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The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred.

Background: Hepatitis C virus (HCV) infection is associated with production of different serum non-organ-specific antibodies (NOSA) and risk for developing autoimmune disorders. The clinical significance of these phenomena is not fully understood., Aim: To assess non-organ-specific antibodies before and 24 weeks after the end of therapy with direct-acting antivirals in patients with HCV-related infection, to better clarify the clinical relevance of these antibodies in terms of treatment response and prognostic value., Methods: Patients enrolled (191) were considered non-organ-specific antibody-positive for titres ≥1:40 on at least two determinations before treatment., Results: At baseline, 46 patients were positive and 145 were negative for autoantibodies. The prevalence of autoimmune thyroiditis was significantly higher in non-organ-specific antibody-positive group than non-organ-specific antibody-negative group (P = 0.02). HCV-RNA 24 weeks after the end of antiviral therapy was 100% negative in patients with antibodies positivity and 98.6% in antibody-negative patients (P = 1.0). In the former group, autoantibodies disappeared in 30 of 46 patients (65.2%). On multivariate analysis, non-organ-specific antibody-negativity was significantly reduced in patients with hepatic hilar lymphadenopathy (OR = 0.17; 95% CI 0.02-0.94, P = 0.04). None of the adverse events occurring during antiviral therapy was related to autoimmune disorders., Conclusions: Hepatitis C virus clearance frequently reduces non-organ-specific antibody positivity suggesting that they represent an epiphenomenon of the viral infection. However, in patients who did not become negative, long-term monitoring would establish whether they could hide an underlying process that may progress into a clear autoimmune or rheumatologic disease. (Trial registration number: NCT03566966)., (© 2018 John Wiley & Sons Ltd.)

The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare. By using GTG-banding analysis, metaphase FISH, MLPA analysis, and genome-wide array CGH, we detected an unbalanced translocation involving a microdeletion of the distal part of 15q and a microduplication of the distal part of 18q. The unbalanced translocation was found in a boy that was referred with clinical suspicion of Prader-Willi syndrome. In the 15q-deleted region, 23 genes have been identified, and 13 of them are included in the OMIM database. Among these, the deleted IGFR1, MEF2A, CHSY1, and TM2D3 genes could contribute to the patient's phenotype. Seven genes are included in the duplicated chromosome segment 18q, but only one (CTDP1) is present in the OMIM database. We suggest that the deleted chromosome segment 15q26.2qter may be responsible for the phenotype of our case and may also be a candidate locus of Prader-Willi-like syndrome., (© 2016 S. Karger AG, Basel.)

In this study we investigated whether the human brain distinguishes between telic events that necessarily entail a specified endpoint (e.g., reaching), and atelic events with no delimitation or final state (e.g., chasing). We used functional magnetic resonance imaging to explore the patterns of neural response associated with verbs denoting telic and atelic events, and found that the left posterior middle temporal gyrus (pMTG), an area consistently engaged by verb processing tasks, showed a significantly higher activation for telic compared with atelic verbs. These results provide the first evidence that the human brain appreciates whether events lead to an end or a change of state. Moreover, they provide an explanation for the long-debated question of which verb properties modulate neural activity in the left pMTG, as they indicate that, independently of any other semantic property, verb processing and event knowledge in this area are specifically related to the representation of telicity., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Verbs and nouns differ not only on formal linguistic grounds but also in what they typically refer to: Verbs typically refer to actions, whereas nouns typically refer to objects. Prior neuroimaging studies have revealed that regions in the left lateral temporal cortex (LTC), including the left posterior middle temporal gyrus (pMTG), respond selectively to action verbs relative to object nouns. Other studies have implicated the left pMTG in action knowledge, raising the possibility that verb selectivity in LTC may primarily reflect action-specific semantic features. Here, using functional neuroimaging, we test this hypothesis. Participants performed a simple memory task on visually presented verbs and nouns that described either events (e.g., "he eats" and "the conversation") or states (e.g., "he exists" and "the value"). Verb-selective regions in the left pMTG and the left STS were defined in individual participants by an independent localizer contrast between action verbs and object nouns. Both regions showed equally strong selectivity for event and state verbs relative to semantically matched nouns. The left STS responded more to states than events, whereas there was no difference between states and events in the left pMTG. Finally, whole-brain group analysis revealed that action verbs, relative to state verbs, activated a cluster in pMTG that was located posterior to the verb-selective pMTG clusters. Together, these results indicate that verb selectivity in LTC is independent of action representations. We consider other differences between verbs and nouns that may underlie verb selectivity in LTC, including the verb property of predication.

Background: The prevalence of hepatitis C virus infection increases with advancing age, but elderly hepatitis C virus patients remain an understudied population., Aim: To define the virological, epidemiological and clinical profiles of Italian outpatients aged 65 years and over infected by hepatitis C virus., Methods: We evaluated 1544 anti-hepatitis C virus positive patients aged ≥65 years referred to 34 Italian outpatient specialty clinics over a two-year period., Results: The study population included 1134 (73%) early elderly (65-74 years) and 410 (27%) late elderly patients (≥75 years). Late elderly subjects were less likely to have their virus genotyped, their viral load assessed or a histological evaluation of liver disease. Overall, 30% of patients had advanced liver disease whose prevalence increased with increasing age. In both age groups, about 40% of patients had normal transaminase levels. Excluding patients with past infection, 51% had not received any antiviral treatment and only 25% were treated after the age of 65. Late elderly patients, women and patients with advanced liver diseases had been less frequently treated. The main reason for exclusion from treatment was age followed by the presence of comorbid conditions., Conclusions: Elderly hepatitis C virus patients referred to Italian specialty clinics have advanced and underestimated liver disease. Nevertheless, they are progressively understudied in parallel with increasing age., (Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)

Molecular cytogenetics allows to verify chromosomal homologies previously hypothesised on the base of banding pattern comparison in different species. So far only the chromosome painting technique has been extensively used in studies of chromosomal evolution. This technique allows to detect only interchromosomal rearrangements. Human and Great Apes chromosomes basically differ by intrachromosomal rearrangements, in particular inversions; with chromosome painting it has just been possible to confirm the origin by fusion of human chromosome 2 and a reciprocal translocation in Gorilla, involving the homologous of chromosome 5 and 17. In order to verify intrachromosomal rearrangements in human chromosomal evolution, chromosome mapping of human loci in non-human primates is a useful approach. We mapped Miller-Diecker, Smith-Magenis and RARA loci localised on human chromosome 17, in Gorilla gorilla, Pongo pygmaeus, Macaca fascicularis and Cercopithecus aethiops. On the base of the obtained results it was possible to verify chromosomal rearrangements previously identified by banding, to achieve new informations about the controversial evolution of human chromosome 17, and to detect the occurrence of a paracentric inversion in the homologous in Cercopithecus aethiops.

In the search for parameters that can indicate changes in the behaviour of liver tissue from normal to chronic to neoplastic disease, DNA content by FCM (ploidy and percent of 4N cells) and morphobiological characteristics were investigated in fresh liver specimens of 16 patients with normal liver, 21 with persistent hepatitis (CPH), 23 with chronic active hepatitis (CAH), 17 with cirrhosis, and 13 with hepatocellular carcinoma (HCC). Aneuploidy was mostly found in HCC specimens (54%), whereas the percentage of 4N peak decreased in chronic hepatitis and cirrhosis patients but increased to 11.09% in HCC samples (r = -0.02; p = 0.05). Finally, the binuclearity rate decreased gradually from normal to flogistic to HCC specimens. The 4N peak and the binuclearity rate were closely correlated in non-HCC (p = 0.0006, by T-test) but not in HCC samples. Only DNA ploidy and the binuclearity rate have been confirmed as being significantly and independently related to the histology of liver tissue by multivariate regression analysis.

We describe a case of exacerbated mixed cryoglobulinemia in a patient previously treated with alpha-interferon, for chronic active hepatitis. The possible pathogenesis of this exacerbated mixed cryoglobulinemia and the relationship between cytokines, hepatitis viral infections and immune reactions is discussed.

Although supported by a number of experimental models, the assumption assigning a crucial role to the immune system in the antineoplastic defense mechanisms has not been convincingly demonstrated so far for human tumors. Should the theory be correct, severe functional impairment of the immune system would obviously result in the occurrence of tumors with abnormally high frequency. Registry holdings systematically collecting pertinent information on the malignancies developed in patients with primary immunodeficiency diseases or in organ transplant recipients maintained on therapeutically-induced immune depression, as well as the observation of tumors occurring in patients treated with immunosuppressive agents and of second malignancies arising after radio- and/or chemotherapy of the primary tumor consistently indicate that depressed immunity is usually associated with an increased incidence of cancer as compared with that expected in the general control populations. However, not all types of tumors are increased to the same extent, in that lymphoreticular neoplasias (especially non-Hodgkin's lymphomas), acute leukemias as second tumors and, among solid neoplasms, squamous cell carcinomas are those most frequently reported. These observations suggest that even deeply impaired tumoricidal immune mechanisms may facilitate the growth of certain tumors only, especially of those arising from the cells of the immune system itself, in remarkable contrast with their frequency in the general population. Oncogenesis may be favoured in various states of depressed immunity by a number of ways. Their elucidation might have bearing on the comprehension of the more general phenomenon of the neoplastic transformation.