Comprehensive health status and health-related quality of life of children at diagnosis of high-risk neuroblastoma: a multicentric pilot study.

Background: Neuroblastomas account for 8-10 % of all cancer diagnoses among children. Most patients present with advanced, high-risk disease and 90 % are less than five years old. The burden of morbidity and mortality is high and is quantifiable by measures of health-related quality of life (HRQL).

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.

Background: Childhood cancer has a poorly known etiology, and investigating the underlying genetic background may provide novel insights. A recognized association exists between non-chromosomal birth defects and childhood cancer susceptibility.

Methods: We performed whole-exome sequencing and chromosomal microarray analysis in a cohort of childhood cancer (22 individuals, 50% with congenital anomalies) to unravel deleterious germline variants.

Perceptions of Health Professionals on the Implementation of Integrative and Complementary Practices at a University Pediatric Hospital in Brazil: A Qualitative Interview Study.

Background: Despite an increase in use of pediatric complementary and integrative health (PCIH), many healthcare professionals still have an inadequate understanding of such practices and consider their use inappropriate, which might thwart implementation processes. In a qualitative interview study we examined the feedback of conventional healthcare professionals about the integrative practices provided to pediatric patients by an integrative team in a pediatric oncological hospital.

Methods: Fifteen semi-structured interviews were carried out with various conventional healthcare professionals in an university pediatric hospital in São Paulo, Brazil.

Health-related quality of life and functionality in primary caregiver of surviving pediatric COVID-19.

Objectives: To prospectively assess health-related quality of life (HRQoL), global functionality, and disability in primary caregivers of surviving children and adolescents after COVID-19.

Methods: A longitudinal observational study was carried out on primary caregivers of surviving pediatric post-COVID-19 patients ( = 51) and subjects without COVID-19 ( = 60). EuroQol five-dimension five-level questionnaire (EQ-5D-5L) and 12-question WHO Disability Assessment Schedule 2.

A longitudinal study of the peripheral and central auditory pathways in individuals with acute lymphoid leukemia.

Objective: To characterize the peripheral and central auditory pathways in individuals with Acute Lymphoid Leukemia (ALL) and compare assessment results before and during chemotherapy.

Method: The study included 17 subjects with ALL, divided into two age groups: 3 to 6 (11 individuals) and 7 to 16 years old (6 individuals). Each subject was evaluated twice (before and 3 to 6 months after chemotherapy treatment) with the following procedures: medical history survey, otoscopy, Pure-Tone Threshold (PTA) and speech audiometry, acoustic immittance measures, Brainstem Auditory Evoked Potentials (BAEP) and Long-Latency Auditory Evoked Potentials (LLAEP).

Major discrepancy between clinical diagnosis of death and anatomopathological findings in adolescents with chronic diseases during 18-years.

Objectives: To evaluate the inconsistency between clinical diagnosis of death and autopsy findings in adolescents with chronic diseases.

Methods: A cross-sectional study including a sample of adolescents' autopsies who died in a pediatric and adolescent tertiary hospital over 18 consecutive years. During this period, there were n = 2912 deaths, and n = 581/2912(20%) occurred in adolescents.

Acute promyelocytic leukemia in childhood and adolescence: treatment results of a modified AIDA protocol at a Brazilian center.

Acute promyelocytic leukemia currently presents an excellent chance of cure with protocols based on all-trans-retinoic acid (ATRA) and anthracycline or only differentiation agents. However, high early mortality rates continue to be reported METHODS: Between 2000 and 2018, patients were enrolled and retrospectively analyzed by medical records. A modified AIDA protocol, with a 1-year shortening of the treatment duration, reduction in the number of drugs and a strategy to reduce early mortality by the postponement of the initiation of anthracyclines were employed.

The implementation of an online mindfulness-based program for pediatric patients at a tertiary hospital in South America: a feasibility study protocol.

Background: The prevalence of chronic and complex pediatric health conditions has quickly risen over the last decades. Chronic and complex health conditions make pediatric patients and their families more susceptible to many distressing events during their lifespan. Mindfulness-based interventions have become a popular intervention for individuals living with chronic illnesses and have been adapted for pediatric populations with good results, including online versions.

promoter hypermethylation in oncological pediatric patients conceived by IVF.

The multifactorial etiology of pediatric cancer is poorly understood. Environmental factors occurring during embryogenesis can disrupt epigenetic signaling, resulting in several diseases after birth, including cancer. Associations between assisted reproductive technologies (ART), such as fertilization (IVF), and birth defects, disorders and other perinatal adverse events have been reported.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (, , , , , and ). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families.

Persistent symptoms and decreased health-related quality of life after symptomatic pediatric COVID-19: A prospective study in a Latin American tertiary hospital.

Objectives: To prospectively evaluate demographic, anthropometric and health-related quality of life (HRQoL) in pediatric patients with laboratory-confirmed coronavirus disease 2019 (COVID-19).

Methods: This was a longitudinal observational study of surviving pediatric post-COVID-19 patients (n=53) and pediatric subjects without laboratory-confirmed COVID-19 included as controls (n=52) was performed.

Results: The median duration between COVID-19 diagnosis (n=53) and follow-up was 4.

Novel and Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss.

Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the gene. The gene encodes the protein tyrosine phosphatase receptor Q and is essential for the normal maturation and function of hair bundle in the cochlea. Homozygous mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with vestibular dysfunction.

MUSIC INTERVENTIONS IN PEDIATRIC ONCOLOGY: Systematic review and meta-analysis.

Background: Pain is a disagreeable and distressing feeling that affects human beings in multi-dimensional ways. A number of non-pharmacological interventions have had varying degrees of success in treating cancer-related pain, such as breathing and relaxation techniques, and music therapy, which have been identified as beneficial therapies for alleviating pain and anxiety.

Objective: Identify the therapeutic effects of music interventions in psychological and physiological terms and on the quality of life of children undergoing cancer treatment.

Caesarean sections, prenatal and postnatal conditions and childhood acute lymphoblastic leukaemia: A case-control study in the State of São Paulo, Brazil.

Introduction: Brazil has high rates of caesarean sections, which has been suggested as a risk factor for acute lymphoblastic leukaemia (ALL). In addition, some pre- and postnatal conditions have been identified as relevant in the etiology of ALL.

Objectives: Investigate the association of caesarean sections, pre- and postnatal conditions with childhood ALL in the State of São Paulo.

Impact of Pediatric Hematopoietic Stem-Cell Transplantation on Craniofacial Growth.

Objectives: To assess the craniofacial skeletal growth in pediatric hematopoietic stem-cell transplantation (HSCT) survivors in comparison with age-sex matched-paired controls.

Methods: A case-controlled retrospective comparison of the craniofacial growth in 25 HSCT children and 25 matched-paired controls was conducted. Craniofacial growth was quantitatively assessed by linear and angular measurements in panoramic radiographic images using ImageJ¯.

PEDIATRICIANS AFTER RESIDENCY: A SURVEY OF PERSONAL/PROFESSIONAL DATA AND ISSUES.

Objective: To assess personal, professional, medical, and scientific educational characteristics and issues reported by pediatricians.

Methods: Cross-sectional study based on an online survey including 614 pediatricians who graduated in the last 15 years at a University Pediatric Department in Brazil.

Results: The response rate was 331/614(54%).

XAF1 as a modifier of p53 function and cancer susceptibility.

Cancer risk is highly variable in carriers of the common R337H founder allele, possibly due to the influence of modifier genes. Whole-genome sequencing identified a variant in the tumor suppressor (E134*/Glu134Ter/rs146752602) in a subset of R337H carriers. Haplotype-defining variants were verified in 203 patients with cancer, 582 relatives, and 42,438 newborns.