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Topic Review
Steroid-Induced Iatrogenic Adrenal Insufficiency
This entry focuses on steroid-induced adrenal insufficiency (SIAI) in children and discusses the latest findings by surveying recent studies. SIAI is a condition involving adrenocorticotropic hormone (ACTH) and cortisol suppression due to high doses or prolonged administration of glucocorticoids. While its chronic symptoms, such as fatigue and loss of appetite, are nonspecific, exposure to physical stressors, such as infection and surgery, increases the risk of adrenal crisis development accompanied by hypoglycemia, hypotension, or shock. The low-dose ACTH stimulation test is generally used for diagnosis, and the early morning serum cortisol level has also been shown to be useful in screening for the condition. 
  • 5.7K
  • 20 Jan 2021
Topic Review
Factors Affecting Sleep Quality
Sleep quality is one of the domains of sleep. Having adequate quality sleep is defined as one’s “feeling fresh” after waking-up. Inadequate sleep quality results in sleep insufficiency producing a variety of symptoms and signs. The central nervous system is affected the most in children, although other system too may be involved. Several factors affect sleep quality in children including genetics, sleep habits, medical problems, parents/caregiver factors, screen time and the child’s environment. These factors are inter-related and dynamic. The outcome of sleep insufficiency is many involving neurocognitive and neurobehavior, mood and emotional issues and specific conditions, like pulmonary hypertension, cor pulmonale and obesity. 
  • 5.2K
  • 28 Apr 2021
Topic Review
Anemia in Kawasaki disease
Kawasaki disease (KD) is an acute childhood vasculitis syndrome that affects the walls of both small- and medium-sized blood vessels (vasculitis), especially coronary arteries. Anemia is a common clinical feature in KD patients and is thought to have a more prolonged duration of active inflammation. In this review, we will discuss the anemia in KD, possibility of hemolysis, the necessity of iron supplementation and importance of anemia in the pathogenesis of KD.
  • 5.2K
  • 05 Nov 2020
Topic Review
Bariatric Surgery in Adolescents
Pediatric obesity is a multifaceted disease that can impact physical and mental health. It is a complex condition that interweaves biological, developmental, environmental, behavioral, and genetic factors. In most cases lifestyle and behavioral modification as well as medical treatment led to poor short-term weight reduction and long-term failure. Thus, bariatric surgery should be considered in adolescents with moderate to severe obesity who have previously participated in lifestyle interventions with unsuccessful outcomes.
  • 3.5K
  • 01 Jun 2021
Topic Review Peer Reviewed
Urine Organic Acid Testing in the Clinical Laboratory: The Past, Current, and Future
Organic acidurias, a subgroup of inborn errors of metabolism (IEMs), are characterized by the accumulation of non-amine-containing, low-molecular-weight organic acids (OAs) in urine and/or plasma due to defects in specific metabolic pathways. Early diagnosis can be critical to enable timely intervention to prevent irreversible neurological injury or death. Therefore, urine organic acid (UOA) testing plays an indispensable role in the differential diagnosis of symptomatic individuals and the follow-up of abnormal newborn screen results. Historically, gas chromatography-mass spectrometry (GC-MS) has been the gold standard method, with well-established protocols for sample preparation and result interpretation. Recent advances in liquid chromatography-mass spectrometry (LC-MS), including both triple quadrupole and high-resolution Quadrupole Time-of-Flight (QTOF) platforms, have enabled UOA analysis with simplified workflows and improved coverage to diagnose a broader array of IEMs. This review summarizes the evolution of UOA testing from manual colorimetric assays to mass spectrometry-based platforms, highlights the analytical and interpretative considerations of GC-MS, and explores emerging LC-MS technologies and bioinformatics tools that offer enhanced diagnostic capabilities and efficiency for the future of IEM testing.
  • 3.4K
  • 25 Sep 2025
Topic Review
Italian Experts’ Statements on Paracetamol/Ibuprofen in Children Fever/Pain
Fever and pain are challenging symptoms in children and adolescents and are common reasons for consultations in primary care and hospital. Paracetamol and ibuprofen are currently the only recommended drugs for treating fever in Italy, but the therapeutic approaches are discrepant in the different settings.
  • 3.0K
  • 08 Nov 2021
Topic Review
Neonatal Early-Onset Sepsis
Neonatal early-onset sepsis (EOS) is defined as an invasive infection that occurs in the first 72 h of life. The incidence of EOS varies from 0.5–2 per 1000 live births in developed countries, up to 9.8 per 1000 live births in low resource settings, generating a high mortality rate, especially in extremely low birth weight neonates. Clinical signs are nonspecific, leading to a late diagnosis and high mortality. Currently, there are several markers used for sepsis evaluation, such as hematological indices, acute phase reactants, cytokines, which by themselves do not show acceptable sensitivity and specificity for the diagnosis of EOS in neonates. Newer and more selective markers have surfaced recently, such as presepsin and endocan, but they are currently only in the experimental research stages.
  • 2.9K
  • 28 Sep 2021
Topic Review
Acute Disseminated Encephalomyelitis
Acute disseminated encephalomyelitis (ADEM) is an immune-mediated central nervous system (CNS) disorder, characterized by polyfocal symptoms, encephalopathy and typical magnetic resonance imaging (MRI) findings, that especially affects young children. Advances in understanding CNS neuroimmune disorders as well as the association of myelin oligodendrocyte glycoprotein antibody (MOG-Ab) with both monophasic and recurrent forms of ADEM have led to new insights into its definition, management and outcome.
  • 2.7K
  • 23 Nov 2020
Topic Review
Oxidative Stress in DiGeorge Syndrome
DiGeorge syndrome (DGS) is a rare genetic disease caused by microdeletions of the 22q11.2 region (DGS1). A haploinsufficiency at 10p level has been proposed also as a DGS cause (DGS2). Clinical manifestations are variable. The most frequent features are thymic hypoplasia or aplasia with consequent immune deficiency, cardiac malformations, hypoparathyroidism, facial and palatine abnormalities, variable degrees of cognitive impairment and psychiatric disorders. The specific aim of this descriptive report is to discuss the correlation between oxidative stress and neuroinflammation in DGS patients with microdeletions of the 22q11.2 region. The deleted chromosomic region maps various genes involved in mitochondrial metabolisms, such as DGCR8 and TXNRD2, that could lead to reactive oxygen species (ROS) increased production and antioxidant depletion.
  • 2.6K
  • 08 Mar 2023
Topic Review
AI and General movements (GMs)
       General movements (GMs) are spontaneous movements of infants up to five months post-term involving the whole body varying in sequence, speed, and amplitude. The assessment of GMs has shown its importance for identifying infants at risk for neuromotor deficits, especially for the detection of cerebral palsy. As the assessment is based on videos of the infant that are rated by trained professionals, the method is time-consuming and expensive. Therefore, approaches based on Artificial Intelligence have gained significantly increased attention in the last years.
  • 2.4K
  • 18 Feb 2021
Topic Review
Pediatric Dosage Forms
The development of pediatric-specific dose forms is particularly difficult due to a variety of factors relating to pediatric population differences from adult populations. The buccal dosage form is considered a good alternative to oral dosage form if the latter cannot be used in pediatric patients. Both oral and buccal dosage formulations uphold great application qualities for pediatric patients.
  • 2.3K
  • 18 Apr 2022
Topic Review
Chromosomal instability in Fanconi anemia
Fanconi anemia (FA), a chromosomal instability syndrome, is caused by inherited pathogenic variants in any of 22 FANC genes, which cooperate in the FA/BRCA pathway. This pathway regulates the repair of DNA interstrand crosslinks (ICLs) through homologous recombination. In FA proper repair of ICLs is impaired and accumulation of toxic DNA double strand breaks occurs. To repair this type of DNA damage, FA cells activate alternative error-prone DNA repair pathways, which may lead to the formation of gross structural chromosome aberrations of which radial figures are the hallmark of FA, and their segregation during cell division are the origin of subsequent aberrations such as translocations, dicentrics and acentric fragments. The deficiency in DNA repair has pleiotropic consequences in the phenotype of patients with FA, including developmental alterations, bone marrow failure and an extreme risk to develop cancer.
  • 2.2K
  • 15 Jan 2021
Topic Review
Childhood Asthma
Asthma is a complex and multifactorial respiratory disease with a high prevalence in the pediatric population. Variation in treatment response to asthma therapies has been described among patients, and difficult-to-treat asthma carries both high healthcare and socioeconomic burden to the patients and society. Omic studies can be used to discover the molecular mechanisms underlying asthma susceptibility and treatment response, contributing to a better knowledge and definition of asthma pathogenesis and therefore, to the development of precision medicine. This entry aims to summarize the recent findings of omic studies of treatment response in childhood asthma. Between 2018-2019 a total of 13 omic studies has been performed involving genomics, epigenomics, transcriptomics, metabolomics, and the microbiome. These have been focused on the response to three common asthma medications: short-acting beta agonists, inhaled corticosteroids, and leukotriene receptor antagonists. Novel associations of different biomarkers with asthma treatment response have been described. However, stronger evidence and more consistent results are required to implement these molecular biomarkers into clinical practice by establishing the most appropriate therapy for each patient.
  • 2.2K
  • 29 Oct 2020
Topic Review
Developmental Origins of Health and Disease (DOHaD) Hypothesis
The “developmental origins of health and disease” (DOHaD) hypothesis refers to the influence of early developmental exposures and fetal growth on the risk of chronic diseases in later periods. 
  • 2.2K
  • 11 Feb 2022
Topic Review
Impact of Oxidative Stress on Pediatrics Syndromes
Oxidative stress is a condition determined by an imbalance between antioxidant and oxidative factors. Oxidative stress can have serious consequences on our organism. Indeed, it causes both necrosis and cell apoptosis, determining cellular aging, increased carcinogenesis, vascular stiffening, increased autoimmune diseases, and muscle decay. 
  • 2.1K
  • 01 Nov 2022
Topic Review
LC-MS/MS for the Diagnosis of Organic Acidemias
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has already been used in many clinical laboratories for a broad range of clinical tests, such as therapeutic drug monitoring (TDM) and the analysis of hormones and vitamins, as well as organic acid analysis.
  • 1.9K
  • 06 Dec 2021
Topic Review
Children with Neurodevelopmental Disabilities
This entry aimed to undertake an extensive exploration of the extent, range, and nature of research activities regarding the effect and emerging evidence in the field of physical activity interventions on cognitive development among children and youth (0–17.99 years) with neurodevelopmental disorders (NDD), and to help identify key gaps in research and determine precise research questions for future investigations. To carry out this scoping review, five electronic databases were searched. A total of 12,097 articles were retrieved via search efforts with an additional 93 articles identified from the identified review papers. Sixty articles were eligible for inclusion. The results of this scoping review revealed many positive key cognitive outcomes related to physicalactivity including, but not limited to: focus, attention, self-control, cognitive process, and alertness. No studies reported a negative association between physical activity and cognitive outcomes. Based on the findings from this scoping review, physical activity appears to have a favorable impact on the cognitive outcomes of children and youth with NDD. 
  • 1.8K
  • 23 Mar 2021
Topic Review
Growth and Puberty in IBD
Inflammatory bowel diseases are characterized also by retarded growth and delayed puberty. The underlying mechanism of these and other extra-intestinal manifestations are partially known: the main hypotheses are malnutrition and inflammatory response.
  • 1.8K
  • 06 Nov 2020
Topic Review
Neurofibromatosis Type 1 and Brain
Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. 
  • 1.8K
  • 20 Apr 2021
Topic Review
Dietary Interventions in Attention Deficit Hyperactivity Disorder
Attention Deficit Hyperactivity Disorder (ADHD) is one of the most common neurodevelopmental disorders in childhood, affecting ~7% of children and adolescents. Specific dietary interventions have been proposed as coadjuvant treatments in this disorder. These include nutritional supplements with vitamins, minerals, and polyunsaturated fatty acids; microbiome-targeted interventions with pre-, pro-, and synbiotics; and specific diets such as restriction or elimination diets. Regarding nutritional supplements, only vitamin D and vitamin D + magnesium appear to improve ADHD symptoms when baseline levels of vitamin D are insufficient/deficient. As for biotics, evidence has only been found for Lactobacillus rhamnosus GG and for multi-species probiotic supplementation. Elimination diets have scarce evidence and lead to nutritional deficiencies, so caution is advised.
  • 1.8K
  • 30 Nov 2022
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