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Italian Journal of Pediatrics

S Micheletti, F Palestra, P Martelli, P Accorsi, J Galli, L Giordano, V Trebeschi, E Fazzi
BACKGROUND: Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. METHOD: A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11...
October 21, 2016: Italian Journal of Pediatrics
Riccardo Lubrano, Giancarlo Tancredi, Raffaele Falsaperla, Marco Elli
Children with end-stage renal disease are known to have a cardiorespiratory fitness significantly reduced. This is considered to be an independent index predictive of mortality mainly due to cardiovascular accidents. The effects of renal transplantation on cardiorespiratory fitness are incompletely known. We compared the maximal oxygen uptake (VO2 max) of children with a functioning renal transplant with that of children with congenital solitary functioning kidney, taking into consideration also the amount of weekly sport activity...
October 6, 2016: Italian Journal of Pediatrics
Francesco Trotta, Roberto Da Cas, Antonino Bella, Carmela Santuccio, Stefania Salmaso
BACKGROUND: Study to investigate the intussusception incidence background in the pediatric population and its temporal trend in Italy. METHODS: A cross-sectional study was conducted on the pediatric population aged 0 to 15 years, in the period 1 January 2002 to 31 December 2012. Intussusception cases were identified using the national hospital discharge database. The annual intussusception incidence, the incidence rate ratios (IRRs) and the related 95 % confidence Intervals (CI) were calculated...
September 27, 2016: Italian Journal of Pediatrics
Stefano Stagi, Loredana Cavalli, Tiziana Cavalli, Maurizio de Martino, Maria Luisa Brandi
Peripheral quantitative computed tomography provides an automatical scan analysis of trabecular and cortical bone compartments, calculating not only their bone mineral density (BMD), but also bone geometrical parameters, such as marrow and cortical Cross-Sectional Area (CSA), Cortical Thickness (CoTh), both periosteal and endosteal circumference, as well as biomechanical parameters like Cross-Sectional Moment of Inertia (CSMI), a measure of bending, polar moment of inertia, indicating bone strength in torsion, and Strength Strain Index (SSI)...
September 26, 2016: Italian Journal of Pediatrics
Luca Castellazzi, Maria Francesca Patria, Gemma Frati, Andrea Alessandro Esposito, Susanna Esposito
BACKGROUND: Idiopathic pulmonary haemosiderosis (IPH) is a rare but potentially lethal condition in paediatric patients. This condition is considered an immune-mediated disorder, but its pathogenesis is still unknown. Idiopathic pulmonary haemosiderosis is characterized by the classical triad of haemoptysis, iron-deficiency anaemia, and diffuse parenchymal consolidation on chest radiology. Unfortunately, this triad of signs is not frequent in children at the onset of this disease, resulting in a delay in diagnosis and a negative outcome...
September 20, 2016: Italian Journal of Pediatrics
Silvia Caimmi, Amelia Licari, Davide Caimmi, Anna Rispoli, Eugenio Baraldi, Fiorella Calabrese, Gian Luigi Marseglia
BACKGROUND: Childhood interstitial lung disease (chILD) is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality. Neuroendocrine cell hyperplasia (NEHI) is a unique sub-group, which is more prevalent in infants and children younger than 2 years of age, and typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive. NEHI insidiously appears in the first year of life, subtly masquerading as one of the more common lung diseases of childhood...
September 15, 2016: Italian Journal of Pediatrics
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
Maria Francesca Patria, Benedetta Longhi, Mara Lelii, Claudia Tagliabue, Marinella Lavelli, Carlotta Galeone, Nicola Principi, Susanna Esposito
BACKGROUND: Recurrent pneumonia (RP) is one of the most frequent causes of pediatric non-cystic fibrosis (CF) bronchiectasis (BE) and a consequent accelerated decline in lung function. The aim of this study was to analyse the clinical records of children with RP in attempt to identify factors that may lead to an early suspicion of non-CF BE. METHODS: We recorded the demographic and clinical data, and lung function test results of children without CF attending our outpatient RP clinic between January 2009 to December 2013 who had undergone chest high-resolution computed tomography ≥ 8 weeks after an acute pneumonia episode and ≤ 6 months before enrolment...
February 9, 2016: Italian Journal of Pediatrics
M P De Carolis, G Pinna, C Cocca, S A Rubortone, C Romagnoli, I Bersani, S Salvi, A Lanzone, S De Carolis
BACKGROUND: Infants born at 34 to 36 weeks of gestation (late preterm) are at greater risk for adverse outcomes than those born at 37 weeks of gestation or later. Aim of this paper is to examine risk factors for late preterm births and to investigate the complications of the transition period in late preterm infants (LPIs). METHODS: All consecutive late preterm deliveries, excluded stillbirths, were included. Maternal and neonatal data, need for delivery room resuscitative procedures, temperature at birth (T1) and two hours after the admission (T2) were analyzed in all LPIs stratified by Gestational Age (GA) and divided into three groups (34, 35 and 36 weeks)...
2016: Italian Journal of Pediatrics
Seonkyeong Rhie, Kyu Young Chae, Heui Seung Jo, Kyu Hyung Lee
BACKGROUND: The aim of this study was to evaluate the results of sleep-wake cycle monitoring using amplitude-integrated EEG (aEEG) and neuroimaging in newborn infants with a possible perinatal hypoxic insult, investigate the correlation between the findings, and determine the relevance of the findings to reasonably predict neurological outcome. METHODS: aEEG was recorded among newborn infants suspected of perinatal asphyxia between November, 2014 and June, 2015 in one neonatal intensive care unit facility...
2016: Italian Journal of Pediatrics
Yunjia Tang, Wenhua Yan, Ling Sun, Jie Huang, Weiguo Qian, Miao Hou, Haitao Lv
BACKGROUND: Kawasaki disease (KD) is an illness of unknown etiology that mostly occurs in children under 5 years of age and is the leading cause of acquired heart disease all over the world. Mycoplasma pneumoniae (MP) was one of the likely causative agents of KD. However, the etiologic effect of MP in KD has not been fully recognized. METHODS: We prospectively analyzed the clinical records of 450 patients with KD hospitalized in Children's Hospital of Soochow University from 2012 to 2014...
2016: Italian Journal of Pediatrics
Manuela Marsili, Valentina Marzetti, Marta Lucantoni, Giuseppe Lapergola, Marco Gattorno, Francesco Chiarelli, Luciana Breda
BACKGROUND: Autoimmune sensorineural hearing loss, also known as autoimmune inner ear disease (AIED) is a rare clinical entity characterized by progressive and bilateral sensorineural hearing loss often accompanied by vestibular symptoms. Diagnosis is essential as a consistent number of patients show a positive response to steroids alone or in association with other immunosuppressive drugs. AIED is defined as primary when the disease is limited to the ear, whereas in up to a third of cases it is associated to other systemic autoimmune diseases such as Behçet disease (BD)...
2016: Italian Journal of Pediatrics
Paolo Indolfi, Serena Picazio, Silverio Perrotta, Francesca Rossi, Andrea Pession, Martina Di Martino, Elvira Pota, Daniela Di Pinto, Cristiana Indolfi, Roberto Rondelli, Francesco Vetrano, Fiorina Casale
BACKGROUND: Childhood cancer is relatively uncommon and the European age-standardized rate was 164 new case per million per year among children 0 to 14 years of age (95 % CI 158-170). Aims of our study are to evaluate the cases of these malignant diseases observed between 0 and 15 years of age in the Campania region between 1990 and 2014, the ration between observed and expected cases by disease and province of residence. Also we studied the percentage of extra-regional migration over the time by disease and province of residence...
2016: Italian Journal of Pediatrics
Tamader Y Al-Rammah
BACKGROUND: The radiation dose delivered from computed tomography (CT) scanning and the risks associated with ionising radiation are major concerns in paediatric imaging. Compared to adults, children have increased organ sensitivity and a longer expected lifetime in which cancer may develop. Therefore, it is important to investigate the awareness of paediatricians (referring physicians) regarding radiation doses and the associated risks. METHODS: A multiple-choice survey was distributed among paediatricians in 8 hospitals in Riyadh, the capital of Saudi Arabia...
2016: Italian Journal of Pediatrics
Raffaele Falsaperla, Andrea D Praticò, Martino Ruggieri, Enrico Parano, Renata Rizzo, Giovanni Corsello, Giovanna Vitaliti, Piero Pavone
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis...
2016: Italian Journal of Pediatrics
Dongling Dai, Feiqiu Wen, Sixi Liu, Shaoming Zhou
BACKGROUND: Both haemophagocytic lymphohistiocytosis and acute necrotizing encephalopathy are life-threatening condition. It presents major diagnostic difficulties, since it may have a diversity in clinical picture and with many conditions leading to the same clinical presentation. So it is key important to understand the disorders. CASE PRESENTATION: We report a pediatric case of haemophagocytic lymphohistiocytosis with specific presentation which predominantly featured as acute necrotizing encephalopathy of childhood...
2016: Italian Journal of Pediatrics
G Silibello, P Vizziello, M Gallucci, A Selicorni, D Milani, P F Ajmone, C Rigamonti, S De Stefano, M F Bedeschi, Faustina Lalatta
BACKGROUND: Living with a disabled child has profound effects on the entire family. With a prevalence of developmental disabilities around 2,5 %, there is a considerable need to promote improvements in the health care system. Little is known about changes and adaptations in the lives of affected families and this paucity of information hinders the improvement of services. This study sought to explore the needs and changes in the everyday life of families with children suffering from rare diseases of varying severity, with and without mental disability...
2016: Italian Journal of Pediatrics
Wei-Ya Wu, Chi-Rong Li, Ching-Pyng Kuo, Yi-Chen Chiang, Meng-Chih Lee
BACKGROUND: Adolescent pregnancy carries a higher risk of adverse birth outcomes. Currently, there are very few longitudinal studies that have investigated the growth of children born to adolescents. This study explores the birth outcomes and determinants in adolescent pregnancies with subjects enrolled from the Taiwan Birth Cohort Study (TBCS). METHODS: Using the data of Wave I (6 months old), II (18 months old), and III (36 months old) of TBCS, a national sample of 19,381 pairs of mothers and their children were included for analysis...
2016: Italian Journal of Pediatrics
Vincenzo Zanardo, Alessandro Mazza, Matteo Parotto, Giovanni Scambia, Gianluca Straface
BACKGROUND: Despite the current obesity epidemic, maternal underweight remains a common occurrence with potential adverse perinatal outcomes. METHODS: We aimed to investigate the relationship between weight gain during pregnancy, and fetal growth in underweight women with low and late fertility. Women body mass index (BMI), defined according to the World Health Organization's definition, gestational weight gain (GWG), defined by the Institute of Medicine and National Research Council and neonatal birth weight were prospectively collected at maternity ward of Policlinico Abano Terme (Italy) in 793 consecutive at term, uncomplicated deliveries...
2016: Italian Journal of Pediatrics
Carla Bizzarri, Nicole Olivini, Stefania Pedicelli, Romana Marini, Germana Giannone, Paola Cambiaso, Marco Cappa
BACKGROUND: Salt-wasting represents a relatively common cause of emergency admission in infants and may result in life-threatening complications. Neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron leading to reduced ability to concentrate urine. METHODS: A retrospective chart review was conducted for infants hospitalized in a single Institution from 1(st) January 2006 to 31(st) December 2015. The selection criterion was represented by the referral to the Endocrinology Unit for hyponatremia (serum sodium <130 mEq/L) of suspected endocrine origin at admission...
2016: Italian Journal of Pediatrics
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