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Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LS...
A statement of consensus was formulated after reviewing available literature on pediatric treatment strategies for COVID-19 by the Steering and Scientific Committee of the Italian Society of Infectious Pediatr...
Neonatal mortality remains a serious public health concern in developing countries including Ethiopia. Ethiopia is one of the countries with the highest neonatal mortality in Africa. However, there is limited ...
Coronavirus disease 2019 (COVID-19), a highly contagious viral disease has spread from Wuhan, Hubei Province, China to all over the world from its first recognition on December 2019. To date, only a few neonat...
Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose...
Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfe...
This is the report of the first official survey from the Italian Society of Pediatric Surgery (ISPS) to appraise the distribution and organization of bedside surgery in the neonatal intensive care units (NICU)...
Pediatricians have observed a significant decrease in in-person child health visits during the COVID-19 pandemic. In the post lockdown period, the coronavirus trend remains positive in Italy but fears of a sec...
Facial masks may be one of the most cost-effective strategies to prevent the diffusion of COVID 19 infection. Nevertheless, fake news are spreading, alerting parents on dangerous side effects in children, such...
Congenital Hyperinsulinism typically occurs with a neonatal hypoglycemia but can appear even in childhood or in adolescence with different types of glucose metabolism derangements. Current diagnostic algorithm...
For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised c...
Hemophilia A (HA) is an X-linked recessive bleeding disorder characterized by qualitative and quantitative deficiency of factor VIII (FVIII). The development of inhibitor antibodies against FVIII is the most c...
To describe the epidemiological aspects of nocturnal enuresis (NE). In this study we identify the prevalence and the familial conditions in a large, representative sample of children with monosymptomatic NE (M...
To investigate the effect of pathological staging of chorioamnionitis (CA) on complications in preterm infants;
An amendment to this paper has been published and can be accessed via the original article.
The original article was published in Italian Journal of Pediatrics 2020 46:118
Bleedings are more frequent in the population of preterm children than among those born at term, much less in older children. The reasons for such bleedings in preterms include plasma factor deficiencies, imma...
Mothers in low socio-economic conditions frequently have low birth weight infants. Inaddition Physically demanding work during pregnancy also contributes to poor fetal growth. During gestation a woman needs ba...
Anticipatory guidance for parents is commonly used to improve parenting skills. The objective of this pre/post-intervention controlled study was to evaluate the effectiveness of a periodic newsletter with advi...
Undernutrition remains a major public health concern affecting both children and adolescents in Ethiopia. However, little attention has been given to the undernutrition of primary school-aged children, with th...
The Correction to this article has been published in Italian Journal of Pediatrics 2020 46:126
Cerebral venous sinus thrombosis in children is a rare but potentially fatal complication of acute mastoiditis, one of the most common pediatric infectious diseases. Due to its subtle clinical presentation, su...
Recent reports have described in the pediatric population a new type of hyperinflammatory response manifested following contact with SARS-CoV-2, with some of the clinical features attributable to Kawasaki dise...
Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis...
Growth failure and growth hormone deficiency (GHD) have been reported as one accessory feature of GLUT1 deficiency syndrome (GLUT1DS), considered so far as a long-term adverse effects of ketogenic diet which i...
Necrotizing enterocolitis (NEC) and supraventricular tachycardia (SVT) are serious emergencies in the neonatal period. Although these conditions are recognized as distinct pathologies, literature reports sugge...
An amendment to this paper has been published and can be accessed via the original article.
The original article was published in Italian Journal of Pediatrics 2020 46:104
An amendment to this paper has been published and can be accessed via the original article.
The original article was published in Italian Journal of Pediatrics 2020 46:96
Chickenpox is a highly contagious airborne disease caused by the varicella zoster virus. It is generally benign and self-limiting, but it may be responsible of life-threatening complications. Acute cerebelliti...
Hepatoblastoma (HB) is the most common malignant liver tumor in children. Abnormal activation of the Wnt/β-catenin signaling pathway plays an important role in the formation and development of HB. Genes in HB ...
Transition from intrauterine to extrauterine life is a critical phase during which several changes occur in cardiovascular system. In clinical practice, it is important to have a method that allows an easy, ra...
Listeria monocytogenes is a Gram-positive bacteria transmitted to human by animal stools, contaminated water and food.
Myositis ossificans (MO) is a heterotopic bone formation in soft tissues, usually caused by traumas or neuropathies. Although the aetiology remains unclear, MO is supposed to be an osteoblast metaplasia with a...
Allergic transfusion reactions (ATRs) are immunological reactions after transfusion. Interleukin-1 (IL-1) is a critical regulator for human diseases. We performed this study to investigate the association of t...
Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are ...
Pregnancy may represent a time of exceptional vulnerability to intimate partner violence because of changes in women’s conditions. Despite the fact that intimate partner violence during pregnancy confers consi...
Despite to PFAPA syndrome is considered a benign and self-limited condition in childhood its impact on patients and families can be remarkable in many cases. Currently, the therapeutic options for managing are...
Digital health technologies carry the great potential of assisting physicians in making well-informed diagnostic and therapeutic decisions. In allergy care, electronic clinical diaries have been recently used ...
During the last decade several paediatric studies have been published with different possible indications for probiotics, leading to a global increase of probiotics’ market. Nevertheless, different study desig...
The Correction to this article has been published in Italian Journal of Pediatrics 2020 46:116
Pediatric obesity is one of the most relevant health issues of the last century. Obesity-related short and long-term consequences are responsible of a large amount of economic cost. In addition, the different ...
Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (R...
In the pediatric setting, management of pain in the emergency department – and even in common care – is a challenging exercise, due to the complexity of the pediatric patient, poor specific training of many ph...
Preterm infants have an increased risk of cognitive and behavioral deficits and cerebral palsy compared to term born babies. Especially before 32 weeks of gestation, infants may require respiratory support, bu...
The Sudden Unexpected Infant Death Syndrome (SUID) is one of the leading causes of mortality in the first year of life. The aim of this work was the retrospective evaluation of the incidence of SUID and the ef...
Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are respons...
Complications of acute sinusitis affecting multiple sites are very uncommon, and generally develop for a delayed diagnosis of the primary infection, with possible severe and life-threatening evolution. Patient...
Tracheal agenesis (TA) is a rare disorder usually diagnosed prenatally when a congenital high airway obstruction syndrome (CHAOS) is identified. We present a case of unexpected TA in a neonate without prenatal...
The Correction to this article has been published in Italian Journal of Pediatrics 2020 46:115
MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. Both the MED13L h...
Using available official data we found 248 epidemics curves caused worldwide by the 2019-nCoV in the period December 2019–March 31st 2020. The analysis of this material allowed two main observations: 1) it is ...
Allergic rhinitis (AR) and adenoidal hypertrophy (AH) are the most frequent causative disorders of nasal obstruction in children, leading to recurrent respiratory infections. Both nasal cavities are colonized ...
Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condit...
Since the outbreak of COVID-19 pandemic, the number of cases registered worldwide has risen to over 3 million. While COVID-19 per se does not seem to represent a significant threat to the pediatric population,...
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