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1.
Int J Aging Hum Dev ; 87(3): 309-322, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-29945454

RESUMEN

Adult day centers provide comprehensive care for older adults and may enhance autonomy, well-being, and socialization. This quasi-experimental study evaluated the impact of such multidisciplinary day care on functionality, fear of falling, and risk of falls in community elders. Fifty-two seniors who attended day services were followed for 1 year. During the year, the adults maintained functionality for activities of daily living, presented improvement in instrumental activities of daily living, and no longer presented high risk for falls. No association was found between the risk of falling and fear of falling, however. Results are discussed in terms of the positive outcomes of attending day services.


Asunto(s)
Accidentes por Caídas/estadística & datos numéricos , Actividades Cotidianas , Centros de Día para Mayores/estadística & datos numéricos , Vida Independiente/estadística & datos numéricos , Anciano , Anciano de 80 o más Años , Brasil , Estudios de Cohortes , Miedo/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Riesgo
2.
Hum Mutat ; 35(5): 521-31, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24599544

RESUMEN

Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n = 29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. The review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.


Asunto(s)
Ano Imperforado/genética , Displasia Ectodérmica/genética , Trastornos del Crecimiento/genética , Pérdida Auditiva Sensorineural/genética , Hipotiroidismo/genética , Discapacidad Intelectual/genética , Mutación/genética , Nariz/anomalías , Enfermedades Pancreáticas/genética , Ubiquitina-Proteína Ligasas/genética , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Ano Imperforado/patología , Bases de Datos Genéticas , Enanismo/genética , Enanismo/patología , Displasia Ectodérmica/patología , Trastornos del Crecimiento/patología , Pérdida Auditiva Sensorineural/patología , Humanos , Hipotiroidismo/patología , Discapacidad Intelectual/patología , Nariz/patología , Enfermedades Pancreáticas/patología , Fenotipo
3.
J Pediatr (Rio J) ; 100 Suppl 1: S40-S47, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37913820

RESUMEN

OBJECTIVES: Narrative review evaluating food contamination by endocrine disruptors present in food packaging. DATA SOURCE: The terms "endocrine disruptors" and "food packaging" were used in combination in the PubMed, MEDLINE and SciELO databases, evaluating studies, in humans, published in Portuguese, English, French and Spanish between 1990 and 2023. DATA SYNTHESIS: Packaging, especially those made from plastic or recycled material, is an important source of food contamination by endocrine disruptors. Bisphenols and phthalates are the endocrine disruptors most frequently associated with food contamination from packaging. However, many unknown substances and even those legally authorized can cause harm to health when exposure is prolonged or when substances with additive effects are mixed. Furthermore, the discarding of packaging can cause contamination to continue into the environment. CONCLUSION: Although packaging materials are essential for the transport and storage of food, many of them are associated with chemical contamination. As it is not possible to exclude them from our routine, it is important to develop research aimed at identifying the endocrine disruptors present in them, including the effects of chronic exposure; and that regulatory agencies and industry come together to reduce or prevent this risk. Additionally, consumers must be instructed on how to purchase products, handle them and prepare them to reduce the migration of chemical substances into food.


Asunto(s)
Disruptores Endocrinos , Ácidos Ftálicos , Humanos , Embalaje de Alimentos , Disruptores Endocrinos/efectos adversos , Disruptores Endocrinos/análisis , Disruptores Endocrinos/química , Alimentos , Contaminación de Alimentos/análisis , Contaminación de Alimentos/prevención & control , Ácidos Ftálicos/efectos adversos
4.
Horm Res Paediatr ; 2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38310868

RESUMEN

BACKGROUND: Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis is challenging as there are many skeletal dysplasias with similar phenotypes. SUMMARY: In this review, we describe the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the workup of a child with suspected skeletal dysplasia. Diagnosis requires clinical, laboratory, and radiological evaluation to differentiate potential conditions in the patient. Genotyping has emerged as a confirmatory tool in many cases, enabling personalized treatment through a multidisciplinary approach and assessment of associated comorbidities. KEY MESSAGES: As skeletal dysplasias often present with short stature, proportionate or disproportionate, the pediatric endocrinologist plays a crucial role in initial investigative and diagnostic guidance. Identifying the critical clinical manifestations, conducting appropriate initial screening tests, and referring for multidisciplinary follow-up contribute to expeditious diagnosis and family support.

5.
J Pediatr (Rio J) ; 100 Suppl 1: S31-S39, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38529679

RESUMEN

OBJECTIVES: Narrative review evaluating the use of dietary supplements by children and adolescents. DATA SOURCE: The terms "dietary supplements", "children" and "adolescents" were used in combination in the PubMed, MEDLINE, and SciELO databases, between 2000 and 2023, evaluating studies in humans, published in Portuguese, English, French and Spanish. DATA SYNTHESIS: The use of dietary supplements by children and adolescents has increased in recent decades. The most commonly used supplements are vitamins, minerals, trace elements, proteins, amino acids, melatonin, fatty acids, probiotics and energy drinks. CONCLUSION: Despite having specific indications, most of the time they are not prescribed by a healthcare professional. The reasons for use are varied. In children, the main reasons are protection against infections, stimulating growth, and poor food intake, with multivitamins and minerals being the most commonly used supplements. In adolescents, they are used to improve athletic performance and attain the "ideal body", with proteins and amino acids being the most often used nutrients. As they are not regulated by health agencies and are sold without a prescription, their unsupervised use can lead to inadequate doses, with inefficiency or overdose risk. As for compounding formulations, or when available in preparations with multiple nutrients, the chance of errors increases. It is essential that pediatricians advise parents and patients about the indications, risks and benefits, prescribing them when necessary.


Asunto(s)
Suplementos Dietéticos , Oligoelementos , Niño , Humanos , Adolescente , Suplementos Dietéticos/efectos adversos , Vitaminas , Minerales , Aminoácidos
6.
Childs Nerv Syst ; 29(3): 513-6, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23314738

RESUMEN

INTRODUCTION: Hypothalamic hamartomas are very rare (1:200,000) and range in size from 17.9 to 18 mm. When their dimensions exceed 30-40 mm, they are classified as giant hypothalamic hamartomas. METHODS: We present a 14-month-old boy with central precocious puberty and gelastic seizures in whom a magnetic resonance imaging scan revealed a giant hypothalamic hamartoma measuring 50 × 50 × 40 mm. RESULTS: In the 11 cases described so far, we found that in comparison to the average-size lesion, giant hypothalamic hamartomas had a lower frequency of precocious puberty, but a similar frequency of seizures. The mean age at diagnosis was younger, and males were more affected than females. Magnetic resonance imaging results were similar with the exception of mass effect. CONCLUSIONS: Giant hypothalamic hamartomas had a higher tendency to adhere to surrounding structures. Their invasiveness and cystic degeneration were frequent findings among the 11 studies. Surgical removal was ineffective in controlling refractory epilepsy and caused postoperative morbidity in all patients.


Asunto(s)
Epilepsia/cirugía , Hamartoma/patología , Enfermedades Hipotalámicas/patología , Pubertad Precoz/cirugía , Epilepsia/etiología , Hamartoma/complicaciones , Hamartoma/diagnóstico por imagen , Hamartoma/cirugía , Humanos , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/diagnóstico por imagen , Enfermedades Hipotalámicas/cirugía , Lactante , Masculino , Tamaño de los Órganos , Pubertad Precoz/etiología , Radiografía , Resultado del Tratamiento
7.
J Pediatr Endocrinol Metab ; 26(5-6): 557-60, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23412865

RESUMEN

Pseudohypoparathyroidism type Ia (PHP Ia) is a rare disease characterized by an elevated parathyroid hormone due to the resistance to its action in target tissues. We report a new GNAS mutation causing PHP Ia and an atypical early-onset primary hypothyroidism. A 3-year-old boy was diagnosed with obesity, delayed pyschomotor development, and round face. The laboratory evaluation at the age of 1 year showed primary hypothyroidism, hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase, and parathyroid hormone. These data led to the diagnosis of PHP Ia. Molecular analysis revealed a novel missense mutation in GNAS exon 1 (TCG→CGC, Cys3→Arg) in both the child and his mother. Although previously reported cases described delayed subclinical hypothyroidism as the more common thyroid abnormality, we report a not previously described GNAS mutation associated with an atypical early-onset primary hypothyroidism. These observations broaden the clinical spectrum of PHP Ia and its associated mutations.


Asunto(s)
Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Hipocalcemia/genética , Hipotiroidismo/genética , Seudohipoparatiroidismo/genética , Brasil , Preescolar , Cromograninas , Salud de la Familia , Femenino , Humanos , Masculino , Mutación Missense
8.
Artículo en Inglés | MEDLINE | ID: mdl-37717624

RESUMEN

BACKGROUND AND OBJECTIVES: Evidence has shown a cause-and-effect relationship between type 1 diabetes mellitus and auditory and cognitive dysfunctions. This study aimed to investigate the effect of type 1 diabetes mellitus (T1DM) on central auditory and cognitive functions in school-age children and adolescents. METHODS: The study sample consisted of 101 children and adolescents, 50 with T1DM, of both sexes, aged between 7 and 18 years. All participants were selected for a structured interview on hearing, behavioral, and cognitive health and assessment of brainstem auditory evoked potentials (BAEP) and event-related potentials (P300). RESULTS: Significant differences were observed in memory (p=0.002) and attention (p=0.021) complaints between participants with and without T1DM. In the BAEP responses, there were differences between wave III latencies in the right (p=0.017) and left (p=0.019) ears and in wave V latencies in the left ear (p=0.001) between the evaluated groups. In addition, there was an association between BAEP findings and metabolic control in the T1DM group in the left ear in waves III (p=0.006) and V (p=0.005) and in the right ear in wave V (p=0.026). No differences were observed in the latencies of P300 between the evaluated groups. CONCLUSION: This study demonstrated the existence of a subclinical finding in the central auditory pathway, offering an increased risk for retrocollear alterations, which may be a consequence of poor metabolic control.


Asunto(s)
Diabetes Mellitus Tipo 1 , Masculino , Femenino , Adolescente , Humanos , Niño , Diabetes Mellitus Tipo 1/complicaciones , Audición/fisiología , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Pruebas Auditivas
9.
Eur J Endocrinol ; 189(3): 387-395, 2023 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-37695807

RESUMEN

OBJECTIVE: Our study aimed to assess the impact of genetic modifiers on the significant variation in phenotype that is observed in individuals with SHOX deficiency, which is the most prevalent monogenic cause of short stature. DESIGN AND METHODS: We performed a genetic analysis in 98 individuals from 48 families with SHOX deficiency with a target panel designed to capture the entire SHOX genomic region and 114 other genes that modulate growth and/or SHOX action. We prioritized rare potentially deleterious variants. RESULTS: We did not identify potential deleterious variants in the promoter or intronic regions of the SHOX genomic locus. In contrast, we found eight heterozygous variants in 11 individuals from nine families in genes with a potential role as genetic modifiers. In addition to a previously described likely pathogenic (LP) variant in CYP26C1 observed in two families, we identified LP variants in PTHLH and ACAN, and variants of uncertain significance in NPR2, RUNX2, and TP53 in more affected individuals from families with SHOX deficiency. Families with a SHOX alteration restricted to the regulatory region had a higher prevalence of a second likely pathogenic variant (27%) than families with an alteration compromising the SHOX coding region (2.9%, P = .04). CONCLUSION: In conclusion, variants in genes related to the growth plate have a potential role as genetic modifiers of the phenotype in individuals with SHOX deficiency. In individuals with SHOX alterations restricted to the regulatory region, a second alteration could be critical to determine the penetrance and expression of the phenotype.


Asunto(s)
Enanismo , Humanos , Intrones , Genómica , Placa de Crecimiento , Fenotipo , Enfermedades Raras , Proteína de la Caja Homeótica de Baja Estatura/genética
10.
Pediatr Diabetes ; 13(6): e30-4, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22369150

RESUMEN

The association of type 1 diabetes mellitus (T1DM) and acute chorea is rare. We report an 8-yr-old boy with T1DM who developed acute hemichorea-hemiballism of the right arm in whom magnetic resonance imaging (MRI) of the brain revealed hyperintense signal in putamen and considerable atrophy and focal area of gliosis in the right putamen. There was a deposition of deoxyhemoglobin indicating recent bleeding in the left lentiform nucleus. A control MRI 2 months later showed complete reabsorption of the blood component in the left lentiform nucleus. Multislice computerized tomography revealed hyperdensities in the corpus striatum and subcortical calcifications. This report describes, for the first time, findings of calcifications in the corticomedullary junction in the brain hemispheres of a child with T1DM and chorea and reviews the possible causal mechanisms of this unusual association.


Asunto(s)
Corea/complicaciones , Corea/diagnóstico por imagen , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico por imagen , Neuroimagen , Enfermedad Aguda , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encefalopatías/complicaciones , Encefalopatías/diagnóstico por imagen , Calcinosis/complicaciones , Calcinosis/diagnóstico por imagen , Niño , Humanos , Masculino , Neuroimagen/métodos , Radiografía
11.
J Pediatr Endocrinol Metab ; 25(3-4): 323-5, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22774233

RESUMEN

We report a long-term follow-up on the use of anastrozole in the treatment of peripheral precocious puberty (PP) in McCune-Albright syndrome (MAS). A girl, age 3 years and 9 months, was diagnosed with MAS due to PP, café-au-lait spots, and polyostotic fibrous dysplasia. Serum estradiol was elevated, and gonadotropins were suppressed. Pelvic ultrasound showed an enlarged uterus and a follicle cyst (13 mm) in the left ovary. Bone scintigraphy showed osteogenic lesions on the skull, humerus, tibia, and acetabulum. Bone age was 3 years and 5 months at the chronological age of 3 years. After 36 months of treatment with anastrozole (1 mg/day), there was suppression of breast growth, normalization of growth velocity and serum estradiol, and disappearance of ovarian cysts. However, there was increase in uterine volume, advancement of bone age, and two episodes of vaginal bleeding (18th and 24th months). This report shows the partial benefit of anastrozole in the treatment of peripheral PP of girls with MAS.


Asunto(s)
Inhibidores de la Aromatasa/uso terapéutico , Displasia Fibrosa Poliostótica/tratamiento farmacológico , Nitrilos/uso terapéutico , Pubertad Precoz/tratamiento farmacológico , Triazoles/uso terapéutico , Determinación de la Edad por el Esqueleto , Anastrozol , Manchas Café con Leche/complicaciones , Manchas Café con Leche/tratamiento farmacológico , Preescolar , Femenino , Displasia Fibrosa Poliostótica/complicaciones , Humanos , Pronóstico , Pubertad Precoz/complicaciones , Hemorragia Uterina/etiología
12.
J Pediatr (Rio J) ; 98 Suppl 1: S73-S85, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34921754

RESUMEN

OBJECTIVE: Endocrine disrupting chemicals (EDCs) are present in many areas and materials of the common life, and exposure to these chemicals can occur from products to personal care, from air and food. This review aims to summarize the more recent epidemiological findings for the impact of EDCs on endocrine system health in children, including effects in growth, metabolism, sexual development, and reproduction. SOURCES: The MEDLINE database (PubMed) was searched on August 24th, 2021, filtering for EDCs, endocrine disruptors, children, and humans. SUMMARY OF THE FINDINGS: Intrauterine exposure of EDCs can have transgenerational effects, thus laying the foundation for disease in later life. The dose-response relationship may not always be predictable as even low-level exposures that may occur in everyday life can have significant effects on a susceptible individual. Although individual compounds have been studied in detail, the effects of a combination of these chemicals are yet to be studied to understand the real-life situation where human beings are exposed to a "cocktail effect" of these EDCs. Epidemiological studies in humans suggest EDCs' effects on prenatal growth, thyroid function, glucose metabolism, obesity, puberty, and fertility mainly through epigenetic mechanisms. CONCLUSIONS: EDCs cause adverse effects in animals, and their effects on human health are now known and irrefutable. Because people are typically exposed to multiple endocrine disruptors, assessing public health effects is difficult. Legislation to ban EDCs and protect especially pregnant women and young children is required and needs to be revised and adjusted to new developments on a regular basis.


Asunto(s)
Disruptores Endocrinos , Animales , Preescolar , Disruptores Endocrinos/efectos adversos , Epigénesis Genética , Femenino , Humanos , Obesidad , Embarazo , Pubertad
13.
Rev Paul Pediatr ; 40: e2021049, 2022.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-35584418

RESUMEN

OBJECTIVE: To perform a systematic review in order to verify the association between full-term birth of small for gestational age (SGA) children and the outcomes in the development of oral language.Data source:Articles from MEDLINE/PubMed, Web of Science, Embase, Lilacs, SciELO and Cochrane Library databases were identified, selected and critically evaluated by two independent reviewers and a judge, blindly, without language restriction and publication period. The PRISMA tool was used, and original studies with a theme involving children born full-term and SGA were included, outcome related to aspects of oral language development, as well as the use of tests, scales and/or specific questionnaires for the investigation, whose methodology was described in full, with children as the target population.Data synthesis:The researchers included nine articles based on the eligibility criteria. Studies have shown that being born SGA can interfere in aspects related to language and reported greater chances of under performance in SGA children when compared to children with appropriate size for gestational age. It was observed that the different studies did not have a uniform design, and the objectives were quite diverse. Furthermore, few of them had as focus issues related to the assessment of language, as well as the variability of instruments used to investigate this domain. CONCLUSIONS: The effects of low weight for gestation age in full-term infants continue beyond the neonatal period and may impact on children's performance, mainly with regard to oral language development.


Asunto(s)
Retardo del Crecimiento Fetal , Recién Nacido Pequeño para la Edad Gestacional , Niño , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Parto , Embarazo
14.
J Pediatr Endocrinol Metab ; 24(1-2): 25-7, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21528811

RESUMEN

OBJECTIVE: To report a case of primary hyperphosphatemic tumoral calcinosis (TC) and its long-term 10-year follow-up. PATIENT: The patient was an 18-year-old male, who had been diagnosed with TC at the age of 8 years. In spite of nine surgeries for tumoral resection and medical treatments (i.e., aluminum hydroxide, non-steroidal anti-inflammatory agents) the lesions continued to progress. Physical examination showed calcified masses on shoulders, hip, elbows and right foot. PTH, calcitonin, 25(OH) vitamin D, 1,25(OH)2 vitamin D, renal and liver function, electrolytes, alkaline phosphatase, calcium and magnesium were normal. Serum phosphorus was elevated. FGF-23 (C-terminal): 1960 RU/mL (<180) Radiological and histological studies were compatible with TC. CONCLUSION: This long-term follow-up illustrates the morbidity and difficulty in treating these patients due to the progressive and recurrent nature of the calcified masses, for which there is no effective treatment as yet. The discovery of FGF-23 as the factor responsible for the hyperphosphatemic type of TC paves the way for forthcoming therapies.


Asunto(s)
Calcinosis/etiología , Hiperfosfatemia/complicaciones , Neoplasias/complicaciones , Adolescente , Calcinosis/diagnóstico por imagen , Codo/diagnóstico por imagen , Factor-23 de Crecimiento de Fibroblastos , Estudios de Seguimiento , Cadera/diagnóstico por imagen , Humanos , Hiperfosfatemia/diagnóstico por imagen , Masculino , Neoplasias/diagnóstico por imagen , Radiografía , Hombro/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/complicaciones , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Factores de Tiempo
15.
Front Endocrinol (Lausanne) ; 12: 671784, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34447350

RESUMEN

Congenital hypothyroidism (CH) is an endocrine disease commonly found in newborns and is related to the absence or reduction of thyroid hormones (THs), which are essential for development since intrauterine life. Children with CH can develop hearing problems as THs are crucial for the auditory pathway's development and maturation. Sensory deprivations, especially in hearing disorders at early ages of development, can impair language skills, literacy, and behavioral, cognitive, social, and psychosocial development. In this review we describe clinical and molecular aspects linking CH and hearing loss.


Asunto(s)
Hipotiroidismo Congénito/complicaciones , Pérdida Auditiva/etiología , Audición/fisiología , Trastornos del Lenguaje/etiología , Lenguaje , Niño , Hipotiroidismo Congénito/fisiopatología , Pérdida Auditiva/fisiopatología , Humanos , Trastornos del Lenguaje/fisiopatología
16.
Rev Paul Pediatr ; 39: e2020074, 2021.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-33825794

RESUMEN

OBJECTIVE: To investigate knowledge of caregivers of children with congenital hypothyroidism (CH), followed in a public reference service, as well as their associations with treatment adherence. METHODS: Exploratory, descriptive, cross-sectional study with convenience sample. Medical records of 158 patients diagnosed with congenital hypothyroidism were analyzed, and data were evaluated by applying a previously prepared questionnaire to caregivers from 2014 to 2016. Statistical analysis used the chi-square and the Spearman's correlation tests, being significant p-value ≤0.05. RESULTS: Females were predominant among caregivers (94.3%), with a mean age of 31 years, from inland cities (77.8%). There was a predominance of socioeconomic class C (59.5%) and incomplete primary education (35.7%). More than half of patients (53.2%) with CH had an adequate hormonal control. Approximately one third of caregivers had poor knowledge (37.3%) or was unaware (24.1%) about the meaning of congenital hypothyroidism. The low knowledge level of the disease was observed to be related to caregivers' educational level (p=0.004). CONCLUSIONS: Lack of education of caregivers was a barrier to be faced when monitoring children with CH. This reality requires greater attention from health professionals to ensure that they use clear language when giving instructions to caregivers, and that caregivers have adequately understood the proposed recommendations.


Asunto(s)
Cuidadores/normas , Hipotiroidismo Congénito/tratamiento farmacológico , Conocimientos, Actitudes y Práctica en Salud , Cumplimiento de la Medicación/estadística & datos numéricos , Tirotropina/uso terapéutico , Adulto , Cuidadores/estadística & datos numéricos , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Masculino , Embarazo , Encuestas y Cuestionarios
17.
Codas ; 34(2): e20200340, 2021.
Artículo en Portugués, Inglés | MEDLINE | ID: mdl-34932658

RESUMEN

PURPOSE: To characterize the use of phonological productive processes in a group of full-term children and small for gestational age and compare it with children appropriate for gestational age. METHODS: Observational, analytical, case-control and non-paired study, nested in a cohort with the outcome of phonological disorder. We assessed 36 children according to the predetermined sample calculation, 24 (66.7%) without phonological disorders and 12 (33.3%) with phonological disorders. Of these, 24 (66.7%) children were classified as small for gestational age (SGA) and 12 (33%) as appropriate for gestational age (AGA). Phonological aspects of oral language were assessed by the ABFW children's language test (2004). The results were subjected to descriptive analysis and, in order to assess the existence of an association among categorical variables, we used Fisher's exact test for association. RESULTS: The SGA group revealed a significantly higher number of phonological processes that change the syllable structure when compared to the AGA group. We noted that the phonological processes present and unexpected for age in the SGA population were: fricative plosivation, liquid simplification, palatal posteriorization and frontalization, plosive and fricative deafening, in addition to simplifying the consonant cluster and simplifying the final consonant, which were the most frequent in both groups. CONCLUSION: Although no association was found between phonological disorders and SGA children, we have noted a greater use of productive phonological processes in this group.


OBJETIVO: Caracterizar o uso de processos fonológicos produtivos no grupo de crianças nascidas a termo e pequenas para a idade gestacional e compará-lo com crianças adequadas para a idade gestacional. MÉTODO: Estudo observacional, analítico, do tipo caso-controle, não pareado, aninhado a uma coorte com o desfecho alteração fonológica. Foram avaliadas 36 crianças de acordo com o cálculo amostral pré-estabelecido, sendo 24(66,7%) sem alterações fonológicas e 12(33,3) com alteração fonológica. Dessas, 24(66,7%) crianças foram classificadas como pequeno para a idade gestacional (PIG) e 12(33%), como adequada para a idade gestacional (AIG). Os aspectos fonológicos da linguagem oral foram avaliados pelo teste de linguagem infantil ABFW (2004). Os resultados foram submetidos à análise descritiva e a fim de avaliar a existência de associação entre as variáveis categóricas, foi utilizado o teste exato de Fisher de associação. RESULTADOS: O grupo PIG apresentou significativamente maior número de processos fonológicos que alteram a estrutura da sílaba quando comparado ao grupo AIG. Observou-se que os processos fonológicos presentes e não esperados para idade na população PIG foram: plosivação de fricativa, simplificação de líquidas, posteriorização e frontalização de palatal, ensurdecimento de plosivas e fricativas, além da simplificação do encontro consonantal e simplificação de consoante final, que foram os de maior ocorrência em ambos os grupos. CONCLUSÃO: Embora não tenha sido encontrada associação entre alterações fonológicas e crianças PIG, observou-se maior uso de processos fonológicos produtivos neste grupo.


Asunto(s)
Recién Nacido Pequeño para la Edad Gestacional , Lingüística , Estudios de Casos y Controles , Niño , Edad Gestacional , Humanos , Recién Nacido , Pruebas del Lenguaje
18.
Artículo en Inglés | MEDLINE | ID: mdl-33599433

RESUMEN

INTRODUCTION: Being born small for gestational age (SGA) implies an increase in the childhood morbidity and mortality rates, in addition to being related to changes in the pattern of growth and body composition, which may be associated with the development of risk factors linked to metabolic diseases. Aim of the study: To describe the development of anthropomorphic indicators of children born at full term, small (SGA) or appropriate for gestational age (AGA), up to the sixth month of life, and again when they reached school-age. MATERIAL AND METHODS: This was a prospective cohort study, with 31 children (19 SGA, and 12 AGA), recruited in public maternity hospitals. Subsequently they were attended at an outpatient clinic on a monthly basis, by a multidisciplinary team in the first year of life. These children were re-evaluated when they reached school-age. RESULTS: Both groups showed high percentages of exclusive breastfeeding in the first months of life. Group SGA showed intense early recovery of the growth indicators, characterizing recovery of growth in the first 6 months of life. However, at school-age, they were still smaller, lighter, with a lower quantity of body fat and muscle mass than those born AGA. There was predominance of appropriate anthropometric growth and body composition indicators at school-age, even in Group SGA. Conclusion: At school-age, the children of this study showed no major alterations related to anthropometry.


Asunto(s)
Peso al Nacer , Desarrollo Infantil , Edad Gestacional , Antropometría , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Embarazo , Estudios Prospectivos
19.
JAMA Netw Open ; 4(5): e219878, 2021 05 03.
Artículo en Inglés | MEDLINE | ID: mdl-33983398

RESUMEN

Importance: The Zika virus infects progenitor neuron cells, disrupts cerebral development, and, in mice, drives hypothalamic defects. Patients with microcephaly caused by congenital Zika infection present with midline cerebral defects, which may result in hypopituitarism. Objective: To analyze postnatal growth and the presence of clinical and biochemical features associated with hypopituitarism in children with congenital Zika infections. Design, Setting, and Participants: In this prospective cohort study at 2 public referral hospitals in Bahia, Brazil, specializing in the treatment of congenital Zika infection, clinical data and growth parameters of 65 patients with the infection were evaluated. Data were analyzed from April 2017 through July 2018. Exposure: Congenital Zika infection. Main Outcomes and Measures: Length, weight, and head circumference were measured at birth and during follow up (ie, at 27 months of life) for each patient. Basal levels of free thyroxine, thyrotropin, cortisol, corticotropin, prolactin, insulin-like growth factor 1, insulin-like growth factor binding protein 3, urine and plasma osmolality, electrolytes, glucose, and insulin were evaluated at the age of 26 months to 28 months. All patients underwent central nervous system computed tomography scans and ophthalmic and otoacoustic evaluations at the time of this investigation or had done so previously. Results: Among 65 patients (38 [58.4%] male; median [interquartile range] age at enrollment, 27 [26-28] months), 61 patients presented with severe brain defects (93.8%), including corpus callosum agenesis or hypoplasia (ie, midline brain defects; 25 patients [38.5%]) and optic nerve atrophy (38 patients [58.5%]). Most patients presented with severe neurodevelopmental delay (62 of 64 patients [96.9%]). Past or present clinical signs of hypopituitarism were rare, occurring in 3 patients (4.6%). Severe microcephaly, compared with mild or moderate microcephaly, was associated with a shorter length by median (interquartile range) z score at birth (-1.9 [-2.5 to -1.0] vs -0.3 [-1.0 to 0]; P < .001), but this difference did not persist at 27 months (-1.6 [-2.3 to -0.3] vs -2.9 [-4.0 to -1.2]; P = .06). Growth hormone deficiency or hypothyroidism were not observed in any patients, and glucose and insulin levels were within reference ranges for all patients. Low cortisol levels (ie, below 3.9 µg/dL) were observed in 4 patients (6.2%). These 4 patients presented with low (ie, below 7.2 pg/mL) or inappropriately low (ie, below 30 pg/mL) corticotropin levels. Low corticotropin levels (ie, below 7.2 pg/mL) were observed in 6 patients (9.2%). Diabetes insipidus was evaluated in 21 patients; it was confirmed in 1 patient (4.8%) and suggested in 3 patients (14.3%). Conclusions and Relevance: This study found that congenital Zika infection with microcephaly was associated with midline brain defects and optic nerve atrophy. Children with congenital Zika infections presented with prenatal growth impairments with a lack of postnatal catch-up, as shown by persistent short length from birth until 27 months; these impairments were not associated with growth hormone deficiency. Patients also presented with severe developmental delay that was not associated with hypothyroidism, while central adrenal insufficiency and diabetes insipidus occurred in some patients.


Asunto(s)
Hipopituitarismo/virología , Microcefalia/virología , Infección por el Virus Zika/complicaciones , Brasil , Preescolar , Femenino , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiología , Hipopituitarismo/patología , Masculino , Microcefalia/diagnóstico por imagen , Microcefalia/etiología , Microcefalia/patología , Neuroimagen , Tomografía Computarizada por Rayos X , Infección por el Virus Zika/diagnóstico por imagen , Infección por el Virus Zika/patología
20.
Nutr Hosp ; 38(1): 36-42, 2021 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-33319572

RESUMEN

INTRODUCTION: Introduction: human growth is the result of an interaction between genetic, hormonal, nutritional, and environmental factors. It is not yet fully understood what is predominant and decisive in determining an individual's weight and height. Objective: the aim of this study was to evaluate the cardiometabolic profile of exclusively breastfed children born small for gestational age (SGA). Methods: this is a prospective cohort study of children born at term who were classified as SGA, and as appropiate for gestational age (AGA), who were followed up to pre-school age. Anthropometric measures and body composition parameters were obtained. Breastfeeding duration was calculated in days, and achievement of catch up of weight was considered an increase in Z-score ≥ 0.67. The cardiometabolic profile was evaluated in the first month of life and repeated at pre-school age. At pre-school age, fasting blood glucose, insulin, HOMA-IR, and blood pressure were measured. Results: twenty SGA and 12 AGA children were studied. The mean duration of exclusive breastfeeding (EBF) was 180 days in both groups. Of SGA children, 85 % had recovery anthropometric parameters for age within the first six months, with a speed of weight gain significantly higher than the that of AGAs (p < 0.001). SGAs continued to be thinner and smaller than AGAs at pre-school age. There was no diagnosis of overweight or obesity in the studied sample, and no differences were foun between groups in laboratory tests. Conclusion: these findings suggest that EBF may confer protection until pre-school age in children born SGA, who are considered at higher risk for chronic non-communicable diseases.


INTRODUCCIÓN: Introducción: el crecimiento humano es el resultado de la interacción de factores genéticos, hormonales, nutricionales y ambientales. Todavía no se comprende completamente lo que es predominante y decisivo para determinar el peso y la altura del individuo. Objetivo: el objetivo de este estudio fue evaluar el perfil cardiometabólico de niños alimentados con lactancia materna exclusivamente y que nacieron pequeños para la edad gestacional (PEG). Métodos: este es un estudio de cohortes prospectivo con niños nacidos a término, unos clasificados como PEG y otros como apropiados para la edad gestacional (AEG). Se hizo un seguimiento de estos niños hasta la edad preescolar. Se realizaron medidas antropométricas y de la composición corporal. La duración de la lactancia materna se calculó en días y el éxito en la recuperación del peso se consideró como un aumento de la puntuación Z ≥ 0,67. El perfil cardiometabólico se evaluó en el primer mes de vida y se repitió en la edad preescolar. En la edad preescolar se midieron la glucosa en sangre en ayunas, la insulina, el HOMA-IR y la presión arterial. Resultados: el grupo del estudio estaba formado por veinte niños PEG y doce niños AEG. La duración media de la lactancia materna exclusiva (LME) fue de 180 días en ambos grupos. De los niños PEG, el 85 % tenían parámetros antropométricos de recuperación para la edad en los primeros seis meses, siendo la velocidad del aumento de peso significativamente mayor que en los AEG (p < 0,001). Aun así, los niños PEG continuaron siendo más delgados y pequeños que los AEG en la edad preescolar. No hubo diagnóstico de sobrepeso u obesidad en la muestra estudiada, y no hay diferencia entre los grupos relativos a las pruebas de laboratorio. Conclusión: estos hallazgos sugieren que la LME puede conferir protección hasta la edad preescolar en los niños nacidos PEG, que se consideran en mayor riesgo de contraer enfermedades crónicas no transmisibles.


Asunto(s)
Lactancia Materna , Recién Nacido Pequeño para la Edad Gestacional/sangre , Recién Nacido Pequeño para la Edad Gestacional/crecimiento & desarrollo , Leche Humana , Aumento de Peso , Adiposidad , Glucemia/análisis , Determinación de la Presión Sanguínea/métodos , Composición Corporal , Trayectoria del Peso Corporal , Lactancia Materna/estadística & datos numéricos , Preescolar , Ayuno/sangre , Edad Gestacional , Homeostasis , Humanos , Lactante , Recién Nacido , Insulina/sangre , Resistencia a la Insulina , Estudios Prospectivos , Nacimiento a Término , Factores de Tiempo
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