ABSTRACT
INTRODUCTION: In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil. METHODS: Retrospective cross-sectional study. Clinical data were extracted from the medical records of CF patients. Clinical, laboratory, and genotypic characteristics were described for patients admitted to a tertiary referral center between 2007 and 2021. RESULTS: Fifty-eight (58) patients were included in the study, 53.5% of whom were diagnosed through clinical suspicion. The median age at diagnosis was 4.7 months (IQR: 1.5-14.8 months). Five patients had false-negative results in the newborn screening. Faltering growth was the most frequent clinical manifestation. Bronchiectasis and a history of pneumonia predominated in those older than ten, while thinness, underweight, and electrolyte imbalances were more frequent in children under two. Sequencing of the CFTR gene identified 27 genotypes, with at least one class I-III variant in all patients, and nine variants that are rare, previously undescribed, or have uncertain significance (619delA, T12991, K162Q, 3195del6, 1678del > T, 124del123bp, 3121-3113 A > T). The most frequent alleles were p.Phe508del, p.Gly542*, p.Arg334Trp, and p.Ser549Arg. CONCLUSIONS: Malnutrition and electrolyte imbalances were the most frequent phenotypes for children < 2 years and were associated with genotypes including 2 class I-III variants. Rare and previously undescribed variants were identified. The p.Gly542*, p.Arg334Trp, and p.Ser549Arg alleles were among the most frequent variants in this population.
Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator , Cystic Fibrosis , Genotype , Phenotype , Humans , Cystic Fibrosis/genetics , Cystic Fibrosis/diagnosis , Brazil , Cross-Sectional Studies , Retrospective Studies , Male , Female , Infant , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Infant, Newborn , Neonatal Screening , Child, Preschool , MutationABSTRACT
OBJECTIVE: To associate dietary patterns and food neophobia in low-income preschoolers. DESIGN: This was a cross-sectional study using a semi-structured questionnaire for socio-demographic data, birth conditions and breast-feeding history. Food neophobia was assessed using an adapted version of the Child Food Neophobia Scale. Children's nutritional status was assessed using BMI-for-age and height-for-age Z-scores. Dietary patterns were estimated using a semi-quantitative FFQ through exploratory factor analysis. Multiple linear regression was used to test for an association between food neophobia and dietary pattern adherence. SETTING: Philanthropic childhood education schools in Aracaju, an urban community in northeastern Brazil, between July and December 2017. PARTICIPANTS: Two hundred fourteen children aged 3-6 years and their parents. RESULTS: The percentages of low/medium and high food neophobia among preschoolers were 85·9 % and 11·2 %, respectively. Children with high food neophobia more frequently consumed ultra-processed foods rich in sugars (snacks, filled and unfilled cookies and sweets), as well as protein-rich foods (white meat, cheese and yogurt). Three dietary patterns were identified (traditional, snacks and school snacks). Children with a high level of neophobia had lower adherence to traditional dietary patterns. CONCLUSIONS: A high level of food neophobia among socially vulnerable preschoolers is an eating behaviour related to unhealthy eating and is associated with the poorest diet in typical foods.
Subject(s)
Avoidant Restrictive Food Intake Disorder , Food Preferences , Child , Child, Preschool , Cross-Sectional Studies , Diet , Feeding Behavior , HumansABSTRACT
Desnutrição e atraso cognitivo em crianças são importantes agravos à saúde, consequentes de infecções crônicas por helmintos intestinais. Embora esta relação tenha sido amplamente estudada, encontrou-se poucas descrições sobre os efeitos das diferentes espécies destes parasitos, de parâmetros nutricionais e habilidades cognitivas específicas. Este estudo teve como objetivo avaliar associações entre intensidade de infecção por diferentes espécies de helmintos transmitidos pelo solo, parâmetros nutricionais e habilidades cognitivas de crianças em idade escolar residentes em área endêmica...