Italian Journal of Pediatrics

http://www.ijponline.net/

List of Papers (Total 924)

Congenital myopathies: clinical phenotypes and new diagnostic tools

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the ...

Clinical spectrum of woolly hair: indications for cerebral involvement

Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications. On the contrary, the generalized type may be related to disorders and ...

Neuropsychological and internalizing problems in acute central nervous system infections: a 1 year follow-up

Acute central nervous system (ACNS) infections such as meningitis, encephalitis and cerebellitis still cause morbidity and mortality among children. The aim of this study was to verify whether neuropsychological impairment may develop in ACNS survivors. The study included pediatric patients affected by ACNS disorders, aged 3-16 years admitted to the Bambino Gesù Children Hospital, ...

How should we give vitamin D supplementation? evaluation of the pediatricians’ knowledge in Turkey

We aimed to determine the knowledge and attitudes of Turkish pediatricians concerning vitamin D supplement. The study was planned cross-sectional to be carried out between April–May 2015 in Turkey. A questionnaire form that determined the participants’ opinions and practices concerning vitamin D supplement was completed via face-to-face interview. A total of 107 pediatricians ...

Efficacy and usability of a novel nebulizer targeting both upper and lower airways

Upper and lower airways diseases share in part their pathogenic mechanisms and frequently occur simultaneously as “United Airway Disease.” Local treatment with nebulizers delivers anti-symptomatic drugs in either the upper or the lower airways, according to the particle size generated by the nebulizer. To our knowledge, no nebulizer combines both application ways. The aim of this ...

NBAS mutations cause acute liver failure: when acetaminophen is not a culprit

Pediatric acute-liver-failure due to acetaminophen (APAP) administration at therapeutic dosage is rare, while viral infections and metabolic defects are the prevalent causes. Yet, as acetaminophen is routinely used in febrile illnesses, it may be mistakenly held responsible for the acute liver damage. An 11 month old boy had been on acetaminophen for 10 days (total dose 720 mg = 72 ...

Long-term treatment with low-dose medicine in chronic childhood eczema: a double-blind two-stage randomized control trial

The efficacy of low-dose medicine (LDM) in childhood mild/moderate eczema is not known. We conducted a double-blind, two-stage, randomized, placebo-controlled clinical trial, lasting 23 months, to address this issue. Eighty children with chronic mild/moderate eczema were randomly allocated to Group A (placebo) or Group B (treatment group; Galium-Heel®, a low-dose multicomponent ...

Respiratory problems in children with esophageal atresia and tracheoesophageal fistula

Children with congenital esophageal atresia (EA) and tracheoesophageal fistula (TEF) have chronic respiratory symptoms including recurrent pneumonia, wheezing and persistent cough. The aim of this study is to describe the clinical findings of a large group of children with EA and TEF surgically corrected and the instrumental investigation to which they have undergone in order to ...

Humanization of pediatric care in the world: focus and review of existing models and measurement tools

The term “humanization” indicates the process by which people try to make something more human and civilized, more in line with what is believed to be the human nature. The humanization of care is an important and not yet a well-defined issue which includes a wide range of aspects related to the approach to the patient and care modalities. In pediatrics, the humanization concept is ...

Validation of the Italian version of the Non-Communicating Children's Pain Checklist-Postoperative Version

This study evaluated the validity and reliability of the Italian version of the Non-Communicating Children’s Pain Checklist-Postoperative version (I-NCCPC-PV). The original NCCPC-PV version was translated into Italian following the guidelines for “the translation, adaptation, and validation of instruments or scales for cross-cultural healthcare research”. We tested the Italian ...

Rapid containment of nosocomial transmission of a rare community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) clone, responsible for the Staphylococcal Scalded Skin Syndrome (SSSS)

Background The aims of this study were to identify the source and the transmission pathway for a Staphylococcal Scalded Skin Syndrome (SSSS) outbreak in a maternity setting in Italy over 2 months, during 2014; to implement appropriate control measures in order to prevent the epidemic spread within the maternity ward; and to identify the Methicillin-Resistant Staphylococcus aureus ...

Computed tomography-guided biopsies in children: accuracy, efficiency and dose usage

Background Computed-tomography-guided interventions are attractive for tissue sampling of paediatric tumor lesions; however, it comes with exposure to ionizing radiation. The aim of this study was to analyse the radiation dose, accuracy and speed of CT-guided interventions in paediatric patient cohort. Methods We retrospectively reviewed CT-guided interventions over a 10 -year ...

Metabolic progression to clinical phenotype in classic Fabry disease

Background Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, ...

Percentiles of serum uric acid and cardiometabolic abnormalities in obese Italian children and adolescents

Background To investigate the association of serum uric acid (SUA) with cardiometabolic abnormalities in Caucasian overweight/obese children (<10 years of age) versus adolescents (≥10 years of age) by drawing age and gender specific percentiles of uric acid. Methods Cross-sectional evaluation of 1364 Caucasian overweight/obese patients (age 4.1–17.9 years; 726 males, 53%; 560 ...

Analysis of the factors affecting the evolution over time of subclinical hypothyroidism in children

Aim of this commentary is to report the most recent views about natural history of subclinical hypothyroidism (SH) according to the different etiologies. In children with idiopathic SH the natural evolution is often favourable, with a high percentage of cases reverting to euthyroidism or remaining SH even after a prolonged follow-up. By contrast, the risk of a significant ...

Vitamin D deficiency and its impact on asthma severity in asthmatic children

Background Despite obtaining evidences on association between vitamin D and development of lung in fetus, little is known about vitamin D level and its impact on severity of asthma in children. The present study aimed to assess the relationship between the asthma severity and vitamin D deficiency in asthmatic children. Methods This case-control study was conducted on 106 ...

No effect of yeast-like fungi on lipid metabolism and vascular endothelial growth factor level in children and adolescents with type 1 diabetes mellitus

Background The objective of the research was to investigate vascular endothelial growth factor (VEGF) levels in the context of lipid metabolism and amount of yeast-like fungi colonizing the digestive tract in children and adolescents with type 1 diabetes mellitus (T1DM). Methods The study included 45 children with T1DM and 27 age- and sex-matched healthy control subjects. In the ...

Congenital cytomegalovirus related intestinal malrotation: a case report

Background Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection. Case presentation We report on a case of coexistent congenital Cytomegalovirus infection with ...

A randomized clinical trial comparing 3 different replacement regimens of vitamin D in clinically asymptomatic pediatrics and adolescents with vitamin D insufficiency

Background Pediatric and Adolescent populations both have special needs for vitamin D especially for growing bone. Inadequate vitamin D is defined as 25 (OH) D(25hydroxy vitamin D) < 30 ng/ml. Methods We conducted a randomized, controlled clinical trial from July 2014 over 1 year, aiming to assess the changes in 25 (OH) D and biochemical outcome on calcium and PTH(parathyroid ...

Neonatal diffusion tensor brain imaging predicts later motor outcome in preterm neonates with white matter abnormalities

Background White matter (WM) abnormalities associated with prematurity are one of the most important causes of neurological disability that involves spastic motor deficits in preterm newborns. This study aimed to evaluate regional microstructural changes in diffusion tensor imaging (DTI) associated with WM abnormalities. Methods We prospectively studied extremely low birth weight ...

Physiopathology of vesico-ureteral reflux

Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VUJ) level. It seems that the main cause could be an abnormal embryological development occurred during the early stage of fetal life. Refluxing ureteral endings show structural and functional anomalies: previous studies have shown a significant ...

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

Background Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright’s Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical ...

Association of DARS gene polymorphisms with the risk of isolated ventricular septal defects in the Chinese Han population

Background Ventricular septal defects (VSD) are the most common subtype of congenital heart defects (CHD) and are estimated to account for 20 to 30% of all cases of CHD. The etiology of isolated VSD remains poorly understood. Eight core aminoacyl-tRNA synthetases (ARSs) (EPRS, MARS, QARS, RARS, IARS, LARS, KARS, and DARS) combine with three nonenzymatic components to form a complex ...

Performances of low level hospital health caregivers after a neonatal resuscitation course

Background High fidelity simulation has been executed to allow the evaluation of technical and non-technical skills of health caregivers. Our objective was to assess technical and non-technical performances of low level hospitals health caregivers who attended a Neonatal Resuscitation course using high fidelity simulation in a standard-setting scenario. Methods Twenty-three ...

Fatal varicella pneumonia in an unvaccinated child with Down Syndrome: a case report

Background Varicella is an acute infectious disease common during childhood. It has mostly an uncomplicated course in early childhood. Neverthless, it may result in severe complications, especially in particular age groups and clinical conditions. Down Syndrome represents a risk factor for developing complications, because of the frequent comorbidities and their immunodeficiency. ...