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Insulin therapy is complex in pediatric patients because they present greater variations in insulin requirements. Traditional insulins have limitations related to time of onset of action and duration of effect, which has led to the development of new insulins, seeking to reduce chronic complications, severe or nocturnal hypoglycemia, and to improve adherence to therapy. This review updates the information on new insulins, their mechanisms of action and the benefits they provide in the treatment of diabetes. Insulin analogues attempt to mimic the physiological secretion of the hormone, including time of action and duration of effect. The most used prandial analogs are the so-called rapid-acting insulins, including Faster Aspartic and the new basal insulins, glargine U300 and degludec, which have a prolonged action of more than 24 hours and therefore require a daily dose. New technologies under development include biosimilar insulins such as the glargine biosimilar, already available in the clinic. New formulations are being developed for the future, as well as novel ways of dispersing them, mimicking the action of pancreatic cells, which will allow a more physiological and personalized management of the disease.
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Medicamentos Biossimilares , Diabetes Mellitus Tipo 1 , Insulinas , Humanos , Criança , Diabetes Mellitus Tipo 1/tratamento farmacológico , Insulina Glargina/uso terapêutico , Insulina/uso terapêuticoRESUMO
Congenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex. CAH is characterized by the overproduction of androgen, along with variable degrees of cortisol and aldosterone deficiency. The age at diagnosis can provide some information about underlying mutations, with those diagnosed at birth/early infancy more likely to have severe enzymatic defects, which may include adrenal insufficiency, sexual development disorders, short stature in adulthood, hirsutism, and a higher risk for metabolic syndrome and infertility. Non-classic CAH, a milder form of CAH, is usually manifested later in life and is a common differential diagnosis of Polycystic Ovary Syndrome and should be actively evaluated during initial studies of clinical or biochemical hyperandrogenism. The main goals of CAH treatment are hormone supplementation for severe cases, controlling adrenal androgen overproduction to minimize long-term side effects, managing fertility and genetic counseling, and optimizing patients' quality of life.
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BACKGROUND: Preterm neonates are at risk for metabolic syndrome later in life. Whether prematurity constitutes an independent risk factor for the development of cardiovascular disease and metabolic syndrome remains controversial. OBJECTIVE: To compare anthropometric measures, cardiometabolic risk factors and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and at term (Term, >37 gestational weeks) and adequate for gestational age (AGA). METHODS: We designed a cross-sectional cohort study, recruiting 120 children (5.0-8.5 years old) from the preterm clinic at Red de Salud UC-Christus and Complejo Asistencial Dr. Sótero del Río, and term children from the community. We excluded children born small for gestational age, based on INTERGROWTH21. Anthropometrics data were classified using WHO reference standards. The homeostasis model assessment insulin resistance (HOMA-IR) index, quantitative insulin sensitivity check index (QUICKI), triglyceride-to-HDL-C ratio (TG/HDL-C) and Pediatric Score Index for Metabolic Syndrome (PsiMS) were calculated. RESULTS: VPT children born AGA had lower HDL cholesterol levels (p = .019) and a higher PsiMS score than those born at term (p = .043). We observed a higher percentage of children with HDL cholesterol ≤40 mg/dl (13.0% vs. 2.3%, p = .026) and BP ≥90th percentile among the VPT children than among the Term children (26.0% vs. 11.6%, p = .031). CONCLUSIONS: At school age, blood pressure was higher, and HDL-C was lower among VPT children born AGA, suggesting a potential metabolic risk; therefore, it is essential to follow this group throughout their lives.
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Resistência à Insulina , Síndrome Metabólica , Criança , Pré-Escolar , HDL-Colesterol , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Lactente Extremamente Prematuro , Recém-Nascido , Síndrome Metabólica/etiologiaRESUMO
INTRODUCTION: Transgender (TG) children and adolescents experience problems in school as well as with family and social relationships that can adversely affect their physical and psychosocial health and impair their quality of life (QoL). This study aimed to assess health-related quality of life (HRQoL) in TG children. METHODS: We performed a cross-sectional study comparing HRQoL in gender non-conforming (Trans) and gender-conforming (CIS) children and adolescents using the Spanish version of KIDSCREEN-52 in 120 Chilean Trans and CIS children (aged 8-18 years) and their parents. All scores were standardized according to the KIDSCREEN manual. RESULTS: Among the 100 questionnaires answered, 38 corresponded to children and adolescents aged 8.4-18 years. Twenty-one of them were TG (71% trans males) and 17 were CIS (76% females). Sixty-two parents answered the questionnaires: 33 from families of TG children (PTrans) and 29 from families of CIS children (PCis). Trans children had lower HRQoL scores in all domains than CIS children. The lowest-scoring domains for TG children were "Moods and Emotions," "Psychological Well-Being" and "Social Acceptance," and the highest-scoring domain was "School Environment." The PTrans group had significantly higher scores than the Trans group for 3 of the 10 domains: "Psychological Well-Being," "Moods and Emotions," and "Parent Relations and Home Life." CONCLUSION: Our results revealed that TG children and adolescents have lower QoL than their CIS counterparts, especially regarding items related to mental health. Furthermore, their parents may underestimate their well-being, confirming the vulnerability of the TG population. This finding underlies the need to perform early assessments of QoL for early detection and intervention in aspects that could deteriorate their quality of life.
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Qualidade de Vida , Pessoas Transgênero , Adolescente , Criança , Chile , Estudos Transversais , Feminino , Humanos , Masculino , Pais/psicologia , Qualidade de Vida/psicologia , Inquéritos e QuestionáriosRESUMO
INTRODUCCIÓN: El principal rol de la vitamina D es la regulación del metabolismo del calcio, cuya principal fuen te es la vitamina D3 que se obtiene principalmente por la acción de la luz ultravioleta (UV) en la piel. OBJETIVO: Evaluar las diferencias estacionales en las concentraciones de 25-hidroxi-vitamina D3 (25OHVitD3), hormona paratiroidea (PTH), fosfatasa alcalina (FA) y calcio en niños en edad esco lar. SUJETOS Y MÉTODO: Se midieron las concentraciones de 25OHVitD3, PTH, FA y calcio en niños de 5 a 8 años, sin suplementación de Vitamina D, reclutados en Santiago de Chile (latitud -33.4372) en distintas estaciones del año. El estatus de VitD fue definido como suficiente con concentraciones de 25OHVitD3 > 20 ng/mL (50 nmol/L), insuficiente 12-20 ng/mL (30-50 nmol/L) y deficiente 20 ng/mL) en verano, lo que disminuyó significativamente en invierno (54,3%, p < 0,0001). CONCLUSIONES: Las concentraciones de 25OHVitD3 disminuyeron en aproximadamente la mitad de los niños durante el invierno, lo que se vio acompañado de un aumento de la PTH y FA, asociado a concentraciones normales de calcio. De acuerdo a nuestros resultados, la suplementación con VitD en niños podría ser necesaria durante otoño e invierno.
INTRODUCTION: The main role of Vitamin D is to regulate calcium metabolism, whose main source is vitamin D3 ob tained mostly from the action of ultraviolet (UV) light on the skin. OBJECTIVE: To evaluate the seaso nal differences in the concentrations of 25-hydroxy-vitamin D3 (25OHVitD3), parathyroid hormone (PTH), alkaline phosphatase (ALP), and calcium in school-age children. SUBJECTS AND METHOD: The concentrations of 25OHVitD3, PTH, ALP, and calcium were measured in children from Santiago, Chile (latitude -33.4372), aged 5 to 8 years, without Vitamin D supplementation, in different seasons of the year. VitD status was defined as sufficient with concentrations of 25OHVitD3 >20 ng/mL (50 nmol/L), insufficient 12-20 ng/mL (30-50 nmol/L) and deficient 20 ng/mL), which decreased significantly in winter to 54.3% (p <0.0001). CONCLUSIONS: In winter, 25OHVitD3 concentrations decreased in approximately half of the children, which was associated with an increase in PTH and ALP, and normal calcium concentrations. According to our results, children may need VitD supple mentation during fall and winter.
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Humanos , Masculino , Feminino , Pré-Escolar , Criança , Hormônio Paratireóideo/sangue , Calcifediol/sangue , Cálcio/sangue , Fosfatase Alcalina/sangue , Estações do Ano , Chile , Estudos TransversaisRESUMO
INTRODUCTION: The main role of Vitamin D is to regulate calcium metabolism, whose main source is vitamin D3 ob tained mostly from the action of ultraviolet (UV) light on the skin. OBJECTIVE: To evaluate the seaso nal differences in the concentrations of 25-hydroxy-vitamin D3 (25OHVitD3), parathyroid hormone (PTH), alkaline phosphatase (ALP), and calcium in school-age children. SUBJECTS AND METHOD: The concentrations of 25OHVitD3, PTH, ALP, and calcium were measured in children from Santiago, Chile (latitude -33.4372), aged 5 to 8 years, without Vitamin D supplementation, in different seasons of the year. VitD status was defined as sufficient with concentrations of 25OHVitD3 >20 ng/mL (50 nmol/L), insufficient 12-20 ng/mL (30-50 nmol/L) and deficient <12 ng/mL (30 nmol/L) based on the recommendations of the expert group of the "Global Consensus for the Prevention and Mana gement of Nutritional Rickets". RESULTS: 133 children participated (89 preterms under or equal to 32 weeks), 41 during summer, 28 in fall, 35 in winter, and 29 in spring. The difference of means between summer and winter was 9.6 ng/mL for 25OHVitD3 (p <0.0001), -11.1 pg/mL for PTH (p <0.0001), and -47.5 IU/mL for ALP (p= 0.01). There were no differences in calcium concentrations. In sum mer, 97.6% of the subjects were classified with sufficiency status (> 20 ng/mL), which decreased significantly in winter to 54.3% (p <0.0001). CONCLUSIONS: In winter, 25OHVitD3 concentrations decreased in approximately half of the children, which was associated with an increase in PTH and ALP, and normal calcium concentrations. According to our results, children may need VitD supple mentation during fall and winter.
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Fosfatase Alcalina/sangue , Calcifediol/sangue , Cálcio/sangue , Hormônio Paratireóideo/sangue , Criança , Pré-Escolar , Chile , Estudos Transversais , Feminino , Humanos , Masculino , Estações do AnoAssuntos
Atenção à Saúde/normas , Identidade de Gênero , Pessoas Transgênero/psicologia , Adolescente , Criança , Feminino , Humanos , MasculinoRESUMO
CONTEXT: ALS deficiency (ACLSD), caused by mutations in IGFALS, is characterized by a mild short stature, low concentrations of IGF-I and IGFBP-3, and a normal growth hormone (GH) stimulation test response. To our knowledge, no larger deletions have been reported. CASE DESCRIPTION: A 17-year-old adolescent male was evaluated due to delayed puberty and short stature. He had a height of 154.4â¯cm (SDS -2.84), a weight of 53.3â¯kg (SDS -1.41), a BMI of 22.4â¯kg/m2 (SDS +0.31), a Tanner 2 pubertal stage with a testicular volume of 10â¯mL, and a bone age of 16â¯years (SDS -1.33). After biochemical evaluation, low IGF-I levels, undetectable IGFBP-3 levels, and a normal response to the GH stimulation test were observed, suggesting GH insensitivity. ACLSD was confirmed by ALS measurement (116â¯ng/mL, SDS -3.19) and genetic analysis of IGFALS. An apparently homozygous missense variant, p. Pro624Leu, was found in exon 2 of the proband; this mutation was observed on one allele of the proband's father but was absent in the mother and siblings. Deletion/duplication analysis by multiplex ligation-dependent probe amplification (MLPA) was consistent with a deletion encompassing a significant part of exon 2 on one allele in the proband and in his mother and siblings. CONCLUSION: This is the first report of a large deletion in a patient with ACLSD. Deletion/duplication analysis should be considered in the genetic study of ACLSD, especially when homozygosity for a pathogenic variant cannot be confirmed by the study of the parents or when no variants are found but ALS concentrations are very low.
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Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/patologia , Proteínas de Transporte/genética , Éxons , Glicoproteínas/genética , Mutação de Sentido Incorreto , Deleção de Sequência , Adolescente , Feminino , Humanos , Masculino , LinhagemAssuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Atenção à Saúde/normas , Pessoas Transgênero/psicologia , Identidade de GêneroRESUMO
CONTEXT: 46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS). OBJECTIVE: To report a gene for 46,XY GD etiology, especially for ETRS. DESIGN: Screening of familial cases of 46,XY GD using whole-exome sequencing and sporadic cases by target gene-panel sequencing. SETTING: Tertiary Referral Center for differences/disorders of sex development (DSD). PATIENTS AND INTERVENTIONS: We selected 87 patients with 46,XY DSD (17 familial cases from 8 unrelated families and 70 sporadic cases); 55 patients had GD (among them, 10 patients from 5 families and 8 sporadic cases had ETRS), and 32 patients had 46,XY DSD of unknown etiology. RESULTS: We identified four heterozygous missense rare variants, classified as pathogenic or likely pathogenic in the Asp-Glu-Ala-His-box (DHX) helicase 37 (DHX37) gene in five families (n = 11 patients) and in six sporadic cases. Two variants were recurrent: p.Arg308Gln (in two families and in three sporadic cases) and p.Arg674Trp (in two families and in two sporadic cases). The variants were specifically associated with ETRS (7/14 index cases; 50%). The frequency of rare, predicted-to-be-deleterious DHX37 variants in this cohort (14%) is significantly higher than that observed in the Genome Aggregation Database (0.4%; P < 0.001). Immunohistochemistry analysis in human testis showed that DHX37 is mainly expressed in germ cells at different stages of testis maturation, in Leydig cells, and rarely in Sertoli cells. CONCLUSION: This strong genetic evidence identifies DHX37 as a player in the complex cascade of male gonadal differentiation and maintenance.
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Transtorno 46,XY do Desenvolvimento Sexual/genética , RNA Helicases/genética , Testículo/anormalidades , Pré-Escolar , Feminino , Heterozigoto , Humanos , Lactente , Masculino , Mutação de Sentido Incorreto , Diferenciação Sexual/genética , Sequenciamento do ExomaRESUMO
BACKGROUND: Aldosterone has been linked with obesity, metabolic syndrome (MetS), pro-inflammatory, and prothrombotic states; however, most studies relate these indicators with primary aldosteronism (PA), excluding non-PA patients. OBJECTIVE: To determine whether aldosterone, renin, or the plasma aldosterone/renin ratio (ARR) are associated with metabolic disorders and inflammatory/vascular biomarkers in a non-PA population. METHODS: We studied 275 patients including adolescents and adults of both genders and measured plasma and urinary aldosterone and determined the plasma renin activity. In all subjects, the presence of MetS was determined according to Adult Treatment Panel III. Renal, vascular, inflammatory, and mineralocorticoid activity biomarkers were evaluated. RESULTS: The ARR correlated with the number of variables of MetS (r = 0.191, P = 0.002), body mass index (BMI; r = 0.136, P = 0.026), systolic blood pressure (r = 0.183, P = 0.002), diastolic blood pressure (r = 0.1917, P = 0.0014), potassium excreted fraction (r = 0.174, P = 0.004), low-density lipoprotein (r = 0.156, P = 0.01), plasminogen activator inhibitor type 1 (r = 0.158, P = 0.009), microalbuminuria (r = 0.136, P = 0.029), and leptin (r = 0.142, P = 0.019). In a linear regression model adjusted by age, BMI, and gender, only the ARR was still significant (r = 0.108, P = 0.05). In a logistic regression analysis, the ARR predicted MetS index (odds ratio (OR) = 1.07 [95% confidence interval (CI) = 1.011-1.131], P= 0.02) even after adjusting for age, BMI, and gender. On the other hand, aldosterone showed no association with MetS or inflammatory markers. CONCLUSION: These results suggest a continuum of cardiometabolic risk beyond the classic PA threshold screening. The ARR could be a more sensitive marker of obesity, MetS, and endothelial damage in non-PA patients than aldosterone or renin alone. Prospective studies are needed to develop future screening cutoff values.
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Aldosterona/metabolismo , Pressão Sanguínea/fisiologia , Hiperaldosteronismo/metabolismo , Hipertensão/etiologia , Síndrome Metabólica/etiologia , Renina/metabolismo , Adulto , Biomarcadores/sangue , Biomarcadores/urina , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Hipertensão/metabolismo , Hipertensão/fisiopatologia , Masculino , Síndrome Metabólica/metabolismo , Prognóstico , Estudos ProspectivosRESUMO
Context: Classical apparent mineralocorticoid excess (AME) is a rare recessive disorder, caused by severe 11ß-hydroxysteroid dehydrogenase type 2 enzyme (11ß-HSD2) deficiency. AME manifests as low-renin pediatric hypertension, hypokalemia and high cortisol/cortisone (F/E) ratio. Objective: To evaluate nonclassic AME (NC-AME) due to partial 11ß-HSD2 insufficiency and its association with hypertension, mineralocorticoid receptor (MR) activation, and inflammatory parameters. Design: Cross-sectional study. Setting: Primary care cohort. Participants: We recruited 127 adolescents and adults. Subjects with secondary hypertension were excluded. We measured clinical, biochemical, renal, vascular, and inflammatory variables. Sequencing of HSD11B2 gene was performed in all subjects. Main Outcome Measure: NC-AME. Results: Serum F/E ratio was positively associated with systolic blood pressure (BP), microalbuminuria, and high-sensitivity C-reactive protein (hs-CRP). Serum cortisone correlated with MR activation parameters even when adjusted for age, body mass index, and sex: lower cortisone with higher potassium excretion (partial r = -0.29, P = 0.002) and with lower plasma renin activity (PRA) (partial r = 0.29, P = 0.001). Consistently, we identified 9 in 127 subjects (7.1%) with high F/E ratios (first quartile) and low cortisone (last quartile), suggestive of NC-AME. These subjects had higher systolic BP, 141.4 ± 25.7 mm Hg vs 127.3 ± 18.1 mm Hg, P = 0.03; lower PRA, 0.36 ± 0.19 ng/L*s vs 0.64 ± 0.47 ng/L*s, P < 0.0001; and greater potassium excretion, microalbuminuria, hs-CRP, and plasminogen activator inhibitor. We only found in 2 out of 9 subjects with NC-AME heterozygous mutations in the HSD11B2 gene. Conclusions: These findings suggest a spectrum of partial 11ß-HSD2 insufficiency in a primary care cohort without the classic phenotype and genotype of AME. NC-AME may represent a phenotype of MR activation and cardiovascular risk, suggesting that these subjects could be treated with MR antagonists.
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11-beta-Hidroxiesteroide Desidrogenase Tipo 2/genética , Síndrome de Excesso Aparente de Minerolocorticoides/diagnóstico , Fenótipo , Adolescente , Adulto , Biomarcadores/sangue , Chile , Cortisona/sangue , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Excesso Aparente de Minerolocorticoides/sangue , Síndrome de Excesso Aparente de Minerolocorticoides/genética , Adulto JovemRESUMO
BACKGROUND: Mounting evidence has associated high sodium (HS) intake with hypertension, cardiovascular disease, and stroke. We investigated whether HS intake modulates the parameters of endothelial damage, inflammation, and oxidative stress. METHODS: We used a cross-sectional study design including 223 Chilean subjects (6.9-65.0 years old). We measured aldosterone, renin activity, cortisol, cortisone, adiponectin, leptin, hsCRP, interleukin 6 (IL-6), tumor necrosis factor-α (TNF-α), plasminogen activator inhibitor type 1 (PAI-1), metalloproteinase (MMP)-9 and MMP-2 activity, and malondialdehyde. Sodium and creatinine were measured in 24-hour urine samples. The subjects were divided by sodium intake, high sodium (HS): ≥150 mEq/day, n = 118, and adequate sodium (AS): <150 mEq/day, n = 105. RESULTS: We observed a positive correlation between urinary sodium excretion and blood pressure (r = 0.1669, P = 0.0124 for systolic and r = 0.2416, P = 0.0003 for diastolic), glycemia (r = 0.2660, P < 0.0001), and triglycerides (r = 0.1604, P = 0.0175) and a highly significant correlation between sodium excretion and PAI-1 (r = 0.2701, P < 0.0001). An inverse correlation was observed between urinary sodium and HDL-cholesterol (r = -0.2093, P = 0.0018) and adiponectin (r = -0.2679, P < 0.0001). In a linear regression model, urinary sodium excretion remained significantly associated with PAI-1 values even after adjusting for age, gender, and BMI. The HS group had higher blood pressure, glycemia, HOMA-IR, atherogenic index of plasma, and PAI-1 values than the group with AS intake. CONCLUSIONS: HS intake is associated with endothelial damage (high PAI-1) and metabolic dysregulation. On the other hand, inflammation and oxidative stress parameters are not modified by sodium intake.
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Doenças Cardiovasculares/etiologia , Endotélio Vascular/metabolismo , Metabolismo Energético , Sódio na Dieta/efeitos adversos , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Glicemia/análise , Pressão Sanguínea , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/fisiopatologia , Criança , Chile , Estudos Transversais , Endotélio Vascular/fisiopatologia , Humanos , Mediadores da Inflamação/sangue , Lipídeos/sangue , Pessoa de Meia-Idade , Estresse Oxidativo , Inibidor 1 de Ativador de Plasminogênio/sangue , Recomendações Nutricionais , Eliminação Renal , Fatores de Risco , Sódio na Dieta/urina , Adulto JovemRESUMO
BACKGROUND: Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). There is scarce information regarding the phenotypes of subjects carrying heterozygous pathogenic variants in HSD11B2 gene. We investigated if serum cortisol/cortisone (F/E) ratio and cortisone are useful for identifying partial 11ßHSD2 deficiency in those heterozygous subjects. METHODS: We studied two patients diagnosed with AME and their families carrying either D223N or R213C mutation. We also evaluated 32 healthy control subjects (13 children and 19 adults) to obtain normal references ranges for all measured variables. Case 1: A boy carrying D223N mutation in HSD11B2 gene and Case 2: A girl carrying R213C mutation. We assessed serum F/E ratio and cortisone by HPLC-MS/MS, aldosterone, plasma-renin-activity(PRA), electrolytes, and HSD11B2 genetic analyses. RESULTS: The normal values (median [interquartile range]) in children for serum F/E and cortisone (µg/dl) were 2.56 [2.21-3.69] and 2.54 [2.35-2.88], and in adults were 4.42 [3.70-4.90] and 2.23 [1.92-2.57], respectively. Case 1 showed a very high serum F/E 28.8 and low cortisone 0.46 µg/dl. His mother and sister were normotensives and heterozygous for D223N mutation with high F/E (13.2 and 6.0, respectively) and low cortisone (2.0 and 2.2, respectively). Case 2 showed a very high serum F/E 175 and suppressed cortisone 0.11 µg/dl. Her parents and sister were heterozygous for the R213C mutation with normal phenotype, but high F/E and low cortisone. Heterozygous subjects showed normal aldosterone, PRA, but lower fractional excretion of sodium and urinary Na/K ratio than controls. CONCLUSION: Serum F/E ratio and cortisone allow to identify partial 11ßHSD2 deficiencies, as occurs in heterozygous subjects, who would be susceptible to develop arterial hypertension.
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11-beta-Hidroxiesteroide Desidrogenase Tipo 2/genética , Cortisona/sangue , Hidrocortisona/sangue , Síndrome de Excesso Aparente de Minerolocorticoides/sangue , Adolescente , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Predisposição Genética para Doença , Hereditariedade , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Excesso Aparente de Minerolocorticoides/diagnóstico , Síndrome de Excesso Aparente de Minerolocorticoides/enzimologia , Síndrome de Excesso Aparente de Minerolocorticoides/genética , Mutação , Natriurese/genética , Linhagem , Fenótipo , Valor Preditivo dos TestesRESUMO
Accumulating evidence suggests that both the intrauterine environment and growth during early life can influence the development of chronic noncommunicable diseases, such as type 2 diabetes mellitus and cardiovascular disease, in adulthood. Here, we review the available human data supporting increased metabolic risk among children born premature or small for gestational age; the adrenal and pubertal modifications that contribute to this risk; metabolic changes that occur during adolescence and early adulthood; and approaches to potentially modify or decrease risk of metabolic disease. The risks associated with delivery at term or preterm are compared for each period of life. Knowledge of these associations is fundamental for the paediatric community to develop preventive strategies early during postnatal life.
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Idade Gestacional , Recém-Nascido Prematuro/metabolismo , Doenças Metabólicas/metabolismo , Nascimento Prematuro/metabolismo , Criança , Feminino , Humanos , Recém-Nascido , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/epidemiologia , Gravidez , Nascimento Prematuro/diagnóstico , Nascimento Prematuro/epidemiologia , Fatores de RiscoRESUMO
BACKGROUND: High sodium intake has been associated with various noncommunicable disease like hypertension, cardiovascular disease, or stroke. To estimate accurately sodium intake is challenging in clinical practice. We investigate the usefulness and limitations of assessing sodium intake simultaneously by dietary assessment and urinary samples in both children and adults. METHODS: We used a cross-sectional study design inviting 298 Chilean subjects (74 children and 222 adults) aged between 9 and 66 years of both genders. Sodium intake by dietary assessment was obtained from Chilean food composition data, based on FAO tables. Sodium and creatinine excretion were measured in 24-hour urine samples, in all participants. RESULTS: Adequate urinary collection was obtained in 81% of children (59/74) and 61% of adults (135/222). The mean sodium intake by dietary assessment was similar to the sodium excretion in 24 hours (3,121±1,153mg/d vs. 3,114±1,353mg/24h, P = nonsignificant) in children but was significantly lower (3,208±1,284mg/d vs. 4,160±1,651mg/24h, P < 0.001) in adults. In both children and adults, sodium intake correlated with urinary sodium excretion (r = 0.456, P < 0.003 and r = 0.390, P < 0.001, respectively). Secondary analyses also suggested that the dietary assessment was more inaccurate in overweight adult subjects. CONCLUSIONS: Our results showed that average sodium intake was higher than recommended in both children and adults (WHO ≤2,000mg/d). The sodium intake estimated by dietary assessment correlated with urinary excretion in all subjects, but in obese adults was more inaccurate than in children. Future studies to validate the appropriate test to assess sodium intake by age and nutritional status are warranted.
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Inquéritos sobre Dietas , Sódio na Dieta/urina , Adolescente , Adulto , Idoso , Peso Corporal , Criança , Chile , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação Nutricional , Adulto JovemRESUMO
Introducción: La talla baja idiopática (TBI) se define como talla ≤ 2 desviaciones estándar (DE) sin causa precisada. El uso de la hormona de crecimiento (GH) en TBI es controvertido y no existen resultados de talla final (TF) en pacientes chilenos. El objetivo de este trabajo es comparar la TF de pacientes con TBI tratados con GH con la predicción de talla adulta al inicio de tratamiento. Pacientes y método: 18/47 pacientes con TBI tratados con GH y que alcanzaron su TF. Se definió TF con edad ósea (EO) ≥ 17 años en hombres y ≥ 15 años en mujeres. Para comparar se consideró la DE de la talla según curvas NCHS al inicio y final de tratamiento. El pronóstico de talla adulta (PTA) se calculó utilizando la EO mediante el método de Bayley-Pinneau. Resultados: La talla inicial fue 133,1 ± 6,8 cm (-2,1 ± 0,85 DE) y el PTA de -1,94 ± 0,86 DE. Los pacientes se trataron desde los 11,6 ± 1,2 años durante un tiempo de 1,56 ± 0,65 años. Al año de tratamiento su talla fue -1,64 ± 0,69 DE y la talla final fue -1,28 ± 0,62 DE (163,76 ± 7,22 cm). Se obtuvo un aumento en la TF de 2,67 ± 5,88 cm (equivalente a 0,67 ± 0,9 DE). Conclusión: Nuestros resultados demuestran que el tratamiento con GH fue eficaz para incrementar TF en pacientes con TBI, con una duración mayor a un año de tratamiento. Hasta donde sabemos este constituye el primer reporte de talla final en pacientes chilenos con TBI tratados con GH.
Introduction: Idiopathic short stature (ISS) is defined as a height of < - 2 standard deviations (SD) from the mean for age. The use of Growth Hormone (GH) in ISS is controversial, and there are not results for adult height (AH) in Chilean patients with ISS treated with GH. The objective of the study is to compare AH in patients treated with GH with the height prediction at beginning of treatment. Patients and Method: AH was considered with bone age ≥ 17 in males and ≥15 in females. The height SD according to the NCHS curves at beginning and ending of treatment were used for the comparison. Height prediction (HP) was calculated by Bayley-Pinneau method. Results: AH was reached by 18/47 patients with ISS treated with GH. Initial height -2.1 ± 0.85 SD (133.1 ± 6.8 cm) and HP -1.94 ± 0.86 SD, and were treated since 11.6 ±1.2 years old. After one year of treatment their height was -1.64 ±0.69 SD, and AH was -1.28 + -0.62 SD (163.76 +-7.22 cm). Conclusion: It is suggested that treatment with GH for ISS is effective to increase AH. Although with wide individual variability, a mean increase of 0.67 ± 0.9 SD (+2.67 cm) was obtained in the AH. This is the first report on Adult Height in Chilean patients.