friuli (the area in which subjects for this study were recruited), with respect to other Italian regions.

Adult↗

[NMR cholangiography in the diagnostic algorithm of candidates to video laparocholecystectomy].

BACKGROUND: High resolution magnetic resonance cholangiopancreatography (MRCP) is a non invasive imaging modality for depicting the pancreatobiliary tree. It can demonstrate dilation, stenosis and intraductal filling defects of both the biliary and the pancreatic duct. The imaging quality of high resolution MRCP is excellent. MRCP appears to be more effective and less invasive than endoscopic retrograde cholangiopancreatography (ERCP) to evaluate many pancreatic and biliary diseases as choledocholithiasis, malignant obstruction, incomplete or failed ERCP, postsurgical alterations of the biliary tract (as biliary-enteric anastomoses), sclerosing cholangitis, chronic pancreatitis, and congenital anomalies of the biliary and pancreatic duct. METHODS: MRCP was performed in 21 non selected patients with suspected choledocholithiasis and demonstrated the presence of stones in the biliary tract in 5 of them. In these 5 patients sequential endoscopic-laparoscopic treatment was performed and confirmed in all cases the presence of stones in the biliary tree. Laparoscopic cholecystectomy (VLC) and transcystic cholangiography was attempted in the restant 16 patients. RESULTS: Laparoscopic transcystic cholangiography confirmed in all cases the response of MRCP. CONCLUSIONS: MRCP has the potential to replace ERCP in the management of patients candidate to VLC with suspected choledocholithiasis.

Algorithms↗

[Diagnostic imaging of lobular carcinoma of the breast: mammographic, ultrasonographic and MR findings].

PURPOSE: To evaluate the most frequent mammographic, US and MR findings of invasive lobular carcinoma and the role of MRI in defining multifocality and/or multicentricity of this tumor histotype. MATERIAL AND METHODS: We studied 45 lobular carcinomas (39 patients) were selected from 421 breast cancers. Core biopsy with a 14 G needle was performed in 39 cases, under US guidance in 36/39 and under mammographic guidance in 3/39 cases. Surgical biopsy was performed in 2 cases and the diagnosis could be made only after mastectomy in 5 cases. All patients were examined with mammography and US and (10-13 MHz) and 8 also with MRI. RESULTS: 28/46 palpable lesions (60.9%). Core biopsy correctly diagnosed 38/39 lesions (97.4%). The most frequent mammographic findings was that of a nodular opacity without microcalcifications (34.8%), followed by a mass with spiculated borders (30.4%). Microcalcifications were seen in one case only (2.2%). Mammography detected no abnormalities in 15.2% of cases, but US showed a lesion in 2 of these cases. The most frequent US pattern was that of a hypoechoic lesion (43.5%), followed by posterior US beam attenuation. No US signs of abnormality were seen 15.2%. MRI correctly detected 13 lesions. Contrast enhancement was greater than 70% at one minute in 10 cases and greater than 40% in one case; two lesions exhibited atypical slow contrast enhancement, peaking at 5 minutes. MRI detected 5 lesions missed at both mammography and US and showed multifocal (3 and 2) lesions where the other techniques had detected one lesion only. DISCUSSION: At mammography and US invasive lobular carcinoma exhibits no different features than ductal carcinoma but is difficult to identify especially in its early stages. US is a useful tool especially to characterize mammography-detected lesions but in our experience it also demonstrated 2 lesions missed at mammography. MRI is a precious examination to define the multifocal, multicentric or bilateral character of invasive lobular carcinoma. CONCLUSIONS: Invasive lobular carcinoma of the breast is often very difficult to diagnose. Thus, we suggest the use of integrated diagnostic imaging with mammography, US and, in some cases, MRI for earlier diagnosis and to identify further tumor localizations.

Adult↗

Diagnostic accuracy of perforated compression grid approach for mammographically guided core needle biopsy of breast lesions.

The aim of this study was to evaluate the diagnostic accuracy of large core breast biopsy with the use of the perforated compression grid (PCG) in a series of 106 consecutive mammographically detected breast lesions. The PCG consists in a fenestrated paddle that replaces the usual mammographic compressor. Each hole in the grid is marked by letters and numbers in order to obtain the coordinates of the area to biopsy. By analysing the two orthogonal projections, the depth of the lesion in the breast is calculated. With the breast positioned in the PCG, a skin incision is made. After calculations about the depth of needle insertion, the tip of the needle is inserted proximally to the target area. In such a way, taking into consideration the total running of the needle (23 mm), a correct sampling is assured, and multiple needle passes are performed. Sensitivity was of 90.62 and 90.90%, specificity was of 100 and 95.45% and positive predictive value was of 100 and 90.90% by excluding and including suspicious diagnoses, respectively, for each computation. In conclusion, the study indicated that image-guided core biopsy performed by the approach of PCG is a cost-effective, simple and accurate technique for the diagnosis of breast lesions, and it could be proposed as a low-cost alternative where the stereotactic equipment is not available.

Adult↗

Combined yolk sac tumor and adenocarcinoma in a gastric stump: molecular evidence of clonality.

BACKGROUND: Extragonadal yolk sac tumors of the gastrointestinal tract are extremely rare neoplasms. Their greater rarity compared with other extragonadal yolk sac tumors suggests that different pathogenetic mechanisms could be involved according to the site of origin. This report describes a case of a combined yolk sac tumor and adenocarcinoma that arose in a gastric stump in a man age 61 years 43 years after he underwent distal gastric resection and gastrojejunostomy (Billroth II operation) for a benign duodenal ulcer. The coexistence of an adenocarcinomatous component with the yolk sac component suggests that the two histologic patterns may represent distinct phenotypes arising from a common mucosal epithelial cell. METHODS: Immunohistochemical and molecular techniques were used to define the mutation pattern of p53 in both components of the tumor. RESULTS: Single-strand conformation polymorphism and sequencing analyses demonstrated the same pattern of p53 mutation in the adenocarcinomatous and yolk sac tumor components. CONCLUSIONS: This finding suggests that the two tumors could have been derived from the same cellular clone and supports the hypothesis that the two components represented a heterogeneous differentiation of the same tumor.

Adenocarcinoma↗

Prognostic value of thyroid transcription factor-1 in primary, resected, non-small cell lung carcinoma.

Thyroid transcription factor-1 (TTF-1) is a 38-kDa nuclear protein expressed in thyroid follicular cells, in human fetal lung, and, after birth, in Type II epithelial cells of alveoli and in a subset of bronchial cells. Expression of TTF-1 was documented in neoplasms arising from cells that normally produce this transcription factor. In the present study, a series of surgically resected non-small cell lung carcinomas (NSCLCs) was evaluated for the expression of TTF-1 protein, and the correlation between TTF-1 expression and patient survival was retrospectively tested. Ninety-six patients with primary NSCLC underwent surgical resection between 1987 and 1992. All of the tissue specimens from these patients were examined for TTF-1 protein expression by immunohistochemical analysis. Tumor immunoreactivity for TTF-1 was categorized into three groups (-, +, and ++), according to the percentage of reactive cells. The relationship between TTF-1 expression and postsurgical survival was analyzed for 88 patients [60 squamous cell carcinomas (SCCs) and 28 adenocarcinomas (ACs)]. TTF-1 stain was always limited to nuclei. Of the 96 specimens of NSCLC, 59 (61%) were scored as -, 20 (21%) as +, and 17 (18%) as ++. TTF-1 expression was significantly higher in ACs than in SCCs (P < .0001). Survival curves among the -, +, and ++ groups were significantly different (log rank test, P = .04). Multivariate analysis showed that NSCLCs in the ++ group were associated with a poor prognosis (P = .009), independent of node (P = .01) or stage status (P = .0006). When subsets of patients with SCC and with AC were separately analyzed, TTF-1 was found to have an independent prognostic value only in patients with SCC (P = .04). The results of this study suggest that immunoreactivity for TTF-1 in NSCLC closely relates to clinical outcome, especially in patients with SCC.

Adenocarcinoma↗

[Atypical ductal hyperplasia of the breast. Its diagnostic imaging and the role of percutaneous needle biopsy with a 14-gauge needle].

PURPOSE: To investigate the yield of core biopsy in the histologic characterization of atypical ductal hyperplasia (ADH) and to assess the radiological patterns, if any, of this condition. MATERIAL AND METHODS: January 1993 to October 1997 we studied 553 lesions, 8 of them with a diagnosis of ADH made on microhistologic samples obtained with 14G needles. Biopsy was performed under US guidance in 81.7% of cases and under mammographic guidance in 18.3%. The breast lesions were studied with mammography, US and MRI, the latter in one case. ADH was diagnosed by strict application of Page's and lesion extent criteria. RESULTS: Seven of 8 lesions with a core biopsy diagnosis of ADH were submitted to surgical biopsy. The diagnosis was changed in as many as 6 of 8 cases, into typical ductal hyperplasia (1 case) and carcinoma (1 papilliferous, 3 ductal infiltrating and 1 in situ lesions). ADH was confirmed in one case only. DISCUSSION: In agreement with other authors, we found no specific radiological patterns of ADH. Moreover, the core biopsy diagnosis of ADH requires a surgical biopsy, because ADH is often associated with carcinoma. CONCLUSIONS: Surgical biopsy is needed to diagnose ADH and therefore it is useless to perform more invasive procedures than 14G core biopsy.

Biopsy, Needle↗

T-cell activity in HLA-associated autoimmune diseases.

BACKGROUND: The existence of T-helper-1 (Th1) and T-helper-2 (Th2) subsets has been implicated in the regulation of several immune responses, and alterations in the Th1/Th2 balance have been involved in autoimmunity. The present study investigates the relative influence of Th1 and Th2 patterns in autoimmune responses in patients with HLA-associated autoimmune diseases. METHODS: This study concerns 849 patients of both sexes, suffering from several autoimmune diseases. Tissue typing for HLA antigens of Class I (A, B, C) and Class II (DR, DQ) was carried out in all patients by conventional serologic methods, comparing results with frequencies detected in a normal population. Many immunological tests were also done. In particular, lymphocyte subsets (CD4+, CD8+, CD3-HLA-DR+, NK cells, sIg + B cells) were detected with monoclonal antibodies by a fluorescent cytometer. The changes in frequencies of T cell subsets were used to calculate the possible incidence of two effector phenotypes (TE-1; TE-2). RESULTS: The results of the immunogenetic analysis confirmed the significant HLA-associations in several diseases. The essential T-cell changes were also exposed, thus defining the incidence of T-cell phenotypes (TE-1 = 56.3%; TE-2 = 34.8%). This finding suggested a major impact of cell-mediated immunity, as compared with that of antibody-mediated immunity. CONCLUSIONS: The anomalies of Th1/Th2 balance can impact autoimmune disease, and in many cases a Th2 response can prevent Th1-mediated autoimmunity, which is the most evident phenomenon in several HLA-associated diseases.

Autoimmune Diseases↗

Cytotoxic effector function in HLA-associated autoimmune diseases.

BACKGROUND: The mechanisms by which cytotoxic-T-lymphocytes (CTLs) and natural killer (NK) cells recognize and kill target cells are the subject of intense research. Previous observations in patients with HLA-associated autoimmune diseases show a major impact of cell-mediated immunity as compared to antibody-mediated immunity. This study analyzes the possible co-operation of NK cells in the autoimmune process, comparing their increase to that of cytotoxic-T-lymphocytes. METHODS: This research examines the incidence of CD8+ T cells and NK cells increases in 1065 patients with various autoimmune diseases. Tissue typing for HLA antigens was carried out in all patients by conventional serologic methods. Lymphocyte subsets (CD4+, CD8+, CD3-HLA-DR+, NK cells, sIg+ B cells) were detected with monoclonal antibodies by a fluorescent cytometer. Results were statistically compared to normal control values by the Student's "t"-test. RESULTS: The analysis of results shows the incidence of CTLs and NK cell increases in patients with different autoimmune syndromes. In some diseases (uveitis, multiple sclerosis, and other neurological autoimmune disorders) raised frequencies of NK cell increase are most evident. These results suggest some possible relationships between CTLs and NK cells in the pathogenesis of the autoimmune process. CONCLUSIONS: The present results show that CTLs and NK cells are implicated in immune dysregulation, which characterizes the complex pathogenesis of autoimmune diseases.

Autoimmune Diseases↗

Immunogenetics of inflammatory bowel disease.

BACKGROUND: This study investigates the association of HLA antigens to inflammatory bowel disease (IBD), which is reminiscent of the simultaneous or subsequent presence of ulcerative colitis (UC) and Crohn's disease (CD) found in these patients, showing also the concomitant association of other autoimmune conditions. The aim of this study is to confirm the autoimmune origin of IBD and the immunogenetic basis of the disease. METHODS: The study concerns 18 consecutive patients of both sexes, aged 20 to 62 years, sharing the clinical criteria of IBD indicated by previous authors. Tissue typing for HLA antigens of Class I (A; B; C); and Class II (DR; DQ) was carried out by conventional serologic methods, comparing alleles frequencies with those of normal controls random selected by the chi-square test. The main immune functions and other laboratory tests were also done in all patients, to define the concomitant autoimmune condition. RESULTS: Immunogenetic analysis shows the significant increase in two HLA antigens: HLA-DR2 (50.0% vs 25.5% of controls); HLA-DR7 (44.4% vs 21.1% of controls). In particular, the association of HLA-DR7 to IBD is reminiscent of that found in a personal series of 54 patients with primary celiac disease (55.5% vs 21.1% of controls). The findings on immune functions show the high frequency of anomalies of cell-mediated immunity (62.5%) and humoral immunity (88.8%), associated with decrease in complement and increase in immune-complexes. These alterations were always correlated with the presence of HLA-DR2 and/or HLA-DR7. CONCLUSIONS: This study on immunogenetics of ibd does not separate UC and CD on genetic grounds, thus suggesting that common HLA Class II genes may predispose to an altered regulation of immunologic mechanisms in these disorders.

Journal Article↗

Image-guided core breast biopsy: a suitable method for preoperative biological characterization of small (pT1) breast carcinomas.

Multiple prognostic indicators, namely histological grade and immunostaining for estrogen (ER) and progesterone receptors (PgR), MIB 1, bc1-2, and p53, were retrospectively determined on preoperative core biopsies from 75 patients with pT 1 breast carcinoma. The association of the preoperatively evaluated factors with those on the corresponding resected tumors (i.e. nodal status, histological grade, presence or absence of vascular invasion and necrosis) was assessed. In univariate analysis, histological grade on resected tumors was significantly associated with histological grade on core biopsy, p53 expression, MIB1 immunostaining. An inverse association was found between postoperative histologic grade and ER, PgR, and bc1-2. Necrosis was significantly associated with grade, p53, MIB1, and inversely with ER, PgR, and bc1-2. Nodal involvement and vascular invasion were significantly associated with MIB1. In multivariate analysis, histological grade and ER were the only independent core biopsy variables associated with postoperative histological grade and necrosis, respectively. This study showed that image-guided core biopsy is a suitable method that can be used to reveal some characteristics of the tumor biology in a preoperative stage.

Aged↗

TTF-1 protein expression in pleural malignant mesotheliomas and adenocarcinomas of the lung.

TTF-1 is a tissue-specific transcription factor expressed in the epithelial cells of thyroid and lung. This study investigates the immunohistochemical expression of TTF-1 in pleural malignant mesotheliomas (MM) and adenocarcinomas (AC) of the lung, respectively. For this purpose, 33 biopsy specimens of pulmonary AC and 24 specimens of MM were studied. TTF-1 immunoreactivity was identified in 19 of 33 cases of AC (57.5%) and in none of the 24 cases of MM. Positivity for TTF-1 was 100% specific and 57.5% sensitive for lung AC. Alternatively, negativity for TTF-1 was 57.5% specific and 100% sensitive for MM. These results suggest that TTF-1 can be favourably added to the immunohistochemical diagnostic panel for distinction between AC of the lung involving the pleura and pleural MM.

Adenocarcinoma↗

Impact of hepatitis C virus infection on clinical features, quality of life and survival of patients with lymphoplasmacytoid lymphoma/immunocytoma.

BACKGROUND: The non-Hodgkin's lymphoma (NHL) subgroup most frequently associated with hepatitis C virus (HCV) infection is the lymphoplasmacytoid lymphoma/immunocytoma (Lp-Ic). We have assessed the impact of the infection on the clinical features, quality of life and survival of HCV+ve Lp-Ic patients as compared to its impact in HCV-ve patients. PATIENTS AND METHODS: Seventy patients with Lp-Ic consecutively observed over a six-year period were studied. Clinical, virological and histopathological features were recorded at diagnosis. Quality of life was assessed using a scoring system including disease-related symptoms, performance status, working ability, hospital admissions and therapies required. RESULTS: Eighteen patients (26%) with HCV infection were identified. Significant differences between those patients and the HCV-ve group included number of symptomatic patients, Hb levels, serum protein levels, entity of the IgM monoclonal component, number of patients with cryoglobulins and with organ (liver, kidney) involvement, and entity and pattern of bone marrow infiltration. Survival rates were similar (P = 0.8383), but the quality-of-life score was significantly worse for the HCV+ve patients (P = 0.002). All anti-HCV Ab+ve patients tested positive for HCV RNA; genotype 2ac was detected in a significant proportion of cases. CONCLUSIONS: This study confirms that HCV infection is present in about one-third of patients with Lp-Ic. HCV infection does not seem to affect the overall survival of patients with Lp-Ic, but it affects the clinical expression of the disease, so that the overall quality of life of HCV+ve patients is significantly worse.

Adult↗