Review
Pediatrics
Roberto Paparella, Michela Menghi, Ginevra Micangeli, Lucia Leonardi, Giovanni Profeta, Francesca Tarani, Carla Petrella, Giampiero Ferraguti, Marco Fiore, Luigi Tarani
Summary: Autoimmune polyendocrine syndromes (APSs) are rare diseases characterized by autoimmune activity against multiple endocrine or non-endocrine organs. This manuscript aims to present the clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in pediatric patients, as well as the mechanisms of autoimmunity and currently available treatments for these rare conditions.
Review
Rheumatology
Katarzyna Jankowska, Piotr Dudek, Malgorzata Stasiek, Katarzyna Suchta
Summary: Autoimmune polyendocrine syndromes are a group of autoimmune diseases characterized by dysfunctions of multiple endocrine glands. They may accompany autoimmune rheumatic diseases and worsen their course. Undiagnosed endocrine diseases can intensify metabolic disorders, render rheumatological treatment ineffective, and lead to complications such as bone fractures, cardiovascular issues, and miscarriages.
Article
Endocrinology & Metabolism
Esther Park, Min -Sun Kim, Eu Seon Noh, Ji-Eun Lee, Su Jin Kim, Young Se Kwon, Sung Yoon Cho
Summary: This paper describes the clinical, molecular, and biochemical features of MEN2A, APS-2, and KS in a 16-year-old male. It is the first reported case of association between MEN2 and APS in adolescence and the first case of MEN2 and APS in KS.
Article
Endocrinology & Metabolism
Esther Park, Min -Sun Kim, Eu Seon Noh, Ji-Eun Lee, Su Jin Kim, Young Se Kwon, Sung Yoon Cho
Summary: MEN2A is a genetic disorder caused by pathogenic variants in the RET protooncogene, presenting with MTC, pheochromocytoma, and hyperparathyroidism. APS-2 includes diseases like T1DM, autoimmune thyroid disease, and Addison's disease. This is the first case of MEN2 and APS association in adolescence and the second proven case in humans, and also the first report of MEN2 and APS in KS.
Article
Endocrinology & Metabolism
Richard E. Phillips, Parijat De
Summary: A 62-year-old man with type 1 diabetes mellitus presented with atypical symptoms of posterior cerebral artery stroke, possibly related to multiple endocrine comorbidities. The culprit acute infarct in his head was identified by diffusion-weighted magnetic resonance imaging.
PRACTICAL DIABETES
(2021)
Article
Endocrinology & Metabolism
S. Cannavo, M. Cappa, D. Ferone, A. M. Isidori, S. Loche, M. Salerno, M. Maghnie
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Letter
Endocrinology & Metabolism
Maurizio Delvecchio, Alessio Galati, Claudio Maffeis, Stefano Passanisi, Riccardo Bonfanti, Roberto Franceschi, Gianluca Tornese, Elena Calzi, Angela Zanfardino, Giulia Patrizia Bracciolini, Elvira Piccinno, SPED Diabetes Study Grp
DIABETES OBESITY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
F. Moro, I Scavello, E. Maseroli, G. Rastrelli, C. Baima Poma, C. Bonin, F. Dassie, S. Federici, S. Fiengo, L. Guccione, M. Villani, A. Gambineri, R. Mioni, P. Moghetti, C. Moretti, L. Persani, G. Scambia, F. Giorgino, L. Vignozzi
Summary: The aim of this study was to standardize the definition of normal ovarian ultrasound parameters. Through summarizing and meta-analyzing the evidence from English articles, the study provides valuable information for the interpretation and diagnostic accuracy of ovarian ultrasound parameters in different physiological and pathological conditions.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Endocrinology & Metabolism
Valeria Vezzoli, Faris Hrvat, Giovanni Goggi, Silvia Federici, Biagio Cangiano, Richard Quinton, Luca Persani, Marco Bonomi
Summary: Distinguishing between self-limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) can be challenging due to their similar clinical and biochemical characteristics. However, SLDP is typically transient while CHH is a lifelong condition. Differentiating between these two conditions is important because their natural history and long-term outcomes differ significantly. Genetic analysis using next-generation sequencing technology (NGS) has the potential to aid in the differential diagnosis between SLDP and CHH, providing an updated overview of their genetic architecture.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Byorn W. L. Tan, Bryce W. Q. Tan, Amelia L. M. Tan, Emily R. Schriver, Alba Gutierrez-Sacristan, Priyam Das, William Yuan, Meghan R. Hutch, Noelia Garcia Barrio, Miguel Pedrera Jimenez, Noor Abu-el-rub, Michele Morris, Bertrand Moal, Guillaume Verdy, Kelly Cho, Yuk-Lam Ho, Lav P. Patel, Arianna Dagliati, Antoine Neuraz, Jeffrey G. Klann, Andrew M. South, Shyam Visweswaran, David A. Hanauer, Sarah E. Maidlow, Mei Liu, Danielle L. Mowery, Ashley Batugo, Adeline Makoudjou, Patric Tippmann, Daniela Zoeller, Gabriel A. Brat, Yuan Luo, Paul Avillach, Riccardo Bellazzi, Luca Chiovato, Alberto Malovini, Valentina Tibollo, Malarkodi Jebathilagam Samayamuthu, Pablo Serrano Balazote, Zongqi Xia, Ne Hooi Will Loh, Lorenzo Chiudinelli, Clara-Lea Bonzel, Chuan Hong, Harrison G. Zhang, Griffin M. Weber, Isaac S. Kohane, Tianxi Cai, Gilbert S. Omenn, John H. Holmes, Kee Yuan Ngiam
Summary: This retrospective observational study analyzed data from 12,891 COVID-19 patients and found that age, severe COVID-19, severe acute kidney injury (AKI), and ischemic heart disease were associated with worse mortality outcomes. The severity of AKI was associated with poorer kidney function recovery, while the use of remdesivir was associated with better recovery. In patients without chronic kidney disease, age, male sex, severe AKI, and hypertension were associated with post-AKI kidney function impairment. COVID-19-associated AKI was also linked to higher mortality and worse long-term kidney function recovery.
Article
Endocrinology & Metabolism
Fortunato Lombardo, Stefano Passanisi, Angela Alibrandi, Bruno Bombaci, Riccardo Bonfanti, Maurizio Delvecchio, Francesca Di Candia, Enza Mozzillo, Elvira Piccinno, Claudia Anita Piona, Andrea Rigamonti, Francesco Scialabba, Claudio Maffeis, Giuseppina Salzano
Summary: The aim of this multicenter observational study was to investigate glycemic outcomes in children and adolescents with type 1 diabetes over the first 6 months of using MiniMed (TM) 780G. The study found that MiniMed 780G was effective and safe in the pediatric population.
DIABETES TECHNOLOGY & THERAPEUTICS
(2023)
Editorial Material
Biochemistry & Molecular Biology
Maurizio Delvecchio
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Alessandro Salina, Marta Bassi, Concetta Aloi, Marina Francesca Strati, Renata Bocciardi, Giuseppe d'Annunzio, Mohamad Maghnie, Nicola Minuto
Summary: Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes mellitus (DM) that accounts for a small portion of all types of diabetes. In Italy, GCK/MODY is the most common form caused by mutations of the glucokinase (GCK). A study in Italy found a specific mutation of the GCK gene that may lead to a more severe form of GCK/MODY. This mutation, named the "pesto mutation," is believed to have a possible founder effect as all patients with this variant come from the same geographic area (Liguria).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Health Care Sciences & Services
Susanna Esposito, Cristiano Rosafio, Francesco Antodaro, Alberto Argentiero, Marta Bassi, Paolo Becherucci, Fabio Bonsanto, Andrea Cagliero, Giulia Cannata, Fabio Capello, Fabio Cardinale, Tiziana Chiriaco, Alessandro Consolaro, Angelica Dessi, Giuseppe Di Mauro, Valentina Fainardi, Vassilios Fanos, Alfredo Guarino, Giada Li Calzi, Elisa Lodi, Mohamad Maghnie, Luca Manfredini, Emanuela Malorgio, Nicola Minuto, Maria Grazia Modena, Rossano Montori, Andrea Moscatelli, Elisa Patrone, Elena Pescio, Marco Poeta, Angelo Ravelli, Maddalena Spelta, Agnese Suppiej, Sergio Vai, Luca Villa, Rinaldo Zanini, Renato Botti, Antonio Vittorino Gaddi
Summary: Telemedicine has become a part of doctors' daily lives, but healthcare professionals still need to improve their digital skills. To promote the development of telemedicine, it is important to build trust among healthcare professionals and patients. This consensus document aims to define the information and training aspects of telemedicine for pediatric patients, caregivers, and healthcare professionals. It emphasizes the importance of lifelong learning and integration of various professionals' skills in order to improve digital healthcare.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Biology
Marta Bassi, Daniele Franzone, Francesca Dufour, Marina Francesca Strati, Marta Scalas, Giacomo Tantari, Concetta Aloi, Alessandro Salina, Giuseppe d'Annunzio, Mohamad Maghnie, Nicola Minuto
Summary: The introduction of insulin pumps, especially advanced hybrid closed loop systems (AHCL), has greatly impacted the lifestyle and prognosis of Type 1 Diabetes (T1D) patients. Emerging data consistently confirm the improvement in glycemic control due to technological advancements in this disease. The use of these devices not only enhances patients' health but also improves their daily routines. However, limited research exists on the use of new devices in different patient populations, particularly in different age groups and types of diabetes. This review aims to highlight the characteristics and efficacy of each available Automated Insulin Delivery (AID) system for T1D patients, focusing on diverse age groups and populations, such as children and pregnant women.
Article
Biology
Concetta Aloi, Alessandro Salina, Francesco Caroli, Renata Bocciardi, Barbara Tappino, Marta Bassi, Nicola Minuto, Giuseppe d'Annunzio, Mohamad Maghnie
Summary: Next-generation sequencing (NGS) has revolutionized genomics and provided new opportunities for basic research. We used Ion AmpliSeq technology combined with Ion-PGM to validate a dysglycaemia panel of 44 genes related to glucose metabolism disorders. By optimizing the methodology with previously genotyped samples, we achieved high sensitivity in detecting point mutations and identified additional variants of unknown significance. The NGS panel enabled us to quickly identify pathogenic variants in multiple genes, which is crucial for optimal treatment in children and young adults.
Article
Endocrinology & Metabolism
Peter Bang, Michel Polak, Artur Bossowski, Mohamad Maghnie, Jesus Argente, Marta Ramon-Krauel, Caroline Sert, Valerie Perrot, Sarah Mazain, Joachim Woelfle
Summary: This analysis of the Eu-IGFD data aimed to identify the frequency and predictive factors for hypoglycemia adverse events (AEs) in children treated with rhIGF-1. The results showed that patients with a prior history of hypoglycemia and/or Laron syndrome were more likely to experience hypoglycemia AEs, and they should be carefully monitored throughout treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
C. Cacciatore, B. Cangiano, E. Carbone, S. Spagnoli, M. P. Cid Ramirez, N. Polli, M. Bonomi, L. Persani
Summary: This study investigated factors influencing functional hypothalamic amenorrhea in patients with anorexia nervosa. The findings suggest that amenorrhea is not strictly correlated with body weight variations and has a multifactorial origin. Higher FT3 levels identify patients who continue having menses at extremely low BMI. Patients with persistent amenorrhea should consider using estroprogestins after significant weight recovery to prevent prolonged tissue hypoestrogenism.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Endocrinology & Metabolism
Giuseppa Patti, Marco Scaglione, Nadia Gabriella Maiorano, Giulia Rosti, Maria Teresa Divizia, Tiziana Camia, Elena Lucia De Rose, Alice Zucconi, Emilio Casalini, Flavia Napoli, Natascia Di Iorgi, Mohamad Maghnie
Summary: In this narrative review, the authors summarized the available data on puberty and gonadal function in Noonan syndrome (NS) subjects and discussed the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. NS patients tend to have a delay in puberty onset compared to healthy children, and males with NS are at risk of gonadal dysfunction due to factors including cryptorchidism, the MAP/MAPK pathway, and genetics. Long-term studies on a large cohort of NS patients are needed to better understand the impact of delayed puberty on adult height, metabolic profile, and well-being. Genetic counseling and fertility-related issues are crucial.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Laura Croce, Cristina Pallavicini, Noemi Busca, Benedetto Cali, Giuseppe Bellastella, Francesca Coperchini, Flavia Magri, Luca Chiovato, Hellas Cena, Mario Rotondi
Summary: A prospective study was conducted to assess the efficacy of dietetic intervention in preventing post-thyroidectomy weight gain. The results showed that personalized pre-surgery diet counseling was effective in preventing weight gain after thyroidectomy.