Zobrazeno 1 - 10
of 392
pro vyhledávání: '"Marco Cappa"'
Autor:
Lindsay T. Fourman, Josivan Gomes Lima, Vinaya Simha, Marco Cappa, Saif Alyaarubi, Renan Montenegro, Baris Akinci, Ferruccio Santini
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionLipodystrophy syndromes are rare diseases that can present with a broad range of symptoms. Delays in diagnosis are common, which in turn, may predispose to the development of severe metabolic complications and end-organ damage. Many patie
Externí odkaz:
https://doaj.org/article/1e864fa7ac784319b639eb737142ecf1
Autor:
Silvia Ventresca, Francesca Romana Lepri, Sabrina Criscuolo, Giorgia Bottaro, Antonio Novelli, Sandro Loche, Marco Cappa
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehea
Externí odkaz:
https://doaj.org/article/fe77b3818f0d4050af2e8cc70eb4b504
Autor:
Manuela Caruso, Diego Mazzatenta, Sofia Asioli, Giuseppe Costanza, Giampaolo Trivellin, Martin Franke, Dayana Abboud, Julien Hanson, Véronique Raverot, Patrick Pétrossians, Albert Beckers, Marco Cappa, Adrian F. Daly
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
X-linked acrogigantism (X-LAG) is a rare form of pituitary gigantism that is associated with growth hormone (GH) and prolactin-secreting pituitary adenomas/pituitary neuroendocrine tumors (PitNETs) that develop in infancy. It is caused by a duplicati
Externí odkaz:
https://doaj.org/article/7947c1800ddc4f16bb1a084904a86f5f
Publikováno v:
Children, Vol 11, Iss 7, p 808 (2024)
Chronic kidney disease (CKD) is a significant challenge for pediatric endocrinologists, as children with CKD may present a variety of endocrine complications. Growth failure is common in CKD, and its severity is correlated with the degree of renal in
Externí odkaz:
https://doaj.org/article/2ab88b98593648568e2dc0c0597028dc
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). Ac
Externí odkaz:
https://doaj.org/article/ad1af5f6b7e1432791382669afe65135
Autor:
Agnese Murianni, Anna Lussu, Chiara Guzzetti, Anastasia Ibba, Letizia Casula, Mariacarolina Salerno, Marco Cappa, Sandro Loche
Publikováno v:
Endocrines, Vol 4, Iss 1, Pp 169-178 (2023)
Background: Several studies have evaluated the role of IGF-1 in the diagnosis of growth hormone deficiency (GHD). According to a recent study, an IGF-1 concentration of a −1.5 standard deviation score (SDS) appeared to be the best cut-off for disti
Externí odkaz:
https://doaj.org/article/691ded72cc67439788032dd462bb8c9d
Autor:
Annamaria Cudini, Caterina Nardella, Emanuele Bellacchio, Alessia Palma, Domenico Vittorio Delfino, Corrado Betterle, Marco Cappa, Alessandra Fierabracci
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2656 (2024)
Autoimmune polyglandular syndromes (APS) are classified into four main categories, APS1–APS4. APS1 is caused by AIRE gene loss of function mutations, while the genetic background of the other APS remains to be clarified. Here, we investigated the p
Externí odkaz:
https://doaj.org/article/e5230205ef344924bc2bf0a4e777f3e6
Autor:
Giorgia Paldino, Maria Felicia Faienza, Marco Cappa, Andrea Pietrobattista, Donatella Capalbo, Mariella Valenzise, Vito Lampasona, Annamaria Cudini, Elena Carbone, Olivia Pagliarosi, Giuseppe Maggiore, Mariacarolina Salerno, Corrado Betterle, Alessandra Fierabracci
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in AIRE gene, which encodes a transcription factor essential for central immune tolerance. Clas
Externí odkaz:
https://doaj.org/article/788c085f8c4a4b618a838e8a8115d94b
Autor:
Alessia Aureli, Rosanna Recupero, Michela Mariani, Melania Manco, Francesco Carlomagno, Sarah Bocchini, Mirella Nicodemo, Maria Rosaria Marchili, Stefano Cianfarani, Marco Cappa, Danilo Fintini
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16588 (2023)
Vitamin B12 (or cobalamin) is an essential vitamin for DNA synthesis, fatty acid and protein metabolism as well as other metabolic pathways fundamental to the integrity of cells and tissues in humans. It is derived from the diet and mostly stored in
Externí odkaz:
https://doaj.org/article/bebc3914f92e4366b1837c408a918142
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Prader–Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11–13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, gluc
Externí odkaz:
https://doaj.org/article/3f94b64a8e9e40ae889461da68793e80