A5048796749- Vitamin D Research Studies
- Health and Lifestyle Studies
- Hormonal Regulation and Hypertension
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Obesity, Physical Activity, Diet
- Birth, Development, and Health
- Educational methodologies and cognitive development
- Neonatal Respiratory Health Research
- Amyotrophic Lateral Sclerosis Research
- Blood Pressure and Hypertension Studies
- Gestational Trophoblastic Disease Studies
- Pharmacological Effects and Assays
- Apelin-related biomedical research
- Genetic Syndromes and Imprinting
- Infant Health and Development
- Thyroid Disorders and Treatments
- Ovarian cancer diagnosis and treatment
- Diabetes Management and Research
- Human Health and Disease
- Neuroscience of respiration and sleep
- Reproductive Biology and Fertility
- Genomics and Rare Diseases
- Neonatal Health and Biochemistry
- Electrolyte and hormonal disorders
Hospital Las Higueras
2019-2024
Pontificia Universidad Católica de Chile
2019
Abstract Context Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps Prader-Willi syndrome, patients also manifesting arthrogryposis. L1 a group of X-linked disorders that include hydrocephalus and lower limb spasticity, presents Objective We investigated the molecular basis underlying CH arthrogryposis five patients. Patients The heterozygous p.Q666fs*47 mutation maternally...
Fetal hyperthyroidism is a rare prenatal disease and can be life-threatening. The diagnosis based on ultrasound in mothers with history of Basedow-Graves' elevation thyrotropin receptor antibodies (TRAbs) levels. treatment consists antithyroid drugs. We present mother disease, treated radioactive iodine 16 years ago. She had an unplanned pregnancy at the age 29 years, TRAbs (21 U/L) was found sixth week pregnancy. At 22 weeks gestation, fetal displayed tachycardia, goiter, exophthalmos,...
To identify associations among the plasma renin concentration (PRC), aldosterone and urinary sodium (Na)/potassium (K) ratio, to integrate these variables into a nomogram with aim of estimating expected versus observed concentration.We studied 40 healthy normotensive children (5-8 years old, 57.5% girls) who were born at term adequate for their gestational age. Following overnight fasting, PRC in blood samples measured, Na/K ratio was calculated from simultaneously obtained spot sample. A...
Abstract BACKGROUND: The central role of Vitamin D is the homeostasis calcium and phosphorus, affecting bone metabolism directly. principal source synthesis by skin in response to its exposure ultraviolet B radiation. vitamin affected different factors such as age, pigmentation, use sunscreen, clothing. low sun exposure, especially extreme latitudes, associated with a more frequent prevalence deficiency. Objective: To determine if there are variances 25-OH-VitaminD3 concentration throughout...
The main role of Vitamin D is to regulate calcium metabolism, whose source vitamin D3 ob tained mostly from the action ultraviolet (UV) light on skin.To evaluate seaso nal differences in concentrations 25-hydroxy-vitamin (25OHVitD3), parathyroid hormone (PTH), alkaline phosphatase (ALP), and school-age children.The 25OHVitD3, PTH, ALP, were measured children Santiago, Chile (latitude -33.4372), aged 5 8 years, without supplementation, different seasons year. VitD status was defined as...
El principal rol de la vitamina D es regulación del metabolismo calcio, cuya fuente D3 que se obtiene principalmente por acción luz ultravioleta (UV) en piel.Objetivo: Evaluar las diferencias estacionales concentraciones 25-hidroxi-vitamina (25OHVitD3), hormona paratiroidea (PTH), fosfatasa alcalina (FA) y calcio niños edad escolar.Sujetos Método: Se midieron 25OHVitD3, PTH, FA 5 a 8 años, sin suplementación Vitamina D, reclutados Santiago Chile (latitud -33.4372) distintas estaciones año....
El principal rol de la vitamina D es regulación del metabolismo calcio, cuya fuente D3 que se obtiene principalmente por acción luz ultravioleta (UV) en piel.Objetivo: Evaluar las diferencias estacionales concentraciones 25-hidroxi-vitamina (25OHVitD3), hormona paratiroidea (PTH), fosfatasa alcalina (FA) y calcio niños edad escolar.Sujetos Método: Se midieron 25OHVitD3, PTH, FA 5 a 8 años, sin suplementación Vitamina D, reclutados Santiago Chile (latitud -33.4372) distintas estaciones año....