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Anorexia nervosa commonly arises during adolescence and is associated with more than one medical morbidity. Abnormalities in brain structure (defined as “pseudoatrophy”) are common in adolescents with anorexia...
Cannabis dependence in adolescents predicts increased risks of using other illicit drugs, poor academic performance and reporting psychotic symptoms. The prevalence of cannabis use was estimated two decades ag...
Palamaro et al. describe a child with recurrent bronchopneumonia and very high IgE levels in which a variation, R156H, was found in the IL12RB1 gene that encodes the IL-12Rβ1 chain. Based on the absence of this v...
Incomplete Kawasaki disease represents a diagnostic challenge for pediatricians. In the absence of classical presentation, the laboratoristic evaluation of systemic inflammation can help in placing the correct...
Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can...
Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe...
Aim of this survey is to report the most recent views about Hashimoto’s thyroiditis (HT) natural history according to the different presentations. In children presenting with either euthyroidism or subclinical...
According to the Barker hypothesis, the period of pregnancy and the intrauterine environment are crucial to the tendency to develop diseases like hypertension, diabetes, coronary heart disease, metabolic disor...
Vesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of ...
Subclinical hypothyroidism (SH) is a condition characterized by a mild persistent thyroid failure. The main cause is represented by autoimmune thyroiditis, but mutations in genes encoding proteins involved in ...
Children who were <1000 g (ELBW extremely low birth weight) at birth more frequently present with wheezing which is the most common reason that pediatric consultation is sought. Therefore asthma is diagnosed v...
Hemi-hydranencephaly is a very rare condition characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. Prenatal vascular dis...
Recently, a complete characterization and detailed evaluation of the glycosaminoglycans of human milk were performed. The total glycosaminoglycans content in milk from healthy mothers having delivered term or ...
Respiratory Syncytial Virus (RSV) is the most important cause of severe respiratory infections in infants with seasonal epidemics. Environmental factors (temperature, humidity, air pollution) could influence R...
Fractional exhaled nitric oxide (FeNO) is a non invasive method for assessing the inflammatory status of children with airway disease. Different ways to measure FeNO levels are currently available. The possibi...
The cardiovascular disease represents the leading cause of morbidity and mortality in Western countries and it is related to the atherosclerotic process. Cardiovascular disease risk factors, such as dyslipidem...
Herpes simplex encephalitis is associated with substantial morbidity and mortality and may be related to timely diagnosis and treatment. While awaiting the results of testing, hospitalization and empiric treat...
Among legumes, lentils seem to be the most common legume implicated in pediatric allergic reactions in the Mediterranean area and India, and usually they start early in life, below 4 years of age.
The use of complementary and alternative medicine (CAM) has not been widely studied among children in Italy. ISTAT-2005 survey showed a prevalence of 10% concerning children treated with CAM. The lack of data ...
Blastomycosis, caused by the thermally dimorphic fungus Blastomyces dermatitidis is a systemic pyogranulomatous infection, endemic in United States and Canada, with few reported cases in Africa and Asia. It is...
Birth defects are defined as those conditions that are substantially determined before or during birth and which are recognizable in early life. They are an important cause of morbidity and mortality in infant...
Neonatal testicular tumors are rare and should be considered in the differential diagnosis of newborn scrotal masses. Juvenile granulosa cell tumor (JGCT) accounts for about 5% of all prepubertal testis tumors...
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain.
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been des...
We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct dia...
To evaluate whether the addition of a probiotic could improve Helicobacter pylori (H.P.) eradication rates and reduce the side effects of treatment in children.
Severe tracheomalacia presents a significant challenge for Paediatricians, Intensivists, Respiratory Physicians, Otolaryngologists and Paediatric Surgeons. The treatment of tracheomacia remains controversial, ...
Acquired complete heart block, in pediatric age is mainly the results of direct injury to conduction tissue during cardiac surgery or cardiac catheterisation. It can also be observed in different clinical sett...
It’s well established that asthma, allergic rhinitis and rhinosinusitis are three closely related disease. In pediatrics, these conditions represent a common issue in daily practice. The scientific community h...
Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypok...
To evaluate medical, economical and sociological variables underlying avoidable pediatric migration from Campania region.
We report on a case of autoimmune thyroiditis in a 6-month-old patient with cortico-resistant nephrotic syndrome. Normal serum levels of thyroid hormons and thyroid-stimulating hormone were detected with high ...
Subclinical hypothyroidism (SH) is a relatively common condition characterized by a mild persistent thyroid failure. The management of children with SH is still a controversial issue and the decision to treat ...
The epidemics of overweight and obesity has resulted in a significant increase of non alcoholic fatty liver disease (NAFLD), a potentially progressive condition. Currently, obesity related hepatopathy represen...
Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. Most important clinical features of TS are short stature and go...
Iodine-131-metaiodiobenzylguanidine (131I-MIBG) therapy combined with allogeneic cord blood stem cell transplantation (SCT) was used to treat a 4-year-old girl with recurrent neuroblastoma. The patient experience...
An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and amniocentesis. 47, XYY karyotype occurs in about one o...
Nasal cytology is a very useful diagnostic tool in nasal disorders, being able to detect both the cellular modifications of the nasal epithelium caused by either allergen exposure or irritative stimuli (that m...
The sensitization to more allergens, such as polysenitization, is becoming a frequent characteristic of allergic patients, since the childhood. However, this phenomenon is considered an obstacle to prescribe i...
Antiphospholipid syndrome (APS) is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs). This syndrome may be associated with connective tissue disorder...
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ect...
We report on a female patient affected by galactosemia in whom the diagnosis was obscured by the concomitant presence of manifestations suggesting a cow’s milk intolerance. This case exemplifies the problems i...
Interleukin-12 (IL-12) is involved in cellular immune responses against intracellular pathogens by promoting the generation of T naive in T helper 1 (Th1) cells and by increasing interferon-gamma (IFN-gamma) p...
The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and...
We aimed to evaluate thyroid functions and volumes and detect abnormalities in 80 neonates with Down syndrome.
Exercise-induced anaphylaxis (EIA) is a distinct form of physical allergy. The development of anaphylaxis during exertion often requires the concomitant exposure to triggering factors such as intake of foods (...
Clustering of Autoimmune Diseases (CAD) is now emerging as a novel clinical entity within monogenic immune defects with a high familial occurrence. Aim of this study is to evaluate the regulatory mechanisms go...
It is well known that the natural history of chronic heart failure (CHF),regardless of age and aetiology,is characterized by progressive cardiac dysfunction refractory to conventional cardiokinetic, diuretic a...
Fever is an extremely common sign in paediatric patients and the most common cause for a child to be taken to the doctor. The literature indicates that physicians and parents have too many misconceptions and c...
Cardiomyopathy is noted in up to 40% of infants of diabetic mothers, and the exact mechanisms responsible for it are unknown. The aim of this study was to compare between infants of diabetic mothers (IDM) and ...
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