Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Rita Ortolano"'
Autor:
Rita Ortolano, Erika Cantarelli, Federico Baronio, Valentina Assirelli, Egidio Candela, Carla Mastrangelo, Sofia Vissani, Randa S. Alqaisi, Marcello Lanari, Alessandra Cassio
Publikováno v:
Children, Vol 11, Iss 9, p 1136 (2024)
Background/Objectives: Levothyroxine (L-T4) is available for use in congenital hypothyroidism (CH) in three formulations: tablets, drops, and oral solution. This study aims to compare the efficacy and safety of all three L-T4 formulations. Methods: W
Externí odkaz:
https://doaj.org/article/c920248c1ae44f36bb549b3a47cb6c70
Autor:
Federico Baronio, Valentina Assirelli, Giuseppina Deiana, Randa AlQaisi, Rita Ortolano, Valeria Di Natale, Egidio Candela, Alessandra Cassio
Publikováno v:
Medicina, Vol 60, Iss 3, p 497 (2024)
Background and Objectives: bLH is considered an excellent biochemical predictor of CPP. However, its utilization in clinical practice shows some uncertainties. This study aims to evaluate the diagnostic power of bLH and propose a diagnostic algorithm
Externí odkaz:
https://doaj.org/article/3d047960a1454b3ca0a6f5d8c4092025
Autor:
Valentina Assirelli, Federico Baronio, Rita Ortolano, Giulio Maltoni, Stefano Zucchini, Valeria Di Natale, Alessandra Cassio
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Abstract Objective Recently, we observed some cases of Precocious Puberty (PP) with a partial central activation of hypothalamic-pituitary-gonadal (HPG) axis that tended to normalized in 6–12 months. To evaluate the frequency of this form within th
Externí odkaz:
https://doaj.org/article/6af85e8011194bf9ba05b5a63c20c0af
Autor:
Rita Ortolano, Alessandra Cassio, Randa S. Alqaisi, Egidio Candela, Valeria Di Natale, Valentina Assirelli, Luca Bernardini, Elisa Bortolamedi, Erika Cantarelli, Beniamino Corcioni, Matteo Renzulli, Antonio Balsamo, Federico Baronio
Publikováno v:
Children, Vol 10, Iss 9, p 1457 (2023)
Testicular adrenal rest tumors (TARTs) are a common complication in male patients with congenital adrenal hyperplasia (CAH). The aim of our cross-sectional cohort study is to estimate the frequency of TARTs with the correlation of genotype and diseas
Externí odkaz:
https://doaj.org/article/c2bc00e261b0423ba9e880af3418f7c4
Autor:
Laura Bruni, Alessandra Cassio, Valeria Di Natale, Federico Baronio, Rita Ortolano, Andrea Pession, Bianca Maria Piraccini, Iria Neri
Publikováno v:
Children, Vol 10, Iss 9, p 1491 (2023)
An infant with a prenatal diagnosis of citrullinemia, who started standard treatment at birth (L-arginine; sodium benzoate and a personalized diet characterized by a low protein intake and supplementation of essential nutrients and amino acids), pres
Externí odkaz:
https://doaj.org/article/87a90b98e6db4d19b32117d7862b96fa
Autor:
Egidio Candela, Michele Zagariello, Valeria Di Natale, Rita Ortolano, Francesca Righetti, Valentina Assirelli, Giacomo Biasucci, Alessandra Cassio, Andrea Pession, Federico Baronio
Publikováno v:
Children, Vol 10, Iss 2, p 396 (2023)
Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine. Marked hyperhomocysteinemia is the hallmark of the disea
Externí odkaz:
https://doaj.org/article/6ddea534be3a4c6fb0b321597cf2d605
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Autor:
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy betwe
Externí odkaz:
https://doaj.org/article/693ce51ab3634e2681369cd0d228d859
Autor:
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase;
Externí odkaz:
https://doaj.org/article/6f4bc2e678d14f1784386e1d2ae93dc0
Autor:
Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 18, p 4605 (2019)
The term ‘differences of sex development’ (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, or anatomical sex. Disorders of steroidogenesis comprise autosomal recessive conditi
Externí odkaz:
https://doaj.org/article/33cdbab14a3a4117987b3247c03bd049
Autor:
Rita Ortolano, Federico Baronio, Riccardo Masetti, Arcangelo Prete, Alessandra Cassio, Andrea Pession
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, p 1 (2017)
Externí odkaz:
https://doaj.org/article/2bf7fcbe84784d1dbfd66f0dcf08da56