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Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in the hyperhomocysteinemia, which is a risk factor related to the occurrence of congenital heart defect (CHD). However, the association between...
Adenotonsillectomy (ADT) is one of the most widely used procedures in the treatment of paediatric recurrent acute tonsillitis (RAT) and obstructive sleep apnoea syndrome (OSAS), both of which have significant ...
Cystic fibrosis (CF) affects the musculoskeletal system via a multifactorial pathway that includes vitamin D deficiency and involvement of respiratory muscles such as intercostals due to recurrent upper and lo...
Implementation of antimicrobial stewardship program is a pivotal practice element for healthcare institution. We developed a remote infectious disease consultancy program via telemedicine in a high-specialized...
Medications with methyl-prednisolone sodium succinate containing lactose, which potentially contains traces of cow’s milk proteins (CMP), could cause allergic reactions or compromise treatment of acute allergi...
The Letter to the Editor to this article has been published in Italian Journal of Pediatrics 2019 45:5
Propranolol has become the first-line treatment for complicated Infantile Hemangioma (IH), showing so far a good risk-benefit profile.
Measles virus, member of the genus Morbillivirus in the family Paramyxoviridae, is a highly contagious human pathogen. An effective live-attenuated vaccine is available and its use has the potential to eradica...
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, congenita...
The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in severa...
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. Isola...
There are no Italian data regarding the strategies for preventing neonatal group B streptococcal (GBS) infection. We conducted a national survey in order to explore obstetrical, neonatal and microbiological pr...
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% ...
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 neuropsychologic...
The Correction to this article has been published in Italian Journal of Pediatrics 2017 43:115
We aimed to determine the knowledge and attitudes of Turkish pediatricians concerning vitamin D supplement.
Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation...
The diagnosis of IgE-mediated cow’s milk allergy is often based on anamnesis, and on specific IgE (sIgE) levels and/or Skin Prick Tests (SPT), which have both a good sensitivity but a low specificity, often ca...
Nontuberculous mycobacteria (NTM) are pathogens that commonly affect the paediatric population and its most frequent manifestation is a cervicofacial lymphadenopathy. With the improvement of technologies, new ...
Diarrhea remains a leading killer of young children on the globe despite the availability of simple and effective solutions to prevent and control it. The disease is more prevalent among under – five children ...
The relationship between premature birth and early cognitive function as measured by eye-tracking data remains unexplored. The aim of this study was to determine the effect of prematurity on the development of...
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 eit...
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...
Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS).
High prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) has been reported in children with autism spectrum disorder (ASD). However, there is a limited number of studies about the association b...
Henoch-Schönlein syndrome is a systemic small-vessel leukocytoclastic vasculitis that usually present with cutaneous, gastrointestinal, articular and renal manifestations. Little is known on liver involvement ...
Conduct Disorder (CD) is a psychiatric diagnosis characterized by a repetitive and persistent pattern of behaviour in which the basic rights of others and major age-appropriate social norms or rules are violat...
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by impaired social communication and restricted and repetitive behaviours, as well as associated features including intell...
Newborn hearing screening has to be considered the first step of a program for the identification, diagnosis, treatment and habilitation/rehabilitation of children with hearing impairment.
Growth hormone deficiency (GHD) is a relatively uncommon and heterogeneous endocrine disorder presenting in childhood with short stature. However, during the neonatal period, the metabolic effects of GHD may t...
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several d...
Rapid development and global spread of multidrug resistant Klebsiella pneumonia (K. pneumoniae) as a major cause of nosocomial infections is really remarkable. The aim of this study was to explore risk factors fo...
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...
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 ...
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...
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 Mediterranean diet has been for a very long time the basis of food habits all over the countries of the Mediterranean basin, originally founded on rural models and low consumption of meat products and high...
Insufficient quantities, frequencies, and inadequate quality of complementary feedings have a negative effect on child health and growth, especially in the first two years of life. Therefore, the aim of this s...
Pediatricians play a crucial role in the identification and management of child abuse and neglect (CAN) but they often don’t have a formal specialized training.
Following the most recent modification by the American Academy of Pediatrics, based on American studies on RSV epidemiology, the Italian Drug Agency (AIFA) decided to limit the total financial coverage of the ...
The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the ma...
Although the autoimmune polyglandular syndrome type 3 (APS-3) is the commonest APS that may be encountered in pediatric age, last year literature includes only few studies aiming to specifically ascertain the ...
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after pare...
The recognition, follow-up, and early treatment of neonatal jaundice has become more difficult, since the earlier discharge of newborns from hospitals has become common practice. Since intrapartum hypoxic stre...
Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tal...
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....
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...
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...
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 ...
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...
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...
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...
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