Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Silvia Ciancia"'
Publikováno v:
Children, Vol 11, Iss 5, p 578 (2024)
The advancement of genetic knowledge and the discovery of an increasing number of genetic disorders has made the role of the geneticist progressively more complex and fundamental. However, most genetic disorders present during childhood; thus, their
Externí odkaz:
https://doaj.org/article/1dd974fc7196459b849e4005b34a59b1
Autor:
Silvia Ciancia, Lorenzo Iughetti
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-3 (2023)
Abstract Background Gender incongruence (GI) is a term used to describe a marked and persistent incompatibility between the sex assigned at birth (SAAB) and the experienced gender. Some persons presenting with GI experience a severe psychological dis
Externí odkaz:
https://doaj.org/article/c265b48f52fa41f1a9f2a305b32975f2
Publikováno v:
Endocrine Connections, Vol 11, Iss 11, Pp 1-10 (2022)
Both in the United States and Europe, the number of minors who present at transgender healthcare services before the onset of puberty is rapidly expanding. Many of those who will have persistent gender dysphoria at the onset of puberty will pursue lo
Externí odkaz:
https://doaj.org/article/1da90ff6ffe7422392d3f9c0b80908fe
Publikováno v:
Children, Vol 10, Iss 9, p 1569 (2023)
The ACTH (adrenocorticotropic hormone) stimulation test is the gold standard for the diagnosis of adrenal insufficiency (AI), performed with ACTH high dose (HDT) or low dose (LDT). As salivary cortisol has been proposed as an alternative to serum cor
Externí odkaz:
https://doaj.org/article/ae55dcf7fa804811ba5195e6b3f8e59d
Autor:
Silvia Ciancia, Antonella Crisafi, Ilaria Fontana, Alessandro De Fanti, Sergio Amarri, Lorenzo Iughetti
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-5 (2020)
Abstract Background Neurological complications due to reactivation of varicella-zoster virus (VZV) are very uncommon in immunocompetent patients. Generally a vesicular rash is present on one or more dermatomes, preceding or following the main manifes
Externí odkaz:
https://doaj.org/article/4694f459710f4b408ef74f79f0fa2426
Autor:
Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appea
Externí odkaz:
https://doaj.org/article/ec150d01b8a7412dab3fd8beb6b7d8d1
Publikováno v:
Case Reports in Pediatrics, Vol 2021 (2021)
In case of primary hypothyroidism, reactive pituitary hyperplasia can manifest as pituitary (pseudo) macroadenoma. We report the case of a 12-year-old boy who was evaluated for impaired growth velocity and increased body weight. Because of low insuli
Externí odkaz:
https://doaj.org/article/4e50ec234bf94bb5b384086dd35778c4
Autor:
Silvia Ciancia, Rick R. van Rijn, Wolfgang Högler, Natasha M. Appelman-Dijkstra, Annemieke M. Boot, Theo C. J. Sas, Judith S. Renes
Publikováno v:
Ciancia, S, van Rijn, R R, Högler, W, Appelman-Dijkstra, N M, Boot, A M, Sas, T C J & Renes, J S 2022, ' Osteoporosis in children and adolescents : when to suspect and how to diagnose it ', European Journal of Pediatrics, vol. 181, no. 7, pp. 2549-2561 . https://doi.org/10.1007/s00431-022-04455-2
Early recognition of osteoporosis in children and adolescents is important in order to establish an appropriate diagnosis of the underlying condition and to initiate treatment if necessary. In this review, we present the diagnostic work-up, and its p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d478df96c6d337575bcea8afceadb5
http://www.scopus.com/inward/record.url?scp=85127623055&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85127623055&partnerID=8YFLogxK
Autor:
Vanessa Dubois, Silvia Ciancia, Stefanie Doms, Sarah El Kharraz, Vera Sommers, Na Ri Kim, Karel David, Jolien Van Dijck, Roger Valle Tenney, Christa Maes, Leen Antonio, Brigitte Decallonne, Geert Carmeliet, Frank Claessens, Martine Cools, Dirk Vanderschueren
Publikováno v:
Journal of Bone and Mineral Research.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::432adf947b6a7d2efb6a902acdd8cc1f
https://doi.org/10.1002/jbmr.4832
https://doi.org/10.1002/jbmr.4832
Autor:
Silvia Ciancia, Wolfgang Högler, Ralph J. B. Sakkers, Natasha M. Appelman-Dijkstra, Annemieke M. Boot, Theo C. J. Sas, Judith S. Renes
Publikováno v:
European Journal of Pediatrics. SPRINGER
European Journal of Pediatrics
European Journal of Pediatrics
Osteoporosis is a condition of increased bone fragility associated with fractures. Apart from primary genetic osteoporotic conditions, secondary osteoporosis in children is being increasingly recognized. As a result, there is growing interest in its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3489a502a1041d8643cdd6d364caabae
https://doi.org/10.1007/s00431-022-04743-x
https://doi.org/10.1007/s00431-022-04743-x
