Molecular Biology for Diagnosis of Congenital and Neonatal Infections in the Cerebrospinal Fluid of Newborns from a Brazilian Tertiary Hospital.

Unlabelled: The risk of infection transmission from mother to fetus depends on the pathogen. TORCH agents cause some neuroinfections, including Toxoplasmosis, rubella, Cytomegalovirus, herpes simplex 1 and 2, and others (Varicella Zoster, Parvovirus B-19, Epstein-Barr virus, and Zika virus). The consequences can be stillbirth, prematurity, uterine growth restriction, and congenital malformations.

Do nutritional assessment scores have a relationship with transthyretin levels?

Background and aims: nutritional screening tools assess factors like weight loss, BMI, food intake, and disease severity to determine a patient's nutritional risk and needed care. Plasma transthyretin is a practical measurement used to assess nutritional evolution due to its rapid response to food intake. This study examines the relationship between nutritional scores, transthyretin protein levels, and the possibility of death.

Growth charts of Brazilian girls with Turner syndrome without the use of GH or oxandrolone.

Objective: The development of specific growth charts for Turner Syndrome (TS) promotes adequate assessment of growth and weight gain, and earlier diagnosis of comorbidities, and may help to analyze the effectiveness of treatments to promote growth and puberty. The aim of this study was to construct a growth chart with the largest possible series of patients with a cytogenetic diagnosis of TS from a Brazilian reference center.

Methods: This is a longitudinal study, with 259 cases of TS born between 1957 and 2014 and followed between 1975 and 2019, without the use of GH or oxandrolone.

Transthyretin and Nutritional Status in Critically Ill Adults on Parenteral Nutrition: A Prospective Cohort Study.

Background And Aims: Correctly characterizing malnutrition is a challenge. Transthyretin (TTR) rapidly responds to adequate protein intake/infusion, which could be used as a marker to identify malnutrition. Nutritional therapy is used to prevent malnutrition.

Association between serum Vitamin D levels and asthma severity and control in children and adolescents.

Objective: To assess the association of serum Vitamin D (vitD) levels with asthma control and severity in children and adolescents in different seasons of the year.

Method: Longitudinal, prospective study with 7- to 17-year-old children and adolescents diagnosed with asthma. All participants underwent two assessments conducted in opposite seasons of the year which included a clinical assessment, a questionnaire for classification of asthma control (Asthma Control Test), spirometry, and blood collection to measure serum vitD levels.

Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome.

Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS).

Materials And Methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS.

Standard reference and percentiles of maximum respiratory pressures values of healthy children aged 7-10 years.

Objective: This study aims to present standard reference for values of maximum respiratory pressures of healthy schoolchildren, according to gender.

Methods: This is a cross-sectional study involving healthy children aged 7-10 years. Data of body mass and height were evaluated to calculate body mass index (BMI).

Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?

Objective: To determine whether abnormal continuous glucose monitoring (CGM) readings (hypoglycemia/hyperglycemia) can predict the onset of cystic fibrosis-related diabetes (CFRD) and/or clinical impairment (decline in BMI and/or FEV1) in pediatric patients with cystic fibrosis (CF).

Methods: This was a longitudinal prospective cohort study involving CF patients without diabetes at baseline. The mean follow-up period was 3.

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study.

Background: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals.

Objectives: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion.

Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin.

The human chorionic gonadotropin (hCG) stimulation test that evaluates gonadal steroidogenesis is crucial in the assessment of patients with 46,XY disorders of sex development (DSD). This study aimed to determine a testosterone (T) cutoff level that indicates an adequate testicular function using LC-MS/MS after stimulation with recombinant human chorionic gonadotropin (rhCG) in a single dose. Nineteen prepubertal children with 46,XY DSD and normal T secretion were evaluated.

Risk factors for recurrent wheezing in preterm infants who received prophylaxis with palivizumab.

Objective: To determine the prevalence of recurrent wheezing (RW) in preterm infants who received prophylaxis against severe infection with respiratory syncytial virus (RSV) and to identify genetic susceptibility (atopy or asthma) and risk factors for RW.

Methods: This was a cross-sectional study involving preterm infants who received prophylaxis with palivizumab at a referral center in Brazil during the first two years of age. A structured questionnaire was administered in a face-to-face interview with parents or legal guardians.

Differences between patients who achieved asthma control and those who remain uncontrolled after standardized severe asthma care strategy.

Objective: To assess clinical, functional, and inflammatory patterns of children and adolescents with severe uncontrolled asthma, and investigate the differences between patients who achieved asthma control and those who remain uncontrolled after standardized asthma care strategy.

Methods: Screening all children and adolescents with asthma from the Pediatric Pulmonology Outpatient Clinic of Unicamp, Brazil, and included those with severe uncontrolled asthma according to GINA guidelines criteria. Patients were assessed at baseline and after by demographic and medication data, questionnaires (Asthma Control Test and Pediatric Asthma Quality of Life Questionnaire), Six-Minute Walk Test, skin prick test, spirometry, induced sputum, and blood collection (total immunoglobulin E and eosinophil count).

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development.

Objective: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (rhCG) stimulus in children with 46,XY disorders of sex development (DSD).

Are there differences in the physical activity level and functional capacity among children and adolescents with and without asthma?

Objective: The aim of this study was to analyze the physical activity level, using two tools, and the functional capacity of children and adolescents with asthma and with different levels of disease control, and to compare them to those of individuals without asthma.

Methods: Cross-sectional study with children and adolescents with (asthma group, AG) and without asthma (WAG), aged from 7 to 17 years. All participants performed the six-minute walk test (6MWT), the Glittre Activities of Daily Living test (Glittre-ADL), the International Physical Activity Questionnaire (IPAQ), and daily record of steps on a pedometer.

Assessment of asthma control among different measures and evaluation of functional exercise capacity in children and adolescents with asthma.

Objective To assess the agreement among asthma control measures and functional exercise capacity in children and adolescents with uncontrolled and controlled asthma. Methods Children and adolescents with asthma from 7-17 years old were selected, and they were attended in the "Pediatric Pulmonology Outpatient Clinic of State University of Campinas", in Brazil. All patients had asthma control level assessed by Global Initiative for Asthma questionnaire (GINAq), Asthma Control Test (ACT), spirometry and six-minute-walk-test (6MWT).

A group of Brazilian Turner syndrome patients: Better quality of life than the control group.

Current literature presents no consensus regarding which aspects influence health-related quality of life (HRQoL) of women with Turner syndrome (TS). The objective of the present study was to compare HRQoL in the TS and control group, using components and domains of the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36). Observational, descriptive, and cross-sectional study with 44 women with TS aged between 18 and 30 years (TS group) and 44 healthy women of the same age which were sisters, relatives, or friends of the TS group (control group).

Acute-subacute paracoccidioidomycosis: A paediatric cohort of 141 patients, exploring clinical characteristics, laboratorial analysis and developing a non-survival predictor.

The acute-subacute form of paracoccidioidomycosis (PCM) is a severe systemic mycosis that affects children and adolescents from endemic regions, leading to generalised lymphadenopathy, fever, weight loss, anaemia, eosinophilia, hypoalbuminemia and hypergammaglobulinemia. The objective of this study is to describe the clinical and laboratorial characteristics of acute-subacute PCM, to determine a mortality risk factor and to propose a test for non-survival hazard related to the disease. Children and adolescents diagnosed with PCM, under 15 years were included in the study.

Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references.

Our aim was to evaluate the cost-effectiveness of a minimal lymphocyte subset quantification (LSQ) by flow cytometry as the first screening in children with clinically suspected primary immunodeficiency (PID). Two hundred sixty-eight Brazilian patients (0-21 years old) were studied. They were divided by clinical and phenotypical features into those fulfilling criteria for PID (PID phenotype) according to the 2017 International Union of Immunological Societies (IUIS) classification and those not fulfilling these criteria (non-PID phenotype).

Resilience and mental health problems in children and adolescents who have been victims of violence.

Objective: To understand the process of resilience (social support and resources of the family environment) and the chance of mental health problems in children and adolescents (9-16 years) who have been victims of domestic violence, assisted in specialized services (Group 1 - G1) and in school services without reports of domestic violence (Group 2 - G2).

Methods: Various semi-structured instruments were applied to the pairs (guardian and child or adolescent): the Strengths and Difficulties Questionnaire (SDQ); the Resiliency Scales for Children and Adolescents (RSCA), including Scale I (SI - sense of control), Scale II (SII - relationship skills) and Scale III (SIII - emotional reactivity); the Social Support Appraisals; the Home Environment Resources Scale and a questionnaire created by the authors to characterize the population.

Results: There was no difference in the prevalence of resilience between G1 and G2.

Lung disease and vitamin D levels in cystic fibrosis infants and preschoolers.

Introduction: Vitamin D acts on the immune system and lung response. Patients with cystic fibrosis (CF) may be deficient in this vitamin. The aims of the study were to evaluate vitamin D levels and severity of lung disease in infants and preschoolers diagnosed with CF, and to compare them to a group of children without pancreatic insufficiency (PI).

Factors affecting diagnosis of primary pediatric central nervous system neoplasias in a developing country.

Purpose: Understand the variables that could interfere with diagnosis and prompt treatment in CNS childhood cancer in Brazil, a developing country with continental dimensions.

Methods: From 2005 to 2010, we retrospectively evaluated factors, which could represent a negative influence on the time period elapsing from the onset of symptoms until the diagnosis of the central nervous system (CNS) neoplasia in children and adolescents attended in our service.

Results: Two hundred seventeen records were analyzed retrospectively.

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia.

Background: Testicular adrenal rest tumors (TART) can cause infertility in congenital adrenal hyperplasia (CAH) males.

Aims: To determine TART prevalence in patients with CAH due to 21-hydroxylase deficiency (21-OHD) and evaluate possible factors associated with its development.

Methods: This is a descriptive and analytical cross-sectional study evaluating males with the classical form of 21-OHD through testicular ultrasonography and serum inhibin B dosages.

Recurrent wheezing in preterm infants: Prevalence and risk factors.

Objective: To evaluate the prevalence and risk factors associated with progression to recurrent wheezing in preterm infants.

Methods: The cross-sectional study was carried out in 2014 and 2015 and analyzed preterm infants born between 2011 and 2012. The search for these children was performed in a university maternity hospital and a Special Immunobiological Reference Center.

Hypercholesterolemia and hypertriglyceridemia as risk factors of liver dysfunction in children with inflammation receiving total parenteral nutrition.

Background And Aims: Hepatic dysfunction, due to parenteral nutrition, may become severe and lead to cirrhosis and hepatic failure, especially in newborns and infants. This study aimed to evaluate the association between the exclusive use of total parenteral nutrition (TPN) and changes in the hepatic profile, and to investigate the relationship between age, hypertriglyceridemia, and hypercholesterolemia, and the occurrence of laboratory liver dysfunction.

Methods: A descriptive and historical cohort study was conducted, evaluating 195 pediatric patients (age: 1 month to 19 years) who received TPN.