The dominion of means over ends. Modern bank credit and Max Weber’s irrational rationalization

The institutions which grant credit today can be considered to be an example of what Max Weber describes as the typical rationalization of modern age. Such a rationalization would bring a lack of reflection on what should be the ultimate significance of certain technical means, which are confused with a value-in-itself of a social context. The paper highlight the fact that the function of credit consistent with individuals’ ‘ultimate ends’ seems to be that of a temporal coordination between the ‘bargaining wills’ of different individuals who aim at obtaining the highest benefit by means of the utility of their products and the products of their peers. But the current epoch has favored the elevation of historically determined features of credit-issuing to ultimate ends. Referring, among other sources, to a report by the Bank of England and to studies by Neo-Keynesian authors such as Stiglitz, this essay establishes that the consequence of the current private structure of credit-issuing is that the ultimate end of credit does not coincide with maximization and economic reciprocity but with the assessment of a risk which is distinctly private. Also, since in this structure Central Bank acts as the bank of all commercial banks, credit granting can be read as being in function of the availability – within a circumscribed economic web – of a specific credit ‘raw material’ which has a price: central bank’s liquidity. This situation puts a deep philosophical problem into the limelight, since any ‘existential’ preferability of the current model of credit issuing can only be explained as an alienation

Aspectos clínicos e moleculares de tumor adrenocortical metacrônico pediátrico

The occurrence of metachronous adrenocortical carcinoma has rarely been described. We report a case of a child with virilizing adrenocortical metachronous tumors that, despite several metastases, presented long-term survival (15 years). We analyzed in this tumor IGF2, IGF1R and FGFR4 gene expression, and evaluated the presence of p.R337H germline p53 mutation and somatic CTNNB1 mutation. IGF2 gene was over-expressed in both left (Weiss score 5) and right (Weiss 7) adrenocortical tumors. IGF1R expression levels were higher in the right adrenocortical tumor. FGFR4 over-expression was also detected in the right adrenocortical tumor. In addition, this patient harbors the germline p.R337H p53 mutation and loss of heterozygosity (LOH) was detected in the tumors. No somatic CTNNB1 mutations were found in both tumors. In conclusion, we demonstrated in this unusual case the over-expression of growth signaling pathways, which are molecular mechanisms previously related to adrenocortical tumorigenesis. Furthermore, the absence of somatic CTNNB1 mutations, which is a molecular marker of poor prognosis in adults, might be related to the long-term survival of this patient.A ocorrência de carcinomas adrenocorticais metacrônicos é raramente relatada. Descrevemos o caso de uma criança portadora de tumor adrenocortical virilizante metacrônico que, apesar das inúmeras metástases, apresentou uma longa sobrevida (15 anos). Analisamos nesse tumor a expressão gênica de IGF2, IGF1R e FGFR4 e avaliamos a presença da mutação germinativa R337H no p53 e mutação somática no gene CTNNB1. O gene IGF2 foi hiperexpresso nos tumores adrenocorticais esquerdo (Weiss 5) e direito (Weiss 7). Os níveis de expressão de IGF1R foram maiores no tumor direito. Hiperexpressão do gene FGFR4 também foi observada no tumor adrenocortical direito. Esse paciente é portador da mutação germinativa R337H no p53, e perda de heterozigose (LOH) foi observada em ambos os tumores. Não foram encontradas mutações no gene CTNNB1 nos tumores. Em conclusão, demonstramos neste caso a hiperexpressão de vias moleculares de crescimento, que são mecanismos previamente relacionados à tumorigênese adrenocortical. Além disso, não encontramos mutações somáticas no gene CTNNB1, que é um marcador molecular de mau prognóstico em adultos e poderia estar relacionado à longa sobrevida desse paciente

Estatura alta e hipodesenvolvimento mamário após reposição estrogênica em paciente com hipogonadismo hipergonadotrófico e cariótipo 45,X/46,X, der(X) com superdosagem do gene SHOX

SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion. It was reported, recently, that SHOX overdosage and gonadal estrogen deficiency have led to tall stature due to continued growth. We report, in the present study, a female patient with 45,X/46,X, psu idic(X)(pter→q21:q21→pter) karyotype, tall stature, and hypergonadotrophic hypogonadism without Turner stigmas. She did not present breast development even after long term therapy with high estrogen doses. Fluorescence in situ hybridization depicted the presence of three copies of SHOX gene. Microsatellite studies showed paternal origin of der(X). Further studies in similarly affected patients will clarify if the absence of breast development, despite previous high-dose estrogen treatment, is associated to triple copy of SHOX gene.O gene SHOX é expresso, exclusivamente, no primeiro e no segundo arcos faríngeos, assim como nas extremidades dos ossos dos membros em embriões humanos. SHOX normalmente atua como um promotor para o crescimento linear e como um repressor do fechamento da placa de crescimento. Recentemente, foi descrito que o excesso da proteína SHOX associada à deficiência estrogênica gonadal leva à estatura alta devido ao contínuo crescimento. Neste estudo descrevemos uma paciente do sexo feminino com cariótipo 45,X/46,X,psu idic(X)(pter→q21:q21→pter), estatura alta, hipogonadismo hipergonadotrófico e sem estigmas de Turner. A paciente não apresentou desenvolvimento de mamas, mesmo depois do tratamento prolongado com altas doses de estrógenos. FISH evidenciou a presença de três cópias do SHOX. Estudo de microssatélites demonstrou a origem paterna do der(X). Estudos futuros em pacientes com semelhanças clínicas esclarecerão se a ausência de desenvolvimento de mamas, apesar do tratamento com altas doses de estrógenos, está associada à tripla cópia do SHOX.Conselho Nacional de Pesquisa (CNPq

Análise da expressão dos receptores do peptídeo insulinotrópico dependente de glicose (GIPR) e do hormônio luteinizante (LHCGR) nas hiperplasias adrenocorticais humanas

OBJECTIVE: To analyze the aberrant expression of the GIPR and LHCGR in different forms of adrenocortical hyperplasia: ACTH-independent macronodular adrenal hyperplasia (AIMAH), primary pigmented nodular adrenocortical disease (PPNAD) and diffuse adrenal hyperplasia secondary to Cushing's disease (DAHCD). METHODS: We quantified GIPR and LHCGR expressions using real time PCR in 20 patients with adrenocortical hyperplasia (seven with AIMAH, five with PPNAD, and eight with DAHCD). Normal adrenals tissues were used as control and the relative expression was compared with β-actin. RESULTS: GIPR and LHCGR expressions were demonstrated in all tissues studied. Median GIPR and LHCGR mRNA levels were 1.6; 0.4; 0.5 and 1.3; 0.9; 1.0 in adrenocortical tissues from AIMAH, PPNAD and DAHCD respectively. There were no differences between GIPR and LHCGR expressions in all tissues studied. CONCLUSIONS: GIPR and LHCGR overexpression were not identified in the studied cases, thus suggesting that this molecular mechanism is not involved in adrenocortical hyperplasia in our patients.OBJETIVO: Analisar a expressão aberrante do GIPR e do LHCGR em diferentes formas de hiperplasias adrenocorticais: hiperplasia adrenal macronodular independente de ACTH (AIMAH), doença adrenocortical nodular pigmentada primária (PPNAD) e hiperplasia adrenal difusa secundária à doença de Cushing (DAHCD). MÉTODOS: Quantificou-se por PCR em tempo real a expressão desses receptores em 20 pacientes: sete com AIMAH, cinco com PPNAD e oito com DAHCD. Adrenais normais foram utilizadas como controle e a expressão relativa desses receptores foi comparada à expressão da β-actina. RESULTADOS: A expressão desses receptores foi demonstrada em todos os tecidos estudados. A mediana da expressão do GIPR e do LHCGR foi de 1,6; 0,4; 0,5 e de 1,3; 0,9; 1,0 nos tecidos dos pacientes com AIMAH, PPNAD e DAHCD, respectivamente. Não houve diferença significativa na expressão desses receptores nos tecidos estudados. CONCLUSÕES: Hiperexpressão do GIPR e do LHCGR não foi observada, sugerindo que esse mecanismo não está envolvido na patogênese molecular da hiperplasia adrenal nesses pacientes

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype-phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian-determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1-related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever-expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction

Ausência da perda de heterozigose do PRKAR1A em células capturadas por microdissecção a laser de tecido de nódulo pigmentoso adrenocortical de um paciente com complexo de Carney causado por uma nova mutação nonsense

OBJECTIVE: Primary pigmented nodular adrenocortical disease (PPNAD) is the main endocrine manifestation of Carney complex, a multiple neoplasia syndrome caused by PRKAR1A gene mutations. The presence of PRKAR1A loss of heterozygosity (LOH) in adrenocortical tumorigenesis remains controversial. The aim of the present study is to investigate the presence of PRKAR1A LOH in adrenocortical cells in a patient with Carney complex. METHODS: The LOH was investigated using a PRKAR1A informative intragenic marker by GeneScan software analysis in DNA obtained from laser-captured microdissected cells of several adrenal nodules. Patients: A young adult male patient with Carney complex and his family were studied. RESULTS: A novel heterozygous mutation (p. Y21X) was identified at PRKAR1A in blood DNA of the male proband and his relatives. No PRKAR1A LOH was evidenced in the laser-captured microdissected cells from PPNAD tissue by different methodologies. CONCLUSION: We identified a new PRKAR1A nonsense mutation and in addition we did not evidence PRKAR1A LOH in laser-captured nodules cells, suggesting that adrenocortical tumorigenesis in PPNAD may occurs apart from the second hit.OBJETIVO: A doença adrenocortical nodular pigmentosa primária (PPNAD) é uma das manifestações do complexo de Carney, uma neoplasia endócrina múltipla causada por mutações no PRKAR1A. A perda de heterozigose (LOH) do PRKAR1A na tumorigenese adrenal permanece controversa dada à possibilidade de contaminação com o tecido normal. Nosso objetivo foi investigar a presença de LOH no PRKAR1A a partir de células do nódulo adrenal de um paciente com complexo de Carney. MÉTODOS: A pesquisa da LOH do PRKAR1A foi realizada através do estudo de um marcador intragênico em DNA de células do nódulo adrenal microdissecadas a laser, evitando contaminação com o tecido normal. Pacientes: Um paciente com PPNAD e cinco familiares foram estudados. RESULTADOS: A nova mutação (p. Y21X) foi identificada no PRKAR1A sem evidência de LOH no tecido adrenal. CONCLUSÃO: Identificamos uma nova mutação no PRKAR1A e não evidenciamos LOH nas células dos nódulos adrenocorticais, sugerindo que a PPNAD possa ocorrer na ausência de um segundo evento molecular

Effects of Interactive Musical Activities on the Well-being of Children with Urogenital Anomalies during Hospitalization for Surgery

Background: Hospitalizations and surgeries are stressful situations mainly for children. It is extremely important to search for strategies that can help to reduce suffering and stress in children during medical treatments, contributing then to the process of humanization in health care. Due to the therapeutic potential of music, we believe that it could be an alternative to help children to cope better with the situation of anxiety and stress arising from a hospitalization. This research intended to evaluate the effect of interactive musical activities in reducing stress in children hospitalized for urological surgery. Methods: Fifty-four children were invited for the study of which 40 participated. Twenty-two of those were part of the experimental group and 18 of the control group. The experimental group participated in 15 to 30 minutes daily sessions of playful interactive musical activities during hospitalization (~5 days), except on the day of surgery. The Child Stress Scale - ESI, the drawing-and-story procedure for analysis of the feelings towards surgery and salivary cortisol at 8:00 AM and 4:00 PM were used to evaluate the degree of stress in these children. Results: The stress score obtained before and after surgery significantly decreased in both groups, mainly in the experimental group. There was no significant difference in positive and negative feelings towards the surgery in both groups. Salivary cortisol levels between the 2 groups were also similar. Conclusion: A positive effect of musical activities in children’s stress reduction during the hospitalization period was observed, indicating that these procedures can contribute to the well-being of these patients. Keywords: Hospitalized child, Music, Stress, Music therapy, Urogenital abnormalities/surger

Epistemologias afrocentradas na academia: desafios de um concurso para docente em dança

This work presents an Ethnographic essay on the experience of a public competition for effective professor of Afro-Brazilian dances placed at a brazilian federal university. The text describes the singularity of the event, characterised by the epistemological clash between the Afro-centred knowledge and the Eurocentric academic tradition, presenting how the examination panel, constituted by the authors of this text, forged an anti-racist posture against a structurally racist system. The present essay takes perspectives from Performance Studies and Exuneutics to describe the candidates' performances and practices in Afro-Brazilian dances, whose principles profoundly collide with academic dances based on rationalist models of systematization and diffusion. Among these principles, it was identified that the connection with ancestry is one of the basic elements of the Afro-centred perspective. The text analyses the competition explicitly as a crossroads, where the panel constructed a conduct in which the roles of ethnographers and evaluators overlapped, while listening and defining criteria was woven in real time. The article concludes that this competition constituted an exemplary situation in which academic criteria needed to be readjusted to accommodate epistemodiversity.   Este trabalho apresenta um ensaio etnográfico sobre a experiência de um concurso público para docente efetivo em danças afro-brasileiras ocorrido em universidade federal do sul do Brasil. O texto busca narrar a singularidade do evento, que tornou evidente o choque epistemológico entre os saberes forjados em cultura afrocentrada e o conhecimento acadêmico eurocêntrico colonizador. Apresenta o modo como a banca de avaliação, constituída pelos(as) autores(as) do texto, construiu meios para manter uma postura anti-racista dentro de um sistema estruturalmente racista. O ensaio toma as perspectivas dos Estudos da Performance e da Exunêutica, para descrever as performances dos(as) candidatos(as) e as práticas em danças afro-brasileiras, cuja lógica destoa profundamente das danças acadêmicas, assentadas em modelos racionalistas de sistematização e difusão. Dentre esses princípios, identificou-se que a conexão com a ancestralidade é um dos elementos basilares da perspectiva afrocentrada. A escrita explicita o concurso como encruzilhada, na qual a banca construiu uma conduta em que os papeis de etnógrafos(as) e avaliadores(as) se sobrepunham, na medida em que o exercício de escuta e de definição de critérios se teciam. O artigo conclui que este concurso constituiu-se numa situação exemplar em que os critérios acadêmicos precisaram ser readequados para acolher a epistemodiversidade