Pubertal, Auxological, and Adult Height Outcomes in Children Treated for Adrenocortical Tumors: Half a Century Experience.

Introduction: Most children with adrenocortical tumors (ACTs) present with accelerated growth and skeletal maturation at diagnosis, which potentially compromises their adult heights (AHs). Knowledge about growth and pubertal patterns after ACT resection is scarce. This study presents the pubertal and auxological development of patients treated for ACT and followed up at a single pediatric endocrinology service in Brazil.

Dietary intake in individuals with phenylketonuria: an integrative review.

Introduction: the dietary intake of individuals with phenylketonuria (PKU) may vary widely according to different cultural eating habits, lifestyle, access to multidisciplinary team, and metabolic formulas available. Thus, knowing the dietary intake of this population makes it possible to tailor nutritional treatment strategies to impact their health. Objective: to analyze the evidence on the dietary intake of individuals with PKU.

Accuracy of equations for estimating resting energy expenditure in children and adolescents living with phenylketonuria.

Background: Measuring resting energy expenditure (REE) in individuals living with phenylketonuria (PKU) using indirect calorimetry (IC) is unusual in healthcare facilities because it requires specific protocols and expensive equipment. Considering that determining REE is crucial for devising nutritional strategies for the management of PKU, the aim of this study was to identify the predictive equations that provide the best estimates of REE in children and adolescents living with PKU and to propose a predictive equation for determining REE in this population.

Methods: An REE concordance study was conducted with children and adolescents living with PKU.

Adults with early diagnosis of phenylketonuria have higher resting energy expenditure than adults with late diagnosis.

Introduction: To date, there is a gap regarding resting energy expenditure (REE) in adults with phenylketonuria (PKU), whether PKU type and time of diagnosis interfere with REE, and whether the available predictive equations are valid in this population.

Objective: To compare the REE of adult subjects with PKU with healthy subjects and secondarily, examine the REE of adults with PKU according to type and time of diagnosis, and check the agreement of commonly used predictive equations of REE.

Methods: Concordance study with adults with PKU and a comparison group (CG) with healthy adults.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism.

Objectives: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education.

Methods: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III).

Growth hormone effect on body composition of children born small for gestational age: a systematic review.

Objective: The present study aimed to evaluate the effects of GH treatment on the body composition of children born with SGA.

Methods: This study is a systematic review of the literature. CINAHL, Embase; Medline/Pubmed, Scopus and Web of Science were searched from inception to March 2022.

Vocal Characteristics of Children With Short Stature Before and After Growth Hormone Treatment.

Objective: To evaluate the vocal characteristics of children with short stature before and 12 months after growth hormone treatment.

Material And Methods: This analytical, observational cohort study included 23 children (age 5-11 years) diagnosed with short stature. Children in the short stature group (SSG) were matched (1:1) for age and sex with children with normal growth (normal stature group; NSG).

Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil.

Objectives Adequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients. Methods Clinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).

Nutritional and metabolic parameters of children and adolescents with phenylketonuria.

Background And Aims: Considering that phenylalanine-poor diets may be monotonous and compromise the development and nutritional status of children and adolescents with phenylketonuria, the aim of this study was to evaluate the anthropometric and biochemical characteristics of children and adolescents with this condition.

Methods: Retrospective study with anthropometric and biochemical data collection from patients with phenylketonuria in the age group 2-19.9 years.

Health-related quality of life in a cohort of youths with type 1 diabetes.

Objective: Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM.

Material And Methods: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD).

Lysosomal Cathepsin Release Is Required for NLRP3-Inflammasome Activation by in Infected Macrophages.

Lysosomal cathepsin B (CTSB) has been proposed to play a role in the induction of acute inflammation. We hypothesised that the presence of active CTSB in the cytosol is crucial for NLRP3-inflammasome assembly and, consequently, for mature IL-1β generation after mycobacterial infection . Elevated levels of CTSB was observed in the lungs of mice and rabbits following infection with (Mtb) H37Rv as well as in plasma from acute tuberculosis patients.

Metformin exerts antitumor activity via induction of multiple death pathways in tumor cells and activation of a protective immune response.

The antitumor effect of metformin has been demonstrated in several types of cancer; however, the mechanisms involved are incompletely understood. In this study, we showed that metformin acts directly on melanoma cells as well as on the tumor microenvironment, particularly in the context of the immune response. , metformin induces a complex interplay between apoptosis and autophagy in melanoma cells.

TLR4-mediated immunomodulatory properties of the bacterial metalloprotease arazyme in preclinical tumor models.

Despite the recent approval of new agents for metastatic melanoma, its treatment remains challenging. Moreover, few available immunotherapies induce a strong cellular immune response, and selection of the correct immunoadjuvant is crucial for overcoming this obstacle. Here, we studied the immunomodulatory properties of arazyme, a bacterial metalloprotease, which was previously shown to control metastasis in a murine melanoma B16F10-Nex2 model.

Splenic Macrophage Subsets and Their Function during Blood-Borne Infections.

The spleen is one of the major immunological sites for maintaining blood homeostasis. Previous studies showed that heterogeneous splenic macrophage populations contribute in complimentary ways to control blood-borne infections and induce effective immune responses. Marginal metallophilic macrophages (MMMΦs) and marginal zone macrophages (MZMΦs) are cells with great ability to internalize blood-borne pathogens such as virus or bacteria.

Developmental defects of enamel in phenylketonuria patients.

Purpose: The purpose of this study was to determine the prevalence of developmental defects of enamel in patients diagnosed with phenylketonuria (PKU).

Methods: The study group consisted of 24 four- to 24-year-old subjects with PKU. The control group consisted of 24 healthy individuals.

Muscle strength and body composition during the transition phase in patients treated with recombinant GH to final height.

We assessed body composition and muscle strength during the transition phase in 18 growth hormone (GH) deficient males treated with recombinant GH to final height and 18 controls. According to peak-stimulated GH and basal insulin-like growth factor-1 (IGF-1) during the transition phase, patients were subdivided into GH deficient (GHD-TP, n=9) and GH sufficient (GHS-TP, n=9) groups. Assessments included lean and fat body mass and bone mineral density (BMD), all measured by dual-energy X-ray absorptiometry, and dynamic knee muscle strength, assessed by isokinetic dynamometer.

[Assessment of diastolic function in children and adolescents with type 1 diabetes mellitus - are there early signs of diabetic cardiomyopathy?].

Objectives: To evaluate diastolic function (DF) of children and adolescents with type 1 diabetes mellitus (DM1).

Subjects And Methods: Cross-sectional study of 67 otherwise healthy diabetic patients, and a control group (n = 84) in regard to age, sex, body mass index (BMI), Dopplere-chocardiography, and ECG for both groups; and disease duration, HbA1C, microalbuminuria, and serum lipids for DM 1 patients.

Results: Diastolic alterations [(A and E mitral waves, E/A ratio, isovolumic relaxation time (IVRT) and E wave deceleration time (EWDT)] were found in diabetic patients, with higher prevalence among pubertal girls (13-17 years old).

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil.

Objective: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect.

Subjects And Methods: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2.

Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.

Background: Congenital hypothyroidism (CH) is mainly due to developmental abnormalities leading to thyroid dysgenesis (TD). TD encompasses very distinct morphologic subtypes of disease. This study examined and compared the phenotype in TD variants and searched for genetic alterations in sporadic thyroid hypoplasia (TH), the most misdiagnosed form of CH.

[Transient neonatal hypothyroidism due to amiodarone administration during pregnancy--two cases report and review of literature].

Introduction: Amiodarone (AMD) is an antiarrhythmic agent which contains 37% of iodine. It can reach the fetus by transplacental passage and induce transient congenital hypothyroidism (TCH). We report two cases of TCH caused by gestational exposure to AMD, detected by the Newborn Screening Program for Congenital Hypothyroidism of the State of Paraná-Brazil.

[Treatment of childhood adrenocortical tumor].

Adrenocortical tumors (ACT) in children are uncommon. However, the incidence of these tumors in Paraná is 15 times higher than that worldwide. A germline mutation, R337H TP53, present in more than 95% of our patients, is probably the reason for the higher incidence in our state.

[Thyroid cancer in childhood and adolescence--report of 15 cases].

Thyroid tumors are rare in childhood and adolescence. A retrospective analysis was done of fifteen patients (8 female) with thyroid carcinoma attended in the Pediatric Endocrinology Unit of the HC-UFPR, from February 1988 to March 2003. The most frequent initial complaint was an anterior cervical nodule.

[Childhood adrenocortical tumors].

Adrenocortical tumors (ACT) in children are uncommon. However, the incidence of these tumors in Paraná, Brazil, is 15 times higher than that worldwide. We describe the clinical, laboratory and treatment characteristics and outcome of 125 patients treated in a single institution in the State of Paraná.