Cerebellar damage impairs the self-rating of regret feeling in a gambling task

Anatomical, clinical, and neuroimaging evidence implicates the cerebellum in processing emotions and feelings. Moreover recent studies showed a cerebellar involvement in pathologies such as autism, schizophrenia and alexithymia, in which emotional processing have been found altered. However, cerebellar function in the modulation of emotional responses remains debated. In this study, emotions that are involved directly in decision-making were examined in 15 patients (six males; age range 17-60 years) affected by cerebellar damage and 15 well matched healthy controls. We used a gambling task, in which subjects’ choices and evaluation of outcomes with regard to their anticipated and actual emotional impact were analyzed. Emotions, such as regret and relief, were elicited, based on the outcome of the unselected gamble. Interestingly, despite their ability to avoid regret in subsequent choices, patients affected by cerebellar lesions were significantly impaired in evaluating the feeling of regret subjectively. These results demonstrate that the cerebellum is involved in conscious recognizing of negative feelings caused by the sense of self-responsibility for an incorrect decision

Assessment of total hepatitis C virus (HCV) core protein in HCV-related mixed cryoglobulinemia

INTRODUCTION: In hepatitis C virus (HCV)-related mixed cryoglobulinemia (MCG), the nonenveloped HCV core protein (HCV-Cp) is a constituent of the characteristic cold-precipitating immune complexes (ICs). A possible correlation between HCV-Cp, virologic, laboratory, and clinical parameters in both untreated MCG patients and those undergoing specific treatment was explored. METHODS: HCV-Cp was quantified by a fully automated immune assay. Correlations between HCV-Cp and HCV RNA, cryocrit, and virus genotype (gt) were investigated in 102 chronically HCV-infected MCG patients. RESULTS: HCV-Cp concentrations strongly correlated with HCV RNA levels in baseline samples. An average ratio of 1,425 IU and 12,850 IU HCV RNA per picogram HCV-Cp was estimated in HCV gt-1 and gt-2 patients, respectively. This equation allowed us to estimate that, on average, HCV-Cp was associated with the viral genome in only 3.4% of the former and in 35% of the latter group of patients. The direct relation between HCV-Cp and the cryocrit level suggests that the protein directly influences the amount of cryoprecipitate. Although the therapy with rituximab (RTX) as a single agent resulted in the enhancement of HCV-Cp levels, in patients treated with RTX in combination with a specific antiviral therapy (pegylated interferon-α plus ribavirin), the prompt and effective clearance of HCV-Cp was documented. CONCLUSIONS: Our data provide evidence that HCV-Cp has a direct effect on the cold-precipitation process in a virus genotype-dependence in HCV-related MCG patients

Poland Syndrome with atypical malformations associated to a de novo 1.5 Mb Xp22.31 duplication

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

Abstract PURPOSE: Autosomal dominant optic atrophy (ADOA) is the most common form of hereditary optic neuropathy caused by mutations in the optic atrophy 1 (OPA1) gene. It is characterized by insidious onset with a selective degeneration of retinal ganglion cells, variable loss of visual acuity, temporal optic nerve pallor, tritanopia, and development of central, paracentral, or cecocentral scotomas. Here we describe the clinical and molecular findings in a large Italian family with ADOA. METHODS: Routine ophthalmologic examination and direct sequencing of all coding regions of the OPA1 gene were performed. Further characterization of a new OPA1 gene insertion was performed by reverse transcription-PCR (RT-PCR) of RNA from patients and control subjects. RESULTS: We identified an Alu-element insertion located in intron 7 of OPA1 causing an in-frame deletion of exon 8 in 18 family members. CONCLUSIONS: The predicted consequence of this mutation is the loss of the guanosine triphosphatase (GTPase) activity of OPA1. Alu insertions have been reported in the literature as causing human genetic disease. However, this is the first report of a pathogenic OPA1 gene mutation resulting from an Alu insertion

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy

Background: Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. Of note, no overt clinical difference among each group of BP region deletions has been recorded so far. Methods: We report on a four-member family plus an additional unrelated boy affected by a BP3-BP5 deletion that presented with typical clinical signs including speech delay and language impairment. A review of the clinical features associated with the three main groups of BP regions (BP4-BP5, BP3-BP5, and BP3-BP4) deletions is reported. Results: Array-CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated boy (case 5), the following rearrangement: arr (hg19) 15q13.1-q13.3 (29.213.402-32.510.863) x1. Conclusion: This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals

Voluntariado em Saúde na Graduação e a Formação de Valores Humanísticos, Sigilo, Privacidade e Confidencialidade de Pacientes

Voluntário é um termo polissêmico, mas, de forma geral, designa o cidadão que doa tempo, trabalho e talento, espontaneamente e sem remuneração, para causas de interesse comum. Este artigo tem sua base em estudo de tese sobre os riscos à privacidade, sigilo e confidencialidade de pacientes atendidos por voluntários na área da saúde, cujo recorte aqui apresentado trata do potencial dessa experiência de pesquisa e do campo na formação de profissionais de saúde. Os princípios da confidencialidade são de universal importância para a enfermagem, médicos, profissionais de saúde e voluntários. Em linhas gerais, trata-se de estudo de caso descritivo-analítico, com base em método misto, feito por meio de entrevista semiestruturada e aplicação dos instrumentos, adaptados e validados para a população brasileira: Critério de Classificação Econômica Brasil; Inventário de Funções do Voluntariado; e Questionário de Perfis de Valores Refinado. Foram realizadas a análise de conteúdo dos discursos e a análise estatística dos questionários. Há poucos trabalhos publicados no sentido de conhecimento sobre as práticas e sobre a divulgação dos aspectos jurídicos envolvidos no trabalho voluntário, com lacuna na divulgação das legislações existentes que possam sinalizar os passos para os quais os gestores de saúde devem atentar para dar apoio ao trabalho voluntário na saúde. O voluntariado se constitui em oportunidade de o aluno de graduação vivenciar a realidade de uma instituição e desenvolver na sua formação os valores éticos e humanísticos de compromisso com o outro como exercício de cidadania, para além da relação profissional.Voluntary is a polysemic term, but, in general, it designates the citizen who donates time, work and talent, spontaneously and without remuneration, for causes of common interest. This article is based on a thesis on the risks to privacy, secrecy and confidentiality of patients treated by volunteers in the health area, whose presentation here addresses the potential of this research experience and the field in the training of health professionals. The principles of confidentiality are of universal importance to nursing, doctors, health professionals and volunteers. Descriptive-analytical case study, based on Mixed Method, made through semi-structured interview and application of the instruments, adapted and validated for the Brazilian population: Criterion of Economic Classification Brazil; Inventory of Volunteer Functions and Refined Values Profiles Questionnaire. The analysis of the content of the speeches and statistical analysis of the questionnaires was done. There are few published works in the sense of knowledge about practices and the dissemination of legal aspects involved in voluntary work, with a gap in the dissemination of existing legislation that can signal the steps that health managers should consider to support voluntary work in health. Volunteering is an opportunity for undergraduates to experience the reality of an institution and to develop in their formation the ethical and humanistic values of commitment to the other as an exercise of citizenship, in addition to the professional relationship

Need for palliative care from birth to infancy in pediatric patients with neurological diseases

Background Palliative care is a comprehensive treatment approach that guarantees comfort for pediatric patients and their families from diagnosis to death. The techniques used for neurological patients in the field of palliative care can enhance the quality of care provided to patients with neurological disorders and support their families. Purpose This study aimed to analyze the palliative care protocols in use in our department, describe the palliative course in the clinical setting, and propose the implementation of hospital palliative care for long-term prognosis of patients with neurological diseases. Methods This retrospective observational study examined the application of palliative care from birth to early infancy in neurological patients. We studied 34 newborns with diseases affecting the nervous system impairing prognosis. The study was conducted from 2016 to 2020 at the Neonatology Intensive Care Unit and the Pediatric Unit of the San Marco University Hospital in Catania, Sicily, Italy. Results Despite current legislation in Italy, no palliative care network has been activated to meet the needs of the population. In our center, given the vast number of patients with neurological conditions requiring palliative care, we should activate a straightforward departmental unit for neurologic pediatric palliative care. Conclusion The establishment of specialized reference centers that manage significant neurological illnesses is due to neuroscience research progress in recent decades. Integration with specialized palliative care is sparse but now seems essential