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Genetic and epigenetic control of puberty
(2022)Puberty is a complex transitional phase in which reproductive capacity is achieved. There is a very wide variation in the age range of the onset of puberty, which follows a familial, ethnic, and sex pattern. The ... -
Implementation science : from evidence to practice
(2018)The wide range of scientific evidence supporting various clinical interventions is not sufficient for these interventions to be used in practice. For this reason, Evidence-Based Medicine must take the step towards ... -
Haploinsufficiency of SF3B2 causes craniofacial microsomia
(2021)Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial ... -
Geographical distribution of access to healthcare in patients diagnosed with hypospadias
(2021)Objective Hypospadias is a congenital disease of unknown etiology involving multiple epigenetic, genetic, and endocrinological factors. It is a highly incapacitating condition. Its surgical management is one of the most ... -
Toxicity, teratogenicity and anti-cancer activity of alpha-solanine : a perspective on anti-cancer potential
(2019)The alpha-Solanine is a glycoalkaloid metabolite produced by solanaceae species, important plant food in the human nutrition. This alpha-solanine is highly toxic to animals and humans and has been indicated as a risk factor ... -
Diagnostic definition in a family with malattia leventinese in Colombia
(2021)Malattia leventinese (ML) is an autosomal dominant inherited disease which initiates symptoms between the second and fourth decade of life. It is characterized by the appearance of drusen located between the retinal pigment ... -
Epidemiology of congenital heart diseases in Bogotá, Colombia, from 2001 to 2014 : improved surveillance or increased prevalence?
(2018)Introduction: Congenital heart diseases are functional and structural alterations of the heart, circulatory system, and large vessels, which develop during cardiac embryogenesis. These defects are significant causes of ... -
Transdisciplinary management of patients with disorders of sexual development in Colombia. Limiting factors for appropriate management
(2017)Introduction Disorders of sex development (DSD) are present in 0.76 per 4,500 births. The management is complex and requires the ability of a multi-disciplinary team, which can have a positive impact on the prognosis. The ... -
Web visit patterns for the clinical practice guidelines for management of depressive disorder and alcohol abuse-dependence
(2017)Introduction Clinical practice guidelines (CPG) are a set of recommendations for professionals, patients, and families, in order to make decisions about health care. The CPG respond to the need for concise, accurate, ... -
Prevalence of aortic coarctation in Bogotá-Colombia from 2001 to 2018. the diagnostic needs to improve
(2021)OBJECTIVES: Aortic coarctation is the most frequent structural anomaly out of congenital heart diseases. This congenital defect is an important cause of death worldwide. We sought to determine the prevalence of aortic ... -
Role of cytokines in the pathophysiology of systemic lupus erythematosus
(2021)The physiological mechanism in systemic lupus erythematosus is not yet fully elucidated. It is currently known that it is a multifactorial autoimmune disease which includes genetic, environmental and immune factors. Over ... -
Characterization of newborns with moderate or severe perinatal asphyxia managed with selective cerebral hypothermia in the newborn unit of the Hospital Universitario San Ignacio from june 2015 to march 2017
(2019)Introduction: Hypoxic- ischemic encephalopathy generates various alterations in the central nervous system of the newborn, with various consequences ranging from physical and mental disability to death. The evidence indicates ... -
Serum folic acid values in a group of patients over 18 years of age in a highly complex hospital
(2017)Objective: To establish the serum levels of folic acid in a group of adult patients. Methods: Measurement of folic acid using immunoassay in 1797 subjects. Measures of central tendency and 95% CI were calculated. Age groups ... -
Seroprevalence and seroconversion rates to SARS-CoV-2 in interns, residents, and medical doctors in a university hospital in Bogotá, Colombia
(2020)Objectives: To determine the prevalence of antibodies to SARS-CoV-2 and the incidence of seroconversion in the first month of follow-up among interns, residents, and medical doctors attending patients at a University ... -
Technology-based mental healthcare models : a systematic review of the literature
(2021)Introduction: This systematic review summarises the existing evidence on the implementation of technology-based mental healthcare models in the primary care setting. Methods: A systematic search was conducted (MEDLINE, ... -
Interpretación medicolegal para el abordaje de individuos con desórdenes del desarrollo sexual en Colombia
(2021)Objective Disorders of sexual development (DSDs) are a group of conditions that require a transdisciplinary approach. In the colombian legislation, there are no specific regulations regarding medical interventions in ... -
Assessment of placental extracellular vesicles-associated fas ligand and TNF-related apoptosis-inducing ligand in pregnancies complicated by early and late onset preeclampsia
(2021)Preeclampsia (PE) is a hypertensive disorder that affects 2–8% of pregnancies and is one of the main causes of fetal, neonatal, and maternal mortality and morbidity worldwide. Although PE etiology and pathophysiology remain ... -
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
(2018)Neutral lipid storage disease with myopathy (NLSDM) is characterized by the accumulation of cytoplasmic triglyceride droplets in various tissues; this very rare condition is caused by mutations in the PNPLA2 gene, susceptible ...
