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‘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 ...
Most epidemiological studies have shown that the prevalence of high blood pressure (BP) has significantly increased among children and adolescents in various countries of the world.
Epidural analgesia is one of the most popular modes of analgesia for child birth. There are controversies regarding adverse effects and safety of epidural analgesia. This study was conducted to study the immed...
Food allergies are perceived as a significant problem in school environments; as a result, a teacher’s ability to recognise and deal with allergic reactions is of fundamental importance to protect children’s h...
Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III present...
The objective of our study is to evaluate the correlation between epidural analgesia during labor, start of breastfeeding and type of maternal-neonatal care.
Congenital tuberculosis (TB) is a rare disease with a high mortality rate, and is difficult to diagnose. Here we present a case of congenital TB detected by the T-SPOT.TB assay in a male infant after in vitro fer...
Acute cerebellar ataxia (ACA) is a relatively common neurological disease in children. Most common types of ACA are acute post-infectious (APCA) and acute disseminated encephalomyelitis (ADEM). Less common but...
Chronic hepatitis B (CHB) is a global health problem that can result in serious complications associated with collagen degradation. Prolidase is a specific imidodipeptidase that plays an important role in the ...
Aplasia cutis congenita (ACC) is usually located on the hairy scalp, on the vertex of the head, but can also occur in other locations, such as limbs, trunk. Congenital skin aplasia on the lower limb is very ra...
Recurrent respiratory infections (RRI), such as the presence of at least one of the following criteria: i) >6 RI per year; ii) >1 RI per month involving upper airways from September to April; iii) >3 RI involv...
Adequate preconception maternal health care is essential to reduce the risk of unwanted pregnancy outcomes and complications. Still, many women are exposed to a number of unhealthy risk factors both before and...
Osteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast's bone resorption. Three clinical forms can be identified based on severity, age of onset and inhe...
Migraine is a common disorder and a frequent cause of medical consultation in children. Many childhood episodic syndromes have been described as common precursors of migraine.
Ectopic hepatic lipid accumulation is closely related to the development of insulin resistance, which is regarded as one of the most significant risk factors of non-alcoholic fatty liver disease (NAFLD). The c...
The aim of this study was to evaluate the efficacy of abdominal massage on feeding tolerance in stable preterm infants fed minimal enteral nutrition.
Over the years 2009-2013, we conducted a prospective study within a network established by the Italian Society of Pediatrics to describe the in-hospital management of children hospitalized for acute bacterial ...
Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and other anomalies incl...
Kangaroo mother care (KMC) has been widely used to improve the care of preterms and low birth weight infants. However, very little is known about cerebral hemodynamics responses in preterm infants during KMC i...
The prognosis of children with congenital heart defects(CHDs) continues to improve with advancing surgical techniques; however, lack of information about modifiable risk factors for malformations in cardiovasc...
The World Health Organisation has recommended the use of anthropometric measurements as birth weight surrogates. However, it has been found that cut-off points for these anthropometric measurements vary across...
Acute bronchiolitis is the leading cause of lower respiratory tract infection and hospitalization in children less than 1 year of age worldwide. It is usually a mild disease, but some children may develop seve...
The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months.
The syndrome of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) is a rare disorder caused by mutations in the FOXP3 gene. Diarrhea, diabetes and dermatitis are the hallmark of the diseas...
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
This article is part of a Supplement: Volume 40 Supplement 2
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