1,721,060 research outputs found
I rachitismi ipofosfatemici
No full textI rachitismi ipofosfatemici rappresentano forme rare di rachitismo trasmesse geneticamente che negli ultimi anni sono state meglio caratterizzate da una
diagnosi molecolare. Le recenti acquisizioni sulla regolazione del metabolismo fosfo-calcico hanno evidenziato come il fattore di crescita fibroblastico
23 (fibrobast growth factor 23, FGF23) svolga un ruolo centrale nella patogenesi dei rachitismi ipofosfatemici: infatti, livelli elevati di FGF23 determinano
l’ipofosfatemia che porta all’instaurarsi delle lesioni rachitiche. Esistono diverse forme di rachitismo ipofosfatemico in cui i livelli di FGF23 sono elevati o
inappropriatamente normali per l’ipofosfatemia: il rachitismo ipofosfatemico X-linked dovuto a mutazione inattivante del gene PHEX, la forma autosomico
dominante dovuta a mutazione attivante del gene FGF23, le forme autosomiche recessive (tipo 1 e tipo 2) dovute a mutazione dei geni DMP1 e ENPP1,
rispettivamente. Esiste inoltre una forma di rachitismo ipofosfatemico ereditario con ipercalciuria, un disordine autosomico recessivo caratterizzato da una
mutazione del gene SLC34A3 in cui la fosfaturia consegue ad un difetto primitivo renale, per cui i livelli di FGF23 sono ridotti o ai limiti bassi della norma.
Nonostante la diagnosi di queste forme genetiche di rachitismo rimanga essenzialmente clinica, la diagnosi genetica può dare importanti informazioni sul
tipo di rachitismo ipofosfatemico, sulla prognosi e sulla terapia. Inoltre, una più precisa identificazione dei meccanismi molecolari alla base delle singole
patologie potrà, in un prossimo futuro, identificare nuovi target terapeutici
Cytogenetic remission induced by interferon alpha in a myeloproliferative disorder with trisomy 8
No full text
Central precocious puberty in 48,XXYY Klinefelter syndrome variant.
No full textAbstract
We report the first case of central precocious puberty in a patient with 48,XXYY Klinefelter syndrome variant. We also report clinical characteristics, growth pattern, endocrine data and pathological testicular findings. The patient did not receive medical care for his precocious pubertal development, because of adequate height prognosis, and reached normal height for both his target height and Klinefelter patients. Since precocious puberty seems to occur in Klinefelter syndrome and its variants, we advise karyotype analysis in boys with mental retardation, gynecomastia, small testes and precocious onset of puberty
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature.
No full textWe report on a 36-year-old infertile woman, presenting a premature ovarian failure with an otherwise normal female phenotype. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, that was characterized by FISH (fluorescent in situ hybridization) and array CGH (comparative genomic hybridization). This marker chromosome was derived from chromosome 15, and contained only heterochromatic material. The Prader Willi/Angelman region was not present. No duplications of the 15q regions were detected by array CGH. Supernumerary markers of chromosome 15 have been reported in cases of infertility and amenorrhea, that is also described in cases with marker derived by other acrocentric chromosomes. The case here presented constitutes a further example that etiology of POF is not always associated with a defective gene, but in some cases oocytes atresia can be the consequence of the abnormal meiotic pairing of chromosomes
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