12 research outputs found

    Cutaneous cryptococcosis in a patient affected by chronic lymphocytic leukaemia: a case report.

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    Cryptococcosis is an opportunistic infection, the incidence of which is increased in the immunocompromised patients. Cryptococcus neoformans is an encapsulated fungus that mainly infects the lungs and the central nervous system, possibly involving different organs. Cutaneous cryptococcosis is classified into localized infection, usually occurring after traumatic inoculation (primary cutaneous cryptococcosis) and cutaneous manifestation due to hematogenous dissemination (secondary cutaneous cryptococcosis), mostly in patients with underlying immunosuppression. We report a case of cutaneous cryptococcosis in a patient affected by chronic lymphocytic leukaemia

    Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

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    The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique\u2014Subtype and Stage Inference (SuStaIn)\u2014able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-sectional patient studies. Results from imaging studies in two neurodegenerative diseases reveal subgroups and their distinct trajectories of regional neurodegeneration. In genetic frontotemporal dementia, SuStaIn identifies genotypes from imaging alone, validating its ability to identify subtypes; further the technique reveals within-genotype heterogeneity. In Alzheimer\u2019s disease, SuStaIn uncovers three subtypes, uniquely characterising their temporal complexity. SuStaIn provides fine-grained patient stratification, which substantially enhances the ability to predict conversion between diagnostic categories over standard models that ignore subtype (p = 7.18 7 10 124 ) or temporal stage (p = 3.96 7 10 125 ). SuStaIn offers new promise for enabling disease subtype discovery and precision medicine

    Bilateral inguinal hernia with dislocation of great saphenous vein as complication of long-standing granulomatous slack skin: a case report

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    Granulomatous slack skin (GSS) represents a rare variant of mycosis fungoides, histologically characterized by a variably deep T helper lymphocytes infiltrate with alteration of the dermal elastic tissue and consequent elastolysis, elastophagocytosis and numerous giant cells. Clinically, a development of unelastic, slack skin, especially on flexural areas, is observed. Hereby, we describe a man with a 12-year history of GSS. In 2002, for practical (limitation of movement, deambulation) and cosmetic reasons, he underwent the surgical excision of loose and sagging skinfold over inguinal area, and, afterwards, of the opposite affected inguinal skin. The surgical treatment of bilateral inguinal hernia with reposition of inguinal dislocated vasculature is also reported. In both cases the excised material confirmed the former diagnosis of GSS and revealed a very deep, muscular infiltrate of neoplastic lymphocytes. One year later, a new excision of GSS on the axillae was made. Now, after 2 years, deambulation keeps improving, although an initial relapse of the inguinal slack skin has been observed

    Mycosis fungoides in childhood: description and study of two siblings.

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    Primary cutaneous T-cell lymphomas are exceedingly rare in children and adolescents. However, mycosis fungoides (MF) is the most frequent primary cutaneous lymphoma diagnosed in childhood. Two cases of MF in siblings (a 14-year-old boy and his 10-year-old sister) are reported. On the basis of clinical features (histopathological and immunophenotypical findings) a diagnosis of MF patch lesions was made in both siblings. Since recent data in the literature have underlined a high frequency of the HLA-DQB1*03 allele in patients with familial MF (including child patients), the HLA profile of the patients was analysed, indicating the presence of a haplotype (HLA-DQB1*03,*03 in the girl, HLA-DQB1*02,*03 in the boy) corresponding with that described in recent literature. Two rare and exceptional cases of MF in siblings are reported, highlighting the presence of a peculiar haplotype

    Cutaneous Cryptococcosis in a Patient Affected by Chronic Lymphocytic Leukaemia: A Case Report

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    Cryptococcosis is an opportunistic infection, the incidence of which is increased in the immunocompromised patients. Cryptococcus neoformans is an encapsulated fungus that mainly infects the lungs and the central nervous system, possibly involving different organs. Cutaneous cryptococcosis is classified into localized infection, usually occurring after traumatic inoculation (primary cutaneous cryptococcosis) and cutaneous manifestation due to hematogenous dissemination (secondary cutaneous cryptococcosis), mostly in patients with underlying immunosuppression. We report a case of cutaneous cryptococcosis in a patient affected by chronic lymphocytic leukaemia
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