Garota de Mitilene

A proposta é uma abordagem de "Garota de Ipanema" de Jobim e Vinicius e de um poema de Safo, "Ode a Anactória" (século VII a.C.), que abriga um verso que diz, literalmente: "Esse modo de andar que desperta o desejo". E aí, aproveitando a deixa, desenvolvo um cotejo entre outros fragmentos de Safo e essa canção paradigmática da MPB, datada de 1962. Trata-se de um contraponto com 27 séculos de permeio e que - por maior que seja o cuidado em respeitar a historicidade do afeto (e não cometer anacronismos) - revela surpreendentes invariantes. Mas entre Safo e Jobim/Vinicius há Freud, ou melhor, Jensen, com a sua Gradiva - que tematiza, exatamente, o andar da mulher desejada. Por sua vez, o musicólogo Almir Chediak vê um paralelo entre o desenho melódico da partitura de "Garota de Ipanema" e as ondas do mar, no seu movimento de fluir e refluir; e no gráfico apresentado, de fato, delineia-se esse ritmo iconizado. Efetivamente, a onda, o passo ondulante, o ritmo, o tema, "o doce balanço, caminho do mar": tudo converge nessa brasileiríssima canção, que patenteia, no entanto, tão instigantes recorrências com a lírica grega arcaica.

Non-neoplastic bulky mediastinal mass presentation in an adolescent patient: a case report

Abstract : Introduction Mediastinal masses in pediatric patients are very heterogeneous in origin and etiology. In the first decade of life, 70% of the mediastinal masses are benign whereas malignant tumors are more frequent in the second decade of life. Among the mediastinal masses, lymph nodes are the most common involved structures and could be enlarged due to a lymphoma, leukemia, metastatic disease, or due to infectious diseases as sarcoidosis, tuberculosis and others. Case presentation. We report a case of a 13-year-old Caucasian girl who came to the emergency room with a history of intermittent fever, weight loss and night sweating for at least 1 month. A radiologic image work-up presented an anterior and posterior mediastinal mass. The 18F-fluorodeoxyglucose positron emission tomography presented a high maximum standard uptake value, which directed our decision for mediastinal biopsy for diagnostic elucidation. Histologic examination described the mass as granulomatous tuberculosis. The patient was treated with anti-tuberculosis therapy and developed a full clinical recovery. Conclusions . The present case report demonstrates that a bulky mediastinal lymphadenopathy detected on 18F-fluorodeoxyglucose positron emission tomography is not always a malignant lesion, and in countries where tuberculosis is endemic, this etiology should not be forgotten during clinical investigations. There is a need for more accurate cut-off values for this technology; meanwhile, the further investigation of patients with bulky mediastinal masses with procedures such as the open biopsy is indispensable.

Ni una más. International cooperation against gender-based discrimination: the femicide case in Ciudad Juárez, Chihuahua, Mexico

The femicide in Ciudad Juárez is a story made of extreme violence against women for different reasons, by different actors, under different circumstances, and following different behavioural patterns. All within a gender discrimination frame based on the idea that women are inferior, interchangeable and disposable according to the patriarchal hierarchy still present in Mexico, but strongly reinforced by a sort of conspiracy of silence provoked either by the high impunity rate, the governmental incompetence to solve the crimes, or the general indifference of the population. It is the story of hundreds of kidnapped, raped, in many cases tortured, and murdered young women in the border between Mexico and the United States. The murders first came into light in 1993 and up to now young women continue to “disappear” without any hope of bringing the perpetrators to justice, stopping impunity, convicting the assassins, and bringing justice to the families of the deceased girls and women. The main questions about femicide in Ciudad Juárez seem to be: why were they brutally assassinated?, why most of the crimes have not been solved yet?, why and how is Ciudad Juárez different from other border cities with the same characteristics?, which powers are behind those crimes in a city that implies mainly women as its labor force, and which has the lowest unemployment rate in the whole country? But there are also many other questions dealing more with the context, the Juarences’ lifestyles, the eventual hidden powers behind the crimes, the possible murderers’ reasons, the response of the local civil society, or the international community actions to fight against femicide there, among many other things, that are still waiting for an answer and that this paper will ‘narrate’ in order to provide a holistic panorama for the readers. But above all there is the need to remember that every single woman or girl assassinated there had a name, an identity, a family, a story to be told time after time and as many times as necessary, in order to avoid accepting these crimes just as statistics, as cold numbers that might make us forget the human tragedy that has been flagellating the city since 1993. We must remember as well that their deaths express gender oppression, the inequality of the relations between what is male and what is female, a manifestation of domination, terror, social extermination, patriarchal hegemony, social class and impunity. The city is the perfect mirror where all the contradictions of globalization get reflected. It is there where all the globalization evils are present and survive by sucking their women’s blood. It is a city where some concepts such as gender, migration and power are closely related with a negative connotation.

Genetica molecolare dell'autismo: studi di associazione ed analisi di geni candidati

Autism is a neurodevelpmental disorder characterized by impaired verbal communication, limited reciprocal social interaction, restricted interests and repetitive behaviours. Twin and family studies indicate a large genetic contribution to ASDs (Autism Spectrum Disorders). During my Ph.D. I have been involved in several projects in which I used different genetic approaches in order to identify susceptibility genes in autism on chromosomes 2, 7 and X: 1)High-density SNP association and CNV analysis of two Autism Susceptibility Loci. The International Molecular Genetic Study of Autism Consortium (IMGSAC) previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we evaluated the patterns of linkage disequilibrium (LD) and the distribution of haplotype blocks, utilising data from the HapMap project, across the two strongest peaks of linkage on chromosome 2 and 7. More than 3000 SNPs have been selected in each locus in all known genes, as well as SNPs in non-genic highly conserved sequences. All markers have been genotyped to perform a high-density association analysis and to explore copy number variation within these regions. The study sample consisted of 127 and 126 multiplex families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Association and CNV analysis implicated several new genes, including IMMP2L and DOCK4 on chromosome 7 and ZNF533 and NOSTRIN on the chromosome 2. Particularly, my contribution to this project focused on the characterization of the best candidate gene in each locus: On the AUTS5 locus I carried out a transcript study of ZNF533 in different human tissues to verify which isoforms and start exons were expressed. High transcript variability and a new exon, never described before, has been identified in this analysis. Furthermore, I selected 31 probands for the risk haplotype and performed a mutation screen of all known exons in order to identify novel coding variants associated to autism. On the AUTS1 locus a duplication was detected in one multiplex family that was transmitted from father to an affected son. This duplication interrupts two genes: IMMP2L and DOCK4 and warranted further analysis. Thus, I performed a screening of the cohort of IMGSAC collection (285 multiplex families), using a QMPSF assay (Quantitative Multiplex PCR of Short fluorescent Fragments) to analyse if CNVs in this genic region segregate with autism phenotype and compare their frequency with a sample of 475 UK controls. Evidence for a role of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family. 2)Analysis of X chromosome inactivation. Skewed X chromosome inactivation (XCI) is observed in females carrying gene mutations involved in several X-linked syndromes. We aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 164 affected girls. The study sample included families from different european consortia. I analysed the XCI inactivation pattern in a sample of italian mothers from singletons families with ASD and also a control groups (144 adult females and 40 young females). We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (≥80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z score of 1.75 close to rs719489. In this region FMR1 and MECP2 have been associated in some cases with austim and therefore represent candidates for the disorder. I performed a mutation screen of MECP2 in 33 unrelated probands from IMGSAC and italian families, showing XCI skewness. Recently, Xq28 duplications including MECP2, have been identified in families with MR, with asymptomatic carrier females showing extreme (>85%) skewing of XCI. For these reason I used the sample of probands from X-skewed families to perform CNV analysis by Real-time quantitative PCR. No duplications have been found in our sample. I have also confirmed all data using as alternative method the MLPA assay (Multiplex Ligation dependent Probe Amplification). 3)ASMT as functional candidate gene for autism. Recently, a possible involvement of the acetylserotonin O-methyltransferase (ASMT) gene in susceptibility to ASDs has been reported: mutation screening of the ASMT gene in 250 individuals from the PARIS collection revealed several rare variants with a likely functional role; Moreover, significant association was reported for two SNPs (rs4446909 and rs5989681) located in one of the two alternative promoters of the gene. To further investigate these findings, I carried out a replication study using a sample of 263 affected individuals from the IMGSAC collection and 390 control individuals. Several rare mutations were identified, including the splice site mutation IVS5+2T>C and the L326F substitution previously reported by Melke et al (2007), but the same rare variants have been found also in control individuals in our study. Interestingly, a new R319X stop mutation was found in a single autism proband of Italian origin and is absent from the entire control sample. Furthermore, no replication has been found in our case-control study typing the SNPs on the ASMT promoter B.

The Perception of American Adolescent Culture Through the Dubbing and Fansubbing of a Selection of US Teen Series from 1990 to 2013

The present dissertation aims at analyzing the construction of American adolescent culture through teen-targeted television series and the shift in perception that occurs as a consequence of the translation process. In light of the recent changes in television production and consumption modes, largely caused by new technologies, this project explores the evolution of Italian audiences, focusing on fansubbing (freely distributed amateur subtitles made by fans for fan consumption) and social viewing (the re-aggregation of television consumption based on social networks and dedicated platforms, rather than on physical presence). These phenomena are symptoms of a sort of ‘viewership 2.0’ and of a new type of active viewing, which calls for a revision of traditional AVT strategies. Using a framework that combines television studies, new media studies, and fandom studies with an approach to AVT based on Descriptive Translation Studies (Toury 1995), this dissertation analyzes the non-Anglophone audience’s growing need to participation in the global dialogue and appropriation process based on US scheduling and informed by the new paradigm of convergence culture, transmedia storytelling, and affective economics (Jenkins 2006 and 2007), as well as the constraints intrinsic to multimodal translation and the different types of linguistic and cultural adaptation performed through dubbing (which tends to be more domesticating; Venuti 1995) and fansubbing (typically more foreignizing). The study analyzes a selection of episodes from six of the most popular teen television series between 1990 and 2013, which has been divided into three ages based on the different modes of television consumption: top-down, pre-Internet consumption (Beverly Hills, 90210, 1990 – 2000), emergence of audience participation (Buffy the Vampire Slayer, 1997 – 2003; Dawson’s Creek, 1998 – 2003), age of convergence and Viewership 2.0 (Gossip Girl, 2007 – 2012; Glee, 2009 – present; The Big Bang Theory, 2007 - present).

De Hiel y de Miel di Patxi Zubizarreta. Proposta di traduzione dallo spagnolo all'italiano

Selim, a 15 year-old boy, lives with the desire to leave Morocco in order to get to Europe, and more precisely to Paris, land of dreams and opportunities. However, unfortunately, Selim will face himself with a hostile and dangerous world and the future awaiting for him will be very different from the one he had always imagined for himself. During his journey, he will go through both positive and negative experiences: he will fall in love with Esther, a Spanish girl from Vitoria, but he will also discover the harshness of the Western world. This paper provides a translation of the Spanish novel De hiel y de miel, written by the Basque author Patxi Zubizarreta and first published in Spain in 1995. In the first chapter, we find the presentation of the author and his book, including a detailed analysis of the main features of the novel. The second chapter is the focal point of the paper as it presents a translation of the novel. Finally, the third and last chapter focuses on the problems that arose during the translation process and how these were solved by the translator.

When Beauty Goes to Sleep: an analysis of the symbolism behind the sleeping beauty tale

Approaching the world of the fairy tale as an adult, one soon realizes that things are not what they once seemed during story time in bed. Something that once appeared so innocent and simple can become rather complex when digging into its origin. A kiss, for example, can mean something else entirely. I can clearly remember my sister, who is ten years older than I am, telling me that the fairy tales I was told had a mysterious hidden meaning I could not understand. I was probably 9 or 10 when she told me that the story of Sleeping Beauty, which I used to love so much in Disney’s rendering, was nothing more than the story of an adolescent girl, with all the necessary steps needed to become a woman, the bleeding of menstruation and the sexual awakening - even though she did not really put it in these terms. This shocking news troubled me for a while, so much so that I haven’t watched that movie since. But in reality it was not fear that my sister had implanted in me: it was curiosity, the feeling that I was missing something terribly important behind the words and images. But it was not until last year during my semester abroad in Germany, where I had the chance to take a very interesting English literature seminar, that I fully understood what I had been looking for all these years. Thanks to what I learned from the work of Bruno Bettelheim, Jack Zipes, Vladimir Propp, and many other authors that wrote extensively about the subject, I feel I finally have the right tools to really get to know this fairy tale. But what I also know now is that the message behind fairy tales is not to be searched for behind only one version: on the contrary, since they come from oral traditions and their form was slowly shaped by centuries of recountals and retellings, the more one digs, the more complete the understanding of the tale will be. I will therefore look for Sleeping Beauty’s hidden meaning by looking for the reason why it did stick so consistently throughout time. To achieve this goal, I have organized my analysis in three chapters: in the first chapter, I will analyze the first known literary version of the tale, the French Perceforest, and then compare it with the following Italian version, Basile’s Sun, Moon, and Talia; in the second chapter, I will focus on the most famous and by now classical literary versions of Sleeping Beauty, La Belle Au Bois Dormant, written by the Frenchman, Perrault, and the German Dornröschen, recorded by the Brothers Grimm’s; finally, in the last chapter, I will analyze Almodovar’s film Talk to Her as a modern rewriting of this tale, which after a closer look, appears closely related to the earliest version of the story, Perceforest.

Air within the spinal canal in spontaneous pneumomediastinum

Spontaneous pneumomediastinum is an uncommon benign condition that is occasionally associated with air within the spinal canal. We describe a further case in a 14-year-old girl and suggest a classification system based on a detailed review of the previous literature. Forty-eight patients with spontaneous pneumomediastinum and intraspinal air accumulation (36 men and 12 women, age range 4-72 years, median age 18 years) were grouped into those with underlying lung disease (n = 13), those with other underlying etiologic factors (n = 22), and those arising spontaneously (n = 13). Neurologic symptoms or signs were noted in one case. The remaining cases were successfully managed conservatively. In spontaneous pneumomediastinum, accumulation of air within the spinal canal is self-limiting and benign. The same management is advised in spontaneous pneumomediastinum with and without intraspinal air accumulation.

Postural proteinuria associated with left renal vein entrapment: a follow-up evaluation

Imaging studies show entrapment of the left renal vein in the fork between the aorta and proximal superior mesenteric artery in most cases of isolated postural proteinuria. Therefore, it has been postulated that partial obstruction to the flow in the left renal vein in the upright position is a cause of this form of proteinuria. In a girl with isolated postural proteinuria, kidney ultrasonic imaging and Doppler flow scanning showed left renal vein entrapment. Seven years later, a new evaluation showed resolution of both postural proteinuria and left renal vein entrapment. The longitudinal observation provides substantial additional support for entrapment of the left renal vein by the aorta and superior mesenteric artery as a cause of isolated postural proteinuria.

Fatal Left Ventricular Rupture and Pericardial Tamponade Following a Horse Kick to the Chest

ABSTRACT: Horse kicks are rare incidents-especially, if they end in fatality. In this case, a 13-year-old girl collapsed 3 minutes after sustaining a kick to the chest from a pony. Resuscitation attempts were unsuccessful. Postmortem computed tomography and magnetic resonance imaging were performed before autopsy.Imaging revealed a 3-cm long laceration of the left ventricle and a large pericardial effusion. Using segmentation techniques, the amount of blood inside the pericardium was determined. These findings correlated well with the autopsy findings. Pericardial tamponade was determined at autopsy to be the cause of death.Postmortem imaging may prove useful for the diagnosis of these types of injury, but further studies are needed to document accuracy.

Fatal pulmonary embolism in a premature neonate after twin-to-twin transfusion syndrome

Thrombotic events are being increasingly recognized during the neonatal period. An infant girl was born at 29 weeks' gestation after a pregnancy complicated by twin-to-twin transfusion syndrome. After an initial uncomplicated clinical course, her oxygen requirement increased, which was interpreted as an early sign of bronchopulmonary dysplasia. At 3 weeks of age, she suddenly collapsed and died of severe pulmonary hypertension. At autopsy, multiple pulmonary artery emboli and several older renal vein thromboses were found. Results of genetic analyses of the infant and her family were negative for thrombophilia. Although embolism represents a frequent emergency in adults, fatal pulmonary embolism has never, to our knowledge, been described for premature infants. This case suggests that thrombotic events are underdiagnosed and that additional studies are needed to define infants at risk and optimal treatment strategies.

Paediatric traffic accident and obstructive sleep apnoea by antrochoanal polyps: case report and literature review

Antrochoanal polyps are hyperplasias of the nasal mucosa, which have their origin in the maxillary sinus and extend through the nasal cavity and the choanae into the naso- and oropharynx. In children antrochoanal polyps represent one of the more frequent manifestations of paediatric nasal polyposis. Most studies on antrochoanal polyps in children report only on nasal obstruction, hyponasal speech and snoring, which are also encountered in the most common cause of obstructive sleep apnoea syndrome; i.e. adenoid or tonsillar hyperplasia. Only very few studies report on additional health hazards by antrochoanal polyps ranging from obstructive sleep apnoea syndrome to swallowing disorders and cachexia. We present the case of an 8 year old girl with a bicycle accident caused by excessive daytime sleepiness and obstructive sleep apnoea syndrome due to an extensive antrochoanal polyp. After a transnasal polypectomy and meatotomy type II the obstructive sleep apnoea and day time sleepiness resolved completely. Awareness of this additional health hazard is important and correct evaluation and timely diagnosis of a potential antrochoanal polyp is mandatory because minimally invasive rhinosurgery is highly curative in preventing further impending problems.

Eculizumab in atypical hemolytic uremic syndrome: long-term clinical course and histological findings

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy associated with defective regulation of the alternative complement pathway. The prognosis for patients with aHUS is poor, and plasma exchange represents the first-line therapy. Eculizumab is a humanized monoclonal anti-C5 antibody that prevents the activation of the terminal complement pathway. Here, we report the case of a 9-year-old girl with frequent relapsing aHUS due to heterozygous factor H mutation who was initially treated with plasma exchange three times per week with 150% plasma exchange volume. This treatment frequently caused allergic reactions and school absences. Because any reduction in the frequency of plasma exchange immediately induced relapses of the aHUS, treatment with eculizumab, 600 mg every 2 weeks, was started and plasma exchange completely stopped. On this drug regimen the patient showed no evidence of disease activity during a period of more than 24 months. Renal function improved, proteinuria disappeared, the number of antihypertensive medications could be decreased, and the quality of life increased substantially. The inhibition of the terminal complement pathway by eculizumab was also confirmed by renal biopsy, which showed the absence of thrombotic microangiopathy 2 months after the initiation of eculizumab therapy. This case illustrates the long-term favorable outcome of aHUS with eculizumab treatment.

Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis

Adrenocortical tumors are rare in children and present with variable signs depending on the type of hormone excess. We herein describe the unusual presentation of a child with adrenocortical tumor and introduce the concept of in vitro chemosensitivity testing. CASE REPORT: A 10.5-year-old girl presented with hypertrichosis/hirsutism and weight loss. The weight loss and behavioral problems, associated with halted puberty and growth, led to the initial diagnosis of anorexia nervosa. However, subsequent weight gain but persisting arrest in growth and puberty and the appearance of central fat distribution prompted further evaluation. RESULTS AND FOLLOW-UP: 24h-urine free cortisol was elevated. Morning plasma ACTH was undetectable, while cortisol was elevated and circadian rhythmicity was absent. Thus a hormonally active adrenal cortical tumor (ACT) was suspected. On magnetic resonance imaging (MRI) a unilateral, encapsulated tumor was found which was subsequently removed surgically. Tissue was investigated histologically and for chemosensitivity in primary cell cultures. Although there were some risk factors for malignancy, the tumor was found to be a typical adenoma. Despite this histology, tumor cells survived in culture and were sensitive to cisplatin in combination with gemcitabine or paclitaxel. At surgery, the patient was started on hydrocortisone replacement which was unsuccessfully tapered over 3 months. Full recovery of the hypothalamus-pituitary-adrenal axis occurred only after 3 years. CONCLUSIONS: The diagnosis of a hormonally active adrenocortical tumor is often delayed because of atypical presentation. Cortisol replacement following unilateral tumor excision is mandatory and may be required for months or years. Individualized chemosensitivity studies carried out on primary cultures established from the tumor tissue itself may provide a tool in evaluating the effectiveness of chemotherapeutic drugs in the event that the adrenocortical tumor may prove to be carcinoma.

An unusual cause of paralysis of the peroneal nerve: a report of 3 cases

We present 3 cases of a 12-year-old boy, an 8-year-old girl, and a 9-year-old boy with progressive paresis of the peroneal nerve. Peroneal intraneural ganglia are a rare cause of paralysis of the lower limb in children; more often these symptoms occur because of exostosis. Ultrasound imaging in both patients showed a cystic mass near the fibular neck. Magnetic resonance imaging examination revealed that the ganglion is communicating with the proximal tibiofibular joint. Surgical exploration in these patients confirmed a cystic formation involving the common peroneal nerve. The ganglion originates from the articular nerve branch to the proximal tibiofibular joint. Total recovery of nerve function was seen 2 years later for the first patient, whereas the other 2 showed immediate postoperative improvement of peroneal nerve function and complete recovery within 6 to 8 weeks. On the other hand, patients with exostosis showed varying outcomes. In children with symptoms suspicious of nerve compression, fast diagnosis and immediate treatment are necessary to ensure the best possible recovery.