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Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, c...
Despite the implementation of preventive measures to counteract the obesity epidemics, the prevalence of childhood obesity is still alarming all over the world. Childhood obesity is the most common risk factor...
Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, ...
The neonatal outcomes across different percentiles of birth weight for gestational age are still unclear.
Antiretroviral treatment failure is a global issue, particularly in developing countries such as Sub-Saharan Africa. Prior research findings were highly variable and inconsistent across areas. As a result, the...
Human Milk is the best option for infant feeding; and for this reason, it should be promoted, protected, and supported. HM is an individual-specific-dynamic biofluid, characterized by an extreme variability in...
Motor competence (MC) is a key component reflecting one’s ability to execute motor tasks and is an important predictor of physical fitness. For adolescents, understanding the factors affecting MC is pertinent ...
We conducted this study to assess the impact of an intervention to interrupt mother-to-child transmission on the height and weight of syphilis-exposed infants after receiving penicillin prophylaxis after birth...
In septic arthritis, joint lavage can be performed using arthrocentesis (articular needle aspiration) or arthrotomy. The use of fluoroscopy to guide the puncture involves radiation. Ultrasound (US) guidance is...
Docosahexaenoic acid (DHA) has been reported to be associated with the children’s neurodevelopment, who may be exposed to tobacco smoke simultaneously. The evidence about joint effect of DHA intake and tobacco...
Chest physiotherapy for airway clearance is not recommended in children hospitalized with bronchiolitis. The updated Cochrane meta-analysis suggests that slow expiratory techniques could slightly improve clini...
This study aims to report the phenomenon of Myelin oligodendrocyte glycoprotein antibody-associated encephalitis induced by Mycoplasma pneumoniae infections and promote the potential benefits of combining early i...
Multisystem Inflammatory Syndrome in Children (MIS-C) is a rare complication, which develops within 3–6 weeks after SARS-CoV2 infection. The coronavirus disease 2019 (COVID-19) vaccine was firstly introduced i...
The Coiled-Coil Domain-Containing Protein 88 A (CCDC88A) gene encodes the actin-binding protein Girdin, which plays important roles in maintaining the actin cytoskeleton and in cell migration and was recently ass...
Silver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features ...
Imerslund-Gräsbeck syndrome (IGS) is an autosomal recessive disorder characterized by selective vitamin B12 malabsorption, resulting in vitamin B12 deficiency and impaired reabsorption of proximal tubular prot...
Respiratory disease is a predominantly observed problem in neonates. Moreover, the application of flexible bronchoscopy in newborns is gradually increasing. This study aimed to investigate the value of broncho...
Neurocognitive disorders frequently occur in patients with cyanotic congenital heart disease (CCHD) because of the hemodynamic abnormalities induced by preoperative cardiac structural changes. We aimed to eval...
Cerebral palsy includes a spectrum of neurodevelopmental disorders caused by brain damage, leading to impairment of movement, posture, and balance for a lifetime. There are many therapeutic interventions for c...
Some chromatinopathies may present with common clinical findings (intellectual disability, brain and limb malformation, facial dysmorphism). Furthermore, one of their cardinal shared features is growth dysregu...
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria. IGS is caused by a disfunction of...
Echocardiography-based ultrasomics analysis aids Kawasaki disease (KD) diagnosis but its role in predicting coronary artery lesions (CALs) progression remains unknown. We aimed to develop and validate a predic...
The aim was to investigate the clinical characteristics, treatment and prognosis of neonatal influenza.
Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of ...
Pentraxin 3 (PTX3) is an acute-phase reactant that is elevated in the plasma during inflammatory responses. We aimed to evaluate the utility of PTX3 as a clinical marker in children with lower respiratory trac...
In developing countries birth asphyxia is a major cause of neonatal morbidity and mortality. Despite the implementation of various strategies and interventions to combat neonatal mortality rates, birth asphyxi...
Exclusive breastfeeding during postpartum hospitalization is very important for ensuring the success of breastfeeding at home. The aim of the study is to determine if the on-site nurse in rooming in improves e...
External Jugular Thrombophlebitis (EJT) is a rare clinical phenomenon with few reports in the literature, especially in the pediatric population. This is a report of an unusual case of right-sided EJT in a ped...
To evaluate the impact of implementation of 2019 European respiratory distress syndrome (RDS) guidelines on the incidence of bronchopulmonary dysplasia (BPD).
Despite the worldwide increasing incidence of Group A Streptococcus (GAS) infections reported since December 2022, data on noninvasive GAS (nGAS) infections in the post COVID-19 era are limited. By a self-repo...
Reports on coronavirus disease 2019 (COVID-19) in neonates are limited, especially in patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) Omicron variant. This study aims to ana...
Group B Streptococcus (GBS) is a major cause of sepsis and meningitis in newborns. The Centers for Disease Control and Prevention (CDC) recommends to pregnant women, between 35 and 37 weeks of gestation, universa...
This study aimed to compare targeted next-generation sequencing (tNGS) with metagenomic next-generation sequencing (mNGS) for pathogen detection in infants with severe postoperative pneumonia after congenital ...
The cycle threshold (Ct) value is inversely proportional to the number of copies of the target region in a sample, suggesting that a low Ct value indicates a high pathogen load. The relationship between Ct val...
Prematurity-related brain injury is a common and serious complication that has long-term effects on the survival and development of affected infants. Currently, the roles of certain biomarkers such as the prot...
This study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation betwee...
This study delves into the risk perceptions of Italian pediatricians concerning climate change's impact on children's health. Given children's heightened vulnerability to climate-related health risks, comprehe...
The Correction to this article has been published in Italian Journal of Pediatrics 2024 50:211
Neonatal hypoxic ischemic encephalopathy (HIE) leads to different degrees of neurological sequelae. The incidence of HIE is relatively high, and the causal pathways leading to HIE are still controversial. This...
At present, preterm infants with respiratory distress syndrome (RDS) in China present higher mortality and morbidity rates than those in high-income countries. The aim of this nationwide survey was to assess t...
The significant impact of acute respiratory tract infections on healthcare systems is well-documented, given their contribution to emergency department admissions, hospitalizations, and increased use of antibi...
Positional plagiocephaly is an asymmetrical flattened skull deformity whose incidence increased significantly in the last decades. Osteopathic treatment has been suggested to tackle early deformational sequenc...
Human Immune deficiency Virus (HIV) infected children are at higher risk of developing pneumonia. Particularly, in the early phase of HIV infection, the risk of acquiring pneumonia is high, and it remains a ma...
Recently, the development of advanced, noninvasive methods has allowed the study of respiratory function even in uncooperative infants. To date, there is still little data on the application of this technique ...
Systemic Lupus Erythematosus (SLE) patients are more likely than the general population to suffer from thyroid illness. The major goal was to assess the thyroid dysfunctions due to immunological factors in Egy...
Carboxylesterase 1(CES1) is expressed mainly in the liver and adipose tissue and is highly hypothesized to play an essential role in metabolism. Our study aimed to investigate the association between CES1 and ...
Elevated lipoprotein (Lp(a)) levels are associated with increased risk of atherosclerotic processes and cardiovascular events in adults. The amount of Lp(a) is mainly genetically determined. Therefore, it is i...
The original article was published in Italian Journal of Pediatrics 2024 50:119
Consistent evidence increasingly highlights the significance of integrating sex and gender medicine to ensure a precision approach according to individual patient needs. Gender discrepancies emerge across vari...
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease that leads to multiple organ dysfunction. The advent of disease-modifying treatments makes the early diagnosis of SMA critical. Heal...
Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined includin...
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