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Biomedical subjects

M Bartolini

Publications and source records attributed to M Bartolini.

14 recordsLinked to original sources
PubMed2026

The role of circulating tumor DNA (ctDNA) to detect minimal residual disease in locally advanced gastroesophageal carcinoma: the BUTTERFLY study.

BACKGROUND: Despite advances in perioperative and neoadjuvant strategies, patients with locally advanced gastroesophageal cancers remain at high risk of recurrence after curative intent treatment. No validated biomarkers are available to detect minimal residual disease (MRD) or to guide post-operative risk-adapted management. Circulating tumor DNA (ctDNA) has emerged as a noninvasive tool for disease monitoring; single-parameter or tumor-informed assays, however, may lack sensitivity in low-tumor burden settings. Multimodal, tumor-agnostic approaches may overcome these limitations. METHODS: The BUTTERFLY study is a prospective, multicenter observational study enrolling patients with stage II-III gastric, gastroesophageal junction, or esophageal cancer treated with perioperative chemotherapy or neoadjuvant chemoradiotherapy followed by surgery. It evaluates the diagnostic performance and prognostic value of an academic, tumor-agnostic, multimodal ctDNA assay for MRD detection and prognostic stratification. Serial plasma samples are collected from baseline through post-operative follow-up and at relapse. Cell-free DNA is analyzed using the Agnostic Liquid Biopsy Multimodal Advancement (ALMA) platform, integrating tumor fraction estimation, somatic copy number alterations, fragmentomic features, single-nucleotide variants, and whole-genome methylation profiling. Multimodal features are combined with clinical variables using machine learning-based models to enhance MRD detection and relapse risk stratification. The primary endpoint includes sensitivity and specificity of ALMA-defined ctDNA/MRD status at the 4-8 weeks after surgery landmark, whereas secondary endpoints assess diagnostic performance at other time points and associations between ctDNA status and dynamics with disease-free survival, overall survival, treatment response, and lead time to recurrence. FUTURE PERSPECTIVES: If validated, this tumor-agnostic, multimodal ctDNA approach may enable earlier molecular relapse detection and support personalized post-operative management strategies.

circulating tumor DNA (ctDNA)↗
PubMed1993

Cognitive behavior in asymptomatic (CDC stage II and III) HIV--seropositive intravenous drug users (IVDUs).

To evaluate cognitive impairment in the early stages of HIV infection in intravenous drug users (IVDUs) we have studied 39 consecutive HIV-infected subjects (CDC stage II-III) whose only known risk factor for the infection was intravenous heroin addiction. The control group was represented by 30 seronegative IVDUs. All subjects were tested with an extensive neuropsychological battery assessing general intellectual abilities and single cognitive functions. The patients differed from controls only for tests of attention and visual-motor abilities: 20% of asymptomatic seronegative and PGL patients showed alterations in two or more cognitive tests, as opposed to 3% of controls (p < 0.001). Our findings suggest that cognitive deficits seem to be present in a substantial percentage of IVDUs with asymptomatic HIV infection. Cognitive damage at this stage seems to selectively involve attention and visual-motor abilities, sparing general intellectual performances.

Adult↗
PubMed1990

[Ultrasonography in the diagnosis of chronic inflammatory intestinal disease].

The accuracy of ultrasonography (US) in diagnosing active inflammatory bowel disease (IBD) is assessed on the basis of a randomized prospective study of 61 patients. Twenty-six of the patients were affected with Crohn's disease (CD) and 12 with ulcerative colitis, while the remaining 23 patients were control subjects with no specific chronic IBD. The US signs considered as significant for active CD and UC were: --visualization of a typical target image, that is a hyperechoic center corresponding to luminal bowel content, surrounded by a hypoechoic ring corresponding to loop walls; --at least 2 of the following: solid abdominal mass, distended loops, luminal narrowing, reduced peristalsis, stiff loops, and accumulation of fluid between the loops. US sensitivity and specificity for CD were 77% and 95.6%, respectively. As for UC, no significant results were obtained. In our experience, US is a reliable method for detecting alterations and, especially, complications typical of CD in its active phase. Considering the young age of the patients affected with CD and the number of exams they must undergo, US is considered as a useful tool in disease follow-up.

Adult↗
PubMed1990

Histological analysis of intraepidermal proliferations of atypical melanocytes.

Fifty cutaneous pigmented lesions characterized by an intraepidermal proliferation of atypical melanocytes were reviewed. Several histological parameters (position of melanocytes in the epidermis, nuclear melanocytic atypia, presence or absence of pagetoid melanocytes, nucleoli, and others) were evaluated. On the basis of the results, the investigated cases were classified into three groups. In group 1, pagetoid melanocytes were present, melanocytic atypia was severe and continuous, all epidermal layers were involved by melanocytic proliferation, and a pattern of epidermal infiltration was recognized. In group 2, pagetoid melanocytes were absent, melanocytic atypia was mild-moderate and discontinuous, the lower epidermis only was involved by melanocytic proliferation, and a pattern of epidermal pseudoinfiltration was recognized. Group 3 cases were in an intermediate area between the two major groups. The results showed that intraepidermal proliferations of atypical melanocytes lie on one line, in which groups 1 and 2 account for the extremes.

Cell Division↗
PubMed1984

Early deaths in acute lymphoblastic leukemia (ALL): results of the Italian Pediatric Cooperative Group for Therapy of Acute Leukemia (AIL-AIEOP).

In this retrospective multicentric study, we report on early deaths (ie, those that occurred during the first month of treatment) in a total of 943 newly diagnosed ALL pediatric patients registered from 1976 to 1981 at 21 centers of the AIL- AIEOP . Objectives of this study were as follows: (1) to verify the incidence and the cause of early death in a wide population of children with ALL and (2) to elucidate factors associated with early death and therefore to identify "high-risk" groups of patients. Out of the 943 ALL patients, 39 (4.1%) early deaths were registered. Main causes were infection, 20 patients (51.3%); hemorrhage, 11 patients (28.3%); uric acid nephropathy, 2 patients (5.1%); cardiac failure, 3 patients (7.6%); syndrome of inappropriate antidiuretic hormone secretion, 1 patient. Two patients died during the first week of unknown cause. Thirteen factors measured at diagnosis and possibly influencing the early death rate were analyzed. Using the chi-square test, only three of these factors (age, mediastinum status, surface markers) appear to have any significant influence on the early death rate. We also tried to determine how therapy influences this process by analyzing variations in the early death rate, other factors being equal. Significant differences in the early death rates were encountered in AIEOP protocols using different induction regimens.

Adolescent↗
PubMed1979

T-cell nature of leukaemic cells in a case of Sézary's syndrome with 'null-cell' features.

alpha-naphthyl acetate esterase (ANAE) activity has been investigated in leukaemic cells from peripheral blood in a typical small-cell Sézary syndrome (SS) case in which cerebriform mononuclear cells failed to form E rosettes. The 'dot-like' ANAE positivity found in the majority of these neoplastic cells strongly supports a T-cell origin. In addition, a non-monocytic, non-B-cell nature of Sézary cells is indicated by the lack of Ia-like antigens. Finally, there is evidence of a distinct portion of Sézary cells simultaneously expressing ANAE activity and Fc IgM receptors.

Esterases↗
PubMedDate not supplied

[Neuroblastoma at the Giannina Gaslini Institute. Analysis of 94 cases diagnosed 1972-1981].

The authors have analysed 94 consecutive previously untreated children affected by NB diagnosed at the Giannina Gaslini Children's Hospital in the period January 1972 - December 1981. Age at diagnosis ranged between 1 month - 16 years (median 2 years). Diagnosis was made on histological grounds in 82 cases, on clinical, instrumental and laboratory data in the remaining 12 cases. Evans' staging system was adopted for classifying the disease extent. Patient recruitment was 9.4 cases for year. Female sex slightly prevailed in our series. 17 patients had localized disease (stage I and II), all surviving since 27 - 90 months. 28 children had regional disease (stage III) half of whom are presently alive. Five of the 47 cases with disseminated disease are alive at the time of this study; only one of these 5 can be considered cured, having been followed since more than 4 years. One of the two IV-s stage children survives disease-free at 89 months. 49% of patients were 2-year old or less at diagnosis while only 2 patients were older than 10. Survival was best in children diagnosed under one year of age, lowest in the 2 - 6 year age group. 74% of patients had their primary located in the abdomen (36 in the adrenal, 16 in sympathetic ganglia, 18 in un unidentifable site). Prognosis was worse in these patients compared with those with primary in the thorax, neck and pelvis. The clinical presentation of the disease has been extremely various: most patients had a diagnosis different from the definitive one, and were accordingly treated usually for several weeks or even months. Among laboratory data, urinary catecholamine metabolites, serum LDH and serum ferritin represented the most suitable indices of disease activity. Among immunological studies, none has shown a good correlation with the extent of the disease, nor with the clinical course. Stage I children had only surgery as treatment, while in stage II surgical ablation was followed by short-lasting chemotherapy and radiotherapy in few cases. In stage III and IV more complex multidisciplinary approach was utilized in the attempt to achieve a complete tumor regression. While about a half stage III cases appears curable by these treatment modalities, little impact has been demonstrated by this therapy in widespread disease, although the use of well-designed protocols seems have improved the complete remission rate and the median length of survival.

Adolescent↗
PubMedDate not supplied

[Renal changes in acute leukemia in children at onset. Incidence and prognostic value].

Microscopic leukemia infiltration of kidneys is a common autoptic finding in children for ALL before starting specific treatment. However, a palpable renal enlargement is uncommon. The authors have performed an intravenous pyelogram (IVP) in 139 pediatric cases of acute leukemia, 117 of whom ALL, the remaining 22 ANLL. ALL patients were divided in 3 groups; Group 1 was made of 18 children treated with IGG-74 protocol, independently by any prognostic factor; Group 2 included 46 patients presenting one or more negative factors; Group 3 was of 53 cases with no unfavourable factor. Abnormal IVP was found in 4/18 (22,2%) Group 1, 9/46 (19,5%) Group 2, 2/53 (3,8%) Group 3 ALL patients. The most common anomaly was a bilateral renal enlargement with normal or slightly compromised renal function. Only 3 out of 117 ALL children had palpable renal masses. All 15 children acquired CR within one month from starting therapy together with normalization of IVP. Six out of 15 of these cases died, one is alive with disease, 8 are alive in CR. Except for two cases, all presented other negative prognostic factor associated with abnormal IVP. One of 22 ANLL children had an abnormal IVP: only one kidney was involved with the unique mechanism of intraparenchimal hemorrhage and hydronephrosis due to the filling of renal pelvis and ureter by multiple coarse cloths. In conclusions, major renal alterations are present in about 10% of ALL children, rarely in ANLL. This finding is commonly associated with unfavorable prognostic factors.

Acute Disease↗