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A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malforma...
Effect of probiotics on children with autism spectrum disorders: a meta-analysis
Effect of probiotics on children with autism spectrum disorders: a meta-analysis
Researches have found that alteration of intestinal flora may be closely related to the development of autism spectrum dis...
Trends in hospitalizations of children with respiratory syncytial virus aged less than 1 year in Italy, from 2015 to 2019
Trends in hospitalizations of children with respiratory syncytial virus aged less than 1 year in Italy, from 2015 to 2019
Respiratory syncytial virus (RSV) affects 60–80% of children below 1 year and it’s the first cause of acute br...
Mycoplasma pneumoniae pneumonia-associated thromboembolism with plastic bronchitis: a series of five case reports and literature review
Mycoplasma pneumoniae pneumonia-associated thromboembolism with plastic bronchitis: a series of five case reports and literature review
Mycoplasma pneumoniae pneumonia is a common respiratory infection among children. However, the occurrence of thromboemboli...
Correlation of tuberculosis-related anemia severity with tuberculosis-induced inflammation in children: a six-year retrospective study
Correlation of tuberculosis-related anemia severity with tuberculosis-induced inflammation in children: a six-year retrospective study
Anemia is a common complication of tuberculosis (TB), and there is evidence that its prevalence is higher in patients with...
Pediatric ultrasound practice in Italy: an exploratory survey
Pediatric ultrasound practice in Italy: an exploratory survey
The aim of this exploratory survey is to describe the current state of US (ultrasound) technique across different pediatri...
Clinical application of voriconazole in pediatric patients: a systematic review
Clinical application of voriconazole in pediatric patients: a systematic review
The purpose of this study was to review the literature on the clinical use of voriconazole (VRC) in pediatric patients. ME...
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures deriv...
Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report
Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report
Lysinuric protein intolerance (LPI) is a multi-organ metabolic disorder characterized by the imbalance in absorption and e...
Development of eating skills in infants and toddlers from a neuropediatric perspective
Development of eating skills in infants and toddlers from a neuropediatric perspective
Early infant feeding and swallowing are complex motor processes involving numerous muscles in coordination, e.g. the orofa...
Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report
Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report
In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroi...
School refusal behavior in children and adolescents: a five-year narrative review of clinical significance and psychopathological profiles
School refusal behavior in children and adolescents: a five-year narrative review of clinical significance and psychopathological profiles
The aim of the study was to explore the clinical significance of school refusal behavior, its negative impact on psycholog...
Assessing basic motor competences, physical fitness, and executive function in 4-5-year-old children: a longitudinal study in a primary care setting
Assessing basic motor competences, physical fitness, and executive function in 4-5-year-old children: a longitudinal study in a primary care setting
To evaluate the progression of physical fitness (PF), basic motor competence (BMC), and executive function (EF) over one y...
Impact of COVID-19 pandemic on prescription of psychotropic medications in the Italian paediatric population during 2020
Impact of COVID-19 pandemic on prescription of psychotropic medications in the Italian paediatric population during 2020
There is a global perception that psychotropic utilization in children and adolescents is increasing, especially with the ...
Association of low vitamin D level and full-term early-onset neonatal sepsis; a case-control study
Association of low vitamin D level and full-term early-onset neonatal sepsis; a case-control study
Sepsis is one of the main causes of death in newborns worldwide. Vitamin D levels during fetal and neonatal periods have a...
Early adiposity rebound: predictors and outcomes
Early adiposity rebound: predictors and outcomes
Adiposity rebound (AR) refers to the second rise of the body mass index (BMI) curve that usually occurs between six and ei...
Incomplete immunization uptake and associated factors among children aged 12–23 months in sub-Saharan African countries; multilevel analysis evidenced from latest demography and health survey data, 2023
Incomplete immunization uptake and associated factors among children aged 12–23 months in sub-Saharan African countries; multilevel analysis evidenced from latest demography and health survey data, 2023
In 1974, the World Health Organization (WHO) established the Expanded Program on Immunization to control vaccine-preventab...
Best practices for the management of febrile seizures in children
Best practices for the management of febrile seizures in children
Febrile seizures (FS) are commonly perceived by healthcare professionals as a self-limited condition with a generally R...
Quadrivalent Live-Attenuated Influenza Vaccine in Milan preschools: an Italian experience of school-located flu vaccination within the 2022–2023 season
Quadrivalent Live-Attenuated Influenza Vaccine in Milan preschools: an Italian experience of school-located flu vaccination within the 2022–2023 season
In Italy, since the 2020–2021 flu season, the flu vaccine recommendation was extended to all children aged 6&nbs...
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome
congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) cond...
Diagnostic value of cytokines in severe childhood Mycoplasma pneumoniae pneumonia combined with Adenovirus infection
Diagnostic value of cytokines in severe childhood Mycoplasma pneumoniae pneumonia combined with Adenovirus infection
To explore the alterations of inflammatory markers and immune-related cytokines in children infected with Mycoplasma pneum...
Association between arachidonate lipoxygenase 15,c.-292 C > T gene polymorphism and non-cystic fibrosis bronchiectasis in children: a pilot study on the effects on airway lipoxin A4 and disease phenotype
Association between arachidonate lipoxygenase 15,c.-292 C > T gene polymorphism and non-cystic fibrosis bronchiectasis in children: a pilot study on the effects on airway lipoxin A4 and disease phenotype
Persistent airway inflammation is a central feature of bronchiectasis. Arachidonate 15-lipoxygenase (ALOX-15) controls pro...
Long-term benefits of exclusive human milk diet in small for gestational age neonates: a systematic review of the literature
Long-term benefits of exclusive human milk diet in small for gestational age neonates: a systematic review of the literature
Evidence about feeding practices’ consequences in small for gestational age newborns is not well established because...
Italian neonatal birthweight charts derived from INeS not separated by birth order
Italian neonatal birthweight charts derived from INeS not separated by birth order
Identifying high-risk neonates with abnormal fetal growth is crucial for health risk prediction and early intervention. Sm...
Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on g...
Assessment of the measurement properties of the Peabody Developmental Motor Scales-2 by applying the COSMIN methodology
Assessment of the measurement properties of the Peabody Developmental Motor Scales-2 by applying the COSMIN methodology
The Peabody Developmental Motor Scales-2 (PDMS-2) has been used to assess the gross and fine motor skills of children (0&#...
Pediatric torticollis: clinical report and predictors of urgency of 1409 cases
Pediatric torticollis: clinical report and predictors of urgency of 1409 cases
To date, the etiology and risk factors of torticollis are still poorly defined in the pediatric literature. Especially in ...
Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children
Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children
The variants of nucleoporins are extremely rare in hereditary steroid-resistant nephrotic syndrome (SRNS). Most of the pat...
Two cases of diquat poisoning in adolescent children
Two cases of diquat poisoning in adolescent children
Diquat (DQ) is among the most widely used herbicides, and its intake can cause severe systemic toxicity that manifests rap...
Changing clinical characteristics of pediatric inpatients with pneumonia during COVID-19 pandamic: a retrospective study
Changing clinical characteristics of pediatric inpatients with pneumonia during COVID-19 pandamic: a retrospective study
The COVID-19 pandemic have impacts on the prevalence of other pathogens and people’s social lifestyle. This study ai...
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