Articles

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways....

Authors: Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia and Andrea Bartuli

Short stature: an ordinary sign for an unordinary diagnosis

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

Rubella sero-prevalence among children in Kilimanjaro region: a community based study prior to the introduction of rubella vaccine in Tanzania

Childhood rubella infection is a mild, self-limiting illness. Rubella infection among pregnant women however, is a major public health concern. Depending on gestation age, it may result in fetal death, stillbi...

Authors: Nikolas A. S. Chotta, Melina Mgongo, Jacqueline G. Uriyo, Sia E. Msuya, Babill Stray-Pedersen and Arne Stray-Pedersen

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, cranio...

Authors: Martina Busè, Helenia C. Cuttaia, Daniela Palazzo, Marcella V. Mazara, Salvatrice A. Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani and Maria Piccione

Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)

A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of ...

Authors: H. Rahmoune, N. Boutrid, M. Amrane, M. C. Chekkour and B. Bioud

Omitting duodenal biopsy in children with suspected celiac disease and extra-intestinal symptoms

The aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is possible to omit performing an intestinal biopsy for...

Authors: Mauro Bozzola, Cristina Meazza, Chiara Gertosio, Sara Pagani, Daniela Larizza, Valeria Calcaterra, Ombretta Luinetti, Giovanni Farello, Carmine Tinelli and Lorenzo Iughetti

Effects of inhaled hypertonic (7%) saline on lung function test in preschool children with cystic fibrosis: results of a crossover, randomized clinical trial

This crossover, randomized, double-blind study (conducted over a 32-week period) was performed to determine, in clinically stable Cystic fibrosis (CF) preschool children: the effects of 7% inhaled hypertonic s...

Authors: Raffaella Nenna, Fabio Midulla, Caterina Lambiase, Giovanna De Castro, Anna Maria Zicari, Luciana Indinnimeo, Giuseppe Cimino, Patrizia Troiani, Serena Quattrucci and Giancarlo Tancredi

IOEASMA: an integrated clinical and educational pathway for managing asthma in children and adolescents

Due to the lack of real life clinical and educational studies, “Io e l’Asma” Centre performed this implementation research (IR).

Authors: Sebastiano Guarnaccia, Gaia Pecorelli, Marina Bianchi, Massimo Cartabia, Gianluigi Casadei, Ada Pluda, Cristina Quecchia, Valeria Gretter and Maurizio Bonati

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a def...

Authors: Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli and Marco Cappa

The autoimmune burden in juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory arthritis of unknown origin which can be considered an autoimmune disease (AD). The aim of this study is to analyse the presence of two or more aut...

Authors: Elena Tronconi, Angela Miniaci and Andrea Pession

Medication-related visits in a pediatric emergency department: an 8-years retrospective analysis

There are limited data on the characterization of medication-related visits (MRVs) to the emergency department (ED) in pediatric patients in Italy. We have estimated the frequency, severity, and classification...

Authors: Cristiano Rosafio, Serena Paioli, Cinzia Del Giovane, Valentina Cenciarelli, Nilla Viani, Paolo Bertolani and Lorenzo Iughetti

Acute cerebellitis in children: an eleven year retrospective multicentric study in Italy

Acute cerebellitis (AC) and acute cerebellar ataxia (ACA) are the principal causes of acute cerebellar dysfunction in childhood. Nevertheless. there is no accepted consensus regarding the best management of ch...

Authors: Laura Lancella, Susanna Esposito, Maria Luisa Galli, Elena Bozzola, Valeria Labalestra, Elena Boccuzzi, Andrzej Krzysztofiak, Laura Cursi, Guido Castelli Gattinara, Nadia Mirante, Danilo Buonsenso, Claudia Tagliabue, Luca Castellazzi, Carlotta Montagnani, Chiara Tersigni, Piero Valentini…

Waist-to-height ratio and its associations with body mass index in a sample of Tuscan children in primary school

Visceral obesity in children increases the risk of developing cardiovascular diseases. To evaluate overweight children, in addition to Body Mass Index (BMI), waist-to-height ratio (WHtR) can be used to predict...

Authors: Francesca Santomauro, Chiara Lorini, Francesca Pieralli, Giuditta Niccolai, Paola Picciolli, Stefania Vezzosi and Guglielmo Bonaccorsi

A cohort analysis of neonatal hospital mortality rate and predictors of neonatal mortality in a sub-urban hospital of Cameroon

In Cameroon, sustainable effort needs to be done to reduce the current neonatal mortality rate from 21 deaths per 1000 live births to the global target of fewer than ten deaths per 1000 live births by 2035. We...

Authors: Paul Koki Ndombo, Quinta Mua Ekei, Joel Noutakdie Tochie, Mazou Ngou Temgoua, Francky Teddy Endomba Angong, Ferdinand Ndom Ntock and Lawrence Mbuagbaw

Current role of perampanel in pediatric epilepsy

Perampanel is among the latest AEDs approved, indicated for the treatment of partial-onset seizures with or without secondary generalization, and for primary generalized tonic-clonic seizures, in patients aged...

Authors: Paola De Liso, Romina Moavero, Giangennaro Coppola, Paolo Curatolo, Raffaella Cusmai, Giovambattista De Sarro, Emilio Franzoni, Federico Vigevano and Alberto Verrotti

Oral mucosal lesions in teenagers: a cross-sectional study

Adolescence is a period of transition to adulthood. Little is known about oral mucosal lesions (OMLs) in teenagers, in which the emergence of new habits, unfamiliar to children, could affect the type of lesions.

Authors: Francesca Amadori, Elena Bardellini, Giulio Conti and Alessandra Majorana

Varicella associated pneumoniae in a pediatric population

Varicella pneumonia has been studied extensively in adults; it may also affect children and may require hospitalization.

Authors: Elena Bozzola, Guido Castelli Gattinara, Mauro Bozzola, Nadia Mirante, Marco Masci, Chiara Rossetti, Andrzej Krzystofiak, Luciana Nicolosi, Renato Cutrera, Laura Lancella, Alberto Eugenio Tozzi and Alberto Villani

Children with cancer: a survey on the experience of Italian primary care pediatricians

Cancer is the second cause of death in children and its diagnosis can be difficult, due to the presence of vague and non-specific symptoms. The primary care pediatrician is often involved in the diagnostic pro...

Authors: Marta Minute, Giorgio Cozzi, Chiara Plotti, Giuseppe Montanari, Paolo Pecile, Giulio Andrea Zanazzo, Alessandro Ventura and Egidio Barbi

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

Recently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinata...

Authors: Xiao-Hui Zhang, Li-Qian Qiu, Ying-Hui Ye and Jian Xu

ANCA-associated vasculitis in childhood: recent advances

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are rare systemic diseases that usually occur in adulthood. They comprise granulomatosis with polyangiitis (GPA, Wegener’s), microscopic poly...

Authors: Marta Calatroni, Elena Oliva, Davide Gianfreda, Gina Gregorini, Marco Allinovi, Giuseppe A. Ramirez, Enrica P. Bozzolo, Sara Monti, Claudia Bracaglia, Giulia Marucci, Monica Bodria, Renato A. Sinico, Federico Pieruzzi, Gabriella Moroni, Serena Pastore, Giacomo Emmi…

SHORT syndrome in a two-year-old girl – case report

SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.

Authors: Maria Klatka, Izabela Rysz, Katarzyna Kozyra, Agnieszka Polak and Witold Kołłątaj

Efficacy and safety of early supplementation with 800 IU of vitamin D in very preterm infants followed by underlying levels of vitamin D at birth

To determine the efficacy and safety of early supplementation with 800 IU of vitamin D in very low birth weight (VLBW) infants.

Authors: Sang Yeun Cho, Hyun-Kyung Park and Hyun Ju Lee

Evolution of blood pressure in children with congenital and acquired solitary functioning kidney

It is not yet clear if blood pressure and renal function changes evolve differently in children with a congenital or acquired solitary functioning kidney. This study aims to assess if there are any differences...

Authors: Riccardo Lubrano, Isotta Gentile, Raffaele Falsaperla, Giovanna Vitaliti, Alessia Marcellino and Marco Elli

The Italian Society for Pediatric Nephrology (SINePe) consensus document on the management of nephrotic syndrome in children: Part I - Diagnosis and treatment of the first episode and the first relapse

This consensus document is aimed at providing an updated, multidisciplinary overview on the diagnosis and treatment of pediatric nephrotic syndrome (NS) at first presentation. It is the first consensus documen...

Authors: Andrea Pasini, Elisa Benetti, Giovanni Conti, Luciana Ghio, Marta Lepore, Laura Massella, Daniela Molino, Licia Peruzzi, Francesco Emma, Carmelo Fede, Antonella Trivelli, Silvio Maringhini, Marco Materassi, Giovanni Messina, Giovanni Montini, Luisa Murer…

The utility of the basophil activation test in the diagnosis of immediate amoxicillin or amoxicillin-clavulanate hypersensitivity in children and adults

The basophil activation test (BAT), has been proposed as a possible assay for the diagnosis of immediate-type allergy to beta-lactams (BLs).

Authors: Simona Barni, Francesca Mori, Claudia Valleriani, Giusi Mangone, Sergio Testi, Francesca Saretta, Lucrezia Sarti, Neri Pucci, Maurizio de Martino, Chiara Azzari and Elio Novembre

Fragile X syndrome: a review of clinical and molecular diagnoses

Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000–7000 men and 1:4000–6000 women. It...

Authors: Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo and Susanna Esposito

Safety and effectiveness of oral propranolol for infantile hemangiomas started before 5 weeks and after 5 months of age: an Italian multicenter experience

Despite not being licensed for the treatment of infantile hemangiomas (IH) in infants younger than 5 weeks or older than 5 months, propranolol is often used in these age groups to prevent or to treat potential...

Authors: Maya El Hachem, Francesco Gesualdo, Andrea Diociaiuti, Irene Berti, Nadia Vercellino, Valeria Boccaletti, Iria Neri, Giulio Porcedda, Antonella Greco, Claudia Carnevale, Teresa Oranges, Mario Cutrone and Pietro Dalmonte

Congenital Cytomegalovirus infection: advances and challenges in diagnosis, prevention and treatment

Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developed countries of 0.6–0.7% of all live births. The burden of disease related to congenita...

Authors: Concetta Marsico and David W. Kimberlin

Supporting parents in taking care of their infants admitted to a neonatal intensive care unit: a prospective cohort pilot study

Family-Centred Care (FCC) is recognized as an important component of all paediatric care, including neonatal care, although practical clinical guidelines to support this care model are still needed in Italy. T...

Authors: Giuseppe De Bernardo, Maria Svelto, Maurizio Giordano, Desiree Sordino and Marina Riccitelli

Pattern of drug use among preterm neonates: results from an Italian neonatal intensive care unit

Drug use in preterm neonates admitted to Neonatal Intensive Care Unit (NICU) has been investigated, so far, in terms of unauthorized or off-label use; very little is known on the use of combinations of differe...

Authors: A. Girardi, S. Galletti, E. Raschi, A. Koci, E. Poluzzi, G. Faldella and F. De Ponti

Unexpected episodes of cyanosis in late preterm and term neonates prompted admission to a neonatal care unit

We studied late preterm and term infants who were admitted to our neonatal care unit in a tertiary hospital for unexpected episodes of cyanosis that occurred during rooming-in for evaluation of their frequency...

Authors: Carlo Dani, Livia Drovandi, Giovanna Bertini, Chiara Poggi and Simone Pratesi

Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a pilot study

Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are increasingly compared. There are no chest magnetic resonance imaging (MRI) comparative studies of PCD and CF. We assessed clinical, functional, mic...

Authors: Marco Maglione, Silvia Montella, Carmine Mollica, Vincenzo Carnovale, Paola Iacotucci, Fabiola De Gregorio, Antonella Tosco, Mariarosaria Cervasio, Valeria Raia and Francesca Santamaria

Intestinal and neurological involvement in Behcet disease: a clinical case

Behcet’s disease (BD) is a chronic immune-mediated, inflammatory disorder which may affect a number of different systems (oral and genital mucosa, eyes, skin, vascular district, joints, gastrointestinal tract ...

Authors: Romina Gallizzi, Dominique De Vivo, Simona Valenti, Caterina Pidone, Carmelo Romeo, Rosario Caruso and Claudio Romano

Denosumab treatment for progressive skull base giant cell tumor of bone in a 14 year old female – a case report and literature review

Giant cell tumor of bone (GCT) is a rare primary bone tumor, which can metastasize and undergo malignant transformation. The standard treatment of GCT is surgery. In patients with unresectable or metastatic di...

Authors: Samvel Bardakhchyan, Leo Kager, Samvel Danielyan, Armen Avagyan, Nerses Karamyan, Hovhannes Vardevanyan, Sergey Mkhitaryan, Ruzanna Papyan, Davit Zohrabyan, Liana Safaryan, Lilit Sargsyan, Lilit Harutyunyan, Lusine Hakobyan, Samvel Iskanyan and Gevorg Tamamyan

Management of acute respiratory diseases in the pediatric population: the role of oral corticosteroids

Respiratory diseases account for about 25% of all pediatric consultations, and 10% of these are for asthma. The other main pediatric respiratory diseases, in terms of incidence, are bronchiolitis, acute bronch...

Authors: Renato Cutrera, Eugenio Baraldi, Luciana Indinnimeo, Michele Miraglia Del Giudice, Giorgio Piacentini, Francesco Scaglione, Nicola Ullmann, Laura Moschino, Francesca Galdo and Marzia Duse

Comparison of two European paediatric emergency departments: does primary care organisation influence emergency attendance?

To compare paediatric Emergency Department (ED) attendances and admission outcomes in two European hospitals with different paediatric primary care set-up.

Authors: F. Poropat, P. Heinz, E. Barbi and A. Ventura

Difficult diagnosis of atypical kawasaki disease in an infant younger than six months: a case report

Kawasaki disease (KD) is an acute inflammatory vasculitis of unknown origin.

Authors: L. Petrarca, R. Nenna, P. Versacci, A. Frassanito, G. Cangiano, A. Nicolai, F. Scalercio, L. Lo Russo, P. Papoff, C. Moretti and F. Midulla

Sedation and analgesia practices at Italian neonatal intensive care units: results from the EUROPAIN study

We aimed to examine current bedside analgesia/sedation (A/S) and pain assessment (PA) practices in Italian neonatal intensive care units (NICUs) in relation to the findings of an epidemiological European study...

Authors: Paola Lago, Anna Chiara Frigo, Eugenio Baraldi, Roberta Pozzato, Emilie Courtois, Jérôme Rambaud, Kanwaljeet J. S. Anand and Ricardo Carbajal

Aerobic capacity and future cardiovascular risk in Indian community from a low-income area in Cauca, Colombia

Several studies indicates that children’s aerobic capacity levels are predictors of the future risk of non-communicable diseases. Therefore, the aim of this study was to establish the proportion of subjects wh...

Authors: Robinson Ramírez-Vélez, Jorge Enrique Correa-Bautista, Jeison Alexander Ramos-Sepúlveda, Carlos Andrés Piñeros-Álvarez, Lorena Isabel Giraldo, Mikel Izquierdo, Antonio García-Hermoso, Fernando Rodríguez-Rodríguez and Carlos Cristi-Montero

Efficacy of a mixture of probiotic agents as complementary therapy for chronic functional constipation in childhood

About 30% of constipated children continue to struggle with constipation beyond puberty. Growing interest has recently raised on the use of probiotics as complementary therapy for FC, in order to prevent the p...

Authors: Marina Russo, Francesca Paola Giugliano, Paolo Quitadamo, Valeria Mancusi, Erasmo Miele and Annamaria Staiano

Bifidobacterium mixture (B longum BB536, B infantis M-63, B breve M-16V) treatment in children with seasonal allergic rhinitis and intermittent asthma

Allergic rhinitis (AR) and allergic asthma are caused by an IgE-mediated inflammatory reaction. Probiotics may exert anti-inflammatory and immune-modulatory activity. Thus, this study aimed at investigating wh...

Authors: Michele Miraglia Del Giudice, Cristiana Indolfi, Michele Capasso, Nunzia Maiello, Fabio Decimo and Giorgio Ciprandi

The link between obesity and migraine in childhood: a systematic review

Obesity and headache are two highly prevalent diseases both in adults and children and they are associated with a strong personal and social impact. Many studies suggest that obesity is comorbid with headache ...

Authors: G. Farello, P. Ferrara, A. Antenucci, C. Basti and A. Verrotti

Clinical and epidemiological profiles including meteorological factors of low respiratory tract infection due to human rhinovirus in hospitalized children

Lower respiratory tract infection (LRTI) is a major cause of morbidity and mortality in children. Human rhinovirus (HRV) is confirmed to be associated with pediatric lower respiratory tract infection. Seasonal...

Authors: Yongdong Yan, Li Huang, Meijuan Wang, Yuqing Wang, Wei Ji, Canhong Zhu and Zhengrong Chen

Topical corticosteroid phobia in parents of pediatric patients with atopic dermatitis: a multicentre survey

Families of children affected with atopic dermatitis (AD) often report fear and anxiety regarding treatment with topical corticosteroids (TCS), which may lead to reduced compliance. The objective of our study ...

Authors: Maya El Hachem, Francesco Gesualdo, Giampaolo Ricci, Andrea Diociaiuti, Loredana Giraldi, Orsola Ametrano, Corrado Occella, Anna Belloni Fortina, Mirella Milioto, Fabio Arcangeli, Oriana Simonetti, Simona Giancristoforo, Elisabetta Calamelli, Carlo Mazzatenta and Iria Neri

72nd Congress of the Italian Society of Pediatrics

Authors: Marco Braghero, Annamaria Staiano, Eleonora Biasin, Patrizia Matarazzo, Silvia Einaudi, Rosaria Manicone, Francesco Felicetti, Enrico Brignardello, Franca Fagioli, Elisabetta Bignamini, Elena Nave, F. Callea, C. Concato, E. Fiscarelli, S. Garrone, M.Rossi de Gasperis…

Childhood obesity classification systems and cardiometabolic risk factors: a comparison of the Italian, World Health Organization and International Obesity Task Force references

Body Mass Index Italian reference data are available for clinical and/or epidemiological use, but no study compared the ability of this system to classify overweight and obesity and detect subjects with cluste...

Authors: Giuliana Valerio, Antonio Balsamo, Marco Giorgio Baroni, Claudia Brufani, Claudia Forziato, Graziano Grugni, Maria Rosaria Licenziati, Claudio Maffeis, Emanuele Miraglia Del Giudice, Anita Morandi, Lucia Pacifico, Alessandro Sartorio and Melania Manco

Commentary: which child obesity definitions predict health risk?

This Commentary considers the different definitions of child overweight and obesity, and reflects on the findings of the paper by Valerio et al. in this issue of the journal.

Authors: T. Lobstein

Care coordination for children with special health care needs: a cohort study

Care coordination is widely recognized as a key element of care for patients with chronic and complex medical conditions and their families. In care for children with special health care needs the Family Pedia...

Authors: Elisa Zanello, Simona Calugi, Lee M. Sanders, Jacopo Lenzi, Giacomo Faldella, Paola Rucci and Maria Pia Fantini

Indications to respiratory syncytial virus immunoprophylaxis in the 29–32 wGA group: is there still room for debating?

Guidelines on immunoprophylaxis for prevention of RSV infection recommend it in preterm babies born before 29 wGA; in babies affected by bronchopulmonary dysplasia or congenital heart defects; and in post-hear...

Authors: Gianvincenzo Zuccotti and Valentina Fabiano

From “classic” child abuse and neglect to the new era of maltreatment

The evolution of the concept of child abuse leads to consider new types of maltreatment that in the future will certainly be taken into account with a new era of social pediatrics.

Authors: Pietro Ferrara and Sergio Bernasconi