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Prader-Willi syndrome (PWS) is a complex disorder caused by impaired paternally expressed genes on chromosome 15q11-q13. Variable findings have been reported about the phenotypic differences among PWS genetic ...
The bacterial load of the human lower respiratory tract is at least several times lower than that of the other parts of the body. This study aimed to identify the bacterial composition and colony structure of ...
E-cigarettes are devices which allow to aerosolize liquids containing nicotine or other substances. Ever since they were released on the market in 2006, the number of users have been constantly increasing, esp...
The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life ...
Preterm extremely low birth weight infants (ELBWi) are known to be at greater risk of developing neuropsychiatric diseases. Identifying early predictors of outcome is essential to refer patients for early inte...
Hypokalemic periodic paralysis is a rare neuromuscular genetic disorder due to defect of ion channels and subsequent function impairment. It belongs to a periodic paralyses group including hyperkalemic periodi...
It is now well established that atherosclerosis begins in childhood and evolves through adolescence and young adulthood, ultimately resulting in myocardial infarction and stroke in adults.
Despite simple and proven cost-effective measures were available to prevent birth asphyxia; studies suggested that there has been limited progress in preventing birth asphyxia even in healthy full-term neonate...
Studies published on gender-related differences in the gambling behavior of adolescents have focused mainly on psychological and social factors. The aim of this study was to develop separate risk factor models...
Autism spectrum disorder (ASD) is one of the serious developmental disorders that is usually diagnosed below the age of three years. Although the severity of the disease’s symptoms varies from patient to patie...
Cathelicidin/LL-37 plays a significant role in the human immune defense reaction. Preterm human immature organs being exposed to inflammation-induced injury was the critical denominator leading to the common p...
Available guidelines for asthma management represent an important and suitable tool to make the entire medical process evidence-based, effective, and safe for patients. Their purpose is to help doctors and pat...
The potential use of biomarkers in the diagnosis of fungal infections is a challenge. The aim of this study was to evaluate the role of a biomarker-guided antifungal stewardship program for hospitalized pediat...
Adolescence is characterized by emotional instability and risk-taking behaviours that can lead to, among other things, an increased risk of developing pathological video-gaming and gambling habits. The aim of ...
Myogenic Arthrogryposis Multiplex Congenita type 3 (AMC-3), is a rare congenital condition characterized by severe hypotonia, club feet, and multiple joint contractures often affecting both arms and legs which...
The assessment of body composition is central in diagnosis and treatment of paediatric obesity, but a criterion method is not feasible in clinical practice. Even the use of bioelectrical impedance analysis (BI...
Beta thalassemia major (β-TM) is a common cause of skeletal morbidity and is associated with increased bone fracture risk, particularly in inadequately transfused children. The aim of this study was to investi...
To investigate the coping strategies of a group of adolescents with somatic symptom disorder compared to non-somatic symptom disorder peers during the COVID-19 related lockdown.
Phototherapy (PT) is the most often utilized technique for treating and preventing severe hyperbilirubinemia in the term and preterm newborns. PT's proven benefit is that it decreases the requirement for excha...
Coronavirus disease 2019 (COVID-19) is a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Although many reports have detailed a range of neurological symptoms in SARS-C...
Multiple gestations represent a considerable proportion of pregnancies delivering in the late preterm (LP) period. Only 30% of LP twins are due to spontaneous preterm labor and 70% are medically indicated; amo...
In our third-level Neonatal Unit in Northern Italy, we recorded a high rate of neonatal hyperbilirubinemia requiring phototherapy in March-November 2020, during the first phase of COVID-19 pandemic, compared t...
Brain abscesses are uncommon but life-threatening in extremely preterm (EP, Gestational Age < 28 weeks) infants. The information of long-time follow-up is rare, but very few cases presented almost intact neura...
Breastfeeding might prevent childhood cancer by stimulating the immune system.
The use of electronic cigarettes (e-cigarette) and vaping devices started as a potential aid for cessation and reducing the harmful consequences of cigarette smoking, mainly in the adult population. Today e-ci...
Although Anorexia Nervosa (AN) patients show dysfunctional behaviour in information processing, visual and verbal memory performance, and different cognitive fields, regardless of their BMI, the literature on ...
Currently, there are a few detailed guidelines on the overall management of children and adolescents with moderate-severe atopic dermatitis. AD ​​is a complex disease presenting with different clinical phenoty...
Autoimmune encephalitis (AE) is a type of encephalopathy mediated by an antigenic immune response in the central nervous system. Most research related to autoimmune encephalitis (AE) is focused on early diagno...
COVID toes or chilblain-like skin lesions have been widely reported during COVID-19 pandemic. Most cases were described in patients with negative microbiological tests for SARS-CoV-2, therefore the possible re...
Evidence suggests that many parents who care for their children with cancer are affected by the care burden due to the chronic nature of the disease. The aim of this study was to determine the burden of care l...
In this study, we used the novel DeepGestalt technology powered by Face2Gene (FDNA Inc., MA, USA) in suggesting a correct diagnosis based on the facial gestalt of well-known multiple anomaly syndromes. Only mo...
Intercepting earlier suspected TB (Tuberculosis) cases clinically is necessary to reduce TB incidence, so we described signs and symptoms of retrospective cases of pulmonary TB and tried to evaluate which coul...
The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosom...
COVID-19 lockdown caused sudden changes in people’s lifestyle, as a consequence of the forced lockdown imposed by governments all over the world. We aimed to evaluate the impact of lockdown on body mass index ...
Epidemiologic data suggest an increased prevalence of pediatric food allergies and intolerances (FAIs) during the last decades. This changing scenario has led to an increase in the overall healthcare costs, du...
Children’s HIV-positive status disclosure is an essential component of chronic care & long-term disease management. The modalities of status disclosure are complex and vary across different communities. Althou...
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, especially aortic dilatations and arterial tortuosity, craniofacial and skeletal features, joint ...
Limping and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential diagnosis. An unusual etiology, is that of a hereditary neuropathy.
Long COVID-19 syndrome is a complex of symptoms that occurs after the acute SARS-CoV-2 infection, in the absence of other possible diagnoses. Studies on Long COVID-19 in pediatric population are scanty and het...
The Letter to the Editor to this article has been published in Italian Journal of Pediatrics 2023 49:12
The Letter to the Editor to this article has been published in Italian Journal of Pediatrics 2022 48:200
Ophthalmoplegic migraine, renamed "Recurrent Painful Ophthalmoplegic Neuropathy" (RPON) in 2013 by the International Headache Society is a rare neurologic disorder characterized by recurrent attacks of ophthalmop...
Providing appropriate care at birth remains a crucial strategy for reducing neonatal mortality and morbidity. We aimed to evaluate the consistency of practice and the adherence to the international guidelines ...
S100B is an established biomarker of brain development and damage. Lutein (LT) is a naturally occurring xanthophyll carotenoid mainly concentrated in the central nervous system (CNS), but its neurotrophic role...
SARS-CoV-2 infection in the pediatric age group has a milder course than in adults, but in some cases even children may present with severe forms or develop long-term consequences. The aim of this study was to...
The original article was published in Italian Journal of Pediatrics 2021 47:237
Influenza is a major cause of morbidity, mortality and exacerbation of extant chronic disease worldwide. Influenza vaccination is thus fundamental to reduce the burden of disease. In this study, we describe th...
BNT162b2 vaccine, developed by BioNTech and Pfizer ha recently approved for use in children aged 5 to 11 years. Recent data show evidence of safety on the administration and serious adverse events have been ra...
Pediatric facial nerve palsy is acute and mostly idiopathic; other causes are post-infectious forms.
The SARS-CoV-2 outbreak pushed the Italian government to start a strict lockdown, replacing school attendance with long-distance learning. This caused reduced exposure to sunlight but increased exposure to scr...
Wolf-Hirschhorn syndrome (WHS) is a well-defined disorder, whose core phenotype encompasses growth restriction, facial gestalt, intellectual disability and seizures. Nevertheless, great phenotypic variability ...
Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of diso...
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