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Endocrinology

This section considers studies regarding all aspects of endocrinology and diabetology in children and adolescents.

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  1. Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a first case of central precocious puberty (CPP) caused by PROKR2 heterozygous g...

    Authors: Francesca Aiello, Grazia Cirillo, Alessandra Cassio, Raffaella Di Mase, Gianluca Tornese, Giuseppina R. Umano, Emanuele Miraglia del Giudice and Anna Grandone

    Citation: Italian Journal of Pediatrics 2021 47:5

    Content type: Research

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  2. Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-...

    Authors: Hongping Sun, Lin Cao, Rendong Zheng, Shaofeng Xie and Chao Liu

    Citation: Italian Journal of Pediatrics 2020 46:168

    Content type: Review

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  3. The timing of puberty in girls is occurring at an increasingly early age. While a positive family history is recognised as a predisposing factor for early or precocious puberty, the role of environmental facto...

    Authors: Stefano Stagi, Salvatore De Masi, Erica Bencini, Stefania Losi, Silvia Paci, Maria Parpagnoli, Franco Ricci, Daniele Ciofi and Chiara Azzari

    Citation: Italian Journal of Pediatrics 2020 46:165

    Content type: Research

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  4. Recurrent diabetic ketoacidosis in patients with known diabetes mellitus remains a relevant problem in pediatrics with an incidence of 1–10% per patient. Children may die because of cerebral edema and had a si...

    Authors: Birtukan Assefa, Haymanot Zeleke, Rajalakshmi Murugan and Kalkidan Wondwossen

    Citation: Italian Journal of Pediatrics 2020 46:164

    Content type: Research

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  5. The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indi...

    Authors: Silvia Vannelli, Maria Baffico, Raffaele Buganza, Francesca Verna, Giulia Vinci, Daniele Tessaris, Gianpaolo Di Rosa, Alberto Borraccino and Luisa de Sanctis

    Citation: Italian Journal of Pediatrics 2020 46:163

    Content type: Research

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  6. A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrop...

    Authors: Stefania Pedicelli, Luca de Palma, Caterina Pelosini and Marco Cappa

    Citation: Italian Journal of Pediatrics 2020 46:158

    Content type: Case report

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  7. Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients p...

    Authors: Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Maja Klaudel-Dreszler, Grzegorz Oracz, Joanna Pawłowska and Mieczysław Szalecki

    Citation: Italian Journal of Pediatrics 2020 46:151

    Content type: Research

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  8. Congenital Hyperinsulinism typically occurs with a neonatal hypoglycemia but can appear even in childhood or in adolescence with different types of glucose metabolism derangements. Current diagnostic algorithm...

    Authors: Alberto Casertano, Arianna De Matteis, Enza Mozzillo, Francesco Maria Rosanio, Pietro Buono, Valentina Fattorusso and Adriana Franzese

    Citation: Italian Journal of Pediatrics 2020 46:131

    Content type: Research

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  9. In internationally adopted children disorders of linear growth, puberty development, thyroid function, and bone metabolism are frequently reported. It is important that these children receive careful auxologic...

    Authors: Stefano Stagi, Valeria Papacciuoli, Djibril Boiro, Chiara Maggioli, Niane Ndeye Ndambao, Stefania Losi, Elena Chiappini, Sonia Toni and Ousmane Ndiaye

    Citation: Italian Journal of Pediatrics 2020 46:82

    Content type: Review

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  11. Pubertal timing is known to be influenced by interactions among various genetic, nutritional, environmental and socio-economic factors, although the ultimate mechanisms underlying the increase in pulsatile GnR...

    Authors: Sara Pagani, Valeria Calcaterra, Gloria Acquafredda, Chiara Montalbano, Elena Bozzola, Pietro Ferrara, Manuela Gasparri, Alberto Villani and Mauro Bozzola

    Citation: Italian Journal of Pediatrics 2020 46:39

    Content type: Research

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  12. Type 1 diabetes (T1D) has been associated with a higher fracture risk due to alterations in bone structure and metabolism. On the other hand, the important role of the RANKL/OPG/RANK signaling axis in bone phy...

    Authors: Paraskevi Karalazou, Dimitrios Ntelios, Fani Chatzopoulou, Aikaterini Fragou, Maria Taousani, Konstantina Mouzaki, Assimina Galli-Tsinopoulou, Sofia Kouidou and Georgios Tzimagiorgis

    Citation: Italian Journal of Pediatrics 2019 45:161

    Content type: Research

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  13. Recombinant human growth hormone (rhGH) is an approved and effective treatment for short children born small for gestational age (SGA). Prevalence of children eligible for treatment as SGA is reported to be 1:...

    Authors: Gianluca Tornese, Flavia Pricci, Maria Chiara Pellegrin, Marika Villa, Daniela Rotondi, Elvira Agazio and Egidio Barbi

    Citation: Italian Journal of Pediatrics 2019 45:130

    Content type: Commentary

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  14. Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short statu...

    Authors: Maria Cristina Maggio and Giovanni Corsello

    Citation: Italian Journal of Pediatrics 2019 45:100

    Content type: Letter to the Editor

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  15. Thyroid cancer (TC) in childhood is a rare disease characterized by an excellent prognosis. Thyroid nodules in children, although less common than in adults, have a greater risk of malignancies, particularly i...

    Authors: Giuseppina Zirilli, Giuseppina Salzano, Domenico Corica, Giovanni Battista Pajno, Cristina Mignosa, Giorgia Pepe, Filippo De Luca and Giuseppe Crisafulli

    Citation: Italian Journal of Pediatrics 2019 45:96

    Content type: Commentary

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  16. The treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated. The short- an...

    Authors: A. Cattoni, S. Motta, N. Masera, S. Gasperini, A. Rovelli and R. Parini

    Citation: Italian Journal of Pediatrics 2019 45:93

    Content type: Case report

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  17. Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder. A major feature is lateralized overgrowth, which can variably involve a single body district up to the entire hemisome. Visceral asym...

    Authors: Maria Chiara Pellegrin, Alessandro Mauro Spinelli, Gianluca Tornese and Egidio Barbi

    Citation: Italian Journal of Pediatrics 2019 45:79

    Content type: Case report

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  18. X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms ar...

    Authors: F. Emma, M. Cappa, F. Antoniazzi, M. L. Bianchi, I. Chiodini, C. Eller Vainicher, N. Di Iorgi, M. Maghnie, A. Cassio, A. Balsamo, F. Baronio, L. de Sanctis, D. Tessaris, G. I. Baroncelli, S. Mora, M. L. Brandi…

    Citation: Italian Journal of Pediatrics 2019 45:67

    Content type: Research

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  19. The choice of the sex of rearing in patients with ovotesticular differences of sex development (OT-DSD) is difficult. The final decision should be given by the patient himself or herself, but families’ opinion...

    Authors: Maria-Grazia Scarpa, Arianna Lesma, Massimo Di Grazia and Waifro Rigamonti

    Citation: Italian Journal of Pediatrics 2019 45:66

    Content type: Case report

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  20. Childhood obesity has been correlated with coronary heart disease, but the correlation with microvascular disease remains unclear. The retinal microcirculation is affected early in the process of atheroscleros...

    Authors: Carla Bizzarri, Stefania Pedicelli, Antonino Romanzo, Sarah Bocchini, Giorgia Bottaro, Stefano Cianfarani and Marco Cappa

    Citation: Italian Journal of Pediatrics 2019 45:52

    Content type: Research

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  21. Hypophosphatemia has many causes, and is often encountered during DKA (Diabetic Ketoacidosis) treatment. However, it rarely requires clinical intervention.

    Authors: Konrad Miszczuk, Joanna Mroczek-Wacinska, Robert Piekarski, Beata Wysocka- Lukasik, Renata Jawniak and Iwona Ben-Skowronek

    Citation: Italian Journal of Pediatrics 2019 45:42

    Content type: Case report

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  23. Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-c...

    Authors: Nosrat Ghaemi, Martha Ghahraman, Samaneh Noroozi Asl, Rahim Vakili, Fatemeh Fardi Golyan, Meysam Moghbeli and Mohammad Reza Abbaszadegan

    Citation: Italian Journal of Pediatrics 2019 45:10

    Content type: Research

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  24. Hepatic glycogenosis is characterized by excessive glycogen accumulation in hepatocytes and represents a complication of poor controlled type 1 diabetes. It can be caused by excessive insulin doses or recurren...

    Authors: Fortunato Lombardo, Stefano Passanisi, Albino Gasbarro, Giovanni Tuccari, Antonio Ieni and Giuseppina Salzano

    Citation: Italian Journal of Pediatrics 2019 45:3

    Content type: Case report

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  25. Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse ...

    Authors: Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica and Stefano Stagi

    Citation: Italian Journal of Pediatrics 2018 44:138

    Content type: Case report

    Published on:

  26. Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we...

    Authors: Tommaso Aversa, Giuseppina Zirilli, Domenico Corica, Filippo De Luca and Malgorzata Wasniewska

    Citation: Italian Journal of Pediatrics 2018 44:136

    Content type: Commentary

    Published on:

  27. One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correl...

    Authors: Maria Cristina Maggio, Beatrice Vergara, Paolo Porcelli and Giovanni Corsello

    Citation: Italian Journal of Pediatrics 2018 44:113

    Content type: Research

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  28. Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which p...

    Authors: Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz and Paolo Cavarzere

    Citation: Italian Journal of Pediatrics 2018 44:110

    Content type: Case report

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  29. The Italian Consensus Position Statement on Diagnosis, Treatment and Prevention of Obesity in Children and Adolescents integrates and updates the previous guidelines to deliver an evidence based approach to th...

    Authors: Giuliana Valerio, Claudio Maffeis, Giuseppe Saggese, Maria Amalia Ambruzzi, Antonio Balsamo, Simonetta Bellone, Marcello Bergamini, Sergio Bernasconi, Gianni Bona, Valeria Calcaterra, Teresa Canali, Margherita Caroli, Francesco Chiarelli, Nicola Corciulo, Antonino Crinò, Procolo Di Bonito…

    Citation: Italian Journal of Pediatrics 2018 44:88

    Content type: Review

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  30. Predictors of hypovitaminosis D were extensively studied in the adult population, leading to an approximately complete understanding of them, while there is a lack of studies in the pediatric population, espec...

    Authors: Gilda Salerno, Manuela Ceccarelli, Chiara de Waure, Marianna D’Andrea, Danilo Buonsenso, Valerio Faccia, Davide Pata and Piero Valentini

    Citation: Italian Journal of Pediatrics 2018 44:86

    Content type: Research

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  31. Cryptorchidism, the most common male genital abnormality observed in paediatrics, might often be associated with long-term functional consequences and can even reoccur after a successful orchidopexy. Serum mar...

    Authors: Susanna Esposito, Marta Cofini, Donato Rigante, Alberto Leonardi, Laura Lucchetti, Clelia Cipolla, Lucia Lanciotti and Laura Penta

    Citation: Italian Journal of Pediatrics 2018 44:81

    Content type: Review

    Published on:

  32. Vitamin D plays a pivotal role in the regulation of calcium-phosphorus metabolism, particularly during pediatric age when nutritional rickets and impaired bone mass acquisition may occur.

    Authors: Giuseppe Saggese, Francesco Vierucci, Flavia Prodam, Fabio Cardinale, Irene Cetin, Elena Chiappini, Gian Luigi de’ Angelis, Maddalena Massari, Emanuele Miraglia Del Giudice, Michele Miraglia Del Giudice, Diego Peroni, Luigi Terracciano, Rino Agostiniani, Domenico Careddu, Daniele Giovanni Ghiglioni, Gianni Bona…

    Citation: Italian Journal of Pediatrics 2018 44:51

    Content type: Review

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  33. Aim of this commentary is to analyze the relationships between genotypic bases and phenotypic expression of congenital “multiple pituitary hormone deficiency” (MPHD) syndrome and to indicate some reliable crit...

    Authors: Giuseppe Crisafulli, Tommaso Aversa, Giuseppina Zirilli, Filippo De Luca, Romina Gallizzi and Malgorzata Wasniewska

    Citation: Italian Journal of Pediatrics 2018 44:47

    Content type: Commentary

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  34. The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing mal...

    Authors: Giada Zanella, Gianluca Tornese, Elisabetta Mascheroni, Elena Faleschini, Alessandro Ventura and Egidio Barbi

    Citation: Italian Journal of Pediatrics 2018 44:43

    Content type: Case report

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  35. Vitamin D and intact parathyroid hormone (iPTH) play a crucial role in calcium homeostasis and bone health of children. Serum level of 25-hydroxyvitamin D (25-OHD) is considered to be the most accurate marker ...

    Authors: Ozlem Naciye Sahin, Muhittin Serdar, Mustafa Serteser, Ibrahim Unsal and Aysel Ozpinar

    Citation: Italian Journal of Pediatrics 2018 44:40

    Content type: Research

    Published on:

  36. Aim of this commentary is to report the main peculiarities that have been found to characterize the phenotypic expression of autoimmune thyroid diseases (AITDs) in children with Down’s syndrome (DS). According...

    Authors: Tommaso Aversa, Giuseppe Crisafulli, Giuseppina Zirilli, Filippo De Luca, Romina Gallizzi and Mariella Valenzise

    Citation: Italian Journal of Pediatrics 2018 44:39

    Content type: Commentary

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  37. Aim of this commentary is to report current knowledges on the main clinical and metabolic abnormalities which might be observed in children with longstanding and untreated subclinical hypothyroidism (SH) and t...

    Authors: R. Gallizzi, C. Crisafulli, T. Aversa, G. Salzano, F. De Luca, M. Valenzise and G. Zirilli

    Citation: Italian Journal of Pediatrics 2018 44:25

    Content type: Commentary

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  38. Puberty is a critical age for patients with Turner syndrome (TS): infertility is reported to be linked to karyotype and spontaneous puberty and menarche occur in approximately 30% of patients, especially in mo...

    Authors: M. C. Maggio, A. De Pietro, P. Porcelli, F. Serraino, T. Angileri, A. Di Peri and G. Corsello

    Citation: Italian Journal of Pediatrics 2018 44:24

    Content type: Letter to the Editor

    Published on:

  39. Aim of this commentary is to summarize the salient literature views on the relationships between presentation and evolution patterns of thyroid function in children with Hashimoto’s thyroiditis (HT).

    Authors: Giuseppe Crisafulli, Romina Gallizzi, Tommaso Aversa, Giuseppina Salzano, Mariella Valenzise, Malgorzata Wasniewska, Filippo De Luca and Giuseppina Zirilli

    Citation: Italian Journal of Pediatrics 2018 44:22

    Content type: Commentary

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  40. The available studies concerning the influence of age on the phenotypical expression of differentiated thyroid carcinoma (DTC) have hitherto compared DTC presentation either between pre-pubertal and pubertal c...

    Authors: Giuseppina Zirilli, Laura Cannavò, Francesco Vermiglio, Maria Antonia Violi, Filippo De Luca and Malgorzata Wasniewska

    Citation: Italian Journal of Pediatrics 2018 44:13

    Content type: Research

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  41. Aim of this commentary is to analyze the current views about the phenotypic features of Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) in Turner syndrome (TS) girls, in terms of epidemiology, clinical a...

    Authors: Tommaso Aversa, Romina Gallizzi, Giuseppina Salzano, Giuseppina Zirilli, Filippo De Luca and Mariella Valenzise

    Citation: Italian Journal of Pediatrics 2018 44:12

    Content type: Commentary

    Published on:

  42. Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screen...

    Authors: Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot and Franco Antoniazzi

    Citation: Italian Journal of Pediatrics 2018 44:10

    Content type: Research

    Published on:

  43. There is increasing recognition that sleep is a risk factor for metabolic syndrome (MetS). The aim of the present study was to analyze the relationship between self-reported sleep duration, sleep-related probl...

    Authors: Leonardo Pulido-Arjona, Jorge Enrique Correa-Bautista, Cesar Agostinis-Sobrinho, Jorge Mota, Rute Santos, María Correa-Rodríguez, Antonio Garcia-Hermoso and Robinson Ramírez-Vélez

    Citation: Italian Journal of Pediatrics 2018 44:9

    Content type: Research

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  45. Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation...

    Authors: Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa de Sanctis, Gianni Bona, Simonetta Bellone and Flavia Prodam

    Citation: Italian Journal of Pediatrics 2017 43:94

    Content type: Case report

    Published on:

  47. Growth hormone deficiency (GHD) is a relatively uncommon and heterogeneous endocrine disorder presenting in childhood with short stature. However, during the neonatal period, the metabolic effects of GHD may t...

    Authors: Stefano Stagi, Perla Scalini, Giovanni Farello and Alberto Verrotti

    Citation: Italian Journal of Pediatrics 2017 43:81

    Content type: Review

    Published on:

  48. Although the autoimmune polyglandular syndrome type 3 (APS-3) is the commonest APS that may be encountered in pediatric age, last year literature includes only few studies aiming to specifically ascertain the ...

    Authors: Mariella Valenzise, Tommaso Aversa, Angiola Saccomanno, Filippo De Luca and Giuseppina Salzano

    Citation: Italian Journal of Pediatrics 2017 43:69

    Content type: Research

    Published on:

  49. Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tal...

    Authors: Cristina Meazza, Chiara Gertosio, Roberta Giacchero, Sara Pagani and Mauro Bozzola

    Citation: Italian Journal of Pediatrics 2017 43:66

    Content type: Review

    Published on:

  50. Short stature (SS) is a relatively early sign of poor health. Only in 5% of cases we can explain it through the presence of endocrinological pathologies. Therefore, if SS is present since the first months of l...

    Authors: Paolo Cavarzere, Valentina Bortolotti, Michela Capogna, Margherita Guarnieri, Francesca Lucca, Rossella Gaudino, Stefano Marzini, Claudia Banzato and Franco Antoniazzi

    Citation: Italian Journal of Pediatrics 2017 43:64

    Content type: Case report

    Published on:

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