A5043679014- Bone health and treatments
- dental development and anomalies
- Bone Metabolism and Diseases
- Connective tissue disorders research
- Tumors and Oncological Cases
- Cell Adhesion Molecules Research
- Tuberous Sclerosis Complex Research
- Sexual Differentiation and Disorders
- Hormonal and reproductive studies
- Craniofacial Disorders and Treatments
- Porphyrin Metabolism and Disorders
- Statistical Methods in Clinical Trials
- Renal function and acid-base balance
- Health, Education, and Physical Culture
- Cancer-related gene regulation
- RNA modifications and cancer
- Skin and Cellular Biology Research
- Cardiac electrophysiology and arrhythmias
- Health and Lifestyle Studies
- Diabetes Management and Education
- Genetic Syndromes and Imprinting
- Histiocytic Disorders and Treatments
- Pharmacogenetics and Drug Metabolism
- Alcoholism and Thiamine Deficiency
- Drug-Induced Ocular Toxicity
Universidad Centroamericana José Simeón Cañas
2024
University of the Andes
2016-2023
Osiris Therapeutics (United States)
2022
Hospital Clínico Universitario de Caracas
2014
Pharmacogenomics (PGx) is considered an emergent field in developing countries. Research on PGx the Latin American and Caribbean (LAC) region remains scarce, with limited information some populations. Thus, extrapolations are complicated, especially mixed In this paper, we reviewed analyzed pharmacogenomic knowledge among LAC scientific clinical community examined barriers to application. We performed a search for publications trials worldwide evaluated contribution of LAC. Next, conducted...
Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the <i>COL10A1</i> gene 120110) encoding α1(X) chains of type X collagen. We report 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, lower limbs, bowing femurs, genu varum, and fraying splaying, who a carrier novel 2-bp (c.1894_1895dupTA; p.Leu633Thrfs*45) duplication exon 3 <i>COL10A1 </i>gene.
Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group alterations which produce an abnormal phenotype.Case report: Two unrelated female patients with clinical findings Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly hands feet-are...
Presentación de casos clínicos RESUMENEl síndrome la trisomía 18 es un trastorno clínico y genético, el cual presenta cromosoma extra completo en cada célula, variante que se denomina libre.Además, puede ocurrir forma parcial mosaico.Clínicamente, caracteriza por retardo del crecimiento intrauterino, desarrollo psicomotor mental, hallazgos craneofaciales característicos, cardiopatía congénita, pelvis hipoplásica, manos empuñadas pies mecedora, entre otros.La mosaico cuando células con líneas...
Presentación de casos clínicos RESUMENLa acidemia propiónica es un trastorno infrecuente con patrón herencia autosómico recesivo causado por la deficiencia enzima mitocondrial propionil-CoA carboxilasa, que convierte el a D-metilmalonil-CoA.Se expone caso recién nacido masculino signos dificultad respiratoria, vómitos y cansancio durante alimentación.Presentó acidosis metabólica, cuerpos cetónicos en suero orina positivos, hiperamonemia, anemia, trombocitopenia e hipoproteinemia.El estudio...
Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group alterations which produce an abnormal phenotype.Two unrelated female patients with clinical findings Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly hands feet-are present. In both...
Cleidocranial dysplasia is an uncommon bone with autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical study in a family cleidocranial produced mutations the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), who presented heterozygous missense mutation (c.674G> A, p.R225Q)...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles supernumerary teeth. Heterozygous mutations the runt related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% cases leaving large number with no defined genetic cause which led us to delve into molecular mechanisms underlying CCD thus detect potential target genes be...
This article presents a contribution to the study of architectural composition Modest Residential Heritage built in Historic Center San Salvador late 19th and early 20th centuries. The objective is identify patterns spatial organization these dwellings, particularly "casa patio" typology, which exhibits continuities from colonial (virreinal) period republican era. Due lack residential buildings virreinal Salvador, four cases houses Antigua Guatemala, capital Kingdom Guatemala province...
La neurofibromatosis tipo 1 (NF1) es una entidad genética con incidencia de entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta 6,000 10,000 Ambas entidades neurocutáneas cursan un patrón herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada complicaciones multisistémicas. El objetivo este trabajo fue exponer las características clínicas epidemiológicas serie pacientes pediátricos diagnóstico NF1 CET...
Abstract 5α‐Reductase type 2 deficiency causes a 46,XY disorder of sex development (DSD) characterized by ambiguous external genitalia, rudimentary prostate, and normal internal genitalia. The disease prevalence worldwide is low, but in small isolated village the Venezuelan Andes, higher incidence has been found. DNA analysis SRD5A2 gene was performed three inbred affected individuals clinically diagnosed with DSD. entire coding regions, p.L89V polymorphism (rs523349) five intragenic SNPs...
BACKGROUND: Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; clinical genetic heterogeneity these conditions renders an accurate diagnosis more challenging. The aim this study is to demonstrate utility targeted resequencing panel through enhancing molecular EDs. Given recent developments in gene protein-based therapies for X-linked hypohidrotic ectodermal dysplasia, there re-emerging interest identifying basis EDs respective...
Presentación de casos clínicos RESUMENLa isotretinoína es el medicamento más efectivo en tratamiento del acné noduloquístico recalcitrante grave.Sin embargo, con este fármaco se encuentra asociado efectos adversos, y grave la teratogénesis.Se ha estimado que 40% los embarazos expuestos a presenta un aborto espontáneo 35% desarrolla embriopatía.Se caso recién nacido antecedente exposición prenatal isotretinoína, una entidad clínica puede evitarse, graves defectos