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A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case...
Infections are common complications occurring in malnourished childrenas a result of impaired immunity. Urinary tract infections (UTI) have been found to be the commonest cause of fever in normal children in d...
Bloodstream infection (BSI) is one of the most common causes of nosocomial infection in neonatal intensive care units (NICU). The aim of the present study was to determine bacterial agents and their susceptibi...
Both extensively hydrolysed formulas (eHF) and amino acid-based formula (AAFs) have been demonstrated effective for the treatment of CMA. However, in clinical practice, parents complain that hydrolysates are r...
The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited...
Respiratory Syncytial Virus (RSV) is one of the main causes of respiratory infections during the first year of life. Very premature infants may contract more severe diseases and ‘late preterm infants’ may also...
Aim of this commentary is to summarize the salient literature news on the relationships between autoimmune thyroid diseases (ATDs) and either Down syndrome (DS) or Turner syndrome (TS).
Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have be...
Acute otitis media (AOM) is one of the most common childhood infectious diseases. The recent Italian Pediatric Guidelines for the treatment of AOM constitutes a step forward in the management of children with ...
Weaning (or introduction of complementary feeding) is a special and important moment in the growth of a child, both for the family and the infant itself, and it can play a major role in the child’s future heal...
To retrospectively identify the individual risk factors for the urethrocutaneous fistula (UCF) in pediatric patients after hypospadias repair (HR) with onlay island flap urethroplasty.
Nutritional habits are a useful way to characterize whole diets and they are also known to be influenced by a wide range of social and economic factors. The above factors in each country may have different eff...
Acute respiratory infections (ARIs) cause illness. Children under five years of age are highly vulnerable to these infections. Viral coinfection or multiple viral infection is a variable that can have a signif...
The diagnosis of epilepsy should be made as early as possible to give a child the best chance for treatment success and also to decrease complications such as learning difficulties and social and behavioral pr...
HOXA genes cluster plays a fundamental role in embryologic development. Deletion of the entire cluster is known to cause a clinically recognizable syndrome with mild developmental delay, characteristic facies,...
It is of high incidence of brain injuries in premature infants, so it is necessary to diagnose and treat the brain injury early for neonatal clinical practice. We are aimed to investigate the relationship betw...
Children with massive ascites can develop abdominal compartment syndrome (ACS), which has been identified as an independent risk factor for mortality.
The main modifiable risk factors for obesity are related to lifestyle and significantly influenced by the family, environment and culture. We aimed to estimate the prevalence of overweight/obesity and associat...
Severe infections represent the main cause of neonatal mortality accounting for more than one million neonatal deaths worldwide every year. Antibiotics are the most commonly prescribed medications in neonatal ...
Currently, there is no evidence whether ganciclovir, or its oral prodrug valganciclovir, penetrates into the cerebrospinal fluid of human infants treated for congenital cytomegalovirus infection. Here, we repo...
We compared the efficacy of and consistency in manual ventilation by trained healthcare professionals using three devices: self-inflating bag, flow-inflating bag, and T-piece resuscitator.
Using data from the Hospital Discharge data-base (SDO) and from the Certificate of Delivery Assistance data-base (CedAP) we analysed mode of delivery and neonatal care in public and private hospitals in Lombar...
Ataxia-Telangiectasia is a rare multisystem autosomal recessive disorder [OMIM 208900], caused by mutations in Ataxia-Telangiectasia Mutated gene. It is characterized by neurological, immunological and cutaneo...
Thoracic outlet syndrome (TOS) is largely overlooked in children and adolescents because the condition is not widely viewed as a pediatric disorder. This study aimed to clarify the causes, best treatment appro...
Analyse through a multi-choice anonymous questionnaire the knowledge’s level in paediatric residents and fellows in two different main Italian hospital, looking mainly to the information to patients and relati...
Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers. Several clinical subtypes have been described, ac...
Nephrotic syndrome remains the most common manifestation of glomerular disease in childhood. Minimal change nephropathy is the most common cause of the syndrome in children. Despite its initial high response r...
According to UNICEF, 40% of all under-5 deaths occur within the first month of life and half of these within the first few days of life. Many of these deaths are related to late recognition of neonatal illness...
Continuous glucose monitoring (CGM) originally was developed for diabetic patients and it may be a useful tool for monitoring glucose changes in pediatric intensive care unit (PICU). Its use is, however, limit...
Iron deficiency in infancy is associated with a range of clinical and developmentally important issues. Currently, it is unclear what is the optimal timing to administer prophylactic enteral iron supplementati...
Familial Mediterranean fever (FMF) is an inflammatory disease, which is suggested to be associated with increased risk of atherosclerosis. Epicardial adipose tissue (EAT) thickness and the mean platelet volume...
A relationship between low levels of serum vitamin D and respiratory infections has been established. No study has examined the frequency and clinical relevance of vitamin D deficiency in patients with primary...
The prevalence of pediatric food allergy and anaphylaxis has increased in the last decades, especially in westernized countries where this emerging phenomenon was marked as a “second wave” of the allergic epid...
Hemophilia B is a rare X-linked recessive disorder with plasma factor IX (FIX) deficiency. 1-3% of patients treated with exogenous FIX-containing products develop inhibitors (i.e. polyclonal high affinity immu...
For too long children have received medicines not sufficiently studied for their needs and, in fact, being considered as small replicas of adults, it was deemed sufficient to adjust the dosage of a drug approv...
Treatments for childhood obesity are critically needed because of the risk of developing co-morbidities, although the interventions are frequently time-consuming, frustrating, difficult, and expensive.
Mechanical ventilation is a therapeutic action for newborns with respiratory diseases but may have side effects. Correct equipment knowledge and training may limit human errors. We aimed to test different neon...
A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous café-au-lait spots (seven larger than...
To explore parents’ experiences and perceptions on informational, management and relational continuity of care for children with special health care needs from hospitalization to the first months after dischar...
Persistent pulmonary hypertension of the newborn (PPHN) is a cyanogenic plurifactorial disorder characterized by failed postnatal drop of pulmonary vascular resistance and maintenance of right-to-left shunt ac...
‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial d...
Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, mic...
The most usual presentation of Plesiomonas shigelloides infection is an acute gastroenteritis, and extraintestinal manifestations are extremely rare. We reported the first neonate with P. shigelloides meningoence...
The Paediatric Residency Program (PRP) of Padua, Italy, developed a set of questionnaires to assess the quality of the training provided by each faculty member, the quality of the professional experience the r...
Regarding the recently published review ”Looking for new treatments of Infantile Colic“ by Savino et al. we want to add that positive effects of acupuncture have been demonstrated to release pain and agitation...
Aetiology of childhood leukaemia and childhood neoplasm is poorly understood. Information on the prevalence of risk factors in the childhood population is limited. SETIL is a population based case–control stud...
Birth asphyxia is an insult to the fetus or newborn due to failure to breath or breathing poorly, leads to decrease oxygen perfusion to various organs. According to WHO, 4 million neonatal deaths occurred each...
Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP) in children. The aim of this study was to assess the prevalence of Mycoplasma pneumoniae infection in children with CAP and find clin...
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enz...
Atypical hemolytic uremic syndrome (aHUS) is a rare and heterogeneous disorder. The first line treatment of aHUS is plasma therapy, but in the past few years, the recommendations have changed greatly with the ...
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