Use of lung ultrasound in neonates during the COVID-19 pandemic.

In the current pandemic, caused by infection with severe acute respiratory syndrome coronavirus 2, ultrasound has played a fundamental role in patients who develop the resulting disease, designated coronavirus disease 2019 (COVID-19). In this study we present ultrasound images of the lungs of neonates with a suspected or confirmed diagnosis of COVID-19, distinguishing between the changes related to COVID-19 and those unrelated to the disease. Ultrasound examinations were performed by a pediatric sonographer.

Safety and immunogenicity of the quadrivalent human papillomavirus vaccine in patients with juvenile dermatomyositis: a real-world multicentre study.

Background: Concerns about the safety and efficacy of vaccines in patients with autoimmune diseases (AID) have led to contradictions and low vaccination coverage in this population, who are at a higher risk of infections, including by human papillomavirus (HPV). Although HPV vaccines have been recommended for immunocompromised patients, there is still a lack of data to support its use for AID patients, such as juvenile dermatomyositis (JDM) patients. The aim of this study was to assess the safety and immunogenicity of the quadrivalent HPV (qHPV) vaccine in a cohort of JDM patients.

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.

We report the clinical and molecular data of a large cohort comprising 242 individuals with RASopathies, from a single Tertiary Center in Brazil, the largest study from Latin America. Noonan syndrome represented 76% of the subjects, with heterozygous variants in nine different genes, mainly PTPN11, SOS1, RAF1, LZTR1, and RIT1, detected by Sanger and next-generation sequencing. The latter was applied to 126 individuals, with a positive yield of 63% in genes of the RAS/MAPK cascade.

Changing the view: Video versus direct laryngoscopy for intubation in the pediatric emergency department.

The aim of this study was to compare the success of first-attempt tracheal intubation in pediatric patients >1-year old performed using video versus direct laryngoscopy and compare the frequency of tracheal intubation-associated events and desaturation among these patients.Prospective observational cohort study conducted in an Academic pediatric tertiary emergency department. We compared 50 children intubated with Mcgrath Mac video laryngoscope (VL group) and an historical series of 141 children intubated with direct laryngoscopy (DL group).

Safety and immunogenicity of the quadrivalent human papillomavirus vaccine in patients with childhood systemic lupus erythematosus: a real-world interventional multi-centre study.

Objective: This study aimed to assess the safety and immunogenicity of the quadrivalent human papillomavirus (qHPV) vaccination in childhood-onset systemic lupus erythematosus (cSLE) patients.

Methods: Volunteer cSLE patients aged 9-20 years and healthy controls (HC) were enrolled to receive a two- or three-dose qHPV vaccination schedule from March 2014 to March 2016. Study visits were performed before the first dose, one month after the second and third doses and one year after the first dose.

Focal hyperechoic liver lesions in children: far beyond hemangiomas - pictorial essay.

The aim of this report was to present a selection of focal hyperechoic liver lesions of different etiologies, illustrating the wide spectrum of diagnostic possibilities for such lesions in the pediatric population.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or frameshift mutations in MESD. Affected individuals had recurrent fractures and at least one had oligodontia.

Ultrasound elastography in the evaluation of thyroid nodules: evolution of a promising diagnostic tool for predicting the risk of malignancy.

The elastic properties of tissue have always been of interest in clinical practice. In the past, the identification of structures that were stiffer on physical palpation would raise the suspicion that "there was something wrong". With the development and advancement of medicine, there proved to be a true correlation in the prediction of malignancy of a lesion: malignant disease tends to stiffen the affected tissue, either by increased cell proliferation or fibrosis.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids (HDLS), an adult-onset progressive neurodegenerative disorder. Here, we report seven affected individuals from three unrelated families who had bi-allelic CSF1R mutations.

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of .

Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in which females are more severely affected than males. Severe male phenotypes are associated with mosaicism, supporting cellular interference for sex bias in this disease. Although many variants have been found in the coding region of , only 2 pathogenic variants have been identified in the same nucleotide in 5'UTR, disrupting the stop codon of an upstream open reading frame (uORF).

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

Objective: The present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis in mucolipidosis from a description of the natural history of five Brazilian cases.

Materials And Methods: We conducted an observational and retrospective study of five patients with clinical and radiological diagnosis of mucolipidosis. Clinical evaluation consisted of information obtained from records and including physical, neurologic, and dysmorphic evaluations.

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with "corner fractures" (SMD-CF). The most striking feature characterizing SMD-CF is irregularly shaped metaphyses giving the appearance of "corner fractures". An array of secondary features, including developmental coxa vara, ovoid vertebral bodies and severe scoliosis, may also be present.

Opioid tapering and weaning protocols in pediatric critical care units: a systematic review.

Objective: Opioid abstinence syndrome is common in the pediatric intensive care environment because sedation is often needed during the children's treatment. There is no specific guideline regarding the management of these patients; and lately, methadone is an important drug for the prevention of abstinence symptoms during the weaning of opioids. This study gathers the available research to establish the initial dose of methadone, the rate of taper and tools to recognize this syndrome and act promptly.

The Latin American and Spanish Survey on Nutrition in Pediatric Intensive Care (ELAN-CIP2).

Objective: To characterize the practices of nutritional support in Latin American and Spanish PICUs.

Design: Survey with a questionnaire sent to Latin American Society of Pediatric Intensive Care members.

Setting: PICUs of participant hospitals.

Overall and Sex-Specific Associations Between Fetal Adversity and Child Development at Age 1 Year: Evidence From Brazil.

A growing body of epigenetic research suggests that in-utero adaptations to environmental changes display important sex-specific variation. We tested this heterogeneous adaptation hypothesis using data from 900 children born at the University Hospital in São Paulo, Brazil, between October 2013 and April 2014. Crude and adjusting linear models were used to quantify the associations between prematurity, being small for gestational age, and children's physical and mental development at 12 months of age.

Laparoscopic sleeve gastrectomy in severely obese adolescents: effects on metabolic profile.

Objective: The objective was to conduct clinical and metabolic evaluations of obese adolescents before and after laparoscopic sleeve gastrectomy (LSG) (up to 24 months).

Subjects And Methods: This was designed as a retrospective, descriptive series of cases study, conducted in Instituto da Criança, São Paulo, Brazil. Analysis of clinical and laboratory data from 22 obese adolescents between 14 and 19 years old submitted to LSG between 2007 and 2014.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dysplasias also include syndromes such as kyphomelic dysplasia (MIM:211350) and mesomelic dysplasia Kozlowski-Reardon (MIM249710), both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI.