1,221 research outputs found
Emicizumab in Type 3 von Willebrand Disease: Report of a Case with an Alloantibody and Literature Review
No full textType 3 von Willebrand disease (VWD), the most severe form of VWD, is an inherited recessive bleeding disorder caused by the complete deficiency of von Willebrand factor (VWF). The reported prevalence is 1 per million but varies worldwide according to the frequency of consanguineous marriages. The clinical phenotype is characterized not only by mucocutaneous bleedings, but also by hemarthroses and muscle hematoma, as in patients with moderate hemophilia. Long-term prophylaxis with factor (F)VIII/VWF concentrates is recommended in patients with a history of severe and frequent bleeds. A rare complication of replacement therapy is the development of alloantibodies against VWF, with the consequences of an ineffective therapy and risk of anaphylactic reactions upon treatment. Emicizumab is the first bispecific monoclonal antibody that mimics FVIII coagulant activity and is approved for prophylaxis of bleeding in patients with inherited hemophilia A with or without inhibitors and recently also for acquired hemophilia. In this manuscript we report and discuss available data in the literature on the use of emicizumab in type 3 VWD and describe the case of a female patient with type 3 VWD with a history of alloantibodies against VWF and posttransfusion anaphylaxis, recently and successfully put on off-label prophylaxis with emicizumab
First person – Simona Amodeo
No full textABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Journal of Cell Science, helping early-career researchers promote themselves alongside their papers. Simona Amodeo is the first author on ‘Characterization of the novel mitochondrial genome replication factor MiRF172 in Trypanosoma brucei’, published in Journal of Cell Science. Simona is a PhD student in the lab of Torsten Ochsenreiter at the Institute of Cell Biology, University of Bern, Switzerland, investigating mitochondrial genome anchoring, replication and inheritance in Trypanosoma brucei.</jats:p
How I treat gastrointestinal bleeding in congenital and acquired von Willebrand disease
No full textGastro-intestinal (GI) bleeding is distinctive of severe von Willebrand disease (VWD). It arises generally in older patients, requiring in most cases blood transfusion and hospitalization. The presence of arteriovenous malformations is often described when endoscopic examinations are performed. Patients with congenital type 3, 2A and 2B are those most frequently affected by this symptom, possibly due to the loss of high-molecular-weight multimers (HMWM) of von Willebrand factor (VWF). GI bleeding can also occur in patients affected by the acquired von Willebrand syndrome (AVWS). Endoscopic examination of the GI tract is necessary to exclude ulcers and polyps or cancer as possible causes of GI bleeding. In case of congenital VWD, prophylaxis with VWF/(factor VIII, FVIII) concentrates is generally started after the GI bleeding events, but this therapy is not always successful. Iron supplementation must be prescribed to avoid chronic iron-deficiency. Possible rescue therapies (high dose statins, octreotide, thalidomide, lenalinomide and tamoxifen) were described in few case-reports and series, while surgery may be necessary in emergency or in case of failure of the medical treatment to stop bleeding. In this article we present a few clinical cases that highlight the clinical challenges of these patients and possible strategies for their long-term management
Materiali e discussioni per l'analisi dei testi classici. Indici 1-60
No full textIl volume raccoglie e riassume tutti gli articoli apparsi nei volumi 1-60 della rivista «Materiali e discussioni per l’analisi dei testi classici» («MD»), nel periodo compreso tra il 1978 e il 2008. Esso è diviso in tre parti. Nella prima sono riportati in successione i singoli numeri della rivista, con il relativo sommario. Nella seconda compaiono gli articoli riuniti in sequenza cronologica, sotto il nome dell’Autore e ognuno con un proprio numero d’ordine: di ogni articolo è fornito il sunto, con i concetti, le argomentazioni salienti, i principali luoghi discussi. Nella terza parte sono elencati gli Autori antichi e i Nomi e parole notevoli, con il rinvio al numero d’ordine dell’articolo. Le schedature dei numeri 1-30 sono curate da Andrea Cucchiarelli, quelle dei numeri 31-60 da Simona Fortini.The volume collects and summarizes all the articles published in Volumes 1-60 of the journal "Materiali e discussioni per l’analisi dei testi classici” ("MD"), in the period between 1978 and 2008. It is divided into three parts. In the first part the individual issues of the journal are summarized with the table of contents. In the second part the articles appear in chronological order, under the name of the author and each with its own serial number: each item is provided with a summary including the main points of argumentation and the loci discussed. The third part contains the indexes of the ancient authors, of the names and of the most relevant things and words, with reference to the number of the item. The profiling of the numbers 1-30 is cared for by Andrea Cucchiarelli, those of the numbers 31-60 by Simona Fortini
Post-partum haemorrhage in women with rare bleeding disorders
No full textPost-partum hemorrhage (PPH) accounts for a substantial fraction of maternal deaths in the general population. Among all women, however, those affected with rare bleeding disorders (RBDs) represent a particular group since to usual bleeding symptoms, they are likely to experience bleedings associated to obstetrical and gynaecological problems. Pregnancy and childbirth, two important stages in the life of a woman, pose a special clinical challenge in women with RBDs, since information about these issues are really scarce and limited to few case reports. These data show that all women with RBDs, except for FXI deficiency, have to be considered potentially at risk for developing PPH, therefore they should be monitored carefully during and immediately after pregnancy. The implication is that women with bleeding disorders may require prophylaxis and/or close observation for several weeks and should be followed by a multidisciplinary team including expertises such as laboratory haematologist, obstetrician-gynaecologist, anaesthesiologist, family physician, and laboratory technicia
Boccaccio nel Seicento: censure e recuperi della "compassione"
No full textSIMONA MORANDO, Boccaccio in the sixteenth century: censorship and recovery ofthe «compassion»
In the introduction of this paper, the literature of the seventeenth century is defined as a writing of compassion but not of consolation (quotations from Giovanni Cisano, Torquato Accetto, Emanuele Tesauro, G. B. Marino). The distance between the
writers studied here and Boccaccio is due to the censored editions of the Decameron in sixteenth century, to the censorship of Boccaccio as a «maestro d’amore», to his unrefined language, to his interpretation by many critics as a light and burlesque author. But, as reported in a writing by Boccalini, Boccaccio’s Latin works are very much appreciated in seventeenth century literature. This is especially the case of De casibus virorum illustrium, a gloomy and pessimistic book about misfortunes of famous men and about compassion, which nevertheless believes in the ability of letters to give back fame to ruined men. As shown in the conclusion
through some writings by Tassoni, many other seventeenth century authors do not have this kind of hope
Recurrent Bleedings in Newborn: A Factor VII Deficiency Case Report
No full text<b>Background: </b>Major hemorrhages in newborns can be caused by several conditions, and knowledge of the differential diagnosis is essential in order to ensure prompt recognition and appropriate treatment. <b>Case Report: </b>We describe the case of a male newborn experiencing recurrent hemorrhages from the first days of life. Laboratory findings showed normal platelet count, hepatic function, and C-reactive protein. Coagulation tests detected an isolated prothrombin time (PT) prolongation and severe factor VII (FVII) deficiency. <b>Conclusion: </b>Inherited FVII deficiency is a rare autosomal recessive bleeding disorder. Clinical presentation is heterogeneous, and bleeding severity is not directly related to FVII levels. Acute bleeding episodes can be treated with human plasma-derived FVII (pdFVII) or recombinant activated FVII (rFVIIa). In case of severe deficiency, prophylaxis must be evaluated. Awareness of this condition is crucial in order to establish prompt diagnosis and treatment.</jats:p
Inherited bleeding disorders in pregnancy : rare coagulation factor defects
No full textInherited deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders. Rare bleeding disorders (RBDs), discussed in this chapter, represent 3–5 % of all the inherited coagulation deficiencies, with prevalence ranging from approximately 1:500,000 to 1:2,000,000 in the general population. Patients affected with bleeding disorders present a wide spectrum of clinical symptoms that vary from a mild or moderate bleeding tendency to severe episodes. Women with inherited bleeding disorders are particularly disadvantaged since, in addition to suffering from general bleeding symptoms, they are also at risk of bleeding complications from regular haemostatic challenges: menstruation, pregnancy and childbirth. Moreover, affected women may experience reduced quality of life caused by limitations in activities and work, and the impact on their reproductive life. Management of women with RBDs is difficult because of considerable inter-individual variation. Furthermore, reliable information on clinical management is scarce, with only a few long-term prospective studies of large cohorts providing evidence to guide diagnosis and treatment
Le chiavi del Paradiso. Primato petrino e devozione mariana di Sisto IV tra Cappella Sistina e S. Maria della Pace
No full textIl volume è strutturato in due parti distinte con una postfazione, un indice dei nomi e n. 55 Tavole a colori fuori testo, valide per entrambe le parti del volume. I. PARTE (di Lorenzo Cappelletti) A partire dalla esplicita indicazione che l’ignoto architetto, collocato sul fianco destro dell’affresco sistino della Consegna delle chiavi di Perugino, fa dell’edificio a pianta centrale che campeggia sullo sfondo, viene operata una completa rilettura iconografica e iconologica dell’intero affresco. Tenendo conto di tutta la migliore bibliografia sul tema e grazie anche alla considerazione di fonti inedite o mai considerate in relazione a tale affresco –– vengono riletti in particolare i due episodi evangelici sullo sfondo, la teoria dei dodici apostoli e dei personaggi dell’attualità di fine Quattrocento e soprattutto il gesto della consegna delle chiavi a Simon Pietro da parte di Gesù.
La rilettura si allarga necessariamente anche alla Punizione di Core, Datan e Abiram, l’affresco di Botticelli posto in chiave tipologica dirimpetto alla Consegna delle chiavi, e alla serie dei 30/32 papi affrescati nel cleristorio.
Lo studio non manca di offrire inoltre spunti per una comprensione più adeguata anche degli altri affreschi quattrocenteschi della sistina. II PARTE (di Simona Benedetti) Nell’ambito della revisione di lettura iconologica e iconografica dell’affresco della Consegna delle chiavi di Perugino nella Cappella Sistina, svolta da Lorenzo Cappelletti, si torna a riflettere anche sul significato dell’architettura dell’edificio rappresentato al centro dell’affresco. In questo senso nel contributo di Simona Benedetti, in primo luogo, si ripercorrono i riferimenti alla trattatistica quattrocentesca in materia di edifici sacri, che possono aver influito nella determinazione dell’edificio ottagonale.
In seconda istanza, si considerano le principali fabbriche a pianta ottagonale costruite precedentemente all’edificio dipinto, che possono aver costituito un fondato riferimento per il Perugino nella Consegna delle chiavi.
In particolare tra le architetture, che possono avere avuto un’influenza determinante nella definizione iconografica della fabbrica ottagonale presente nell'affresco, la chiesa di S. Maria della Pace è quella su cui si concentra il presente studio. L'opera si realizzò nel cuore pulsante della Roma rinascimentale proprio contemporaneamente all’affresco in esame, con esso trova degli innegabili punti di tangenza e corrispondenze, sia storiche che figurative. A questo riguardo interessantissima risulta la connessione tra il motivo dell’edificazione della fabbrica e i fatti storici, i personaggi, gli eventi prodigiosi e le pratiche devozionali, che condizionarono lo svolgersi del cantiere del Templum Pacis negli ultimi anni del pontificato di Sisto IV. La storicità del gesto della consegna delle chiavi a Pietro - avvenimento che si protrae nel tempo ad ogni elezione pontificia nello spazio fisico della Cappella Sistina - costituisce la centralità del messaggio iconografico dell'affresco del Perugino in cui, anche l’architettura, insieme ai personaggi rappresentati, strutturano una narrazione reale, estranea alle simbologie decontestualizzate dall’epoca propriamente sistina. Segue una postfazione di Francesco Andreani dal titolo Enigma del Quattrocento, saggio nel quale si sviluppano considerazioni sulle personalità degli architetti e maestranze attive nella Roma del tardo Quattrocento e negli anni di inizio della fabbrica di S. Maria della Pace. Il volume si conclude con l'indice dei nomi (a cura di Gemma Fusciello)I (of Lorenzo Cappelletti) Starting from the unknown architect’s forefinger pointed to the central plan building found in the background of the Sistine Perugino’s fresco The Keys of the Kingdom of Heaven, the author offers a new interpretation of the entire fresco at both an iconographical and iconological level.
Having considered the most important studies about this fresco and taking into account a number of unpublished and unconsidered sources, the author rereads in particular the meaning of the central plan building, as well as the two Gospel episodes in the background; and he rereads also the grouping of the Twelve, along with the fifteenth century historical personages painted among them, in the foreground.
The author’s vision necessarily broodens also to comprehend Botticelli’s fresco named The Punishment of Corah, Dathan and Abiram which is placed on the opposite wall as a typological prefiguration of The Keys of the Kingdom of Heaven; and it broodens moreover to reconsider the series of 30/32 popes frescoed in the upper register of the Sistine Chapel.
The essay also offers hints for a more complete comprehension of the other fifteenth century frescoes of the Sistine Chapel.
II. (of Simona Benedetti) As part of the review of iconological and iconographic reading about the fresco of the “Delivery of the keys” by Perugino in the Sistine Chapel, conducted by Lorenzo Cappelletti, you go back and think about the significance of the building architecture depicted in the center of the fresco. In this sense, the contribution of Simona Benedetti, first, retraces the references to the fifteenth-century treatises concerning sacred buildings, which may have affected the determination of the octagonal building. Secondly, we consider the main factories octagonal building constructed previously painted, that may have been an established reference for the Perugino in the “Delivery of the keys”. Especially between architectures, which may have had a decisive influence in defining the iconographic factory octagonal present in the fresco, the church of St. Mary of Peace is the one on which this study focuses. The work was realized in the heart of Renaissance Rome just simultaneously fresco concerned, although it is undeniable points of contact and correspondence, both historical and figurative. In this regard are interesting connections between the reason of building the factory, the historical facts, the characters and the miraculous events and devotional, which has conditioned the unfolding of the construction site of the Templum Pacis in the last years of the pontificate of Sixtus IV. The historicity of the act of handing over the keys to Peter, that continues over time in the physical space of the Sistine Chapel, is the centrality of the iconographic message of the fresco by Perugino; so even the architecture, along with the characters represented, the real narrative structure, far from to the symbolism belonging to the Sistine period properly
Playing with autism. Encountering Simona Concaro by her music. Vol. 1.1
No full textPlaying with Autism contains twenty-four original pieces for piano, recorded and carefully transcribed in current music notation by Pierluigi Politi and Hanna Shybayeva. Simona Concaro, the author, is a young woman suffering of low-functioning autism. She lives in Cascina Rossago, a farm-community, designed to meet the needs of people with autism, in Oltrepo pavese (Italy).
Since she was three, Simona Concaro has created original compositions on piano, instrument she learned by herself, refusing any kind of musical education. In everyday life, Simona does not use verbal language and has low autonomy. Her music, on the contrary, contains interesting features – melodic, rhythmic and harmonic –, even in the presence of some iterative elements, typical of the autistic spectrum
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