Mario Mirisola

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RAS residues that are distant from the GDP binding site play a critical role in dissociation factor-stimulated release of GDP

The EMBO Journal, Aug 1, 1992

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Diet and Calorie Restriction

Springer eBooks, 2019

The diagnostic accuracy of <i>PIK3CA</i> mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis

Therapeutic Advances in Medical Oncology, 2022

Background: The circulating tumor DNA (ctDNA) diagnostic accuracy for detecting phosphatidylinosi... more Background: The circulating tumor DNA (ctDNA) diagnostic accuracy for detecting phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha ( PIK3CA) mutations in breast cancer (BC) is under discussion. We aimed to compare plasma and tissue PIK3CA alterations, encompassing factors that could affect the results. Methods: Two reviewers selected studies from different databases until December 2020. We considered BC patients with matched tumor tissue and plasma ctDNA. We performed meta-regression and subgroup analyses to explore sources of heterogeneity concerning tumor burden, diagnostic technique, sample size, sampling time, biological subtype, and hotspot mutation. Pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and the related area under the curve (AUC) were elaborated for the overall population and each subgroup. Results: The pooled analysis was carried out on 25 cohorts for a total of 1966 patients. The overall ctDNA sensitivity and specificity were 0.73 (95% CI: 0.70–0.77) and 0.87 (95% CI: 0.85–0.89). The AUC was 0.93. Pooled concordance, negative predictive value and positive predictive value values were 0.87 (95% CI: 0.82–0.92), 0.86 (95% CI: 0.81–0.90), and 0.89 (95% CI: 0.81–0.95) with pooled PLR, NLR, and DOR of 7.94 (95% CI: 4.90–12.86), 0.33 (95% CI: 0.25–0.45), and 33.41 (95% CI: 17.23–64.79), respectively. The pooled results consistently favored next-generation sequencing (NGS)- over polymerase chain reaction-based methodologies. The best ctDNA performance in terms of sensitivity, specificity, and AUC (0.85, 0.99, and 0.94, respectively) was observed in the low-time sampling subgroup (⩽18 days between tissue and plasma collection). Meta-regression and subgroup analyses highlighted sampling time as a possible major cause of heterogeneity. Conclusions: These findings reliably estimate the high ctDNA accuracy for the detection of PIK3CA mutations. A ctDNA-first approach for the assessment of PIK3CA mutational status by NGS may accurately replace tissue tumor sampling, representing the preferable strategy at diagnosis of metastatic BC in patients who present with visceral involvement and at least two metastatic lesions, primarily given low clinical compliance or inaccessible metastatic sites.

Sordità neurosensoriale non sindromica: genotipi della Cx26 (GJB2) in famiglie siciliane

The Diagnostic Accuracy of PIK3CA Mutations by circulating tumor DNA (ctDNA) in Breast Cancer: An Individual Patient Data Meta-analysis

Research Square (Research Square), Mar 21, 2022

Background The circulating tumor DNA (ctDNA) diagnostic accuracy for detecting Phosphatidylinosit... more Background The circulating tumor DNA (ctDNA) diagnostic accuracy for detecting Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) mutations in breast cancer is under discussion. We aimed to compare plasma and tissue PIK3CA alterations, encompassing factors that could affect the results. Methods Two reviewers selected studies from different databases until December 2020. We considered Breast cancer patients with matched tumor tissue and plasma ctDNA. We performed metaregression and subgroup analyses to explore sources of heterogeneity concerning tumor burden, diagnostic technique, sample size, sampling time, biological subtype, and hotspot mutation. Pooled sensitivity, speci city, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and the related area under the curve (AUC) were elaborated for the overall population and each subgroup. Results The pooled analysis was carried out on 25 cohorts for a total of 1966 patients. The overall ctDNA sensitivity and speci city were 0.73 (95% CI: 0.70-0.77) and 0.87 (95% CI: 0.85-0.89). The AUC was 0.93. Pooled concordance, negative predictive value (NPV) and positive predictive value (PPV) values were 0.87 (95%

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Body Mass Index (BMI) is not a cancer risk factor for BRCA1/2 carriers: a Systematic Review and Meta-analysis of case-control studies

Research Square (Research Square), Mar 19, 2021

Background Breast cancer susceptibility gene 1 and 2 (BRCA 1/2) pathogenic germline variants (gPV... more Background Breast cancer susceptibility gene 1 and 2 (BRCA 1/2) pathogenic germline variants (gPV) are involved in an increased cumulative risk for cancers (above all breast and ovarian cancers). Overweight/obesity is a well-known systemic condition conferring higher cancer risk too. Methods We performed a systematic review collecting data on Medline, Scopus, and Cochrane-Library database until August 2020. We included four case-control studies (Fu et al, Bissonauth et al, Khachatryan et al, Nkondjoc et al) assessing the risk for cancer according to different BMI strata in BRCA-positive healthy individuals. Results Four studies for a total of 1148 patients evaluated breast and ovarian cancer risk in a healthy BRCA1/2 population. No other tumor histotypes risk has been observed within the selected population. Pooled results demonstrated that different BMI conditions (lower or upper 25 kg/m 2) were not associated with increased cancer risk (OR 1.15, 95% CI 0.92-1.44 and OR 1.48, 95% CI 0.84-2.62 respectively). Additionally, no differences were reported according to menopausal status. Conclusion Despite the need for other prospective investigations in larger cohorts, our results suggest no BMI

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Parietaria pollen allergens

Allergy, Oct 1, 1998

Pollen allergens are multivalent proteins or glj'coproteins capable of inducing igE-mediated ... more Pollen allergens are multivalent proteins or glj'coproteins capable of inducing igE-mediated type 1 allergy in about 10-15% of the population of the industrialized countries (1). In those patients, the immune system causes a direct hypersensitivity reaction associated with a high concentration of circulating IgE and interleukin-4 (IL-4) and interleukin-5 (IL-5) cytokine production by allergen-specific Th2 cells. Parietaria is a genus of dicotyledonous weeds of the Urticaceae family, including several species widely distributed in the Mediterranean area (2); among them, Parietaria judaica (Pj) and P. officinalis {Po) pollens have been reported to be the most common cause of allergy in this area. In fact, an epidemiologic study of 1787 allergic patients in southern Italy showed that 50% were skin test positive to Pj pollen (3). Therefore, considering that approximately 180 million people of Europe, Asia, and Africa live in this area (4), we estimate that a mean number of 10 million people may be allergic to Parietaria pollen. Moreover, the Mediterranean is not the only region affected by Parietaria pollen atopic disease, since the presence of this weed and related IgE have also been described in the southern UK, Austria, temperate regions of central and eastern Europe, Australia, and California (5-7). Over the last 15 years, the Parietaria allergenic molecules have been analyzed by conventional biochemical methods (CIE, CRIE, HPLC, and Western blot) (8-12), and nine antigens of 10-80 kDa capable of binding human IgE were detected in Pj pollen extract. These probably account for all the important allergens present in the dialyzed Pj pollen solution, since rabbit anti-Py extract antibodies absorbed all the RAST-inhibitory capacity of the dialyzed Pj extract (13). This was further confirmed by gel fractionation-electroblotting methods. Among the nine Pj allergens, four were classified as major; in particular, an immunoblot analysis of 52 sera from Py-allergic patients showed that the fast-migrating components were recognized by most of the sera and that a large number of them recognized that area exclusively. In addition, SDS-PAGE anaiysis showed that the 10-14-kDa area separated into two very close bands, suggesting the presence of more than one component (14 15). Common antigenic determinants have been observed in pollen extracts of Pj and Po (16, 17).

Molecular analyses of NLGN3, NLGN4, GRPR genes in a Sicilian autistic population

Association between IGF‐1 levels ranges and all‐cause mortality: A meta‐analysis

Aging Cell, 2022

The association between IGF‐1 levels and mortality in humans is complex with low levels being ass... more The association between IGF‐1 levels and mortality in humans is complex with low levels being associated with both low and high mortality. The present meta‐analysis investigates this complex relationship between IGF‐1 and all‐cause mortality in prospective cohort studies. A systematic literature search was conducted in PubMed/MEDLINE, Scopus, and Cochrane Library up to September 2019. Published studies were eligible for the meta‐analysis if they had a prospective cohort design, a hazard ratio (HR) and 95% confidence interval (CI) for two or more categories of IGF‐1 and were conducted among adults. A random‐effects model with a restricted maximum likelihood heterogeneity variance estimator was used to find combined HRs for all‐cause mortality. Nineteen studies involving 30,876 participants were included. Meta‐analysis of the 19 eligible studies showed that with respect to the low IGF‐1 category, higher IGF‐1 was not associated with increased risk of all‐cause mortality (HR = 0.84, 95...

Nutrition and Cancer

Practical Medical Oncology Textbook, 2021

Identification of immunodominant IgE epitopes of the major house dust mite allergen Der f 24

International Journal of Molecular Medicine, 2019

Previously, a ubiquinol-cytochrome c reductase binding protein (UQCRB) homolog was identified in ... more Previously, a ubiquinol-cytochrome c reductase binding protein (UQCRB) homolog was identified in the house dust mite (HdM) species Dermatophagoides farinae (der f) as a major allergen. In the present study, the immunodominant immunoglobulin E (IgE) epitope of the protein der f 24 was investigated. Analysis of the homologous amino acid (aa) sequences in der f and human UQcRB was performed. Four different recombinant der f 24 and hybrid proteins formed by integrating der f and human UQcRB sequences were expressed in Escherichia coli, purified using Ni-NTA resins, and IgE-binding activity was determined using IgE-western blotting and enzyme-linked immunosorbent assay (ELISA) experiments. IgE epitopes were further identified by IgE-dot blotting and IgE-ELISA with synthetic polypeptides and HdM-allergic sera. Three-dimensional (3d) structural modeling was used to analyze the position of the immunodominant IgE epitope. The amino acid sequence homology between der f 24 and the human UQcRB protein was determined to be 39.34%. IgE-ELISA and western blot analysis showed that all of the der f-human UQcRB hybrid proteins generated, except for the one lacking 59 residues of the N-terminal region of der f 24, were bound by allergic serum IgE. A synthetic polypeptide consisting of 32 residues of the N-terminal reacted with IgEs from HdM-allergic sera and could be used to generate high titer specific IgG or specific IgE antibodies in immunized mice. The 32-aa N-terminal region of der f 24 was localized to a structural protrusion, which may facilitate specific IgE-binding. These results indicate that the immunodominant IgE epitope of der f 24 is located mainly in a 32-residue region of the N-terminus. These findings may inform the mechanisms of HdM allergy sensitization and allergy immunotherapy development.

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Absence of mutations R451C and D396ter (1186 INST) in the neuroligins nos. 3 and 4, genes, respectively, in 140 italian patients with autism spectrum disorder

… GENETICS. PART B, …, 2005

Citazione: ROMANO V, CALI'F, MIRISOLA M, GALLO A, ANGILERI L, D'ANNA RP, et al.(2005). ... more

Analisi molecolare di 3 geni (NLGN3, NLGN4, GRPR) localizzati sul cromosoma X in una popolazione autistica siciliana

Atti Simposio Neuroscienze …, 2004

ROMANO V, CALI' F, SEIDITA G, MIRISOLA M, D'ANNA R, GALLO A, et al. (2004). Analisi mol... more

Efficacy of a fasting‐mimicking diet in functional therapy for depression: A randomised controlled pilot trial

Journal of Clinical Psychology, 2020

ObjectiveThis randomized controlled trial examined the efficacy of adding a fasting‐mimicking die... more ObjectiveThis randomized controlled trial examined the efficacy of adding a fasting‐mimicking diet to a structured psychotherapy protocol for treating depression.DesignOf 20 patients with depression, 10 were randomly assigned to psychotherapy and dieting (i.e., experimental group) and the other 10 to psychotherapy only (i.e., control group). Patients in both groups received 20 individual sessions of functional therapy along with nutrition consultation. Patients in the control group were instructed to maintain their usual daily diets.ResultsBoth treatments were effective in reducing depression as well as increasing self‐esteem and quality of life. The experimental group showed improved self‐esteem and psychological quality of life as well as a reduction in their mean body mass index, in comparison to the control group.ConclusionsThe study revealed initial evidence of the efficacy of combining psychotherapy with a fasting‐mimicking diet to treat depression and its correlates.

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1818P Body mass index (BMI) is not a cancer risk factor for BRCA1/2 carriers: A systematic review and meta-analysis of case-control studies

Annals of Oncology, 2021

Background Breast cancer susceptibility gene 1 and 2 (BRCA 1/2) pathogenic germline variants (gPV... more Background Breast cancer susceptibility gene 1 and 2 (BRCA 1/2) pathogenic germline variants (gPV) are involved in an increased cumulative risk for cancers (above all breast and ovarian cancers). Overweight/obesity is a well-known systemic condition conferring higher cancer risk too. Methods We performed a systematic review collecting data on Medline, Scopus, and Cochrane-Library database until August 2020. We included four case-control studies (Fu et al, Bissonauth et al, Khachatryan et al, Nkondjoc et al) assessing the risk for cancer according to different BMI strata in BRCA-positive healthy individuals. Results Four studies for a total of 1148 patients evaluated breast and ovarian cancer risk in a healthy BRCA1/2 population. No other tumor histotypes risk has been observed within the selected population. Pooled results demonstrated that different BMI conditions (lower or upper 25 kg/m2) were not associated with increased cancer risk (OR 1.15, 95% CI 0.92–1.44 and OR 1.48, 95% CI 0.84–2.62 respectively). Additionally, no differences were reported according to menopausal status. Conclusion Despite the need for other prospective investigations in larger cohorts, our results suggest no BMI contribution in cancer risk in this special population, determining a new important point of view and a new potential field of investigation.

Longest common substrings, related problems and applications

If citing, it is advised that you check and use the publisher's definitive version for pagination... more If citing, it is advised that you check and use the publisher's definitive version for pagination, volume/issue, and date of publication details. And where the final published version is provided on the Research Portal, if citing you are again advised to check the publisher's website for any subsequent corrections.

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Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

Molecular Psychiatry, 2003

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mtDNA analysis of the human remains buried in the sarcophagus of Federico II

Journal of Cultural Heritage, 2005

The sarcophagus containing the remains of Federico II, located in the Cathedral of Palermo (Sicil... more The sarcophagus containing the remains of Federico II, located in the Cathedral of Palermo (Sicily, Italy), was opened on 1998 to perform a multidisciplinary survey [1]. Next to the remains of Federico II and in close contact with them were laying two other skeletons belonging, according to historical records, to Pietro II di Aragona and to an anonymous person ("The Third Individual"), probably a woman. The bones appeared severely deteriorated. Chemical analysis performed on bone samples excluded that the bodies underwent some kind of embalming process. The analysis of mtDNA from bone samples taken from the three skeletons was successful in only one of the two labs involved. The HVR1-mtDNA sequence (region: from nt 16,035 to nt 16,395), obtained from the bone samples of Federico II and "The Third Individual" appear identical but bear double peaks at the same nucleotide positions, suggesting mixing (i.e. contamination) of different mtDNA types. The HVR1 sequence obtained from the bone sample of Pietro II di Aragona does not present double peaks and differ from the Cambridge Reference Sequence (CRS) at six nucleotide positions. Cloning experiment of the Federico II amplicon demonstrated that the mixed mtDNA types are only two: one identical to CRS, the other identical to the sequence of Pietro II di Aragona. A reconstruction of these data are proposed in the Discussion. Due to the problematic context in which this study was carried out (mixed and deteriorated biological material, failure to replicate results in two different labs), our results and reconstruction can only be offered on a tentative basis. It is hoped that the data presented in this study will reveal useful, for future comparison, if further molecular genetics research will be carried out on the royal dynasties that ruled Sicily in the early centuries of the past millennium.

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Organometallic complexes with biological molecules: XVI. Endocrine disruption effects of tributyltin(IV)chloride on metamorphosis of the ascidian larva

Applied Organometallic Chemistry, 2001

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The IgE-binding epitopes of rPar j 2, a major allergen of Parietaria judaica pollen, are heterogeneously recognized among allergic subjects

Allergy, 2000

Pollen allergens are multivalent proteins that cross-link IgE antibodies on mast or basophil cell... more Pollen allergens are multivalent proteins that cross-link IgE antibodies on mast or basophil cells, inducing secretion of biologic mediators, and resulting in various allergic symptoms. The IgE-binding regions of the Parietaria judaica (Pj) pollen major allergen rPar j 2 were investigated. Twenty-nine single sera from Pj-allergic subjects were tested by Western blot against ®ve recombinant peptides. At least four putative IgE-binding epitopes were identi®ed. The analysis of their diffusion suggested a heterogeneous IgE-binding response. In fact, 75% of the sera reacted with peptide 1±54, 48% with peptide 48±101, 24% with peptide 1±30, 7% with peptide 29±54, and none with peptide 48±76. These ®ve peptides were analyzed with the histamine-release assay. Only peptide 48±101 was capable of inducing degranulation and release of histamine. These results suggest that the recombinant rPar j 2 allergen contains IgE epitopes that are heterogeneously recognized by sensitive patients, and that therefore the therapeutic approach based on the use of haptenic peptides needs a careful evaluation.

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