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  1. The mucopolysaccharidoses (MPS) are clinically similar but also heterogeneous in terms of major or minor involvement of different organs/systems, burden of disease, and rate of progression. The attenuated form...

    Authors: Miriam Rigoldi, Elena Verrecchia, Raffaele Manna and Maria Teresa Mascia

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):132

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  2. The mucopolysaccharidoses (MPS) are a heterogeneous group of in-born metabolic conditions caused by genetic defects that result in the absence or severe deficiency of one of the lysosomal hydrolases responsibl...

    Authors: Cinzia M. Bellettato and Maurizio Scarpa

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):131

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  3. Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency in lysosomal enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs). The current therapeutic stra...

    Authors: Alessandro Fraldi, Marta Serafini, Nicolina Cristina Sorrentino, Bernhard Gentner, Alessandro Aiuti and Maria Ester Bernardo

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):130

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  4. Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are al...

    Authors: Mirella Filocamo, Rosella Tomanin, Francesca Bertola and Amelia Morrone

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):129

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  5. A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typ...

    Authors: Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi…

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):128

    Content type: Case Report

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  6. The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GA...

    Authors: Pier Marco Bianchi, Renato Gaini and Silvano Vitale

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):127

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  7. Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outc...

    Authors: Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo and Alberto Burlina

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):126

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

    The Correction to this article has been published in Italian Journal of Pediatrics 2019 45:71

  8. Enzyme replacement therapy is currently considered the standard of care for the treatment of mucopolysaccharidoses (MPS) type I, II, VI, and IV. This approach has shown substantial efficacy mainly on somatic s...

    Authors: Simona Fecarotta, Serena Gasperini and Giancarlo Parenti

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):124

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  9. Mucopolysaccharidoses (MPS) are a group of diseases characterized by abnormal accumulation of glycosaminoglycans (GAGs). Although there are differences among the various disease types, the osteoarticular syste...

    Authors: Andrea Borgo, Andrea Cossio, Denise Gallone, Francesca Vittoria and Marco Carbone

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):123

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  10. Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glycosaminoglycans (GAGs) and characterized by a wide variability of phenotypes from severe fetal-neonatal forms t...

    Authors: Lucia Boffi, Pierluigi Russo and Giuseppe Limongelli

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):122

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  11. Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuro...

    Authors: Rita Barone, Alessandra Pellico, Annarita Pittalà and Serena Gasperini

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):121

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  12. Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a...

    Authors: Daniela Concolino, Federica Deodato and Rossella Parini

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):120

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  13. This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities i...

    Authors: Vincenzo Spina, Domenico Barbuti, Alberto Gaeta, Stefano Palmucci, Ernesto Soscia, Marco Grimaldi, Antonio Leone, Renzo Manara and Gabriele Polonara

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):118

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  14. Mucopolysaccharidoses (MPS) are genetic, progressive, lysosomal storage disorders affecting virtually all organs and systems. The first MPS were clinically identified about 100 years ago. Nowadays, the enzyme ...

    Authors: Rossella Parini and Andrea Biondi

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):117

    Content type: Introduction

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  15. Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. The evidence base for anesthesia management...

    Authors: Alessandra Moretto, Maria Grazia Bosatra, Laura Marchesini and Simonetta Tesoro

    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):116

    Content type: Review

    Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  16. Among breastfeeding determinants, the marketing of breast milk substitutes might contribute to suboptimal breastfeeding rates. The aim of this study was to investigate the effect of receiving information on br...

    Authors: Fabio Mosca, Paola Roggero, Francesca Garbarino, Daniela Morniroli, Beatrice Bracco, Laura Morlacchi, Domenica Mallardi, Maria Lorella Gianni and Dario Consonni

    Citation: Italian Journal of Pediatrics 2018 44:134

    Content type: Research

    Published on:

  17. Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the ma...

    Authors: Carlotta Spagnoli, Raffaele Falsaperla, Michela Deolmi, Giovanni Corsello and Francesco Pisani

    Citation: Italian Journal of Pediatrics 2018 44:115

    Content type: Review

    Published on:

  18. Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, ...

    Authors: Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi and Jayesh Sheth

    Citation: Italian Journal of Pediatrics 2018 44:114

    Content type: Case report

    Published on:

  19. 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

    Published on:

  20. Viral respiratory infections may promote bacterial super-infection decreasing the host immune response efficiency. However, using a mice model we recently demonstrated that preventive treatment with the bacter...

    Authors: Giovanni A. Rossi, Wolfgang Bessler, Stefania Ballarini and Christian Pasquali

    Citation: Italian Journal of Pediatrics 2018 44:112

    Content type: Research

    Published on:

  21. Fetal supraventricular tachycardia (SVT), characterized by fetal heart rate between 220 and 260 bpm, is a rare but most commonly encountered fetal cardiac arrhythmia in pregnancy that may be associated with ad...

    Authors: Vincenzo Zanardo, Alphonse Simbi, Matteo Parotto, Lorenzo Severino, Riccardo Carta, Pietro Guerrini and Gianluca Straface

    Citation: Italian Journal of Pediatrics 2018 44:111

    Content type: Case report

    Published on:

    The Correction to this article has been published in Italian Journal of Pediatrics 2019 45:21

  22. 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

    Published on:

  23. Globally Less than one fourth of children aged 6–23 months get the recommended minimum dietary diversity feeding practice. Despite this issue is common in Ethiopia, fragmented and inconsistent findings were fo...

    Authors: Habtamu Temesgen, Ayenew Negesse, Wubetu Woyraw and Nakachew Mekonnen

    Citation: Italian Journal of Pediatrics 2018 44:109

    Content type: Review

    Published on:

  24. Anemia is a public health problem affecting both developed and developing countries. Childhood anemia is associated with serious consequences including growth retardation, impaired motor and cognitive developm...

    Authors: Mulugeta Melku, Kefyalew Addis Alene, Betelihem Terefe, Bamlaku Enawgaw, Belete Biadgo, Molla Abebe, Kindie Fentahun Muchie, Asemarie Kebede, Tadele Melak and Tsedalu Melku

    Citation: Italian Journal of Pediatrics 2018 44:107

    Content type: Research

    Published on:

  25. In adult studies the MTHFR C677T polymorphism has been associated with an increased risk of migraine, but little research has been done in this area in children.

    Authors: A. Orsini, I. Sammartino, A. Valetto, V. Bertini, P. Marchese, A. Bonuccelli and D. G. Peroni

    Citation: Italian Journal of Pediatrics 2018 44:106

    Content type: Research

    Published on:

  26. This second part of practical Guidelines related to Kawasaki disease (KD) has the goal of contributing to prompt diagnosis and most appropriate treatment of KD resistant forms and cardiovascular complications,...

    Authors: Alessandra Marchesi, Isabella Tarissi de Jacobis, Donato Rigante, Alessandro Rimini, Walter Malorni, Giovanni Corsello, Grazia Bossi, Sabrina Buonuomo, Fabio Cardinale, Elisabetta Cortis, Fabrizio De Benedetti, Andrea De Zorzi, Marzia Duse, Domenico Del Principe, Rosa Maria Dellepiane, Livio D’Isanto…

    Citation: Italian Journal of Pediatrics 2018 44:103

    Content type: Review

    Published on:

  27. The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists’ contributions in the fie...

    Authors: Alessandra Marchesi, Isabella Tarissi de Jacobis, Donato Rigante, Alessandro Rimini, Walter Malorni, Giovanni Corsello, Grazia Bossi, Sabrina Buonuomo, Fabio Cardinale, Elisabetta Cortis, Fabrizio De Benedetti, Andrea De Zorzi, Marzia Duse, Domenico Del Principe, Rosa Maria Dellepiane, Livio D’Isanto…

    Citation: Italian Journal of Pediatrics 2018 44:102

    Content type: Review

    Published on:

  28. The neonatal period is only 1/60th of the first 5 years of life but it accounts for 63% of all infant deaths and 44% of all under-five deaths in Ethiopia. Most causes of neonatal death are preventable with clean ...

    Authors: Tadese Ejigu Tafere, Mesganaw Fanthahun Afework and Alemayehu Worku Yalew

    Citation: Italian Journal of Pediatrics 2018 44:105

    Content type: Research

    Published on:

  29. The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on ...

    Authors: Rosaria Turchetta, Guido Conti, Pasquale Marsella, Maria Patrizia Orlando, Pasqualina Maria Picciotti, Simonetta Frezza, Francesca Yoshie Russo, Alessandro Scorpecci, Maria Gloria Cammeresi, Sara Giannantonio, Antonio Greco and Massimo Ralli

    Citation: Italian Journal of Pediatrics 2018 44:104

    Content type: Research

    Published on:

  30. Parenteral nutrition-associated cholestasis (PNAC) is a serious complication in preterm infants receiving prolonged parenteral nutrition. Soybean lipid emulsion (SLE) seems to have a role in its pathogenesis, ...

    Authors: Simonetta Costa, Rossella Iannotta, Luca Maggio, Giovanni Barone, Francesca Serrao and Giovanni Vento

    Citation: Italian Journal of Pediatrics 2018 44:101

    Content type: Research

    Published on:

  31. The relation between nasal flow and malocclusion represents a practical concern to pediatricians, otorhinolaryngologists, orthodontists, allergists and speech therapists. If naso-respiratory function may influ...

    Authors: Francesca Occasi, Ludovica Perri, Matteo Saccucci, Gabriele Di Carlo, Gaetano Ierardo, Valeria Luzzi, Giovanna De Castro, Giulia Brindisi, Lorenzo Loffredo, Marzia Duse, Antonella Polimeni and Anna Maria Zicari

    Citation: Italian Journal of Pediatrics 2018 44:100

    Content type: Review

    Published on:

  32. Continuous glucose monitoring using subcutaneous sensors is useful in the management of glucose control in neonatal intensive care. We evaluated feasibility and reliability of a continuous glucose monitoring s...

    Authors: Alessandro Perri, Lucia Giordano, Mirta Corsello, Francesca Priolo, Giovanni Vento, Enrico Zecca and Eloisa Tiberi

    Citation: Italian Journal of Pediatrics 2018 44:99

    Content type: Research

    Published on:

  33. Congenital space-occupying thoracic malformations and diaphragmatic hernia have in common pulmonary hypoplasia. Our study aims to assess cardiac involvement during post-natal adaptation.

    Authors: Ingrid Anne Mandy Schierz, Mario Giuffrè, Ettore Piro, Maria Clara Leone, Giuseppa Pinello and Giovanni Corsello

    Citation: Italian Journal of Pediatrics 2018 44:98

    Content type: Research

    Published on:

  34. Henoch-Schönlein purpura nephritis (HSPN) is the most common pediatric secondary glomerular disease. This study aimed to investigate the significance of glomerular fibrinogen (Fib) deposition in children with ...

    Authors: Fengying Wang, Lusheng Huang, Hangyun Tang, Xiaozhong Li, Xueming Zhu and Xingdong Wang

    Citation: Italian Journal of Pediatrics 2018 44:97

    Content type: Research

    Published on:

  35. Human milk (HM) is the best feeding for premature infants. When own mother’s milk (OMM) is insufficient or unavailable, pasteurized donor human milk (PDHM) and preterm formula (PF) are the alternative nutritio...

    Authors: Simonetta Costa, Luca Maggio, Giovanni Alighieri, Giovanni Barone, Francesco Cota and Giovanni Vento

    Citation: Italian Journal of Pediatrics 2018 44:96

    Content type: Research

    Published on:

  36. In the sub-Saharan countries, many of the children including found in health facilities are not having sufficient care of diarrhea. Diarrheal disease in these countries is one of the main causes of deaths for ...

    Authors: Atalay Getachew, Alebachew Tadie, Mulat G.Hiwot, Tadesse Guadu, Daniel Haile, Teklay G.Cherkos, Zemichael Gizaw and Marta Alemayehu

    Citation: Italian Journal of Pediatrics 2018 44:95

    Content type: Research

    Published on:

  37. In childhood B-precursor acute lymphoblastic leukemia (B-ALL), the ETV6/RUNX1 fusion transcript is considered to have an excellent outcome. However, few studies of children with ETV6/RUNX1-positive ALL from China...

    Authors: Yu Wang, Hui-min Zeng and Le-ping Zhang

    Citation: Italian Journal of Pediatrics 2018 44:94

    Content type: Research

    Published on:

  38. Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a serious life-treating condition characterized by skin eruption, fever, haematologic abnormalities, and multi-organ involvement that c...

    Authors: Massimo Luca Castellazzi, Susanna Esposito, Laura Elisabetta Claut, Valeria Daccò and Carla Colombo

    Citation: Italian Journal of Pediatrics 2018 44:93

    Content type: Case report

    Published on:

  39. It has been shown that approximately half of survivors of childhood acute lymphoblastic leukemia (ALL) have symptomatic late effects (LE) that may be severe or life-threatening. The aim of our study was to ass...

    Authors: Kinga Kwiecinska, Wojciech Strojny, Danuta Pietrys, Miroslaw Bik-Multanowski, Maciej Siedlar, Walentyna Balwierz and Szymon Skoczen

    Citation: Italian Journal of Pediatrics 2018 44:92

    Content type: Research

    Published on:

  40. Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH...

    Authors: Luciano De Simone, Laura Capirchio, Rosa Maria Roperto, Paola Romagnani, Michele Sacchini, Maria Alice Donati and Maurizio de Martino

    Citation: Italian Journal of Pediatrics 2018 44:90

    Content type: Case report

    Published on:

  41. Losing a child is devastating for parents and grandparents. Family and friends generally focus on comforting and supporting the bereaved parents, unintentionally ignoring the bereaved grandparents. Grandmother...

    Authors: JoAnne M. Youngblut and Dorothy Brooten

    Citation: Italian Journal of Pediatrics 2018 44:89

    Content type: Research

    Published on:

  42. 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

    Published on:

  43. Point-of-care ultrasonography (POCUS) allows to obtain real-time images to correlate with the patient’s presenting signs and symptoms. It can be used by various specialties and may be broadly divided into diag...

    Authors: Julien Le Coz, Silvia Orlandini, Luigi Titomanlio and Victoria Elisa Rinaldi

    Citation: Italian Journal of Pediatrics 2018 44:87

    Content type: Review

    Published on:

  44. 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

    Published on:

  45. Neonatal priapism is a rare condition with only 26 described cases in literature since 1879. It is defined as a persistent penile erection occurring in the first 28 days of life, lasting at least 4 h that usua...

    Authors: Claudia Fanni, Maria Antonietta Marcialis, Maria Cristina Pintus, Cristina Loddo and Vassilios Fanos

    Citation: Italian Journal of Pediatrics 2018 44:85

    Content type: Review

    Published on:

  46. Necrotizing enterocolitis continues to be a devastating disease process for very low birth weight infants in Neonatal Intensive Care Units. The aetiology and pathogenesis of necrotizing enterocolitis are not d...

    Authors: Gabriella D’Angelo, Pietro Impellizzeri, Lucia Marseglia, Angela Simona Montalto, Tiziana Russo, Ignazio Salamone, Raffaele Falsaperla, Giovanni Corsello, Carmelo Romeo and Eloisa Gitto

    Citation: Italian Journal of Pediatrics 2018 44:84

    Content type: Review

    Published on:

  47. Kikuchi-Fujimoto disease is a rare, idiopathic and generally self-limiting cause of lymphadenitis of unknow etiology with a low recurrence rate. The typical clinical signs are cervical lymphadenopathy, fever, ...

    Authors: Mara Lelii, Laura Senatore, Ilaria Amodeo, Raffaella Pinzani, Sara Torretta, Stefano Fiori, Paola Marchisio and Samantha Bosis

    Citation: Italian Journal of Pediatrics 2018 44:83

    Content type: Case report

    Published on:

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