410 research outputs found

    Bilateral Cavitations of Ganglionic Eminence: A Fetal MR Imaging Sign of Halted Brain Development

    Get PDF
    SUMMARY: Ganglionic eminence is the main transitory proliferative structure of the ventral telencephalon in human fetal brain and it contributes for at least 35% to the population of cortical interneurons; however data on the human GE anomalies are scarce. We report 5 fetal MR imaging observations with bilateral symmetric cavitations in their GE regions resembling an inverted open C shape and separating the GE itself form the deeper parenchyma. Imaging, neuropathology, and follow-up features suggested a malformative origin. All cases had in common characteristics of lissencephaly with agenesis or severe hypoplasia of corpus callosum of probable different genetic basis. From our preliminary observation, it seems that GE cavitations are part of conditions which are also accompanied by severe cerebral structure derangement

    Joint modelling of bivariate longitudinal data : Application to the recovery of sexual function and urinary continence

    Get PDF
    (E0871) The following methodological issues occur in the context of the longitudinal study of sexual dysfunction and urinary incontinence after radical prostatectomy: (i) high dropout rate due to the extremely sensitive nature of the investigated outcomes; (ii) correlation between the two outcomes; (iii) non-linearity of the recovery trajectories. To address all these issues, we propose the use of a joint modelling approach, including a bivariate linear mixed model with splines for the two outcomes and a proportional hazards model for the time to dropout. We applied the model to data from consecutive patients underwent robotic-assisted radical prostatectomy at European institute of oncology from May 2015 to July 2016. Preand post-surgical sexual and urinary functional conditions were evaluated using the expanded prostate cancer index composite questionnaire. Six hundred forty three patients were included in the analysis. At one year after surgery, only 55% of patients returned the questionnaire. Parameters estimation was based on the maximisation of the likelihood function achieved through the implementation of an EM algorithm. A Gauss Hermite approximation was also used for some of the integrals involved. To assess the effect of nonrandom dropout mechanisms on the parameter estimates, we calculated the index of local sensitivity to non-ignorability

    Radiological Features of Male Breast Neoplasms: How to Improve the Management of a Rare Disease

    Get PDF
    The primary aim of our study was to assess the main mammographic and ultrasonographic features of invasive male breast malignancies. The secondary aim was to evaluate whether a specific radiological presentation would be associated with a worse receptor profile. Radiological images (mammography and/or ultrasound) of all patients who underwent surgery for male invasive breast cancer in our institution between 2008 and 2023 were retrospectively analyzed by two breast radiologists in consensus. All significant features of radiological presentation known in the literature were re-evaluated. Fifty-six patients were selected. The mean age at surgery of patients was 69 years (range: 35-81); in 82% of cases (46 patients), the histologic outcome was invasive ductal carcinoma. A total of 28 out of 56 (50%) patients had preoperative mammography; in 9/28 cases (32%), we found a mass with microcalcifications on mammography. The mass presented high density in 25 out of 28 patients (89%); the mass showed irregular margins in 15/28 (54%) cases. A total of 46 out of 56 patients had preoperative ultrasounds. The lesion showed a solid mass in 41/46 (89%) cases. In 5/46 patients (11%), the lesion was a mass with a mixed (partly liquid-partly solid) structure. We did not find any statistically significant correlation between major types of radiological presentation and tumor receptor arrangement. Knowledge of the main radiologic presentation patterns of malignant male breast neoplasm can help better manage this type of disease, which is rare but whose incidence is increasing

    Clonal haematopoiesis is not prevalent in survivors of childhood cancer

    Get PDF
    This project was funded by the Wellcome Trust Sanger Institute (grant number WT098051). G.S.V. is funded by a Wellcome Trust Senior Fellowship in Clinical Science (WT095663MA). F.F. is funded by Compagnia di San Paolo Grant: “Le cellule staminali del sangue nei guariti di leucemia” Codice SIME 2013-0958 (codice ROL 4201). I.V is funded by the Spanish Ministerio de Economía y Competitividad, Programa Ramón y Cajal

    Iron overload alters the energy metabolism in patients with myelodysplastic syndromes: results from the multicenter FISM BIOFER study

    Get PDF
    Myelodysplastic syndromes (MDS) are hematological malignancies characterized by ineffective hematopoiesis and increased apoptosis in the bone marrow, which cause peripheral cytopenia. Mitochondria are key regulators of apoptosis and a site of iron accumulation that favors reactive oxygen species (ROS) production with detrimental effects on cell survival. Although the energy metabolism could represent an attractive therapeutic target, it was poorly investigated in MDS. The purpose of the study was to analyze how the presence of myelodysplastic hematopoiesis, iron overload and chelation impact on mitochondrial metabolism. We compared energy balance, OxPhos activity and efficiency, lactic dehydrogenase activity and lipid peroxidation in mononuclear cells (MNCs), isolated from 38 MDS patients and 79 healthy controls. Our data show that ATP/AMP ratio is reduced during aging and even more in MDS due to a decreased OxPhos activity associated with an increment of lipid peroxidation. Moreover, the lactate fermentation enhancement was observed in MDS and elderly subjects, probably as an attempt to restore the energy balance. The biochemical alterations of MNCs from MDS patients have been partially restored by the in vitro iron chelation, while only slight effects were observed in the age-matched control samples. By contrast, the addition of iron chelators on MNCs from young healthy subjects determined a decrement in the OxPhos efficiency and an increment of lactate fermentation and lipid peroxidation. In summary, MDS-MNCs display an altered energy metabolism associated with increased oxidative stress, due to iron accumulation. This condition could be partially restored by iron chelatio
    corecore