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BACKGROUND: The increase in childhood obesity rates represents a serious public health problem. The project "EpPOI: Education to prevent childhood obesity" is aimed at a multidisciplinary approach to raise awareness of the importance of preventing childhood obesity through lifestyle education. METHODS: Two actions by experts were performed: an intervention with children in schools and a meeting for both parents and school staff. Participants completed a questionnaire structured as a Likert scale. RESULTS: The sample size was 96 people, and awareness of the childhood obesity problem as well as the need for obesity prevention was high among respondents. We also found great interest among participants in having more information on pediatric nutrition and physical activity, with a positive correlation with age. Furthermore, the multivariate regression model configured interest in having more information on nutrition and physical activity as an independent and statistically significant predictor of awareness of childhood obesity as a current issue. CONCLUSIONS: The results highlight the need to act on childhood obesity through lifestyle prevention strategies early in life.
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Exercício Físico , Obesidade Infantil , Humanos , Obesidade Infantil/prevenção & controle , Obesidade Infantil/epidemiologia , Feminino , Masculino , Criança , Inquéritos e Questionários , Conhecimentos, Atitudes e Prática em Saúde , Educação em Saúde/métodos , Estilo de Vida , Adulto , Adolescente , Pais , Instituições AcadêmicasRESUMO
Disorders/differences of sex development (DSDs) are defined as broad, heterogenous groups of congenital conditions characterized by atypical development of genetic, gonadal, or phenotypic sex accompanied by abnormal development of internal and/or external genitalia. NR5A1 gene mutation is one of the principal genetic alterations implicated in causing DSD. This review outlines the role of NR5A1 gene during the process of gonadal development in humans, provides an overview of the molecular and functional characteristics of NR5A1 gene, and discusses potential clinical phenotypes and additional organ diseases due to NR5A1 mutations. NR5A1 mutations were analyzed in patients with 46,XY DSD and 46,XX DSD both during the neonatal and pubertal periods. Loss of function of the NR5A1 gene causes several different phenotypes, including some associated with disease in additional organs. Clinical phenotypes may vary, even among patients carrying the same NR5A1 variant, indicating that there is no specific genotype-phenotype correlation. Genetic tests are crucial diagnostic tools that should be used early in the diagnostic pathway, as early as the neonatal period, when gonadal dysgenesis is the main manifestation of NR5A1 mutation. NR5A1 gene mutations could be mainly associated with amenorrhea, ovarian failure, hypogonadism, and infertility during puberty. Fertility preservation techniques should be considered as early as possible.
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Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.
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Estudos de Associação Genética , Síndrome de Prader-Willi , Síndrome de Prader-Willi/genética , Humanos , Doenças do Sistema Endócrino/genética , FenótipoRESUMO
Adiposity rebound (AR) refers to the second rise of the body mass index (BMI) curve that usually occurs between six and eight years of age. AR timing has a significant impact on patients' health: early AR (EAR), usually before the age of five, is considered to be the earliest indicator of obesity and its related health conditions later in life. Many studies have evaluated factors that can be predictors of EAR, and identified low birth weight and gestational weight gain as novel predictors of EAR, highlighting the role of the intrauterine environment in the kinetics of adiposity. Furthermore, children with breastfeeding longer than 4 months have been found to be less likely to have an EAR, whereas children born to advanced-age mothers, high maternal BMI had a higher risk of having an EAR. Some differences were found in the timing of AR in boys and girls, with girls being more likely to have EAR. The aim of this review is to answer the following three questions: 1) Which are the prenatal and perinatal factors associated with increased risk of EAR? Is gender one of these? 2) Which are the outcomes of EAR in childhood and in adulthood? 3) Which measures can be taken in order to prevent premature AR?
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Adiposidade , Índice de Massa Corporal , Humanos , Adiposidade/fisiologia , Feminino , Criança , Masculino , Obesidade Infantil/epidemiologia , Fatores de Risco , Pré-Escolar , Gravidez , Recém-NascidoRESUMO
Childhood obesity is rapidly increasing worldwide and there is an urgent need to implement treatment and prevention programs. Over the last decade, in addition to increasing rates of childhood obesity, we have also observed rapid technological and digital development. The Covid-19 pandemic has largely contributed to both expansions but has also allowed an opening towards a broader vision of medicine, through new therapeutic opportunities such as mobile healthcare. The digital and technological delivery of obesity prevention and treatment programs can represent an innovative tool to support children and families to overcome some limitations and barriers such as the accessibility of programs that prevent them from adopting healthy lifestyle changes. This review aimed to summarize the impact of different digital interventions for children and adolescent affected by obesity.
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Critical illness-related corticosteroid insufficiency or CIRCI is characterized by acute and life-threatening disfunction of hypothalamic-pituitary-adrenal (HPA) axis observed among intensive care unit- staying patients.It is associated with increased circulating levels of biological markers of inflammation and coagulation, morbidity, length of ICU stay, and mortality.Several mechanisms are involved in CIRCI pathogenesis: reduced CRH-stimulated ACTH release, peripheral resistance to glucocorticoids, altered cortisol synthesis, impaired cortisol-free fraction and bioavailability.Diagnostic and therapeutic management of this condition in children is still debated, probably because of the lack of agreement among intensive care specialists and endocrinologists regarding diagnostic criteria and prevalence of CIRCI in paediatric age.In the present narrative review, we focused on definition of CIRCI in paediatric age and we advise on how to diagnose and treat this poorly understood condition, based on current literature data.
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Insuficiência Adrenal , Humanos , Criança , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/tratamento farmacológico , Estado Terminal/terapia , Corticosteroides/uso terapêutico , Hidrocortisona/uso terapêutico , Glucocorticoides/uso terapêuticoRESUMO
BACKGROUND: Possible therapeutic failure of pediatric obesity is influenced by the high dropout rate. The aim of this study was to evaluate the rate of dropout and the rate of weight loss over the 24 months of follow-up. METHODS: The retrospective, single-center study, involved 489 patients followed for obesity in the period 2016-2020. Patients' auxological data and blood samples were collected during the first (V1) and last visit (V2). Dropout was defined as a follow-up of less than 12 months and/or including less than one visit every 6 months. Patients were divided into two groups and compared: Group A of dropout (297 patients) and Group B of non-dropout (192 patients). RESULTS: In the follow-up period, which had a mean duration of 24 months, the dropout rate was 60.7%. In Group A, the percentage of patients with BMI ≥ 3 SD at V2 was significantly higher than that in Group B. In Group B, the percentage of patients with pathological HOMA-IR and with fasting glucose >100 mg/dL was higher than group A. The probability of dropout was positively associated with pubertal stage and negatively with impaired fasting glycemia and pathological insulinemia at V1. CONCLUSION: The study demonstrated a high dropout rate during follow-up, mainly among adolescents and patients with no glucometabolic alterations.
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Osteogenesis imperfecta/Ehlers−Danlos (OI/EDS) overlap syndrome is a recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, that are involved in α-1 and α-2 chains of type 1 collagen synthesis. The clinical spectrum of this new clinical entity is broad: patients could present a mixed phenotype that includes features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, short stature) and Ehlers−Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility). We reported the case of a young Caucasian girl with severe short stature and a previous history of neuroblastoma, who displayed the compound phenotype of OI/EDS. Next generation sequencing was applied to the proband and her parent genome. Our patient presented a de novo heterozygous COL1A1 variant (c.3235G>A, p.Gly1079Ser), whose presence might be indicative of diagnosis of OI/EDS overlap syndrome. We also hypothesize that the association with the previous history of neuroblastoma could be influenced by the presence of COL1A1 mutation, whose role has been already described in the behavior and progression of some cancers.
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Síndrome de Ehlers-Danlos , Neuroblastoma , Osteogênese Imperfeita , Cadeia alfa 1 do Colágeno Tipo I , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Feminino , Heterozigoto , Humanos , Neuroblastoma/genética , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/genéticaRESUMO
PURPOSE: The increased incidence of childhood obesity and related non-alcoholic fatty liver disease (NAFLD) has determined the need to identify a non-invasive technique to diagnose and monitor NAFLD. Two-dimensional shear wave elastography (2D-SWE) has emerged as a reliable, non-invasive, tool to evaluate liver tissue elasticity in clinical practice. Aims of this study were to longitudinally evaluate 2D-SWE changes in relation to weight loss, metabolic profile, and body composition modifications and to investigate the correlation between 2D-SWE variation and clinical and biochemical indices of cardio-metabolic risk in obese children. METHODS: Thirty-three children underwent anthropometric, bioimpedenziometric, fasting biochemical assessments, ultrasound, and SWE evaluations, at baseline (V0) and after a 12-months of follow-up (V12). Diet and physical activity programs have been prescribed to all patients according to European Society of Endocrinology and Pediatric Endocrine Society recommendations. Adherence to the prescribed diet and physical activity program was checked every 3 months during the 12-month of follow-up. Variation of all parameters was evaluated in intragroup and intergroup comparison analysis in children, who had not lost weight (Group A) and those who had lost weight (Group B) at V12. Study population was also analyzed dividing it into two groups with respect to 2D-SWE liver elasticity value ≤10.6 kPa or >10.6 kPa. RESULTS: A significant reduction of mean 2D-SWE value was demonstrated both in the entire cohort (p = 0.002) and in Group B children (p = 0.004). Intragroup comparison analysis, between V0 and V12, documented a significant decrease of 2D-SWE and BMI SDS and a significant improvement of metabolic profile (decrease of HOMA-IR, HbA1c, oral glucose tolerance test 120-min glucose and insulin, triglycerides, triglycerides/HDL-ratio, transaminases, uric acid, and increase of Matsuda-index and HDL) in children of Group B but not in those of Group A. Intergroup comparison analysis showed significant differences for BMI, BMI SDS, transaminases and several parameters of glucose and lipid metabolism, between Group A and Group B children after 12-months of follow-up. No significant differences were documented with regard to clinical and biochemical variables by dividing the population in accordance with the 2D-SWE cut-off of 10.6 kPa. CONCLUSIONS: These results suggested a relation between weight loss, metabolic profile improvement and 2D-SWE value reduction. SWE could play a significant role in the non-invasive assessment of NAFLD in children and adolescents with obesity.
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Técnicas de Imagem por Elasticidade , Obesidade Infantil , Adolescente , Criança , Técnicas de Imagem por Elasticidade/métodos , Humanos , Fígado/diagnóstico por imagem , Fígado/patologia , Cirrose Hepática/patologia , Obesidade Infantil/diagnóstico por imagem , Projetos Piloto , Estudos ProspectivosRESUMO
OBJECTIVE: Metabolic syndrome is a cluster of cardio-metabolic risk factors associated with an increased risk of cardiovascular disease and type 2 diabetes. In the last two decades, several definitions of metabolic syndrome have been proposed for the pediatric population; all of them agree on the defining components but differ in the suggested criteria for diagnosis. This review aims to analyze the current diagnostic criteria of metabolic syndrome in pediatrics with reference to their feasibility and reliability in clinical practice. METHODS: The systematic research was conducted from January 2003 to June 2020 through MEDLINE via PubMed, Cochrane Library and EMBASE databases. RESULTS: After the selection phase, a total of 15 studies (182 screened) met the inclusion criteria and are reported in the present review. Twelve studies were cross-sectional, two were longitudinal and one was a consensus report. The sample population consisted of multiethnic group or single ethnic group, including Turkish, European, Asian and Hispanic subjects. CONCLUSIONS: To date, there is not a univocal, internationally accepted pediatric definition of metabolic syndrome, which guarantees a high sensitivity and stability of the diagnosis. The definition proposed by IDF results the most straightforward and easy to use in clinical practice, having the unquestionable advantage of requiring measurements quickly accessible in clinical practice, without the adoption of multiple reference tables. Further research is needed to validate a new version of such definition which includes the diagnostic cut-off points recently suggested by published guidelines.
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Técnicas de Diagnóstico Endócrino , Síndrome Metabólica/diagnóstico , Pediatria , Adolescente , Idade de Início , Criança , Pré-Escolar , Técnicas de Diagnóstico Endócrino/normas , Técnicas de Diagnóstico Endócrino/estatística & dados numéricos , Estudos de Viabilidade , Feminino , Humanos , Masculino , Síndrome Metabólica/epidemiologia , Pediatria/métodos , Pediatria/normas , Padrões de Prática Médica/normas , Padrões de Prática Médica/estatística & dados numéricos , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Children with nonclassical congenital adrenal hyperplasia (NCCAH) often present increased growth velocity secondary to elevation of adrenal androgens that accelerates bone maturation and might compromise adult height (AH). OBJECTIVE: The aim of the study was to analyze prognostic factors affecting growth trajectory (GT) and AH in children with NCCAH. METHODS: The study was a retrospective, multicentric study. The study population consisted of 192 children with a confirmed molecular diagnosis of NCCAH, followed by pediatric endocrinology centers from diagnosis up to AH. Clinical records were collected and analyzed. AH (standard deviation score; SDS), pubertal growth (PG) (cm), GT from diagnosis to AH (SDS), and AH adjusted to target height (TH) (AH-TH SDS) were evaluated as outcome indicators using stepwise linear regression models. RESULTS: The stepwise linear regression analysis showed that AH and AH-TH were significantly related to chronological age (CA) (p = 0.008 and 0.016), bone age (BA)/CA ratio (p = 0.004 and 0.001), height (H) (p < 0.001 for both parameters) at NCCAH diagnosis, and TH (p = 0.013 and <0.001). PG was higher in males than in females (22.59 ± 5.74 vs. 20.72 ± 17.4 cm, p = 0.002), as physiologically observed, and was positively related to height (p = 0.027), negatively to BMI (p = 0.001) and BA/CA ratio (p = 0.001) at NCCAH diagnosis. Gender, genotype, biochemical data, and hydrocortisone treatment did not significantly impair height outcomes of these NCCAH children. CONCLUSIONS: The results of this study suggest that AH and GT of NCCAH patients are mainly affected by the severity of phenotype (CA, BA/CA ratio, and H) at the time of diagnosis.
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Hiperplasia Suprarrenal Congênita/fisiopatologia , Estatura , Modelos Biológicos , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Hiperplasia Suprarrenal Congênita/patologia , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Hidrocortisona/administração & dosagem , Masculino , Estudos RetrospectivosRESUMO
Background: About 85-90% of children born small for gestational age (SGA) experience a catch-up growth that occurs mostly during the first year of life and results in a full stature recovery by the age of 2. Objective: To investigate the relation between bone maturation (BM) and catch-up growth during the first year of life in SGA infants. Method: Newborns whose weight and/or length was <-2 SD for gestational age were classified as SGA (group A). The study included a group of 32 SGA, 21 of which are full term [37-41 gestation weeks (GW), subgroup A1] and 11 preterm (30-36 GW, subgroup A2). Control group (B) consisted of 19 full-term and adequate-for-gestational-age (AGA) newborns. All the participants were born in the same hospital and period (January-December 2017). Chromosomal disorders, congenital defects, and maternal chronic diseases were criteria of exclusion. The study population underwent longitudinal evaluation of growth parameters and BM at 0, 3, 6, and 12 months. Assessment of BM was performed by an ultrasonographic (US) study of Béclard's nucleus (NB) (<3 mm at birth, meaning intrauterine delay of BM). Results: Significantly higher height velocity (HV) was observed in subgroup A2 vs. A1 (32.4 ± 8.0 vs. 25.6 ± 2.9 cm, p = 0.01); nevertheless, more subjects in subgroup A2 had height <-2 SD at year 1 than had subgroup A1 (27.3 vs. 0%, p = 0.01). Intrauterine delay of BM was more common in group A vs. B (59.4 vs. 21.2%, p = 0.0078) and in subgroup A2 vs. A1 (90.9 vs. 42.9%, p = 0.0086). In group A, HV over the first year of life negatively correlates with NB diameter assessed at birth (r = -0.6, p < 0.001) but positively correlates with NB growth (r = 0.52, p < 0.01). Moreover, SGA babies with intrauterine delay of BM showed higher HV and better height gain at 12 months' evaluation than did SGA with adequate BM (29.75 ± 3.1 vs. 23.8 ± 2.7 cm, p = 0.003). Conclusion: Neonatal BM should be regarded as a predictive factor of SGA height gain during the first year of life. US evaluation of NB is a useful noninvasive technique to identify intrauterine delay of BM, which positively correlates with early postnatal catch-up growth of SGA infants.
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Estatura , Peso Corporal , Desenvolvimento Ósseo , Recém-Nascido de Baixo Peso/crescimento & desenvolvimento , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Estudos ProspectivosRESUMO
Background: Childhood obesity is related to a wide spectrum of cardiovascular and metabolic comorbidities. Objectives: (1) To identify precocious, preclinical, cardiovascular sonographic modifications, in a cohort of overweight (OW) and obese (OB) children and adolescents compared to lean controls; (2) to investigate the association between clinical and metabolic variables and cardiovascular sonographic parameters; (3) to evaluate their relation with two different phenotypes of obesity: metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO). Materials and Methods: Fifty-nine OW and OB children and adolescents (9.8 ± 2.9 years) and 20 matched lean controls underwent anthropometric, biochemical, echocardiography assessment, and sonographic evaluation of carotid artery and ascending aorta (AA). OW and OB subjects were divided in MHO and MUO, according to the Camhi et al. definition. Results: OW and OB children showed significantly higher left ventricular (LV) dimensions and mass, carotid artery intima-media thickness (CIMT), carotid stiffness [ß-index, pulse wave velocity (PWV)], significantly lower mitral peak early (E) and late (A) velocity ratio (E/A ratio), and significantly impaired global longitudinal strain (GLS) compared to controls. BMI SD and HOMA-IR were positively significantly related to LV dimensions, LA volume and epicardial adipose tissue (EAT), and negative to E/A ratio. Waist circumference (WC) was positively correlated to LV dimensions, LA volume, CIMT, PWV, AA diameter, and EAT. Furthermore, WC was a strong predictor of LV dimensions, LA volume and strain, AA stiffness and diameter; BMI SD was significantly associated with EAT, LVM index, and E/A ratio; HOMA-IR and triglycerides were significant predictors of GLS. MUO patients showed higher BMI SD (p = 0.02), WC (p = 0.001), WHtR (p = 0.001), HOMA-IR (p = 0.004), triglycerides (p = 0.01), SBP (p = 0.001), as well as LV dimensions, EAT (p = 0.03), CIMT (p = 0.01), AA diameter (p = 0.02), ß-index (p = 0.03) and PWV (p = 0.002), AA stiffness (p = 0.006), and significantly impaired GLS (p = 0.042) compared to MHO. Conclusions: Severity of overweight, abdominal obesity, insulin resistance, and MUO phenotype negatively affect cardiovascular remodeling and subclinical myocardial dysfunction in OW and OB children. MUO phenotype is likely to increase the risk of developing cardiometabolic complications since the pediatric age. Distinction between MHO and MUO phenotypes might be useful in planning a personalized follow-up approach in obese children.