Publications by authors named "Genovese G"

Temperament is an individual aspect that strictly affects infants and children engagement with the environment and it is supposed to play a role in the acquiring of new competences. Several studies focused on the possible influence of temperament in the process of language acquisition in early childhood reporting not consistent findings. Since maternal input is a variable that has been widely associated with infant language development this longitudinal study aimed to explore the role of the quality of maternal input in the temperament-language association.

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We report a case of secondary syphilis mimicking lupus vulgaris in an HIV-infected patient. A 21-year-old Brazilian man presented with a two-month history of asymptomatic cutaneous lesions accompanied by fever and fatigue. Dermatological evaluation revealed an erythematous, crusted, large plaque on the neck with the 'apple jelly' sign on diascopy and two smaller scaly elements on the trunk and left palm.

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The relationship between Kaposi's sarcoma (KS) and psoriasis is still controversial. To analyse the association between KS and psoriasis, address the hypothesis of a reciprocal influence between the two conditions relative to clinical presentation and evolution, and consider the best therapeutic approach to be used for the treatment of psoriasis in KS patients in order to avoid the typical induction or worsening of KS during immunosuppression. We retrospectively reviewed clinical records of 37 patients with KS and psoriasis.

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The selective pressures that shape clonal evolution in healthy individuals are largely unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, that we uncovered in blood-derived DNA from 151,202 UK Biobank participants using phase-based computational techniques (estimated false discovery rate, 6-9%). We found six loci at which inherited variants associated strongly with the acquisition of deletions or loss of heterozygosity in cis.

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Background: In this study, we examined the impact of personality traits, assessed with the psychopathic personality inventory revised version (PPI-R), on medical students' likelihood of selecting a surgical specialty.

Methods: This is a cross-sectional questionnaire-based study of 360 4-year medical students at a single university. We used the PPI-R previously developed to evaluate "adaptive" traits within nonclinical (student) populations.

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Autoinflammatory diseases (AIDs) encompass a heterogeneous group of disorders pathogenetically related to an abnormal activation of the innate immunity and clinically characterised by aseptic inflammation in the affected organs in the absence of high titer of circulating autoantibodies or autoreactive T cells. In classic monogenic AIDs, the skin is frequently involved with a wide range of cutaneous lesions. Monogenic AIDs result from different mutations in a single gene, which regulates the innate immunity.

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Background: Kaposi's sarcoma (KS) is a rare endothelial neoplasm caused by the human herpesvirus 8 (HHV-8). Its risk is increased in immunocompromised patients, including those undergoing immunosuppressive therapy for autoimmune bullous diseases. Conversely, HHV-8 infection has been hypothesized to be a triggering factor of bullous diseases, especially pemphigus.

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Primary cutaneous endometriosis is a rare condition. It appears without a prior history of surgical procedure and the umbilicus is the most frequently involved area. Primary umbilical endometriosis, or Villar's nodule, usually presents as a painful nodule.

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Granulomatosis with polyangiitis (GPA) is a systemic necrotizing small vessel vasculitis associated with circulating anti-neutrophil cytoplasmic antibodies (ANCAs). Skin manifestations, mostly represented by palpable purpura, papulonodular lesions and livedo reticularis, are present in up to 50% of the cases. Ulcerations with undermined, raised erythematous-violaceous border resembling pyoderma gangrenosum (PG) have rarely been reported as skin involvement in GPA.

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Finland provides unique opportunities to investigate population and medical genomics because of its adoption of unified national electronic health records, detailed historical and birth records, and serial population bottlenecks. We assembled a comprehensive view of recent population history (≤100 generations), the timespan during which most rare-disease-causing alleles arose, by comparing pairwise haplotype sharing from 43,254 Finns to that of 16,060 Swedes, Estonians, Russians, and Hungarians from geographically and linguistically adjacent countries with different population histories. We find much more extensive sharing in Finns, with at least one ≥ 5 cM tract on average between pairs of unrelated individuals.

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Thrombosis is a major cause of morbidity and mortality in Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), clonal disorders of hematopoiesis characterized by activated Janus kinase (JAK)-signal transducer and activator of transcription (STAT) signaling. Neutrophil extracellular trap (NET) formation, a component of innate immunity, has been linked to thrombosis. We demonstrate that neutrophils from patients with MPNs are primed for NET formation, an effect blunted by pharmacological inhibition of JAK signaling.

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We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions surrounding genes with the highest specific expression in a given tissue. We applied our approach to gene expression data from several sources together with GWAS summary statistics for 48 diseases and traits (average N = 169,331) and found significant tissue-specific enrichments (false discovery rate (FDR) < 5%) for 34 traits.

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Restricted Boltzmann machines are described by the Gibbs measure of a bipartite spin glass, which in turn can be seen as a generalized Hopfield network. This equivalence allows us to characterize the state of these systems in terms of their retrieval capabilities, both at low and high load, of pure states. We study the paramagnetic-spin glass and the spin glass-retrieval phase transitions, as the pattern (i.

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People of recent African ancestry develop kidney disease at much higher rates than most other groups. Two specific coding variants in the Apolipoprotein-L1 gene termed G1 and G2 are the causal drivers of much of this difference in risk, following a recessive pattern of inheritance. However, most individuals with a high-risk genotype do not develop overt kidney disease, prompting interest in identifying those factors that interact with We performed an admixture mapping study to identify genetic modifiers of -associated kidney disease.

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The objective of the present study is to analyze and compare the cutting performance of segmented diamond blades when dry-cutting concrete. A cutting criteria is proposed to characterize the wear of the blades by measuring the variation of the external diameter and the weight loss of the blade. The results exhibit the cutting blade SB-A, which has twice the density of diamonds and large contact area, exhibits less wear even though the material removal rate is higher compared with the other two cutting blades.

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Background: Xerosis is common among patients with Kaposi's sarcoma (KS). The aim of our study was to evaluate the efficacy of a detergent containing dihydroavenanthramide D 5% combined with a moisturizer containing 1% of menthol for the treatment of chronic pruritus associated with xerosis in elderly KS patients.

Methods: We conducted a prospective, open-label, intra-individual, right/left comparative study.

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