Current Pediatric Reviews - Volume 14, Issue 2, 2018

Neuroblastoma derived from primitive cells of the sympathetic nervous system typically develops in the adrenal medulla or paraspinal ganglia. Neuroblastoma usually occurs sporadically, but familial cases are also observed. ALK and PHOX2B germline mutations can cause hereditary neuroblastoma, while a common genetic variation in chromosome 6p22 is associated to sporadic neuroblastoma. However, the aetiology of sporadic neuroblastoma is not exactly known. This embryonic malignancy generally represents the second most common solid tumour after central nervous system tumours throughout the world in childhood. Neuroblastoma is a complex disease that has different clinical courses, from metastatic spread to spontaneous regression. Spontaneous regression can occur without therapy in primary or metastatic site. Potential regression mechanisms primarily involve apoptosis, hypermethylation of subtelomeric DNA, immune response and Nerve Growth Factor (NGF) deprivation. Neuroblastoma is a heterogeneous tumour that can show many different chromosomal abnormalities; e.g. MYCN amplification, 1p deletion, unbalanced translocations involving chromosome 17, aneuploidies and Loss of Heterozygosity (LOH) events. Tyrosine kinase receptors TrkA, TrkB and TrkC, their ligands NGF, Brain-derived Neurotrophic Factor (BDNF) and Neurotrophin-3 (NT-3), and Aurora Kinase A (AURKA) play a regulatory role in differentiation, apoptosis, cell proliferation, tumourigenesis, angiogenesis or metastasis of neuroblastoma. TrkA expression is associated with differentiation or regression, depending on presence or absence of NGF, whereas TrkB and BDNF are mostly expressed in aggressive neuroblastomas with MYCN amplification. MYCN is amplified in 18-38% of neuroblastoma cases. MYCN amplification mechanism remains to be completely clarified. This paper reviews the biological/genetic features and their clinical importance in neuroblastoma.

Background: Thumb duplication, also called radial or preaxial polydactyly, is classified as an alteration of the radio-ulnar axis in the formation and differentiation of the hand plate, according to the Oberg, Manske and Tonkin classification. Objective: Radial polydactyly is a common upper limb malformation. This paper is a comprehensive analysis of radial polydactyly, its genetic explanation, classification, surgical techniques, functional results, as well as present and future scientific evidence on this congenital pathology. Conclusions: Radial polydactyly occurs most frequently as an isolated defect, but it may also occur in association with other abnormalities, or as part of a syndrome. The Wassel classification is the universal classification for thumb duplication. One of the limitations of it is the misclassification of the immature epiphysis. The Wassel classification not only refers to the pathoanatomy of the polydactyly but also guides the selection of various surgical techniques. Three well-defined surgical objectives should be ensured: thumb alignment, stability, and an acceptable final esthetic appearance. Tada score is a validated functional scale that takes into account the most common and limiting complications, namely clinodactyly and instability. Based on some recent strong research evidence, the JSSH assessment system provides the most reliable outcome of scores. More studies are required to provide evidence-based conclusions regarding the treatment of radial polydactyly.

The rise in Multidrug-resistant (MDR) infections has become a significant problem in both the developing countries and in the United States (U.S.). Specifically, MDR gram-negative infections are emerging, affecting not only adults but children as well. The specific gram-negative organisms that have been most concerning within the pediatric population include MDR P. aeruginosa, Enterobacteriaceae, and Acinetobacter spp. The increase in antimicrobial resistance rates is associated with various mechanisms with one of the most common being the production of beta-lactamases. Both Ceftazidime/Avibactam (CZA) and Ceftolozane/Tazobactam (C/T) are two recently approved antibiotics in the U.S. While both of these agents are inhibitors of beta-lactamase enzymes, there are differences between them that are important to understand. At this time, the data in children for these agents are extremely limited. The aim of this review is to describe the characteristics of these agents and their potential uses in pediatric patients.

Aim: Eczema or Atopic Dermatitis (AD) is associated with itch, sleep disturbance, impaired life quality, reduced skin hydration, impaired epidermal barrier function and colonization by Staphylococcus aureus (SA). We investigated an emollient with claimed multi-actions on barrier repair, antihistaminergic and antimicrobial effects. Methods: Consecutive AD patients were recruited. Swabs and cultures from eczematous areas, disease severity (SCOring Atopic Dermatitis score: SCORAD), quality-of-life (Children Dermatology Life Quality Index, CDLQI), Skin Hydration (SH), and Transepidermal Water Loss (TEWL) were obtained before and 4-week following usage of the emollient. Global or General Acceptability of Treatment (GAT) was obtained (as very good, good, fair or poor). Results: 30 AD patients were recruited. 73% reported “very good” or “good”, whereas 27% reported “fair” or “poor” GAT of the emollient. Following the use of the multi-action emollient, area affected, disease intensity and severity significantly improved, especially in the very good/good group (p=0.006-0.035). There was no significant improvement of itch or sleep scores, quality of life, SH, TEWL, S. aureus colonization status, or use of topical treatments. When compared with the historical data of another product, there was no statistical difference between the two creams. Conclusion: The emollient is acceptable in nearly three-quarter of AD patients. Patients that accept the moisturizer have less area affected, disease intensity and severity than the non-accepting counterparts following its usage. Despite claim for multi-action, there were no appreciable quality-oflife, anti-itch, skin barrier, and anti-microbial effects.

Background: Eczema or Atopic Dermatitis (AD) is a common chronic relapsing skin disease associated with impaired quality of life. Regular usage of moisturizer/emollient is the mainstay of management but acceptability of emollient is often suboptimal. We investigated if emollient acceptability is influenced by various clinical factors in AD. Methods: A survey on frequency of emollient usage, brands, clinical factors including disease severity (Nottingham Eczema Severity Score, NESS), quality of life (Children Dermatology Life Quality Index, CDLQI), Transpidermal Water Loss (TEWL), and Skin Hydration (SH) was performed. Acceptability was classified as very good, good, fair or poor. Results: We evaluated 128 AD patients. NESS correlated with CDLQI and the treatment domain of CDLQI. Emollient usage is elementary for AD treatment. 89.1% of patients reported that doctor's recommendation was the major source of advice when choosing an emollient. Aqueous cream (AQ) and petroleum-derived products were among the commonly used emollients. More aqueous cream users reported fair/poor acceptability (p=0.017) and lower SH (p<0.05). Linear regression showed that patients who thought their emollient as fair or poor were currently using AQ (p=0.003), their emollient not recommended by a doctor (p=0.035), with more severe disease (p=0.04), and had lower emollient usage in winter (p=0.05). Conclusion: Physicians play a pivotal role in assisting patients to select an emollient that they will accept and use consistently. The studied emollients are generally acceptable by over 80% patients. However, aqueous cream is least acceptable by patients, making it the least favorable emollient to recommend to patients.

Background: Strategies to prevent anaemia in preterm infants include drawing fewer blood samples, the use of recombinant human erythropoietin and iron supplementation. Although iron sulfate is the most commonly used pharmaceutical formulation for iron supplementation, there are few studies comparing different iron salts in infants. Objective: This is a study of retrospective data comparison of two groups of preterm infants receiving erythropoietin to evaluate the efficacy of iron bisglycinate chelate to iron sulfate. Subjects and Methods: Three-hundred infants of gestational age ≤32 weeks were enrolled: 225 were supplemented with iron sulfate (3 mg/kg/day) and 75 were supplemented with iron bisglycinate chelate (0.75 mg/kg/day). The effect on erythropoiesis was assessed with a general linear model that estimates the response variables (values for Haemoglobin, Haematocrit, absolute values and percentage Reticulocytes, Reticulocyte Haemoglobin content) based on treatment, time, birth weight, and gestational age. Results: Supplementation with iron bisglycinate chelate at a dose of 0.75 mg/kg/day demonstrated an efficacy comparable to iron sulfate at a dose of 3 mg/kg/day in both populations of preterm infants. The two cohorts had similar erythropoietic response, without significant differences. Conclusions: The higher bioavailability of iron bisglycinate chelate resulted in a lower load of elemental iron, a quarter of the dose, and achieved equivalent efficacy compared to iron sulfate. Iron bisglycinate chelate may appear to be an alternative to iron sulfate in the prevention and treatment of preterm newborn anaemia.

Objectives: To study the relationship between Non-Alcoholic Fatty Liver Disease (NAFLD) and sleep, Physical Activity (PA), and screen-time habits/behaviors among a multiethnic sample of overweight children/adolescents. Methods: A retrospective medical chart review (6/2013-7/2014) identified 209 patients (7-21 years old) who were overweight/obese (BMI > 85th% for age/sex). A follow-up telephone survey was completed among 130 of these patients' parents to obtain information on sleep, screen-time, PA habits, and socio-demographics. NAFLD was defined as ALT and/or AST levels above the age/sexadjusted cutoff value in the absence of medications or associated medical conditions. Logistic regression models were fitted to identify predictors of NAFLD by adjusting age, sex, heritage, and income. Results: Over a third (34%) of the sample (N=130, 55% males, 74% Hispanic) had NAFLD. Compared to non-Hispanics, Central American heritage subjects were over three times as likely to have NAFLD compared to non-Hispanics (OR=3.90, 95% CI, 1.23-12.37) after adjusting for socioeconomics and lifestyle habits. Subjects with low PA levels were at increased risk for NAFLD (aOR=4.52, 95% CI, 1.21-16.82) compared to their more active counterparts. Lower income families were over twice as likely to have NAFLD as higher income families (OR = 2.57, 0.95-6.96). Conclusions: Families residing from a Central American heritage are at significant risk for NAFLD versus their ethnic group counterparts. Identifying specific groups and risks for pediatric-onset NAFLD can inform and improve clinical practice and public health initiatives, especially as patient populations become more ethnically diverse across the nation.