DESMISTIFYING SKELETAL DYSPLASIAS: A PRACTICAL APPROACH FOR THE PEDIATRIC ENDOCRINOLOGIST.

Background: Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis is challenging as there are many skeletal dysplasias with similar phenotypes.

Summary: In this review, we describe the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the workup of a child with suspected skeletal dysplasia.

Evidence of changes in the oral language in children born full-term and small for gestational age: a systematic review.

Objective: To perform a systematic review in order to verify the association between full-term birth of small for gestational age (SGA) children and the outcomes in the development of oral language.Data source:Articles from MEDLINE/PubMed, Web of Science, Embase, Lilacs, SciELO and Cochrane Library databases were identified, selected and critically evaluated by two independent reviewers and a judge, blindly, without language restriction and publication period. The PRISMA tool was used, and original studies with a theme involving children born full-term and SGA were included, outcome related to aspects of oral language development, as well as the use of tests, scales and/or specific questionnaires for the investigation, whose methodology was described in full, with children as the target population.

Phonological productive processes in full-term schoolchildren and small for gestational age: a case-control study.

Purpose: To characterize the use of phonological productive processes in a group of full-term children and small for gestational age and compare it with children appropriate for gestational age.

Methods: Observational, analytical, case-control and non-paired study, nested in a cohort with the outcome of phonological disorder. We assessed 36 children according to the predetermined sample calculation, 24 (66.

Congenital Hypothyroidism and the Deleterious Effects on Auditory Function and Language Skills: A Narrative Review.

Congenital hypothyroidism (CH) is an endocrine disease commonly found in newborns and is related to the absence or reduction of thyroid hormones (THs), which are essential for development since intrauterine life. Children with CH can develop hearing problems as THs are crucial for the auditory pathway's development and maturation. Sensory deprivations, especially in hearing disorders at early ages of development, can impair language skills, literacy, and behavioral, cognitive, social, and psychosocial development.

ADHESION TO TREATMENT BY CHILDREN WITH CONGENITAL HYPOTHYROIDISM: KNOWLEDGE OF CAREGIVERS IN BAHIA STATE, BRAZIL.

Objective: To investigate knowledge of caregivers of children with congenital hypothyroidism (CH), followed in a public reference service, as well as their associations with treatment adherence.

Methods: Exploratory, descriptive, cross-sectional study with convenience sample. Medical records of 158 patients diagnosed with congenital hypothyroidism were analyzed, and data were evaluated by applying a previously prepared questionnaire to caregivers from 2014 to 2016.

Cardiometabolic evaluation of small for gestational age children: protective effect of breast milk.

Introduction: human growth is the result of an interaction between genetic, hormonal, nutritional, and environmental factors. It is not yet fully understood what is predominant and decisive in determining an individual's weight and height. Objective: the aim of this study was to evaluate the cardiometabolic profile of exclusively breastfed children born small for gestational age (SGA).

Hypertension and Salt-Restrictive Diet Promotes Low Urinary Iodine Concentration in High-Risk Pregnant Women: Results from a Cross-Sectional Study Conducted After Salt Iodination Reduction in Brazil.

During pregnancy, the demand for daily iodine increases by 50-70% which occurs to reach around 250 μg/day. Limited information is available on the association of high-risk pregnancy (HRP) with urinary iodine concentration (UIC) and variables such as socioeconomic factors. To analyze iodine nutritional status and socioeconomic, demographic and anthropometric characteristics among women with HRP screened at the main referral public health center at Bahia, Brazil, a cross-sectional study was conducted in 241 women with HRP (15-46 years old) in Salvador, Bahia, Brazil.

Effects of type 1 diabetes mellitus on efferent auditory system in children and adolescents.

Aim: To investigate whether type 1 diabetes mellitus (T1DM) could affect the efferent auditory system by analyzing the relationship between the activation of the medial olivocochlear reflex with disease duration, metabolic control and age at time of diagnosis.

Method: A total of 101 children and adolescents were evaluated. They were divided into two groups: 50 with T1DM and 51 without the disease.

Self-reported participation restrictions in normal hearing individuals in thyroid ontogeny: Evidence of subclinical changes.

Purpose: To verify evidence of subclinical alterations through self-reported participation restrictions in normal hearing individuals and congenital hypothyroidism patients.

Methods: An analytical, quantitative, cross-sectional exploratory study with a 1:1 ratio, consisting of a convenience sample of 86 normal hearing individuals with (n = 42) and without (n = 44) congenital hypothyroidism diagnosis. All participants underwent tonal and speech audiometry, immitance and distortion product otoacoustic emissions.

Cochlear dysfunction evidenced by reduction of amplitude of otoacoustic responses in patients with congenital hypothyroidism.

Introduction: The investigation of amplitudes of otoacoustic emissions in congenital hypothyroidism can provide information on cochlear function with more sensibility, when compared to other methods of auditory evaluation.

Aim: To investigate cochlear function through the amplitude of distortion product otoacoustic emissions in individuals with congenital hypothyroidism and to correlate with clinical aspects.

Methods: An exploratory, analytical, cross-sectional study with a convenience sample, composed of 50 individuals with congenital hypothyroidism and a group of 42 individuals without the disease, mean age of 8.

Relationship between bullying and type 1 diabetes mellitus in children and adolescents: a systematic review.

Objective: To carry out a systematic review on the relationship of bullying with type 1 diabetes in children and adolescents.

Methods: Systematic review, according to the PRISMA methodology, in which the databases PubMed, Web of Science, Scopus, Thomson Reuters, Eighteenth Century Collections Online, Begell House Digital Library, LILACS, and SciELO were searched using the terms "bullied", "aggression", "peer victimization", "victimization", "school violence", "diabetes mellitus", "type 1 diabetes mellitus", "autoimmune diabetes", "children" and "adolescents." The authors included original studies, involving bullying associated with type 1 diabetes, with children and adolescents, without language restriction and publication period, with texts available in full.

Breastfeeding in children born small for gestational age and future nutritional and metabolic outcomes: a systematic review.

Objective: To systematically review evidence related to nutritional and cardiometabolic outcomes in children born at term and small for gestational age and the association with breastfeeding.

Source Of Data: Two independent reviewers searched the MEDLINE, LILACS, SciELO, and Embase databases without time or language restrictions. The PRISMA tool was used, and studies that evaluated infants born at term and small for gestational age, breastfed, and with an evaluation of cardiometabolic outcomes were included.

Inflammatory cytokines and non-alcoholic fatty liver disease (NAFLD) in obese children and adolescents.

Introduction: Non-alcoholic fatty liver disease is characterized by the intrahepatic deposition of fat. It is the most prevalent liver disease in the world, affecting obese children and adolescents. Its pathophysiology is not fully understood, although it is often related to insulin resistance.

Influence of socioeconomic and psychological factors in glycemic control in young children with type 1 diabetes mellitus.

Objective: To evaluate the influence of socioeconomic and psychological factors on glycemic control in young children with type 1 diabetes mellitus.

Methods: This was a cross-sectional study assessing prepubertal children with type 1 diabetes mellitus. The authors analyzed the socioeconomic status using the Brazil Economic Classification Criterion (Critério de Classificação Econômica Brasil [CCEB]) and psychological conditions through the Brazilian version of the Problem Areas in Diabetes, associated with glycemic control, measured by glycated hemoglobin (HbA1c).

Mechanisms involved in hearing disorders of thyroid ontogeny: a literature review.

Endocochlear, retrocochlear and/or central origin hearing damage may be related to the absence of appropriate levels of thyroid hormone during morphogenesis and/or auditory system development. Hearing disorders related to the thyroid are not well studied, despite speculation on the pathophysiological mechanisms. The objective of this review was to characterize the main pathophysiological mechanisms of congenital hypothyroidism and to evaluate the relationship with central and peripheral hearing disorders.

Glucose alteration and insulin resistance in asymptomatic obese children and adolescents.

Objective: Obesity is associated with the abnormal glucose metabolism preceding type 2 diabetes mellitus. Thus, further investigation on the prediction of this lethal outcome must be sought. The objective was the profile glycemic assessment of asymptomatic obese children and adolescents from Salvador, Brazil.

Cystic fibrosis-related dyslipidemia.

This article aims to review the physiopathology, diagnosis and treatment of cystic fibrosis-related dyslipidemia (CFD). Bibliographic searches of the Medline and Latin American and Caribbean Health Sciences Literature databases were made (year range, 1987-2007), and the most representative papers on the theme were selected. The characteristic symptoms of CFD are hypertriglyceridemia-with or without hypocholesterolemia-and essential fatty acid deficiency.

Diabetes mellitus in patients with cystic fibrosis.

Cystic fibrosis-related diabetes (CFRD) is the principal extra-pulmonary complication of cystic fibrosis, occurring in 15-30% of adult cystic fibrosis patients. The number of cystic fibrosis patients who develop diabetes is increasing in parallel with increases in life expectancy. The aim of this study was to review the physiopathology, clinical presentation, diagnosis and treatment of CFRD.

[Assessment of metabolic acidosis in critically ill patients: method of Stewart-Fencl-Figge versus the traditional henderson-hasselbalch approach].

Background And Objectives: To review strategies of assessment of metabolic acidosis giving emphasis to the of Stewart-Fencl-Figge method versus the traditional method of Henderson-Hasselbalch.

Contents: Metabolic acidosis is a common issue in critically ill patients, an important cause of myocardial contractility depression and sensible marker of impaired tissue oxygenation. Traditionally, is evaluated by the Henderson-Hasselbalch approach in which an arterial blood sample provides information about the presence and type of acid base disturbance.