Prediction of good neurological outcome after return of circulation following paediatric cardiac arrest: A systematic review and meta-analysis.

Aim: To evaluate the ability of blood-biomarkers, clinical examination, electrophysiology, or neuroimaging, assessed within 14 days from return of circulation to predict good neurological outcome in children following out- or in-hospital cardiac arrest.

Methods: Medline, EMBASE and Cochrane Trials databases were searched (2010-2023). Sensitivity and false positive rates (FPR) for good neurological outcome (defined as either 'no, mild, moderate disability or minimal change from baseline') in paediatric survivors were calculated for each predictor.

Comparative Analysis of Respiratory and Functional Outcomes in Children Post-Fontan Procedure Versus Healthy Peers.

Studies have shown that respiratory muscle training enhances functional capacity and pulmonary function in Fontan patients. However, diaphragm muscle characteristics in Fontan children have not been fully elucidated. The aim of this study was to compare respiratory function, maximal and submaximal functional capacities, and quality of life, as well as to assess diaphragm mobility and thickness, between Fontan patients aged 8 to 12 years and healthy individuals.

Landscape of Invasive Fusariosis in Pediatric Cancer Patients: Results of a Multicenter Observational Study From Latin America.

Invasive fusariosis (IF) is a life-threatening opportunistic infection that affects vulnerable hosts. We conducted a multicenter and multinational retrospective study to characterize the natural history and clinical management of IF in pediatric cancer patients. We selected patients <18 years old who were sequentially hospitalized in 10 Latin American medical centers with a diagnosis of IF between 2002 and 2021.

Do Children with Co-Occurring ADHD and DCD Differ in Motor Performance?

Attention Deficit Hyperactivity Disorder (ADHD) is characterized by inappropriate levels of activity, impulsivity, and inattention. Developmental Coordination Disorder (DCD) is a condition involving challenges in acquiring and executing motor skills. This cross-sectional study aimed to distinguish motor symptoms between ADHD and ADHD/DCD.

Weight stigma after bariatric surgery: A qualitative study with Brazilian women.

Prior studies suggest that one anticipated benefit of bariatric surgery is the achievement of a thinner body, one that is less subject to perceived negative judgment and condemnation by others. However, additional analyses also indicate that stigma may persist even with significant post-surgery weight loss. To investigate the stigma-related perceptions and experiences of women who have undergone bariatric surgery and the resulting body transformations, we conducted individual, semi-structured interviews with thirty Brazilian women (15 aged 33-59 and 15 aged 63-72).

Applications of artificial intelligence in magnetic resonance imaging of primary pediatric cancers: a scoping review and CLAIM score assessment.

Purposes: To review the uses of AI for magnetic resonance (MR) imaging assessment of primary pediatric cancer and identify common literature topics and knowledge gaps. To assess the adherence of the existing literature to the Checklist for Artificial Intelligence in Medical Imaging (CLAIM) guidelines.

Materials And Methods: A scoping literature search using MEDLINE, EMBASE and Cochrane databases was performed, including studies of > 10 subjects with a mean age of < 21 years.

Post-natal prognostic factors in CDH: experience of 11 years in a referral center in Brazil.

Objective: To describe post-natal risk factors associated with death in Newborns (NB) with Congenital Diaphragmatic Hernia (CDH) in a Brazilian reference center.

Methods: In this retrospective cohort study, post-natal clinical factors of all NB diagnosed with CDH were reviewed in an 11-year period (2007‒2018). The primary outcome was death.

Umbilical Cord Mesenchymal Stromal Cells for Steroid-Refractory Acute Graft-versus-Host Disease.

Background: Steroid-refractory acute graft-vs.-host disease (SR-aGVHD) is a complication of allogeneic hematopoietic stem cell transplantation with a dismal prognosis and for which there is no consensus-based second-line therapy. Ruxolitinib is not easily accessible in many countries.

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Background: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. However, populations other than Europeans and North Americans are underrepresented in most databases and there are uncertainties in the genotype-phenotype correlation. We studied Brazilian BS patients, an admixed population with diverse ancestry.

Optimization of Antimicrobial Stewardship Programs Using Therapeutic Drug Monitoring and Pharmacokinetics-Pharmacodynamics Protocols: A Cost-Benefit Review.

Purpose: Antimicrobial stewardship programs are important for reducing antimicrobial resistance because they can readjust antibiotic prescriptions to local guidelines, switch intravenous to oral administration, and reduce hospitalization times. Pharmacokinetics-pharmacodynamics (PK-PD) empirically based prescriptions and therapeutic drug monitoring (TDM) programs are essential for antimicrobial stewardship, but there is a need to fit protocols according to cost benefits. The cost benefits can be demonstrated by reducing toxicity and hospital stay, decreasing the amount of drug used per day, and preventing relapses in infection.

Childhood Hypophosphatasia Associated with a Novel Biallelic Variant at the TNSALP Dimer Interface.

The goal of this study was to perform a clinical and molecular investigation in an eight-year-old female child diagnosed with hypophosphatasia (HPP). The proband and her family were evaluated by medical and dental histories, biochemical analyses, radiographic imaging, and genetic analysis of the tissue-nonspecific alkaline phosphatase () gene. A bioinformatic analysis was performed to predict the structural and functional impact of the point mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) molecule and to define their potential contribution to the phenotype.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Purpose: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects.

Methods: Patients with CBHA in 176 families were genetically examined using exome sequencing.

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.

Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. However, in Brazil, the use of CMA is still limited, due to its high cost and complexity in integrating the results from both the private and public health systems. Although Brazil has one of the world's largest single-payer public healthcare systems, nearly all patients referred for CMA come from the private sector, resulting in only a small number of CMA studies in Brazilian cohorts.

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamilial heterogeneity highlight the complexity of the underlying genetic pathogenesis of these developmental anomalies. Family-based genomics by exome sequencing (ES) and rare variant analyses combined with whole-genome array-based comparative genomic hybridization were implemented to investigate 18 families with limb birth defects.

Illustrated State-of-the-Art Capsules of the ISTH 2022 Congress.

The ISTH London 2022 Congress is the first held (mostly) face-to-face again since the COVID-19 pandemic took the world by surprise in 2020. For 2 years we met virtually, but this year's in-person format will allow the ever-so-important and quintessential creativity and networking to flow again. What a pleasure and joy to be able to see everyone! Importantly, all conference proceedings are also streamed (and available recorded) online for those unable to travel on this occasion.

Radiological patterns of pulmonary fungal infection in pediatric hematology and oncology patients.

Objective: To describe the radiological findings in pediatric patients with hematological or oncological diseases who also have an invasive fungal infection (IFI).

Materials And Methods: This was a retrospective study of all patients with IFI admitted to a pediatric hematology and oncology hospital in Brazil between 2008 and 2014. Clinical and demographic data were collected.

Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis.

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease that is characterized by accumulation of cysteine and formation of crystals within cells of different organs and tissues causing systemic manifestations in childhood that include poor linear growth, ocular involvement, hypothyroidism, and progressive kidney disease. This study was a long-term, prospective open-label evaluation of twice-daily delayed release (DR) cysteamine capsules in cystinosis patients <6 years of age who were naïve to any form of cysteamine treatment. Fifteen treatment-naïve patients <6 years old (mean age 2.

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.

Osteogenesis imperfecta (OI) is a rare low-bone mass skeletal Mendelian disorder characterized by bone fragility leading to bone fractures, with deformities and stunted growth in the more severe phenotypes. Other common, nonskeletal findings include blue sclerae and dentinogenesis imperfecta. It is caused mainly by quantitative or structural defects in type I collagen, although dysregulation of different signaling pathways that play a role in bone morphogenesis has been described to be associated with a small fraction of individuals with OI.

Survival among children and adults treated with granulocyte transfusions: Twenty years' experience at a Brazilian blood center.

Background: It remains controversial whether granulocyte transfusions as a supportive treatment improve survival in patients with febrile neutropenia or granulocyte dysfunctions. We describe survival rates subsequent to granulocyte transfusions in pediatric and adults patients treated at a major blood center in Brazil.

Material And Methods: We retrospectively reviewed the clinical charts of pediatric and adult patients treated with granulocyte transfusions at our institution from January 2000 to October 2019.

Teaching medical students to choose wisely through simulation.

The Choosing Wisely (CW) campaign aims to encourage dialog among physicians and patients about the costs and benefits of medical care. The purpose of the present study was to describe the implementation of the CW campaign among medical students in the pediatrics clerkship using different teaching strategies and to evaluate the students' perception and performance. A prospective, interventionist, open study with a control group was conducted.

Use of contrast-enhanced ultrasound in pediatrics.

Although contrast-enhanced ultrasound has been shown to provide considerable benefits, particularly in pediatric patients, it is still used relatively rarely in Brazil. It has proven to be a safe technique, and adverse effects are rare. In this review, we address the technique and main applications of contrast-enhanced ultrasound in the pediatric population, including the evaluation of focal liver lesions, abdominal trauma, kidney grafts, liver grafts, bowel loops, and vesicoureteral reflux.

Differential Diagnosis Between Venomous (Bothrops jararaca, Serpentes, Viperidae) and "Nonvenomous" (Philodryas olfersii, Serpentes, Dipsadidae) Snakebites: Is It Always Possible?

Bites of "nonvenomous" snakes can sometimes be mistaken for the bites of venomous snakes. As an example of this confusion, this report describes confirmed bites by Philodryas olfersii and Bothrops jararaca. In the first case, a 55-y-old man with a history of controlled hypertension was bitten on his right forearm by P olfersii.

Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.

Noonan syndrome (NS) is a Mendelian phenotype, member of a group of disorders sharing neurocardiofaciocutaneous involvement, known as RASopathies, caused by germline variants in genes coding for components of the RAS/MAPK signaling pathway. Recently, a novel gene of the RAS family (MRAS) was reported to be associated with NS in five children, all of them presenting, among the cardinal features of NS, the same cardiac finding, hypertrophic cardiomyopathy (HCM). We report on a 2-month-old infant boy also presenting this cardiac anomaly that evolved to a fatal outcome after a surgical myectomy.