11 research outputs found
Dépistage néonatal de l'hyperplasie congénitale des surrénales (évaluation du programme national dans les régions Pays de Loire et Poitou Charente)
No full textDIJON-BU Médecine Pharmacie (212312103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
311 Nonbacterial thrombotic (Libman-Sacks) endocarditis with mitral regurgitation in catastrophic antiphospholipid syndrome (a case study)
No full textAntiphospholipid syndrome (APS) is one of several prothrombotic states in which thrombi occur within both the venous and arterial beds. A minority of patients with APS present with an acute and devastating syndrome characterized by multiple simultaneous vascular occlusions throughout the body. “Catastrophic APS” is defined by the clinical involvement of at least three different organ systems over a period of days or weeks with histological evidence of multiple occlusions of large or small vessels. We report the case of a 16-year-old girl referred to our paediatric cardiology unit for NHYA IV and a blowing systolic murmur at the apex radiating to the left axilla. Transthoracic echocardiography (TTE) revealed mitral valve leaflet thickening with vegetations (13mm) on the edges of both leaflets and moderate mitral regurgitation (MR) (image 1). The diagnosis of Libman-Sacks or non-bacterial thrombotic endocarditis secondary to antiphospholipid syndrome was suggested by repeated negative blood cultures along with persistently elevated anticardiolipin antibody titers. The condition deteriorated to acute thrombotic microangiopathy affecting multiple organs with arterial hypertension and thrombocytopenia. Anticoagulation with warfarin was peformed and aspirin, corticosteroids and ACE inhibitors were given. TTE follow-up after 1.5 years revealed no recurrence of MR with normal mitral valve leaflets.ConclusionIn catastrophic APS an aggressive therapeutic approach is warranted. Valve lesions may become more severe during long term follow-up
Au cours du suivi à long terme des jeunes adultes diabétiques type 1 traités par pompe ou schéma basal-bolus, le tabagisme est associé à une HbA 1c significativement plus élevée comparé aux mêmes patients non-fumeurs
No full textInternational audienc
Quella verità che rende umani. Il canto edificante di Luigi Pirandello.
No full textQuesto studio intende riaffermare la valenza educativa dell’opera pirandelliana e contribuire a superare il misconoscimento che ancora grava su di essa.
Analizza alcune pagine in cui è possibile riconoscere l’intento edificante dell’autore e il suo impegno a cantarci di una verità che rende umani.
Il saggio di Pirandello Non parlo di me sembra fare luce su quel possesso umano che garantisce la possibilità radicale di poter guadagnare una verità per sé: il punto vivo.
Alcuni personaggi pirandelliani sembrano incarnare questa ricerca e mostrarne caratteristiche e criticità:
Il Principe de La favola del figlio cambiato, che afferma di averla trovata la sua verità;
Moscarda, il protagonista di Uno, nessuno e centomila, che ne ha una improvvisa rivelazione;
la Signora Frola e il Signor Ponza che testimoniano come la propria verità possa convivere con la verità dell’altro anche quando tra le due sia presente una contrapposizione radicale.The truth that makes us human: the uplifting canto of Luigi Pirandello
This essay looks beyond a prejudice that still shadows Pirandello’s work to re-uncover the educational value of his writings.
It analyses some pages where it is possible to recognise the edifying purpose of the author and his effort ‘to make a canto’ around the truth that makes us human.
An essay by Pirandello, Non Parlo di me (I am not speaking about me), seems to shed light on that human possession in which lies the radical possibility for humans to be able to achieve their own truth: the alive point.
Some of Pirandello’s characters seem to embody this research and to illustrate its features and criticalit:
The Prince of La favola del figlio cambiato (The changed son tale) claims to have found his own truth;
Moscarda, the main character of Uno, nessuno e centomila (One, no one and one hundred thousand), who has a suddenly revelation within the self;
Mrs Frola and Mr Ponza, in Così è (se vi pare) [It is so! (if you think so)], who show how our own truth can coexist with the one of the other even when those truths are conflicting
variants
No full textInternational audienceAbstract Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive disorder associating developmental sex disorder (DSD) in patients with 46,XY karyotype and visceroautonomic dysfunction responsible for sudden infant death. First described in 2004, very few patients have since been reported. We describe here a new patient with SIDDT and epileptic encephalopathy (EE). We provide the phenotypic description and genetic results of a boy carrying biallelic TSPYL1 deleterious variants. We also reviewed the data of the 26 previously described patients with SIDDT. Our patient presented gonadal dysgenesis, cardio‐respiratory dysfunction, and repeated seizures, leading in 1 month to severe intractable EE. He died at age 10 months of cardiorespiratory arrest. Four other reported patients from two families presented with progressive epilepsy, including one with severe EE. No similar phenotype was described in the 22 other patients and the recurrent variant p.Val242Glufs*52 appears to be more frequently associated with seizures. To note, our patient is the first case with compound heterozygous TSPYL1 variants. These findings expand the phenotypic spectrum of SIDDT by reporting progressive epilepsy and severe EE as a possible outcome. This information may help in managing patients with SIDDT
Komparativna analiza djela Franje Asiškoga
No full textIl Medioevo è stato un periodo che ha visto l'affermarsi del potere della Chiesa e delle varie letterature in volgare. La letteratura che è stata maggiormente rilevante per il tema di questa tesi è quella religiosa che, appunto, vanta il primo testo letterario in volgare: le Laudes creaturarum. Il suo autore, Francesco d'Assisi, conobbe la fede dopo una vita agiata segnata dalla prigionia. I suoi scritti dimostrano chiaramente sia i vizi sia le virtù e fanno emergere i diversi esiti che possono scaturire in base all'adozione di determinati comportamenti nell’esistenza umana. Infatti, ne La scienza dev'essere seguita dal ben operare vengono indicati due tipi di uomini: quelli che il sapere rende superbi e quelli che rimangono umili, perché riconoscono che le conoscenze a cui possono aspirare sono di Dio e per Dio. I due tipi di uomini riprendono rispettivamente l’impulsività di Ulisse e l’umiltà di Dante nei loro rispettivi viaggi, così come rispecchiano la personalità di san Francesco prima e dopo la conversione. Ne La povertà di spirito viene definito ‘povero di spirito’, colui che non ha troppo interesse per i beni terreni, ma si attiene severamente soltanto alla volontà di Dio. Quindi, egli è ‘il vero uomo di pace’, del quindicesimo capitolo delle Admonitiones. Ne Il Saluto alle Virtù la Carità, una virtù teologale, simboleggia l’abito di Beatrice nel XXX canto del Purgatorio della Comedìa, perché è di colore rosso. L’Obbedienza è la virtù ribadita nella conclusione de Il Saluto alle Virtù e si contrappone alla concezione di virtù di Machiavelli che esalta l’impeto dell’uomo. La Laudes creaturarum può essere accostata ai salmi biblici, in quanto ne riproduce la struttura tipica. Inoltre, gli elementi della natura della Laudes possono riflettere i sentimenti dell’individuo romantico del XIX secolo. Il Testamento è lo scritto ‘definitivo’ in cui San Francesco pone l’accento sull’io soggettivo, sul proprio trascorso, sottolineando però le norme di comportamento da adottare sia per sé sia per i frati dell’Ordine, già stabilite nella Regola bollata. L’episodio de La perfetta letizia dai Fioretti è riproposta nel Tolstoi di Giovanni Pascoli. La spiegazione della ‘non perfetta letizia’ può essere allineata al ‘non amore’ della Prima lettera di san Paolo ai Corinzi. Entrambi gli scritti rivelano che le conoscenze considerate utili e apprezzabili non sono appaganti, per chi conosce il significato della ‘perfetta letizia’ e per chi non ha amore/carità. Rispettivamente, per l’uomo il fine della perfetta letizia è quello di accogliere benevolmente le sofferenze. Il significato dell’amore è ridare vita a chi si sente solo e disprezzabile. La condizione di perfetta letizia viene paragonata alla lauda O Signor per cortesia di Jacopone da Todi in cui l’uomo sceglie volontariamente e, in nome di Dio, la sofferenza sia fisica sia morale che comporta la vita sulla Terra. I titoli Della pazienza e Della compassione del prossimo si riferiscono ai rispettivi omonimi (pazienza e compassione) che rendono possibile la vita sociale dell’Ordine. Dall’analisi comparativa traspare che gli scritti di San Francesco d’Assisi si imperniano su valori che sono eterni: che incitano gli uomini a essere oppure a diventare come le creature di Dio - obbedienti, compassionevoli, poveri di spirito, ma soprattutto credenti.The Middle Ages was a period of emergence of power of the Church and of the vulgar literatures. The most important literature for the topic of this thesis is the religious literature that, in fact, owns the first literary work: Canticle of the Creatures. Its author, Saint Francis of Assisi, experienced the faith, after a rich life marked by imprisonment. His writings clearly show vices and virtues and different outcomes that may arise, assuming certain behaviors in human's existence. In fact, in That Good Works should accompany Knowledge two types of men are presented: those who knowledge made arrogant and those who remained humble, because they recognize that knowledge they aspire is of God and for God. The two types of men, respectively, receive the impulsiveness of Ulysses and Dante’s humbleness in their respective journeys, as well as they reflect the personality of Saint Francis before and after his conversion. In the writing Of Poverty of Spirit the ‘poor of spirit’ is called the one who does not put his interest in earthly property, but he pays attention only to God’s will. So, this man is the ‘‘peacemaker’’, of the 15th chapter of Admonitions. In Salutation of the Virtues charity, a theological virtue, symbolizes Beatrice’s dress in the Comedìa’s XXX canto of Purgatory, because of its red colour. The virtue that is confirmed for the last in Salutation of the Virtues is the obedience, which contrasts with the conception of Machiavelli’s virtue that exalts human’s impetus. Canticle of the Creatures can be compared with the biblical psalms, as it reproduces their structure. In addition, the elements of nature in Laudes can be reflecting the feelings of the romantic individual in the 19th century. Testamentum of the Holy Father St. Francis is the ‘definitive’ script where he puts the emphasis on his ‘ego’, on his own past, pointing out the norms of behavior to be adopted for himself and for the friars of the Order, rules already established in The Rule of St. Francis. The episode of Perfect Joy of The Little Flowers of St. Francis of Assisi is replicated in Giovanni Pascoli’s Tolstoi. The explanation of ‘not perfect joy’ can be alligned with ‘no love’ of The Letter of Paul’s to the Corinthians. Both writings reveal that knowledge, which is considereded useful and appreciative, is not fulfilling for those who know the meaning of ‘perfect joy’ and those who do not have love/charity. The purpose of ‘perfect joy’ is that suffering has to be well accepted by human beings. The meaning of ‘love’ is to give life to those who feel alone and despicable. The condition of ‘perfect joy’ is compared to Jacopone da Todi’s O Signor per cortesia, the lauda in which man voluntary accepts, in the name of God, the physical and moral suffering that life on Earth brings. The titles Of patience and Of Compassion toward one’s Neighbor refer to patience and compassion, their homonyms that make possible the social life of the Order. The comparative analysis brings out that the writings of Saint Francis relate to values that are eternal, so that incite men to be or to become like the creatures of God – obedient, compassionate, poor in spirit, but above all, believers.Srednji vijek je razdoblje koje je posvjedočilo uspostavljanju moći Crkve i nastanka raznih književnosti na narodnom jeziku. Književnost koja ima značajnu važnost u ovom završnom radu je ona religiozna, koja obuhvaća upravo prvi talijanski književni spis na narodnom jeziku, a to jest: Pjesma stvorova. Njegov autor, Sv. Franjo Asiški upoznao se s vjerom nakon lagodnog života obilježenim zarobljeništvom. Njegovi su spisi jasni pokazatelji poroka i vrlina, te otkrivaju razne ishode koje mogu proizaći usvajanjem određenih ponašanja u ljudskome postojanju. Upravo, u Znanju neka odgovara dobrom djelovanju prikazane su dvije vrste ljudi: one koje znanje čini oholima, te one koje zadržvaju ponizno ponašanje, budući da prepoznaju da znanje kojemu smiju težiti jest Božji i za Boga. Ove dvije vrste ljudi podsjećaju na Odisejevu impulzivnost i Danteovu poniznost u svojim putovanjima, te isto tako odražavaju osobnost Sv. Franje, prije, odnosno nakon obraćenja. U siromaštvo duhom može se reći da je 'siromah duhom' onaj koji se ne brine previše zemaljskim dobrima, te se jedino i strogo pridržava Božjoj volji. On je zapravo 'mirotvorac', iz 15. poglavlja Opomena. U Pozdrav krepostima ljubav je teološka krepost koja simbolizira Beatricinu haljinu u 30. pjevanju Danteove Komedije, zato što je crvene boje. U zaključku Pozdrava krepostima je potvrđena poslušnost, jedna od kreposti koja se ujedno protivi Machiavelijevom poimanju istih, budući da on uzvišuje nalet u čovjeka. Pjesma stvorova može se asocirati na biblijske psalme jer oponaša njihovu karakterističnu strukturu. Također, prirodni elementi u Pjesmi stvorova mogu biti odraz osjećaja romantičnih pojedinaca 19. stoljeća. Oporuka svetoga Franje je ‘konačni’ spis u kojem on naglašava vlastito ‘’ja’’ i svoj nekadašnji život. Međutim, ističe i pravila ponašanja, već upisanih u Pravilo Reda manje braće. Svrha tih normi je njihovo usvajanje kao i za braću tako i za sebe. Događaj koji se odvija u Savršeno veselje iz Cvjetića svetoga Franje ponavlja se u Giovanni Pascolijevom Tolstoju. Objašnjenje ‘savršenog veselja’ može se uskladiti s ‘ne ljubavlju’ iz Prve poslanice Korinćanima sv. Pavla. Dakle, oba spisa otkrivaju da znanje, koje se smatra korisnim i cijenjenim, ne ispunjava ni one koji poznaju smisao ‘savršenog veselja’ niti one koji su za ljubav uskraćeni. Cilj ‘savršenog veselja’ je čovjekova dobrodošlica patnjama. Značenje ljubavi glasi: vratiti u život one koji se osjećaju usamljenima i koji preziru sami sebe. Stanje ‘savršene radosti’ može se usporediti s laudom Jacoponea da Todi O Signor per cortesia u kojoj čovjek dobrovoljno i u Božje ime prihvaća fizičku, te moralnu patnju koje život na zemlji donosi. Naslovi O ustrpljivosti i O suosjećanju s bližnjim se odnose na njihove homonime (odnosno strpljenje i suosjećanje) koje omogućuju društveni život Reda. Iz usporedbne analize proizlazi da su spisi Sv. Franje Asiškoga osnovani na vrijednostima koje su vječne, što i potiče ljude da budu ili da postanu kao Božja bića, tj. poslušni, suosjećajni, ‘siromašni u duhu’, ali nadasve vjernici
Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study
No full textFirst available in BioRxiv doi: http://dx.doi.org/10.1101/063438International audienceBackground. The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D.Methods. Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child’s environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods.Results. We found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age.Conclusions. The found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas.Trial registration. Clinical-Trial.gov NCT02212522. Registered August 6, 2014.
Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study
No full textAbstract Background The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D. Methods Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child’s environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods. Results We found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age. Conclusions The found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas. Trial registration Clinical-Trial.gov NCT02212522 . Registered August 6, 2014
Steering Taste: Ernest Marsh, a study of private collecting in England in the early 20th Century
No full textThe primary aim of this thesis is to focus attention on the bourgeois, 'un-named' collector. The driving force behind most museum and art gallery collections of the Victorian and Edwardian period. British museum and art gallery records of gifted collections, bequests and loans usually note their donors. However, with a few notable exceptions, little is known about the collectors, their activities and motivation in making such presentations.
Using the interests and activities of the Quaker miller and collector Ernest Marsh (1843-1945) as a case study, this thesis explores how in the period 1890-1945 a collector came to be a key agent in the construction and manifestation of taste in British Applied Arts and to a lesser degree in the Fine Arts. Through primary visual and documentary evidence of the Marsh home, and reference to contemporary and later commentaries it considers the relative influences of husband and wife on decorating and furnishing the domestic interior, the evolution of taste, and, for Ernest Marsh, its impact upon his artistic interests within the public arena.
By examination of private papers, metropolitan and provincial art gallery and museum archives it also considers evidence of the inter-relationships between donors and curators, and the mutual advantages and disadvantages accruing to both, particularly focussing on the processes in bringing about changes in individual and institutional collecting policy. Further, by review of records of, in particular, the Contemporary Art Society and the Greenslade archive, it examines the degree to which private benefactors and those in public or semi-public office, acting as fund-raisers and spenders exercise influence through patronage of particular practitioners, choice of works and initiating new designs
