Search Results - "Cappa, Marco"

Ontogeny of Hypothalamus-Pituitary Gonadal Axis and Minipuberty: An Ongoing Debate? by Bizzarri, Carla, Cappa, Marco

“…The fetal hypothalamus-pituitary gonadal (HPG) axis begins to function during mid-gestation but its activity decreases during late pregnancy due to the…”
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X-linked adrenoleukodystrophy and primary adrenal insufficiency by Cappa, Marco, Todisco, Tommaso, Bizzarri, Carla

“…X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette…”
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"Impact of COVID-19 pandemic lockdown on early onset of puberty: experience of an Italian tertiary center" by Verzani, Martina, Bizzarri, Carla, Chioma, Laura, Bottaro, Giorgia, Pedicelli, Stefania, Cappa, Marco

“…At the end of 2019, an emerging atypical pneumonia called COVID-19 (coronavirus disease 2019), caused by the novel coronavirus defined as SARS-CoV-2 (Severe…”
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Impact of short stature on quality of life: A systematic literature review by Backeljauw, Philippe, Cappa, Marco, Kiess, Wieland, Law, Lisa, Cookson, Charlotte, Sert, Caroline, Whalen, John, Dattani, Mehul T.

“…We sought to obtain a better understanding of the burden of short stature using a systematic literature review. Studies of the burden of short stature, of any…”
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The Bones of Children With Obesity by Fintini, Danilo, Cianfarani, Stefano, Cofini, Marta, Andreoletti, Angela, Ubertini, Grazia Maria, Cappa, Marco, Manco, Melania

“…Excess adiposity in childhood may affect bone development, ultimately leading to bone frailty. Previous reports showing an increased rate of extremity…”
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Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes by Cudini, Annamaria, Nardella, Caterina, Bellacchio, Emanuele, Palma, Alessia, Delfino, Domenico Vittorio, Betterle, Corrado, Cappa, Marco, Fierabracci, Alessandra

“…Autoimmune polyglandular syndromes (APS) are classified into four main categories, APS1-APS4. APS1 is caused by gene loss of function mutations, while the…”
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COVID-19 pandemic phases and female precocious puberty: The experience of the past 4 years (2019 through 2022) in an Italian tertiary center by Chioma, Laura, Chiarito, Mariangela, Bottaro, Giorgia, Paone, Laura, Todisco, Tommaso, Bizzarri, Carla, Cappa, Marco

“…Since the outbreak of COVID-19 pandemic, several centers of pediatric endocrinology worldwide have observed a significant increase in the number of girls…”
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Adrenal crisis in infants and young children with adrenal insufficiency: Management and prevention by Bizzarri, Carla, Capalbo, Donatella, Wasniewska, Malgorzata Gabriela, Baronio, Federico, Grandone, Anna, Cappa, Marco

“…Despite the optimization of replacement therapy, adrenal crises still represent life-threatening emergencies in many children with adrenal insufficiency. We…”
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Sedentary lifestyle and precocious puberty in girls during the COVID-19 pandemic: an Italian experience by Chioma, Laura, Bizzarri, Carla, Verzani, Martina, Fava, Daniela, Salerno, Mariacarolina, Capalbo, Donatella, Guzzetti, Chiara, Penta, Laura, Di Luigi, Luigi, di Iorgi, Natascia, Maghnie, Mohamad, Loche, Sandro, Cappa, Marco

“…Objective This retrospective study aimed to evaluate children observed for suspected precocious puberty in five Italian centers of Pediatric Endocrinology…”
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Low Birthweight Increases the Likelihood of Severe Steatosis in Pediatric Non-Alcoholic Fatty Liver Disease by Bugianesi, Elisabetta, Bizzarri, Carla, Rosso, Chiara, Mosca, Antonella, Panera, Nadia, Veraldi, Silvio, Dotta, Andrea, Giannone, Germana, Raponi, Massimiliano, Cappa, Marco, Alisi, Anna, Nobili, Valerio

“…Small for gestational age (SGA) is associated with an increased risk of non-alcoholic fatty liver disease (NAFLD). Our aim was to investigate the correlation…”
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A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature by Aureli, Alessia, Bocchini, Sarah, Mariani, Michela, Crinò, Antonino, Cappa, Marco, Fintini, Danilo

“…Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11-13, associated with several…”
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Low Levels of Serum Total Vitamin B12 Are Associated with Worse Metabolic Phenotype in a Large Population of Children, Adolescents and Young Adults, from Underweight to Severe Obesity by Aureli, Alessia, Recupero, Rosanna, Mariani, Michela, Manco, Melania, Carlomagno, Francesco, Bocchini, Sarah, Nicodemo, Mirella, Marchili, Maria Rosaria, Cianfarani, Stefano, Cappa, Marco, Fintini, Danilo

“…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…”
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Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort by Capalbo, Donatella, Moracas, Cristina, Cappa, Marco, Balsamo, Antonio, Maghnie, Mohamad, Wasniewska, Malgorzata Gabriela, Greggio, Nella Augusta, Baronio, Federico, Bizzarri, Carla, Ferro, Giusy, Di Lascio, Alessandra, Stancampiano, Marianna Rita, Azzolini, Sara, Patti, Giuseppa, Longhi, Silvia, Valenzise, Mariella, Radetti, Giorgio, Betterle, Corrado, Russo, Gianni, Salerno, Mariacarolina

“…Abstract Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. Objective…”
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Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant by Ventresca, Silvia, Lepri, Francesca Romana, Criscuolo, Sabrina, Bottaro, Giorgia, Novelli, Antonio, Loche, Sandro, Cappa, Marco

“…Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth…”
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Use of GLP-1 receptor agonists in Prader-Willi Syndrome: report of six cases by Fintini, Danilo, Grugni, Graziano, Brufani, Claudia, Bocchini, Sarah, Cappa, Marco, Crinò, Antonino

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Effect of p53 activation through targeting MDM2/MDM4 heterodimer on T regulatory and effector cells in the peripheral blood of Type 1 diabetes patients by Pellegrino, Marsha, Traversi, Gianandrea, Arena, Andrea, Cappa, Marco, Rosado, M Manuela, Andreani, Marco, Delfino, Domenico V, Moretti, Fabiola, Fierabracci, Alessandra

“…Various immunotherapies for the treatment of type 1 diabetes are currently under investigation. Some of these aim to rescue the remaining beta cells from…”
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Insulin Clearance at the Pubertal Transition in Youth with Obesity and Steatosis Liver Disease by Franceschi, Roberto, Fintini, Danilo, Ravà, Lucilla, Mariani, Michela, Aureli, Alessia, Inzaghi, Elena, Pedicelli, Stefania, Deodati, Annalisa, Bizzarri, Carla, Cappa, Marco, Cianfarani, Stefano, Manco, Melania

“…No data are available on insulin clearance (Cl ) trends during the pubertal transition. The aim of this study was to investigate in 973 youths with obesity…”
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Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium by Ziccardi, Lucia, Niceta, Marcello, Stellacci, Emilia, Ciolfi, Andrea, Tatti, Massimo, Bruselles, Alessandro, Mancini, Cecilia, Barbano, Lucilla, Cecchetti, Serena, Costanzo, Eliana, Cappa, Marco, Parravano, Mariacristina, Varano, Monica, Tartaglia, Marco, Cordeddu, Viviana

“…Inherited retinal degeneration (IRD) represents a clinically variable and genetically heterogeneous group of disorders characterized by photoreceptor…”
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Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies by Paldino, Giorgia, Faienza, Maria Felicia, Cappa, Marco, Pietrobattista, Andrea, Capalbo, Donatella, Valenzise, Mariella, Lampasona, Vito, Cudini, Annamaria, Carbone, Elena, Pagliarosi, Olivia, Maggiore, Giuseppe, Salerno, Mariacarolina, Betterle, Corrado, Fierabracci, Alessandra

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in gene, which…”
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Chronic Kidney Disease and Growth Failure in Children by Todisco, Tommaso, Ubertini, Grazia Maria, Bizzarri, Carla, Loche, Sandro, Cappa, Marco

“…Chronic kidney disease (CKD) is a significant challenge for pediatric endocrinologists, as children with CKD may present a variety of endocrine complications…”
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