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Biomedical subjects

E Rossi

Publications and source records attributed to E Rossi.

At least 55 records · Page 3Linked to original sources
PubMed2001

Fludarabine in combination with cyclophosphamide or with cyclophosphamide plus mitoxantrone for relapsed or refractory low-grade non-Hodgkin's lymphoma.

BACKGROUND AND OBJECTIVES: We report the activity of two combinations of fludarabine (FLU), one with cyclophosphamide (FLU/CY) and the second with CY plus mitoxantrone (FLU/CY/MITO). The aim of the study was to evaluate the activity and toxicity of these two schedules in patients with non-Hodgkin's lymphoma (NHL). DESIGN AND METHODS: Twenty-two patients with recurrent low grade non-Hodgkin's lymphoma (LGL) received FLU/CY (FLU 25 mg/m(2) days 1 to 3, CY 300 mg/m(2) days 1 to 3), and 31 patients received FLU/CY/MITO (FLU 25 mg/m(2) days 1 to 3, CY 300 mg/m(2) days 1 to 3, mitoxantrone 10 mg/m(2) day 1). Patients received antibiotic oral prophylaxis during all treatments and growth factors (G-CSF) when grade III granulocytopenia (WHO scale) occurred. RESULTS: Of the 53 patients, 31 achieved complete remission (CR) (58%) and 16 partial remission (PR) (30%). Response was similar in both arms of the study. After 3 courses, 77% of patients who achieved CR showed a complete disappearance of disease. Seventy-nine per cent of patients experienced granulocytopenia. Few patients had fever, all without infection. One patient died with fever of unknown origin three months after completion of six courses of treatment. INTERPRETATION AND CONCLUSIONS: Both treatments were seen to be effective in recurrent low-grade NHL. Antibiotic prophylaxis with G-CSF support seems to reduce treatment-related infection.

Adult↗
PubMed2001

[The STF Project: Female Tumor Screening].

A pilot study has been carried out to evaluate women's compliance to a screening program for cervical cancer. The study, initiated in 1994, was performed in conjunction with the ACRO project of the CNR by the Italian National Health Institute, in collaboration with La Sapienza University of Rome and the National Institute for Cancer Research in Genoa. A preliminary telephone survey was carried out on a sample of 400 women (200 in Rome and 200 in Genoa) to assess, among other factors, their attitude towards the screening program. Afterwards, an ad hoc advertising campaign was launched and 21,827 women, randomly chosen from the register office's lists, were sent a personal invitation to participate in the screening. Most women showed interest in attending the screening program at the interview, but the percentages of participation were low (25.7% in Genoa and 27.3% in Rome). On the other hand, a high percentage of women who participated in the screening had already had a Pap test in the previous three years (Genoa, 73%; Rome, 76%). The recruiting techniques that were used in this study, and that are commonly used, do not seem to reach the core of the target population for cervical screening, i.e. women who have never had a Pap test or who had a Pap test more than 5 years earlier. New methods of recruiting aimed at categories at risk and based more on direct contacts need to be developed.

Adult↗
PubMed2001

[Personal experience with computerized tomography of shock and death in emergency situations].

PURPOSE: The wide availability of CT machines in hospitals specialising in emergency care has made it possible to observe CT features of severe shock and death of the patient during the CT examination. Unique radiological signs can be evaluated that testify to the state of shock or indicate arrest of the contrast medium in the cardiovascular system and parenchymatous organs, with different hemodynamic features from those found in living persons. This paper aims to report our personal experience with the role of CT in documenting states of shock or death. Our series, which is relatively large considering the infrequency of cases, seems to be of interest as it is one of the few to describe these rare CT findings, which have ethical implications for all healthcare providers and the field of diagnostic imaging. MATERIAL AND METHODS: In the last 5 years we have observed 16 cases (12 males and 4 females; mean age 41 years; range 17-79) of death during CT examinations. Of these, 9 were severely polytraumatized patients, 2 had ruptured aneurysms of the abdominal aorta, and one had a cardiac arrest due to cardiac infarction. Death occurred in 3 patients with head trauma, in whom the CT examination had shown signs of inoperability. RESULTS: The most frequent CT signs of death observed in the patients who died of polytrauma were contusive-hemorrhagic foci in the lung associated with pneumomediastinum and hemothorax (9 cases), diffuse subcutaneous emphysema of the chest wall and pneumothorax (8 cases). CT revealed bilateral costal fractures and areas of pulmonary subatelectasia in 8 cases, and rupture of the diaphragm in one. Multiple lacerations of the liver and spleen with marked hemoperitoneum, incompatible with survival, were observed in 3 cases. Vertebral traumatic alterations were present in 2 cases. In 5 cases, the last CT scans of the heart and hepatic cupula revealed massive enhancement of contrast medium within the heart and great vessels due to contrast-medium hypostasis. The diaphragm was hypotonic, an indirect sign of death, with the left hemicardium and hemidiaphragm in a lower position than found in living persons; the abdominal aorta had a reduced caliber. DISCUSSION AND CONCLUSIONS: Such CT findings will probably become increasingly frequent in the future, because the need to avoid exploratory laparotomies or thoracotomies and unnecessary neurosurgical procedures will entail a greater demand for highly selective diagnostic examinations to be carried out on critical patients. This tendency is matched by the technological advances in diagnostic imaging, and particularly the availability of fast CT and spiral CT machines that give, in only a few seconds, an accurate diagnostic and clinical picture, on which immediate therapeutic decisions can be made.

Adolescent↗
PubMed2000

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

BACKGROUND: Cytogenetic evidence suggests that the haploinsufficiency of > or =1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect-critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs. METHODS AND RESULTS: We studied 12 patients (7 had CHD and 5 did not) with distal 8p deletions from 9 families by defining their chromosome rearrangements at the molecular level by fluorescent in situ hybridization and short-tandem repeat analysis. Subjects with 8p deletions distal to D8S1706, at approximately 10 cM from the 8p telomere, did not have CHD, whereas subjects with a deletion that included the more proximal region suffered from the spectrum of heart defects reported in patients with 8p distal deletions. The 5-cM critical region is flanked distally by D8S1706 and WI-8327, both at approximately 10 cM, and proximally by D8S1825, at 15 cM. Neither GATA4 nor angiopoietin-2 (ANGPT2; a gene in 8p23 involved in blood vessel formation) were found to be deleted in some of the critical patients. We also found that CHDs are not related to the parental origin of deletion. CONCLUSIONS: Haploinsufficiency for a gene between WI-8327 and D8S1825 is critical for heart development. A causal relationship does not seem to exist between GATA4 and ANGPT2 haploinsufficiency and CHDs.

Adolescent↗
PubMed2000

Apoptosis or plasma cell differentiation of CD38-positive B-chronic lymphocytic leukemia cells induced by cross-linking of surface IgM or IgD.

Previously, we demonstrated that B-chronic lymphocytic leukemia (B-CLL) cells could be divided into 2 groups depending on the expression of CD38 by the malignant cells. The 2 groups differed in their signal-transducing capacities initiated by cross-linking of surface IgM; only in CD38-positive cells was an efficient signal delivered, invariably resulting in cell apoptosis. In this study, we investigated the effect of surface IgD cross-linking in 10 patients with CD38-positive B-CLL. Exposure of the malignant cells to goat antihuman delta-chain antibodies (Gadelta-ab) caused [Ca(++)]i mobilization and tyrosine kinase phosphorylation in a manner not different from that observed after goat antihuman mu-chain antibody (Gamu-ab) treatment in vitro. However, Gadelta-ab-treated cells failed to undergo apoptosis and instead displayed prolonged survival in culture and differentiated into plasma cells when rIL2 was concomitantly present. Cross-linking of surface IgD failed to induce proliferation of the malignant cells in vitro. Moreover, treatment with Gadelta-ab did not prevent apoptosis of B-CLL cells induced by Gamu-ab. Collectively, these experiments demonstrated that IgM and IgD expressed by the same cell may deliver opposite signals under particular circumstances and provide some clues for the understanding of the pathophysiology of B-CLL. (Blood. 2000;95:1199-1206)

ADP-ribosyl Cyclase↗
PubMed2000

Urinary eosinophil protein X and serum eosinophil cationic protein in infants and young children with atopic dermatitis: correlation with disease activity.

BACKGROUND: Eosinophil cationic protein (ECP) and eosinophil protein X (EPX) or eosinophil-derived neurotoxin (EDN) are released by eosinophil granulocytes in allergic diseases. Serum ECP (s-ECP) levels have been correlated with disease activity in atopic dermatitis (AD) in adults and young patients, and high urinary EPX (u-EPX) levels in asthmatic patients seem to reflect active disease. A relationship between AD severity and u-EPX concentration in young children has not been previously studied. OBJECTIVE: This study was performed to evaluate whether the severity of AD in infants and young children was correlated with s-ECP and u-EPX levels. METHODS: Fifty-four infants and children (mean age, 17.7 months; range, 4-48 months) with AD and without other allergic conditions were evaluated. The severity of AD was measured by using the SCORAD index. S-ECP, serum total IgE, serum-specific IgE for common allergens, and peripheral blood eosinophil counts (PBECs) were determined. In forty-two children u-EPX was also measured. Seven age-matched control patients underwent the same determinations. RESULTS: S-ECP and u-EPX were significantly higher in children with AD than in control children (mean, 23.9 vs 3.5 microg/dL [P <.001] and 57.7 vs 6.0 microg/mmol creatinine [P <.001]). A significant correlation was found between SCORAD and s-ECP (P =.002), u-EPX (P =.01), and PBECs (P =.01) and between symptom index and uEPX (P =.0004). PBECs were strongly correlated to s-ECP and u-EPX (P <.0001). However, 5 patients with moderate and severe AD (11.9%) showed low levels of s-ECP, u-EPX, and PBECs. CONCLUSION: S-ECP and u-EPX were useful markers of AD activity in infants and young children. When taken together, the two determinations could give more information about the clinical course of the illness. Some patients seemed to have clinical exacerbations without an involvement of eosinophils and their products.

Blood Proteins↗
PubMed2000

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency..

We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent-1 segregation of a t(2;7)pat. The chromosomal abnormality was diagnosed prenatally after sonographic detection of HPE in the fetus. The baby was born at 37 weeks gestation, and died in the newborn period; he had dysmorphic features consistent with HPE sequence. Postmortem internal evaluation showed semilobar HPE, abdominal situs ambiguus, multiple segments of bowel atresia, dilatation of the ureters, and bony sacral anomalies. Molecular analysis confirmed hemizygosity for the SHH and HLXB9 genes, which are likely to be responsible for the HPE and sacral phenotypes, respectively. Immunohistochemical studies showed intact dopaminergic pathways in the mesencephalon, suggesting that midbrain dopamine neuron induction appears to require only one functioning SHH allele.

Abdomen↗
PubMed2000

Alpha-interferon as induction and maintenance therapy in hairy cell leukemia: a long-term follow-up analysis.

Although in recent years the use of purine analogues has increased the percentage of long-term complete response the effect on overall survival of patients with hairy cell leukemia (HCL) is not yet clear. This study aimed to evaluate the long-term outcome (mean follow up of 92 months) of 64 patients receiving IFN as first-line therapy. IFN was well tolerated and effective. The overall response rate was 91% (PR 65%, CR 13%, GPR 13%). Forty-one patients (63%) received IFN 3 MU/ wk as maintenance therapy. The 10-yr projected survival rate of responding patients (CR and GPR 100%; PR 95%) and non-responders (SD, PD 80%) clearly shows that type of response does not affect survival. Patients receiving IFN maintenance had a statistically higher PFS than those who did not (p <0.01). This study shows that IFN is still one of the standard therapies for this disease, that achieving CR has no primary relevance for the control of the disease, and that good utilization of therapeutic resources may assure HCL patients a survival rate comparable to that of a normal, healthy population.

Adult↗
PubMed2000

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.

We studied the case of a subject with an inverted duplication of 40 cM of 2q33-q37 concurrent with a 10 cM deletion of the distal 2q, the latter not being detectable by cytogenetics. Microsatellite analysis demonstrated the absence of maternal alleles in the deleted region and a double dosage for one of the maternal alleles in the duplication region. We hypothesised that this type of rearrangement occurs at meiosis I, while the two homologues are synapsed for most of their length. The presence of inverted duplicons in the same chromosome arm would favour the partial refolding of one homologue into itself so leading to the intrachromatid synapsis and recombination of the inverted repeats. The arising recombinant chromosome is deleted for the region beyond the most distal repeat and with the chromatids joined together at the level of the region located between the two duplicons. At meiosis II, the two linked chromatids can join the opposite poles provided that a breakage between the two centromeres occurs leading to a duplicated/deleted chromosome and a simply deleted chromosome. This model can be extended to all the so-called inverted duplication cases and to part of the terminal deletions. In fact the finding that, in our invdup(2q), the entire 40 cM duplication region involves only one of the two maternal alleles, indeed indicates that the abnormal crossover occurs between sister chromatids. The phenotype associated with our 2q rearrangement led us to narrow the critical region for the Albright-like syndrome to 10 cM in the subterminal 2q region.

Child↗
PubMed2000

Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group.

The aetiopathogenesis of Langerhans cell histiocytosis (LCH) is still undefined. Constitutional abnormalities in LCH have rarely been reported. One study showed chromosomal instability in lesional cells from three patients. No chromosomal studies are available on peripheral blood lymphocytes. Peripheral blood lymphocytes were analysed for the presence of chromatid and/or chromosomal breaks and structural rearrangements. A fluorescence in situ hybridization (FISH) painting technique was also applied in two cases. Sixteen patients with multisystem (MS, n = 11) or single system (SS, n = 5) LCH were studied. either at the diagnosis (n = 8), during treatment (n = 2) or during follow-up, when asymptomatic (n = 6). Thirteen patients had chromosomal abnormalities. Eleven patients (69%) had chromatid and chromosomal breaks in 7-45% of cells. Overall, chromosome and chromatid breaks were significantly more frequent in the 11 patients with MS disease than in the five patients with SS disease: the mean percentage of cells showing chromosome and chromatid breaks was 13.4% in MS patients vs. 6.2% in SS patients (P = 0.003). Chromosomal abnormalities may be found in phytohaemagglutinin (PHA)-stimulated peripheral blood lymphocytes of LCH patients at diagnosis, during the disease course and even during long-term follow-up, more frequently in MS disease. Chromosome instability may be considered as either a basic genetic instability or as a landmark of reaction to an environmental agent (viral?) that, through genome alteration, may play a role in histiocyte proliferation and, in some cases, also in the increased risk of malignancy.

Adult↗
PubMed2000

Interaction between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism.

Hyperhomocysteinemia is an established risk factor for deep vein thrombosis. Factor V Leiden has been reported to potentiate the thrombotic risk related with severe hyperhomocysteinemia, being more represented in thrombotic patients with homocystinuria as compared with patients without a history of thrombosis. The results concerning the interaction between moderate hyperhomocysteinemia and inherited thrombophilic factors such as Factor V Leiden or the prothrombin G20210A mutation are contradictory. The relative risk for venous thrombosis has been reported to be increased 10- to 50-fold in patients carrying both hyperhomocysteinemia and inherited thrombophilia in comparison with normal controls, suggesting a synergistic interaction, yet other studies failed to confirm such conclusion. The heterogeneity of these findings is in part due to the small number of individuals with double defects, leading to statistically unreliable results. Genotyping for mutations that are possible causes of moderate hyperhomocysteinemia, such as the thermolabile variant (C677T) of methylenetetrahydrofolate reductase (MTHFR), does not seem useful to identify individuals at higher risk for venous thromboembolism. In fact, in most of the studies the presence of the C677T MTHFR homozygous genotype does not increase the thrombotic risk associated with Factor V Leiden or the prothrombin mutation.

3' Untranslated Regions↗
PubMed2000

Fertility and obstetric outcome after laparoscopic myomectomy of large myomata: a randomized comparison with abdominal myomectomy.

The purpose of this study was to compare, in infertile patients, the efficacy of laparoscopic myomectomy versus abdominal myomectomy, in restoring fertility and to evaluate the obstetric outcomes. Between January 1993 and January 1998, 131 patients of reproductive age, with anamnesis of infertility, underwent myomectomy because of the presence of at least one large myoma (diameter greater than or = 5 cm). Patients were randomly selected for treatment by laparotomy (n = 65) or laparoscopy (n = 66). The two groups were homogeneous for number, size and position of large myomata. Significant differences were found in the post-operative outcome: febrile morbidity (> 38 degrees C) was more frequent in the abdominal than in the laparoscopic group (26.2 versus 12.1%; P < 0.05). Laparotomy caused a more pronounced haemoglobin drop (2.17 +/- 1.57 versus 1.33 +/- 1.23; P < 0.001); three patients received a blood transfusion after laparotomy and none after laparoscopy. The post-operative hospital stay was shorter in the laparoscopic group (142.80 +/- 34.60 versus 75.61 +/- 37.09 h; P < 0.001). No significant differences were found between the two groups as concerns pregnancy rate (55.9% after laparotomy, 53.6% after laparoscopy), abortion rate (12.1 versus 20%), preterm delivery (7.4 versus 5%) and the use of Caesarean section (77.8 versus 65%). No case of uterine rupture during pregnancy or labour was observed.

Abortion, Spontaneous↗
PubMed2000

Serum ferritin and C282Y mutation of the hemochromatosis gene as predictors of asymptomatic carotid atherosclerosis in a community population.

BACKGROUND AND PURPOSE: Serum ferritin and heterozygosity for the C282Y mutation of the hemochromatosis gene have both been associated with an increased risk of cardiovascular events. The purpose of the study was to test whether either is a risk predictor for asymptomatic carotid atherosclerosis. METHODS: We assessed carotid intima-media wall thickness (IMT) and focal plaque formation by high-resolution B-mode ultrasound, conventional risk factors, serum ferritin levels, and the C282Y mutation of the hemochromatosis gene in a randomly selected community population of 1098 subjects (545 women and 553 men) aged 27 to 77 years. RESULTS: After adjustment for conventional risk factors, serum ferritin was not associated with carotid mean IMT. Women with ferritin values over the first quartile (>34 microg/L) had an adjusted odds ratio of 2.1 (95% CI, 1. 3 to 3.4; P:=0.0016) for carotid plaque compared with the first quartile. Ferritin was not associated with carotid plaque in men. Subjects who were heterozygous for the C282Y mutation constituted 11. 4% of the population, and there was no independent association of this genotype with either carotid IMT or focal plaque formation. CONCLUSIONS: We conclude that in our community population, C282Y genotype status was not a risk predictor for either carotid mean IMT or plaque formation. Serum ferritin values in women were independently associated with carotid plaque.

Adult↗
PubMed2000

Evaluation of cardiac abnormalities and embolic sources in primary antiphospholipid syndrome by transesophageal echocardiography.

OBJECTIVE: Valvular lesions are frequently present in Primary Antiphospholipid Syndrome (PAPS) patients using transthoracic and/or transesophageal echocardiography. The aim of this study was to describe the prevalence of cardiac abnormalities (valvular thickening and/or regurgitation) or potential embolic sources (spontaneous echocontrast and/or vegetations) in PAPS patients. METHODS: Multiplane transesophageal echocardiography was performed consecutively on 40 PAPS PATIENTS: 17 of them with thrombocytopenia, 27 with at least one thromboembolic event (stroke, transient ischaemic attack, arterial and/or venous thrombosis, pulmonary embolism) and 14 with recurrent fetal loss. DESIGN: Cardiac involvement (cardiac abnormalities and/or embolic sources) was present in 33/40 (82%) of PAPS patients. According to aCL titer these lesions were revealed in 17/24 (71%) of patients with aCL < or = 40 GPL-U, while these lesions were present in 100% of patients with aCL > 40 GPL-U. Three patients presented mitral stenosis and 3 non-infective valve masses or vegetations. Embolic sources were found in 4/24 (17%) patients with aCL < or = 40 GPL-U, while they were observed in 6/16 (37%) of patients with titer of aCL > 40 GPL-U (chi2 = 10.03, P < 0.01). Regression analysis showed a positive correlation between mitral valve thickening and aCL antibodies titer (r = 0.5; P < 0.001). CONCLUSIONS: Valvular lesions are commonly found in PAPS patients. Our data showed a significant correlation among aCL titer, mitral leaflets thickening and thromboembolic events.

Adult↗