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1.
Horm Res Paediatr ; 2023 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-37844556

RESUMO

Objectives - Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by severe impairments in speech, cognition and motor skills accompanied by unique behaviors, distinct facial features and high prevalence of epilepsy and sleep problems. Despite some reports of short stature among AS patients, this feature is not included in the clinical criteria defined in 2005. We investigated growth patterns among AS patients with respect to mutation type, growth periods, family history and endocrine abnormalities. Methods - Data was collected from patients' medical files in AS national clinic. Mutation subtypes were divided to deletion and non-deletion. Four growth periods were defined: preschool, childhood, peak-height velocity, and final-height. Results - The cohort included 88 individuals (46 males), with 54 (61.4%) carrying deletion subtype. A median of 3 observations per individual , produced 280 data points. Final-height-SDS was significantly lower compared to general population (-1.23±1.26, p<0.001), and in deletion group vs. non-deletion (-1.67±1.3 vs. -0.65±0.96, p=0.03). Final-height-SDS was significantly lower compared to height-SDS in preschool period (-1.32 vs -0.47, p=0.007). Patient's final-height-SDS was significantly lower than the parents' (∆final-height-SDS=0.94±0.99, p=0.002). IGF1-SDS was significantly decreased compared to general population (-0.55±1.61, p=0.04), with lower values among deletion group (-0.70±1.44, p=0.01) Conclusions - AS patients demonstrate specific growth pattern with deceleration during childhood and adolescence resulting in significantly decreased final height compared to normal population, and even lower among deletion subgroup, which could be attributed to reduced IGF1 levels. We propose adding short stature to the clinical criteria and developing adjusted growth curves for AS population.

2.
Am J Obstet Gynecol ; 207(3): 222.e1-4, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22749409

RESUMO

OBJECTIVE: The purpose of this study was to determine whether corticosteroid administration after 34 weeks of gestation is associated with improved neonatal outcome in the presence of fetal lung immaturity. STUDY DESIGN: We conducted a retrospective cohort study of women who underwent amniocentesis to determine fetal lung maturity from 34-37 weeks of gestation. Patients with negative results (167 women) received steroids based on physician preference and were categorized into 2 groups: study group treated with betamethasone (n = 83 women) and control group in which patients did not receive betamethasone therapy (n = 84 women). The 2 groups were compared with respect to neonatal outcomes. Composite neonatal morbidity was defined as the presence of respiratory distress syndrome, transient tachypnea of the newborn infant, or the need for respiratory support. RESULTS: The rate of composite neonatal morbidity was significantly lower among infants who were exposed to steroids compared with the control group (8.4% vs 21%; P = .02). Multiple regression analysis revealed that corticosteroid administration was associated independently with the composite morbidity outcome. CONCLUSION: Antenatal steroid administration after 34 weeks of gestation is associated with improved neonatal outcome and should be considered when fetal lung immaturity is documented.


Assuntos
Betametasona/uso terapêutico , Doenças Fetais/tratamento farmacológico , Maturidade dos Órgãos Fetais/efeitos dos fármacos , Glucocorticoides/uso terapêutico , Pulmão/embriologia , Adulto , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Estudos Retrospectivos
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