An Analysis of Loneliness and Contributing Variables Among College Students

Undergraduate Applie

An Analysis of Loneliness and Contributing Variables Among College Students

Undergraduate Applie

A rare urinary JC virus reactivation after long-term therapy with rituximab

Abstract The possible role of JC virus in determining urinary tract involvement has only recently been recognized. The case of a man with laboratory-confirmed JC virus replication in the urine after a maintenance schedule of rituximab administered for a lymphoproliferative disorder is reported herein. The patient developed severe renal and urinary tract impairment, characterized by the onset of nephropathy, bilateral ureteral strictures, and a serious reduction in vesical compliance, ultimately requiring an ileal neobladder configuration. The renal and urinary tract involvement was finally attributed to JC virus reactivation. This observation suggests that renal and urinary tract diseases related to JC virus might be associated with long-term rituximab treatment

Victimization in Childhood of Male Sex Offenders: Relationship between Violence Experienced and Subsequent Offenses through Discourse Analysis

This study aims at better understanding how the form of childhood violence experienced and the type of offense subsequently committed affect how sex offenders recall punishments and difficult events. Fifty-four male perpetrators convicted of sexual offenses against children (SOCs) or against adults (SOAs) were interviewed in France, Belgium, and Switzerland using the Lausanne Clinical Interview (Entretien Clinique de Lausanne or LCI). Almost three-quarters of the sex offenders reported having been victimized during childhood. The correspondence analysis identified several factors that differentiated them. Their appraisal of the distressing event, method of coping with and distancing themselves from it, and how they dealt with emotions varied markedly depending on whether they recognized having experienced various forms of violence during childhood and on what type of offense they subsequently committed. Victimization can be identified as much by the events experienced as by their effect on the sex offender's discourse. Identification of these discursive indicators may lead to an improved therapeutic approach for potentially traumatic childhood experiences

A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy

Background: Arrhythmogenic cardiomyopathy (ACM) is associated with arrhythmias and risk of sudden death. Mutations in genes encoding proteins of cardiac intercalated discs account for 3c60% of ACM cases, but the remaining 40% is still genetically elusive. Objective: The purpose of this study was to identify the underlying genetic cause in probands with ACM. Methods: DNA samples from 40 probands with ACM, negative for mutations in the 3 major ACM genes\u2014DSP, PKP2, and DSG2, were screened by using a targeted gene panel consisting of 15 known ACM genes and 53 candidate genes. Results: About half of patients were found to carry rare variant(s) predicted to be damaging; specifically, 9 (22.5%) showed 651 variants in genes associated with ACM and/or with other inherited heart diseases and 10 (25%) showed variants in candidate genes. Among the latter, we focused on 2 novel variants in TP63 and PPP1R13L candidate genes (c.796C>T, p.(R266*) and c.1858G>C, p.(A620P), respectively). The encoded proteins p63 and inhibitor of apoptosis stimulating p53 protein are known to be interacting partners. Inhibitor of apoptosis stimulating p53 protein is a shuttling multifunctional protein: in the nucleus it is critical for inhibiting p63 function, whereas in the cytoplasm it regulates desmosome integrity. According to the American College of Medical Genetics and Genomics guidelines, the variant in TP63 has been scored as likely pathogenic and the variant in PPP1R13L as a variant of uncertain significance. Importantly, the mutant TP63 allele leads to nonsense-mediated messenger RNA decay, causing haploinsufficiency. Conclusion: Our findings identify TP63 as a putative novel disease gene for ACM, while the possible involvement of PPP1R13L remains to be determined.Background: Arrhythmogenic cardiomyopathy (ACM) is associated with arrhythmias and risk of sudden death. Mutations in genes encoding proteins of cardiac intercalated discs account for 3c60% of ACM cases, but the remaining 40% is still genetically elusive. Objective: The purpose of this study was to identify the underlying genetic cause in probands with ACM. Methods: DNA samples from 40 probands with ACM, negative for mutations in the 3 major ACM genes\u2014DSP, PKP2, and DSG2, were screened by using a targeted gene panel consisting of 15 known ACM genes and 53 candidate genes. Results: About half of patients were found to carry rare variant(s) predicted to be damaging; specifically, 9 (22.5%) showed 651 variants in genes associated with ACM and/or with other inherited heart diseases and 10 (25%) showed variants in candidate genes. Among the latter, we focused on 2 novel variants in TP63 and PPP1R13L candidate genes (c.796C>T, p.(R266*) and c.1858G>C, p.(A620P), respectively). The encoded proteins p63 and inhibitor of apoptosis stimulating p53 protein are known to be interacting partners. Inhibitor of apoptosis stimulating p53 protein is a shuttling multifunctional protein: in the nucleus it is critical for inhibiting p63 function, whereas in the cytoplasm it regulates desmosome integrity. According to the American College of Medical Genetics and Genomics guidelines, the variant in TP63 has been scored as likely pathogenic and the variant in PPP1R13L as a variant of uncertain significance. Importantly, the mutant TP63 allele leads to nonsense-mediated messenger RNA decay, causing haploinsufficiency. Conclusion: Our findings identify TP63 as a putative novel disease gene for ACM, while the possible involvement of PPP1R13L remains to be determined