A5041420113- Hearing, Cochlea, Tinnitus, Genetics
- Retinal Development and Disorders
- Vestibular and auditory disorders
- Retinal Diseases and Treatments
- Retinal and Macular Surgery
- Congenital heart defects research
- Retinal and Optic Conditions
- Genetics and Neurodevelopmental Disorders
- Aging, Health, and Disability
- Genomic variations and chromosomal abnormalities
- Lipoproteins and Cardiovascular Health
- Retinopathy of Prematurity Studies
- Mitochondrial Function and Pathology
- Ear Surgery and Otitis Media
- Connexins and lens biology
- melanin and skin pigmentation
- Congenital Ear and Nasal Anomalies
- RNA and protein synthesis mechanisms
- Fetal and Pediatric Neurological Disorders
- Pineapple and bromelain studies
- Hippo pathway signaling and YAP/TAZ
- Calcium signaling and nucleotide metabolism
- Blood properties and coagulation
- Ion Channels and Receptors
- Genomics and Rare Diseases
Pontificia Universidad Javeriana
2013-2024
Fundación Neumológica Colombiana
1999-2011
Universidad del Rosario
2005
Boys Town
1998
Harvard University
1998
University of Michigan
1998
University of Nebraska Medical Center
1998
W.K. Kellogg Foundation
1998
Oakland University
1997
Smith-Kettlewell Eye Research Institute
1997
<h3>Importance</h3> Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity mortality due atherosclerotic cardiovascular disease. affects 1 in 200 250 people around the world of every race ethnicity. The lack general awareness FH among public medical community has resulted only 10% population being diagnosed adequately treated. World Health Organization recognized as a health priority 1998 during consultation meeting Geneva,...
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps the long arm of human chromosome 1q41 between markers AFM268ZD1 AFM144XF2. Three biologically important mutations in patients were identified a gene ( USH2A ) isolated from this critical region. The encodes protein with predicted size 171.5 kilodaltons that has laminin epidermal growth factor fibronectin III motifs;...
Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes identified to date. One of these, OTOF, encodes otoferlin, membrane-anchored calcium-binding protein that plays role in the exocytosis synaptic vesicles at auditory inner hair cell ribbon synapse. We investigated prevalence spectrum deafness-causing mutations OTOF gene. Cohorts 708 Spanish, 83 Colombian, 30 Argentinean unrelated subjects with...
Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), truncate GJB6 (connexin 30), loss individuals homozygous, or compound heterozygous for these deletions one such deletion mutation GJB2. Recently, we have demonstrated that contributes to due an allele-specific lack mRNA expression not as result digenic inheritance, was postulated earlier. In current...
El cantón Colta está ubicado al noroccidente de la provincia Chimborazo en Ecuador y a lo largo del tiempo enfrenta problemas identidad arquitectura rural que identifique su cultura apropiación entorno, no le permite definir con claridad trayectoria constructiva para promover dinamizar el perfil comunicativo exterior.
Abstract A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected belonging families, giving a frequency of 5.38% WS the institutionalized population. We confirmed clinical diagnosis in propositi and, through family evaluation, we also 45 non‐institutionalized relatives. Audiologic, ophthalmologic, genetic studies were performed confirm diagnosis. Following classification consortium, based...
Otological, ophthalmological and genetic studies were performed in 46 patients with Usher syndrome, identified through a screening program Colombia. Of them, 69.6% had syndrome type I, 26.1% II, 4.3% III. Thirty‐three showed profound deafness (71.7%), while 13 (28.3%) moderate to severe hearing loss. The ophthalmologic manifestations marked variability. Although the majority of serious ocular impairment before age 20. 32.6% good central visual acuity. prevalence Colombia, estimated at...
In Brief Purpose: To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS) in a large Colombian family 26 males. Methods: Retrospective review of charts from XLRS who underwent complete ophthalmologic examinations, ancillary tests, genetic evaluation, molecular studies. Results: Three female patients (6 eyes) were identified. The patients' ages ranged 10 to 37 years. Initial visual acuity was equal or worse than 20/50 4 eyes (66%)...
X-linked retinoschisis (XLRS) is a vitreoretinal disease responsible for most cases of juvenile macular degeneration in males. Retinoschisis carrier females generally manifest no pathological symptoms. However, large affected family from Colombia presented three with typical RS phenotype similar to their 27 male relatives. Fundus examination as well electroretinograms (ERG) indicate that the these severe counterparts. DNA sequence analysis XLRS1 gene members this indicates single base (G)...
Abstract We report the brain magnetic resonance imaging findings in 4 patients with Opitz BBB/G syndrome. The scans were assessed by subjective interpretation and computerized image analysis. Findings noted 3 of include hypoplasia or agenesis corpus callosum (3 patients), cortical atrophy ventriculomegaly macro cisterna magna a wide cavum septum pellucidum (1 patient). One patient had normal scan. demonstration extends spectrum midline anomalies (ventral induction defects) reported this...
We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I II (US1 US2). In addition classic visual audiological abnormalities seen in these we observed abnormal gait 88.9% US1 66.7% US2 patients coordination 33.4% US1, 58.3% US2. Borderline mental retardation, depression or bipolar affective disorder were 16.7% 33.3% patients. showed cerebellar 50% US 1 75% but no clear correlation was between structural clinical...
To characterize the largest cohort of individuals with RDH12-retinal dystrophy to date, and first one from South America. Retrospective multicenter international study. 78 patients (66 families) an inherited retinal biallelic variants in RDH12. Review clinical notes, ophthalmic images, molecular diagnosis. Visual function, imaging characteristics were evaluated correlated. Thirty-seven self-identified as Latino (51%) 34 White (47%). Mean age at baseline visit was 19.8 ± 13 years old (6...
Abstract To identify causative factors we screened 1,715 deaf individuals from 16 schools for the in Colombia. We found evidence of environmental causation 579 (33.8%) cases, genetic 608 (35.4%), and 528 (30.8%) were unable to etiology. The degree hearing loss was severe profound 1,238 (72.2%), although 987 (57.5%) population studied impairment not noticed until 2 5 years age. frequent association deafness with other anomalies underscores importance a careful clinical ophthalmologic...
Age-related macular degeneration (AMD) is the leading cause of visual impairment in patients over 55 years. Currently, most common therapies for neovascular AMD (nAMD) are intravitreal antiangiogenics. Studies suggest that genetic factors influence on antiangiogenics therapy outcomes. The purpose this work was to establish association between complement factor H (CFH) (Y402H), age-related maculopathy susceptibility 2 (ARMS2) (A69S), and high-temperature requirement A1 (HTRA1) (rs11200638)...
Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It the most frequent cause of deaf-blindness in humans. Three clinical types twelve genetic subtypes have been characterized. Type II common, among these cases, nearly 80% mutations USH2A gene.The aim study was to establish mutational frequencies for short isoform gene type II.Twenty-six Colombian individuals with were included. SSCP analysis 20 exons...