A. Colmenares

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OBJECTIVES 1. To determine BMI, obesity/overweight rates, glucose and lipids at baseline, during GnRHa treatment and shortly after therapy discontinuation in female children with CPP and EP. 2. To compare this response to that seen in a similar group of untreated patients. METHODS A retrospective analysis of 71 children with either CPP (n = 37) or EP (n =(More)
Phenylketonuria (PKU, McKusick 261600) is an autosomal recessive disorder caused by a deficiency of the liver enzyme phenylalanine hydroxylase (PAH, EC 1.14.16.1). In the last decade, biochemical studies have revealed that PAH deficiency is phenotypically heterogeneous, and four PKU phenotypes have been described: severe, moderate, mild and non-PKU(More)
BACKGROUND/AIMS Prader-Willi syndrome (PWS) is a complex genetic disorder whose many manifestations include obesity and short stature. Diabetes, osteoporosis, and scoliosis are common. We evaluated the effects of human growth hormone (hGH). METHODS A prospective cohort study of 36 children (1-15 years of age) with genetically confirmed PWS who were given(More)
OBJECTIVES To compare the pubertal development, the hormonal profiles and the prevalence of hirsutism and menstrual disorders in obese adolescent girls and adolescent girls with type 1 diabetes mellitus (T1DM). METHODS Data were collected from 96 obese adolescent girls and 78 adolescent girls with T1DM at Tanner stage IV or V, whose ages ranged between(More)
OBJECTIVE To further investigate the molecular mechanism by which NR5A1/SF-1 mutation led to gonadal dysgenesis with predominant Sertoli cell defect. DESIGN Genetic and functional mutation study. SETTING University hospital. PATIENT(S) Genetic analysis of an XY newborn with hypospadias and micropenis. Puberty developed spontaneously with a rise in T(More)
Gelenbe has proposed a neural network, called a Random Neural Network, which calculates the probability of activation of the neurons in the network. In this paper, we propose to solve the patterns recognition problem using a hybrid Genetic/Random Neural Network learning algorithm. The hybrid algorithm trains the Random Neural Network by integrating a(More)
A total of 184 Costa Rican Allergic Rhinitis patients with at least one positive skin prick test in a previous study were tested for reaction to Poaceae tribes and species compared with 100 non atopic subjects. Skin prick tests were applied for the most abundant species present in Costa Rica. Highest positivity rates among the Allergic Rhinitis patients(More)
OBJECTIVE The prevalence of severe primary IGF1 deficiency (IGFD) is unclear. IGFD must be identified promptly as treatment with recombinant human IGF1 (rhIGF1) is now available. Our objective was to characterize and assess the prevalence of severe primary IGFD in a large cohort of patients evaluated for short stature at a pediatric endocrinology unit in(More)
INTRODUCTION Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1963, and eventually disappeared as a cause of mental retardation. Yet, this is not the case in most developing countries. AIM To describe the phenotype and the genotype of PKU patients with a delayed diagnosis in order to draw attention to the importance of(More)
Type I Hypersensitivity to Poaceae pollen was tested in 27 Costa Rican patients with a clinical diagnosis of Atopic Dermatitis (six were males). Skin prick tests were done with 1/10 W/V, 50% glycerinated, pollen extracts, organized by tribes. Most patients had several allergic problems. Sensitivity increased with the number of allergic diagnoses. Positivity(More)