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1.
Artículo en Inglés | MEDLINE | ID: mdl-36554686

RESUMEN

Most children born small for gestational age (SGA) have rapid postnatal growth. Despite its positive aspects, catch-up growth may affect the level of adipose tissue in the pre-pubertal and pubertal periods and therefore affect the age of puberty. The aim of this study was to determine the associations between size at birth, catch-up growth in infancy, BMI in peripubertal period, age at menarche, and the parameters of adolescent growth spurt of body height in girls born SGA. For 297 girls (22.6% SGA; 77.4% appropriate for gestational age (AGA)) complete body weight and height measurements and age at menarche were obtained. Adolescent growth spurt parameters were estimated using the JPA2 model (AUXAL SSI 3.1). Calculations were made in the Statistica 13 program using the Kruskal-Wallis and Kaplan-Meier tests. Girls born SGA with catch-up had the highest BMIs at the age of 8 years (H = 94.22, p < 0.001) and at menarche (H = 58.21, p < 0.001), experienced menarche earliest (H = 21.77, p < 0.001), same as the onset (H = 6.54, p = 0.012) and peak height velocity (H = 11.71, p = 0.003) of their adolescent growth spurt compared to SGA girls without catch-up and AGA girls. In SGA girls, catch-up growth has far-reaching consequences such as increased risk of fat accumulation and a rapid transition to puberty.


Asunto(s)
Recién Nacido Pequeño para la Edad Gestacional , Menarquia , Niño , Recién Nacido , Femenino , Adolescente , Humanos , Estudios Longitudinales , Edad Gestacional , Pubertad , Retardo del Crecimiento Fetal , Aumento de Peso , Factores de Riesgo , Estatura
2.
Genes (Basel) ; 13(5)2022 05 11.
Artículo en Inglés | MEDLINE | ID: mdl-35627241

RESUMEN

The aim of this review was to describe all of the mutations in the growth hormone receptor (GHR) and insulin-like growth factor-1 receptor (IGF1R) genes that have been discovered so far, and their possible impact on final body height, as well as their relationship with catch-up growth in children born small for gestational age (SGA). Mutations in the GHR gene were found to cause a body height below -2 SD, from the mean for sex and age, whereas the mutations in the IGF1R gene were associated with low body height and intrauterine growth restriction (IUGR), and with being born SGA. After birth, when the child's growth is not restricted by the intrauterine environment, the infant may develop its developmental potential and experience catch-up growth, which makes it possible to catch up with peers born appropriate for gestational age (AGA). Despite this, catch-up growth does not apply to all, but only to about 85% of SGA children, and its mechanism is unknown. It is possible that SGA children who did not experience catch-up growth are carriers of mutations in the GHR and/or IGF1R genes.


Asunto(s)
Retardo del Crecimiento Fetal , Receptor IGF Tipo 1 , Receptores de Somatotropina , Estatura/genética , Niño , Femenino , Retardo del Crecimiento Fetal/genética , Humanos , Lactante , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Mutación , Receptor IGF Tipo 1/genética , Receptores de Somatotropina/genética
3.
J Physiol Anthropol ; 40(1): 19, 2021 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-34749804

RESUMEN

BACKGROUND: Cystic fibrosis (CF) is one of the most common autosomal recessive diseases. Factors contributing to disease exacerbations and survival rate of CF patients are type of mutation in the CFTR gene, poor nutritional status, lung failure, and infection development by Pseudomonas aeruginosa. The study aimed to evaluate the relationship between the severity of mutation, nutritional status, lung function, and Pseudomonas aeruginosa prevalence and survival rate in adult patients with cystic fibrosis. METHODS: A study of 124 (68 ♀ and 56 ♂) adults with CF aged 18-51 years were evaluated for (a) type of mutation in the CFTR gene, (b) nutritional status (BMI), (c) lung function (FEV1%), and (d) Pseudomonas aeruginosa prevalence. For statistical calculations, Kaplan-Meier analysis of survival, chi-squared test for multiple samples, and logistic regression were used. RESULTS: The type of mutation (χ2 = 12.73, df = 3, p = 0.005), FEV1% (χ2 = 15.20, df = 2, p = 0.0005), Pseudomonas aeruginosa prevalence (χ2 = 11.48, df = 3, p = 0.009), and BMI (χ2 = 31.08, df = 4, p < 0.000) significantly differentiated the probability of survival of patients with CF. The shortest life expectancy was observed in patients with a severe type of mutation on both alleles, FEV1% < 40, subjects in whom Pseudomonas culture was extensively drug-resistant or pandrug-resistant, and patients whose BMI was lower than 18.5 kg/m2. The period from 30 to 40 years of age was the most critical in CF adults' lifespan. The risk of adults with CF death doubled with Pseudomonas aeruginosa prevalence (OR = 2.06, 95% CI 1.29; 2.28) and eightfold when the bacteria acquired antibiotic resistance (OR = 8.11, 95% CI 1.67; 38.15). CONCLUSIONS: All factors included in the study were significantly related to the survival rate of patients with cystic fibrosis.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/mortalidad , Pulmón/fisiopatología , Mutación , Estado Nutricional , Infecciones por Pseudomonas/complicaciones , Pruebas de Función Respiratoria , Adolescente , Adulto , Índice de Masa Corporal , Estudios de Cohortes , Fibrosis Quística/genética , Fibrosis Quística/microbiología , Fibrosis Quística/fisiopatología , Humanos , Persona de Mediana Edad , Prevalencia , Infecciones por Pseudomonas/epidemiología , Pseudomonas aeruginosa/aislamiento & purificación , Tasa de Supervivencia , Adulto Joven
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