Encontro com Pierre Boulez

Quando do Encontro com Pierre Boulez, realizado no auditório do Departamento de Música da ECA-USP em 23 de outubro de 1996, as respostas do compositor, intérprete e pensador francês às quatro perguntas - formuladas por: Marcos Branda Lacerda, Luís Antônio Giron, Haroldo de Campos e Décio Pignatari - foram traduzidas oralmente por Gilberto Tinetti e José Eduardo Martins. A convite do Departamento de Música, a Rádio Cultura-FM gravou o evento, tendo inclusive apresentado, no mês de dezembro de 1996, em quatro programas, parte das respostas de Pierre Boulez. A partir das gravações, preparou-se a tradução escrita, buscando-se ao máximo desvinculá-la do sentido literário, guardando sim, na medida do possível, a espontaneidade do discurso. Torna-se necessária esta colocação, pois Pierre Boulez é detentor de uma das mais claras, objetivas e elegantes penas do pensar musical. As notas fazem-se presentes a fim de simplesmente trazer subsídio complementar - sobremaneira na especificidade extramusical - ao histórico Encontro. A Revista Música agradece à Sociedade de Cultura Artística, co-realizadora do evento

Pierre Boulez – Écriture musicale et accident

La figure de Pierre Boulez, compositeur majeur de l’après-guerre, puis chef d’orchestre de dimension internationale depuis les années soixante-dix, est celle d’un créateur qui s’est toujours penché sur sa création, et la création musicale en général. L’image sommaire qu’on a longtemps présentée de lui (un musicien-mathématicien, rationaliste, théoricien du « degré zéro de l’écriture musicale », planificateur dodécaphoniste de ses œuvres) semblait ne pas laisser place à celle d’un compositeur ..

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge during childhood. Hypogonadotropic Hypogonadism is often associated later in life and patients may develop azoospermia. We describe an unusual onset of AHC started with isolated hypoaldosteronism as first and only sign of the disease

The Evolution of Notational Innovations from the Mobile Score to the Screen Score

This article examines the evolution of music notational practices from avant-garde-era experiments in ‘mobility’ to the advent of the digital ‘screen score’. It considers the varied goals of the composers who initiated these developments and the dissonance between these goals and the practical possibilities actually afforded by the paper score. The advent of graphical computing is charted along with the consequent expansion of possibilities afforded by screening the score from a platform that also provides the potential for performer coordination, sound synthesis and transformation. The performative, interactive and formal implications of these possibilities are considered

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5)

BackgroundSteroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene, is a transcriptional factor crucial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance including disorders of sex development and oligospermia–azoospermia in 46,XY adults. Preservation of fertility remains challenging in these patients.ObjectiveThe aim was to offer fertility preservation at the end of puberty in an NR5A1 mutated patient.Case reportThe patient was born of non-consanguineous parents, with a disorder of sex development, a small genital bud, perineal hypospadias, and gonads in the left labioscrotal fold and the right inguinal region. Neither uterus nor vagina was detected. The karyotype was 46,XY. Anti-Müllerian hormone (AMH) and testosterone levels were low, indicating testicular dysgenesis. The child was raised as a boy. At 9 years old, he presented with precocious puberty treated by triptorelin. At puberty, follicle-stimulating hormone (FSH), luteinising hormone (LH), and testosterone levels increased, whereas AMH, inhibin B, and testicular volume were low, suggesting an impaired Sertoli cell function and a partially preserved Leydig cell function. A genetic study performed at almost 15 years old identified the new frameshift variant NM_004959.5: c.207del p.(Phe70Serfs*5) at a heterozygous state. He was thus addressed for fertility preservation. No sperm cells could be retrieved from three semen collections between the ages of 16 years 4 months and 16 years 10 months. A conventional bilateral testicular biopsy and testicular sperm extraction were performed at 17 years 10 months of age, but no sperm cells were found. Histological analysis revealed an aspect of mosaicism with seminiferous tubules that were either atrophic, with Sertoli cells only, or presenting an arrest of spermatogenesis at the spermatocyte stage.ConclusionWe report a case with a new NR5A1 variant. The fertility preservation protocol proposed at the end of puberty did not allow any sperm retrieval for future parenthood

Who are our nomads today?: Deleuze's political ontology and the revolutionary problematic

This paper will address the question of the revolution in Gilles Deleuze's political ontology. More specifically, it will explore what kind of person Deleuze believes is capable of bringing about genuine and practical transformation. Contrary to the belief that a Deleuzian program for change centres on the facilitation of 'absolute deterritorialisation' and pure 'lines of flight', I will demonstrate how Deleuze in fact advocates a more cautious and incremental if not conservative practice that promotes the ethic of prudence. This will be achieved in part through a critical analysis of the dualistic premises upon which much Deleuzian political philosophy is based, alongside the topological triads that can also be found in his work. In light of this critique, Deleuze's thoughts on what it is to be and become a revolutionary will be brought into relief, giving rise to the question of who really is Deleuze's nomad, his true revolutionary or figure of transformation

The Skin of Spectral Time in Grisey's Le Noir de l’Étoile

Following the aesthetics of pure continuity in the late 1970s, Grisey moved on to compose for unpitched percussion in Tempus ex Machina, focusing on pure rhythm. Shortly afterwards he elaborated on his theory of temporality in a talk and article of the same title; one decade later, he included Tempus as the first movement of Le Noir de l’Étoile. Grisey insisted on the significance of the perception of musical time, of the skin of time – as opposed to its skeleton or flesh. This article puts forward an interpretation of Grisey's thinking of temporality, drawing on concepts from French philosophy. It further provides an analysis of two sections of Le Noir, tracing these concepts in the structuring of musical time, with a view to providing a possible direction towards a re-definition of spectral time

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

Context: The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associated with primary adrenal insufficiency (PAI) as well as disorders of sex development (DSD) in 46,XY patients.Objective: To define the pathogenicity mechanism for the p.Glu314Lys variant, previously reported, and found in four additional patients with CYP11A1 deficiency.Subjects and Methods: DNA of four patients presenting with delayed PAI and/or 46,XY DSD were studied by Sanger or Massively Parallel sequencing. Three CYP11A1 mutations were characterized in vitro and in silico, and one by mRNA analysis on testicular tissue.Results: All patients were compound heterozygous for the previously described p.Glu314Lys variant. In silico studies predicted this mutation as benign with no effect on splicing but mRNA analysis found that it led to incomplete exon 5 skipping. This mechanism was confirmed by minigene experiment. The protein carrying this mutation without exon skipping should conserve almost normal activity, according to in vitro studies. Two other mutations found in trans, the p.Arg120Gln and p.Arg465Trp, had similar activity compared to negative control, consistent with the in silico studies.Conclusions: We provide biological proof that the p. Glu314Lys variant is pathogenic due to its impact on splicing and seems responsible for the moderate phenotype of the four patients reported herein. The present study highlights the importance of considering the potential effect of a missense variant on splicing when it is not predicted to be disease causing