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English to Italian
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English (monolingual)

Fabio Rossini
ENG-ITA Translator

London, United Kingdom
Local time: 22:53 BST (GMT+1)

Native in: Italian Native in Italian
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English to Italian: PCOS Syndrome
General field: Medical
Detailed field: Medical (general)
Source text - English
PCOS Syndrome
Polycystic Ovary Syndrome – ECAB edited by Gita Ganguly Mukherjee

Although the exact etiology of PCOS is still debated, studies conducted with family members of women with PCOS have suggested that there is a genetic role in its pathogenesis. In a study group of 15 prepubertal daughters of women with PCOS, all but one were found to have polycystic ovaries by ultrasound. In a twin study of PCOS, there was a concordance rate of 60% among the sampled dizygotic twin pairs and 74% among monozygotic twin pairs. Hyperandrogenemia, either with or without menstrual irregularity, is present in about one-half of sisters of women with PCOS. Additionally, the parents of women with PCOS have a high prevalence of impaired glucose tolerance and type 2 diabetes (T2DM), 30%–31% and 16%–27%, respectively.
There is evidence that PCOS may be a lifelong disorder where certain precursors are present well before the full onset of disease. In fact, polycystic appearing ovaries have been found in girls as young as 6 years, and some girls are probably born with polycystic ovaries. Experimental studies of hyperandrogenism in animals prior to birth further suggest that the hormonal aspect of PCOS is genetically predetermined. It seems as though patients with PCOS have at least some form of it throughout life. However, diagnosing the disorder before puberty is difficult because patients with PCOS are generally diagnosed only after seeking help for irregular menses or skin changes that do not take place until puberty.
Although several specific genes have been suggested as markers for PCOS susceptibility, there has been no clear evidence of any of them being strongly associated with PCOS inheritance. The fact that insulin resistance is such a prominent feature of PCOS has led to the hypothesis that PCOS is the result of so-called thrifty genes being expressed in an environment of plentiful food and minimal exercise. Many suspected genes, including the Xbal polymorphism of the glycogen synthetase gene, the T228A polymorphism of the SORBS1 gene, and the D85 and Y85 variants of the UGT2B15 gene, have been found to be no more common in women with PCOS than in the general population. The v-LH gene variant has been shown to play a minor role in PCOS, but more research is still necessary. The C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor (INSR) gene has been implicated in PCOS susceptibility, but only among the population of lean women. The INS VNTR and CYP11alpha genes also show some association with PCOS. Calpain 10, IRS-1, IRS-2, and sex hormone binding globulin (SHBG) genes have been suggested to contribute to PCOS. Also, the study of PCOS theca cells has suggested even more genes, including aldehyde dehydrogenase 6 and retinal dehydrogenase 2, that may factor into the inheritance of PCOS.
Despite the fact that there is a strong familial component to PCOS, it clearly has a multifactorial pathogenesis. It is widely agreed that among women genetically predisposed to developing PCOS, an additional event triggers the development of the full-blown syndrome. For example, the increase in insulin levels and IGF-I activity that naturally occurs during puberty can activate the expression of PCOS . Other such events could be prolonged stress or weight gain.
Translation - Italian
Sindrome dell’ovaio policistico
Polycystic Ovary Syndrome – ECAB edited by Git Ganguly Murhejee



Nonostante l’esatta eziologia della Sindrome dell’ovaio policistico (PCOS) sia ancora in discussione, studi condotti sui familiari didonne affette da PCOS hanno suggerito che la genetica riveste un ruolo primario nella patogenesi della malattia. Uno studio effettuato su un gruppo di bambine in età prepuberale, figlie di madri affette da PCOS, all’esame ecografico ha dimostrato la presenza di ovaie policistiche in ben 14 di esse. In secondo luogo, in uno studio specifico compiuto su gemelle con PCOS, vi è stato un tasso di concordanza del 60% tra le coppie di gemelle dizigoti incluse nel campione e del 74% tra coppie monozigoti. L’iperandrogenismocon o senza alterazioni del ciclo mestruale, è presente in circa la metà delle sorelle di donne affette da PCOS.
Inoltre, i genitori di donne affette da PCOS presentano un’alta incidenza di ridotta tolleranza alglucosio e diabete di tipo 2 (NIDDM), rispettivamente del 30%-31% e del 16%-27%.
Oltre a quanto è stato detto, ci sono prove che dimostrano come la sindrome dell’ovaio policistico possa essere una patologia permanente, dove determinati precursori sono presenti ben prima della sua completa insorgenza. Difatti, ovaie policistiche sono state riscontrate in bambine di soli sei anni, alcune delle quali nate probabilmente già con la sindrome. Studi sperimentali sull’iperandrogenismo nei feti animali suggeriscono ulteriormente che l’aspetto ormonale della sindrome è geneticamente predeterminato. Sembra quindi che le pazienti affette da PCOS presentino una o più forme nel corso della vita. Tuttavia, la diagnosi della sindrome prima della pubertà risulta difficile, in quanto la PCOS è generalmente diagnosticata alle pazienti solamente dopo richiesta di assistenza a causa di flussi mestruali irregolari o alterazioni cutanee che solitamente non avvengono prima della pubertà.

Sebbene si ipotizzi che numerosi geni specifici siano marcatori genetici per la predisposizione alla sindrome, non c’è alcuna evidenza della loro associazione con l’ereditarietà della PCOS. Essendo l’insulino resistenza una caratteristica della malattia molto evidente, essa ha pertanto condotto all’ipotesi che la sindrome sia il risultato dei cosiddetti geni risparmiatori che si manifestano in un ambiente ricco di cibo e ridotto esercizio. La presenza di vari geni sospetti, quali il polimorfismo Xbal del gene della glicogenosintetasi, il poliformismo T228A del gene SORBS1, e le varianti D85 e Y85 del gene UGT2B15, sono stati riscontrati non essere più comuni in donne affette da PCOS di quanto non lo siano in persone non affette. La variante genetica v-LH ha dimostrato avere un ruolo minore nella sindrome, ma è necessaria ulteriore ricerca. Il polimorfismo C/T a singolo nucleoide nel dominio tirosin-chinasi del gene recettore dell’insulina, è stato chiamato in causa per la predisposizione alla sindrome dell’ovaio policistico, seppur solo tra la popolazione di donne esili.
I geni INS VNTR e CYP11 alfa hanno anch’essi mostrato un collegamento con la PCOS. È stato suggerito che i geni Calpain 10, IRS-1, IRS-2 e le globuline leganti gli ormoni sessuali (SHBG) possano contribuire allo sviluppo della malattia. Infine, studi condotti sulle cellule tecali legate alla sindrome ipotizzano che altri geni, compresi la aldeide deidrogenasi 6 e la retinale deidrogenasi 2, potrebbero rappresentare un aspetto determinante nell’ereditarietà della PCOS.

Nonostante esserci una forte componente familiare nella sindrome dell’ovaio policistico, essa ha chiaramente una patogenesi dai molteplici fattori. Gli studiosi si trovano d’accordo nell’affermare che tra le donne geneticamente predisposte a sviluppare PCOS, ulteriori eventi possano scatenare lo sviluppo della sindrome vera e propria. Per fare un esempio, l’incremento dei livelli di insulina e l’attività dell’ormone IGF-1 che è naturalmente presente durante la pubertà, può attivare la manifestazione della sindrome. Tra gli altri fattori concomitanti si possono annoverare lo stress prolungato e l’aumento ponderale.

Translation education Master's degree - University of Roehampton
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Bio

Italian living abroad in London. I have a strong passion for languages and learning about different cultures, which led me to study intercultural communication at university in Milan, Italy and move to London (and Tokyo). Just completing a MA in Specialised Translation at Roehampton University with modules such as technical and scientific translation, subtitling and localisation of video games.

New to the translators' world, i am keen to get as much experience as possible and ready to enter this fantastic world!



Profile last updated
Jul 7, 2020



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