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  1. We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenil...

    Authors: Srdjan Pasic, Maja Cupic, Tanja Jovanovic, Slobodanka Djukic, Maja Kavaric and Ivana Lazarevic
    Citation: Italian Journal of Pediatrics 2013 39:59
  2. There are few published data concerning radiological findings and their relationship with community-acquired pneumonia (CAP) severity. The aim if this study was to assess radiographic findings in children with...

    Authors: Maria Francesca Patria, Benedetta Longhi, Mara Lelii, Carlotta Galeone, Maria Angela Pavesi and Susanna Esposito
    Citation: Italian Journal of Pediatrics 2013 39:56
  3. Achieving a good health-related quality of life (HRQoL) is currently one of the main aims in long term survival of liver transplanted children (PLT). Purpose of our study is to compare HRQoL of PLT patients (N...

    Authors: Antonella Gritti, Simone Pisano, Tiziana Salvati, Nicolina Di Cosmo, Raffaele Iorio and Pietro Vajro
    Citation: Italian Journal of Pediatrics 2013 39:55
  4. Severe Combined Immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency (PID). Complications of BCG vaccination, especially disseminated infection and its most severe forms, are kno...

    Authors: Pérsio Roxo-Junior, Jorgete Silva, Mauro Andrea, Larissa Oliveira, Fernando Ramalho, Thiago Bezerra and Altacílio A Nunes
    Citation: Italian Journal of Pediatrics 2013 39:54
  5. Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of gl...

    Authors: Ferdinando Ceravolo, Italia Mascaro, Simona Sestito, Elisa Pascale, Antonino Lauricella, Elio Dizione and Daniela Concolino
    Citation: Italian Journal of Pediatrics 2013 39:53
  6. Dehydration caused by acute rotavirus gastroenteritis is a frequent finding in pediatric patients. The most important treatment modality in these patients is recognising and treating dehydration, electrolyte i...

    Authors: Tanju Çelik, Emel Altekin, Rana İşgüder, Yasin Kenesari, Murat Duman and Nur Arslan
    Citation: Italian Journal of Pediatrics 2013 39:52
  7. In the care of feverish children, symptomatic management is pivotal. Thus, the Italian Pediatric Society has recently published guidelines on fever management in children. Our aim was to investigate whether pe...

    Authors: Alberto Bettinelli, Maria Cristina Provero, Felice Cogliati, Anna Villella, Maddalena Marinoni, Francesco Saettini, Mario Giovanni Bianchetti, Luigi Nespoli, Cino Galluzzo and Sebastiano Antonio Giovanni Lava
    Citation: Italian Journal of Pediatrics 2013 39:51
  8. This review provides a synopsis for clinicians on the use of antiepileptic drugs (AEDs) in the breastfeeding mother.

    Authors: Riccardo Davanzo, Sara Dal Bo, Jenny Bua, Marco Copertino, Elisa Zanelli and Lorenza Matarazzo
    Citation: Italian Journal of Pediatrics 2013 39:50
  9. To evaluate the association between the genetic polymorphism of the solute carrier organic anion transporter family member 1B1 (SLCO1B1, also known as organic anion transport polypeptide C) and hyperbilirubine...

    Authors: Jiebo Liu, Jun Long, Shaofang Zhang, Xiaoyan Fang and Yuyuan Luo
    Citation: Italian Journal of Pediatrics 2013 39:49
  10. Skin prick tests are the first investigation in allergy diagnostics and their use is described in all the guidelines on atopic eczema. However, the clinical usefulness of skin prick tests is the subject of gre...

    Authors: Carlo Caffarelli, Arianna Dondi, Carlotta Povesi Dascola and Giampaolo Ricci
    Citation: Italian Journal of Pediatrics 2013 39:48
  11. The exact prevalence of food allergy in the general population is unknown, but almost 12% of pediatric population refers a suspicion of food allergy. IgE mediated reactions to food are actually the best-charac...

    Authors: Anna Maria Castellazzi, Chiara Valsecchi, Silvia Caimmi, Amelia Licari, Alessia Marseglia, Maria Chiara Leoni, Davide Caimmi, Michele Miraglia del Giudice, Salvatore Leonardi, Mario La Rosa and Gian Luigi Marseglia
    Citation: Italian Journal of Pediatrics 2013 39:47
  12. Transcutaneous bilirubinometry is widely used to predict hyperbilirubinemia by using several devices. The aim of this study was to compare the predictive ability of BiliCheck vs JM-103 in identifying neonates ...

    Authors: Costantino Romagnoli, Piero Catenazzi, Giovanni Barone, Lucia Giordano, Riccardo Riccardi, Antonio Alberto Zuppa and Enrico Zecca
    Citation: Italian Journal of Pediatrics 2013 39:46
  13. VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atres...

    Authors: Simona La Placa, Mario Giuffrè, Antonella Gangemi, Stefania Di Noto, Federico Matina, Federica Nociforo, Vincenzo Antona, Maria Rita Di Pace, Maria Piccione and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2013 39:45
  14. The role of breakfast as an essential part of an healthy diet has been only recently promoted even if breakfast practices were known since the Middle Age. The growing scientific evidences on this topic are ext...

    Authors: Antonio Affinita, Loredana Catalani, Giovanna Cecchetto, Gianfranco De Lorenzo, Dario Dilillo, Giorgio Donegani, Lucia Fransos, Fabio Lucidi, Chiara Mameli, Elisa Manna, Paolo Marconi, Giuseppe Mele, Laura Minestroni, Massimo Montanari, Mario Morcellini, Giuseppe Rovera…
    Citation: Italian Journal of Pediatrics 2013 39:44
  15. This study aims to investigate the incidence and the relative risk factors of retinopathy of prematurity (ROP) and posterior-ROP (P-ROP): ROP in Zone I and posterior Zone II, as well as to analyze the occurren...

    Authors: Cesarina Borroni, Carla Carlevaro, Sabrina Morzenti, Elena De Ponti, Valentina Bozzetti, Vito Console, Salvatore Capobianco and Paolo E Tagliabue
    Citation: Italian Journal of Pediatrics 2013 39:43
  16. Soluble-lymphocyte subsets (sCD19 + CD23+ B cells and sCD4 + CD25+ T cells), soluble-adhesion molecules (sE-selectin) and interleukin-12 (sIL-12) were assayed to evaluate the pathogenesis of steroid sensitive ...

    Authors: Bilal Yildiz, Nuran Cetin, Nurdan Kural and Omer Colak
    Citation: Italian Journal of Pediatrics 2013 39:42
  17. In order to help assess resident performance during training, the Residency Affair Committee of the Pediatric Residency Program of the University of Padua (Italy) administered a Resident Assessment Questionnai...

    Authors: Liviana Da Dalt, Pasquale Anselmi, Silvia Bressan, Silvia Carraro, Eugenio Baraldi, Egidio Robusto and Giorgio Perilongo
    Citation: Italian Journal of Pediatrics 2013 39:41
  18. Methadone is commonly prescribed as a substitute for illicit opioids. Use of methadone during pregnancy is associated with neonatal abstinence syndrome (NAS), reduced head circumference as well as a slight inc...

    Authors: Francesca Tinelli, Alessandra Gamucci, Roberta Battini and Giovanni Cioni
    Citation: Italian Journal of Pediatrics 2013 39:40
  19. Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritan...

    Authors: Carla Bizzarri, Danila Benevento, Cesare Terzi, Angela Huebner and Marco Cappa
    Citation: Italian Journal of Pediatrics 2013 39:39
  20. Male circumcision (MC) is one of the oldest and most common operations performed all over the world. It can be performed at different ages, using different surgical techniques, for different religious, cultura...

    Authors: Carlo V Bellieni, Maria G Alagna and Giuseppe Buonocore
    Citation: Italian Journal of Pediatrics 2013 39:38
  21. Sickle Cell Disease (SCD) is the most common genetic disease worldwide. Neurological events are among the most worrisome clinical complications of SCD and are frequently accompanied by cognitive impairment. In...

    Authors: Maria Montanaro, Raffaella Colombatti, Marisa Pugliese, Camilla Migliozzi, Fabiana Zani, Maria Elena Guerzoni, Sheila Manoli, Renzo Manara, Giorgio Meneghetti, Patrizia Rampazzo, Francesca Cavalleri, Marco Giordan, Paolo Paolucci, Giuseppe Basso, Giovanni Palazzi and Laura Sainati
    Citation: Italian Journal of Pediatrics 2013 39:36
  22. A deficiency in vitamin D (25OHD) is common throughout the world in both adults and children, being related to skin pigmentation, sun exposure, dietary intake and obesity. Limited data are available for the ne...

    Authors: Francesco Cadario, Silvia Savastio, Erica Pozzi, Antonella Capelli, Elena Dondi, Miriam Gatto, Mauro Zaffaroni and Gianni Bona
    Citation: Italian Journal of Pediatrics 2013 39:35
  23. The incidence of severe acute respiratory tract infections in children caused by Mycoplasma pneumoniae (syn. Schizoplasma pneumoniae) and Chlamydophila pneumoniae (formerly Chlamydia pneumoniae) varies greatly fr...

    Authors: Zhengrong Chen, Wei Ji, Yuqing Wang, Yongdong Yan, Hong Zhu, Xuejun Shao and Jun Xu
    Citation: Italian Journal of Pediatrics 2013 39:34
  24. 3-hydroxy-3-methylglutaric aciduria (OMIM 246450) is a rare autosomal recessive inborn of metabolism due to the deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase, an enzyme involved both in t...

    Authors: Francesca Santarelli, Michela Cassanello, Ausilia Enea, Francesca Poma, Valentina D'Onofrio, Giovanna Guala, Giangiacomo Garrone, Paola Puccinelli, Ubaldo Caruso, Francesco Porta and Marco Spada
    Citation: Italian Journal of Pediatrics 2013 39:33
  25. Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Da...

    Authors: Ettore Piro, Maria Piccione, Gianluca Marrone, Mario Giuffrè and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2013 39:32
  26. Food protein-induced enterocolitis syndrome (FPIES) is an uncommon and potentially severe non IgE-mediated gastrointestinal food allergy. It is usually caused by cow’s milk or soy proteins, but may also be tri...

    Authors: Lucia Caminiti, Giuseppina Salzano, Giuseppe Crisafulli, Federica Porcaro and Giovanni Battista Pajno
    Citation: Italian Journal of Pediatrics 2013 39:31
  27. Dysphagia is a known complication in Pompe Disease (PD), a severe metabolic myopathy due to alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) with alglucosidase alfa is the only approved therapy f...

    Authors: Simona Fecarotta, Serena Ascione, Giuseppe Montefusco, Roberto Della Casa, Paola Villari, Alfonso Romano, Ennio Del Giudice, Generoso Andria and Giancarlo Parenti
    Citation: Italian Journal of Pediatrics 2013 39:30
  28. Recurrent respiratory infections are one of the most important causes of morbidity in childhood. When immune functions are still largely immature, the airway epithelium plays a primary defensive role since, be...

    Authors: Sonia Carta, Michela Silvestri and Giovanni A Rossi
    Citation: Italian Journal of Pediatrics 2013 39:29
  29. Feeding small for gestational age (SGA) newborns is extremely challenging and the neonatologist should be brave and cautious at the same time. Although these babies have a high risk of milk intolerance and nec...

    Authors: Giovanni Barone, Luca Maggio, Annalisa Saracino, Alessandro Perri, Costantino Romagnoli and Enrico Zecca
    Citation: Italian Journal of Pediatrics 2013 39:28
  30. Antibiotic resistance is one of the most serious public health concerns worldwide and is increasing at an alarming rate, making daily treatment decisions more challenging. This study is aimed at identifying lo...

    Authors: Alexandra Christopher, Stephen E Mshana, Benson R Kidenya, Aldofineh Hokororo and Domenica Morona
    Citation: Italian Journal of Pediatrics 2013 39:27
  31. In this review, we summarize the progresses in allergy, endocrinology, gastroenterology, hematology, infectious diseases, neurology, nutrition and respiratory tract illnesses that have been published in The It...

    Authors: Carlo Caffarelli, Francesca Santamaria, Alessandra Vottero and Sergio Bernasconi
    Citation: Italian Journal of Pediatrics 2013 39:26
  32. The hemophilias are the most common X-linked inherited bleeding disorders. The challenges in children are different from that in adults and, If not properly managed, can lead to chronic disease and lifelong di...

    Authors: Paola Giordano, Massimo Franchini, Giuseppe Lassandro, Maria Felicia Faienza, Roberto Valente and Angelo Claudio Molinari
    Citation: Italian Journal of Pediatrics 2013 39:24
  33. Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationshi...

    Authors: Giuseppe Puccio, Mario Giuffré, Maria Piccione, Ettore Piro, Grazia Rinaudo and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2013 39:23
  34. The purpose of this study was to determine the incidence and seasonal distribution of viral etiological agents and to compare their clinical manifestations and disease severity, including single and co infecti...

    Authors: Suat Bicer, Tuba Giray, Defne Çöl, Gülay Çiler Erdağ, Ayça Vitrinel, Yesim Gürol, Gülden Çelik, Çigdem Kaspar and Öznur Küçük
    Citation: Italian Journal of Pediatrics 2013 39:22
  35. 3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrom...

    Authors: Cristina Meazza, Ekkehard Lausch, Sara Pagani, Elena Bozzola, Valeria Calcaterra, Andrea Superti-Furga, Margherita Silengo and Mauro Bozzola
    Citation: Italian Journal of Pediatrics 2013 39:21
  36. The European Society of Hypertension has recently published its recommendations on prevention, diagnosis and treatment of high blood pressure in children and adolescents. Taking this contribution as a starting...

    Authors: Amedeo Spagnolo, Marco Giussani, Amalia Maria Ambruzzi, Mario Bianchetti, Silvio Maringhini, Maria Chiara Matteucci, Ettore Menghetti, Patrizia Salice, Loredana Simionato, Mirella Strambi, Raffaele Virdis and Simonetta Genovesi
    Citation: Italian Journal of Pediatrics 2013 39:20
  37. Infant mortality is a key indicator of child and population health. The aim of this study is to analyse the trends in infant mortality rates (IMRs) and their components (neonatal mortality rates-NMRs and post-...

    Authors: Laura Dallolio, Jacopo Lenzi and Maria Pia Fantini
    Citation: Italian Journal of Pediatrics 2013 39:19
  38. Ocular allergy represents one of the most common conditions encountered by allergists and ophthalmologists. Allergic conjunctivitis is often underdiagnosed and consequently undertreated. Basic and clinical res...

    Authors: Mario La Rosa, Elena Lionetti, Michele Reibaldi, Andrea Russo, Antonio Longo, Salvatore Leonardi, Stefania Tomarchio, Teresio Avitabile and Alfredo Reibaldi
    Citation: Italian Journal of Pediatrics 2013 39:18
  39. There are several studies that have shown an increased risk of premature birth and developmental abnormalities with in vitro fertilization (IVF); however, the data on preterm mortality and morbidity are limited.

    Authors: Gülcan Turker, Emek Doger, Ayşe Engin Arısoy, Ayla Günlemez and Ayşe Sevim Gökalp
    Citation: Italian Journal of Pediatrics 2013 39:17
  40. Mean platelet volume (MPV) is a reflection of platelet size, which has been shown to correlate with platelet function and activation. The aim of this study was to evaluate whether MPV could be used for the dia...

    Authors: Eda Karadag-Oncel, Yasemin Ozsurekci, Ates Kara, Sevilay Karahan, Ali Bulent Cengiz and Mehmet Ceyhan
    Citation: Italian Journal of Pediatrics 2013 39:16
  41. The intestinal microbiota plays an important role in the development of post-natal gastrointestinal functions of the host. Recent advances in our capability to identify microbes and their function offer exciti...

    Authors: Antonio Di Mauro, Josef Neu, Giuseppe Riezzo, Francesco Raimondi, Domenico Martinelli, Ruggiero Francavilla and Flavia Indrio
    Citation: Italian Journal of Pediatrics 2013 39:15
  42. Anorexia nervosa commonly arises during adolescence and is associated with more than one medical morbidity. Abnormalities in brain structure (defined as “pseudoatrophy”) are common in adolescents with anorexia...

    Authors: Monica Bomba, Anna Riva, Federica Veggo, Marco Grimaldi, Sabrina Morzenti, Francesca Neri and Renata Nacinovich
    Citation: Italian Journal of Pediatrics 2013 39:14
  43. Cannabis dependence in adolescents predicts increased risks of using other illicit drugs, poor academic performance and reporting psychotic symptoms. The prevalence of cannabis use was estimated two decades ag...

    Authors: Seter Siziya, Adamson S Muula, Chola Besa, Olusegun Babaniyi, Peter Songolo, Njinga Kankiza and Emmanuel Rudatsikira
    Citation: Italian Journal of Pediatrics 2013 39:13
  44. Palamaro et al. describe a child with recurrent bronchopneumonia and very high IgE levels in which a variation, R156H, was found in the IL12RB1 gene that encodes the IL-12Rβ1 chain. Based on the absence of this v...

    Authors: Esther van de Vosse, Jaap T van Dissel, Loredana Palamaro, Giuliana Giardino, Francesca Santamaria, Rosa Romano, Anna Fusco, Silvia Montella, Mariacarolina Salerno, Matilde Valeria Ursini and Claudio Pignata
    Citation: Italian Journal of Pediatrics 2013 39:12
  45. Incomplete Kawasaki disease represents a diagnostic challenge for pediatricians. In the absence of classical presentation, the laboratoristic evaluation of systemic inflammation can help in placing the correct...

    Authors: Francesco Vierucci, Cristina Tuoni, Francesca Moscuzza, Giuseppe Saggese and Rita Consolini
    Citation: Italian Journal of Pediatrics 2013 39:11
  46. Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can...

    Authors: Pasquale Parisi, Severino Persechino, Maria Chiara Paolino, Francesco Nicita, Isabella Torrente, Alessandro Bozzao and Maria Pia Villa
    Citation: Italian Journal of Pediatrics 2013 39:10
  47. Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe...

    Authors: Francesca Santamaria, Sara De Stefano, Silvia Montella, Marco Maglione, Roberto Della Casa, Emma Acampora, Claudio Pignata, Mariacarolina Salerno and Giancarlo Parenti
    Citation: Italian Journal of Pediatrics 2013 39:9
  48. Aim of this survey is to report the most recent views about Hashimoto’s thyroiditis (HT) natural history according to the different presentations. In children presenting with either euthyroidism or subclinical...

    Authors: Filippo De Luca, Simona Santucci, Domenico Corica, Elda Pitrolo, Marika Romeo and Tommaso Aversa
    Citation: Italian Journal of Pediatrics 2013 39:8

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