RESUMO
OBJECTIVE: The aim was to identify the influence of insulin-like growth factor I (IGF-1), IGF-binding protein-3 (IGFBP-3), and bone age (BA)/chronological age (CA) ratio on the response to GH therapy after 1 and 2 years of treatment and upon reaching final height. METHODS: Longitudinal, retrospective, observational study of 139 patients treated for idiopathic growth hormone deficiency. Variables examined during follow-up: (1) genetic background; (2) perinatal history; (3) anthropometry; (4) height velocity, BA, BA/CA and height prognosis; (5) analytical results (IGF-1, IGFBP-3). Final response variables: adult height (AH), AH with respect to target height, AH with respect to initial height prognosis, AH with respect to height at the start of treatment, and AH with respect to height at onset of puberty. RESULTS: Lower pretreatment IGF-1 levels and a greater increase in IGF-1 at the end of treatment imply a better response (r = -0.405, P = .007 and r = 0.274, P = .014, respectively), as does a greater increase in IGFBP-3 after 2 years of treatment and at the end of treatment (r = 0.207, P = .035 and r = 0.259, P = .020, respectively). A lower BA/CA ratio pretreatment and at the onset of puberty results in a better response (r = -0.502, P = .000 and r = -0.548, P = .000, respectively), as does a lower increase in BA and BA/CA ratio after the 1 and 2 years of treatment (r = -0.337, P = .000 and r = -0.332, P = .000, respectively). CONCLUSION: Low pretreatment IGF-1, a greater BA delay with respect to CA pretreatment and at the onset of puberty, a greater increase in IGFBP-3 after 2 years of treatment, and a lower increase in BA and BA/CA ratio after 1 and 2 years of treatment imply a better long-term response.
Assuntos
Hormônio do Crescimento , Hormônio do Crescimento Humano , Humanos , Lactente , Pré-Escolar , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/uso terapêutico , Fator de Crescimento Insulin-Like I/metabolismo , Estudos Retrospectivos , Hormônio do Crescimento Humano/uso terapêutico , Transtornos do Crescimento/tratamento farmacológico , EstaturaRESUMO
BACKGROUND: There are situations of short stature, with a normal stimulus test for GH, but decreased nocturnal secretion in which there could be a benefit with GH treatment. OBJETIVES: To assess adult height and height gain in patients with neurosecretory dysfunction diagnosis treated with growth hormone. MATERIAL Y METHODS: Longitudinal, retrospective and observational study including 61 patients treated with growth hormone after diagnosis of neurosecretory dysfunction who have already reached adult height. Variables such as adult height gain, growth rate, growth prognosis variation and IGF-I and IGFBP-3 were evaluated. Variables related to a good response in the first year have also been calculated, using the Index of responsiveness (IoR). RESULTS: GH treatment produces an improvement in growth rate and height, observing an increase in adult height with respect to initial height of 1.15±0.60 SD, height with respect to genetic height of -0.015±0.62 SD and adult height with respect to the initial growth prognosis 0,74±1,13 DE. The IoR in the first year is associated with a greater increase in height in the first year (p=0.000), with a greater adult height (p=0.000) and with a greater gain in adult height compared to its initial height (p=0.039). CONCLUSIONS: Patients with growth delay due to neurosecretory dysfunction of GH show a good response to treatment with rhGH, observing a significant height gain in their genetic size and improving their initial growth prognosis.
Assuntos
Nanismo Hipofisário , Hormônio do Crescimento Humano , Adulto , Humanos , Estudos Retrospectivos , Estatura , Hormônio do Crescimento Humano/uso terapêutico , Hormônio do CrescimentoRESUMO
Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates. OBJECTIVE: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause. CLINICAL CASE: A 10-month-old male infant with severe axial and peripheral hypotonia, global weakness with little spontaneous mobility, without head support or stable sitting. Complete metabolic and peripheral neurophysiological studies were performed. Genetic studies for spinal muscular atrophy, Prader Willi syndrome, and myotonic dystrophy were also performed. The trio exome analysis detected a probably pathogenic variant c.359C>T;p.(Ser120Phe), hemizygous in exon 1 of the SLC16A2 gene, inherited from the mother. Thyroid abnormalities as increased free triiodothyronine (T3) and thyroid-stimulating hormone (TSH), and delayed myelination were ob served. CONCLUSIONS: MCT8 deficiency should be considered in the case of the male infant with unex plained hypotonia and weakness without a determined cause. The diagnosis is guided by a thyroid profile including free T3 hormone, because it presents a characteristic thyroid profile with decreased free thyroxine (T4), increased free T3, and normal or slightly elevated TSH levels. In this case, the implementation of the trio exome analysis allows establishing an early certain diagnosis.
Assuntos
Hipotonia Muscular , Simportadores , Humanos , Lactente , Masculino , Deficiência Intelectual Ligada ao Cromossomo X , Transportadores de Ácidos Monocarboxílicos/genética , Hipotonia Muscular/etiologia , Hipotonia Muscular/genética , Atrofia Muscular , Simportadores/genética , Hormônios Tireóideos , TireotropinaRESUMO
OBJECTIVE: To assess the functionality and feasibility of the GROWIN app for promoting early detection of growth disorders in childhood, supporting early interventions, and improving children's lifestyle by analyzing data collected over 3 years (2018-2020). METHODS: We retrospectively assessed the growth parameters (height, weight, body mass index [BMI], abdominal circumference) entered by users (caregivers/parents) in the GROWIN app. We also analyzed the potential health problems detected and the messages/recommendations the app showed. Finally, we assessed the possible impact/benefit of the app on the growth of the children. RESULTS: A total of 21 633 users (Spanish [65%], Latin American [30%], and others [5%]) entered 10.5 ± 8.3 measurements (0-15 y old). 1200 recommendations were for low height and 550 for low weight. 1250 improved their measurements. A specialist review was recommended in 500 patients due to low height. 2567 nutrition tests were run. All children with obesity (n = 855, BMI: 27.8 kg/m2 [2.25 SD]) completed the initial test with a follow-up of ≥1 year. Initial results (score: 8.1) showed poor eating habits (fast food, commercially baked goods, candy, etc.), with >90% not having breakfast. After 3-6 months, BMI decreased ≥1 point, and test scores increased ≥2 points. This benefit was maintained beyond 1 year and was correlated with an improvement in BMI (r = -.65, P = .01). DISCUSSION/CONCLUSIONS: The GROWIN app represents an innovative automated solution for families to monitor growth. It allows the early detection of abnormal growth indicators during childhood and adolescence, promoting early interventions. Additionally, in children with obesity, an improvement in healthy nutritional habits and a decrease in BMI were observed.
Assuntos
Aplicativos Móveis , Telemedicina , Adolescente , Índice de Massa Corporal , Criança , Humanos , Obesidade , Estudos RetrospectivosRESUMO
BACKGROUND AND OBJECTIVE: Children born small for gestational age (SGA) show higher risk of neurodevelopmental and cognitive abnormalities. The objective of this study is to determine in children born SGA the neurodevelopment during the first 2 years of life and to establish the influence of anthropometric data, gestational age, multiple gestation and perinatal factors. PATIENTS AND METHOD: Observational, prospective, descriptive and analytical study of the neurocognitive assessment performed, with Brunet-Lézine test, on SGA children (nâ¯=â¯91) from 3 to 24 months of age, comparing with own controls. RESULTS: Ninety-one SGA children, 47% girls, 83.5% single pregnancies; mean gestational age 37.7 weeks (standard deviation (SD) 2.1). Weight at birth 2053â¯g (SD 433.1), length 43.9â¯cm (SD 2.6) and head circumference 31.7â¯cm (SD 1.7). The SGA population shows significantly lower neurodevelopment than the control population, with a tendency to improve during the first 2 years of life. There are no differences by sex. SGA children born to multiple gestations have lower neurodevelopment only during the first year of life. There is a direct and positive correlation between weight, length and head circumference with neurocognitive development at 6, 9, 12 and 18 months. Gestational age correlated with better neurodevelopment at 3 and 6 months. CONCLUSIONS: Children born SGA present lower neurodevelopment than the control population. A greater impact on weight, length, and head circumference at birth is correlated with poorer neurocognitive development. Multiparity does not show significant influence on neurodevelopment evolution.
Assuntos
Retardo do Crescimento Fetal , Recém-Nascido Pequeno para a Idade Gestacional , Antropometria , Criança , Pré-Escolar , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Estudos ProspectivosRESUMO
INTRODUCTION: Short stature is the most frequent reason for consultation in Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. The aim of the study was to analyze the response to treatment based on its onset in pubertal or prepubertal stages and to analyze the possible benefit of an early onset. PATIENTS AND METHODS: Longitudinal, retrospective and observational study in 139 patients treated for idiopathic growth hormone deficiency up to adult height. MAIN VARIABLES STUDIED: (a) genetic background: maternal, paternal and genetic height; (b) perinatal history; (c) anthropometry during follow-up and at pubertal onset: weight, height, body mass index; (d) variables during follow-up and at pubertal onset: growth rate, bone age and growth prognosis. Final response variables: adult height, adult height with respect to target height, adult height with respect to initial growth prediction, adult height with respect to initial height at the start of treatment and adult height with respect to height at pubertal onset. RESULTS: Total pubertal gain was 0.84 ± 0.6 SD. 61.9% of the patients started treatment with rhGH in prepuberty. The initiation of treatment in the prepubertal stage and a higher total pubertal gain are correlated with a better final height (P = 0.001 and r = 0.507, P = 0.00, respectively). Furthermore, a longer duration of treatment in pre-puberty is correlated with a better final response (r = 0.328, P = 0.00). CONCLUSIONS: The start of treatment in the prepubertal stage and its longer duration during this period are determining factors to achieve a good long-term response. Total pubertal gain was greater in patients who started treatment in the pubertal stage.
Assuntos
Nanismo Hipofisário , Hormônio do Crescimento Humano , Adulto , Criança , Hormônio do Crescimento , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Puberdade , Estudos RetrospectivosRESUMO
INTRODUCTION: Short stature is the most frequent reason for Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. OBJECTIVE: The possible correlation of a good response to any early response factor with a better final response was studied, and also whether there was a difference in response to treatment according to the type of deficit. PATIENTS AND METHODS: This was a longitudinal, retrospective and observational study of 139 patients treated for idiopathic growth hormone deficiency up to adult height. There were good response criteria in the first year of treatment: a) an increase in growth rate ≥3â¯cm/year, b) a growth rate ≥1 standard deviation (SD), c) an increase in height ≥0.5 SD, d) an increase in height ≥0.3 SD. Study of the Index of Responsiveness to treatment in the first and second year. Final response variables: adult height with respect to target height, adult height with respect to initial growth prediction and adult height with respect to initial height at the start of treatment. The possible correlation of a good response to any of the early response factors with a better final response to treatment was studied, and also whether there was a difference in the response to treatment according to the type of deficit. RESULTS: The treatment produced a gain in adult height with respect to genetic height of 0.06⯱â¯0.7 SD. Patients considered good responders in the first year of treatment presented a better final response (growth rate ≥3â¯cm: pâ¯=â¯0.000, growth rate ≥1 SD: pâ¯=â¯0.008, height gain ≥0.5 SD: pâ¯=â¯0.007, height gain ≥0.3 SD: pâ¯=â¯0.006), as well as patients with a severe deficit (pâ¯=â¯0.04). The index of responsiveness to treatment during the first year was associated with a better final response (râ¯=â¯0.249, pâ¯=â¯0.003), with this correlation being maintained in the second year (râ¯=â¯0.294, pâ¯=â¯0.01). CONCLUSIONS: Growth hormone treatment increased height in the genetic target. The percentage of good responders varied depending on the criteria used. The response in the first year of treatment and a severe deficit were determining factors for achieving a good long-term response.
Assuntos
Nanismo Hipofisário , Hormônio do Crescimento Humano , Adulto , Estatura , Criança , Hormônio do Crescimento , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Estudos RetrospectivosRESUMO
BACKGROUND AND OBJECTIVE: Children born small for gestational age (SGA) show higher risk of neurodevelopmental and cognitive abnormalities. The objective of this study is to determine in children born SGA the neurodevelopment during the first 2 years of life and to establish the influence of anthropometric data, gestational age, multiple gestation and perinatal factors. PATIENTS AND METHOD: Observational, prospective, descriptive and analytical study of the neurocognitive assessment performed, with Brunet-Lézine test, on SGA children (n=91) from 3 to 24 months of age, comparing with own controls. RESULTS: Ninety-one SGA children, 47% girls, 83.5% single pregnancies; mean gestational age 37.7 weeks (standard deviation [SD] 2.1). Weight at birth 2,053g (SD 433.1), length 43.9cm (SD 2.6) and head circumference 31.7cm (SD 1.7). The SGA population shows significantly lower neurodevelopment than the control population, with a tendency to improve during the first 2 years of life. There are no differences by sex. SGA children born to multiple gestations have lower neurodevelopment only during the first year of life. There is a direct and positive correlation between weight, length and head circumference with neurocognitive development at 6, 9, 12 and 18 months. Gestational age correlated with better neurodevelopment at 3 and 6 months. CONCLUSIONS: Children born SGA present lower neurodevelopment than the control population. A greater impact on weight, length, and head circumference at birth is correlated with poorer neurocognitive development. Multiparity does not show significant influence on neurodevelopment evolution.
RESUMO
INTRODUCTION: Short stature is the most frequent reason for consultation in Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. The aim of the study was to analyze the response to treatment based on its onset in pubertal or prepubertal stages and to analyze the possible benefit of an early onset. PATIENTS AND METHODS: Longitudinal, retrospective and observational study in 139 patients treated for idiopathic growth hormone deficiency up to adult height. MAIN VARIABLES STUDIED: (a) genetic background: maternal, paternal and genetic height; (b) perinatal history; (c) anthropometry during follow-up and at pubertal onset: weight, height, body mass index; (d) variables during follow-up and at pubertal onset: growth rate, bone age and growth prognosis. Final response variables: adult height, adult height with respect to target height, adult height with respect to initial growth prediction, adult height with respect to initial height at the start of treatment and adult height with respect to height at pubertal onset. RESULTS: Total pubertal gain was 0.84±0.6 SD. 61.9% of the patients started treatment with rhGH in prepuberty. The initiation of treatment in the prepubertal stage and a higher total pubertal gain are correlated with a better final height (P=.001 and r=0.507, P=.00, respectively). Furthermore, a longer duration of treatment in pre-puberty is correlated with a better final response (r=0.328, P=.00). CONCLUSIONS: The start of treatment in the prepubertal stage and its longer duration during this period are determining factors to achieve a good long-term response. Total pubertal gain was greater in patients who started treatment in the pubertal stage.
RESUMO
INTRODUCTION: Short stature is the most frequent reason for Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. OBJECTIVE: The possible correlation of a good response to any early response factor with a better final response was studied, and also whether there was a difference in response to treatment according to the type of deficit. PATIENTS AND METHODS: This was a longitudinal, retrospective and observational study of 139 patients treated for idiopathic growth hormone deficiency up to adult height. There were good response criteria in the first year of treatment: a) an increase in growth rate≥3cm / year, b) a growth rate≥1 standard deviation (SD), c) an increase in height≥0.5 SD, d) an increase in height≥0.3 SD. Study of the Index of Responsiveness to treatment in the first and second year. Final response variables: adult height with respect to target height, adult height with respect to initial growth prediction and adult height with respect to initial height at the start of treatment. The possible correlation of a good response to any of the early response factors with a better final response to treatment was studied, and also whether there was a difference in the response to treatment according to the type of deficit. RESULTS: The treatment produced a gain in adult height with respect to genetic height of 0.06±0.7 SD. Patients considered good responders in the first year of treatment presented a better final response (growth rate≥3cm: p=0.000, growth rate≥1 SD: p=0.008, height gain≥0.5 SD: P=0.007, height gain≥0.3 SD: P=0.006), as well as patients with a severe deficit (P=0.04). The index of responsiveness to treatment during the first year was associated with a better final response (r=0.249, P=0.003), with this correlation being maintained in the second year (r=0.294, P=0.01). CONCLUSIONS: Growth hormone treatment increased height in the genetic target. The percentage of good responders varied depending on the criteria used. The response in the first year of treatment and a severe deficit were determining factors for achieving a good long-term response.
RESUMO
INTRODUCTION: Osteogenesis imperfecta (OI) is a heterogeneous genetic disease manifesting as bone fragility and fractures. PATIENTS AND METHODS: Retrospective descriptive study analysing clinical and genetic features, and treatment of patients with OI. RESULTS: Forty patients were included; 32.5% males, 67.5% females; 29 children, 11 adults. Number of fractures at diagnosis with mild OI was 4.6±6.4 (average age at diagnosis 7.8±12.8years), with moderate OI 1.7±2.4 (age at diagnosis .04±.3years), in severe OI 3.7±2.1 and in extremely severe forms 12.5±7.8, both groups diagnosed at birth. Genetic study in 32 patients, 25 with a positive genetic study (pathogenic/probably pathogenic variant). COL1A1 gene was the most frequently affected. In 7 patients, no pathogenic or probably pathogenic variant was found (5 diagnosed by biochemical study of typeI collagen). Nineteen patients were treated with bisphosphonates; 7 combined with growth hormone. The patients treated with bisphosphonates showed clinical improvement (reduction of bone pain and/or irritability) and reduction of fractures. CONCLUSIONS: The COL1A1 gene is the most frequently affected. OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life.
Assuntos
Osteogênese Imperfeita , Adulto , Criança , Colágeno Tipo I/genética , Feminino , Humanos , Recém-Nascido , Masculino , Mutação , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese Imperfeita/genética , Qualidade de Vida , Estudos RetrospectivosAssuntos
Tireotropina/sangue , Algoritmos , Criança , Feminino , Bócio/diagnóstico por imagem , Humanos , Hipotireoidismo/diagnóstico , Hipotireoidismo/etiologia , Masculino , Estudos Retrospectivos , Fatores de Risco , Sensibilidade e Especificidade , Tireoidite Autoimune/complicações , Tiroxina/sangueRESUMO
BACKGROUND AND OBJECTIVE: Recombinant human growth hormone (rhGH) treatment in small for gestational age (SGA) children has been effective, although there is significant variability in the response. Adult height and the factors that determine the long-term response are evaluated. PATIENTS AND DESIGN: A retrospective study of 80 patients born SGA with short stature treated with rhGH and followed until adult height (23 males). RESULTS: The group starting treatment pre-puberty reached a higher Adult height (-1.4±0.6 vs. -1.9±.6 in pubertal children), the highest final height gain was achieved in those treated for at least 2years prepuberty (1.32±.5 SDS). Factors associated with greater adult height gain were: a) less height, weight and BMI at start of treatment, b) lower chronological and bone age with lower IGF-I before treatment, c) greater distance to target height, d) higher growth velocity the first and second year of treatment, and higher height gain before and during puberty. The percentage of patients with good response in the first year ranged from 46.6% to 81.6% depending on the criteria. Growth velocity increase ≥3cm/ first year correlated best with long-term response. CONCLUSION: rhGH treatment in children born SGA produced a varying increase in adult height that allowed them to reach their adult height. The best results occurred in the prepubertal group and did not depend on pituitary GH response.
Assuntos
Estatura , Hormônio do Crescimento Humano , Recém-Nascido Pequeno para a Idade Gestacional , Adulto , Feminino , Hormônio do Crescimento , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Survival of childhood acute lymphoblastic leukaemia involves an increasing risk of long-term morbidities. Due to the impact of cancer treatment and comorbidities, AL survivors may experience a decrease in their health-related quality of life. OBJECTIVE: We aimed to describe the long-term comorbidities, related quality of life and their development predictors in these survivors. METHODS: cross-sectional study of 54 survivors aged ≥18 and who have a survival rate of more than 10 years. Quality of life was assessed by personal interview using SF-36 questionnaire. RESULTS: 53.7% of AL survivors developed more than one comorbidity (24.7% hypothyroidism; 20.3% obesity; 14.8% metabolic syndrome; 18.5% subclinical cardiac dysfunction); 20.3% of them were severe. 73.3% of high-risk leukaemias and 66.6% of patients treated with radiotherapy or stem cells transplantation reported long-term comorbidity, P<.05. Global quality of live score was: 86.3 (14) (classified as very good). Patients with high-risk acute leukaemia (83.2 vs. 89.5), severe long-term comorbidities (80.4 vs. 89.7) and females (81.8 vs. 89.9), reported worse quality of life, P<.05. Physical summary score was worse in: obese (80 vs. 92) and hypothyroid (84.9 vs. 92.4) and radiotherapy-treated survivors (82.3 vs. 87.5); mental summary was worse in survivors with hypogonadism (68.2 vs. 86.3) and trasplanted patients (77.2 vs. 83.1), P<.05. CONCLUSIONS: Acute leukaemia survivors reported an increase prevalence of chronic comorbidities, related to cancer-treatment. Despite a decrease in scores for certain physical or mental items, global quality of life was very good in all acute leukaemia survivors, even better than compared with the general population.
Assuntos
Sobreviventes de Câncer , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Qualidade de Vida , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Pré-Escolar , Doença Crônica , Comorbidade , Radiação Cranioespinal/efeitos adversos , Estudos Transversais , Feminino , Cardiopatias/epidemiologia , Humanos , Hipogonadismo/epidemiologia , Hipotireoidismo/epidemiologia , Masculino , Síndrome Metabólica/epidemiologia , Obesidade/epidemiologia , Prevalência , Fatores de Risco , Fatores Sexuais , Transplante de Células-Tronco/efeitos adversos , Taxa de Sobrevida , Adulto JovemAssuntos
Colágeno Tipo I/genética , Proteínas da Matriz Extracelular/genética , Glicoproteínas de Membrana/genética , Chaperonas Moleculares/genética , Mutação , Osteogênese Imperfeita/genética , Prolil Hidroxilases/genética , Proteoglicanas/genética , Cadeia alfa 1 do Colágeno Tipo I , Feminino , Marcadores Genéticos , Humanos , Osteogênese Imperfeita/diagnósticoRESUMO
BACKGROUND: the main action of vitamin D is to maintain the concentration of calcium and phosphorus within the physiological range, allowing normal metabolism and bone mineralization. Vitamin D receptors have recently been described in many tissues, therefore vitamin D deficiency has been related not only to rickets, but also to increased risk of diabetes, obesity, cardiovascular, oncological, infectious and autoimmune diseases. OBJECTIVE: the aim of the study was to know the vitamin D concentration in a healthy pediatric population and to verify its influential factors, as well as to analyze the current situation of vitamin D prophylaxis and to evaluate the effectiveness of current recommendations. METHODS: one hundred and seven healthy patients aged between one and 15 years were selected, who required a blood test as a preoperative minor surgery and whose pathology did not influence the parameters of the study. RESULTS: the sample analyzed had a total of 78.5% males and a mean age of 7.17 ± 3.79 years. Mean values of vitamin D were 26.07 ± 7.11 ng/ml; up to 72.9% had insufficient levels. The sample was divided into two groups: patients with hypovitaminosis D and patients with optimal vitamin D levels. A predominance of males with a higher body mass index, from immigrant parents, and the presence of extreme phototypes were observed in the hypovitaminosis group. There was also a higher risk of hypovitaminosis in those who had not performed prophylaxis during the first year of life. CONCLUSIONS: the high percentage of healthy children with vitamin D deficiency is evident, and current recommendations for prophylaxis are not carried out by the population as recommended by current guidelines.
Introducción: la principal acción de la vitamina D es mantener la concentración de calcio y fósforo dentro del rango fisiológico permitiendo el metabolismo normal y la mineralización ósea. Últimamente, se han descrito receptores de vitamina D en muchos tejidos y se ha relacionado la deficiencia de la vitamina D no solo con raquitismo y osteomalacia, sino también con mayor riesgo de diabetes, obesidad, enfermedades cardiovasculares, oncológicas, infecciosas y autoinmunes.Objetivo: el objetivo del estudio fue conocer la concentración de vitamina D en una población pediátrica sana y comprobar sus factores influyentes, así como analizar la situación actual de profilaxis de vitamina D y valorar la eficacia de las recomendaciones actuales.Métodos: se seleccionaron 107 pacientes sanos, de edades comprendidas entre uno y 15 años, que precisaron una analítica sanguínea como preoperatorio de cirugía menor, cuya patología no influyera en los parámetros del estudio.Resultados: la muestra estaba constituida en un 78,5% por varones y presentaba una media de edad de 7,17 ± 3,79 años. La concentración media de vitamina D fue de 26,07 ± 7,11 ng/ml y hasta un 72,9% presentaba niveles insuficientes. Se dividió la muestra en dos grupos: pacientes con hipovitaminosis D y pacientes con niveles óptimos de vitamina D. Se observó en el grupo con hipovitaminosis un predominio de varones, mayor índice de masa corporal y la presencia de fototipos extremos así como provenientes de padres inmigrantes. También presentaban mayor riesgo de hipovitaminosis los que no habían realizado profilaxis durante el primer año de vida.Conclusiones: se pone de manifiesto el alto porcentaje de población infantil sana con déficit de vitamina D y que las recomendaciones actuales de profilaxis no son llevadas a cabo por la población como recomiendan las guías actuales.
Assuntos
Deficiência de Vitamina D/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estado Nutricional , Estudos Prospectivos , Espanha/epidemiologia , Vitamina D/sangueRESUMO
Heart disease is the leading cause of non-cancer death in childhood cancer survivors. to determine the prevalence of subclinical cardiac dysfunction using speckle tracking and compare its results with those obtained by classical methods of assessing left ventricular function and its relationship with different factors to identify the population at higher risk. Echocardiographic assessment of left ventricular function included ejection fraction, tissue Doppler, longitudinal/circumferential strains and biochemical parameters (troponin-T and Pro-BNP) in a cohort of 57 survivors of childhood acute leukaemia with at least 10 years since diagnosis. Ventricular dysfunction was found in 5.2% of patients in M-mode (ejection fraction-EF < 53% with a reduction in the EF ≥ 10%) and in 7% of patients with Simpson's method, compared with 21.05 and 8.8% with suboptimal global longitudinal strain (GLS) and global circumferential strain, respectively. The GLS alteration was significantly correlated with lower values of left ventricular systolic function and was associated with high tumour risk (odds ratio [OR] 13.8), cumulative doses of anthracyclines ≥ 250 mg/m2 (OR 7.6) and radiotherapy (OR 7.19). Biomarkers were not useful for the diagnosis of subclinical cardiomyopathy. Good reproducibility was obtained, with an intraobserver correlation of 93.6% and an interobserver correlation of 89.2% in the GLS. The alteration of the GLS was more prevalent than the alteration in the EF and was associated with the treatment received and high tumour risk. strain imaging seems to be a powerful tool to identify an increased number of survivor with an early myocardial injury.
Assuntos
Ecocardiografia/métodos , Leucemia/tratamento farmacológico , Leucemia/radioterapia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Adolescente , Adulto , Antraciclinas/efeitos adversos , Antraciclinas/uso terapêutico , Antineoplásicos/efeitos adversos , Criança , Estudos Transversais , Feminino , Humanos , Leucemia/complicações , Masculino , Lesões por Radiação/diagnóstico por imagem , Lesões por Radiação/etiologia , Radioterapia/efeitos adversos , Estudos Retrospectivos , Fatores de Tempo , Disfunção Ventricular Esquerda/induzido quimicamente , Disfunção Ventricular Esquerda/etiologia , Disfunção Ventricular Esquerda/fisiopatologia , Adulto JovemRESUMO
INTRODUCTION: Premature pubarche (PP) is generally thought to be a benign condition, but it can also be the first sign of underlying disease. OBJECTIVE: To analyse the aetiology and the evolution of the anthropometric, analytical and metabolic risk parameters of a group of patients with PP. MATERIAL AND METHODS: A descriptive and analytical retrospective study of 92 patients affected by PP. Anthropometry, analyses, bone age and indicators of lipid metabolism were all evaluated. RESULTS: The sample included 92 patients with PP (67 female and 25 male), with a mean age of 7.1±0.6 for girls and 8.3±0.7 for boys. Small for gestational age was recorded in 7.7%. There was an accelerated bone age (1.20±0.1 years). A total of 21 patients were classified as idiopathic (23%), 60 as idiopathic premature adrenarche (65%), and 11 with non-classic congenital adrenal hyperplasia (12%). Puberty was reached early (11+0.9 years old in boys and 9.9±0.8 in girls), as was menstruation age (11.8+1.1 years old), P<.001. The stature finally reached was close to their genetic stature. There is a positive correlation between body mass index, blood glucose and LDL cholesterol, as well as a tendency towards hyperinsulinaemia. CONCLUSIONS: The present study shows that PP is a benign condition in the majority of cases, but non-classic congenital adrenal hyperplasia (12%) is not uncommon. Menstruation and puberty started early and bone age was accelerated. Growth was normal, and more or less in line with genetic size. PP associated with obesity is linked with analytical variations of metabolic risks.
Assuntos
Puberdade Precoce , Criança , Progressão da Doença , Feminino , Humanos , Masculino , Puberdade Precoce/complicações , Puberdade Precoce/etiologia , Estudos RetrospectivosRESUMO
OBJECTIVE: The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. MATERIAL AND METHODS: A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. RESULTS: A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). CONCLUSIONS: Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment.